LAMA2 (laminin subunit alpha 2) - Rat Genome Database

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Gene: LAMA2 (laminin subunit alpha 2) Homo sapiens
Analyze
Symbol: LAMA2
Name: laminin subunit alpha 2
RGD ID: 1318918
HGNC Page HGNC:6482
Description: Predicted to enable structural molecule activity. Predicted to be involved in muscle organ development. Predicted to act upstream of or within axon guidance and positive regulation of cholinergic synaptic transmission. Located in basement membrane. Implicated in autosomal recessive limb-girdle muscular dystrophy; congenital merosin-deficient muscular dystrophy 1A; muscular dystrophy; and myopia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: laminin M chain; laminin subunit alpha-2; laminin, alpha 2; laminin-12 subunit alpha; laminin-2 subunit alpha; laminin-4 subunit alpha; LAMM; MDC1A; merosin heavy chain; mutant laminin subunit alpha 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386128,883,138 - 129,516,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6128,883,138 - 129,516,566 (+)EnsemblGRCh38hg38GRCh38
GRCh376129,204,283 - 129,837,711 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366129,245,979 - 129,879,404 (+)NCBINCBI36Build 36hg18NCBI36
Build 346129,246,034 - 129,879,401NCBI
Celera6129,950,556 - 130,583,793 (+)NCBICelera
Cytogenetic Map6q22.33NCBI
HuRef6126,785,527 - 127,418,362 (+)NCBIHuRef
CHM1_16129,468,357 - 130,101,369 (+)NCBICHM1_1
T2T-CHM13v2.06130,076,331 - 130,710,229 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
9-cis-retinoic acid  (EXP)
aflatoxin B1  (EXP)
all-trans-4-oxoretinoic acid  (EXP)
all-trans-retinoic acid  (EXP,ISO)
amiodarone  (ISO)
amphetamine  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP,ISO)
benzo[a]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
calcitriol  (EXP)
cantharidin  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
cefaloridine  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium(6+)  (EXP)
cisplatin  (EXP)
Cuprizon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diquat  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
fonofos  (EXP)
inulin  (ISO)
isoprenaline  (ISO)
isotretinoin  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lipopolysaccharide  (EXP)
methotrexate  (EXP)
mifepristone  (EXP)
mitoxantrone  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-ethyl-N-nitrosourea  (ISO)
nickel atom  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenytoin  (ISO)
pioglitazone  (ISO)
potassium dichromate  (ISO)
progesterone  (ISO)
propanal  (EXP)
Ptaquiloside  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sotorasib  (EXP)
terbufos  (EXP)
tetrachloromethane  (ISO)
topotecan  (EXP)
trametinib  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP)
vincristine  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal brainstem MRI signal intensity  (IAGP)
Abnormal cerebral white matter morphology  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormality of metabolism/homeostasis  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the temporomandibular joint  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Absent muscle fiber merosin  (IAGP)
Adult onset  (IAGP)
Areflexia  (IAGP)
Arrhythmia  (IAGP)
Aspiration  (IAGP)
Astrocytosis  (IAGP)
Atelectasis  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axonal degeneration  (IAGP)
Calf muscle hypertrophy  (IAGP)
Cardiomyopathy  (IAGP)
Cerebral edema  (IAGP)
Childhood onset  (IAGP)
Cognitive impairment  (IAGP)
Congenital onset  (IAGP)
Decreased body weight  (IAGP)
Decreased nerve conduction velocity  (IAGP)
Delayed ability to walk  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Dysphagia  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Elevated muscle fiber laminin alpha 5 expression  (IAGP)
EMG abnormality  (IAGP)
Exercise-induced muscle cramps  (IAGP)
Exercise-induced myalgia  (IAGP)
Facial palsy  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Focal-onset seizure  (IAGP)
Gastroesophageal reflux  (IAGP)
Generalized non-motor (absence) seizure  (IAGP)
Gowers sign  (IAGP)
Highly elevated creatine kinase  (IAGP)
Hyperlordosis  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypointensity of cerebral white matter on MRI  (IAGP)
Hypokinesia  (IAGP)
Hypotonia  (IAGP)
Hypoventilation  (IAGP)
Impaired mastication  (IAGP)
Inability to walk  (IAGP)
Increased connective tissue  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intellectual disability  (IAGP)
Intercostal muscle weakness  (IAGP)
Internally nucleated skeletal muscle fibers  (IAGP)
Juvenile onset  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Lissencephaly  (IAGP)
Macroglossia  (IAGP)
Motor delay  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myalgia  (IAGP)
Myopathic facies  (IAGP)
Myositis  (IAGP)
Neck flexor weakness  (IAGP)
Neonatal hypotonia  (IAGP)
Open mouth  (IAGP)
Ophthalmoplegia  (IAGP)
Pachygyria  (IAGP)
Polymicrogyria  (IAGP)
Pontocerebellar atrophy  (IAGP)
Protruding tongue  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Recurrent lower respiratory tract infections  (IAGP)
Reduced left ventricular ejection fraction  (IAGP)
Reduced tendon reflexes  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Slowly progressive  (IAGP)
Waddling gait  (IAGP)
Weak cry  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Helbling-Leclerc A, etal., Nat Genet. 1995 Oct;11(2):216-8.
3. Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism. Kemaladewi DU, etal., Nat Med. 2017 Aug;23(8):984-989. doi: 10.1038/nm.4367. Epub 2017 Jul 17.
4. Expression of laminin-2 by normal and neoplastic rat C cells during the development of medullary thyroid carcinoma. Lekmine F, etal., Virchows Arch. 1999 Apr;434(4):325-32.
5. Expression of laminin alpha2 chain during normal and pathological growth of myocardium in rat and human. Oliviero P, etal., Cardiovasc Res. 2000 May;46(2):346-55.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. When do myopia genes have their effect? Comparison of genetic risks between children and adults. Tideman JW, etal., Genet Epidemiol. 2016 Dec;40(8):756-766. doi: 10.1002/gepi.21999. Epub 2016 Sep 9.
12. 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:1678389   PMID:2099832   PMID:2119632   PMID:2185464   PMID:3109910   PMID:3794389   PMID:7535762   PMID:7925941   PMID:8294519   PMID:8798547   PMID:8889548   PMID:8910357  
PMID:8939648   PMID:9131649   PMID:9158149   PMID:9271224   PMID:9597096   PMID:10225960   PMID:10616210   PMID:11054877   PMID:11071490   PMID:11311202   PMID:11584042   PMID:11591858  
PMID:11938437   PMID:12100448   PMID:12467726   PMID:12552556   PMID:12601554   PMID:12609502   PMID:14557481   PMID:15146197   PMID:15210115   PMID:15452315   PMID:16084089   PMID:16212419  
PMID:16216942   PMID:16226104   PMID:16335952   PMID:16344560   PMID:16504180   PMID:16709410   PMID:17426950   PMID:18053718   PMID:18700894   PMID:19294599   PMID:19553699   PMID:19692349  
PMID:19893454   PMID:20207543   PMID:20301468   PMID:20379614   PMID:20397748   PMID:20477750   PMID:20607928   PMID:21822266   PMID:21873635   PMID:21953594   PMID:22006699   PMID:22038115  
PMID:22261194   PMID:22420014   PMID:22654118   PMID:22675738   PMID:23376485   PMID:23396134   PMID:23414517   PMID:23948589   PMID:24144296   PMID:24225367   PMID:24347629   PMID:24529757  
PMID:24534542   PMID:24556084   PMID:24628934   PMID:24742657   PMID:24804215   PMID:25037231   PMID:25159915   PMID:25233373   PMID:25500573   PMID:25663498   PMID:25958202   PMID:25962468  
PMID:26104111   PMID:26304763   PMID:26496610   PMID:26555376   PMID:26756417   PMID:26984843   PMID:27068509   PMID:27559042   PMID:27914711   PMID:28675934   PMID:29191403   PMID:29335257  
PMID:29369589   PMID:29376585   PMID:29465610   PMID:29566247   PMID:29707938   PMID:29987050   PMID:30021884   PMID:30280653   PMID:30301903   PMID:31091453   PMID:31371375   PMID:31586073  
PMID:32213190   PMID:32444167   PMID:32792503   PMID:32904964   PMID:32910545   PMID:32936536   PMID:33541421   PMID:34156282   PMID:34565340   PMID:34638806   PMID:36241925   PMID:36362280  
PMID:36373293   PMID:36560452   PMID:37182895   PMID:37206914   PMID:37318662  


Genomics

Comparative Map Data
LAMA2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386128,883,138 - 129,516,566 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6128,883,138 - 129,516,566 (+)EnsemblGRCh38hg38GRCh38
GRCh376129,204,283 - 129,837,711 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 366129,245,979 - 129,879,404 (+)NCBINCBI36Build 36hg18NCBI36
Build 346129,246,034 - 129,879,401NCBI
Celera6129,950,556 - 130,583,793 (+)NCBICelera
Cytogenetic Map6q22.33NCBI
HuRef6126,785,527 - 127,418,362 (+)NCBIHuRef
CHM1_16129,468,357 - 130,101,369 (+)NCBICHM1_1
T2T-CHM13v2.06130,076,331 - 130,710,229 (+)NCBIT2T-CHM13v2.0
Lama2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391026,857,281 - 27,493,021 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1026,856,032 - 27,495,754 (-)EnsemblGRCm39 Ensembl
GRCm381026,981,285 - 27,617,191 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1026,980,036 - 27,619,758 (-)EnsemblGRCm38mm10GRCm38
MGSCv371026,701,091 - 27,336,748 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361026,670,819 - 27,306,267 (-)NCBIMGSCv36mm8
Celera1027,907,208 - 28,541,586 (-)NCBICelera
Cytogenetic Map10A4NCBI
cM Map1014.23NCBI
Lama2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8119,492,126 - 20,140,056 (+)NCBIGRCr8
mRatBN7.2117,672,675 - 18,320,641 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl117,672,536 - 18,320,530 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.0118,491,264 - 19,143,486 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl118,491,384 - 19,143,269 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0120,002,787 - 20,647,256 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4118,203,466 - 18,885,462 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1118,324,930 - 18,885,310 (+)NCBI
Celera116,078,601 - 16,724,118 (+)NCBICelera
Cytogenetic Map1p12NCBI
Lama2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554369,830,030 - 10,399,891 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554369,829,777 - 10,400,101 (+)NCBIChiLan1.0ChiLan1.0
LAMA2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25148,876,669 - 149,513,805 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16146,784,037 - 147,421,936 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06126,672,013 - 127,307,870 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16130,781,676 - 131,415,549 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6130,781,781 - 131,415,337 (+)Ensemblpanpan1.1panPan2
LAMA2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1167,645,461 - 68,096,506 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl167,611,122 - 68,095,914 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha168,254,521 - 68,844,637 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0167,721,690 - 68,305,337 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl167,721,701 - 68,304,715 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1167,644,723 - 68,228,165 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0167,427,961 - 68,011,313 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0168,070,825 - 68,654,877 (+)NCBIUU_Cfam_GSD_1.0
Lama2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946117,593,991 - 118,159,491 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936639259,889 - 825,065 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936639259,662 - 825,170 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMA2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl133,866,850 - 34,359,698 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1133,765,412 - 34,359,741 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2137,284,919 - 37,545,503 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAMA2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11344,074,128 - 44,688,187 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1344,073,525 - 44,531,889 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604016,239,880 - 16,874,460 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lama2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247533,336,227 - 3,793,940 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247533,194,678 - 3,794,145 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LAMA2
4323 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000426.4(LAMA2):c.2932G>A (p.Asp978Asn) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152570]|LAMA2-related muscular dystrophy [RCV002060278]|not provided [RCV000523512] Chr6:129297760 [GRCh38]
Chr6:129618905 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.12:g.(?_129287827)_(129288078_?)del deletion LAMA2-related muscular dystrophy [RCV000554601] Chr6:129287827..129288078 [GRCh38]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5813C>T (p.Ala1938Val) single nucleotide variant Congenital Muscular Dystrophy, LAMA2-related [RCV003483670]|LAMA2-related muscular dystrophy [RCV000554678] Chr6:129403907 [GRCh38]
Chr6:129725052 [GRCh37]
Chr6:6q22.33		 uncertain significance|not provided
NM_000426.4(LAMA2):c.3154A>G (p.Ser1052Gly) single nucleotide variant LAMA2-related condition [RCV003962450]|LAMA2-related muscular dystrophy [RCV000689663]|not provided [RCV000522346] Chr6:129300852 [GRCh38]
Chr6:129621997 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5978A>G (p.Asp1993Gly) single nucleotide variant Inborn genetic diseases [RCV003159679]|LAMA2-related muscular dystrophy [RCV001244060]|not provided [RCV000522410] Chr6:129438655 [GRCh38]
Chr6:129759800 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1873A>G (p.Ile625Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000686319]|not provided [RCV001796091]|not specified [RCV000516242] Chr6:129250202 [GRCh38]
Chr6:129571347 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.3290A>G (p.His1097Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000551800] Chr6:129312976 [GRCh38]
Chr6:129634121 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000544823] Chr6:129328412 [GRCh38]
Chr6:129649557 [GRCh37]
Chr6:6q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4485G>A (p.Thr1495=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000548163] Chr6:129349346 [GRCh38]
Chr6:129670491 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1301del (p.Arg434fs) deletion LAMA2-related muscular dystrophy [RCV000551953] Chr6:129165670 [GRCh38]
Chr6:129486815 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1400A>G (p.Lys467Arg) single nucleotide variant Inborn genetic diseases [RCV002525050]|LAMA2-related muscular dystrophy [RCV000560647]|Merosin deficient congenital muscular dystrophy [RCV001333431]|not provided [RCV001507676]|not specified [RCV000518091] Chr6:129177799 [GRCh38]
Chr6:129498944 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3924+2T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000015363]|LAMA2-related muscular dystrophy [RCV001857909]|Merosin deficient congenital muscular dystrophy [RCV000853232]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000985057]|not provided [RCV000518321] Chr6:129315952 [GRCh38]
Chr6:129637097 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8890G>T (p.Val2964Leu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151351]|LAMA2-related muscular dystrophy [RCV000527451] Chr6:129512395 [GRCh38]
Chr6:129833540 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2039A>G (p.Asn680Ser) single nucleotide variant Inborn genetic diseases [RCV002527940]|LAMA2-related muscular dystrophy [RCV000546757] Chr6:129252238 [GRCh38]
Chr6:129573383 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2361A>C (p.Lys787Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000527809]|not provided [RCV003126820] Chr6:129270662 [GRCh38]
Chr6:129591807 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5689G>A (p.Ala1897Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154065]|LAMA2-related muscular dystrophy [RCV000654769]|not provided [RCV001508564]|not specified [RCV000518765] Chr6:129402450 [GRCh38]
Chr6:129723595 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5866-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000542890]|Merosin deficient congenital muscular dystrophy [RCV000668522] Chr6:129427750 [GRCh38]
Chr6:129748895 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3977G>A (p.Arg1326Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000531788] Chr6:129316090 [GRCh38]
Chr6:129637235 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs) deletion Inborn genetic diseases [RCV000624581]|LAMA2-related muscular dystrophy [RCV000554369]|Merosin deficient congenital muscular dystrophy [RCV000984278]|not provided [RCV001783065] Chr6:129149008..129149009 [GRCh38]
Chr6:129470153..129470154 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7346T>C (p.Ile2449Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002527491]|not specified [RCV000517480] Chr6:129473259 [GRCh38]
Chr6:129794404 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4971G>C (p.Val1657=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000528959] Chr6:129383133 [GRCh38]
Chr6:129704278 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2036C>A (p.Ala679Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000532172] Chr6:129252235 [GRCh38]
Chr6:129573380 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.819+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000551647] Chr6:129144082 [GRCh38]
Chr6:129465227 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.61_62del (p.Gln21fs) deletion LAMA2-related muscular dystrophy [RCV002525144]|not provided [RCV000521682] Chr6:128883305..128883306 [GRCh38]
Chr6:129204450..129204451 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5726+8A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000544264] Chr6:129402495 [GRCh38]
Chr6:129723640 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2477G>A (p.Arg826Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000815597]|Merosin deficient congenital muscular dystrophy [RCV000764622]|not provided [RCV000518412] Chr6:129280087 [GRCh38]
Chr6:129601232 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2T>C (p.Met1Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000532735]|Merosin deficient congenital muscular dystrophy [RCV000672881]|not provided [RCV001090685] Chr6:128883247 [GRCh38]
Chr6:129204392 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
LAMA2, IVS30, A-T, -2 single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000015359] Chr6:6q22-q23 pathogenic
NM_000426.4(LAMA2):c.8265del (p.Glu2756fs) deletion Merosin deficient congenital muscular dystrophy [RCV000015362] Chr6:129502679 [GRCh38]
Chr6:129823824 [GRCh37]
Chr6:6q22.33		 pathogenic
LAMA2, IVS25, T-C, +2 single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000015363] Chr6:6q22-q23 pathogenic
LAMA2, 2-BP DEL, 2098AG deletion Merosin deficient congenital muscular dystrophy [RCV000015365] Chr6:6q22-q23 pathogenic
NM_000426.4(LAMA2):c.825del (p.Tyr276fs) deletion Merosin deficient congenital muscular dystrophy [RCV000015372] Chr6:129146964 [GRCh38]
Chr6:129468109 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6867+75A>G single nucleotide variant not provided [RCV001571580] Chr6:129456569 [GRCh38]
Chr6:129777714 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.946G>A (p.Asp316Asn) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153657]|LAMA2-related muscular dystrophy [RCV001086334]|Merosin deficient congenital muscular dystrophy [RCV000764621]|not provided [RCV000520035] Chr6:129149015 [GRCh38]
Chr6:129470160 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4909G>A (p.Glu1637Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153956]|Inborn genetic diseases [RCV002526746]|LAMA2-related muscular dystrophy [RCV000524771]|not provided [RCV000712188] Chr6:129369940 [GRCh38]
Chr6:129691085 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5234+1G>A single nucleotide variant Abnormality of the musculature [RCV001814178]|Inborn genetic diseases [RCV001267180]|LAMA2-related muscular dystrophy [RCV001068964]|Merosin deficient congenital muscular dystrophy [RCV000987774]|not provided [RCV000516970] Chr6:129391654 [GRCh38]
Chr6:129712799 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8733G>T (p.Arg2911Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000545975] Chr6:129507518 [GRCh38]
Chr6:129828663 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1586G>A (p.Ser529Asn) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157934]|LAMA2-related muscular dystrophy [RCV000547724]|Merosin deficient congenital muscular dystrophy [RCV001175105]|not specified [RCV000517294] Chr6:129190323 [GRCh38]
Chr6:129511468 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.2451-5C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000542703] Chr6:129280056 [GRCh38]
Chr6:129601201 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2054T>C (p.Leu685Pro) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000985077]|not provided [RCV000519160] Chr6:129252253 [GRCh38]
Chr6:129573398 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.3615G>A (p.Thr1205=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000877279]|not provided [RCV001698481] Chr6:129315535 [GRCh38]
Chr6:129636680 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6659C>T (p.Pro2220Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000810007]|not specified [RCV000516913] Chr6:129454240 [GRCh38]
Chr6:129775385 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2767G>A (p.Gly923Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000702908]|not provided [RCV000519809] Chr6:129291631 [GRCh38]
Chr6:129612776 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.2836C>T (p.Gln946Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000544291]|Merosin deficient congenital muscular dystrophy [RCV003470795] Chr6:129291700 [GRCh38]
Chr6:129612845 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8858-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001394904] Chr6:129512353 [GRCh38]
Chr6:129833498 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5079T>C (p.Asn1693=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000552700] Chr6:129391498 [GRCh38]
Chr6:129712643 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6279C>T (p.Ala2093=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156580]|LAMA2-related condition [RCV003952897]|LAMA2-related muscular dystrophy [RCV000530314]|not provided [RCV001697318] Chr6:129445671 [GRCh38]
Chr6:129766816 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.9254G>C (p.Arg3085Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000544087] Chr6:129516232 [GRCh38]
Chr6:129837377 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8180_8181del (p.Ile2727fs) deletion LAMA2-related muscular dystrophy [RCV000525853] Chr6:129492418..129492419 [GRCh38]
Chr6:129813563..129813564 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1467+1G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000778776]|LAMA2-related muscular dystrophy [RCV000544760]|not provided [RCV001783062] Chr6:129177867 [GRCh38]
Chr6:129499012 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.2794A>G (p.Ser932Gly) single nucleotide variant Inborn genetic diseases [RCV002525051]|not specified [RCV000516811] Chr6:129291658 [GRCh38]
Chr6:129612803 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7658del (p.Ser2553fs) deletion LAMA2-related muscular dystrophy [RCV000545410]|Merosin deficient congenital muscular dystrophy [RCV000666670]|not provided [RCV001783064] Chr6:129481348 [GRCh38]
Chr6:129802493 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5235-3C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000545562] Chr6:129393042 [GRCh38]
Chr6:129714187 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8244+3_8244+6del deletion LAMA2-related muscular dystrophy [RCV000528564]|Merosin deficient congenital muscular dystrophy [RCV002287894]|not provided [RCV003144307]|not specified [RCV000516540] Chr6:129492484..129492487 [GRCh38]
Chr6:129813629..129813632 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.8011C>A (p.Pro2671Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154297]|LAMA2-related muscular dystrophy [RCV000823641]|Merosin deficient congenital muscular dystrophy [RCV000764634]|not provided [RCV003133298]|not specified [RCV000517410] Chr6:129492013 [GRCh38]
Chr6:129813158 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.2084A>T (p.Asp695Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001054537]|not provided [RCV000521502] Chr6:129252283 [GRCh38]
Chr6:129573428 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1496G>A (p.Arg499His) single nucleotide variant Inborn genetic diseases [RCV002527939]|LAMA2-related muscular dystrophy [RCV000548945]|not provided [RCV003133361] Chr6:129190233 [GRCh38]
Chr6:129511378 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4471G>A (p.Asp1491Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000714624]|Merosin deficient congenital muscular dystrophy [RCV000714625]|not provided [RCV000520057]|not specified [RCV001821455] Chr6:129349332 [GRCh38]
Chr6:129670477 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.2611C>T (p.Leu871Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV000529763] Chr6:129287920 [GRCh38]
Chr6:129609065 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3718C>T (p.Gln1240Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000818341]|Merosin deficient congenital muscular dystrophy [RCV000015360]|Qualitative or quantitative defects of merosin [RCV003225924]|not provided [RCV000790720] Chr6:129315638 [GRCh38]
Chr6:129636783 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.9253C>T (p.Arg3085Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003574700]|Merosin deficient congenital muscular dystrophy [RCV000015361]|not provided [RCV000521505] Chr6:129516231 [GRCh38]
Chr6:129837376 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.7691T>C (p.Leu2564Pro) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000015364]|not specified [RCV003330391] Chr6:129481381 [GRCh38]
Chr6:129802526 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter) single nucleotide variant Congenital Muscular Dystrophy, LAMA2-related [RCV001794447]|Inborn genetic diseases [RCV002513061]|LAMA2-related condition [RCV003924836]|LAMA2-related muscular dystrophy [RCV001068136]|Merosin deficient congenital muscular dystrophy [RCV000015366]|Merosin deficient congenital muscular dystrophy [RCV000763556]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002288491]|not provided [RCV000790757] Chr6:129481422 [GRCh38]
Chr6:129802567 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2584T>C (p.Cys862Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000015367]|LAMA2-related muscular dystrophy [RCV001239611]|not provided [RCV000287266] Chr6:129287893 [GRCh38]
Chr6:129609038 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.1580G>A (p.Cys527Tyr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000015368]|LAMA2-related muscular dystrophy [RCV000822637]|not provided [RCV000078747] Chr6:129190317 [GRCh38]
Chr6:129511462 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.4645C>T (p.Arg1549Ter) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000015369]|LAMA2-related muscular dystrophy [RCV001203616]|Merosin deficient congenital muscular dystrophy [RCV000674731] Chr6:129353285 [GRCh38]
Chr6:129674430 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7147C>T (p.Arg2383Ter) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000015370]|LAMA2-related disorders [RCV002444431]|LAMA2-related muscular dystrophy [RCV000654712]|Merosin deficient congenital muscular dystrophy [RCV000179066]|Merosin deficient congenital muscular dystrophy [RCV002476971]|not provided [RCV000790693] Chr6:129464444 [GRCh38]
Chr6:129785589 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2901C>A (p.Cys967Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000824626]|Merosin deficient congenital muscular dystrophy [RCV000015371]|not provided [RCV001091209] Chr6:129297729 [GRCh38]
Chr6:129618874 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7750-1713_7899-2153del deletion Merosin deficient congenital muscular dystrophy [RCV000015373] Chr6:129484761..129489748 [GRCh38]
Chr6:129805906..129810893 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.3(LAMA2):c.112+73469G>T single nucleotide variant Lung cancer [RCV000096522] Chr6:128956826 [GRCh38]
Chr6:129277971 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3(LAMA2):c.1782+21937G>C single nucleotide variant Lung cancer [RCV000096523] Chr6:129214790 [GRCh38]
Chr6:129535935 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3(LAMA2):c.2857-438G>A single nucleotide variant Lung cancer [RCV000096524] Chr6:129297247 [GRCh38]
Chr6:129618392 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs) duplication Inborn genetic diseases [RCV000624032]|LAMA2-related muscular dystrophy [RCV000533416]|Merosin deficient congenital muscular dystrophy [RCV000031898]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003137547]|not provided [RCV000486702] Chr6:129250182..129250183 [GRCh38]
Chr6:129571327..129571328 [GRCh37]
Chr6:6q22.33		 pathogenic|not provided
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs) microsatellite LAMA2-related muscular dystrophy [RCV000557045]|Merosin deficient congenital muscular dystrophy [RCV000031899]|not provided [RCV000078754]|not specified [RCV000230453] Chr6:129252244..129252245 [GRCh38]
Chr6:129573393..129573394 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001352555]|Merosin deficient congenital muscular dystrophy [RCV000031900]|not provided [RCV003144116] Chr6:129486605 [GRCh38]
Chr6:129807750 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1 copy number loss See cases [RCV000051196] Chr6:108944899..132067720 [GRCh38]
Chr6:109266102..132388860 [GRCh37]
Chr6:109372795..132430553 [NCBI36]
Chr6:6q21-23.2		 pathogenic
GRCh38/hg38 6q22.32-22.33(chr6:126255554-129431726)x1 copy number loss See cases [RCV000052199] Chr6:126255554..129431726 [GRCh38]
Chr6:126576700..129752871 [GRCh37]
Chr6:126618393..129794564 [NCBI36]
Chr6:6q22.32-22.33		 pathogenic
NM_000426.3(LAMA2):c.1046A>G (p.Lys349Arg) single nucleotide variant Malignant melanoma [RCV000067113] Chr6:129154523 [GRCh38]
Chr6:129475668 [GRCh37]
Chr6:129517361 [NCBI36]
Chr6:6q22.33		 not provided
NM_000426.4(LAMA2):c.3861C>T (p.Ile1287=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000936388]|Merosin deficient congenital muscular dystrophy [RCV000665216] Chr6:129315887 [GRCh38]
Chr6:129637032 [GRCh37]
Chr6:129678725 [NCBI36]
Chr6:6q22.33		 likely benign|not provided
NM_000426.4(LAMA2):c.5443G>C (p.Glu1815Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000662051]|LAMA2-related muscular dystrophy [RCV000662050]|Merosin deficient congenital muscular dystrophy [RCV000662052] Chr6:129393253 [GRCh38]
Chr6:129714398 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6539A>T (p.Asp2180Val) single nucleotide variant Inborn genetic diseases [RCV000622662]|LAMA2-related condition [RCV003964983]|LAMA2-related muscular dystrophy [RCV001079381]|not provided [RCV000117448] Chr6:129453097 [GRCh38]
Chr6:129774242 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7390_7391delinsTT (p.Ala2464Leu) indel LAMA2-related muscular dystrophy [RCV002530570]|Merosin deficient congenital muscular dystrophy [RCV000660436] Chr6:129473303..129473304 [GRCh38]
Chr6:129794448..129794449 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.101A>G (p.His34Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001209509]|not provided [RCV000078744] Chr6:128883346 [GRCh38]
Chr6:129204491 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.112+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001064438]|Merosin deficient congenital muscular dystrophy [RCV001810421]|Merosin deficient congenital muscular dystrophy [RCV003466973]|not provided [RCV000790741] Chr6:128883358 [GRCh38]
Chr6:129204503 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.156C>T (p.Ile52=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000332492]|LAMA2-related muscular dystrophy [RCV001520539]|Merosin deficient congenital muscular dystrophy [RCV000576451]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730495]|not specified [RCV000078746] Chr6:129049961 [GRCh38]
Chr6:129371106 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157936]|LAMA2-related condition [RCV003894927]|LAMA2-related muscular dystrophy [RCV001081996]|not provided [RCV000710155]|not specified [RCV000078748] Chr6:129192692 [GRCh38]
Chr6:129513837 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1634T>A (p.Leu545Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157937]|Inborn genetic diseases [RCV002514385]|LAMA2-related condition [RCV003891536]|LAMA2-related muscular dystrophy [RCV001081152]|not provided [RCV000428463]|not specified [RCV000078749] Chr6:129192705 [GRCh38]
Chr6:129513850 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1798G>A (p.Gly600Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152471]|LAMA2-related muscular dystrophy [RCV000555236]|not provided [RCV001729381]|not specified [RCV000078750] Chr6:129250127 [GRCh38]
Chr6:129571272 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000426.4(LAMA2):c.184G>T (p.Gly62Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001232128]|Merosin deficient congenital muscular dystrophy [RCV002498383]|not provided [RCV000175608] Chr6:129049989 [GRCh38]
Chr6:129371134 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000285061]|LAMA2-related muscular dystrophy [RCV001520541]|Merosin deficient congenital muscular dystrophy [RCV000576727]|not specified [RCV000078752] Chr6:129250185 [GRCh38]
Chr6:129571330 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2037G>C (p.Ala679=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403283]|Merosin deficient congenital muscular dystrophy [RCV000669485]|not provided [RCV000078753] Chr6:129252236 [GRCh38]
Chr6:129573381 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000290735]|LAMA2-related muscular dystrophy [RCV001085842]|not provided [RCV000723694]|not specified [RCV000078755] Chr6:129260729 [GRCh38]
Chr6:129581874 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.2375T>C (p.Phe792Ser) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000670263]|not provided [RCV000078756] Chr6:129270676 [GRCh38]
Chr6:129591821 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2750-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003574708]|not provided [RCV000176037] Chr6:129291613 [GRCh38]
Chr6:129612758 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2756G>T (p.Arg919Leu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000260583]|LAMA2-related muscular dystrophy [RCV000555805]|not specified [RCV000078758] Chr6:129291620 [GRCh38]
Chr6:129612765 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000315857]|LAMA2-related muscular dystrophy [RCV001520542]|Merosin deficient congenital muscular dystrophy [RCV000576344]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730496]|not specified [RCV000078759] Chr6:129291663 [GRCh38]
Chr6:129612808 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2962C>T (p.Gln988Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001854388]|Merosin deficient congenital muscular dystrophy [RCV000176160]|not provided [RCV000790837] Chr6:129297790 [GRCh38]
Chr6:129618935 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3411+13G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000291321]|LAMA2-related muscular dystrophy [RCV001520543]|Merosin deficient congenital muscular dystrophy [RCV000607584]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730497]|not specified [RCV000078761] Chr6:129313110 [GRCh38]
Chr6:129634255 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000327660]|LAMA2-related muscular dystrophy [RCV001519183]|Merosin deficient congenital muscular dystrophy [RCV000614705]|not provided [RCV001698960]|not specified [RCV000078762] Chr6:129314655 [GRCh38]
Chr6:129635800 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.3556-15T>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000351176]|LAMA2-related muscular dystrophy [RCV002055099]|not provided [RCV001795055]|not specified [RCV000078763] Chr6:129315461 [GRCh38]
Chr6:129636606 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3630del (p.Ile1210fs) deletion LAMA2-related muscular dystrophy [RCV000824139]|Merosin deficient congenital muscular dystrophy [RCV000984277]|not provided [RCV000078764] Chr6:129315549 [GRCh38]
Chr6:129636694 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000374091]|LAMA2-related muscular dystrophy [RCV001520540]|Merosin deficient congenital muscular dystrophy [RCV000576547]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730498]|not specified [RCV000078766] Chr6:129059881 [GRCh38]
Chr6:129381026 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000801722]|Merosin deficient congenital muscular dystrophy [RCV000176719]|Merosin deficient congenital muscular dystrophy [RCV000763553]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003137619]|not provided [RCV000078767] Chr6:129316089 [GRCh38]
Chr6:129637234 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4312-19_4312-17del microsatellite not provided [RCV000078768] Chr6:129342319..129342321 [GRCh38]
Chr6:129663464..129663466 [GRCh37]
Chr6:6q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4437-5T>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152674]|LAMA2-related muscular dystrophy [RCV001082122]|not provided [RCV000514874]|not specified [RCV000078769] Chr6:129349293 [GRCh38]
Chr6:129670438 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.4470C>T (p.Asp1490=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152675]|LAMA2-related muscular dystrophy [RCV000537795]|not provided [RCV001795056]|not specified [RCV000078770] Chr6:129349331 [GRCh38]
Chr6:129670476 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.4523+19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001514834]|Merosin deficient congenital muscular dystrophy [RCV000602189]|not provided [RCV001699032]|not specified [RCV000078771] Chr6:129349403 [GRCh38]
Chr6:129670548 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.4523+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001203362]|not provided [RCV000177512] Chr6:129349385 [GRCh38]
Chr6:129670530 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4750G>A (p.Gly1584Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153954]|LAMA2-related muscular dystrophy [RCV000547817]|not provided [RCV001699199]|not specified [RCV000078773] Chr6:129366251 [GRCh38]
Chr6:129687396 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000426.4(LAMA2):c.4956C>G (p.Thr1652=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000264034]|LAMA2-related muscular dystrophy [RCV001514835]|Merosin deficient congenital muscular dystrophy [RCV000576683]|not specified [RCV000078774] Chr6:129369987 [GRCh38]
Chr6:129691132 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.5050G>T (p.Glu1684Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003736570]|Merosin deficient congenital muscular dystrophy [RCV000177827]|not provided [RCV000790793] Chr6:129383212 [GRCh38]
Chr6:129704357 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5072-6del deletion Congenital Muscular Dystrophy, LAMA2-related [RCV000272218]|LAMA2-related muscular dystrophy [RCV000546899]|not provided [RCV001682761]|not specified [RCV000078776] Chr6:129391481 [GRCh38]
Chr6:129712626 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000387332]|LAMA2-related muscular dystrophy [RCV001514345]|Merosin deficient congenital muscular dystrophy [RCV000576351]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730499]|not specified [RCV000078777] Chr6:129401244 [GRCh38]
Chr6:129722389 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000338699]|LAMA2-related muscular dystrophy [RCV001514346]|Merosin deficient congenital muscular dystrophy [RCV000614209]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730500]|not specified [RCV000078778] Chr6:129401280 [GRCh38]
Chr6:129722425 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5530C>A (p.Arg1844Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152792]|LAMA2-related muscular dystrophy [RCV000525182]|Merosin deficient congenital muscular dystrophy [RCV001258302]|Polymicrogyria [RCV000656110]|not provided [RCV000224783]|not specified [RCV000078779] Chr6:129401308 [GRCh38]
Chr6:129722453 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_000426.4(LAMA2):c.5633C>T (p.Ser1878Phe) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152796]|LAMA2-related muscular dystrophy [RCV000872576]|not provided [RCV001719818]|not specified [RCV000078780] Chr6:129402394 [GRCh38]
Chr6:129723539 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.5706_5712del (p.Asp1902fs) deletion LAMA2-related muscular dystrophy [RCV001854389]|Merosin deficient congenital muscular dystrophy [RCV000177968]|not provided [RCV000790830] Chr6:129402467..129402473 [GRCh38]
Chr6:129723612..129723618 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter) single nucleotide variant Inborn genetic diseases [RCV002513825]|LAMA2-related muscular dystrophy [RCV000546384]|Merosin deficient congenital muscular dystrophy [RCV000178452]|not provided [RCV000790831] Chr6:129427800 [GRCh38]
Chr6:129748945 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6011del (p.Asn2004fs) deletion not provided [RCV000178482] Chr6:129438685 [GRCh38]
Chr6:129759830 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6038del (p.Leu2012_Leu2013insTer) deletion Abnormality of the musculature [RCV001814047]|not provided [RCV000078784] Chr6:129438714 [GRCh38]
Chr6:129759859 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6150T>C (p.Asp2050=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154909]|LAMA2-related muscular dystrophy [RCV000560842]|Merosin deficient congenital muscular dystrophy [RCV002498384]|not provided [RCV001719819]|not specified [RCV000078785] Chr6:129440880 [GRCh38]
Chr6:129762025 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.6237G>A (p.Thr2079=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000314145]|LAMA2-related muscular dystrophy [RCV001514836]|not specified [RCV000078786] Chr6:129440967 [GRCh38]
Chr6:129762112 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.6322C>T (p.Arg2108Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002513826]|Merosin deficient congenital muscular dystrophy [RCV000665158]|Merosin deficient congenital muscular dystrophy [RCV002483133]|not provided [RCV000078787] Chr6:129445714 [GRCh38]
Chr6:129766859 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000805108]|Merosin deficient congenital muscular dystrophy [RCV000987776]|not provided [RCV000078788] Chr6:129453109 [GRCh38]
Chr6:129774254 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6563G>A (p.Ser2188Asn) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000315651]|LAMA2-related muscular dystrophy [RCV000529233]|Merosin deficient congenital muscular dystrophy [RCV000664766]|Merosin deficient congenital muscular dystrophy [RCV002477224]|not provided [RCV000078789]|not specified [RCV003987351] Chr6:129453121 [GRCh38]
Chr6:129774266 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6786G>A (p.Ser2262=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001085072]|Merosin deficient congenital muscular dystrophy [RCV000667651]|not provided [RCV000078790] Chr6:129456413 [GRCh38]
Chr6:129777558 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6955C>T (p.Arg2319Ter) single nucleotide variant Elevated circulating creatine kinase concentration [RCV000626687]|LAMA2-related muscular dystrophy [RCV001202930]|Merosin deficient congenital muscular dystrophy [RCV000178685]|not provided [RCV000760398] Chr6:129460287 [GRCh38]
Chr6:129781432 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) single nucleotide variant LAMA2-related condition [RCV003915051]|LAMA2-related muscular dystrophy [RCV001081479]|not provided [RCV000723641] Chr6:129464408 [GRCh38]
Chr6:129785553 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.713C>A (p.Ala238Asp) single nucleotide variant not provided [RCV000078793] Chr6:129143974 [GRCh38]
Chr6:129465119 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7279_7280del (p.Leu2427fs) microsatellite LAMA2-related muscular dystrophy [RCV000528177]|Merosin deficient congenital muscular dystrophy [RCV003466974]|not provided [RCV000179084] Chr6:129465266..129465267 [GRCh38]
Chr6:129786411..129786412 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000404201]|LAMA2-related muscular dystrophy [RCV001084543]|not provided [RCV000710156]|not specified [RCV000253133] Chr6:129473308 [GRCh38]
Chr6:129794453 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7440-20del deletion not provided [RCV000078797] Chr6:129475361 [GRCh38]
Chr6:129796506 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7536del (p.Asp2513fs) deletion LAMA2-related muscular dystrophy [RCV001041852]|not provided [RCV000179138] Chr6:129478775 [GRCh38]
Chr6:129799920 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000262042]|LAMA2-related muscular dystrophy [RCV001520544]|Merosin deficient congenital muscular dystrophy [RCV000576758]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730501]|not specified [RCV000078800] Chr6:129486554 [GRCh38]
Chr6:129807699 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000300807]|LAMA2-related muscular dystrophy [RCV001510679]|Merosin deficient congenital muscular dystrophy [RCV000608907]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730502]|not specified [RCV000078801] Chr6:129486569 [GRCh38]
Chr6:129807714 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000353465]|LAMA2-related muscular dystrophy [RCV001515059]|Merosin deficient congenital muscular dystrophy [RCV000613859]|not specified [RCV000078802] Chr6:129491908 [GRCh38]
Chr6:129813053 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.830C>T (p.Ser277Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809231]|Merosin deficient congenital muscular dystrophy [RCV000669930]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003387755]|not provided [RCV000078803] Chr6:129146969 [GRCh38]
Chr6:129468114 [GRCh37]
Chr6:6q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8548-10T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155136]|LAMA2-related muscular dystrophy [RCV001082462]|Merosin deficient congenital muscular dystrophy [RCV002490680]|not provided [RCV000712197]|not specified [RCV000078804] Chr6:129505190 [GRCh38]
Chr6:129826335 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) deletion LAMA2-related muscular dystrophy [RCV001854390]|Merosin deficient congenital muscular dystrophy [RCV000987779]|not provided [RCV000078805] Chr6:129505206..129505208 [GRCh38]
Chr6:129826351..129826353 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001082052]|not provided [RCV000712199] Chr6:129505344 [GRCh38]
Chr6:129826489 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.9101_9104dup (p.His3035fs) duplication LAMA2-related muscular dystrophy [RCV001205139]|not provided [RCV000078807] Chr6:129514482..129514483 [GRCh38]
Chr6:129835627..129835628 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9212-1G>A single nucleotide variant Inborn genetic diseases [RCV002513827]|LAMA2-related muscular dystrophy [RCV001319032]|not provided [RCV000179649] Chr6:129516189 [GRCh38]
Chr6:129837334 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.1491T>C (p.Cys497=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000276606]|LAMA2-related muscular dystrophy [RCV000537724]|not provided [RCV001699205]|not specified [RCV000117440] Chr6:129190228 [GRCh38]
Chr6:129511373 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.1533T>C (p.Asn511=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000386269]|LAMA2-related muscular dystrophy [RCV000527345]|not specified [RCV000117441] Chr6:129190270 [GRCh38]
Chr6:129511415 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.1930C>G (p.His644Asp) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000339942]|LAMA2-related muscular dystrophy [RCV000543748]|not specified [RCV000117442] Chr6:129252129 [GRCh38]
Chr6:129573274 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000338272]|LAMA2-related muscular dystrophy [RCV001086565]|not provided [RCV000723795]|not specified [RCV000117443] Chr6:129050060 [GRCh38]
Chr6:129371205 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3296A>G (p.Asn1099Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000321745]|Intellectual disability [RCV001252053]|LAMA2-related muscular dystrophy [RCV001080565]|Merosin deficient congenital muscular dystrophy [RCV002498515]|not provided [RCV000514587]|not specified [RCV000117444] Chr6:129312982 [GRCh38]
Chr6:129634127 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.3613A>G (p.Thr1205Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000390585]|LAMA2-related muscular dystrophy [RCV000528731]|Merosin deficient congenital muscular dystrophy [RCV002490799]|not specified [RCV000117445] Chr6:129315533 [GRCh38]
Chr6:129636678 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.6167C>A (p.Thr2056Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000310883]|LAMA2-related muscular dystrophy [RCV000534316]|not specified [RCV000117446] Chr6:129440897 [GRCh38]
Chr6:129762042 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.6234A>G (p.Lys2078=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000270728]|LAMA2-related muscular dystrophy [RCV000542357]|not specified [RCV000117447] Chr6:129440964 [GRCh38]
Chr6:129762109 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155022]|LAMA2-related muscular dystrophy [RCV001086841]|Merosin deficient congenital muscular dystrophy [RCV000987777]|not provided [RCV000224349]|not specified [RCV000117449] Chr6:129473344 [GRCh38]
Chr6:129794489 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.8028T>C (p.Asn2676=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000260925]|LAMA2-related muscular dystrophy [RCV000537110]|Merosin deficient congenital muscular dystrophy [RCV000576372]|not provided [RCV001795170]|not specified [RCV000117450] Chr6:129492030 [GRCh38]
Chr6:129813175 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.8124T>A (p.Gly2708=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000322869]|LAMA2-related muscular dystrophy [RCV000547587]|not provided [RCV001574023]|not specified [RCV000117451] Chr6:129492363 [GRCh38]
Chr6:129813508 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.8528A>G (p.Asn2843Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000321859]|LAMA2-related muscular dystrophy [RCV001082331]|Merosin deficient congenital muscular dystrophy [RCV000576572]|Merosin deficient congenital muscular dystrophy [RCV002483197]|not provided [RCV000224243]|not specified [RCV000117452] Chr6:129503261 [GRCh38]
Chr6:129824406 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.8691A>G (p.Arg2897=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000324915]|LAMA2-related muscular dystrophy [RCV000546184]|Merosin deficient congenital muscular dystrophy [RCV002498516]|not specified [RCV000117453] Chr6:129505343 [GRCh38]
Chr6:129826488 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.9123C>T (p.Val3041=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000293588]|LAMA2-related muscular dystrophy [RCV001086212]|not provided [RCV000526134]|not specified [RCV000117454] Chr6:129514507 [GRCh38]
Chr6:129835652 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.113-14T>A single nucleotide variant not specified [RCV000603102] Chr6:129049904 [GRCh38]
Chr6:129371049 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-14A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002184871] Chr6:129460186 [GRCh38]
Chr6:129781331 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2735C>T (p.Ala912Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002568758]|Primary dilated cardiomyopathy [RCV001293114] Chr6:129288044 [GRCh38]
Chr6:129609189 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4348C>T (p.Arg1450Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000696321]|Merosin deficient congenital muscular dystrophy [RCV000665977]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001375997]|not provided [RCV000171401] Chr6:129342379 [GRCh38]
Chr6:129663524 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1701C>T (p.Ile567=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000373639]|LAMA2-related muscular dystrophy [RCV000524657]|not specified [RCV000174245] Chr6:129192772 [GRCh38]
Chr6:129513917 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1454C>T (p.Pro485Leu) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001333432] Chr6:129177853 [GRCh38]
Chr6:129498998 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2749+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000799916]|Merosin deficient congenital muscular dystrophy [RCV000175397]|not provided [RCV000724720] Chr6:129288059 [GRCh38]
Chr6:129609204 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1855_1856insATGTTCAC (p.Arg619fs) insertion not provided [RCV000174478] Chr6:129250182..129250183 [GRCh38]
Chr6:129571327..129571328 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1762del (p.Ala588fs) deletion not provided [RCV000171527] Chr6:129192832 [GRCh38]
Chr6:129513977 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2097-5C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001394515] Chr6:129260706 [GRCh38]
Chr6:129581851 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7810C>T (p.Arg2604Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001225446]|Merosin deficient congenital muscular dystrophy [RCV003468868]|not provided [RCV000179173] Chr6:129486534 [GRCh38]
Chr6:129807679 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5260del (p.Lys1753_Val1754insTer) deletion LAMA2-related muscular dystrophy [RCV000533733]|Merosin deficient congenital muscular dystrophy [RCV000177896]|not provided [RCV000482229] Chr6:129393070 [GRCh38]
Chr6:129714215 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5562+5G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000700168]|Merosin deficient congenital muscular dystrophy [RCV000177930]|Merosin deficient congenital muscular dystrophy [RCV002478589]|not provided [RCV000723487] Chr6:129401345 [GRCh38]
Chr6:129722490 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.524_534dup (p.Leu179delinsSerAlaTer) duplication not provided [RCV000178101] Chr6:129098298..129098299 [GRCh38]
Chr6:129419443..129419444 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8982T>C (p.Asp2994=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000351867]|LAMA2-related muscular dystrophy [RCV000548135]|not provided [RCV001682891]|not specified [RCV000179610] Chr6:129512487 [GRCh38]
Chr6:129833632 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
Single allele duplication Merosin deficient congenital muscular dystrophy [RCV000179635] Chr6:129835633..129835634 [GRCh37] pathogenic
NM_000426.4(LAMA2):c.7630del (p.Ile2544fs) deletion Merosin deficient congenital muscular dystrophy [RCV001290965]|not provided [RCV003490170] Chr6:129481319 [GRCh38]
Chr6:129802464 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.13G>A (p.Ala5Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000818174]|not provided [RCV000173131] Chr6:128883258 [GRCh38]
Chr6:129204403 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2054T>G (p.Leu685Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002538395]|Merosin deficient congenital muscular dystrophy [RCV001290964] Chr6:129252253 [GRCh38]
Chr6:129573398 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1783-114C>T single nucleotide variant not provided [RCV001572530] Chr6:129249998 [GRCh38]
Chr6:129571143 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.527G>A (p.Cys176Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001349553] Chr6:129098303 [GRCh38]
Chr6:129419448 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5935A>T (p.Asn1979Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001294309] Chr6:129427821 [GRCh38]
Chr6:129748966 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3(LAMA2):c.6993_7155del163 (p.Ser2331Argfs) deletion Merosin deficient congenital muscular dystrophy [RCV000256450] Chr6:129464289..129464451 [GRCh38]
Chr6:129785434..129785596 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3002A>C (p.His1001Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001349504]|not provided [RCV003132450] Chr6:129297830 [GRCh38]
Chr6:129618975 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8665G>A (p.Gly2889Arg) single nucleotide variant Abnormality of the musculature [RCV001814136]|Merosin deficient congenital muscular dystrophy [RCV000256378] Chr6:129505317 [GRCh38]
Chr6:129826462 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|not provided
NM_000426.4(LAMA2):c.1782+10C>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000379516]|LAMA2-related condition [RCV003937560]|LAMA2-related muscular dystrophy [RCV001086461]|not provided [RCV000174246] Chr6:129192863 [GRCh38]
Chr6:129514008 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1816A>G (p.Ile606Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240233]|not provided [RCV000724306] Chr6:129250145 [GRCh38]
Chr6:129571290 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.1882G>A (p.Glu628Lys) single nucleotide variant not provided [RCV000174479] Chr6:129250211 [GRCh38]
Chr6:129571356 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2186G>T (p.Gly729Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000536331]|not provided [RCV000174846] Chr6:129260800 [GRCh38]
Chr6:129581945 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2289G>A (p.Ala763=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001852135]|not provided [RCV000175009] Chr6:129267186 [GRCh38]
Chr6:129588331 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2382C>T (p.Gly794=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001086152]|not provided [RCV000724616] Chr6:129270683 [GRCh38]
Chr6:129591828 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.725G>A (p.Arg242His) single nucleotide variant LAMA2-related muscular dystrophy [RCV000699328]|Merosin deficient congenital muscular dystrophy [RCV002485333]|not provided [RCV003165483]|not specified [RCV000202870] Chr6:129143986 [GRCh38]
Chr6:129465131 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh38/hg38 6q22.33(chr6:129038932-129335187)x1 copy number loss See cases [RCV000138294] Chr6:129038932..129335187 [GRCh38]
Chr6:129360077..129656332 [GRCh37]
Chr6:129401770..129698025 [NCBI36]
Chr6:6q22.33		 uncertain significance
GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3 copy number gain See cases [RCV000139729] Chr6:74382807..142040500 [GRCh38]
Chr6:75092523..142361637 [GRCh37]
Chr6:75149243..142403330 [NCBI36]
Chr6:6q13-24.1		 pathogenic
GRCh38/hg38 6q22.33-23.2(chr6:129191313-132131620)x1 copy number loss See cases [RCV000142349] Chr6:129191313..132131620 [GRCh38]
Chr6:129512458..132452760 [GRCh37]
Chr6:129554151..132494453 [NCBI36]
Chr6:6q22.33-23.2		 likely pathogenic
GRCh38/hg38 6q22.32-23.2(chr6:126494533-132497855)x1 copy number loss See cases [RCV000142805] Chr6:126494533..132497855 [GRCh38]
Chr6:126815679..132818994 [GRCh37]
Chr6:126857372..132860687 [NCBI36]
Chr6:6q22.32-23.2		 likely pathogenic
NM_000426.4(LAMA2):c.2476C>T (p.Arg826Trp) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000315412]|LAMA2-related muscular dystrophy [RCV001082044]|not provided [RCV000224933]|not specified [RCV000153434] Chr6:129280086 [GRCh38]
Chr6:129601231 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) single nucleotide variant LAMA2-related condition [RCV003927482]|LAMA2-related muscular dystrophy [RCV001085453]|Merosin deficient congenital muscular dystrophy [RCV000603493]|not provided [RCV000654768]|not specified [RCV000153442] Chr6:129507540 [GRCh38]
Chr6:129828685 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.437C>T (p.Ser146Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV000802006]|Merosin deficient congenital muscular dystrophy [RCV000674785]|not provided [RCV000505761] Chr6:129098213 [GRCh38]
Chr6:129419358 [GRCh37]
Chr6:6q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1364G>A (p.Arg455Gln) single nucleotide variant Inborn genetic diseases [RCV002514871]|LAMA2-related muscular dystrophy [RCV001850031]|Merosin deficient congenital muscular dystrophy [RCV000665308] Chr6:129177763 [GRCh38]
Chr6:129498908 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1391C>T (p.Pro464Leu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156262]|LAMA2-related muscular dystrophy [RCV001040070]|Merosin deficient congenital muscular dystrophy [RCV002505140]|not provided [RCV003133149] Chr6:129177790 [GRCh38]
Chr6:129498935 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3532G>A (p.Ala1178Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156479]|Intellectual disability [RCV001252051]|LAMA2-related condition [RCV003415989]|LAMA2-related muscular dystrophy [RCV000550298]|Merosin deficient congenital muscular dystrophy [RCV000764624]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001270116]|not provided [RCV000712184] Chr6:129314775 [GRCh38]
Chr6:129635920 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4232G>A (p.Gly1411Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001294418]|Merosin deficient congenital muscular dystrophy [RCV000667952] Chr6:129328333 [GRCh38]
Chr6:129649478 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7250A>G (p.His2417Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155019]|Inborn genetic diseases [RCV002516011]|LAMA2-related muscular dystrophy [RCV000549623]|Merosin deficient congenital muscular dystrophy [RCV000665052]|Merosin deficient congenital muscular dystrophy [RCV002492550]|not provided [RCV000724876] Chr6:129465239 [GRCh38]
Chr6:129786384 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7888C>T (p.Arg2630Ter) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000779487]|LAMA2-related muscular dystrophy [RCV000824022]|Merosin deficient congenital muscular dystrophy [RCV000668682]|not provided [RCV001781490] Chr6:129486612 [GRCh38]
Chr6:129807757 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.8326A>T (p.Ile2776Phe) single nucleotide variant Inborn genetic diseases [RCV002514872]|LAMA2-related muscular dystrophy [RCV002516012]|Merosin deficient congenital muscular dystrophy [RCV000667550]|not provided [RCV003133150] Chr6:129502740 [GRCh38]
Chr6:129823885 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8690G>A (p.Arg2897Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156798]|LAMA2-related muscular dystrophy [RCV000805156]|not provided [RCV000149991] Chr6:129505342 [GRCh38]
Chr6:129826487 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9145C>G (p.Gln3049Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154393]|LAMA2-related muscular dystrophy [RCV000707347]|Merosin deficient congenital muscular dystrophy [RCV000674500]|not provided [RCV000767113]|not specified [RCV000227406] Chr6:129514529 [GRCh38]
Chr6:129835674 [GRCh37]
Chr6:6q22.33		 likely pathogenic|likely benign|uncertain significance
NM_000426.4(LAMA2):c.9211+6T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154395]|Inborn genetic diseases [RCV002514873]|LAMA2-related muscular dystrophy [RCV001084465]|Merosin deficient congenital muscular dystrophy [RCV000515327]|Merosin deficient congenital muscular dystrophy [RCV001810426]|not provided [RCV000723450]|not specified [RCV000253869] Chr6:129514601 [GRCh38]
Chr6:129835746 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156369]|Intellectual disability [RCV001252050]|LAMA2-related muscular dystrophy [RCV001084610]|Merosin deficient congenital muscular dystrophy [RCV000670870]|not provided [RCV000723613]|not specified [RCV000149994] Chr6:129280072 [GRCh38]
Chr6:129601217 [GRCh37]
Chr6:6q22.33		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.675C>T (p.Ala225=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152377]|LAMA2-related muscular dystrophy [RCV001082765]|not provided [RCV000712194]|not specified [RCV000153432] Chr6:129143936 [GRCh38]
Chr6:129465081 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.5247C>T (p.Ala1749=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001080701]|not provided [RCV000560236]|not specified [RCV000153436] Chr6:129393057 [GRCh38]
Chr6:129714202 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001519184]|Merosin deficient congenital muscular dystrophy [RCV000987778]|not specified [RCV000153440] Chr6:129486484 [GRCh38]
Chr6:129807629 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.623C>A (p.Pro208His) single nucleotide variant Inborn genetic diseases [RCV000623289]|LAMA2-related muscular dystrophy [RCV001240997]|not provided [RCV000153431] Chr6:129098399 [GRCh38]
Chr6:129419544 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156366]|LAMA2-related muscular dystrophy [RCV001081776]|not provided [RCV000723772]|not specified [RCV000153433] Chr6:129267201 [GRCh38]
Chr6:129588346 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3623_3645del (p.Lys1208fs) deletion LAMA2-related muscular dystrophy [RCV000798417]|Merosin deficient congenital muscular dystrophy [RCV000591983]|not provided [RCV000790714] Chr6:129315540..129315562 [GRCh38]
Chr6:129636685..129636707 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5688C>T (p.His1896=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000394813]|LAMA2-related muscular dystrophy [RCV001083632]|not provided [RCV000654781]|not specified [RCV000194567] Chr6:129402449 [GRCh38]
Chr6:129723594 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.5749A>T (p.Ile1917Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001239177]|not provided [RCV000153438] Chr6:129403843 [GRCh38]
Chr6:129724988 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001080713]|not provided [RCV000723769] Chr6:129454278 [GRCh38]
Chr6:129775423 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8126G>A (p.Arg2709His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002516079]|not provided [RCV000153441] Chr6:129492365 [GRCh38]
Chr6:129813510 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2993G>A (p.Arg998His) single nucleotide variant Inborn genetic diseases [RCV002517692]|LAMA2-related muscular dystrophy [RCV001238989]|not provided [RCV000176161] Chr6:129297821 [GRCh38]
Chr6:129618966 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2831A>G (p.Gln944Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152568]|Inborn genetic diseases [RCV002516698]|LAMA2-related muscular dystrophy [RCV000691035]|not provided [RCV000176036] Chr6:129291695 [GRCh38]
Chr6:129612840 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002515056]|Merosin deficient congenital muscular dystrophy [RCV000157587]|not provided [RCV002469031] Chr6:128883277 [GRCh38]
Chr6:129204422 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.7991del (p.Gly2664fs) deletion LAMA2-related muscular dystrophy [RCV001048138]|Merosin deficient congenital muscular dystrophy [RCV003469198]|not provided [RCV000254908] Chr6:129491989 [GRCh38]
Chr6:129813134 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5021G>A (p.Arg1674Lys) single nucleotide variant LAMA2-related condition [RCV003927787]|LAMA2-related muscular dystrophy [RCV000875855]|not provided [RCV003129798]|not specified [RCV000192867] Chr6:129383183 [GRCh38]
Chr6:129704328 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
Single allele deletion Charcot-Marie-Tooth disease [RCV000170335] Chr6:129040519..129222690 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3279C>T (p.Cys1093=) single nucleotide variant LAMA2-related condition [RCV003907694]|LAMA2-related muscular dystrophy [RCV001504467]|Merosin deficient congenital muscular dystrophy [RCV000670884]|not specified [RCV000193502] Chr6:129312965 [GRCh38]
Chr6:129634110 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5563-2A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000169663] Chr6:129402322 [GRCh38]
Chr6:129723467 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5670G>T (p.Val1890=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001412571]|See cases [RCV002252046]|not specified [RCV000193715] Chr6:129402431 [GRCh38]
Chr6:129723576 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.479A>T (p.Asp160Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000685181]|not provided [RCV000178100] Chr6:129098255 [GRCh38]
Chr6:129419400 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1308T>G (p.Gly436=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000364705]|LAMA2-related condition [RCV003927786]|LAMA2-related muscular dystrophy [RCV001083810]|not provided [RCV000512960]|not specified [RCV000194438] Chr6:129177707 [GRCh38]
Chr6:129498852 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) single nucleotide variant LAMA2-related condition [RCV003947518]|LAMA2-related muscular dystrophy [RCV001081296]|not provided [RCV000724137] Chr6:129438679 [GRCh38]
Chr6:129759824 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154910]|Inborn genetic diseases [RCV002516776]|Intellectual disability [RCV001252049]|LAMA2-related muscular dystrophy [RCV000549092]|Merosin deficient congenital muscular dystrophy [RCV000509541]|not provided [RCV000178515]|not specified [RCV000192788] Chr6:129440891 [GRCh38]
Chr6:129762036 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152900]|LAMA2-related condition [RCV003955067]|LAMA2-related muscular dystrophy [RCV001082197]|not provided [RCV000178615] Chr6:129454210 [GRCh38]
Chr6:129775355 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6816T>C (p.Asp2272=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002517741]|not provided [RCV000178646] Chr6:129456443 [GRCh38]
Chr6:129777588 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7300+10T>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155020]|LAMA2-related condition [RCV003955077]|LAMA2-related muscular dystrophy [RCV001083655]|not provided [RCV000724719]|not specified [RCV000194022] Chr6:129465299 [GRCh38]
Chr6:129786444 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7440-9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001088481]|not provided [RCV000723867] Chr6:129475381 [GRCh38]
Chr6:129796526 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8497G>T (p.Asp2833Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002515279]|Merosin deficient congenital muscular dystrophy [RCV002492787]|not provided [RCV000179578] Chr6:129503230 [GRCh38]
Chr6:129824375 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.284-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000691634]|not provided [RCV000177064] Chr6:129059780 [GRCh38]
Chr6:129380925 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3645A>G (p.Pro1215=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001088896]|not provided [RCV000176525] Chr6:129315565 [GRCh38]
Chr6:129636710 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3585A>G (p.Leu1195=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156480]|LAMA2-related muscular dystrophy [RCV001421593]|not provided [RCV000176526] Chr6:129315505 [GRCh38]
Chr6:129636650 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152676]|LAMA2-related condition [RCV003937604]|LAMA2-related muscular dystrophy [RCV001081183]|Merosin deficient congenital muscular dystrophy [RCV000509423]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000709620]|not provided [RCV000659062]|not specified [RCV000194655] Chr6:129349348 [GRCh38]
Chr6:129670493 [GRCh37]
Chr6:6q22.33		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153957]|LAMA2-related condition [RCV003917654]|LAMA2-related muscular dystrophy [RCV001080672]|not provided [RCV000724205] Chr6:129369957 [GRCh38]
Chr6:129691102 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4969G>A (p.Val1657Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001248058]|Merosin deficient congenital muscular dystrophy [RCV000764628]|not provided [RCV000724455]|not specified [RCV000177826] Chr6:129383131 [GRCh38]
Chr6:129704276 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5601T>G (p.Ser1867=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001088723]|not provided [RCV000177969] Chr6:129402362 [GRCh38]
Chr6:129723507 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8464T>C (p.Leu2822=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000264416]|LAMA2-related muscular dystrophy [RCV001410804] Chr6:129503197 [GRCh38]
Chr6:129824342 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4048C>T (p.Arg1350Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001390276]|Merosin deficient congenital muscular dystrophy [RCV000399363]|not provided [RCV000725563] Chr6:129316161 [GRCh38]
Chr6:129637306 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1550A>T (p.Glu517Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000263733]|LAMA2-related muscular dystrophy [RCV000654731]|not provided [RCV000992260] Chr6:129190287 [GRCh38]
Chr6:129511432 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7369A>C (p.Asn2457His) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000666807]|not specified [RCV000195235] Chr6:129473282 [GRCh38]
Chr6:129794427 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3110T>C (p.Ile1037Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001852559]|Merosin deficient congenital muscular dystrophy [RCV000667983]|not provided [RCV003133169]|not specified [RCV000192659] Chr6:129300808 [GRCh38]
Chr6:129621953 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7426C>A (p.Leu2476Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV000542684]|not provided [RCV003129920] Chr6:129473339 [GRCh38]
Chr6:129794484 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6268+5G>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000371198]|Inborn genetic diseases [RCV002518929]|LAMA2-related condition [RCV003947878]|LAMA2-related muscular dystrophy [RCV000527078]|Merosin deficient congenital muscular dystrophy [RCV000764630]|not provided [RCV000432057]|not specified [RCV000283158] Chr6:129441003 [GRCh38]
Chr6:129762148 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5374G>T (p.Glu1792Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000684848]|Merosin deficient congenital muscular dystrophy [RCV003463718]|not provided [RCV000255424] Chr6:129393184 [GRCh38]
Chr6:129714329 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8547+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000543273] Chr6:129503281 [GRCh38]
Chr6:129824426 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000800716]|Merosin deficient congenital muscular dystrophy [RCV000209850]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002470817]|not provided [RCV001753629]|not specified [RCV002469071] Chr6:129143976 [GRCh38]
Chr6:129465121 [GRCh37]
Chr6:6q22.33		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7741A>T (p.Thr2581Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000544403] Chr6:129481431 [GRCh38]
Chr6:129802576 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1795GGA[1] (p.Gly600del) microsatellite Merosin deficient congenital muscular dystrophy [RCV000670426] Chr6:129250123..129250125 [GRCh38]
Chr6:129571268..129571270 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5665_5667del (p.Lys1889del) deletion LAMA2-related muscular dystrophy [RCV001861794]|Merosin deficient congenital muscular dystrophy [RCV000670517] Chr6:129402424..129402426 [GRCh38]
Chr6:129723569..129723571 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3130T>C (p.Cys1044Arg) single nucleotide variant Inborn genetic diseases [RCV002567975]|not provided [RCV001507684] Chr6:129300828 [GRCh38]
Chr6:129621973 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2230C>T (p.Arg744Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000691208]|Merosin deficient congenital muscular dystrophy [RCV000669872] Chr6:129267127 [GRCh38]
Chr6:129588272 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1358G>C (p.Cys453Ser) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000668981] Chr6:129177757 [GRCh38]
Chr6:129498902 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2176T>C (p.Cys726Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001241324]|Merosin deficient congenital muscular dystrophy [RCV000669645]|not provided [RCV003133496]|not specified [RCV003330885] Chr6:129260790 [GRCh38]
Chr6:129581935 [GRCh37]
Chr6:6q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1303C>T (p.Arg435Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000531230]|Merosin deficient congenital muscular dystrophy [RCV000670070]|not provided [RCV000224579] Chr6:129165672 [GRCh38]
Chr6:129486817 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.922G>A (p.Glu308Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000340277]|LAMA2-related muscular dystrophy [RCV000529189]|not provided [RCV000224668]|not specified [RCV000498838] Chr6:129148991 [GRCh38]
Chr6:129470136 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.5909G>C (p.Cys1970Ser) single nucleotide variant Inborn genetic diseases [RCV002516230]|LAMA2-related condition [RCV003907837]|LAMA2-related muscular dystrophy [RCV001085106]|not provided [RCV000224029] Chr6:129427795 [GRCh38]
Chr6:129748940 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.6128A>G (p.Gln2043Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000341200]|LAMA2-related muscular dystrophy [RCV000535681]|not provided [RCV000224036]|not specified [RCV000522850] Chr6:129440858 [GRCh38]
Chr6:129762003 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.5169GAT[1] (p.Met1724del) microsatellite Merosin deficient congenital muscular dystrophy [RCV000669520] Chr6:129391588..129391590 [GRCh38]
Chr6:129712733..129712735 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4660_4668del (p.Gly1554_Lys1556del) deletion LAMA2-related muscular dystrophy [RCV001855523]|Merosin deficient congenital muscular dystrophy [RCV000669638] Chr6:129353299..129353307 [GRCh38]
Chr6:129674444..129674452 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5605G>T (p.Glu1869Ter) single nucleotide variant not provided [RCV000306212] Chr6:129402366 [GRCh38]
Chr6:129723511 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2537+12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003736845]|not specified [RCV000600265] Chr6:129280159 [GRCh38]
Chr6:129601304 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5116C>T (p.Arg1706Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000530826]|Merosin deficient congenital muscular dystrophy [RCV000328095]|Merosin deficient congenital muscular dystrophy [RCV000763554]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003388578]|not provided [RCV000726090] Chr6:129391535 [GRCh38]
Chr6:129712680 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.396+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000553357]|Merosin deficient congenital muscular dystrophy [RCV000316746]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003152703]|not provided [RCV000725186] Chr6:129059897 [GRCh38]
Chr6:129381042 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7155+9del deletion LAMA2-related muscular dystrophy [RCV000524984] Chr6:129464461 [GRCh38]
Chr6:129785606 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003736881]|Merosin deficient congenital muscular dystrophy [RCV000668996] Chr6:129270623 [GRCh38]
Chr6:129591768 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5470G>A (p.Gly1824Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000526524]|not provided [RCV003133366] Chr6:129401248 [GRCh38]
Chr6:129722393 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.3685C>T (p.His1229Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002530976]|not provided [RCV000595680] Chr6:129315605 [GRCh38]
Chr6:129636750 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8076-15A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001470682]|not specified [RCV000606238] Chr6:129492300 [GRCh38]
Chr6:129813445 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3752dup (p.Lys1252fs) duplication Inborn genetic diseases [RCV000623527] Chr6:129315773..129315774 [GRCh38]
Chr6:129636918..129636919 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5454G>A (p.Lys1818=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000897570]|not specified [RCV000605417] Chr6:129401232 [GRCh38]
Chr6:129722377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4019_4024dup (p.Ile1341_Lys1342insIleIle) duplication Merosin deficient congenital muscular dystrophy [RCV000669997] Chr6:129316131..129316132 [GRCh38]
Chr6:129637276..129637277 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2749+24C>A single nucleotide variant not provided [RCV003133198]|not specified [RCV000243515] Chr6:129288082 [GRCh38]
Chr6:129609227 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7451+37A>G single nucleotide variant not specified [RCV000250894] Chr6:129475438 [GRCh38]
Chr6:129796583 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+32T>A single nucleotide variant not specified [RCV000253373] Chr6:129147080 [GRCh38]
Chr6:129468225 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5562C>T (p.Asp1854=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000529501] Chr6:129401340 [GRCh38]
Chr6:129722485 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7057C>T (p.Arg2353Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000284205]|LAMA2-related muscular dystrophy [RCV000536495]|Merosin deficient congenital muscular dystrophy [RCV000764631]|Primary dilated cardiomyopathy [RCV001293062]|not provided [RCV000712196] Chr6:129464354 [GRCh38]
Chr6:129785499 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.6739G>C (p.Ala2247Pro) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000285247] Chr6:129456366 [GRCh38]
Chr6:129777511 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4786A>G (p.Ile1596Val) single nucleotide variant Inborn genetic diseases [RCV003159942]|LAMA2-related muscular dystrophy [RCV000525965] Chr6:129366287 [GRCh38]
Chr6:129687432 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6702A>T (p.Ala2234=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654776]|Merosin deficient congenital muscular dystrophy [RCV000665290]|not specified [RCV000243688] Chr6:129454283 [GRCh38]
Chr6:129775428 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+50A>C single nucleotide variant not provided [RCV001576505]|not specified [RCV000243783] Chr6:129250263 [GRCh38]
Chr6:129571408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8907C>T (p.Arg2969=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000905376]|Merosin deficient congenital muscular dystrophy [RCV000666515]|not specified [RCV000243836] Chr6:129512412 [GRCh38]
Chr6:129833557 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7473A>G (p.Lys2491=) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000674280]|not specified [RCV000246278] Chr6:129478714 [GRCh38]
Chr6:129799859 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-12C>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000406237]|LAMA2-related muscular dystrophy [RCV001429545]|Merosin deficient congenital muscular dystrophy [RCV000669466]|not provided [RCV002225537]|not specified [RCV000248588] Chr6:129514361 [GRCh38]
Chr6:129835506 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6706A>C (p.Arg2236=) single nucleotide variant not specified [RCV000248642] Chr6:129454287 [GRCh38]
Chr6:129775432 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7573-9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001446356]|not specified [RCV000251188] Chr6:129481254 [GRCh38]
Chr6:129802399 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6707+37T>C single nucleotide variant not provided [RCV001598634]|not specified [RCV000253603] Chr6:129454325 [GRCh38]
Chr6:129775470 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2857-14T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002057354]|not specified [RCV000251196] Chr6:129297671 [GRCh38]
Chr6:129618816 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.2857-39T>C single nucleotide variant not provided [RCV001552953]|not specified [RCV000253748] Chr6:129297646 [GRCh38]
Chr6:129618791 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5280G>A (p.Glu1760=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654770]|not specified [RCV000241619] Chr6:129393090 [GRCh38]
Chr6:129714235 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.3597T>C (p.Asp1199=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156481]|LAMA2-related muscular dystrophy [RCV000877822]|not provided [RCV001697622]|not specified [RCV000251418] Chr6:129315517 [GRCh38]
Chr6:129636662 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.4718-37G>A single nucleotide variant not provided [RCV001582805]|not specified [RCV000253924] Chr6:129366182 [GRCh38]
Chr6:129687327 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+21C>A single nucleotide variant not specified [RCV000249109] Chr6:129514616 [GRCh38]
Chr6:129835761 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-26G>A single nucleotide variant not provided [RCV000843048]|not specified [RCV000249142] Chr6:129143875 [GRCh38]
Chr6:129465020 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6488del (p.Lys2163fs) deletion LAMA2-related muscular dystrophy [RCV000654727]|Merosin deficient congenital muscular dystrophy [RCV001251149]|not provided [RCV000255697] Chr6:129453045 [GRCh38]
Chr6:129774190 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5405G>T (p.Arg1802Leu) single nucleotide variant Inborn genetic diseases [RCV002526747]|LAMA2-related muscular dystrophy [RCV000527012]|Merosin deficient congenital muscular dystrophy [RCV000764629]|not provided [RCV003133364] Chr6:129393215 [GRCh38]
Chr6:129714360 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.8076-24A>G single nucleotide variant not specified [RCV000246793] Chr6:129492291 [GRCh38]
Chr6:129813436 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-32_3175-31del microsatellite not provided [RCV001594889]|not specified [RCV000246898] Chr6:129312826..129312827 [GRCh38]
Chr6:129633971..129633972 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2749+34T>C single nucleotide variant not provided [RCV000843085]|not specified [RCV000249268] Chr6:129288092 [GRCh38]
Chr6:129609237 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter) single nucleotide variant Inborn genetic diseases [RCV002521854]|LAMA2-related muscular dystrophy [RCV000548471]|Merosin deficient congenital muscular dystrophy [RCV000666714]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003229588]|not provided [RCV000255824] Chr6:129401254 [GRCh38]
Chr6:129722399 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.411G>A (p.Ala137=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000279526]|LAMA2-related muscular dystrophy [RCV001080784]|not provided [RCV000712186]|not specified [RCV000244548] Chr6:129098187 [GRCh38]
Chr6:129419332 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4311+32C>G single nucleotide variant not specified [RCV000249490] Chr6:129328444 [GRCh38]
Chr6:129649589 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-18T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002055040]|not specified [RCV000252007] Chr6:129270606 [GRCh38]
Chr6:129591751 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.8586T>C (p.Tyr2862=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000383105]|LAMA2-related muscular dystrophy [RCV001084286]|not provided [RCV000712198]|not specified [RCV000252053] Chr6:129505238 [GRCh38]
Chr6:129826383 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1782+14T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152470]|LAMA2-related muscular dystrophy [RCV002055039]|not provided [RCV001705334]|not specified [RCV000242661] Chr6:129192867 [GRCh38]
Chr6:129514012 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1207-28G>A single nucleotide variant not specified [RCV000245086] Chr6:129165548 [GRCh38]
Chr6:129486693 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1373G>A (p.Arg458Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000270098]|LAMA2-related muscular dystrophy [RCV000546108]|Merosin deficient congenital muscular dystrophy [RCV002487557]|not provided [RCV000658392] Chr6:129177772 [GRCh38]
Chr6:129498917 [GRCh37]
Chr6:6q22.33		 pathogenic|likely benign|uncertain significance
NM_000426.4(LAMA2):c.3175-22G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002519881]|not specified [RCV000242725] Chr6:129312839 [GRCh38]
Chr6:129633984 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1467+38C>T single nucleotide variant not provided [RCV001711535]|not specified [RCV000242821] Chr6:129177904 [GRCh38]
Chr6:129499049 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.5727-24T>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001730613]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730614]|not provided [RCV000843074]|not specified [RCV000247711] Chr6:129403797 [GRCh38]
Chr6:129724942 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1403C>G (p.Ala468Gly) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000306380]|LAMA2-related muscular dystrophy [RCV000534558]|Merosin deficient congenital muscular dystrophy [RCV002503927]|not specified [RCV000250055] Chr6:129177802 [GRCh38]
Chr6:129498947 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.4935C>A (p.Thr1645=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000304257]|LAMA2-related muscular dystrophy [RCV001085004]|not provided [RCV000554229]|not specified [RCV000250103] Chr6:129369966 [GRCh38]
Chr6:129691111 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6649G>A (p.Val2217Ile) single nucleotide variant Inborn genetic diseases [RCV002518578]|LAMA2-related muscular dystrophy [RCV000875252]|not provided [RCV001722289]|not specified [RCV000252499] Chr6:129454230 [GRCh38]
Chr6:129775375 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.3969T>C (p.Thr1323=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002057355]|not specified [RCV000252532] Chr6:129316082 [GRCh38]
Chr6:129637227 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6952T>A (p.Phe2318Ile) single nucleotide variant not specified [RCV000518004] Chr6:129460284 [GRCh38]
Chr6:129781429 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7452-9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001469799]|not specified [RCV000242873] Chr6:129478684 [GRCh38]
Chr6:129799829 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001510000]|not specified [RCV000245451] Chr6:129383251 [GRCh38]
Chr6:129704396 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5727-27C>A single nucleotide variant not provided [RCV001575420]|not specified [RCV000252663] Chr6:129403794 [GRCh38]
Chr6:129724939 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4075A>T (p.Met1359Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000552137] Chr6:129320554 [GRCh38]
Chr6:129641699 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5769A>G (p.Ala1923=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000952088]|not specified [RCV000243045] Chr6:129403863 [GRCh38]
Chr6:129725008 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5121C>T (p.Asp1707=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000545720]|not provided [RCV003422168]|not specified [RCV000250403] Chr6:129391540 [GRCh38]
Chr6:129712685 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.3086G>A (p.Arg1029Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000266511]|LAMA2-related muscular dystrophy [RCV002520402]|not provided [RCV003129846] Chr6:129300784 [GRCh38]
Chr6:129621929 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2376C>T (p.Phe792=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002519880]|not provided [RCV002472981]|not specified [RCV000243192] Chr6:129270677 [GRCh38]
Chr6:129591822 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9212-15C>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154396]|LAMA2-related muscular dystrophy [RCV001510680]|not provided [RCV001573864]|not specified [RCV000245678] Chr6:129516175 [GRCh38]
Chr6:129837320 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.3037+49G>A single nucleotide variant not provided [RCV000831884]|not specified [RCV000245817] Chr6:129297914 [GRCh38]
Chr6:129619059 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6993-44T>C single nucleotide variant not provided [RCV000843099]|not specified [RCV000248154] Chr6:129464246 [GRCh38]
Chr6:129785391 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1206+11C>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153658]|LAMA2-related muscular dystrophy [RCV001512549]|not specified [RCV000253098] Chr6:129154694 [GRCh38]
Chr6:129475839 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000355209]|LAMA2-related muscular dystrophy [RCV001086525]|not provided [RCV000726006]|not specified [RCV000253127] Chr6:129288045 [GRCh38]
Chr6:129609190 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.5466_5467delinsGG (p.Ser1823Gly) indel LAMA2-related muscular dystrophy [RCV000548254] Chr6:129401244..129401245 [GRCh38]
Chr6:129722389..129722390 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3174+38A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001730611]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730612]|not provided [RCV000843058]|not specified [RCV000250754] Chr6:129300910 [GRCh38]
Chr6:129622055 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.-99A>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000266591] Chr6:128883147 [GRCh38]
Chr6:129204292 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5284C>G (p.Arg1762Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV000701102]|not specified [RCV000517728] Chr6:129393094 [GRCh38]
Chr6:129714239 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4790A>T (p.Asn1597Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000397173]|LAMA2-related muscular dystrophy [RCV002524468] Chr6:129366291 [GRCh38]
Chr6:129687436 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7640G>A (p.Gly2547Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000398215]|LAMA2-related condition [RCV003912517]|LAMA2-related muscular dystrophy [RCV000529804]|not provided [RCV001718763] Chr6:129481330 [GRCh38]
Chr6:129802475 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4959+6G>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000321483]|LAMA2-related muscular dystrophy [RCV001086908]|not provided [RCV000727346] Chr6:129369996 [GRCh38]
Chr6:129691141 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1085G>T (p.Arg362Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000394746]|Inborn genetic diseases [RCV003352846] Chr6:129154562 [GRCh38]
Chr6:129475707 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4697G>A (p.Arg1566His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000353245]|LAMA2-related muscular dystrophy [RCV002523544] Chr6:129353337 [GRCh38]
Chr6:129674482 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7479C>T (p.Ser2493=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000345453]|LAMA2-related condition [RCV003912516]|LAMA2-related muscular dystrophy [RCV001407826]|not specified [RCV000616343] Chr6:129478720 [GRCh38]
Chr6:129799865 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7344T>C (p.Asn2448=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000346252]|LAMA2-related muscular dystrophy [RCV001086145]|not provided [RCV000950286] Chr6:129473257 [GRCh38]
Chr6:129794402 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.2323-7T>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000396657]|LAMA2-related muscular dystrophy [RCV003736745] Chr6:129270617 [GRCh38]
Chr6:129591762 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4205G>A (p.Arg1402His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000397163]|Inborn genetic diseases [RCV002520403]|LAMA2-related muscular dystrophy [RCV000695834]|Merosin deficient congenital muscular dystrophy [RCV000764626]|not provided [RCV003133244] Chr6:129328306 [GRCh38]
Chr6:129649451 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.9328G>A (p.Glu3110Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000396891]|LAMA2-related muscular dystrophy [RCV000654750]|Merosin deficient congenital muscular dystrophy [RCV000764638]|not provided [RCV003129847] Chr6:129516306 [GRCh38]
Chr6:129837451 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4222C>G (p.Arg1408Gly) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000300913]|Inborn genetic diseases [RCV002523543]|LAMA2-related muscular dystrophy [RCV002520404]|not provided [RCV001508560] Chr6:129328323 [GRCh38]
Chr6:129649468 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.*57A>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000354803]|not provided [RCV001718764] Chr6:129516404 [GRCh38]
Chr6:129837549 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.3304C>T (p.Arg1102Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000376354] Chr6:129312990 [GRCh38]
Chr6:129634135 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2686C>T (p.Arg896Trp) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000399083]|LAMA2-related muscular dystrophy [RCV002524467]|not provided [RCV001764321] Chr6:129287995 [GRCh38]
Chr6:129609140 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6429+10T>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000373822]|LAMA2-related condition [RCV003902378]|LAMA2-related muscular dystrophy [RCV000909660] Chr6:129445831 [GRCh38]
Chr6:129766976 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.-72G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000357875]|not provided [RCV001675863] Chr6:128883174 [GRCh38]
Chr6:129204319 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.*190ATA[1] microsatellite Congenital Muscular Dystrophy, LAMA2-related [RCV000358086]|not provided [RCV001538244] Chr6:129516536..129516538 [GRCh38]
Chr6:129837681..129837683 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3750G>T (p.Gly1250=) single nucleotide variant Congenital Muscular Dystrophy, LAMA2-related [RCV000349977]|LAMA2-related muscular dystrophy [RCV000951389] Chr6:129315776 [GRCh38]
Chr6:129636921 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3555+10G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000289257]|LAMA2-related muscular dystrophy [RCV002061306] Chr6:129314808 [GRCh38]
Chr6:129635953 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000381871]|LAMA2-related condition [RCV003902379]|LAMA2-related muscular dystrophy [RCV001081806]|not provided [RCV000593173] Chr6:129507513 [GRCh38]
Chr6:129828658 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6832A>G (p.Met2278Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000376263]|Inborn genetic diseases [RCV001266074]|LAMA2-related muscular dystrophy [RCV000700908]|Merosin deficient congenital muscular dystrophy [RCV002487558]|not provided [RCV000726647] Chr6:129456459 [GRCh38]
Chr6:129777604 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3429C>A (p.Ile1143=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000382301]|LAMA2-related muscular dystrophy [RCV000945351]|not provided [RCV001705521] Chr6:129314672 [GRCh38]
Chr6:129635817 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.98C>A (p.Ala33Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000382343]|Inborn genetic diseases [RCV002520401]|LAMA2-related condition [RCV003418074]|LAMA2-related muscular dystrophy [RCV001850879]|not provided [RCV001770280] Chr6:128883343 [GRCh38]
Chr6:129204488 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.*118T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000305750]|not provided [RCV001683410] Chr6:129516465 [GRCh38]
Chr6:129837610 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.2857-13C>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000361101]|LAMA2-related muscular dystrophy [RCV002061305]|not specified [RCV000606650] Chr6:129297672 [GRCh38]
Chr6:129618817 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4944C>T (p.Asn1648=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000361333]|LAMA2-related condition [RCV003970037]|LAMA2-related muscular dystrophy [RCV000871234] Chr6:129369975 [GRCh38]
Chr6:129691120 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6274+4C>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000274351]|LAMA2-related muscular dystrophy [RCV001081748]|not provided [RCV000712192]|not specified [RCV000444635] Chr6:129443072 [GRCh38]
Chr6:129764217 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.1506C>A (p.Ser502=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000331653]|LAMA2-related muscular dystrophy [RCV003766043] Chr6:129190243 [GRCh38]
Chr6:129511388 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8223G>A (p.Thr2741=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000379832]|LAMA2-related muscular dystrophy [RCV000525663]|not provided [RCV001531021]|not specified [RCV000499554] Chr6:129492462 [GRCh38]
Chr6:129813607 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6206A>G (p.Tyr2069Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000363181]|LAMA2-related condition [RCV003950262]|LAMA2-related muscular dystrophy [RCV000654772] Chr6:129440936 [GRCh38]
Chr6:129762081 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3666C>A (p.Asp1222Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000292683]|LAMA2-related muscular dystrophy [RCV002523542] Chr6:129315586 [GRCh38]
Chr6:129636731 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.5179G>C (p.Glu1727Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000382091]|LAMA2-related muscular dystrophy [RCV001211576]|Merosin deficient congenital muscular dystrophy [RCV002480232]|Polymicrogyria [RCV000656109]|not provided [RCV001508562] Chr6:129391598 [GRCh38]
Chr6:129712743 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.237G>A (p.Arg79=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000292575]|LAMA2-related muscular dystrophy [RCV000955640] Chr6:129050042 [GRCh38]
Chr6:129371187 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7466T>C (p.Leu2489Pro) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000306990] Chr6:129478707 [GRCh38]
Chr6:129799852 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4993G>A (p.Gly1665Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000364458]|LAMA2-related muscular dystrophy [RCV000654755]|not provided [RCV002461105]|not specified [RCV003401370] Chr6:129383155 [GRCh38]
Chr6:129704300 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.5072-3C>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000325136]|LAMA2-related muscular dystrophy [RCV000553872]|Merosin deficient congenital muscular dystrophy [RCV000674480]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003463785] Chr6:129391488 [GRCh38]
Chr6:129712633 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8836G>A (p.Gly2946Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000294689]|LAMA2-related muscular dystrophy [RCV000691737]|Merosin deficient congenital muscular dystrophy [RCV000673324]|Merosin deficient congenital muscular dystrophy [RCV002487559]|not specified [RCV002229896] Chr6:129507621 [GRCh38]
Chr6:129828766 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2149A>G (p.Ile717Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000345645]|LAMA2-related muscular dystrophy [RCV000654739]|not provided [RCV003129845] Chr6:129260763 [GRCh38]
Chr6:129581908 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6438A>G (p.Val2146=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000262751]|LAMA2-related muscular dystrophy [RCV000942762] Chr6:129452996 [GRCh38]
Chr6:129774141 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1715C>T (p.Ala572Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000278664]|LAMA2-related muscular dystrophy [RCV000654709] Chr6:129192786 [GRCh38]
Chr6:129513931 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9240C>A (p.Thr3080=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000337508]|LAMA2-related muscular dystrophy [RCV000897780] Chr6:129516218 [GRCh38]
Chr6:129837363 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5360G>C (p.Trp1787Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000294738]|LAMA2-related muscular dystrophy [RCV002061307] Chr6:129393170 [GRCh38]
Chr6:129714315 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2527C>T (p.Arg843Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000368057]|LAMA2-related muscular dystrophy [RCV001245530] Chr6:129280137 [GRCh38]
Chr6:129601282 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7708A>G (p.Thr2570Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000315035]|LAMA2-related muscular dystrophy [RCV002520405]|not provided [RCV003133245] Chr6:129481398 [GRCh38]
Chr6:129802543 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1467+12A>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000370441]|LAMA2-related muscular dystrophy [RCV002061304] Chr6:129177878 [GRCh38]
Chr6:129499023 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000281305]|LAMA2-related muscular dystrophy [RCV001079286]|not provided [RCV000726898]|not specified [RCV000595086] Chr6:129401247 [GRCh38]
Chr6:129722392 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.*46T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000297638] Chr6:129516393 [GRCh38]
Chr6:129837538 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5558T>G (p.Ile1853Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000372398]|LAMA2-related condition [RCV003950261]|LAMA2-related muscular dystrophy [RCV000554917]|not provided [RCV001508563] Chr6:129401336 [GRCh38]
Chr6:129722481 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6788C>T (p.Thr2263Met) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000342698]|LAMA2-related muscular dystrophy [RCV001086456]|not provided [RCV000543777]|not specified [RCV000431666] Chr6:129456415 [GRCh38]
Chr6:129777560 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1716G>C (p.Ala572=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000342971]|LAMA2-related muscular dystrophy [RCV001448458] Chr6:129192787 [GRCh38]
Chr6:129513932 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.112+3dup duplication Congenital Muscular Dystrophy, LAMA2-related [RCV000269237] Chr6:128883359..128883360 [GRCh38]
Chr6:129204504..129204505 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6426T>C (p.Asn2142=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001088715]|not provided [RCV000303022] Chr6:129445818 [GRCh38]
Chr6:129766963 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155234]|LAMA2-related muscular dystrophy [RCV001085018]|not provided [RCV000725292] Chr6:129516318 [GRCh38]
Chr6:129837463 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7439+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003574726]|not provided [RCV000292245] Chr6:129473353 [GRCh38]
Chr6:129794498 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3215del (p.Cys1072fs) deletion LAMA2-related muscular dystrophy [RCV000558818]|Merosin deficient congenital muscular dystrophy [RCV002503972]|Merosin deficient congenital muscular dystrophy [RCV003469211]|not provided [RCV000295431] Chr6:129312901 [GRCh38]
Chr6:129634046 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2916T>G (p.Phe972Leu) single nucleotide variant Inborn genetic diseases [RCV002519295]|LAMA2-related muscular dystrophy [RCV000654716]|not provided [RCV000276299] Chr6:129297744 [GRCh38]
Chr6:129618889 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.30T>G (p.Leu10=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000272619]|LAMA2-related muscular dystrophy [RCV001477773]|not provided [RCV003133243] Chr6:128883275 [GRCh38]
Chr6:129204420 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.817A>T (p.Arg273Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000326246]|not provided [RCV000726019] Chr6:129144078 [GRCh38]
Chr6:129465223 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1032_1042del (p.Cys344fs) deletion not provided [RCV000329217] Chr6:129154505..129154515 [GRCh38]
Chr6:129475650..129475660 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2352T>G (p.Tyr784Ter) single nucleotide variant not provided [RCV000335134] Chr6:129270653 [GRCh38]
Chr6:129591798 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8211A>C (p.Pro2737=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001503690]|not provided [RCV000283444] Chr6:129492450 [GRCh38]
Chr6:129813595 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) single nucleotide variant LAMA2-related condition [RCV003910044]|LAMA2-related muscular dystrophy [RCV000542768]|not provided [RCV000387835] Chr6:129297842 [GRCh38]
Chr6:129618987 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7155+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001859670]|not provided [RCV000367418] Chr6:129464453 [GRCh38]
Chr6:129785598 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3799_3821del (p.Phe1267fs) deletion LAMA2-related muscular dystrophy [RCV001044036]|Merosin deficient congenital muscular dystrophy [RCV000670062]|not provided [RCV000374981] Chr6:129315823..129315845 [GRCh38]
Chr6:129636968..129636990 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.444dup (p.Pro149fs) duplication not provided [RCV000373152] Chr6:129098218..129098219 [GRCh38]
Chr6:129419363..129419364 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.*207_*210dup duplication Congenital Muscular Dystrophy, LAMA2-related [RCV000265793] Chr6:129516551..129516552 [GRCh38]
Chr6:129837696..129837697 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1610_1611del (p.Ile537fs) deletion LAMA2-related muscular dystrophy [RCV001388823]|not provided [RCV000387480] Chr6:129192680..129192681 [GRCh38]
Chr6:129513825..129513826 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3979_3985dup (p.Phe1329Ter) duplication LAMA2-related muscular dystrophy [RCV001859599]|not provided [RCV000397723] Chr6:129316091..129316092 [GRCh38]
Chr6:129637236..129637237 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001086978]|not provided [RCV000726398]|not specified [RCV000330626] Chr6:129445737 [GRCh38]
Chr6:129766882 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6444G>A (p.Val2148=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458456]|not provided [RCV000299455] Chr6:129453002 [GRCh38]
Chr6:129774147 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.595T>A (p.Cys199Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152376]|LAMA2-related muscular dystrophy [RCV001855191]|Merosin deficient congenital muscular dystrophy [RCV000672275]|not provided [RCV000332581]|not specified [RCV003488500] Chr6:129098371 [GRCh38]
Chr6:129419516 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2318G>A (p.Cys773Tyr) single nucleotide variant not provided [RCV000367610] Chr6:129267215 [GRCh38]
Chr6:129588360 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5560G>A (p.Asp1854Asn) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000279910] Chr6:129401338 [GRCh38]
Chr6:129722483 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5518G>A (p.Asp1840Asn) single nucleotide variant Inborn genetic diseases [RCV002519170]|LAMA2-related muscular dystrophy [RCV000556228]|not provided [RCV000300413] Chr6:129401296 [GRCh38]
Chr6:129722441 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1546G>A (p.Asp516Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001247189]|not provided [RCV000334717] Chr6:129190283 [GRCh38]
Chr6:129511428 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1782+281A>G single nucleotide variant not provided [RCV001547935] Chr6:129193134 [GRCh38]
Chr6:129514279 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.670A>G (p.Ser224Gly) single nucleotide variant not provided [RCV000489183] Chr6:129143931 [GRCh38]
Chr6:129465076 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4646G>A (p.Arg1549Gln) single nucleotide variant Inborn genetic diseases [RCV002525191]|LAMA2-related muscular dystrophy [RCV000822061]|not provided [RCV000523554] Chr6:129353286 [GRCh38]
Chr6:129674431 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.848T>C (p.Val283Ala) single nucleotide variant Inborn genetic diseases [RCV002527030]|LAMA2-related muscular dystrophy [RCV000813108]|Merosin deficient congenital muscular dystrophy [RCV002506189]|not provided [RCV000489342] Chr6:129146987 [GRCh38]
Chr6:129468132 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8076-7C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002056812]|not provided [RCV000489494] Chr6:129492308 [GRCh38]
Chr6:129813453 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3461G>T (p.Gly1154Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153851]|LAMA2-related muscular dystrophy [RCV001865513]|not provided [RCV000489592] Chr6:129314704 [GRCh38]
Chr6:129635849 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2780C>T (p.Ser927Phe) single nucleotide variant not provided [RCV000489650] Chr6:129291644 [GRCh38]
Chr6:129612789 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3850G>C (p.Ala1284Pro) single nucleotide variant not provided [RCV000489762] Chr6:129315876 [GRCh38]
Chr6:129637021 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.855G>T (p.Gly285=) single nucleotide variant not provided [RCV000487776] Chr6:129146994 [GRCh38]
Chr6:129468139 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3785G>A (p.Arg1262Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000549177]|not provided [RCV003133362] Chr6:129315811 [GRCh38]
Chr6:129636956 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8244+2dup duplication LAMA2-related muscular dystrophy [RCV000554836]|Merosin deficient congenital muscular dystrophy [RCV003470797] Chr6:129492484..129492485 [GRCh38]
Chr6:129813629..129813630 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.5853del (p.Ala1952fs) deletion LAMA2-related muscular dystrophy [RCV000532977] Chr6:129403946 [GRCh38]
Chr6:129725091 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6268+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000548839] Chr6:129441000 [GRCh38]
Chr6:129762145 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1027+1G>A single nucleotide variant not provided [RCV000488063] Chr6:129149097 [GRCh38]
Chr6:129470242 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6985_6988del (p.Thr2329fs) deletion not provided [RCV000488369] Chr6:129460317..129460320 [GRCh38]
Chr6:129781462..129781465 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4349G>A (p.Arg1450Gln) single nucleotide variant LAMA2-related condition [RCV003972816]|LAMA2-related muscular dystrophy [RCV000654761]|not provided [RCV001704648] Chr6:129342380 [GRCh38]
Chr6:129663525 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.8633T>G (p.Ile2878Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000291071] Chr6:129505285 [GRCh38]
Chr6:129826430 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5893G>A (p.Glu1965Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000302190] Chr6:129427779 [GRCh38]
Chr6:129748924 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.-95GCT[2] microsatellite Congenital Muscular Dystrophy, LAMA2-related [RCV000303137] Chr6:128883151..128883153 [GRCh38]
Chr6:129204296..129204298 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6410C>T (p.Ala2137Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000330874] Chr6:129445802 [GRCh38]
Chr6:129766947 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.819+7T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000304070] Chr6:129144087 [GRCh38]
Chr6:129465232 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2240G>C (p.Gly747Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV000528186]|Merosin deficient congenital muscular dystrophy [RCV002483505]|not provided [RCV003139866] Chr6:129267137 [GRCh38]
Chr6:129588282 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NC_000006.12:g.(?_129390037)_(129391573_?)del deletion LAMA2-related muscular dystrophy [RCV000528254] Chr6:129390037..129391573 [GRCh38]
Chr6:129711182..129712718 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5446-14A>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000333325] Chr6:129401210 [GRCh38]
Chr6:129722355 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1558T>C (p.Cys520Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000318969] Chr6:129190295 [GRCh38]
Chr6:129511440 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.805A>G (p.Ile269Val) single nucleotide variant Congenital Muscular Dystrophy, LAMA2-related [RCV000334689] Chr6:129144066 [GRCh38]
Chr6:129465211 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7762A>G (p.Ile2588Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000367392]|LAMA2-related muscular dystrophy [RCV001221337] Chr6:129486486 [GRCh38]
Chr6:129807631 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.194T>C (p.Met65Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000386943] Chr6:129049999 [GRCh38]
Chr6:129371144 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.488A>T (p.Tyr163Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001851444]|not provided [RCV001591167]|not specified [RCV000517812] Chr6:129098264 [GRCh38]
Chr6:129419409 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4263A>G (p.Gln1421=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000530211]|not provided [RCV003431123] Chr6:129328364 [GRCh38]
Chr6:129649509 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4101A>G (p.Gly1367=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000530262] Chr6:129320580 [GRCh38]
Chr6:129641725 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8147G>A (p.Arg2716His) single nucleotide variant Inborn genetic diseases [RCV002527492]|LAMA2-related muscular dystrophy [RCV000689949]|not provided [RCV003129880]|not specified [RCV000518446] Chr6:129492386 [GRCh38]
Chr6:129813531 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1127G>T (p.Gly376Val) single nucleotide variant not provided [RCV002284649] Chr6:129154604 [GRCh38]
Chr6:129475749 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1169G>C (p.Cys390Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000309736]|LAMA2-related muscular dystrophy [RCV001323374] Chr6:129154646 [GRCh38]
Chr6:129475791 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6667A>G (p.Thr2223Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000372779]|LAMA2-related muscular dystrophy [RCV001861269] Chr6:129454248 [GRCh38]
Chr6:129775393 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.745C>T (p.Arg249Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000530859]|not provided [RCV003133368] Chr6:129144006 [GRCh38]
Chr6:129465151 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.818G>A (p.Arg273Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000394734] Chr6:129144079 [GRCh38]
Chr6:129465224 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2714A>G (p.Tyr905Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000300403] Chr6:129288023 [GRCh38]
Chr6:129609168 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5665A>G (p.Lys1889Glu) single nucleotide variant Congenital Muscular Dystrophy, LAMA2-related [RCV000341899]|LAMA2-related muscular dystrophy [RCV001850880] Chr6:129402426 [GRCh38]
Chr6:129723571 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6133A>G (p.Asn2045Asp) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000394808]|LAMA2-related muscular dystrophy [RCV002523545] Chr6:129440863 [GRCh38]
Chr6:129762008 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9128G>A (p.Gly3043Glu) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000626190] Chr6:129514512 [GRCh38]
Chr6:129835657 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5234+19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003581689]|not specified [RCV000600222] Chr6:129391672 [GRCh38]
Chr6:129712817 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.61C>G (p.Gln21Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000327749] Chr6:128883306 [GRCh38]
Chr6:129204451 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2097-3T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000396654] Chr6:129260708 [GRCh38]
Chr6:129581853 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.*62_*65dup duplication Congenital Muscular Dystrophy, LAMA2-related [RCV000396794] Chr6:129516407..129516408 [GRCh38]
Chr6:129837552..129837553 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.-103C>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000361300] Chr6:128883143 [GRCh38]
Chr6:129204288 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5536G>A (p.Ala1846Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152794]|Inborn genetic diseases [RCV003283999]|LAMA2-related muscular dystrophy [RCV001882475] Chr6:129401314 [GRCh38]
Chr6:129722459 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5553C>T (p.Ser1851=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152795]|LAMA2-related muscular dystrophy [RCV001437305]|not provided [RCV002264205] Chr6:129401331 [GRCh38]
Chr6:129722476 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4059-20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002531643]|not specified [RCV000600640] Chr6:129320518 [GRCh38]
Chr6:129641663 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.12del (p.Ala5fs) deletion LAMA2-related muscular dystrophy [RCV001245192]|not provided [RCV000627599] Chr6:128883256 [GRCh38]
Chr6:129204401 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3237C>A (p.Cys1079Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003767347]|not provided [RCV000591735] Chr6:129312923 [GRCh38]
Chr6:129634068 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7680C>T (p.Ser2560=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001480887]|not specified [RCV000601303] Chr6:129481370 [GRCh38]
Chr6:129802515 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2230C>A (p.Arg744=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000549745] Chr6:129267127 [GRCh38]
Chr6:129588272 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.917G>A (p.Arg306His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001858022]|Merosin deficient congenital muscular dystrophy [RCV001329272]|not provided [RCV000520655] Chr6:129148986 [GRCh38]
Chr6:129470131 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8669dup (p.Leu2890fs) duplication LAMA2-related muscular dystrophy [RCV001382263]|not provided [RCV000598597] Chr6:129505319..129505320 [GRCh38]
Chr6:129826464..129826465 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1609-41= indel not specified [RCV000598653] Chr6:129192639..129192673 [GRCh38]
Chr6:129513784..129513818 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.195G>A (p.Met65Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000553772] Chr6:129050000 [GRCh38]
Chr6:129371145 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.828C>G (p.Tyr276Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000553778]|Merosin deficient congenital muscular dystrophy [RCV003470798] Chr6:129146967 [GRCh38]
Chr6:129468112 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4682del (p.Lys1561fs) deletion Congenital Muscular Dystrophy, LAMA2-related [RCV002279724]|LAMA2-related muscular dystrophy [RCV002531118]|Merosin deficient congenital muscular dystrophy [RCV000984280]|not provided [RCV000598989] Chr6:129353321 [GRCh38]
Chr6:129674466 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6274+5G>T single nucleotide variant not provided [RCV000579012] Chr6:129443073 [GRCh38]
Chr6:129764218 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129502639)_(129514615_?)del deletion LAMA2-related muscular dystrophy [RCV000531601] Chr6:129502639..129514615 [GRCh38]
Chr6:129823784..129835760 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.9269_9283dup (p.Thr3094_Lys3095insThrLeuLysLeuThr) duplication not provided [RCV000599061] Chr6:129516246..129516247 [GRCh38]
Chr6:129837391..129837392 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.612C>G (p.Ser204=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000550719] Chr6:129098388 [GRCh38]
Chr6:129419533 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4896T>G (p.Leu1632=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453294] Chr6:129369927 [GRCh38]
Chr6:129691072 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.12:g.(?_129165566)_(129192863_?)del deletion LAMA2-related muscular dystrophy [RCV000817288] Chr6:129165566..129192863 [GRCh38]
Chr6:129486711..129514008 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1781_1782del (p.Lys594fs) deletion not provided [RCV000599251] Chr6:129192851..129192852 [GRCh38]
Chr6:129513996..129513997 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.909+4T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000552260] Chr6:129147052 [GRCh38]
Chr6:129468197 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3175-19G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003736842]|not specified [RCV000604801] Chr6:129312842 [GRCh38]
Chr6:129633987 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8155G>T (p.Glu2719Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000984279]|not provided [RCV000591127] Chr6:129492394 [GRCh38]
Chr6:129813539 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.718T>C (p.Tyr240His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152379]|LAMA2-related muscular dystrophy [RCV001245455] Chr6:129143979 [GRCh38]
Chr6:129465124 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1650C>T (p.Gly550=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157938]|LAMA2-related muscular dystrophy [RCV001083246]|Merosin deficient congenital muscular dystrophy [RCV001333433]|not provided [RCV000712181] Chr6:129192721 [GRCh38]
Chr6:129513866 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.1558T>A (p.Cys520Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001858029]|not provided [RCV000523959] Chr6:129190295 [GRCh38]
Chr6:129511440 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4148C>T (p.Pro1383Leu) single nucleotide variant not provided [RCV000730614] Chr6:129320627 [GRCh38]
Chr6:129641772 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1467+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000559292] Chr6:129177867 [GRCh38]
Chr6:129499012 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5530C>T (p.Arg1844Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152793]|LAMA2-related condition [RCV003950326]|LAMA2-related muscular dystrophy [RCV001080471]|not provided [RCV000415922]|not specified [RCV000493358] Chr6:129401308 [GRCh38]
Chr6:129722453 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7288A>C (p.Ile2430Leu) single nucleotide variant not provided [RCV000730036] Chr6:129465277 [GRCh38]
Chr6:129786422 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4620C>A (p.Asp1540Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152678]|not provided [RCV000728795] Chr6:129353260 [GRCh38]
Chr6:129674405 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154299]|LAMA2-related condition [RCV003977696]|LAMA2-related muscular dystrophy [RCV001081139]|not provided [RCV000591454] Chr6:129502696 [GRCh38]
Chr6:129823841 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7156-5_7157delinsT indel LAMA2-related muscular dystrophy [RCV000539415] Chr6:129465140..129465146 [GRCh38]
Chr6:129786285..129786291 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5509G>A (p.Asp1837Asn) single nucleotide variant LAMA2-related condition [RCV003945335]|LAMA2-related muscular dystrophy [RCV000541554]|Merosin deficient congenital muscular dystrophy [RCV001334438]|not provided [RCV003133367] Chr6:129401287 [GRCh38]
Chr6:129722432 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1787C>T (p.Pro596Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000540354] Chr6:129250116 [GRCh38]
Chr6:129571261 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4010A>G (p.His1337Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158142]|LAMA2-related muscular dystrophy [RCV000541809]|Merosin deficient congenital muscular dystrophy [RCV000664838]|Merosin deficient congenital muscular dystrophy [RCV002483507]|not provided [RCV001508559] Chr6:129316123 [GRCh38]
Chr6:129637268 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3555+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003766151]|not provided [RCV000413320] Chr6:129314799 [GRCh38]
Chr6:129635944 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000536256]|Merosin deficient congenital muscular dystrophy [RCV002227483]|Merosin deficient congenital muscular dystrophy [RCV003470796] Chr6:129369907 [GRCh38]
Chr6:129691052 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.9172G>A (p.Ala3058Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000540990] Chr6:129514556 [GRCh38]
Chr6:129835701 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1206G>C (p.Gly402=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000546197]|Merosin deficient congenital muscular dystrophy [RCV001265653] Chr6:129154683 [GRCh38]
Chr6:129475828 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3244C>T (p.His1082Tyr) single nucleotide variant Inborn genetic diseases [RCV002523936]|Intellectual disability [RCV001252052]|LAMA2-related muscular dystrophy [RCV000557605]|Merosin deficient congenital muscular dystrophy [RCV000764623]|not provided [RCV001508557]|not specified [RCV000413698] Chr6:129312930 [GRCh38]
Chr6:129634075 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8245-2A>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000779488]|LAMA2-related muscular dystrophy [RCV003574768]|Merosin deficient congenital muscular dystrophy [RCV003463817]|not provided [RCV000414051] Chr6:129502657 [GRCh38]
Chr6:129823802 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2288C>T (p.Ala763Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156365]|LAMA2-related muscular dystrophy [RCV000533655]|not provided [RCV000657928] Chr6:129267185 [GRCh38]
Chr6:129588330 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.11:g.129826466T>TT single nucleotide variant not provided [RCV000728186] Chr6:129826466 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2324A>G (p.Asn775Ser) single nucleotide variant not provided [RCV000729539] Chr6:129270625 [GRCh38]
Chr6:129591770 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3(LAMA2):c.2553delT (p.Phe852Leufs) deletion Merosin deficient congenital muscular dystrophy [RCV000454149] Chr6:129287862 [GRCh38]
Chr6:129609007 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1300C>T (p.Arg434Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000553179]|Merosin deficient congenital muscular dystrophy [RCV000984281] Chr6:129165669 [GRCh38]
Chr6:129486814 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2187G>C (p.Gly729=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000546679]|not specified [RCV000420586] Chr6:129260801 [GRCh38]
Chr6:129581946 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.9211+17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002059625]|not specified [RCV000423629] Chr6:129514612 [GRCh38]
Chr6:129835757 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+13G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152569]|LAMA2-related muscular dystrophy [RCV002059815]|not specified [RCV000434197] Chr6:129291733 [GRCh38]
Chr6:129612878 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.283+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000529392]|Merosin deficient congenital muscular dystrophy [RCV000665566]|not provided [RCV000444644] Chr6:129050089 [GRCh38]
Chr6:129371234 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2265G>A (p.Glu755=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001493495]|not specified [RCV000417752] Chr6:129267162 [GRCh38]
Chr6:129588307 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8774C>T (p.Pro2925Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000534714]|Merosin deficient congenital muscular dystrophy [RCV002488935]|not specified [RCV000420835] Chr6:129507559 [GRCh38]
Chr6:129828704 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.4656C>A (p.Ala1552=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002063618]|not specified [RCV000423897] Chr6:129353296 [GRCh38]
Chr6:129674441 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4436+6A>G single nucleotide variant not specified [RCV000421008] Chr6:129342473 [GRCh38]
Chr6:129663618 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5866-15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002522529]|not specified [RCV000424115] Chr6:129427737 [GRCh38]
Chr6:129748882 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2097-13T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153746]|LAMA2-related muscular dystrophy [RCV002065024]|not specified [RCV000424304] Chr6:129260698 [GRCh38]
Chr6:129581843 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7536C>T (p.Pro2512=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002063534]|not specified [RCV000431647] Chr6:129478777 [GRCh38]
Chr6:129799922 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002522483]|not specified [RCV000418415] Chr6:129492496 [GRCh38]
Chr6:129813641 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7058G>A (p.Arg2353His) single nucleotide variant Inborn genetic diseases [RCV003372705]|LAMA2-related muscular dystrophy [RCV000551529]|not provided [RCV001698140] Chr6:129464355 [GRCh38]
Chr6:129785500 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.2766C>T (p.Ala922=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654777]|not specified [RCV000418884] Chr6:129291630 [GRCh38]
Chr6:129612775 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6195GAA[2] (p.Lys2067del) microsatellite LAMA2-related muscular dystrophy [RCV002524713]|Merosin deficient congenital muscular dystrophy [RCV000672201]|not provided [RCV000422473] Chr6:129440925..129440927 [GRCh38]
Chr6:129762070..129762072 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4436+5G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002525511]|not provided [RCV000424965] Chr6:129342472 [GRCh38]
Chr6:129663617 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.9039T>C (p.Asp3013=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001412166]|not specified [RCV000419303] Chr6:129514423 [GRCh38]
Chr6:129835568 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2430A>C (p.Pro810=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654778]|not provided [RCV001712270]|not specified [RCV000421905] Chr6:129270731 [GRCh38]
Chr6:129591876 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.408C>T (p.Ile136=) single nucleotide variant LAMA2-related condition [RCV003912737]|LAMA2-related muscular dystrophy [RCV000878387]|not specified [RCV000422273] Chr6:129098184 [GRCh38]
Chr6:129419329 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8357+19C>T single nucleotide variant not specified [RCV000422383] Chr6:129502790 [GRCh38]
Chr6:129823935 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-19C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001472351]|not provided [RCV001698185] Chr6:129252065 [GRCh38]
Chr6:129573210 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7300+19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002062714]|not specified [RCV000419925] Chr6:129465308 [GRCh38]
Chr6:129786453 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4857A>G (p.Leu1619=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654758]|not specified [RCV000426253] Chr6:129366358 [GRCh38]
Chr6:129687503 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.711C>T (p.Ser237=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000877105]|Merosin deficient congenital muscular dystrophy [RCV002488983]|not specified [RCV000420137] Chr6:129143972 [GRCh38]
Chr6:129465117 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.74C>T (p.Pro25Leu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156178]|LAMA2-related condition [RCV003912664]|LAMA2-related muscular dystrophy [RCV001083278]|not provided [RCV000514861] Chr6:128883319 [GRCh38]
Chr6:129204464 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.2451-18G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002056662]|not specified [RCV000444232] Chr6:129280043 [GRCh38]
Chr6:129601188 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1814C>T (p.Thr605Ile) single nucleotide variant LAMA2-related condition [RCV003922741]|LAMA2-related muscular dystrophy [RCV000874720]|not provided [RCV001288666]|not specified [RCV000426949] Chr6:129250143 [GRCh38]
Chr6:129571288 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4176+9C>T single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158144]|LAMA2-related condition [RCV003970209]|LAMA2-related muscular dystrophy [RCV000654754]|not specified [RCV000434004] Chr6:129320664 [GRCh38]
Chr6:129641809 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9051A>G (p.Pro3017=) single nucleotide variant not specified [RCV000441034] Chr6:129514435 [GRCh38]
Chr6:129835580 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8637G>C (p.Leu2879=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000898786]|not specified [RCV000444816] Chr6:129505289 [GRCh38]
Chr6:129826434 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8918C>T (p.Thr2973Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV000802778]|Muscular dystrophy [RCV001356828]|not provided [RCV000729717] Chr6:129512423 [GRCh38]
Chr6:129833568 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6430-5dup duplication LAMA2-related muscular dystrophy [RCV002063777]|not provided [RCV001722402] Chr6:129452975..129452976 [GRCh38]
Chr6:129774120..129774121 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.-17del deletion not specified [RCV000484308] Chr6:128883228 [GRCh38]
Chr6:129204373 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4523G>A (p.Arg1508Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001389983]|Merosin deficient congenital muscular dystrophy [RCV000984190]|not provided [RCV000483171] Chr6:129349384 [GRCh38]
Chr6:129670529 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3 copy number gain See cases [RCV000512067] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_000426.4(LAMA2):c.910-14del deletion LAMA2-related muscular dystrophy [RCV002063784]|not specified [RCV000481199] Chr6:129148963 [GRCh38]
Chr6:129470108 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1499G>A (p.Cys500Tyr) single nucleotide variant not provided [RCV000484636] Chr6:129190236 [GRCh38]
Chr6:129511381 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6708-3A>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154185]|LAMA2-related condition [RCV003960131]|LAMA2-related muscular dystrophy [RCV001087476]|not provided [RCV000481995] Chr6:129456332 [GRCh38]
Chr6:129777477 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3636del (p.Gln1213fs) deletion not provided [RCV000478648] Chr6:129315552 [GRCh38]
Chr6:129636697 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1670A>C (p.Gln557Pro) single nucleotide variant not provided [RCV000523390] Chr6:129192741 [GRCh38]
Chr6:129513886 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2350dup (p.Tyr784fs) duplication LAMA2-related muscular dystrophy [RCV002525929]|Merosin deficient congenital muscular dystrophy [RCV003476172]|not provided [RCV000486406] Chr6:129270650..129270651 [GRCh38]
Chr6:129591795..129591796 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5866-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001851279]|Merosin deficient congenital muscular dystrophy [RCV000674058]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001823143]|not provided [RCV000479998] Chr6:129427751 [GRCh38]
Chr6:129748896 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4717+12_4717+20dup duplication LAMA2-related muscular dystrophy [RCV002063743]|not specified [RCV000478756] Chr6:129353366..129353367 [GRCh38]
Chr6:129674511..129674512 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8452C>G (p.Leu2818Val) single nucleotide variant not provided [RCV000480247] Chr6:129503185 [GRCh38]
Chr6:129824330 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5598G>T (p.Met1866Ile) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000678265]|not specified [RCV000498641] Chr6:129402359 [GRCh38]
Chr6:129723504 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7452-1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000500923] Chr6:129478692 [GRCh38]
Chr6:129799837 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8524A>G (p.Ile2842Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240299]|Merosin deficient congenital muscular dystrophy [RCV000764635]|not provided [RCV003133284]|not specified [RCV000503356] Chr6:129503257 [GRCh38]
Chr6:129824402 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6062dup (p.Leu2023fs) duplication LAMA2-related muscular dystrophy [RCV001857011]|not provided [RCV000498831] Chr6:129438736..129438737 [GRCh38]
Chr6:129759881..129759882 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.665G>C (p.Arg222Thr) single nucleotide variant not provided [RCV000498876] Chr6:129143926 [GRCh38]
Chr6:129465071 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6274+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000552313]|not specified [RCV000501198] Chr6:129443073 [GRCh38]
Chr6:129764218 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2217G>T (p.Trp739Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153747]|LAMA2-related muscular dystrophy [RCV000535129]|Merosin deficient congenital muscular dystrophy [RCV000665212]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001270112]|not provided [RCV001507679]|not specified [RCV000501465] Chr6:129267114 [GRCh38]
Chr6:129588259 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.7415G>T (p.Gly2472Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155021]|LAMA2-related muscular dystrophy [RCV000532232]|Merosin deficient congenital muscular dystrophy [RCV000764633]|not provided [RCV001509287]|not specified [RCV000501602] Chr6:129473328 [GRCh38]
Chr6:129794473 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6520del (p.Asn2173_Val2174insTer) deletion Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000503859]|LAMA2-related muscular dystrophy [RCV003766825] Chr6:129453078 [GRCh38]
Chr6:129774223 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.397-4_478del deletion Merosin deficient congenital muscular dystrophy [RCV000503934] Chr6:129098169..129098254 [GRCh38]
Chr6:129419314..129419399 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1657C>T (p.Arg553Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000709844]|Merosin deficient congenital muscular dystrophy [RCV003470661]|not provided [RCV000523102] Chr6:129192728 [GRCh38]
Chr6:129513873 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|not provided
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_000426.4(LAMA2):c.5382A>G (p.Thr1794=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000946429]|not provided [RCV003884580]|not specified [RCV000504447] Chr6:129393192 [GRCh38]
Chr6:129714337 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.370G>T (p.Val124Leu) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000509227] Chr6:129059870 [GRCh38]
Chr6:129381015 [GRCh37]
Chr6:6q22.33		 not provided
NM_000426.4(LAMA2):c.2122G>A (p.Ala708Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002524216]|not specified [RCV000499687] Chr6:129260736 [GRCh38]
Chr6:129581881 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9254G>A (p.Arg3085Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155233]|LAMA2-related muscular dystrophy [RCV000824214]|not provided [RCV003133283]|not specified [RCV000501974] Chr6:129516232 [GRCh38]
Chr6:129837377 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6229G>A (p.Ala2077Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000527643]|Merosin deficient congenital muscular dystrophy [RCV000509339]|not provided [RCV003133294]|not specified [RCV001821424] Chr6:129440959 [GRCh38]
Chr6:129762104 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance|not provided
NM_000426.4(LAMA2):c.8842G>A (p.Gly2948Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001086813]|Merosin deficient congenital muscular dystrophy [RCV000764636]|Primary dilated cardiomyopathy [RCV001293224]|not provided [RCV000723578] Chr6:129507627 [GRCh38]
Chr6:129828772 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6047T>C (p.Leu2016Ser) single nucleotide variant Inborn genetic diseases [RCV002524079]|LAMA2-related muscular dystrophy [RCV001361569]|not provided [RCV000497656] Chr6:129438724 [GRCh38]
Chr6:129759869 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6605G>T (p.Gly2202Val) single nucleotide variant not provided [RCV000497707] Chr6:129454186 [GRCh38]
Chr6:129775331 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7112T>G (p.Phe2371Cys) single nucleotide variant Inborn genetic diseases [RCV003352895]|LAMA2-related muscular dystrophy [RCV000699578]|not provided [RCV000497710] Chr6:129464409 [GRCh38]
Chr6:129785554 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1702A>G (p.Ser568Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001245643]|not specified [RCV000502555] Chr6:129192773 [GRCh38]
Chr6:129513918 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5291A>G (p.Glu1764Gly) single nucleotide variant Inborn genetic diseases [RCV003302734]|LAMA2-related muscular dystrophy [RCV000689906]|not provided [RCV000712189] Chr6:129393101 [GRCh38]
Chr6:129714246 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.7088C>T (p.Thr2363Ile) single nucleotide variant LAMA2-related condition [RCV003942638]|LAMA2-related muscular dystrophy [RCV000557131]|Merosin deficient congenital muscular dystrophy [RCV000764632]|not provided [RCV001509285]|not specified [RCV000500474] Chr6:129464385 [GRCh38]
Chr6:129785530 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5675A>T (p.Gln1892Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002524215]|not provided [RCV003133282]|not specified [RCV000502829] Chr6:129402436 [GRCh38]
Chr6:129723581 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.525G>C (p.Glu175Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792131]|not provided [RCV000498283] Chr6:129098301 [GRCh38]
Chr6:129419446 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4060A>G (p.Ile1354Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001243371]|not provided [RCV000498323] Chr6:129320539 [GRCh38]
Chr6:129641684 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6429+8C>A single nucleotide variant LAMA2-related condition [RCV003900048]|LAMA2-related muscular dystrophy [RCV001086568]|not provided [RCV000840116]|not specified [RCV000502961] Chr6:129445829 [GRCh38]
Chr6:129766974 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.7074C>A (p.Tyr2358Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000815600]|Merosin deficient congenital muscular dystrophy [RCV000665940]|Merosin deficient congenital muscular dystrophy [RCV000763555]|not provided [RCV000498487] Chr6:129464371 [GRCh38]
Chr6:129785516 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.479A>G (p.Asp160Gly) single nucleotide variant not provided [RCV000498612] Chr6:129098255 [GRCh38]
Chr6:129419400 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1792G>A (p.Val598Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000806947]|not provided [RCV000493458] Chr6:129250121 [GRCh38]
Chr6:129571266 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9001G>C (p.Val3001Leu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151354]|LAMA2-related muscular dystrophy [RCV000526476]|not provided [RCV000493864] Chr6:129514385 [GRCh38]
Chr6:129835530 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4717+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000654738]|Merosin deficient congenital muscular dystrophy [RCV000664588]|not provided [RCV000494223] Chr6:129353358 [GRCh38]
Chr6:129674503 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.518A>T (p.Asp173Val) single nucleotide variant Inborn genetic diseases [RCV003159596]|LAMA2-related muscular dystrophy [RCV001241397]|not provided [RCV000494387] Chr6:129098294 [GRCh38]
Chr6:129419439 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.31-23.2(chr6:122612641-131564463)x1 copy number loss See cases [RCV000511386] Chr6:122612641..131564463 [GRCh37]
Chr6:6q22.31-23.2		 pathogenic
NM_000426.4(LAMA2):c.7390G>T (p.Ala2464Ser) single nucleotide variant not provided [RCV000492859] Chr6:129473303 [GRCh38]
Chr6:129794448 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5833G>A (p.Ala1945Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154067]|not provided [RCV000493152] Chr6:129403927 [GRCh38]
Chr6:129725072 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.728T>C (p.Leu243Pro) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003465646]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000709617] Chr6:129143989 [GRCh38]
Chr6:129465134 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.397-35_397del deletion not provided [RCV000523442] Chr6:129098136..129098171 [GRCh38]
Chr6:129419281..129419316 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.9295A>T (p.Lys3099Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000669044] Chr6:129516273 [GRCh38]
Chr6:129837418 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2322+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000817774]|Merosin deficient congenital muscular dystrophy [RCV000669605]|not provided [RCV001784259] Chr6:129267220 [GRCh38]
Chr6:129588365 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.30_32del (p.Leu13del) deletion LAMA2-related muscular dystrophy [RCV001069316]|Merosin deficient congenital muscular dystrophy [RCV000669948] Chr6:128883273..128883275 [GRCh38]
Chr6:129204418..129204420 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5968G>T (p.Glu1990Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001214183] Chr6:129427854 [GRCh38]
Chr6:129748999 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7584A>C (p.Thr2528=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001432735] Chr6:129481274 [GRCh38]
Chr6:129802419 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9010G>T (p.Gly3004Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000541922] Chr6:129514394 [GRCh38]
Chr6:129835539 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2556del (p.Phe852fs) deletion LAMA2-related muscular dystrophy [RCV000541193]|Merosin deficient congenital muscular dystrophy [RCV000454149]|Merosin deficient congenital muscular dystrophy [RCV002483506]|not provided [RCV001507681] Chr6:129287862 [GRCh38]
Chr6:129609007 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2430A>G (p.Pro810=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001439877]|not specified [RCV000607226] Chr6:129270731 [GRCh38]
Chr6:129591876 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-6T>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156482]|LAMA2-related muscular dystrophy [RCV000538721]|not specified [RCV001821654] Chr6:129316032 [GRCh38]
Chr6:129637177 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.9339C>A (p.Gly3113=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001400230]|not specified [RCV000603715] Chr6:129516317 [GRCh38]
Chr6:129837462 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5231T>G (p.Leu1744Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV000535080] Chr6:129391650 [GRCh38]
Chr6:129712795 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5901C>G (p.Ala1967=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494765] Chr6:129427787 [GRCh38]
Chr6:129748932 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5072-10C>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154810]|LAMA2-related condition [RCV003945334]|LAMA2-related muscular dystrophy [RCV000539249]|not provided [RCV001558576] Chr6:129391481 [GRCh38]
Chr6:129712626 [GRCh37]
Chr6:6q22.33		 benign|likely benign|uncertain significance
NM_000426.4(LAMA2):c.6339C>T (p.Leu2113=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399731]|not provided [RCV001707817] Chr6:129445731 [GRCh38]
Chr6:129766876 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2209-6_2209-3del microsatellite LAMA2-related muscular dystrophy [RCV003736834]|not provided [RCV000597817] Chr6:129267098..129267101 [GRCh38]
Chr6:129588245..129588248 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7760= (p.Ala2587=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000558774]|Merosin deficient congenital muscular dystrophy [RCV000576552]|not specified [RCV000613086] Chr6:129486484 [GRCh38]
Chr6:129807629 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8231C>G (p.Pro2744Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000540378] Chr6:129492470 [GRCh38]
Chr6:129813615 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2755C>T (p.Arg919Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001085693]|not provided [RCV000840034] Chr6:129291619 [GRCh38]
Chr6:129612764 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4649C>T (p.Pro1550Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000537470]|not provided [RCV001726245] Chr6:129353289 [GRCh38]
Chr6:129674434 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7710_7711insG (p.Pro2571fs) insertion LAMA2-related muscular dystrophy [RCV000560143] Chr6:129481400..129481401 [GRCh38]
Chr6:129802545..129802546 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8920A>T (p.Thr2974Ser) single nucleotide variant Inborn genetic diseases [RCV002527941]|LAMA2-related muscular dystrophy [RCV000537632]|Merosin deficient congenital muscular dystrophy [RCV001291750]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001291824]|not provided [RCV000730617] Chr6:129512425 [GRCh38]
Chr6:129833570 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7965C>A (p.Ile2655=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151228]|LAMA2-related muscular dystrophy [RCV001087120]|not provided [RCV000596361] Chr6:129491967 [GRCh38]
Chr6:129813112 [GRCh37]
Chr6:6q22.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8988+15T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151353]|LAMA2-related muscular dystrophy [RCV002060197]|not provided [RCV000514828] Chr6:129512508 [GRCh38]
Chr6:129833653 [GRCh37]
Chr6:6q22.33		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8727C>T (p.Cys2909=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000534926]|not provided [RCV001722523] Chr6:129507512 [GRCh38]
Chr6:129828657 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7700G>C (p.Ser2567Thr) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000624570] Chr6:129481390 [GRCh38]
Chr6:129802535 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6666G>A (p.Leu2222=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002063864]|not specified [RCV000602644] Chr6:129454247 [GRCh38]
Chr6:129775392 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.3829C>T (p.Arg1277Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000528418]|not provided [RCV002508785] Chr6:129315855 [GRCh38]
Chr6:129637000 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001064111]|not provided [RCV000594834] Chr6:129192716 [GRCh38]
Chr6:129513861 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1279_1280del (p.Val427fs) microsatellite not provided [RCV000627506] Chr6:129165645..129165646 [GRCh38]
Chr6:129486790..129486791 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4436+1G>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000672011] Chr6:129342468 [GRCh38]
Chr6:129663613 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8181A>C (p.Ile2727=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000536862] Chr6:129492420 [GRCh38]
Chr6:129813565 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6430-18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002529479]|not specified [RCV000600013] Chr6:129452970 [GRCh38]
Chr6:129774115 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.872G>C (p.Gly291Ala) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000626260] Chr6:129147011 [GRCh38]
Chr6:129468156 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.542A>G (p.Asn181Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000537196]|Merosin deficient congenital muscular dystrophy [RCV001810461]|not provided [RCV003133365] Chr6:129098318 [GRCh38]
Chr6:129419463 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.1562C>T (p.Ser521Leu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157933]|LAMA2-related muscular dystrophy [RCV000537392]|not provided [RCV001770492] Chr6:129190299 [GRCh38]
Chr6:129511444 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5969-4G>A single nucleotide variant LAMA2-related condition [RCV003935589]|LAMA2-related muscular dystrophy [RCV000873057]|not specified [RCV000596049] Chr6:129438642 [GRCh38]
Chr6:129759787 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.5071+3104del deletion LAMA2-related muscular dystrophy [RCV000532328] Chr6:129386337 [GRCh38]
Chr6:129707482 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8467C>T (p.Pro2823Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000794411]|not provided [RCV000596219] Chr6:129503200 [GRCh38]
Chr6:129824345 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2323-19A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002063888]|not specified [RCV000602042] Chr6:129270605 [GRCh38]
Chr6:129591750 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.397-23TTG[2] microsatellite not provided [RCV001722568] Chr6:129098150..129098152 [GRCh38]
Chr6:129419295..129419297 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8761G>A (p.Asp2921Asn) single nucleotide variant LAMA2-related condition [RCV003952898]|LAMA2-related muscular dystrophy [RCV000560653]|not provided [RCV003133369] Chr6:129507546 [GRCh38]
Chr6:129828691 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4199G>C (p.Arg1400Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000560818] Chr6:129328300 [GRCh38]
Chr6:129649445 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.219C>G (p.Val73=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001455485] Chr6:129050024 [GRCh38]
Chr6:129371169 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5143G>A (p.Glu1715Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000556848]|not provided [RCV003133363] Chr6:129391562 [GRCh38]
Chr6:129712707 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.12:g.(?_129486474)_(129486622_?)del deletion LAMA2-related muscular dystrophy [RCV000538534] Chr6:129486474..129486622 [GRCh38]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8937G>C (p.Gly2979=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000944010]|not specified [RCV000608138] Chr6:129512442 [GRCh38]
Chr6:129833587 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3628A>G (p.Ile1210Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000538799]|not provided [RCV001508558] Chr6:129315548 [GRCh38]
Chr6:129636693 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3582T>C (p.Ile1194=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001085327]|not provided [RCV000873560] Chr6:129315502 [GRCh38]
Chr6:129636647 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4960-16G>A single nucleotide variant LAMA2-related condition [RCV003935643]|LAMA2-related muscular dystrophy [RCV002062821]|not provided [RCV001722564] Chr6:129383106 [GRCh38]
Chr6:129704251 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.99A>G (p.Ala33=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000939833]|not specified [RCV000610978] Chr6:128883344 [GRCh38]
Chr6:129204489 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002064213]|not specified [RCV000613738] Chr6:129492093 [GRCh38]
Chr6:129813238 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.5448A>G (p.Lys1816=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001409175]|not specified [RCV000613858] Chr6:129401226 [GRCh38]
Chr6:129722371 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002063319]|not specified [RCV000608580] Chr6:129190186 [GRCh38]
Chr6:129511331 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.397-15G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002062857]|not specified [RCV000614075] Chr6:129098158 [GRCh38]
Chr6:129419303 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.251G>C (p.Arg84Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654707]|not provided [RCV003129974] Chr6:129050056 [GRCh38]
Chr6:129371201 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2121C>A (p.Ser707=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654708] Chr6:129260735 [GRCh38]
Chr6:129581880 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4108A>G (p.Met1370Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654710] Chr6:129320587 [GRCh38]
Chr6:129641732 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.437C>G (p.Ser146Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654711]|not provided [RCV001572301] Chr6:129098213 [GRCh38]
Chr6:129419358 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7207_7208dup (p.Asp2403fs) duplication LAMA2-related muscular dystrophy [RCV000654713] Chr6:129465195..129465196 [GRCh38]
Chr6:129786340..129786341 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7155G>A (p.Leu2385=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654714] Chr6:129464452 [GRCh38]
Chr6:129785597 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9038A>C (p.Asp3013Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654715]|not provided [RCV001509292] Chr6:129514422 [GRCh38]
Chr6:129835567 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9077A>G (p.His3026Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654717] Chr6:129514461 [GRCh38]
Chr6:129835606 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7277C>T (p.Thr2426Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654718] Chr6:129465266 [GRCh38]
Chr6:129786411 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8977A>G (p.Ile2993Val) single nucleotide variant Inborn genetic diseases [RCV002534211]|LAMA2-related muscular dystrophy [RCV000654719]|not provided [RCV003133469] Chr6:129512482 [GRCh38]
Chr6:129833627 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6044C>T (p.Thr2015Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654720] Chr6:129438721 [GRCh38]
Chr6:129759866 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5335T>C (p.Tyr1779His) single nucleotide variant Inborn genetic diseases [RCV002534212]|LAMA2-related muscular dystrophy [RCV000654721] Chr6:129393145 [GRCh38]
Chr6:129714290 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3736-2A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000654722]|Merosin deficient congenital muscular dystrophy [RCV000668700]|not provided [RCV001556699] Chr6:129315760 [GRCh38]
Chr6:129636905 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7780C>T (p.Arg2594Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654723]|not provided [RCV001509288] Chr6:129486504 [GRCh38]
Chr6:129807649 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.284-3_284-2del deletion LAMA2-related muscular dystrophy [RCV000654724] Chr6:129059780..129059781 [GRCh38]
Chr6:129380925..129380926 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8388A>C (p.Glu2796Asp) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155132]|LAMA2-related muscular dystrophy [RCV000654725]|not provided [RCV003133470] Chr6:129503121 [GRCh38]
Chr6:129824266 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7424C>T (p.Thr2475Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654726] Chr6:129473337 [GRCh38]
Chr6:129794482 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6708-7del deletion LAMA2-related muscular dystrophy [RCV000654728] Chr6:129456326 [GRCh38]
Chr6:129777471 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1084_1085delinsTT (p.Arg362Leu) indel LAMA2-related muscular dystrophy [RCV000654729] Chr6:129154561..129154562 [GRCh38]
Chr6:129475706..129475707 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3862G>A (p.Val1288Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654730]|Merosin deficient congenital muscular dystrophy [RCV000764625] Chr6:129315888 [GRCh38]
Chr6:129637033 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6323G>A (p.Arg2108Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156581]|Inborn genetic diseases [RCV002534213]|LAMA2-related condition [RCV003420152]|LAMA2-related muscular dystrophy [RCV000654732]|not provided [RCV001771912] Chr6:129445715 [GRCh38]
Chr6:129766860 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6757G>C (p.Ala2253Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654733] Chr6:129456384 [GRCh38]
Chr6:129777529 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5078A>G (p.Asn1693Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654734]|not provided [RCV003133471] Chr6:129391497 [GRCh38]
Chr6:129712642 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4450T>C (p.Cys1484Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654735] Chr6:129349311 [GRCh38]
Chr6:129670456 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7604G>A (p.Gly2535Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654736]|not provided [RCV003129975] Chr6:129481294 [GRCh38]
Chr6:129802439 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4945G>C (p.Glu1649Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654737]|Merosin deficient congenital muscular dystrophy [RCV002477462]|not provided [RCV001813794] Chr6:129369976 [GRCh38]
Chr6:129691121 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3446G>A (p.Arg1149Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654740] Chr6:129314689 [GRCh38]
Chr6:129635834 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5060G>A (p.Arg1687Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654741]|not provided [RCV003133472] Chr6:129383222 [GRCh38]
Chr6:129704367 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5562+3_5562+6del deletion LAMA2-related muscular dystrophy [RCV000654742] Chr6:129401341..129401344 [GRCh38]
Chr6:129722486..129722489 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6856G>A (p.Gly2286Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654743] Chr6:129456483 [GRCh38]
Chr6:129777628 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6691C>G (p.Arg2231Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654744]|not provided [RCV003133473] Chr6:129454272 [GRCh38]
Chr6:129775417 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.566C>T (p.Pro189Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654745]|not provided [RCV003488771] Chr6:129098342 [GRCh38]
Chr6:129419487 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6106G>A (p.Ala2036Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654746]|not provided [RCV003133474] Chr6:129440836 [GRCh38]
Chr6:129761981 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1027+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000654747]|Merosin deficient congenital muscular dystrophy [RCV000671034] Chr6:129149097 [GRCh38]
Chr6:129470242 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1594T>C (p.Trp532Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654748] Chr6:129190331 [GRCh38]
Chr6:129511476 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6875A>T (p.Asp2292Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654749]|not provided [RCV001771913] Chr6:129460207 [GRCh38]
Chr6:129781352 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5938G>A (p.Glu1980Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654751]|Merosin deficient congenital muscular dystrophy [RCV001334439]|not provided [RCV003129976] Chr6:129427824 [GRCh38]
Chr6:129748969 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4717+4C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000654752]|not provided [RCV002307580]|not specified [RCV003987647] Chr6:129353361 [GRCh38]
Chr6:129674506 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7425G>A (p.Thr2475=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654753] Chr6:129473338 [GRCh38]
Chr6:129794483 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3528T>G (p.Ser1176=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654756] Chr6:129314771 [GRCh38]
Chr6:129635916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7301-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000654757] Chr6:129473205 [GRCh38]
Chr6:129794350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6350A>G (p.Lys2117Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654759] Chr6:129445742 [GRCh38]
Chr6:129766887 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3447G>A (p.Arg1149=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654760] Chr6:129314690 [GRCh38]
Chr6:129635835 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1722C>G (p.Ala574=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654762] Chr6:129192793 [GRCh38]
Chr6:129513938 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7772A>G (p.Asn2591Ser) single nucleotide variant LAMA2-related condition [RCV003945684]|LAMA2-related muscular dystrophy [RCV000654764] Chr6:129486496 [GRCh38]
Chr6:129807641 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8298C>T (p.Phe2766=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154300]|LAMA2-related muscular dystrophy [RCV000654765]|not provided [RCV003424259] Chr6:129502712 [GRCh38]
Chr6:129823857 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4059-3T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000654767]|not provided [RCV003129977] Chr6:129320535 [GRCh38]
Chr6:129641680 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5969-5C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001088307]|not provided [RCV000841060] Chr6:129438641 [GRCh38]
Chr6:129759786 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.945C>T (p.Gly315=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654775] Chr6:129149014 [GRCh38]
Chr6:129470159 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244T>C (p.His2748=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000654780] Chr6:129492483 [GRCh38]
Chr6:129813628 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129516170)_(129516367_?)del deletion LAMA2-related muscular dystrophy [RCV000654782] Chr6:129516170..129516367 [GRCh38]
Chr6:129837315..129837512 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.12:g.(?_128883226)_(129516367_?)del deletion LAMA2-related muscular dystrophy [RCV000654783] Chr6:128883226..129516367 [GRCh38]
Chr6:129204371..129837512 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.12:g.(?_129349278)_(129403979_?)del deletion LAMA2-related muscular dystrophy [RCV000654784] Chr6:129349278..129403979 [GRCh38]
Chr6:129670423..129725124 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129371043)_(129622037_?)dup duplication LAMA2-related muscular dystrophy [RCV000654785] Chr6:129049898..129300892 [GRCh38]
Chr6:129371043..129622037 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5317C>T (p.Arg1773Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001860336]|not provided [RCV003139929]|not specified [RCV000614320] Chr6:129393127 [GRCh38]
Chr6:129714272 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9212-11G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154397]|LAMA2-related muscular dystrophy [RCV002064151]|not provided [RCV001707798] Chr6:129516179 [GRCh38]
Chr6:129837324 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6890T>C (p.Ile2297Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000558182] Chr6:129460222 [GRCh38]
Chr6:129781367 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3382A>G (p.Ser1128Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV000535688] Chr6:129313068 [GRCh38]
Chr6:129634213 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6085+17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002064147]|not specified [RCV000603923] Chr6:129438779 [GRCh38]
Chr6:129759924 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+2T>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000671972] Chr6:129403961 [GRCh38]
Chr6:129725106 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4468GAC[1] (p.Asp1491del) microsatellite Merosin deficient congenital muscular dystrophy [RCV000672046] Chr6:129349329..129349331 [GRCh38]
Chr6:129670474..129670476 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8169_8173del (p.Ala2723_Pro2724insTer) deletion Merosin deficient congenital muscular dystrophy [RCV000672301] Chr6:129492408..129492412 [GRCh38]
Chr6:129813553..129813557 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7109C>T (p.Thr2370Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000536217] Chr6:129464406 [GRCh38]
Chr6:129785551 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4740C>A (p.Gly1580=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000897121]|not specified [RCV000599762] Chr6:129366241 [GRCh38]
Chr6:129687386 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626432] Chr6:112939290..132327952 [GRCh37]
Chr6:6q21-23.2		 drug response
NM_000426.4(LAMA2):c.2450+16A>G single nucleotide variant Elevated circulating creatine kinase concentration [RCV000626686]|LAMA2-related muscular dystrophy [RCV002529411]|not specified [RCV000607151] Chr6:129270767 [GRCh38]
Chr6:129591912 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5235-8G>A single nucleotide variant not specified [RCV000603461] Chr6:129393037 [GRCh38]
Chr6:129714182 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8591A>T (p.Asp2864Val) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000626189] Chr6:129505243 [GRCh38]
Chr6:129826388 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4166T>C (p.Leu1389Pro) single nucleotide variant Inborn genetic diseases [RCV002532447]|LAMA2-related muscular dystrophy [RCV000694386]|not provided [RCV000594239] Chr6:129320645 [GRCh38]
Chr6:129641790 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6421G>A (p.Ala2141Thr) single nucleotide variant not provided [RCV000512645] Chr6:129445813 [GRCh38]
Chr6:129766958 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7526T>A (p.Leu2509His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156679]|Merosin deficient congenital muscular dystrophy [RCV000626261] Chr6:129478767 [GRCh38]
Chr6:129799912 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5969-6T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000950598]|not specified [RCV000605877] Chr6:129438640 [GRCh38]
Chr6:129759785 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4960-17C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001857325]|Merosin deficient congenital muscular dystrophy [RCV003470642]|not provided [RCV000513320] Chr6:129383105 [GRCh38]
Chr6:129704250 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.4296A>G (p.Glu1432=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002528596]|not specified [RCV000606393] Chr6:129328397 [GRCh38]
Chr6:129649542 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4699G>A (p.Glu1567Lys) single nucleotide variant Inborn genetic diseases [RCV002533504]|LAMA2-related muscular dystrophy [RCV000697970]|Merosin deficient congenital muscular dystrophy [RCV001333438]|not provided [RCV001555511] Chr6:129353339 [GRCh38]
Chr6:129674484 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2461A>C (p.Thr821Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001049286]|Merosin deficient congenital muscular dystrophy [RCV000664485] Chr6:129280071 [GRCh38]
Chr6:129601216 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3283C>T (p.Arg1095Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240118]|Merosin deficient congenital muscular dystrophy [RCV000671981] Chr6:129312969 [GRCh38]
Chr6:129634114 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1306+2T>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000664685] Chr6:129165677 [GRCh38]
Chr6:129486822 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.77AGC[5] (p.Gln27_Gln28dup) microsatellite Merosin deficient congenital muscular dystrophy [RCV000670882] Chr6:128883319..128883320 [GRCh38]
Chr6:129204464..129204465 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3736-2A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000672465] Chr6:129315760 [GRCh38]
Chr6:129636905 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4517G>C (p.Cys1506Ser) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000672646] Chr6:129349378 [GRCh38]
Chr6:129670523 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3556-13T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001378737]|Merosin deficient congenital muscular dystrophy [RCV000671390] Chr6:129315463 [GRCh38]
Chr6:129636608 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6992+5G>A single nucleotide variant LAMA2-related condition [RCV003411564]|Merosin deficient congenital muscular dystrophy [RCV000673048]|not provided [RCV000657979] Chr6:129460329 [GRCh38]
Chr6:129781474 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.4657A>G (p.Thr1553Ala) single nucleotide variant not provided [RCV000658215] Chr6:129353297 [GRCh38]
Chr6:129674442 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2564C>G (p.Pro855Arg) single nucleotide variant not provided [RCV000658231] Chr6:129287873 [GRCh38]
Chr6:129609018 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5235-18G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002066981]|Merosin deficient congenital muscular dystrophy [RCV000673476] Chr6:129393027 [GRCh38]
Chr6:129714172 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.640-1G>A single nucleotide variant Congenital Muscular Dystrophy, LAMA2-related [RCV001796177]|Merosin deficient congenital muscular dystrophy [RCV000673568] Chr6:129143900 [GRCh38]
Chr6:129465045 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4717+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002531246]|Merosin deficient congenital muscular dystrophy [RCV000670226] Chr6:129353358 [GRCh38]
Chr6:129674503 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6429+1G>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000670249] Chr6:129445822 [GRCh38]
Chr6:129766967 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1467+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000824157]|Merosin deficient congenital muscular dystrophy [RCV000669991]|Merosin deficient congenital muscular dystrophy [RCV000991376] Chr6:129177868 [GRCh38]
Chr6:129499013 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8768AAC[1] (p.Gln2924del) microsatellite Merosin deficient congenital muscular dystrophy [RCV000671640] Chr6:129507553..129507555 [GRCh38]
Chr6:129828698..129828700 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-855A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673577] Chr6:129442208 [GRCh38]
Chr6:129763353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1613A>G (p.Gln538Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000685970] Chr6:129192684 [GRCh38]
Chr6:129513829 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8710_8712dup (p.Tyr2904dup) duplication Merosin deficient congenital muscular dystrophy [RCV000670544] Chr6:129507494..129507495 [GRCh38]
Chr6:129828639..129828640 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-856C>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673792] Chr6:129442207 [GRCh38]
Chr6:129763352 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-831C>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673794] Chr6:129442232 [GRCh38]
Chr6:129763377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-855A>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673796] Chr6:129442208 [GRCh38]
Chr6:129763353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000666723] Chr6:129252296 [GRCh38]
Chr6:129573441 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.819+2dup duplication Merosin deficient congenital muscular dystrophy [RCV000667959] Chr6:129144081..129144082 [GRCh38]
Chr6:129465226..129465227 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2749+2dup duplication LAMA2-related muscular dystrophy [RCV001227525]|Merosin deficient congenital muscular dystrophy [RCV000668141] Chr6:129288059..129288060 [GRCh38]
Chr6:129609204..129609205 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.611C>A (p.Ser204Tyr) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000671204] Chr6:129098387 [GRCh38]
Chr6:129419532 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4524-2A>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000671265] Chr6:129353162 [GRCh38]
Chr6:129674307 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6269-845C>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000674021] Chr6:129442218 [GRCh38]
Chr6:129763363 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.21CCT[4] (p.Leu13dup) microsatellite Merosin deficient congenital muscular dystrophy [RCV000674088] Chr6:128883264..128883265 [GRCh38]
Chr6:129204409..129204410 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5156_5159del (p.Lys1719fs) deletion LAMA2-related muscular dystrophy [RCV003574793]|Merosin deficient congenital muscular dystrophy [RCV000666767] Chr6:129391572..129391575 [GRCh38]
Chr6:129712717..129712720 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1669CAG[1] (p.Gln558del) microsatellite Merosin deficient congenital muscular dystrophy [RCV000668147] Chr6:129192740..129192742 [GRCh38]
Chr6:129513885..129513887 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1122del (p.Gly376fs) deletion LAMA2-related muscular dystrophy [RCV003574797]|Merosin deficient congenital muscular dystrophy [RCV000668156] Chr6:129154599 [GRCh38]
Chr6:129475744 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs) insertion Inborn genetic diseases [RCV002530740]|LAMA2-related muscular dystrophy [RCV001855494]|Merosin deficient congenital muscular dystrophy [RCV000668321]|Merosin deficient congenital muscular dystrophy [RCV002499162]|not provided [RCV003233797] Chr6:129149020..129149021 [GRCh38]
Chr6:129470165..129470166 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4176+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001855496]|Merosin deficient congenital muscular dystrophy [RCV000668352] Chr6:129320656 [GRCh38]
Chr6:129641801 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7732C>G (p.Arg2578Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV000698683] Chr6:129481422 [GRCh38]
Chr6:129802567 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8992_8994dup (p.Met2998dup) duplication Merosin deficient congenital muscular dystrophy [RCV000665583]|not provided [RCV003129982] Chr6:129514373..129514374 [GRCh38]
Chr6:129835518..129835519 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.77AGC[4] (p.Gln28dup) microsatellite LAMA2-related muscular dystrophy [RCV001063982]|Merosin deficient congenital muscular dystrophy [RCV000674166] Chr6:128883319..128883320 [GRCh38]
Chr6:129204464..129204465 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.363C>A (p.Tyr121Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000817157]|Merosin deficient congenital muscular dystrophy [RCV000666830]|not provided [RCV001784240] Chr6:129059863 [GRCh38]
Chr6:129381008 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7572+1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000666862] Chr6:129478814 [GRCh38]
Chr6:129799959 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5562+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001037130]|Merosin deficient congenital muscular dystrophy [RCV000668720]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003388592]|not provided [RCV003144472] Chr6:129401341 [GRCh38]
Chr6:129722486 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6919_6920del (p.Tyr2307fs) deletion LAMA2-related muscular dystrophy [RCV001204025]|Merosin deficient congenital muscular dystrophy [RCV000665857] Chr6:129460250..129460251 [GRCh38]
Chr6:129781395..129781396 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.9211+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003574803]|Merosin deficient congenital muscular dystrophy [RCV000674405] Chr6:129514596 [GRCh38]
Chr6:129835741 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8244+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000809347]|Merosin deficient congenital muscular dystrophy [RCV000665939]|Merosin deficient congenital muscular dystrophy [RCV000763557]|not provided [RCV001597197] Chr6:129492484 [GRCh38]
Chr6:129813629 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6993-2A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001037634]|Merosin deficient congenital muscular dystrophy [RCV000666010] Chr6:129464288 [GRCh38]
Chr6:129785433 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.498G>A (p.Trp166Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001855451]|Merosin deficient congenital muscular dystrophy [RCV000666062]|not provided [RCV000760397] Chr6:129098274 [GRCh38]
Chr6:129419419 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6573+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001219998]|Merosin deficient congenital muscular dystrophy [RCV000666889] Chr6:129453132 [GRCh38]
Chr6:129774277 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4743TCT[1] (p.Leu1583del) microsatellite LAMA2-related muscular dystrophy [RCV001861754]|Merosin deficient congenital muscular dystrophy [RCV000666965] Chr6:129366242..129366244 [GRCh38]
Chr6:129687387..129687389 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.476ATG[1] (p.Asp160del) microsatellite Merosin deficient congenital muscular dystrophy [RCV000673175] Chr6:129098250..129098252 [GRCh38]
Chr6:129419395..129419397 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4640C>T (p.Thr1547Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV002532062]|Merosin deficient congenital muscular dystrophy [RCV000667215]|Merosin deficient congenital muscular dystrophy [RCV000764627] Chr6:129353280 [GRCh38]
Chr6:129674425 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8548-2A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673268] Chr6:129505198 [GRCh38]
Chr6:129826343 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.329G>A (p.Trp110Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792306]|Merosin deficient congenital muscular dystrophy [RCV000673459]|not provided [RCV001784283] Chr6:129059829 [GRCh38]
Chr6:129380974 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2451-6A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001050448]|Merosin deficient congenital muscular dystrophy [RCV000669834] Chr6:129280055 [GRCh38]
Chr6:129601200 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8716_8717insCCA (p.Ser2905_Ile2906insThr) insertion Merosin deficient congenital muscular dystrophy [RCV000670004] Chr6:129507499..129507500 [GRCh38]
Chr6:129828644..129828645 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2089A>G (p.Ile697Val) single nucleotide variant Inborn genetic diseases [RCV002531262]|Merosin deficient congenital muscular dystrophy [RCV000670782]|not specified [RCV003323671] Chr6:129252288 [GRCh38]
Chr6:129573433 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-849C>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673791] Chr6:129442214 [GRCh38]
Chr6:129763359 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9095dup (p.Ile3033fs) duplication Merosin deficient congenital muscular dystrophy [RCV000667356] Chr6:129514477..129514478 [GRCh38]
Chr6:129835622..129835623 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1415_1429del (p.Ser472_Ser476del) deletion Merosin deficient congenital muscular dystrophy [RCV000670535] Chr6:129177811..129177825 [GRCh38]
Chr6:129498956..129498970 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-855A>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673797] Chr6:129442208 [GRCh38]
Chr6:129763353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3294del (p.His1097_Trp1098insTer) deletion LAMA2-related muscular dystrophy [RCV001390275]|Merosin deficient congenital muscular dystrophy [RCV000665399]|not provided [RCV001784232] Chr6:129312979 [GRCh38]
Chr6:129634124 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4107_4109del (p.Met1370del) deletion LAMA2-related muscular dystrophy [RCV001861744]|Merosin deficient congenital muscular dystrophy [RCV000665454]|not provided [RCV003133489] Chr6:129320586..129320588 [GRCh38]
Chr6:129641731..129641733 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-848T>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673799] Chr6:129442215 [GRCh38]
Chr6:129763360 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-829A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673800] Chr6:129442234 [GRCh38]
Chr6:129763379 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-1del deletion LAMA2-related muscular dystrophy [RCV003736879]|Merosin deficient congenital muscular dystrophy [RCV000667525] Chr6:129280060 [GRCh38]
Chr6:129601205 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.106C>T (p.Gln36Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003736880]|Merosin deficient congenital muscular dystrophy [RCV000667526] Chr6:128883351 [GRCh38]
Chr6:129204496 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7933_7941del (p.Tyr2645_Gln2647del) deletion Merosin deficient congenital muscular dystrophy [RCV000674482] Chr6:129491934..129491942 [GRCh38]
Chr6:129813079..129813087 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2749+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001390274]|Merosin deficient congenital muscular dystrophy [RCV000667925]|Merosin deficient congenital muscular dystrophy [RCV001810470] Chr6:129288059 [GRCh38]
Chr6:129609204 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6429+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001041706]|Merosin deficient congenital muscular dystrophy [RCV001810478]|Merosin deficient congenital muscular dystrophy [RCV003465520]|not provided [RCV001784278] Chr6:129445822 [GRCh38]
Chr6:129766967 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5954_5962dup (p.Ala1985_Asp1987dup) duplication LAMA2-related muscular dystrophy [RCV001855458]|Merosin deficient congenital muscular dystrophy [RCV000666320]|not provided [RCV003140062] Chr6:129427838..129427839 [GRCh38]
Chr6:129748983..129748984 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5259del (p.Lys1753_Val1754insTer) deletion LAMA2-related muscular dystrophy [RCV000796871]|Merosin deficient congenital muscular dystrophy [RCV000666391] Chr6:129393064 [GRCh38]
Chr6:129714209 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5449AAG[1] (p.Lys1818del) microsatellite LAMA2-related muscular dystrophy [RCV002531283]|Merosin deficient congenital muscular dystrophy [RCV000671424] Chr6:129401227..129401229 [GRCh38]
Chr6:129722372..129722374 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8076-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001855562]|Merosin deficient congenital muscular dystrophy [RCV000671554] Chr6:129492314 [GRCh38]
Chr6:129813459 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.283C>T (p.Gln95Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001208127]|Merosin deficient congenital muscular dystrophy [RCV000673365]|not provided [RCV001784282] Chr6:129050088 [GRCh38]
Chr6:129371233 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8654T>C (p.Leu2885Pro) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673473] Chr6:129505306 [GRCh38]
Chr6:129826451 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7490_7493dup (p.Asp2498fs) duplication LAMA2-related muscular dystrophy [RCV002531357]|Merosin deficient congenital muscular dystrophy [RCV000674609]|Merosin deficient congenital muscular dystrophy [RCV002499190]|not provided [RCV003126901] Chr6:129478729..129478730 [GRCh38]
Chr6:129799874..129799875 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.9212-2A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000668325] Chr6:129516188 [GRCh38]
Chr6:129837333 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2451-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001216650]|Merosin deficient congenital muscular dystrophy [RCV000665168]|Merosin deficient congenital muscular dystrophy [RCV002477479]|not provided [RCV001091208] Chr6:129280059 [GRCh38]
Chr6:129601204 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6269-831C>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673793] Chr6:129442232 [GRCh38]
Chr6:129763377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-820A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673795] Chr6:129442243 [GRCh38]
Chr6:129763388 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-848T>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673798] Chr6:129442215 [GRCh38]
Chr6:129763360 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1793_1795del (p.Val598del) deletion LAMA2-related muscular dystrophy [RCV001861755]|Merosin deficient congenital muscular dystrophy [RCV000667133]|Merosin deficient congenital muscular dystrophy [RCV002507156] Chr6:129250120..129250122 [GRCh38]
Chr6:129571265..129571267 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8858-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003768015]|Merosin deficient congenital muscular dystrophy [RCV000674842] Chr6:129512362 [GRCh38]
Chr6:129833507 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5325dup (p.Leu1776fs) duplication LAMA2-related condition [RCV003938019]|LAMA2-related muscular dystrophy [RCV001055589]|Merosin deficient congenital muscular dystrophy [RCV000666437] Chr6:129393130..129393131 [GRCh38]
Chr6:129714275..129714276 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2450+5_2450+8del microsatellite Merosin deficient congenital muscular dystrophy [RCV000668728] Chr6:129270749..129270752 [GRCh38]
Chr6:129591894..129591897 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1782+2dup duplication Merosin deficient congenital muscular dystrophy [RCV000668748] Chr6:129192854..129192855 [GRCh38]
Chr6:129513999..129514000 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.819+1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000672488] Chr6:129144081 [GRCh38]
Chr6:129465226 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6573+1G>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000674576] Chr6:129453132 [GRCh38]
Chr6:129774277 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7444A>T (p.Lys2482Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000674687] Chr6:129475394 [GRCh38]
Chr6:129796539 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4199G>A (p.Arg1400Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000685454] Chr6:129328300 [GRCh38]
Chr6:129649445 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6510TGT[1] (p.Val2172del) microsatellite LAMA2-related muscular dystrophy [RCV002532137]|Merosin deficient congenital muscular dystrophy [RCV000672911] Chr6:129453067..129453069 [GRCh38]
Chr6:129774212..129774214 [GRCh37]
Chr6:6q22.33		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.1307-1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000674135] Chr6:129177705 [GRCh38]
Chr6:129498850 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000685584]|Merosin deficient congenital muscular dystrophy [RCV000666604]|not provided [RCV001726299] Chr6:129300783 [GRCh38]
Chr6:129621928 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.61C>T (p.Gln21Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002531335]|Merosin deficient congenital muscular dystrophy [RCV000673285] Chr6:128883306 [GRCh38]
Chr6:129204451 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4477C>T (p.Arg1493Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002066980]|Merosin deficient congenital muscular dystrophy [RCV000673335] Chr6:129349338 [GRCh38]
Chr6:129670483 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7286_7288del (p.Arg2429del) deletion Merosin deficient congenital muscular dystrophy [RCV000664773] Chr6:129465273..129465275 [GRCh38]
Chr6:129786418..129786420 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4692_4695dup (p.Arg1566fs) duplication LAMA2-related muscular dystrophy [RCV001382669]|Merosin deficient congenital muscular dystrophy [RCV000673397] Chr6:129353328..129353329 [GRCh38]
Chr6:129674473..129674474 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.391C>T (p.Gln131Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001861944]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000709619] Chr6:129059891 [GRCh38]
Chr6:129381036 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6269-852A>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000673574] Chr6:129442211 [GRCh38]
Chr6:129763356 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4198C>T (p.Arg1400Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000687779]|Merosin deficient congenital muscular dystrophy [RCV000673723]|not provided [RCV001784287] Chr6:129328299 [GRCh38]
Chr6:129649444 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.9266_9283dup (p.Arg3089_Thr3094dup) duplication Merosin deficient congenital muscular dystrophy [RCV000667806] Chr6:129516241..129516242 [GRCh38]
Chr6:129837386..129837387 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7630A>G (p.Ile2544Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001038706]|Merosin deficient congenital muscular dystrophy [RCV000678266] Chr6:129481320 [GRCh38]
Chr6:129802465 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5460del (p.Val1821fs) deletion Congenital muscular dystrophy [RCV000678476] Chr6:129401238 [GRCh38]
Chr6:129722383 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4707G>A (p.Trp1569Ter) single nucleotide variant Abnormality of the musculature [RCV001814351] Chr6:129353347 [GRCh38]
Chr6:129674492 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1609A>T (p.Ile537Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000687424] Chr6:129192680 [GRCh38]
Chr6:129513825 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.676G>A (p.Asp226Asn) single nucleotide variant Inborn genetic diseases [RCV003344017]|LAMA2-related muscular dystrophy [RCV000702177]|not provided [RCV001507675] Chr6:129143937 [GRCh38]
Chr6:129465082 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.253dup (p.Ile85fs) duplication LAMA2-related muscular dystrophy [RCV000687896] Chr6:129050056..129050057 [GRCh38]
Chr6:129371201..129371202 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1681T>G (p.Leu561Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001231482]|not provided [RCV000712182] Chr6:129192752 [GRCh38]
Chr6:129513897 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3317G>A (p.Cys1106Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001372085]|not provided [RCV000712183] Chr6:129313003 [GRCh38]
Chr6:129634148 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3570T>C (p.Ala1190=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001471159]|not provided [RCV000712185] Chr6:129315490 [GRCh38]
Chr6:129636635 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3661A>G (p.Met1221Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000698247]|not provided [RCV003133549] Chr6:129315581 [GRCh38]
Chr6:129636726 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8893G>A (p.Glu2965Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000697744] Chr6:129512398 [GRCh38]
Chr6:129833543 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7899-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000699972] Chr6:129491900 [GRCh38]
Chr6:129813045 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4456G>T (p.Ala1486Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000700324] Chr6:129349317 [GRCh38]
Chr6:129670462 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.533C>T (p.Thr178Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV000686051]|not provided [RCV001560969] Chr6:129098309 [GRCh38]
Chr6:129419454 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8905C>T (p.Arg2969Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151352]|Inborn genetic diseases [RCV002544760]|LAMA2-related muscular dystrophy [RCV000686730]|Merosin deficient congenital muscular dystrophy [RCV002493149]|Primary dilated cardiomyopathy [RCV001293225]|not provided [RCV002462020] Chr6:129512410 [GRCh38]
Chr6:129833555 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5748C>G (p.Asn1916Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000701418] Chr6:129403842 [GRCh38]
Chr6:129724987 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5405G>A (p.Arg1802His) single nucleotide variant LAMA2-related muscular dystrophy [RCV000701567] Chr6:129393215 [GRCh38]
Chr6:129714360 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8398G>A (p.Gly2800Ser) single nucleotide variant Inborn genetic diseases [RCV002532225]|LAMA2-related muscular dystrophy [RCV000692841]|Merosin deficient congenital muscular dystrophy [RCV001329270] Chr6:129503131 [GRCh38]
Chr6:129824276 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.47G>A (p.Gly16Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV000690212] Chr6:128883292 [GRCh38]
Chr6:129204437 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5023G>A (p.Ala1675Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000694859]|not provided [RCV003133540] Chr6:129383185 [GRCh38]
Chr6:129704330 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2512G>A (p.Gly838Arg) single nucleotide variant Inborn genetic diseases [RCV002532277]|Intellectual disability [RCV001252040]|LAMA2-related muscular dystrophy [RCV000694964]|Merosin deficient congenital muscular dystrophy [RCV002493195]|not provided [RCV001507680] Chr6:129280122 [GRCh38]
Chr6:129601267 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7553C>A (p.Thr2518Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000704758]|Merosin deficient congenital muscular dystrophy [RCV002493240] Chr6:129478794 [GRCh38]
Chr6:129799939 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3343G>C (p.Ala1115Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000695188] Chr6:129313029 [GRCh38]
Chr6:129634174 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9016G>A (p.Gly3006Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000702129] Chr6:129514400 [GRCh38]
Chr6:129835545 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6880G>T (p.Val2294Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000707596] Chr6:129460212 [GRCh38]
Chr6:129781357 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.151C>T (p.Leu51Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV000702355]|not provided [RCV003130014] Chr6:129049956 [GRCh38]
Chr6:129371101 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6079C>A (p.Pro2027Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002532929]|not provided [RCV000712190] Chr6:129438756 [GRCh38]
Chr6:129759901 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6158C>T (p.Ala2053Val) single nucleotide variant not provided [RCV000712191] Chr6:129440888 [GRCh38]
Chr6:129762033 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6518A>T (p.Asn2173Ile) single nucleotide variant not provided [RCV000712193] Chr6:129453076 [GRCh38]
Chr6:129774221 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6764T>C (p.Ile2255Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001861972]|not provided [RCV000712195] Chr6:129456391 [GRCh38]
Chr6:129777536 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9188C>A (p.Pro3063His) single nucleotide variant Inborn genetic diseases [RCV002533723]|LAMA2-related muscular dystrophy [RCV000705025]|Merosin deficient congenital muscular dystrophy [RCV002507237]|not provided [RCV003130020] Chr6:129514572 [GRCh38]
Chr6:129835717 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6692G>A (p.Arg2231His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152903]|LAMA2-related muscular dystrophy [RCV000690990] Chr6:129454273 [GRCh38]
Chr6:129775418 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2759G>A (p.Cys920Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000693785] Chr6:129291623 [GRCh38]
Chr6:129612768 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8444C>G (p.Thr2815Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000705225] Chr6:129503177 [GRCh38]
Chr6:129824322 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.149C>T (p.Ala50Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000691120]|Merosin deficient congenital muscular dystrophy [RCV000754732]|not provided [RCV001766480] Chr6:129049954 [GRCh38]
Chr6:129371099 [GRCh37]
Chr6:6q22.33		 likely pathogenic|likely benign|uncertain significance
NC_000006.11:g.(?_129371063)_(129622017_?)dup duplication LAMA2-related muscular dystrophy [RCV000707981] Chr6:129049918..129300872 [GRCh38]
Chr6:129371063..129622017 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4960-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000684847] Chr6:129383120 [GRCh38]
Chr6:129704265 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7567C>G (p.Leu2523Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000685108] Chr6:129478808 [GRCh38]
Chr6:129799953 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1028-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000685188] Chr6:129154504 [GRCh38]
Chr6:129475649 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4321C>A (p.His1441Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000692430]|not provided [RCV000712187] Chr6:129342352 [GRCh38]
Chr6:129663497 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2339C>T (p.Thr780Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000692275] Chr6:129270640 [GRCh38]
Chr6:129591785 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1133G>A (p.Cys378Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000686506] Chr6:129154610 [GRCh38]
Chr6:129475755 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4860+2delinsGGCC indel Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000709618] Chr6:129366363 [GRCh38]
Chr6:129687508 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3610C>T (p.His1204Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000698461]|not provided [RCV003133550] Chr6:129315530 [GRCh38]
Chr6:129636675 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3072C>A (p.Asp1024Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000704196] Chr6:129300770 [GRCh38]
Chr6:129621915 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5158G>C (p.Glu1720Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154811]|LAMA2-related muscular dystrophy [RCV001067756]|Merosin deficient congenital muscular dystrophy [RCV000709966]|not provided [RCV003133573] Chr6:129391577 [GRCh38]
Chr6:129712722 [GRCh37]
Chr6:6q22.33		 uncertain significance|not provided
NM_000426.4(LAMA2):c.3487T>C (p.Cys1163Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000690400] Chr6:129314730 [GRCh38]
Chr6:129635875 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.410C>T (p.Ala137Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000707264]|not provided [RCV003133572] Chr6:129098186 [GRCh38]
Chr6:129419331 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1262C>A (p.Ser421Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001861971]|not provided [RCV000712180] Chr6:129165631 [GRCh38]
Chr6:129486776 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6569A>C (p.Lys2190Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000707465] Chr6:129453127 [GRCh38]
Chr6:129774272 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4189G>C (p.Gly1397Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000699956] Chr6:129328290 [GRCh38]
Chr6:129649435 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3314T>C (p.Leu1105Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000686253]|not provided [RCV003133507] Chr6:129313000 [GRCh38]
Chr6:129634145 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5608C>A (p.Leu1870Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000703361] Chr6:129402369 [GRCh38]
Chr6:129723514 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9161C>A (p.Ala3054Glu) single nucleotide variant Intellectual disability [RCV001252046]|LAMA2-related muscular dystrophy [RCV000703407]|Merosin deficient congenital muscular dystrophy [RCV000764637]|not provided [RCV000998685] Chr6:129514545 [GRCh38]
Chr6:129835690 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.8547+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000700827] Chr6:129503282 [GRCh38]
Chr6:129824427 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.712G>A (p.Ala238Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000692286]|Merosin deficient congenital muscular dystrophy [RCV002499234]|not provided [RCV003130001] Chr6:129143973 [GRCh38]
Chr6:129465118 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7300+38T>G single nucleotide variant not provided [RCV001567841] Chr6:129465327 [GRCh38]
Chr6:129786472 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+233del deletion not provided [RCV001548275] Chr6:129147265 [GRCh38]
Chr6:129468410 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6p25.3-q27(chr6:108666-170980171)x3 copy number gain not provided [RCV000745403] Chr6:108666..170980171 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6p25.3-q27(chr6:60107-171054786)x3 copy number gain not provided [RCV000745400] Chr6:60107..171054786 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_000426.4(LAMA2):c.8075+1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000754731] Chr6:129492078 [GRCh38]
Chr6:129813223 [GRCh37]
Chr6:6q22.33		 likely pathogenic
GRCh37/hg19 6p25.3-q27(chr6:165632-170919470)x3 copy number gain not provided [RCV000745404] Chr6:165632..170919470 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
GRCh37/hg19 6q22.33(chr6:129188482-129574015)x3 copy number gain not provided [RCV000746030] Chr6:129188482..129574015 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4674C>T (p.Asp1558=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000918899] Chr6:129353314 [GRCh38]
Chr6:129674459 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7983C>T (p.Phe2661=) single nucleotide variant LAMA2-related condition [RCV003938304]|LAMA2-related muscular dystrophy [RCV000871535] Chr6:129491985 [GRCh38]
Chr6:129813130 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-335C>A single nucleotide variant not provided [RCV001584771] Chr6:129400889 [GRCh38]
Chr6:129722034 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2834del (p.Gly945fs) deletion Congenital muscular dystrophy [RCV001541905] Chr6:129291696 [GRCh38]
Chr6:129612841 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2897C>T (p.Pro966Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002573212]|not provided [RCV001571315] Chr6:129297725 [GRCh38]
Chr6:129618870 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7156-21G>T single nucleotide variant not provided [RCV001584663] Chr6:129465124 [GRCh38]
Chr6:129786269 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-116A>G single nucleotide variant not provided [RCV001533905] Chr6:129401108 [GRCh38]
Chr6:129722253 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.294G>A (p.Pro98=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000871940] Chr6:129059794 [GRCh38]
Chr6:129380939 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+231_909+233del deletion not provided [RCV001546176] Chr6:129147265..129147267 [GRCh38]
Chr6:129468410..129468412 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1207-10T>A single nucleotide variant LAMA2-related condition [RCV003948199]|LAMA2-related muscular dystrophy [RCV000872908] Chr6:129165566 [GRCh38]
Chr6:129486711 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5028G>A (p.Lys1676=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001467219] Chr6:129383190 [GRCh38]
Chr6:129704335 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.284-258T>C single nucleotide variant not provided [RCV001585197] Chr6:129059526 [GRCh38]
Chr6:129380671 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7659A>G (p.Ser2553=) single nucleotide variant LAMA2-related condition [RCV003920441]|LAMA2-related muscular dystrophy [RCV000875253] Chr6:129481349 [GRCh38]
Chr6:129802494 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) deletion Merosin deficient congenital muscular dystrophy [RCV001638186] Chr6:129486499 [GRCh38]
Chr6:129807644 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.54G>A (p.Gly18=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001411826] Chr6:128883299 [GRCh38]
Chr6:129204444 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+233T>A single nucleotide variant not provided [RCV001725667] Chr6:128883590 [GRCh38]
Chr6:129204735 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3063T>C (p.Asn1021=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000873775] Chr6:129300761 [GRCh38]
Chr6:129621906 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4002T>G (p.Tyr1334Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001224973]|not provided [RCV000760889] Chr6:129316115 [GRCh38]
Chr6:129637260 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000798368]|Merosin deficient congenital muscular dystrophy [RCV000761500] Chr6:129316068 [GRCh38]
Chr6:129637213 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2208+182T>C single nucleotide variant not provided [RCV001569124] Chr6:129261004 [GRCh38]
Chr6:129582149 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6574-197dup duplication not provided [RCV001725727] Chr6:129453945..129453946 [GRCh38]
Chr6:129775090..129775091 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001858676]|Merosin deficient congenital muscular dystrophy [RCV000987769] Chr6:129312921 [GRCh38]
Chr6:129634066 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs) microsatellite Merosin deficient congenital muscular dystrophy [RCV000987771] Chr6:129315480..129315481 [GRCh38]
Chr6:129636625..129636626 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003736951]|Merosin deficient congenital muscular dystrophy [RCV000987775] Chr6:129440926 [GRCh38]
Chr6:129762071 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9014C>T (p.Ala3005Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001055472]|Merosin deficient congenital muscular dystrophy [RCV002482001]|not provided [RCV001806002] Chr6:129514398 [GRCh38]
Chr6:129835543 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1885-201C>T single nucleotide variant not provided [RCV001566273] Chr6:129251883 [GRCh38]
Chr6:129573028 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1306+269AG[4] microsatellite not provided [RCV001667815] Chr6:129165944..129165945 [GRCh38]
Chr6:129487089..129487090 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5059C>T (p.Arg1687Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001058668]|not provided [RCV003130137] Chr6:129383221 [GRCh38]
Chr6:129704366 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5899G>T (p.Ala1967Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002549788]|not provided [RCV000992263] Chr6:129427785 [GRCh38]
Chr6:129748930 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5071+3156A>G single nucleotide variant not provided [RCV001681068] Chr6:129386389 [GRCh38]
Chr6:129707534 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.445C>T (p.Pro149Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001059238] Chr6:129098221 [GRCh38]
Chr6:129419366 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6274+24C>T single nucleotide variant not provided [RCV001548369] Chr6:129443092 [GRCh38]
Chr6:129764237 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+283T>C single nucleotide variant not provided [RCV001548699] Chr6:129383516 [GRCh38]
Chr6:129704661 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-122G>A single nucleotide variant not provided [RCV001725108] Chr6:129190083 [GRCh38]
Chr6:129511228 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5234+140ATCT[7] microsatellite not provided [RCV001692580] Chr6:129391792..129391793 [GRCh38]
Chr6:129712937..129712938 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.283+214G>A single nucleotide variant not provided [RCV001568474] Chr6:129050302 [GRCh38]
Chr6:129371447 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+265C>T single nucleotide variant not provided [RCV001583874] Chr6:129370255 [GRCh38]
Chr6:129691400 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+172A>T single nucleotide variant not provided [RCV001666747] Chr6:129492655 [GRCh38]
Chr6:129813800 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7884A>G (p.Val2628=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000942593] Chr6:129486608 [GRCh38]
Chr6:129807753 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9306G>A (p.Glu3102=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002066203] Chr6:129516284 [GRCh38]
Chr6:129837429 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7668C>T (p.Thr2556=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000900494] Chr6:129481358 [GRCh38]
Chr6:129802503 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.243G>T (p.Pro81=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000879854]|not provided [RCV003424435] Chr6:129050048 [GRCh38]
Chr6:129371193 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2019A>G (p.Glu673=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000902402] Chr6:129252218 [GRCh38]
Chr6:129573363 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4749C>T (p.Leu1583=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152680]|LAMA2-related muscular dystrophy [RCV001491830]|not provided [RCV003432849] Chr6:129366250 [GRCh38]
Chr6:129687395 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4812G>A (p.Ala1604=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000883217] Chr6:129366313 [GRCh38]
Chr6:129687458 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4803G>A (p.Pro1601=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000878908]|not provided [RCV001796300] Chr6:129366304 [GRCh38]
Chr6:129687449 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.1842A>G (p.Glu614=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453849] Chr6:129250171 [GRCh38]
Chr6:129571316 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-10C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000946085] Chr6:129516180 [GRCh38]
Chr6:129837325 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8022C>T (p.Leu2674=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001417985] Chr6:129492024 [GRCh38]
Chr6:129813169 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1125G>T (p.Gly375=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468930] Chr6:129154602 [GRCh38]
Chr6:129475747 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.357C>T (p.Ile119=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000883355] Chr6:129059857 [GRCh38]
Chr6:129381002 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3348A>G (p.Thr1116=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001392291] Chr6:129313034 [GRCh38]
Chr6:129634179 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.903G>A (p.Ala301=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000877274]|not provided [RCV003432853] Chr6:129147042 [GRCh38]
Chr6:129468187 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6696C>T (p.Ile2232=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000945365] Chr6:129454277 [GRCh38]
Chr6:129775422 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3852T>C (p.Ala1284=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001502834] Chr6:129315878 [GRCh38]
Chr6:129637023 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4523+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001435049] Chr6:129349392 [GRCh38]
Chr6:129670537 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+9C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000876116] Chr6:129403968 [GRCh38]
Chr6:129725113 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-10T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001493139] Chr6:129270614 [GRCh38]
Chr6:129591759 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6558T>C (p.Leu2186=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000983259] Chr6:129453116 [GRCh38]
Chr6:129774261 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3735+8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000926955] Chr6:129315663 [GRCh38]
Chr6:129636808 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3003C>T (p.His1001=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000927659] Chr6:129297831 [GRCh38]
Chr6:129618976 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1771C>T (p.Leu591=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000876171] Chr6:129192842 [GRCh38]
Chr6:129513987 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5969-8A>T single nucleotide variant not provided [RCV000946300] Chr6:129438638 [GRCh38]
Chr6:129759783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7626G>A (p.Val2542=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000876561] Chr6:129481316 [GRCh38]
Chr6:129802461 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4462G>A (p.Gly1488Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000945558]|not provided [RCV002293496] Chr6:129349323 [GRCh38]
Chr6:129670468 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6567C>T (p.Ala2189=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152898]|LAMA2-related muscular dystrophy [RCV000875641]|not provided [RCV001091211] Chr6:129453125 [GRCh38]
Chr6:129774270 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1506C>T (p.Ser502=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000865348] Chr6:129190243 [GRCh38]
Chr6:129511388 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7023T>A (p.Ile2341=) single nucleotide variant not provided [RCV000926218] Chr6:129464320 [GRCh38]
Chr6:129785465 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7800C>T (p.Ser2600=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468528] Chr6:129486524 [GRCh38]
Chr6:129807669 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2427T>C (p.Cys809=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156368]|LAMA2-related muscular dystrophy [RCV000875862] Chr6:129270728 [GRCh38]
Chr6:129591873 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4641G>A (p.Thr1547=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000949137] Chr6:129353281 [GRCh38]
Chr6:129674426 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4554C>A (p.Gly1518=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000927835]|not provided [RCV003432923] Chr6:129353194 [GRCh38]
Chr6:129674339 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1410C>T (p.Asn470=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000944214] Chr6:129177809 [GRCh38]
Chr6:129498954 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9168A>C (p.Thr3056=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422037] Chr6:129514552 [GRCh38]
Chr6:129835697 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.216T>C (p.His72=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000920274] Chr6:129050021 [GRCh38]
Chr6:129371166 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8841C>T (p.Thr2947=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000950977] Chr6:129507626 [GRCh38]
Chr6:129828771 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3300C>T (p.Tyr1100=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003768730] Chr6:129312986 [GRCh38]
Chr6:129634131 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1737G>T (p.Pro579=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000977114] Chr6:129192808 [GRCh38]
Chr6:129513953 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4436+8T>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158147]|LAMA2-related muscular dystrophy [RCV000951028]|not provided [RCV001288667] Chr6:129342475 [GRCh38]
Chr6:129663620 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9034T>C (p.Tyr3012His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001044047] Chr6:129514418 [GRCh38]
Chr6:129835563 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4533del (p.Gly1512fs) deletion LAMA2-related muscular dystrophy [RCV001044223]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002468617] Chr6:129353173 [GRCh38]
Chr6:129674318 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9008A>G (p.Asn3003Ser) single nucleotide variant Inborn genetic diseases [RCV002553230]|LAMA2-related muscular dystrophy [RCV001050685] Chr6:129514392 [GRCh38]
Chr6:129835537 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6072del (p.Ala2025fs) deletion LAMA2-related muscular dystrophy [RCV001050754] Chr6:129438749 [GRCh38]
Chr6:129759894 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.12:g.(?_128883236)_(128883367_?)del deletion LAMA2-related muscular dystrophy [RCV001031440] Chr6:129204381..129204512 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7343A>G (p.Asn2448Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001039072] Chr6:129473256 [GRCh38]
Chr6:129794401 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8164G>A (p.Ala2722Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001052920] Chr6:129492403 [GRCh38]
Chr6:129813548 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3449_3453del (p.Pro1150fs) deletion LAMA2-related muscular dystrophy [RCV001071447] Chr6:129314689..129314693 [GRCh38]
Chr6:129635834..129635838 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1027+3A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001061757]|not provided [RCV002225789] Chr6:129149099 [GRCh38]
Chr6:129470244 [GRCh37]
Chr6:6q22.33		 pathogenic|likely benign|uncertain significance
NM_000426.4(LAMA2):c.5284C>T (p.Arg1762Trp) single nucleotide variant Inborn genetic diseases [RCV002555879]|LAMA2-related muscular dystrophy [RCV001069055]|not provided [RCV003132211] Chr6:129393094 [GRCh38]
Chr6:129714239 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1625G>A (p.Gly542Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001069263] Chr6:129192696 [GRCh38]
Chr6:129513841 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8575G>A (p.Gly2859Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001069315] Chr6:129505227 [GRCh38]
Chr6:129826372 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7176G>C (p.Glu2392Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001065285] Chr6:129465165 [GRCh38]
Chr6:129786310 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129049908)_(129165685_?)dup duplication LAMA2-related muscular dystrophy [RCV001031787] Chr6:129371053..129486830 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129049908)_(129300882_?)dup duplication LAMA2-related muscular dystrophy [RCV001032780] Chr6:129371053..129622027 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.251G>A (p.Arg84Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001062316] Chr6:129050056 [GRCh38]
Chr6:129371201 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6868-3C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001066116] Chr6:129460197 [GRCh38]
Chr6:129781342 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129353154)_(129366371_?)dup duplication LAMA2-related muscular dystrophy [RCV001031881] Chr6:129674299..129687516 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3079A>G (p.Thr1027Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001048403] Chr6:129300777 [GRCh38]
Chr6:129621922 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6150_6156del (p.Asp2050fs) deletion LAMA2-related muscular dystrophy [RCV001070236] Chr6:129440880..129440886 [GRCh38]
Chr6:129762025..129762031 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.12:g.(?_129177696)_(129177876_?)del deletion LAMA2-related muscular dystrophy [RCV001032124] Chr6:129498841..129499021 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1727A>G (p.Gln576Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001036056] Chr6:129192798 [GRCh38]
Chr6:129513943 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1190del (p.Phe397fs) deletion LAMA2-related muscular dystrophy [RCV001036282] Chr6:129154666 [GRCh38]
Chr6:129475811 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7623del (p.Val2542fs) deletion LAMA2-related muscular dystrophy [RCV001036283] Chr6:129481313 [GRCh38]
Chr6:129802458 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4312-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001042960] Chr6:129342342 [GRCh38]
Chr6:129663487 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6820del (p.Asp2274fs) deletion Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000779486]|LAMA2-related muscular dystrophy [RCV001856176] Chr6:129456446 [GRCh38]
Chr6:129777591 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.2635T>A (p.Cys879Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792230] Chr6:129287944 [GRCh38]
Chr6:129609089 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4763G>T (p.Arg1588Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000808906] Chr6:129366264 [GRCh38]
Chr6:129687409 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1425G>T (p.Gly475=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809063] Chr6:129177824 [GRCh38]
Chr6:129498969 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6624G>C (p.Trp2208Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792596]|Merosin deficient congenital muscular dystrophy [RCV001196576] Chr6:129454205 [GRCh38]
Chr6:129775350 [GRCh37]
Chr6:6q22.33		 uncertain significance
Single allele duplication Muscle dystrophy [RCV000787468] Chr6:129655050..129670080 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6956G>A (p.Arg2319Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809335]|not provided [RCV003311893] Chr6:129460288 [GRCh38]
Chr6:129781433 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7452-298A>G single nucleotide variant not provided [RCV000827885] Chr6:129478395 [GRCh38]
Chr6:129799540 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs) duplication Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000778777]|LAMA2-related muscular dystrophy [RCV000796627]|Merosin deficient congenital muscular dystrophy [RCV002249477] Chr6:129393094..129393095 [GRCh38]
Chr6:129714239..129714240 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4850A>G (p.Gln1617Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000806429]|not specified [RCV003396410] Chr6:129366351 [GRCh38]
Chr6:129687496 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4311+7_4311+9del deletion LAMA2-related muscular dystrophy [RCV000966816] Chr6:129328417..129328419 [GRCh38]
Chr6:129649562..129649564 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+9_1782+10delinsTA indel LAMA2-related muscular dystrophy [RCV001446653] Chr6:129192862..129192863 [GRCh38]
Chr6:129514007..129514008 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7206C>T (p.Tyr2402=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000876468]|not provided [RCV001534177] Chr6:129465195 [GRCh38]
Chr6:129786340 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1725G>A (p.Arg575=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000944500] Chr6:129192796 [GRCh38]
Chr6:129513941 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.861C>T (p.Cys287=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000979054] Chr6:129147000 [GRCh38]
Chr6:129468145 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8684C>G (p.Thr2895Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156797]|Inborn genetic diseases [RCV003243359]|LAMA2-related muscular dystrophy [RCV000873824]|not provided [RCV002261234] Chr6:129505336 [GRCh38]
Chr6:129826481 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7773C>T (p.Asn2591=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002066085] Chr6:129486497 [GRCh38]
Chr6:129807642 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-6C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000979125] Chr6:129098167 [GRCh38]
Chr6:129419312 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4527T>C (p.Cys1509=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000875248] Chr6:129353167 [GRCh38]
Chr6:129674312 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5531G>A (p.Arg1844His) single nucleotide variant LAMA2-related muscular dystrophy [RCV000873582]|not provided [RCV001545026] Chr6:129401309 [GRCh38]
Chr6:129722454 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3564G>A (p.Leu1188=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000939993] Chr6:129315484 [GRCh38]
Chr6:129636629 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7153C>T (p.Leu2385=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154188]|LAMA2-related muscular dystrophy [RCV000973879] Chr6:129464450 [GRCh38]
Chr6:129785595 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2886G>A (p.Arg962=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000908309] Chr6:129297714 [GRCh38]
Chr6:129618859 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4157A>T (p.Tyr1386Phe) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158143]|LAMA2-related muscular dystrophy [RCV000872529]|not specified [RCV001844243] Chr6:129320636 [GRCh38]
Chr6:129641781 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.522G>T (p.Thr174=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001447114] Chr6:129098298 [GRCh38]
Chr6:129419443 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7515G>A (p.Pro2505=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000878374] Chr6:129478756 [GRCh38]
Chr6:129799901 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4179A>G (p.Ala1393=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444064] Chr6:129328280 [GRCh38]
Chr6:129649425 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4938A>G (p.Glu1646=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000897267] Chr6:129369969 [GRCh38]
Chr6:129691114 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6186C>T (p.Leu2062=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001469376] Chr6:129440916 [GRCh38]
Chr6:129762061 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8835C>T (p.Asp2945=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000877238] Chr6:129507620 [GRCh38]
Chr6:129828765 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4167G>A (p.Leu1389=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403329] Chr6:129320646 [GRCh38]
Chr6:129641791 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4992C>T (p.Thr1664=) single nucleotide variant LAMA2-related condition [RCV003970815]|LAMA2-related muscular dystrophy [RCV000960337]|not provided [RCV003132128] Chr6:129383154 [GRCh38]
Chr6:129704299 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7118C>T (p.Ser2373Leu) single nucleotide variant Inborn genetic diseases [RCV002539271]|LAMA2-related muscular dystrophy [RCV001081161]|not provided [RCV000878744] Chr6:129464415 [GRCh38]
Chr6:129785560 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6338_6343del (p.Leu2113_Lys2114del) deletion LAMA2-related muscular dystrophy [RCV001494330] Chr6:129445726..129445731 [GRCh38]
Chr6:129766871..129766876 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5517C>T (p.Leu1839=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422404] Chr6:129401295 [GRCh38]
Chr6:129722440 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8760C>G (p.Ala2920=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000982391] Chr6:129507545 [GRCh38]
Chr6:129828690 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1230A>C (p.Pro410=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403782] Chr6:129165599 [GRCh38]
Chr6:129486744 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3037+10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001488965] Chr6:129297875 [GRCh38]
Chr6:129619020 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3004G>A (p.Gly1002Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152571]|LAMA2-related condition [RCV003930433]|LAMA2-related muscular dystrophy [RCV001081881]|not provided [RCV000876327] Chr6:129297832 [GRCh38]
Chr6:129618977 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3576G>A (p.Gln1192=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000979767] Chr6:129315496 [GRCh38]
Chr6:129636641 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4301C>T (p.Ser1434Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001085031]|not provided [RCV000960753] Chr6:129328402 [GRCh38]
Chr6:129649547 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3513T>C (p.Thr1171=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000960755] Chr6:129314756 [GRCh38]
Chr6:129635901 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.396+8T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000874505] Chr6:129059904 [GRCh38]
Chr6:129381049 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2724T>C (p.Asp908=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000904544] Chr6:129288033 [GRCh38]
Chr6:129609178 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6768G>C (p.Val2256=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468897] Chr6:129456395 [GRCh38]
Chr6:129777540 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6506A>G (p.Asn2169Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001086147]|not provided [RCV000875808] Chr6:129453064 [GRCh38]
Chr6:129774209 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6450A>T (p.Ser2150=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000943735]|not provided [RCV001570804] Chr6:129453008 [GRCh38]
Chr6:129774153 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+7T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000943741] Chr6:129445828 [GRCh38]
Chr6:129766973 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7869A>G (p.Glu2623=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151226]|LAMA2-related condition [RCV003903227]|LAMA2-related muscular dystrophy [RCV000951724]|not provided [RCV001585881] Chr6:129486593 [GRCh38]
Chr6:129807738 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.3396G>C (p.Gly1132=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399814] Chr6:129313082 [GRCh38]
Chr6:129634227 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3000C>G (p.Ala1000=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001471583] Chr6:129297828 [GRCh38]
Chr6:129618973 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7131G>A (p.Leu2377=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000877931] Chr6:129464428 [GRCh38]
Chr6:129785573 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9339C>T (p.Gly3113=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000907641] Chr6:129516317 [GRCh38]
Chr6:129837462 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6954C>T (p.Phe2318=) single nucleotide variant not provided [RCV000907644] Chr6:129460286 [GRCh38]
Chr6:129781431 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1233C>T (p.Cys411=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001457381] Chr6:129165602 [GRCh38]
Chr6:129486747 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6405C>T (p.Asn2135=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000923339] Chr6:129445797 [GRCh38]
Chr6:129766942 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000939992] Chr6:129267228 [GRCh38]
Chr6:129588373 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7026A>G (p.Gln2342=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453839] Chr6:129464323 [GRCh38]
Chr6:129785468 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.342T>C (p.Ser114=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001496286] Chr6:129059842 [GRCh38]
Chr6:129380987 [GRCh37]
Chr6:6q22.33		 likely benign
Single allele deletion Interstitial 6q microdeletion syndrome [RCV002280353] Chr6:115941808..133892653 [GRCh38]
Chr6:6q22.1-23.2		 pathogenic
GRCh37/hg19 6q22.33-23.2(chr6:129513837-132618991) copy number loss not provided [RCV000767715] Chr6:129513837..132618991 [GRCh37]
Chr6:6q22.33-23.2		 likely pathogenic
NM_000426.4(LAMA2):c.463G>T (p.Glu155Ter) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000778774] Chr6:129098239 [GRCh38]
Chr6:129419384 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1084A>T (p.Arg362Ter) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000778775]|Merosin deficient congenital muscular dystrophy [RCV001263913] Chr6:129154561 [GRCh38]
Chr6:129475706 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.7898+131C>T single nucleotide variant not provided [RCV000839159] Chr6:129486753 [GRCh38]
Chr6:129807898 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2992C>T (p.Arg998Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000820784] Chr6:129297820 [GRCh38]
Chr6:129618965 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3:c.5969-5C>T single nucleotide variant not provided [RCV000841060] Chr6:129759786 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2998G>T (p.Ala1000Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000822595] Chr6:129297826 [GRCh38]
Chr6:129618971 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7781G>A (p.Arg2594His) single nucleotide variant LAMA2-related muscular dystrophy [RCV000813643]|not provided [RCV003130068] Chr6:129486505 [GRCh38]
Chr6:129807650 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.3:c.3037+49G>A single nucleotide variant not provided [RCV000831884] Chr6:129619059 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3038-7G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000797341] Chr6:129300729 [GRCh38]
Chr6:129621874 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.5727-299G>A single nucleotide variant not provided [RCV000830963] Chr6:129403522 [GRCh38]
Chr6:129724667 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.396+5A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000799172] Chr6:129059901 [GRCh38]
Chr6:129381046 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1291A>T (p.Lys431Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000802606]|not provided [RCV003489890] Chr6:129165660 [GRCh38]
Chr6:129486805 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2560C>T (p.Gln854Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000819043] Chr6:129287869 [GRCh38]
Chr6:129609014 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7514C>T (p.Pro2505Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000802671] Chr6:129478755 [GRCh38]
Chr6:129799900 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3213A>G (p.Gln1071=) single nucleotide variant LAMA2-related condition [RCV003920402]|LAMA2-related muscular dystrophy [RCV000871233] Chr6:129312899 [GRCh38]
Chr6:129634044 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.910-311C>A single nucleotide variant not provided [RCV000827874] Chr6:129148668 [GRCh38]
Chr6:129469813 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4718-254C>G single nucleotide variant not provided [RCV000827880] Chr6:129365965 [GRCh38]
Chr6:129687110 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6883C>T (p.Arg2295Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000797530]|not provided [RCV003133616] Chr6:129460215 [GRCh38]
Chr6:129781360 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.323C>T (p.Thr108Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792960] Chr6:129059823 [GRCh38]
Chr6:129380968 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5285G>A (p.Arg1762Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000796894]|Merosin deficient congenital muscular dystrophy [RCV001329265]|not provided [RCV003424342] Chr6:129393095 [GRCh38]
Chr6:129714240 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.281A>G (p.Asn94Ser) single nucleotide variant Inborn genetic diseases [RCV002537422]|LAMA2-related muscular dystrophy [RCV000817554]|not provided [RCV003132094] Chr6:129050086 [GRCh38]
Chr6:129371231 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.144T>C (p.Ser48=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487139] Chr6:129049949 [GRCh38]
Chr6:129371094 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4006A>G (p.Ile1336Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000810266] Chr6:129316119 [GRCh38]
Chr6:129637264 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6884G>A (p.Arg2295His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154186]|LAMA2-related muscular dystrophy [RCV000819344]|not provided [RCV001593014] Chr6:129460216 [GRCh38]
Chr6:129781361 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6269-143C>G single nucleotide variant not provided [RCV000837842] Chr6:129442920 [GRCh38]
Chr6:129764065 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6274+47A>T single nucleotide variant not provided [RCV000837843] Chr6:129443115 [GRCh38]
Chr6:129764260 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6274+60A>G single nucleotide variant not provided [RCV000837844] Chr6:129443128 [GRCh38]
Chr6:129764273 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8767G>A (p.Glu2923Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000806986] Chr6:129507552 [GRCh38]
Chr6:129828697 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7207G>A (p.Asp2403Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000797503]|not provided [RCV003130046] Chr6:129465196 [GRCh38]
Chr6:129786341 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1727_1767del (p.Gln576fs) deletion LAMA2-related muscular dystrophy [RCV000817853]|Merosin deficient congenital muscular dystrophy [RCV003467484] Chr6:129192797..129192837 [GRCh38]
Chr6:129513942..129513982 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4861-59G>A single nucleotide variant not provided [RCV000837972] Chr6:129369833 [GRCh38]
Chr6:129690978 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6073G>C (p.Ala2025Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV000803174] Chr6:129438750 [GRCh38]
Chr6:129759895 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6207C>A (p.Tyr2069Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000819633]|not provided [RCV001784449] Chr6:129440937 [GRCh38]
Chr6:129762082 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2576G>A (p.Gly859Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000804967] Chr6:129287885 [GRCh38]
Chr6:129609030 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6708-8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000821441]|not provided [RCV001766739] Chr6:129456327 [GRCh38]
Chr6:129777472 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1127del (p.Gly376fs) deletion Congenital Muscular Dystrophy, LAMA2-related [RCV000791179]|LAMA2-related muscular dystrophy [RCV002535834] Chr6:129154600 [GRCh38]
Chr6:129475745 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7834A>G (p.Arg2612Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV000806028] Chr6:129486558 [GRCh38]
Chr6:129807703 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1121G>A (p.Gly374Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000799843] Chr6:129154598 [GRCh38]
Chr6:129475743 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4930G>A (p.Val1644Met) single nucleotide variant Intellectual disability [RCV001252045]|LAMA2-related muscular dystrophy [RCV000824038] Chr6:129369961 [GRCh38]
Chr6:129691106 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6086-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001465891]|not provided [RCV000842756] Chr6:129440812 [GRCh38]
Chr6:129761957 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2498A>G (p.Asp833Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV000797886] Chr6:129280108 [GRCh38]
Chr6:129601253 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3:c.8988+15T>C single nucleotide variant not provided [RCV000838258] Chr6:129833653 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-156C>T single nucleotide variant not provided [RCV000843078] Chr6:129478537 [GRCh38]
Chr6:129799682 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7898+102C>A single nucleotide variant not provided [RCV000843084] Chr6:129486724 [GRCh38]
Chr6:129807869 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.3:c.2749+34T>C single nucleotide variant not provided [RCV000843085] Chr6:129609237 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7749+132A>T single nucleotide variant not provided [RCV000843086] Chr6:129481571 [GRCh38]
Chr6:129802716 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7898+178C>T single nucleotide variant not provided [RCV000843087] Chr6:129486800 [GRCh38]
Chr6:129807945 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6708-98C>T single nucleotide variant not provided [RCV000843088] Chr6:129456237 [GRCh38]
Chr6:129777382 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7749+160A>G single nucleotide variant not provided [RCV000843095] Chr6:129481599 [GRCh38]
Chr6:129802744 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.3:c.6993-44T>C single nucleotide variant not provided [RCV000843099] Chr6:129785391 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8245-159A>G single nucleotide variant not provided [RCV000843100] Chr6:129502500 [GRCh38]
Chr6:129823645 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7451+74C>T single nucleotide variant not provided [RCV000843101] Chr6:129475475 [GRCh38]
Chr6:129796620 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8989-148T>A single nucleotide variant not provided [RCV000843102] Chr6:129514225 [GRCh38]
Chr6:129835370 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6993-153G>A single nucleotide variant not provided [RCV000843103] Chr6:129464137 [GRCh38]
Chr6:129785282 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.9211+74G>A single nucleotide variant not provided [RCV000843104] Chr6:129514669 [GRCh38]
Chr6:129835814 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8076-114C>T single nucleotide variant not provided [RCV000843105] Chr6:129492201 [GRCh38]
Chr6:129813346 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4059-207G>A single nucleotide variant not provided [RCV000829834] Chr6:129320331 [GRCh38]
Chr6:129641476 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.9101A>G (p.Lys3034Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000799998] Chr6:129514485 [GRCh38]
Chr6:129835630 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.277C>A (p.Pro93Thr) single nucleotide variant not provided [RCV000998679] Chr6:129050082 [GRCh38]
Chr6:129371227 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3172A>T (p.Lys1058Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263637]|not provided [RCV000998683] Chr6:129300870 [GRCh38]
Chr6:129622015 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1208T>C (p.Val403Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV000794601] Chr6:129165577 [GRCh38]
Chr6:129486722 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129419305)_(129475838_?)dup duplication LAMA2-related muscular dystrophy [RCV000798808] Chr6:129098160..129154693 [GRCh38]
Chr6:129419305..129475838 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1783-257C>G single nucleotide variant not provided [RCV000832896] Chr6:129249855 [GRCh38]
Chr6:129571000 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.159G>A (p.Thr53=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000976807] Chr6:129049964 [GRCh38]
Chr6:129371109 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs) deletion LAMA2-related muscular dystrophy [RCV001858611]|Merosin deficient congenital muscular dystrophy [RCV000985076]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003338889]|not provided [RCV001507677] Chr6:129252089..129252093 [GRCh38]
Chr6:129573234..129573238 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2888G>T (p.Gly963Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000807774] Chr6:129297716 [GRCh38]
Chr6:129618861 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.716G>A (p.Arg239His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152378]|LAMA2-related muscular dystrophy [RCV000794917]|Merosin deficient congenital muscular dystrophy [RCV001839022]|not provided [RCV003133605] Chr6:129143977 [GRCh38]
Chr6:129465122 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8988+286A>G single nucleotide variant not provided [RCV000833243] Chr6:129512779 [GRCh38]
Chr6:129833924 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-2A>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000785954] Chr6:129314653 [GRCh38]
Chr6:129635798 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8548-288T>C single nucleotide variant not provided [RCV000830652] Chr6:129504912 [GRCh38]
Chr6:129826057 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6274+152G>A single nucleotide variant not provided [RCV000836882] Chr6:129443220 [GRCh38]
Chr6:129764365 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.283+300G>A single nucleotide variant not provided [RCV000844205] Chr6:129050388 [GRCh38]
Chr6:129371533 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3038-295A>G single nucleotide variant not provided [RCV000844208] Chr6:129300441 [GRCh38]
Chr6:129621586 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.750A>T (p.Thr250=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399804] Chr6:129144011 [GRCh38]
Chr6:129465156 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6690C>A (p.Tyr2230Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000808345]|Merosin deficient congenital muscular dystrophy [RCV001264222] Chr6:129454271 [GRCh38]
Chr6:129775416 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NC_000006.12:g.(?_129349288)_(129403969_?)del deletion LAMA2-related muscular dystrophy [RCV000805291] Chr6:129349288..129403969 [GRCh38]
Chr6:129670433..129725114 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.415G>A (p.Val139Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV000811892]|not provided [RCV003130064] Chr6:129098191 [GRCh38]
Chr6:129419336 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.12:g.(?_128883236)_(129098425_?)del deletion LAMA2-related muscular dystrophy [RCV000807918] Chr6:128883236..129098425 [GRCh38]
Chr6:129204381..129419570 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6269-282G>A single nucleotide variant not provided [RCV000833518] Chr6:129442781 [GRCh38]
Chr6:129763926 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6707+314T>C single nucleotide variant not provided [RCV000833519] Chr6:129454602 [GRCh38]
Chr6:129775747 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6993-266C>T single nucleotide variant not provided [RCV000833520] Chr6:129464024 [GRCh38]
Chr6:129785169 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4960-3T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000820435] Chr6:129383119 [GRCh38]
Chr6:129704264 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5679T>C (p.Ala1893=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000871139] Chr6:129402440 [GRCh38]
Chr6:129723585 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2068_2071del (p.Tyr690fs) deletion LAMA2-related muscular dystrophy [RCV000808563] Chr6:129252264..129252267 [GRCh38]
Chr6:129573409..129573412 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3803C>T (p.Ser1268Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809146]|Merosin deficient congenital muscular dystrophy [RCV002495112] Chr6:129315829 [GRCh38]
Chr6:129636974 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7075C>T (p.Pro2359Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792290]|not provided [RCV002261205] Chr6:129464372 [GRCh38]
Chr6:129785517 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1369G>A (p.Ala457Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000812320]|not specified [RCV001816884] Chr6:129177768 [GRCh38]
Chr6:129498913 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2323-254C>T single nucleotide variant not provided [RCV000830622] Chr6:129270370 [GRCh38]
Chr6:129591515 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6443del (p.Val2148fs) deletion LAMA2-related muscular dystrophy [RCV000817121] Chr6:129453001 [GRCh38]
Chr6:129774146 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5825C>T (p.Ala1942Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000792746] Chr6:129403919 [GRCh38]
Chr6:129725064 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9149_9155del (p.Ser3050fs) microsatellite LAMA2-related muscular dystrophy [RCV000792518] Chr6:129514524..129514530 [GRCh38]
Chr6:129835669..129835675 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.2153C>A (p.Ala718Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809620]|not provided [RCV003132070] Chr6:129260767 [GRCh38]
Chr6:129581912 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8587G>A (p.Val2863Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809494] Chr6:129505239 [GRCh38]
Chr6:129826384 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6275-102A>G single nucleotide variant not provided [RCV000837861] Chr6:129445565 [GRCh38]
Chr6:129766710 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6708-201T>A single nucleotide variant not provided [RCV000837862] Chr6:129456134 [GRCh38]
Chr6:129777279 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7301-174G>A single nucleotide variant not provided [RCV000837863] Chr6:129473040 [GRCh38]
Chr6:129794185 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5866-336C>T single nucleotide variant not provided [RCV000830964] Chr6:129427416 [GRCh38]
Chr6:129748561 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.443G>A (p.Arg148Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV000816699]|Merosin deficient congenital muscular dystrophy [RCV002487801]|not provided [RCV003132092] Chr6:129098219 [GRCh38]
Chr6:129419364 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2827G>A (p.Val943Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV000796562]|not provided [RCV003133613] Chr6:129291691 [GRCh38]
Chr6:129612836 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3435T>G (p.Cys1145Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV000800405] Chr6:129314678 [GRCh38]
Chr6:129635823 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1884+115A>T single nucleotide variant not provided [RCV000838653] Chr6:129250328 [GRCh38]
Chr6:129571473 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5593C>T (p.Pro1865Ser) single nucleotide variant Inborn genetic diseases [RCV002538164]|LAMA2-related muscular dystrophy [RCV000813517]|Merosin deficient congenital muscular dystrophy [RCV002495142] Chr6:129402354 [GRCh38]
Chr6:129723499 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3363G>T (p.Glu1121Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV000817449] Chr6:129313049 [GRCh38]
Chr6:129634194 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3695C>A (p.Pro1232His) single nucleotide variant LAMA2-related muscular dystrophy [RCV000807635]|not provided [RCV003132065] Chr6:129315615 [GRCh38]
Chr6:129636760 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3694C>G (p.Pro1232Ala) single nucleotide variant Inborn genetic diseases [RCV001266073]|LAMA2-related muscular dystrophy [RCV000807645]|not provided [RCV001772085] Chr6:129315614 [GRCh38]
Chr6:129636759 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4075A>G (p.Met1359Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV000823492]|Merosin deficient congenital muscular dystrophy [RCV002478931]|not provided [RCV003130078] Chr6:129320554 [GRCh38]
Chr6:129641699 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4675G>A (p.Gly1559Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152679]|LAMA2-related muscular dystrophy [RCV000821206]|not provided [RCV001508561] Chr6:129353315 [GRCh38]
Chr6:129674460 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6086-16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002068619]|not provided [RCV000842387] Chr6:129440800 [GRCh38]
Chr6:129761945 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.7572+3T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV000814375] Chr6:129478816 [GRCh38]
Chr6:129799961 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3:c.6429+8C>A single nucleotide variant not provided [RCV000840116] Chr6:129766974 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7681G>A (p.Gly2561Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156680]|Inborn genetic diseases [RCV002538198]|LAMA2-related muscular dystrophy [RCV000824335]|not provided [RCV003132111]|not specified [RCV003323737] Chr6:129481371 [GRCh38]
Chr6:129802516 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.3:c.3174+38A>G single nucleotide variant not provided [RCV000843058] Chr6:129622055 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3037+140G>A single nucleotide variant not provided [RCV000843059] Chr6:129298005 [GRCh38]
Chr6:129619150 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3038-156A>G single nucleotide variant not provided [RCV000843060] Chr6:129300580 [GRCh38]
Chr6:129621725 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1306+93T>C single nucleotide variant not provided [RCV000843061] Chr6:129165768 [GRCh38]
Chr6:129486913 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3174+240A>G single nucleotide variant not provided [RCV000843062] Chr6:129301112 [GRCh38]
Chr6:129622257 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1307-115A>C single nucleotide variant not provided [RCV000843063] Chr6:129177591 [GRCh38]
Chr6:129498736 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4312-217T>C single nucleotide variant not provided [RCV000843064] Chr6:129342126 [GRCh38]
Chr6:129663271 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4177-73C>T single nucleotide variant not provided [RCV000843065] Chr6:129328205 [GRCh38]
Chr6:129649350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+211C>T single nucleotide variant not provided [RCV000843066] Chr6:129383444 [GRCh38]
Chr6:129704589 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3411+184G>A single nucleotide variant not provided [RCV000843067] Chr6:129313281 [GRCh38]
Chr6:129634426 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7572+208T>C single nucleotide variant not provided [RCV000843082] Chr6:129479021 [GRCh38]
Chr6:129800166 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7750-136C>G single nucleotide variant not provided [RCV000843083] Chr6:129486338 [GRCh38]
Chr6:129807483 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4909G>C (p.Glu1637Gln) single nucleotide variant not provided [RCV000992262]|not specified [RCV001819700] Chr6:129369940 [GRCh38]
Chr6:129691085 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1027+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000811081] Chr6:129149101 [GRCh38]
Chr6:129470246 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129059774)_(129098425_?)del deletion LAMA2-related muscular dystrophy [RCV000799431] Chr6:129059774..129098425 [GRCh38]
Chr6:129380919..129419570 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8858-229A>G single nucleotide variant not provided [RCV000837229] Chr6:129512134 [GRCh38]
Chr6:129833279 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q22.33(chr6:129236792-129488075)x1 copy number loss not provided [RCV000846395] Chr6:129236792..129488075 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8173G>A (p.Ala2725Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001055254] Chr6:129492412 [GRCh38]
Chr6:129813557 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.112+1G>C single nucleotide variant not provided [RCV001090687] Chr6:128883358 [GRCh38]
Chr6:129204503 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3662T>G (p.Met1221Arg) single nucleotide variant Inborn genetic diseases [RCV002535921]|LAMA2-related muscular dystrophy [RCV000795107]|Merosin deficient congenital muscular dystrophy [RCV002493452]|not provided [RCV003133606] Chr6:129315582 [GRCh38]
Chr6:129636727 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1495C>T (p.Arg499Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000795194]|Merosin deficient congenital muscular dystrophy [RCV001332433]|Merosin deficient congenital muscular dystrophy [RCV002493454]|not provided [RCV001558111]|not specified [RCV002234253] Chr6:129190232 [GRCh38]
Chr6:129511377 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5072-287G>A single nucleotide variant not provided [RCV000827881] Chr6:129391204 [GRCh38]
Chr6:129712349 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.523G>T (p.Glu175Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV000806245] Chr6:129098299 [GRCh38]
Chr6:129419444 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4484C>T (p.Thr1495Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV000810045] Chr6:129349345 [GRCh38]
Chr6:129670490 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1028-6A>G single nucleotide variant not provided [RCV001091207] Chr6:129154499 [GRCh38]
Chr6:129475644 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1382_1383del (p.Thr461fs) deletion LAMA2-related muscular dystrophy [RCV001059765] Chr6:129177781..129177782 [GRCh38]
Chr6:129498926..129498927 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9248C>T (p.Pro3083Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001056584] Chr6:129516226 [GRCh38]
Chr6:129837371 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4456G>A (p.Ala1486Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000811965]|not provided [RCV003130065]|not specified [RCV001731940] Chr6:129349317 [GRCh38]
Chr6:129670462 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6085+262A>G single nucleotide variant not provided [RCV000830440] Chr6:129439024 [GRCh38]
Chr6:129760169 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4059-309T>C single nucleotide variant not provided [RCV000830640] Chr6:129320229 [GRCh38]
Chr6:129641374 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6260C>A (p.Ser2087Tyr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV000784905]|LAMA2-related muscular dystrophy [RCV000784904]|Merosin deficient congenital muscular dystrophy [RCV000784903] Chr6:129440990 [GRCh38]
Chr6:129762135 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5726G>T (p.Gly1909Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001052642] Chr6:129402487 [GRCh38]
Chr6:129723632 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1756_1757delinsCT (p.Ala586Leu) indel LAMA2-related muscular dystrophy [RCV000808754]|not provided [RCV003141815] Chr6:129192827..129192828 [GRCh38]
Chr6:129513972..129513973 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4204C>T (p.Arg1402Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000811067] Chr6:129328305 [GRCh38]
Chr6:129649450 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3070G>A (p.Asp1024Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000811176] Chr6:129300768 [GRCh38]
Chr6:129621913 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6354A>G (p.Glu2118=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000897323] Chr6:129445746 [GRCh38]
Chr6:129766891 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8769dup (p.Gln2924fs) duplication LAMA2-related muscular dystrophy [RCV000806668] Chr6:129507552..129507553 [GRCh38]
Chr6:129828697..129828698 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2670A>C (p.Lys890Asn) single nucleotide variant Inborn genetic diseases [RCV002535897]|LAMA2-related muscular dystrophy [RCV000793875]|not provided [RCV003133602] Chr6:129287979 [GRCh38]
Chr6:129609124 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1494T>A (p.Ser498Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV000795818]|not provided [RCV003133609] Chr6:129190231 [GRCh38]
Chr6:129511376 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1468-268C>T single nucleotide variant not provided [RCV000833156] Chr6:129189937 [GRCh38]
Chr6:129511082 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.284-131C>T single nucleotide variant not provided [RCV000843045] Chr6:129059653 [GRCh38]
Chr6:129380798 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1207-134G>A single nucleotide variant not provided [RCV000843046] Chr6:129165442 [GRCh38]
Chr6:129486587 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.284-86_284-85insG insertion not provided [RCV000843047] Chr6:129059698..129059699 [GRCh38]
Chr6:129380843..129380844 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.3:c.640-26G>A single nucleotide variant not provided [RCV000843048] Chr6:129465020 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1884+130A>T single nucleotide variant not provided [RCV000843049] Chr6:129250343 [GRCh38]
Chr6:129571488 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.819+197G>A single nucleotide variant not provided [RCV000843050] Chr6:129144277 [GRCh38]
Chr6:129465422 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.284-85A>G single nucleotide variant not provided [RCV000843051] Chr6:129059699 [GRCh38]
Chr6:129380844 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2451-244G>A single nucleotide variant not provided [RCV000843052] Chr6:129279817 [GRCh38]
Chr6:129600962 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.909+95A>T single nucleotide variant not provided [RCV000843053] Chr6:129147143 [GRCh38]
Chr6:129468288 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2208+112G>T single nucleotide variant not provided [RCV000843054] Chr6:129260934 [GRCh38]
Chr6:129582079 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2750-196G>T single nucleotide variant not provided [RCV000843055] Chr6:129291418 [GRCh38]
Chr6:129612563 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2750-238A>G single nucleotide variant not provided [RCV000843056] Chr6:129291376 [GRCh38]
Chr6:129612521 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2750-135C>T single nucleotide variant not provided [RCV000843057] Chr6:129291479 [GRCh38]
Chr6:129612624 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5562+149A>G single nucleotide variant not provided [RCV000843068] Chr6:129401489 [GRCh38]
Chr6:129722634 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5726+173T>C single nucleotide variant not provided [RCV000843069] Chr6:129402660 [GRCh38]
Chr6:129723805 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4059-173G>C single nucleotide variant not provided [RCV000843070] Chr6:129320365 [GRCh38]
Chr6:129641510 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5727-72A>G single nucleotide variant not provided [RCV000843073] Chr6:129403749 [GRCh38]
Chr6:129724894 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.3:c.5727-24T>A single nucleotide variant not provided [RCV000843074] Chr6:129724942 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5727-22C>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001730732]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730733]|not provided [RCV000843075] Chr6:129403799 [GRCh38]
Chr6:129724944 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7452-230C>T single nucleotide variant not provided [RCV000843076] Chr6:129478463 [GRCh38]
Chr6:129799608 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5727-21T>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001730734]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001730735]|not provided [RCV000843077] Chr6:129403800 [GRCh38]
Chr6:129724945 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6268+167G>A single nucleotide variant not provided [RCV000843079] Chr6:129441165 [GRCh38]
Chr6:129762310 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5865+211C>G single nucleotide variant not provided [RCV000843080] Chr6:129404170 [GRCh38]
Chr6:129725315 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7573-106G>C single nucleotide variant not provided [RCV000843081] Chr6:129481157 [GRCh38]
Chr6:129802302 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7898+228C>A single nucleotide variant not provided [RCV000843096] Chr6:129486850 [GRCh38]
Chr6:129807995 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6993-216C>T single nucleotide variant not provided [RCV000843097] Chr6:129464074 [GRCh38]
Chr6:129785219 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8245-193T>C single nucleotide variant not provided [RCV000843098] Chr6:129502466 [GRCh38]
Chr6:129823611 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8988+10A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001443942] Chr6:129512503 [GRCh38]
Chr6:129833648 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.522G>A (p.Thr174=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000943029] Chr6:129098298 [GRCh38]
Chr6:129419443 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+314T>C single nucleotide variant not provided [RCV000830654] Chr6:129505669 [GRCh38]
Chr6:129826814 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6927C>T (p.Asp2309=) single nucleotide variant LAMA2-related condition [RCV003908293]|LAMA2-related muscular dystrophy [RCV000873152] Chr6:129460259 [GRCh38]
Chr6:129781404 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6094G>A (p.Ala2032Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000812648]|not provided [RCV003132079] Chr6:129440824 [GRCh38]
Chr6:129761969 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.831G>A (p.Ser277=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153656]|LAMA2-related muscular dystrophy [RCV000812693] Chr6:129146970 [GRCh38]
Chr6:129468115 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5446-344T>C single nucleotide variant not provided [RCV000830961] Chr6:129400880 [GRCh38]
Chr6:129722025 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5563-296C>T single nucleotide variant not provided [RCV000830962] Chr6:129402028 [GRCh38]
Chr6:129723173 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8245-172G>T single nucleotide variant not provided [RCV000837224] Chr6:129502487 [GRCh38]
Chr6:129823632 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8245-167G>A single nucleotide variant not provided [RCV000837225] Chr6:129502492 [GRCh38]
Chr6:129823637 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8357+117T>C single nucleotide variant not provided [RCV000837226] Chr6:129502888 [GRCh38]
Chr6:129824033 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8358-76C>T single nucleotide variant not provided [RCV000837227] Chr6:129503015 [GRCh38]
Chr6:129824160 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8547+241T>C single nucleotide variant not provided [RCV000837228] Chr6:129503521 [GRCh38]
Chr6:129824666 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7725G>A (p.Arg2575=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001418396] Chr6:129481415 [GRCh38]
Chr6:129802560 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.3:c.1782+10C>T single nucleotide variant not provided [RCV000840942] Chr6:129514008 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7181del (p.Thr2394fs) deletion LAMA2-related muscular dystrophy [RCV000807823] Chr6:129465170 [GRCh38]
Chr6:129786315 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6573+317C>T single nucleotide variant not provided [RCV000844211] Chr6:129453448 [GRCh38]
Chr6:129774593 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6868-338T>C single nucleotide variant not provided [RCV000844212] Chr6:129459862 [GRCh38]
Chr6:129781007 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7521dup (p.Ile2508fs) duplication Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000789024] Chr6:129478761..129478762 [GRCh38]
Chr6:129799906..129799907 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4871C>T (p.Ser1624Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000791643] Chr6:129369902 [GRCh38]
Chr6:129691047 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7301-9C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000799717] Chr6:129473205 [GRCh38]
Chr6:129794350 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1885-206C>T single nucleotide variant not provided [RCV000837837] Chr6:129251878 [GRCh38]
Chr6:129573023 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5563-161C>T single nucleotide variant not provided [RCV000837838] Chr6:129402163 [GRCh38]
Chr6:129723308 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5726+39T>C single nucleotide variant not provided [RCV000837839] Chr6:129402526 [GRCh38]
Chr6:129723671 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6086-40C>G single nucleotide variant not provided [RCV000837840] Chr6:129440776 [GRCh38]
Chr6:129761921 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6268+193C>T single nucleotide variant not provided [RCV000837841] Chr6:129441191 [GRCh38]
Chr6:129762336 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5115T>C (p.Thr1705=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431900] Chr6:129391534 [GRCh38]
Chr6:129712679 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9096G>A (p.Lys3032=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000875940] Chr6:129514480 [GRCh38]
Chr6:129835625 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.409G>A (p.Ala137Thr) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152374]|LAMA2-related muscular dystrophy [RCV000796526]|Merosin deficient congenital muscular dystrophy [RCV000844997]|Merosin deficient congenital muscular dystrophy [RCV002495049]|not provided [RCV003133612] Chr6:129098185 [GRCh38]
Chr6:129419330 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance|not provided
NM_000426.4(LAMA2):c.951C>T (p.Ser317=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000876040] Chr6:129149020 [GRCh38]
Chr6:129470165 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7051G>A (p.Val2351Ile) single nucleotide variant Inborn genetic diseases [RCV003268121] Chr6:129464348 [GRCh38]
Chr6:129785493 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8298C>A (p.Phe2766Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000799966] Chr6:129502712 [GRCh38]
Chr6:129823857 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4965C>T (p.Thr1655=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000915802] Chr6:129383127 [GRCh38]
Chr6:129704272 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3155G>A (p.Ser1052Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV000800417] Chr6:129300853 [GRCh38]
Chr6:129621998 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1923G>C (p.Val641=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000874492] Chr6:129252122 [GRCh38]
Chr6:129573267 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6985A>G (p.Thr2329Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV000814116] Chr6:129460317 [GRCh38]
Chr6:129781462 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6752C>A (p.Pro2251His) single nucleotide variant LAMA2-related muscular dystrophy [RCV000820709]|Merosin deficient congenital muscular dystrophy [RCV001329266]|not provided [RCV003132103] Chr6:129456379 [GRCh38]
Chr6:129777524 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2832G>A (p.Gln944=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000876341] Chr6:129291696 [GRCh38]
Chr6:129612841 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+283A>G single nucleotide variant not provided [RCV000832581] Chr6:129271034 [GRCh38]
Chr6:129592179 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8581_8584dup (p.Tyr2862fs) duplication LAMA2-related muscular dystrophy [RCV000804437] Chr6:129505230..129505231 [GRCh38]
Chr6:129826375..129826376 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5050G>A (p.Glu1684Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV000804459]|Merosin deficient congenital muscular dystrophy [RCV002495092]|not provided [RCV001288668] Chr6:129383212 [GRCh38]
Chr6:129704357 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8689C>A (p.Arg2897=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000820932] Chr6:129505341 [GRCh38]
Chr6:129826486 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7563T>C (p.Cys2521=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436789] Chr6:129478804 [GRCh38]
Chr6:129799949 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3478C>A (p.Pro1160Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV000809689] Chr6:129314721 [GRCh38]
Chr6:129635866 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2451-189C>T single nucleotide variant not provided [RCV000827808] Chr6:129279872 [GRCh38]
Chr6:129601017 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-337C>G single nucleotide variant not provided [RCV000827883] Chr6:129478356 [GRCh38]
Chr6:129799501 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2513G>A (p.Gly838Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000817671] Chr6:129280123 [GRCh38]
Chr6:129601268 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.6469A>G (p.Thr2157Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001060220] Chr6:129453027 [GRCh38]
Chr6:129774172 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.519C>T (p.Asp173=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152375]|LAMA2-related muscular dystrophy [RCV001461816] Chr6:129098295 [GRCh38]
Chr6:129419440 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3203T>C (p.Leu1068Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152572]|LAMA2-related muscular dystrophy [RCV001245805]|not provided [RCV003480974] Chr6:129312889 [GRCh38]
Chr6:129634034 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1240T>C (p.Cys414Arg) single nucleotide variant not provided [RCV000998680] Chr6:129165609 [GRCh38]
Chr6:129486754 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5627A>T (p.Asp1876Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001056409]|not provided [RCV003490041] Chr6:129402388 [GRCh38]
Chr6:129723533 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1652G>A (p.Arg551His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152468] Chr6:129192723 [GRCh38]
Chr6:129513868 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4257A>G (p.Pro1419=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000937145] Chr6:129328358 [GRCh38]
Chr6:129649503 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV000987773] Chr6:129369967 [GRCh38]
Chr6:129691112 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4959+1del deletion Merosin deficient congenital muscular dystrophy [RCV000850230] Chr6:129369989 [GRCh38]
Chr6:129691134 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5940A>G (p.Glu1980=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487194] Chr6:129427826 [GRCh38]
Chr6:129748971 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001053761] Chr6:128883359 [GRCh38]
Chr6:129204504 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8020_8023dup (p.Arg2675fs) duplication LAMA2-related muscular dystrophy [RCV001054803] Chr6:129492019..129492020 [GRCh38]
Chr6:129813164..129813165 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5415A>G (p.Ala1805=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001210809] Chr6:129393225 [GRCh38]
Chr6:129714370 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8399G>T (p.Gly2800Val) single nucleotide variant Inborn genetic diseases [RCV003263893]|LAMA2-related muscular dystrophy [RCV001245662] Chr6:129503132 [GRCh38]
Chr6:129824277 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs) deletion Merosin deficient congenital muscular dystrophy [RCV000987770] Chr6:129313015 [GRCh38]
Chr6:129634160 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8127del (p.Cys2710fs) deletion LAMA2-related muscular dystrophy [RCV001059087] Chr6:129492366 [GRCh38]
Chr6:129813511 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6277G>A (p.Ala2093Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001060973]|not provided [RCV003130141] Chr6:129445669 [GRCh38]
Chr6:129766814 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8918C>A (p.Thr2973Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001248412]|not provided [RCV001509291] Chr6:129512423 [GRCh38]
Chr6:129833568 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3694C>A (p.Pro1232Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240086] Chr6:129315614 [GRCh38]
Chr6:129636759 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3769A>G (p.Ile1257Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001226718] Chr6:129315795 [GRCh38]
Chr6:129636940 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2097-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001220236] Chr6:129260707 [GRCh38]
Chr6:129581852 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5834C>A (p.Ala1945Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240412] Chr6:129403928 [GRCh38]
Chr6:129725073 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6027T>G (p.Asn2009Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001242014] Chr6:129438704 [GRCh38]
Chr6:129759849 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7817T>C (p.Met2606Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001225810] Chr6:129486541 [GRCh38]
Chr6:129807686 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5562+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001243340] Chr6:129401345 [GRCh38]
Chr6:129722490 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7952T>C (p.Val2651Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001216136]|not provided [RCV003130190] Chr6:129491954 [GRCh38]
Chr6:129813099 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4685A>G (p.His1562Arg) single nucleotide variant Inborn genetic diseases [RCV003353219]|LAMA2-related muscular dystrophy [RCV001222691]|not provided [RCV003163723] Chr6:129353325 [GRCh38]
Chr6:129674470 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6187G>A (p.Asp2063Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001238981] Chr6:129440917 [GRCh38]
Chr6:129762062 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6647G>A (p.Arg2216His) single nucleotide variant Inborn genetic diseases [RCV002563932]|LAMA2-related muscular dystrophy [RCV001238985]|not provided [RCV003130212] Chr6:129454228 [GRCh38]
Chr6:129775373 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3844A>C (p.Thr1282Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240746] Chr6:129315870 [GRCh38]
Chr6:129637015 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3616A>G (p.Thr1206Ala) single nucleotide variant Inborn genetic diseases [RCV002568554]|LAMA2-related muscular dystrophy [RCV001242640] Chr6:129315536 [GRCh38]
Chr6:129636681 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5507A>G (p.Asn1836Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001242714] Chr6:129401285 [GRCh38]
Chr6:129722430 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8366T>C (p.Ile2789Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001233585] Chr6:129503099 [GRCh38]
Chr6:129824244 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8000C>T (p.Pro2667Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001214106] Chr6:129492002 [GRCh38]
Chr6:129813147 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7827_7848del (p.Val2610fs) deletion LAMA2-related muscular dystrophy [RCV001222515] Chr6:129486548..129486569 [GRCh38]
Chr6:129807693..129807714 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5445+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001222492]|Merosin deficient congenital muscular dystrophy [RCV003469383] Chr6:129393256 [GRCh38]
Chr6:129714401 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4049G>A (p.Arg1350Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240943] Chr6:129316162 [GRCh38]
Chr6:129637307 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2323-1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001223090]|Merosin deficient congenital muscular dystrophy [RCV003469386] Chr6:129270623 [GRCh38]
Chr6:129591768 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1277G>T (p.Cys426Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001209661] Chr6:129165646 [GRCh38]
Chr6:129486791 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9302T>C (p.Leu3101Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001237670] Chr6:129516280 [GRCh38]
Chr6:129837425 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.820-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001237683]|Merosin deficient congenital muscular dystrophy [RCV003469444] Chr6:129146958 [GRCh38]
Chr6:129468103 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2429C>T (p.Pro810Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001241214]|not provided [RCV003132331] Chr6:129270730 [GRCh38]
Chr6:129591875 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4696C>T (p.Arg1566Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001243114]|not provided [RCV003132338] Chr6:129353336 [GRCh38]
Chr6:129674481 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2043delinsCT (p.Leu681fs) indel LAMA2-related muscular dystrophy [RCV001240140] Chr6:129252242 [GRCh38]
Chr6:129573387 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4436_4436+35del deletion LAMA2-related muscular dystrophy [RCV001223789] Chr6:129342465..129342500 [GRCh38]
Chr6:129663610..129663645 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4768G>A (p.Glu1590Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001243185]|not provided [RCV003130222] Chr6:129366269 [GRCh38]
Chr6:129687414 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2586T>A (p.Cys862Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001207012] Chr6:129287895 [GRCh38]
Chr6:129609040 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8641G>A (p.Val2881Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001223936] Chr6:129505293 [GRCh38]
Chr6:129826438 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1513T>C (p.Phe505Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001209959] Chr6:129190250 [GRCh38]
Chr6:129511395 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9103C>T (p.His3035Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001243444] Chr6:129514487 [GRCh38]
Chr6:129835632 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6061G>C (p.Gly2021Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001211109] Chr6:129438738 [GRCh38]
Chr6:129759883 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4067A>G (p.Glu1356Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001228675] Chr6:129320546 [GRCh38]
Chr6:129641691 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2132A>G (p.Tyr711Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001246076]|not provided [RCV002261325] Chr6:129260746 [GRCh38]
Chr6:129581891 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.307A>G (p.Ile103Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001240729]|Merosin deficient congenital muscular dystrophy [RCV002491797] Chr6:129059807 [GRCh38]
Chr6:129380952 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7155+6G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001224434] Chr6:129464458 [GRCh38]
Chr6:129785603 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2321T>C (p.Leu774Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001210239] Chr6:129267218 [GRCh38]
Chr6:129588363 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2159C>T (p.Ala720Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001225509] Chr6:129260773 [GRCh38]
Chr6:129581918 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4945G>A (p.Glu1649Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001242140]|not provided [RCV003132335] Chr6:129369976 [GRCh38]
Chr6:129691121 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7525C>T (p.Leu2509Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001242206]|not provided [RCV003130219] Chr6:129478766 [GRCh38]
Chr6:129799911 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9222del (p.Lys3074fs) deletion LAMA2-related muscular dystrophy [RCV001210716] Chr6:129516200 [GRCh38]
Chr6:129837345 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7377dup (p.Leu2460fs) duplication LAMA2-related muscular dystrophy [RCV001232711]|Merosin deficient congenital muscular dystrophy [RCV002497794]|Merosin deficient congenital muscular dystrophy [RCV003469420] Chr6:129473289..129473290 [GRCh38]
Chr6:129794434..129794435 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3928G>T (p.Glu1310Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001219254] Chr6:129316041 [GRCh38]
Chr6:129637186 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4962del (p.Thr1655fs) deletion LAMA2-related muscular dystrophy [RCV001219255] Chr6:129383124 [GRCh38]
Chr6:129704269 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6268+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001229482] Chr6:129440999 [GRCh38]
Chr6:129762144 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7876G>A (p.Val2626Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001205657]|not provided [RCV003132266] Chr6:129486600 [GRCh38]
Chr6:129807745 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7750-2A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003461293]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV000850248] Chr6:129486472 [GRCh38]
Chr6:129807617 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3758T>G (p.Leu1253Arg) single nucleotide variant not specified [RCV003317742] Chr6:129315784 [GRCh38]
Chr6:129636929 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs) duplication LAMA2-related muscular dystrophy [RCV001858677]|Merosin deficient congenital muscular dystrophy [RCV000987772]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003141908] Chr6:129366238..129366239 [GRCh38]
Chr6:129687383..129687384 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1319G>A (p.Gly440Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156261]|LAMA2-related muscular dystrophy [RCV002032440] Chr6:129177718 [GRCh38]
Chr6:129498863 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6554A>G (p.Tyr2185Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001211226] Chr6:129453112 [GRCh38]
Chr6:129774257 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3338C>T (p.Thr1113Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153850] Chr6:129313024 [GRCh38]
Chr6:129634169 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5833G>C (p.Ala1945Pro) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154068]|LAMA2-related muscular dystrophy [RCV002032420] Chr6:129403927 [GRCh38]
Chr6:129725072 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9107G>A (p.Arg3036His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154392]|LAMA2-related muscular dystrophy [RCV002559486] Chr6:129514491 [GRCh38]
Chr6:129835636 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9332T>C (p.Leu3111Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001201844] Chr6:129516310 [GRCh38]
Chr6:129837455 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2710G>A (p.Gly904Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158043] Chr6:129288019 [GRCh38]
Chr6:129609164 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3068G>T (p.Cys1023Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001249382] Chr6:129300766 [GRCh38]
Chr6:129621911 [GRCh37]
Chr6:6q22.33		 uncertain significance|not provided
NM_000426.4(LAMA2):c.13G>T (p.Ala5Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002554817]|not provided [RCV001090686] Chr6:128883258 [GRCh38]
Chr6:129204403 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4714_4715del (p.Val1572fs) microsatellite LAMA2-related muscular dystrophy [RCV001212559] Chr6:129353350..129353351 [GRCh38]
Chr6:129674495..129674496 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6070T>G (p.Ser2024Ala) single nucleotide variant not provided [RCV003231959] Chr6:129438747 [GRCh38]
Chr6:129759892 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3225T>C (p.Asn1075=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003106327] Chr6:129312911 [GRCh38]
Chr6:129634056 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5426A>C (p.Lys1809Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003106422] Chr6:129393236 [GRCh38]
Chr6:129714381 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4446del (p.Ser1483fs) deletion Merosin deficient congenital muscular dystrophy [RCV003234957] Chr6:129349304 [GRCh38]
Chr6:129670449 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8060T>C (p.Leu2687Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV003105198] Chr6:129492062 [GRCh38]
Chr6:129813207 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.113-166A>T single nucleotide variant not provided [RCV001576111] Chr6:129049752 [GRCh38]
Chr6:129370897 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4717+106del deletion not provided [RCV001576174] Chr6:129353449 [GRCh38]
Chr6:129674594 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2209-322A>G single nucleotide variant not provided [RCV001544964] Chr6:129266784 [GRCh38]
Chr6:129587929 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-64G>T single nucleotide variant not provided [RCV001572000] Chr6:129297621 [GRCh38]
Chr6:129618766 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3555+171A>G single nucleotide variant not provided [RCV001572503] Chr6:129314969 [GRCh38]
Chr6:129636114 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.12:g.128882802G>A single nucleotide variant not provided [RCV001572527] Chr6:128882802 [GRCh38]
Chr6:129203947 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+33C>T single nucleotide variant not provided [RCV001576861] Chr6:129315983 [GRCh38]
Chr6:129637128 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+56A>T single nucleotide variant not provided [RCV001577426] Chr6:129460380 [GRCh38]
Chr6:129781525 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+240A>C single nucleotide variant not provided [RCV001570003] Chr6:129144320 [GRCh38]
Chr6:129465465 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2538-252A>T single nucleotide variant not provided [RCV001566605] Chr6:129287595 [GRCh38]
Chr6:129608740 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-255A>G single nucleotide variant not provided [RCV001567337] Chr6:129192425 [GRCh38]
Chr6:129513570 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+133ATT[5] microsatellite not provided [RCV001559914] Chr6:129144213..129144218 [GRCh38]
Chr6:129465358..129465363 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2097-270A>G single nucleotide variant not provided [RCV001559918] Chr6:129260441 [GRCh38]
Chr6:129581586 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-194A>C single nucleotide variant not provided [RCV001590717] Chr6:129403627 [GRCh38]
Chr6:129724772 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+211G>A single nucleotide variant not provided [RCV001635804] Chr6:129190556 [GRCh38]
Chr6:129511701 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.639+169A>C single nucleotide variant not provided [RCV001549849] Chr6:129098584 [GRCh38]
Chr6:129419729 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6574-250T>A single nucleotide variant not provided [RCV001720971] Chr6:129453905 [GRCh38]
Chr6:129775050 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5968+28T>A single nucleotide variant not provided [RCV001591484] Chr6:129427882 [GRCh38]
Chr6:129749027 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-25G>A single nucleotide variant LAMA2-related condition [RCV003910930]|not provided [RCV001598581] Chr6:129312836 [GRCh38]
Chr6:129633981 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.5727-73C>T single nucleotide variant not provided [RCV001569138] Chr6:129403748 [GRCh38]
Chr6:129724893 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6274+241C>T single nucleotide variant not provided [RCV001561841] Chr6:129443309 [GRCh38]
Chr6:129764454 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-55G>A single nucleotide variant not provided [RCV001593711] Chr6:129190150 [GRCh38]
Chr6:129511295 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-248G>A single nucleotide variant not provided [RCV001639480] Chr6:129459952 [GRCh38]
Chr6:129781097 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4524-268ATT[8] microsatellite not provided [RCV001709780] Chr6:129352895..129352896 [GRCh38]
Chr6:129674040..129674041 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5235-273A>G single nucleotide variant not provided [RCV001562679] Chr6:129392772 [GRCh38]
Chr6:129713917 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.910-105A>G single nucleotide variant not provided [RCV001594241] Chr6:129148874 [GRCh38]
Chr6:129470019 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-167TCTT[3] microsatellite not provided [RCV001639893] Chr6:129516022..129516023 [GRCh38]
Chr6:129837167..129837168 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4717+61del deletion not provided [RCV001649022] Chr6:129353417 [GRCh38]
Chr6:129674562 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2322+136C>A single nucleotide variant not provided [RCV001590269] Chr6:129267355 [GRCh38]
Chr6:129588500 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7525_7528dup (p.Ser2510fs) duplication Primary dilated cardiomyopathy [RCV001594454] Chr6:129478764..129478765 [GRCh38]
Chr6:129799909..129799910 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.9192_9193del (p.Phe3065fs) microsatellite LAMA2-related muscular dystrophy [RCV001865999]|not provided [RCV001565522] Chr6:129514573..129514574 [GRCh38]
Chr6:129835718..129835719 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6085+312_6085+313dup duplication not provided [RCV001676501] Chr6:129439066..129439067 [GRCh38]
Chr6:129760211..129760212 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3037+225_3037+226insTTTT insertion not provided [RCV001719310] Chr6:129298090..129298091 [GRCh38]
Chr6:129619235..129619236 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7749+80C>T single nucleotide variant not provided [RCV001578149] Chr6:129481519 [GRCh38]
Chr6:129802664 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-308A>C single nucleotide variant not provided [RCV001530887] Chr6:129314347 [GRCh38]
Chr6:129635492 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.909+232_909+233dup duplication not provided [RCV001673489] Chr6:129147264..129147265 [GRCh38]
Chr6:129468409..129468410 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.9211+25A>C single nucleotide variant not provided [RCV001552428] Chr6:129514620 [GRCh38]
Chr6:129835765 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7898+94G>A single nucleotide variant not provided [RCV001552654] Chr6:129486716 [GRCh38]
Chr6:129807861 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-86G>A single nucleotide variant not provided [RCV001559826] Chr6:129251998 [GRCh38]
Chr6:129573143 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5072-250_5072-249del deletion not provided [RCV001617152] Chr6:129391240..129391241 [GRCh38]
Chr6:129712385..129712386 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7437G>C (p.Leu2479Phe) single nucleotide variant not provided [RCV001583302] Chr6:129473350 [GRCh38]
Chr6:129794495 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3777C>T (p.Phe1259=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001418940] Chr6:129315803 [GRCh38]
Chr6:129636948 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8763T>C (p.Asp2921=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436394]|not provided [RCV000944392] Chr6:129507548 [GRCh38]
Chr6:129828693 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.15C>A (p.Ala5=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003574812] Chr6:128883260 [GRCh38]
Chr6:129204405 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3789A>G (p.Glu1263=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000977967] Chr6:129315815 [GRCh38]
Chr6:129636960 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4772A>G (p.Gln1591Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153955]|LAMA2-related muscular dystrophy [RCV000952099] Chr6:129366273 [GRCh38]
Chr6:129687418 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.4365C>T (p.Tyr1455=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001858567] Chr6:129342396 [GRCh38]
Chr6:129663541 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1737G>A (p.Pro579=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001475040] Chr6:129192808 [GRCh38]
Chr6:129513953 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3366T>G (p.Thr1122=) single nucleotide variant not provided [RCV000952124] Chr6:129313052 [GRCh38]
Chr6:129634197 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6138C>T (p.Asp2046=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001413526] Chr6:129440868 [GRCh38]
Chr6:129762013 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+7G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001488977] Chr6:129280154 [GRCh38]
Chr6:129601299 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1028-4G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV000878398] Chr6:129154501 [GRCh38]
Chr6:129475646 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3702T>C (p.Tyr1234=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001418931] Chr6:129315622 [GRCh38]
Chr6:129636767 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9156C>T (p.Asn3052=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001484296] Chr6:129514540 [GRCh38]
Chr6:129835685 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3665A>G (p.Asp1222Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002067560]|not provided [RCV000983842] Chr6:129315585 [GRCh38]
Chr6:129636730 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.2857-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000944742] Chr6:129297675 [GRCh38]
Chr6:129618820 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.820-6_820-5del deletion LAMA2-related muscular dystrophy [RCV001423910] Chr6:129146950..129146951 [GRCh38]
Chr6:129468095..129468096 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5074G>C (p.Val1692Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV000886596]|not provided [RCV002225762] Chr6:129391493 [GRCh38]
Chr6:129712638 [GRCh37]
Chr6:6q22.33		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000426.4(LAMA2):c.7440-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000960712] Chr6:129475380 [GRCh38]
Chr6:129796525 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5106T>C (p.Thr1702=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000878713] Chr6:129391525 [GRCh38]
Chr6:129712670 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7464T>C (p.Asn2488=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001455586] Chr6:129478705 [GRCh38]
Chr6:129799850 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1728A>G (p.Gln576=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000952322] Chr6:129192799 [GRCh38]
Chr6:129513944 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7230C>T (p.Ser2410=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000908520] Chr6:129465219 [GRCh38]
Chr6:129786364 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3594A>G (p.Val1198=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000954569] Chr6:129315514 [GRCh38]
Chr6:129636659 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1989T>C (p.His663=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451687] Chr6:129252188 [GRCh38]
Chr6:129573333 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5140T>C (p.Leu1714=) single nucleotide variant LAMA2-related condition [RCV003935792]|LAMA2-related muscular dystrophy [RCV000952447]|not provided [RCV003886458] Chr6:129391559 [GRCh38]
Chr6:129712704 [GRCh37]
Chr6:6q22.33		 benign|likely benign
NM_000426.4(LAMA2):c.567G>T (p.Pro189=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000907299] Chr6:129098343 [GRCh38]
Chr6:129419488 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7899-10A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000978688] Chr6:129491891 [GRCh38]
Chr6:129813036 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6618C>T (p.Phe2206=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000920103] Chr6:129454199 [GRCh38]
Chr6:129775344 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2877A>G (p.Gln959=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000888362] Chr6:129297705 [GRCh38]
Chr6:129618850 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001403298] Chr6:129402315 [GRCh38]
Chr6:129723460 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6804C>T (p.Tyr2268=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000959434] Chr6:129456431 [GRCh38]
Chr6:129777576 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3384T>C (p.Ser1128=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000939193] Chr6:129313070 [GRCh38]
Chr6:129634215 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7758T>C (p.Tyr2586=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001505038] Chr6:129486482 [GRCh38]
Chr6:129807627 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2760T>C (p.Cys920=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001503302] Chr6:129291624 [GRCh38]
Chr6:129612769 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8721T>C (p.Asp2907=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000875332] Chr6:129507506 [GRCh38]
Chr6:129828651 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6144T>C (p.Ala2048=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001430990] Chr6:129440874 [GRCh38]
Chr6:129762019 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1206+8A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000945974] Chr6:129154691 [GRCh38]
Chr6:129475836 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.234G>C (p.Val78=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001473356] Chr6:129050039 [GRCh38]
Chr6:129371184 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9060G>A (p.Leu3020=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000873642]|not provided [RCV001289024] Chr6:129514444 [GRCh38]
Chr6:129835589 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2488T>C (p.Leu830=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000932024] Chr6:129280098 [GRCh38]
Chr6:129601243 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8610C>T (p.Thr2870=) single nucleotide variant LAMA2-related condition [RCV003908267]|LAMA2-related muscular dystrophy [RCV000870815] Chr6:129505262 [GRCh38]
Chr6:129826407 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1248C>T (p.Cys416=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000946077] Chr6:129165617 [GRCh38]
Chr6:129486762 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8385C>T (p.Thr2795=) single nucleotide variant LAMA2-related condition [RCV003970611]|LAMA2-related muscular dystrophy [RCV000938373] Chr6:129503118 [GRCh38]
Chr6:129824263 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6381C>A (p.Ile2127=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001401084] Chr6:129445773 [GRCh38]
Chr6:129766918 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3153C>T (p.His1051=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000952618]|not provided [RCV003489980] Chr6:129300851 [GRCh38]
Chr6:129621996 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3038-8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV000959828] Chr6:129300728 [GRCh38]
Chr6:129621873 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1755C>T (p.Ser585=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001408159]|Merosin deficient congenital muscular dystrophy [RCV001333434] Chr6:129192826 [GRCh38]
Chr6:129513971 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2121C>T (p.Ser707=) single nucleotide variant LAMA2-related condition [RCV003920463]|LAMA2-related muscular dystrophy [RCV001086783]|not provided [RCV000877662] Chr6:129260735 [GRCh38]
Chr6:129581880 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6519C>T (p.Asn2173=) single nucleotide variant LAMA2-related muscular dystrophy [RCV000922087] Chr6:129453077 [GRCh38]
Chr6:129774222 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7473_7475dup (p.Tyr2492Ter) duplication LAMA2-related muscular dystrophy [RCV001244284] Chr6:129478712..129478713 [GRCh38]
Chr6:129799857..129799858 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7121G>A (p.Ser2374Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001244493] Chr6:129464418 [GRCh38]
Chr6:129785563 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1589C>G (p.Ser530Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001207564]|not provided [RCV003130182] Chr6:129190326 [GRCh38]
Chr6:129511471 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6086-2A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001235926] Chr6:129440814 [GRCh38]
Chr6:129761959 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7440-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001226470] Chr6:129475389 [GRCh38]
Chr6:129796534 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2511C>A (p.Val837=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001244567] Chr6:129280121 [GRCh38]
Chr6:129601266 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4861-10T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001244647] Chr6:129369882 [GRCh38]
Chr6:129691027 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4495C>T (p.Arg1499Trp) single nucleotide variant LAMA2-related condition [RCV003405434]|LAMA2-related muscular dystrophy [RCV001239248] Chr6:129349356 [GRCh38]
Chr6:129670501 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2325C>A (p.Asn775Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001205656]|not provided [RCV000992261] Chr6:129270626 [GRCh38]
Chr6:129591771 [GRCh37]
Chr6:6q22.33		 conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.6518A>G (p.Asn2173Ser) single nucleotide variant Inborn genetic diseases [RCV002564050]|LAMA2-related muscular dystrophy [RCV001242978] Chr6:129453076 [GRCh38]
Chr6:129774221 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7985T>C (p.Val2662Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154296]|LAMA2-related muscular dystrophy [RCV002558336]|not provided [RCV001509289] Chr6:129491987 [GRCh38]
Chr6:129813132 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2609A>G (p.Asn870Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001244980]|Merosin deficient congenital muscular dystrophy [RCV002484361] Chr6:129287918 [GRCh38]
Chr6:129609063 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5512A>G (p.Ile1838Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001214591] Chr6:129401290 [GRCh38]
Chr6:129722435 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1782+3A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001214645] Chr6:129192856 [GRCh38]
Chr6:129514001 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1535G>A (p.Trp512Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001208411] Chr6:129190272 [GRCh38]
Chr6:129511417 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4995A>C (p.Gly1665=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154809] Chr6:129383157 [GRCh38]
Chr6:129704302 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5288G>A (p.Gly1763Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154812] Chr6:129393098 [GRCh38]
Chr6:129714243 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8443A>G (p.Thr2815Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155134]|LAMA2-related muscular dystrophy [RCV001247585]|not provided [RCV003132241] Chr6:129503176 [GRCh38]
Chr6:129824321 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9361G>A (p.Ala3121Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001070743] Chr6:129516339 [GRCh38]
Chr6:129837484 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8052A>G (p.Ile2684Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001070858] Chr6:129492054 [GRCh38]
Chr6:129813199 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3706A>G (p.Lys1236Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001223649] Chr6:129315626 [GRCh38]
Chr6:129636771 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1606A>G (p.Lys536Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001071682] Chr6:129190343 [GRCh38]
Chr6:129511488 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5377G>A (p.Ala1793Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001245522]|Rare genetic intellectual disability [RCV001257032] Chr6:129393187 [GRCh38]
Chr6:129714332 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4592C>G (p.Pro1531Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152677]|LAMA2-related muscular dystrophy [RCV002559473]|not provided [RCV002264204] Chr6:129353232 [GRCh38]
Chr6:129674377 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2358T>A (p.Asp786Glu) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156367]|LAMA2-related muscular dystrophy [RCV001338319] Chr6:129270659 [GRCh38]
Chr6:129591804 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-12A>C single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156579]|LAMA2-related muscular dystrophy [RCV002070927] Chr6:129443051 [GRCh38]
Chr6:129764196 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6671T>C (p.Ile2224Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001873589]|not provided [RCV001172177] Chr6:129454252 [GRCh38]
Chr6:129775397 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3035C>T (p.Thr1012Ile) single nucleotide variant Inborn genetic diseases [RCV002568537]|LAMA2-related muscular dystrophy [RCV001240942] Chr6:129297863 [GRCh38]
Chr6:129619008 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5624A>G (p.Asp1875Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001224543] Chr6:129402385 [GRCh38]
Chr6:129723530 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8976G>T (p.Met2992Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001224620] Chr6:129512481 [GRCh38]
Chr6:129833626 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5969-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001224840] Chr6:129438645 [GRCh38]
Chr6:129759790 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4349G>C (p.Arg1450Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001224901] Chr6:129342380 [GRCh38]
Chr6:129663525 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5984T>C (p.Leu1995Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001241319]|not provided [RCV001571170] Chr6:129438661 [GRCh38]
Chr6:129759806 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9262A>G (p.Ile3088Val) single nucleotide variant Inborn genetic diseases [RCV002564072]|LAMA2-related muscular dystrophy [RCV001243710]|not provided [RCV003130223] Chr6:129516240 [GRCh38]
Chr6:129837385 [GRCh37]
Chr6:6q22.33		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000426.4(LAMA2):c.4624G>C (p.Val1542Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001241685] Chr6:129353264 [GRCh38]
Chr6:129674409 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1697A>G (p.Gln566Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001059659]|not provided [RCV003132192] Chr6:129192768 [GRCh38]
Chr6:129513913 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2639A>G (p.Asp880Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001060268]|not provided [RCV003425904] Chr6:129287948 [GRCh38]
Chr6:129609093 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6635C>G (p.Ser2212Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152901]|LAMA2-related muscular dystrophy [RCV003574848]|not provided [RCV003130168] Chr6:129454216 [GRCh38]
Chr6:129775361 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5582del (p.Thr1861fs) deletion LAMA2-related muscular dystrophy [RCV001218283] Chr6:129402343 [GRCh38]
Chr6:129723488 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9052G>C (p.Gly3018Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001244184] Chr6:129514436 [GRCh38]
Chr6:129835581 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.909+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV000935997] Chr6:129147055 [GRCh38]
Chr6:129468200 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3519C>T (p.Thr1173=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001417088] Chr6:129314762 [GRCh38]
Chr6:129635907 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2059C>G (p.Gln687Glu) single nucleotide variant not provided [RCV000998681] Chr6:129252258 [GRCh38]
Chr6:129573403 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2111A>G (p.Asn704Ser) single nucleotide variant not provided [RCV000998682] Chr6:129260725 [GRCh38]
Chr6:129581870 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5195dup (p.Asn1732fs) duplication LAMA2-related muscular dystrophy [RCV001869408]|not provided [RCV000998684] Chr6:129391609..129391610 [GRCh38]
Chr6:129712754..129712755 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1611A>T (p.Ile537=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001409117] Chr6:129192682 [GRCh38]
Chr6:129513827 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2619C>T (p.Phe873=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001492633] Chr6:129287928 [GRCh38]
Chr6:129609073 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6977A>G (p.Lys2326Arg) single nucleotide variant not provided [RCV001577228] Chr6:129460309 [GRCh38]
Chr6:129781454 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7749+117G>A single nucleotide variant not provided [RCV001565008] Chr6:129481556 [GRCh38]
Chr6:129802701 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1255del (p.Ile419fs) deletion LAMA2-related muscular dystrophy [RCV001065129]|Merosin deficient congenital muscular dystrophy [RCV000987768]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001813808] Chr6:129165623 [GRCh38]
Chr6:129486768 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3412-201T>G single nucleotide variant not provided [RCV001575178] Chr6:129314454 [GRCh38]
Chr6:129635599 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-72G>T single nucleotide variant not provided [RCV001557994] Chr6:129401152 [GRCh38]
Chr6:129722297 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q22.31-22.33(chr6:120059951-130033233)x1 copy number loss not provided [RCV002472894] Chr6:120059951..130033233 [GRCh37]
Chr6:6q22.31-22.33		 uncertain significance
NM_000426.4:c.(6992+1_6993-1)_(7300+1_7301-1)del deletion Merosin deficient congenital muscular dystrophy [RCV002464046]   pathogenic
NM_000426.4(LAMA2):c.5726+264A>G single nucleotide variant not provided [RCV001613450] Chr6:129402751 [GRCh38]
Chr6:129723896 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4437-157C>T single nucleotide variant not provided [RCV001575843] Chr6:129349141 [GRCh38]
Chr6:129670286 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1307-284A>G single nucleotide variant not provided [RCV001560892] Chr6:129177422 [GRCh38]
Chr6:129498567 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-323A>T single nucleotide variant not provided [RCV001546709] Chr6:129514050 [GRCh38]
Chr6:129835195 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+278G>A single nucleotide variant not provided [RCV001561225] Chr6:129512771 [GRCh38]
Chr6:129833916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1207-64C>A single nucleotide variant not provided [RCV001547276] Chr6:129165512 [GRCh38]
Chr6:129486657 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4717+290A>G single nucleotide variant not provided [RCV001567002] Chr6:129353647 [GRCh38]
Chr6:129674792 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1743C>A (p.Ser581Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003106704] Chr6:129192814 [GRCh38]
Chr6:129513959 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4280del (p.Ser1427fs) deletion LAMA2-related muscular dystrophy [RCV001044037]|Merosin deficient congenital muscular dystrophy [RCV002481815]|Merosin deficient congenital muscular dystrophy [RCV003467585]|not provided [RCV001008786] Chr6:129328381 [GRCh38]
Chr6:129649526 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2009G>A (p.Arg670His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001056882]|not provided [RCV001507678] Chr6:129252208 [GRCh38]
Chr6:129573353 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7537G>A (p.Asp2513Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001055043]|not provided [RCV003130132] Chr6:129478778 [GRCh38]
Chr6:129799923 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5235-70T>C single nucleotide variant not provided [RCV001720397] Chr6:129392975 [GRCh38]
Chr6:129714120 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5563-97dup duplication not provided [RCV001608313] Chr6:129402208..129402209 [GRCh38]
Chr6:129723353..129723354 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1467+138_1467+139insTATAAATGTCTTTAAATGCCC insertion not provided [RCV001695997] Chr6:129178001..129178002 [GRCh38]
Chr6:129499146..129499147 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5563-101_5563-97dup duplication not provided [RCV001687573] Chr6:129402208..129402209 [GRCh38]
Chr6:129723353..129723354 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6574-197del deletion not provided [RCV001619050] Chr6:129453946 [GRCh38]
Chr6:129775091 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6085+313dup duplication not provided [RCV001637168] Chr6:129439066..129439067 [GRCh38]
Chr6:129760211..129760212 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7024C>T (p.Gln2342Ter) single nucleotide variant not provided [RCV001008706] Chr6:129464321 [GRCh38]
Chr6:129785466 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4058+75A>G single nucleotide variant not provided [RCV001590379] Chr6:129316246 [GRCh38]
Chr6:129637391 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7231G>A (p.Val2411Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155018]|LAMA2-related muscular dystrophy [RCV001242334]|Merosin deficient congenital muscular dystrophy [RCV001329267]|not provided [RCV001509286] Chr6:129465220 [GRCh38]
Chr6:129786365 [GRCh37]
Chr6:6q22.33		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 6q22.33(chr6:129281300-129504433)x1 copy number loss not provided [RCV001005847] Chr6:129281300..129504433 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33(chr6:128808063-129473811)x1 copy number loss not provided [RCV001005846] Chr6:128808063..129473811 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5446-8G>T single nucleotide variant Intellectual disability [RCV001252043]|LAMA2-related muscular dystrophy [RCV001395075] Chr6:129401216 [GRCh38]
Chr6:129722361 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8116G>A (p.Asp2706Asn) single nucleotide variant Intellectual disability [RCV001252044] Chr6:129492355 [GRCh38]
Chr6:129813500 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.62A>G (p.Gln21Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156177] Chr6:128883307 [GRCh38]
Chr6:129204452 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4607C>T (p.Pro1536Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV001093561] Chr6:129353247 [GRCh38]
Chr6:129674392 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.8689C>T (p.Arg2897Ter) single nucleotide variant Abnormality of the musculature [RCV001814272]|LAMA2-related muscular dystrophy [RCV002554828]|not provided [RCV001091212] Chr6:129505341 [GRCh38]
Chr6:129826486 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2527C>A (p.Arg843Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156370] Chr6:129280137 [GRCh38]
Chr6:129601282 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4258T>C (p.Cys1420Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158146]|LAMA2-related muscular dystrophy [RCV002559520]|not provided [RCV003132243] Chr6:129328359 [GRCh38]
Chr6:129649504 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5380A>G (p.Thr1794Ala) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158268]|LAMA2-related muscular dystrophy [RCV001234885] Chr6:129393190 [GRCh38]
Chr6:129714335 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5461G>A (p.Val1821Ile) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158269]|LAMA2-related muscular dystrophy [RCV002557353] Chr6:129401239 [GRCh38]
Chr6:129722384 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1615G>C (p.Asp539His) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157935]|LAMA2-related muscular dystrophy [RCV002558389] Chr6:129192686 [GRCh38]
Chr6:129513831 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2545G>A (p.Glu849Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158042] Chr6:129287854 [GRCh38]
Chr6:129608999 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4235C>A (p.Pro1412Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001158145] Chr6:129328336 [GRCh38]
Chr6:129649481 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5968+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001053928] Chr6:129427855 [GRCh38]
Chr6:129749000 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5562+3G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001061547] Chr6:129401343 [GRCh38]
Chr6:129722488 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1757C>T (p.Ala586Val) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152469]|LAMA2-related muscular dystrophy [RCV002032406] Chr6:129192828 [GRCh38]
Chr6:129513973 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6691C>A (p.Arg2231Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152902] Chr6:129454272 [GRCh38]
Chr6:129775417 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6183C>A (p.Asn2061Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154911]|LAMA2-related muscular dystrophy [RCV001344270]|not provided [RCV003132240] Chr6:129440913 [GRCh38]
Chr6:129762058 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2036C>G (p.Ala679Gly) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153745]|not provided [RCV003490090] Chr6:129252235 [GRCh38]
Chr6:129573380 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8205C>T (p.Pro2735=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154298]|LAMA2-related muscular dystrophy [RCV001486306] Chr6:129492444 [GRCh38]
Chr6:129813589 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9171A>C (p.Ser3057=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154394]|LAMA2-related muscular dystrophy [RCV001447446] Chr6:129514555 [GRCh38]
Chr6:129835700 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6280G>C (p.Asp2094His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001060899] Chr6:129445672 [GRCh38]
Chr6:129766817 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3508G>A (p.Gly1170Ser) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153852]|Merosin deficient congenital muscular dystrophy [RCV001333437] Chr6:129314751 [GRCh38]
Chr6:129635896 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3333T>A (p.Pro1111=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001153849] Chr6:129313019 [GRCh38]
Chr6:129634164 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6006A>G (p.Ile2002Met) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154069]|LAMA2-related muscular dystrophy [RCV001228820] Chr6:129438683 [GRCh38]
Chr6:129759828 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5722G>A (p.Asp1908Asn) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154066] Chr6:129402483 [GRCh38]
Chr6:129723628 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2323-201T>C single nucleotide variant not provided [RCV001725699] Chr6:129270423 [GRCh38]
Chr6:129591568 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) deletion Merosin deficient congenital muscular dystrophy [RCV001638187] Chr6:129503112..129503115 [GRCh38]
Chr6:129824257..129824260 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1206+107C>G single nucleotide variant not provided [RCV001671155] Chr6:129154790 [GRCh38]
Chr6:129475935 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7901T>A (p.Ile2634Asn) single nucleotide variant not provided [RCV001587512] Chr6:129491903 [GRCh38]
Chr6:129813048 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.112+173G>A single nucleotide variant not provided [RCV001670945] Chr6:128883530 [GRCh38]
Chr6:129204675 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2856+210dup duplication not provided [RCV001644361] Chr6:129291921..129291922 [GRCh38]
Chr6:129613066..129613067 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1392G>A (p.Pro464=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001062867] Chr6:129177791 [GRCh38]
Chr6:129498936 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.819+205C>T single nucleotide variant not provided [RCV001650250] Chr6:129144285 [GRCh38]
Chr6:129465430 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1307-117A>T single nucleotide variant not provided [RCV001587856] Chr6:129177589 [GRCh38]
Chr6:129498734 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6599G>A (p.Arg2200His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001063289]|Merosin deficient congenital muscular dystrophy [RCV001352917]|Merosin deficient congenital muscular dystrophy [RCV001810493]|not provided [RCV001815467]|not specified [RCV001553634] Chr6:129454180 [GRCh38]
Chr6:129775325 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.1775G>T (p.Gly592Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001068308] Chr6:129192846 [GRCh38]
Chr6:129513991 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1468-56C>T single nucleotide variant not provided [RCV001534072] Chr6:129190149 [GRCh38]
Chr6:129511294 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+3287A>T single nucleotide variant not provided [RCV001707207] Chr6:129386520 [GRCh38]
Chr6:129707665 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4544G>T (p.Gly1515Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001069028]|not provided [RCV003480947] Chr6:129353184 [GRCh38]
Chr6:129674329 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7573-316C>G single nucleotide variant not provided [RCV001534099] Chr6:129480947 [GRCh38]
Chr6:129802092 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-153C>A single nucleotide variant not provided [RCV001710546] Chr6:129460047 [GRCh38]
Chr6:129781192 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1823A>G (p.Tyr608Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001064059] Chr6:129250152 [GRCh38]
Chr6:129571297 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4861-174C>T single nucleotide variant not provided [RCV001586637] Chr6:129369718 [GRCh38]
Chr6:129690863 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+180G>T single nucleotide variant not provided [RCV001690346] Chr6:129453311 [GRCh38]
Chr6:129774456 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.639+94G>A single nucleotide variant not provided [RCV001584836] Chr6:129098509 [GRCh38]
Chr6:129419654 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1253C>T (p.Pro418Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001058893] Chr6:129165622 [GRCh38]
Chr6:129486767 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1885-234G>A single nucleotide variant not provided [RCV001585117] Chr6:129251850 [GRCh38]
Chr6:129572995 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-147C>A single nucleotide variant not provided [RCV001574747] Chr6:129190058 [GRCh38]
Chr6:129511203 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3001C>T (p.His1001Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001066639] Chr6:129297829 [GRCh38]
Chr6:129618974 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6574-198_6574-197dup duplication not provided [RCV001537438] Chr6:129453945..129453946 [GRCh38]
Chr6:129775090..129775091 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+127T>A single nucleotide variant not provided [RCV001725668] Chr6:129492610 [GRCh38]
Chr6:129813755 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.4936G>A (p.Glu1646Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001204572] Chr6:129369967 [GRCh38]
Chr6:129691112 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8569C>G (p.Gln2857Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001208371] Chr6:129505221 [GRCh38]
Chr6:129826366 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6283dup (p.Ala2095fs) duplication LAMA2-related muscular dystrophy [RCV001206235] Chr6:129445674..129445675 [GRCh38]
Chr6:129766819..129766820 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4649C>A (p.Pro1550His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001048234] Chr6:129353289 [GRCh38]
Chr6:129674434 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4123G>A (p.Asp1375Asn) single nucleotide variant Inborn genetic diseases [RCV003160373]|LAMA2-related muscular dystrophy [RCV001048272] Chr6:129320602 [GRCh38]
Chr6:129641747 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.902C>T (p.Ala301Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001068322]|not provided [RCV003130147] Chr6:129147041 [GRCh38]
Chr6:129468186 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.1840G>A (p.Glu614Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001203974] Chr6:129250169 [GRCh38]
Chr6:129571314 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7262A>G (p.Lys2421Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001205241] Chr6:129465251 [GRCh38]
Chr6:129786396 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8074G>T (p.Val2692Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001218939] Chr6:129492076 [GRCh38]
Chr6:129813221 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3667del (p.Asp1222_Leu1223insTer) deletion not provided [RCV001091210] Chr6:129315586 [GRCh38]
Chr6:129636731 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1249G>A (p.Asp417Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001247272]|not provided [RCV003132350] Chr6:129165618 [GRCh38]
Chr6:129486763 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5296G>T (p.Glu1766Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001201838] Chr6:129393106 [GRCh38]
Chr6:129714251 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1326T>G (p.Cys442Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001236837] Chr6:129177725 [GRCh38]
Chr6:129498870 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.6538G>A (p.Asp2180Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001049819] Chr6:129453096 [GRCh38]
Chr6:129774241 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3143C>A (p.Thr1048Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001050576] Chr6:129300841 [GRCh38]
Chr6:129621986 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2339C>G (p.Thr780Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001212599] Chr6:129270640 [GRCh38]
Chr6:129591785 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7040G>T (p.Gly2347Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001042574]|Primary dilated cardiomyopathy [RCV001293066]|not provided [RCV001726422] Chr6:129464337 [GRCh38]
Chr6:129785482 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3466G>A (p.Asp1156Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001042791] Chr6:129314709 [GRCh38]
Chr6:129635854 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7452-3T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001050925]|not provided [RCV003132177] Chr6:129478690 [GRCh38]
Chr6:129799835 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7186G>A (p.Gly2396Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155017] Chr6:129465175 [GRCh38]
Chr6:129786320 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8547+14G>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155135]|LAMA2-related muscular dystrophy [RCV003737005] Chr6:129503294 [GRCh38]
Chr6:129824439 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8357G>A (p.Arg2786His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001248354]|not provided [RCV003132354] Chr6:129502771 [GRCh38]
Chr6:129823916 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5393G>C (p.Arg1798Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001907527] Chr6:129393203 [GRCh38]
Chr6:129714348 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129049908)_(129192863_?)del deletion LAMA2-related muscular dystrophy [RCV001031031] Chr6:129371053..129514008 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3635T>G (p.Phe1212Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001035583]|not provided [RCV003132147] Chr6:129315555 [GRCh38]
Chr6:129636700 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9073T>C (p.Trp3025Arg) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151356] Chr6:129514457 [GRCh38]
Chr6:129835602 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3109A>T (p.Ile1037Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001216908] Chr6:129300807 [GRCh38]
Chr6:129621952 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8683_8687del (p.Thr2895fs) microsatellite LAMA2-related muscular dystrophy [RCV001044793] Chr6:129505330..129505334 [GRCh38]
Chr6:129826475..129826479 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8795G>C (p.Gly2932Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001206114] Chr6:129507580 [GRCh38]
Chr6:129828725 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2053C>G (p.Leu685Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001231943] Chr6:129252252 [GRCh38]
Chr6:129573397 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8692del (p.Arg2898fs) deletion LAMA2-related muscular dystrophy [RCV001045182] Chr6:129505343 [GRCh38]
Chr6:129826488 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6908T>C (p.Met2303Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001216035] Chr6:129460240 [GRCh38]
Chr6:129781385 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.327G>A (p.Trp109Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001206890] Chr6:129059827 [GRCh38]
Chr6:129380972 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5960A>C (p.Asp1987Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001232230] Chr6:129427846 [GRCh38]
Chr6:129748991 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8703+2T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001232322] Chr6:129505357 [GRCh38]
Chr6:129826502 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3806C>T (p.Thr1269Ile) single nucleotide variant Inborn genetic diseases [RCV002562995]|LAMA2-related muscular dystrophy [RCV001219321] Chr6:129315832 [GRCh38]
Chr6:129636977 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.12:g.(?_129486464)_(129486632_?)del deletion LAMA2-related muscular dystrophy [RCV001032190] Chr6:129807609..129807777 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1507G>A (p.Gly503Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001037396] Chr6:129190244 [GRCh38]
Chr6:129511389 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1619T>C (p.Met540Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001233589] Chr6:129192690 [GRCh38]
Chr6:129513835 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.912A>G (p.Lys304=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001216417] Chr6:129148981 [GRCh38]
Chr6:129470126 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.358G>A (p.Glu120Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001245735]|not provided [RCV001508200]|not specified [RCV003479304] Chr6:129059858 [GRCh38]
Chr6:129381003 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5910T>A (p.Cys1970Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001214977] Chr6:129427796 [GRCh38]
Chr6:129748941 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2777T>C (p.Phe926Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001065324]|not provided [RCV001507682] Chr6:129291641 [GRCh38]
Chr6:129612786 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129190195)_(129192863_?)dup duplication LAMA2-related muscular dystrophy [RCV001032467] Chr6:129511340..129514008 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.(?_129491891)_(129492493_?)del deletion LAMA2-related muscular dystrophy [RCV001032591] Chr6:129813036..129813638 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1502A>T (p.Lys501Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001046177] Chr6:129190239 [GRCh38]
Chr6:129511384 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8096del (p.Pro2699fs) deletion LAMA2-related muscular dystrophy [RCV001232853]|Merosin deficient congenital muscular dystrophy [RCV003469422] Chr6:129492334 [GRCh38]
Chr6:129813479 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.9031_9034dup (p.Tyr3012fs) duplication LAMA2-related muscular dystrophy [RCV001219550] Chr6:129514412..129514413 [GRCh38]
Chr6:129835557..129835558 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.396+3A>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001157856]|LAMA2-related muscular dystrophy [RCV002557348] Chr6:129059899 [GRCh38]
Chr6:129381044 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.158C>T (p.Thr53Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001228312] Chr6:129049963 [GRCh38]
Chr6:129371108 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3098C>G (p.Pro1033Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001228775] Chr6:129300796 [GRCh38]
Chr6:129621941 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2077G>C (p.Gly693Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001228831] Chr6:129252276 [GRCh38]
Chr6:129573421 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8357+4T>A single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155131] Chr6:129502775 [GRCh38]
Chr6:129823920 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.208G>A (p.Val70Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001070282] Chr6:129050013 [GRCh38]
Chr6:129371158 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8419C>G (p.Arg2807Gly) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001155133]|Inborn genetic diseases [RCV003246733]|LAMA2-related muscular dystrophy [RCV002559491] Chr6:129503152 [GRCh38]
Chr6:129824297 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7898+12A>G single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151227]|LAMA2-related muscular dystrophy [RCV002557260]|Merosin deficient congenital muscular dystrophy [RCV002505728] Chr6:129486634 [GRCh38]
Chr6:129807779 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9007A>G (p.Asn3003Asp) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001151355] Chr6:129514391 [GRCh38]
Chr6:129835536 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5414C>T (p.Ala1805Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001040560] Chr6:129393224 [GRCh38]
Chr6:129714369 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6598C>T (p.Arg2200Cys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001152899]|LAMA2-related muscular dystrophy [RCV002557293]|not provided [RCV002298876] Chr6:129454179 [GRCh38]
Chr6:129775324 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.12:g.(?_129049908)_(129280157_?)del deletion LAMA2-related muscular dystrophy [RCV001032431] Chr6:129371053..129601302 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8760C>T (p.Ala2920=) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001156799]|LAMA2-related muscular dystrophy [RCV001453946] Chr6:129507545 [GRCh38]
Chr6:129828690 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7044T>G (p.Tyr2348Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001041823] Chr6:129464341 [GRCh38]
Chr6:129785486 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5295T>G (p.Asn1765Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001215098] Chr6:129393105 [GRCh38]
Chr6:129714250 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7073A>G (p.Tyr2358Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001065325]|not provided [RCV001509284] Chr6:129464370 [GRCh38]
Chr6:129785515 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7148G>A (p.Arg2383Gln) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154187]|LAMA2-related muscular dystrophy [RCV001859007] Chr6:129464445 [GRCh38]
Chr6:129785590 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9223C>A (p.Gln3075Lys) single nucleotide variant Congenital muscular dystrophy due to partial LAMA2 deficiency [RCV001154398]|not provided [RCV003130169] Chr6:129516201 [GRCh38]
Chr6:129837346 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4310A>T (p.Gln1437Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001067100] Chr6:129328411 [GRCh38]
Chr6:129649556 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6226G>A (p.Val2076Ile) single nucleotide variant Intellectual disability [RCV001252042]|LAMA2-related muscular dystrophy [RCV002570485] Chr6:129440956 [GRCh38]
Chr6:129762101 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7534C>A (p.Pro2512Thr) single nucleotide variant Intellectual disability [RCV001252047] Chr6:129478775 [GRCh38]
Chr6:129799920 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1018G>T (p.Glu340Ter) single nucleotide variant Intellectual disability [RCV001252041] Chr6:129149087 [GRCh38]
Chr6:129470232 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2296T>C (p.Cys766Arg) single nucleotide variant Intellectual disability [RCV001252048] Chr6:129267193 [GRCh38]
Chr6:129588338 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q22.33(chr6:129669428-129736470)x1 copy number loss not provided [RCV001259963] Chr6:129669428..129736470 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33(chr6:129591286-130033233)x3 copy number gain not provided [RCV001259965] Chr6:129591286..130033233 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4312-220C>T single nucleotide variant not provided [RCV001580807] Chr6:129342123 [GRCh38]
Chr6:129663268 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.155T>G (p.Ile52Ser) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001332434] Chr6:129049960 [GRCh38]
Chr6:129371105 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5122G>A (p.Glu1708Lys) single nucleotide variant Inborn genetic diseases [RCV002539552]|LAMA2-related muscular dystrophy [RCV001304457] Chr6:129391541 [GRCh38]
Chr6:129712686 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9106C>A (p.Arg3036Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001304552]|not provided [RCV003132392] Chr6:129514490 [GRCh38]
Chr6:129835635 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.190G>T (p.Glu64Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263618] Chr6:129049995 [GRCh38]
Chr6:129371140 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.198C>A (p.Tyr66Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263619] Chr6:129050003 [GRCh38]
Chr6:129371148 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.424A>T (p.Lys142Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263620] Chr6:129098200 [GRCh38]
Chr6:129419345 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.504T>A (p.Tyr168Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001390189]|Merosin deficient congenital muscular dystrophy [RCV001263621] Chr6:129098280 [GRCh38]
Chr6:129419425 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.569C>A (p.Ser190Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263622] Chr6:129098345 [GRCh38]
Chr6:129419490 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2719G>T (p.Gly907Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263631] Chr6:129288028 [GRCh38]
Chr6:129609173 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2950C>T (p.Gln984Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263632] Chr6:129297778 [GRCh38]
Chr6:129618923 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2957G>A (p.Trp986Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263633] Chr6:129297785 [GRCh38]
Chr6:129618930 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2968G>T (p.Gly990Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263634] Chr6:129297796 [GRCh38]
Chr6:129618941 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3243T>A (p.Cys1081Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263638] Chr6:129312929 [GRCh38]
Chr6:129634074 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7266G>A (p.Trp2422Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263647] Chr6:129465255 [GRCh38]
Chr6:129786400 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7283C>G (p.Ser2428Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263648]|Merosin deficient congenital muscular dystrophy [RCV003462839]|not provided [RCV001780214] Chr6:129465272 [GRCh38]
Chr6:129786417 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7339G>T (p.Glu2447Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263649] Chr6:129473252 [GRCh38]
Chr6:129794397 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7912C>T (p.Gln2638Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263650] Chr6:129491914 [GRCh38]
Chr6:129813059 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8008C>T (p.Gln2670Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263651] Chr6:129492010 [GRCh38]
Chr6:129813155 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8188C>T (p.Gln2730Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002537661]|Merosin deficient congenital muscular dystrophy [RCV001263652] Chr6:129492427 [GRCh38]
Chr6:129813572 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8536C>T (p.Gln2846Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263653] Chr6:129503269 [GRCh38]
Chr6:129824414 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8770C>T (p.Gln2924Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001880064]|Merosin deficient congenital muscular dystrophy [RCV001263654] Chr6:129507555 [GRCh38]
Chr6:129828700 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3704G>A (p.Trp1235Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263925] Chr6:129315624 [GRCh38]
Chr6:129636769 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1278T>A (p.Cys426Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264073] Chr6:129165647 [GRCh38]
Chr6:129486792 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2116G>T (p.Glu706Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264200] Chr6:129260730 [GRCh38]
Chr6:129581875 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2587C>T (p.Gln863Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264203] Chr6:129287896 [GRCh38]
Chr6:129609041 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.602C>A (p.Ser201Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263906] Chr6:129098378 [GRCh38]
Chr6:129419523 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.637G>T (p.Glu213Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263907] Chr6:129098413 [GRCh38]
Chr6:129419558 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.691G>T (p.Glu231Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263908] Chr6:129143952 [GRCh38]
Chr6:129465097 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.781A>T (p.Lys261Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263909] Chr6:129144042 [GRCh38]
Chr6:129465187 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1065T>A (p.Tyr355Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263912] Chr6:129154542 [GRCh38]
Chr6:129475687 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3270T>A (p.Cys1090Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263922] Chr6:129312956 [GRCh38]
Chr6:129634101 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3444C>A (p.Cys1148Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263923] Chr6:129314687 [GRCh38]
Chr6:129635832 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3454A>T (p.Lys1152Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263924] Chr6:129314697 [GRCh38]
Chr6:129635842 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4140T>A (p.Cys1380Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263926] Chr6:129320619 [GRCh38]
Chr6:129641764 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4146T>A (p.Cys1382Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263927] Chr6:129320625 [GRCh38]
Chr6:129641770 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4378A>T (p.Lys1460Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263928] Chr6:129342409 [GRCh38]
Chr6:129663554 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4459G>T (p.Glu1487Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263929] Chr6:129349320 [GRCh38]
Chr6:129670465 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1464C>A (p.Cys488Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264074] Chr6:129177863 [GRCh38]
Chr6:129499008 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1560T>A (p.Cys520Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264075] Chr6:129190297 [GRCh38]
Chr6:129511442 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1612C>T (p.Gln538Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264076] Chr6:129192683 [GRCh38]
Chr6:129513828 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1752G>A (p.Trp584Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264077] Chr6:129192823 [GRCh38]
Chr6:129513968 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1831G>T (p.Glu611Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264078] Chr6:129250160 [GRCh38]
Chr6:129571305 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1834G>T (p.Glu612Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264079] Chr6:129250163 [GRCh38]
Chr6:129571308 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1942G>T (p.Glu648Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264080] Chr6:129252141 [GRCh38]
Chr6:129573286 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4561G>T (p.Gly1521Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264089] Chr6:129353201 [GRCh38]
Chr6:129674346 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4573C>T (p.Gln1525Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264090] Chr6:129353213 [GRCh38]
Chr6:129674358 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4601C>A (p.Ser1534Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264091] Chr6:129353241 [GRCh38]
Chr6:129674386 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4837G>T (p.Glu1613Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264092] Chr6:129366338 [GRCh38]
Chr6:129687483 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4858A>T (p.Lys1620Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264093] Chr6:129366359 [GRCh38]
Chr6:129687504 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4993G>T (p.Gly1665Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264094] Chr6:129383155 [GRCh38]
Chr6:129704300 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5038G>T (p.Glu1680Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001880072]|Merosin deficient congenital muscular dystrophy [RCV001264095] Chr6:129383200 [GRCh38]
Chr6:129704345 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5092A>T (p.Lys1698Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264096] Chr6:129391511 [GRCh38]
Chr6:129712656 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8244+1G>T single nucleotide variant Inborn genetic diseases [RCV001267181] Chr6:129492484 [GRCh38]
Chr6:129813629 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.790A>T (p.Arg264Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263910] Chr6:129144051 [GRCh38]
Chr6:129465196 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1051G>T (p.Glu351Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263911] Chr6:129154528 [GRCh38]
Chr6:129475673 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8126G>T (p.Arg2709Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001313051] Chr6:129492365 [GRCh38]
Chr6:129813510 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2044A>T (p.Lys682Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264199] Chr6:129252243 [GRCh38]
Chr6:129573388 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2328T>A (p.Cys776Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264201] Chr6:129270629 [GRCh38]
Chr6:129591774 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2557G>T (p.Gly853Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264202] Chr6:129287866 [GRCh38]
Chr6:129609011 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2658T>A (p.Cys886Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001880076]|Merosin deficient congenital muscular dystrophy [RCV001264204] Chr6:129287967 [GRCh38]
Chr6:129609112 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2703T>A (p.Cys901Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264205] Chr6:129288012 [GRCh38]
Chr6:129609157 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2710G>T (p.Gly904Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264206] Chr6:129288019 [GRCh38]
Chr6:129609164 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5155A>T (p.Lys1719Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264215] Chr6:129391574 [GRCh38]
Chr6:129712719 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5578C>T (p.Gln1860Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264216] Chr6:129402339 [GRCh38]
Chr6:129723484 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5944A>T (p.Lys1982Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264218] Chr6:129427830 [GRCh38]
Chr6:129748975 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6262A>T (p.Lys2088Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264219] Chr6:129440992 [GRCh38]
Chr6:129762137 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6305T>G (p.Leu2102Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003574869]|Merosin deficient congenital muscular dystrophy [RCV001264220] Chr6:129445697 [GRCh38]
Chr6:129766842 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.6449C>A (p.Ser2150Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264221] Chr6:129453007 [GRCh38]
Chr6:129774152 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5674C>T (p.Gln1892Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001264217] Chr6:129402435 [GRCh38]
Chr6:129723580 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3019C>T (p.Gln1007Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263635]|Merosin deficient congenital muscular dystrophy [RCV003469490] Chr6:129297847 [GRCh38]
Chr6:129618992 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3123T>A (p.Cys1041Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001263636] Chr6:129300821 [GRCh38]
Chr6:129621966 [GRCh37]
Chr6:6q22.33		 likely pathogenic
GRCh37/hg19 6q22.33(chr6:129371967-129453907)x1 copy number loss not provided [RCV001259961] Chr6:129371967..129453907 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1546G>C (p.Asp516His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001302921] Chr6:129190283 [GRCh38]
Chr6:129511428 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1969G>T (p.Glu657Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003814848] Chr6:129252168 [GRCh38]
Chr6:129573313 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3186C>A (p.Cys1062Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001333436] Chr6:129312872 [GRCh38]
Chr6:129634017 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1263del (p.Ser421_Leu422insTer) deletion Merosin deficient congenital muscular dystrophy [RCV001264804]|not provided [RCV001780217] Chr6:129165631 [GRCh38]
Chr6:129486776 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.113-639del deletion Merosin deficient congenital muscular dystrophy [RCV001260242] Chr6:129049279 [GRCh38]
Chr6:129370424 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6589A>G (p.Ile2197Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001304779] Chr6:129454170 [GRCh38]
Chr6:129775315 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5086G>A (p.Ala1696Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001300308] Chr6:129391505 [GRCh38]
Chr6:129712650 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9252C>G (p.Phe3084Leu) single nucleotide variant Inborn genetic diseases [RCV002543219]|LAMA2-related muscular dystrophy [RCV001308027] Chr6:129516230 [GRCh38]
Chr6:129837375 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.59T>C (p.Val20Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001317544]|not provided [RCV003132406] Chr6:128883304 [GRCh38]
Chr6:129204449 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9072A>G (p.Gln3024=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001317545] Chr6:129514456 [GRCh38]
Chr6:129835601 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2549G>A (p.Gly850Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001308590] Chr6:129287858 [GRCh38]
Chr6:129609003 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4763G>A (p.Arg1588His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001298981] Chr6:129366264 [GRCh38]
Chr6:129687409 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6215T>C (p.Leu2072Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001339884] Chr6:129440945 [GRCh38]
Chr6:129762090 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1361A>G (p.Asp454Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001302731] Chr6:129177760 [GRCh38]
Chr6:129498905 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2468A>T (p.His823Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001302466]|not provided [RCV003490174] Chr6:129280078 [GRCh38]
Chr6:129601223 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8876G>C (p.Gly2959Ala) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001334440] Chr6:129512381 [GRCh38]
Chr6:129833526 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2137A>G (p.Thr713Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001309028] Chr6:129260751 [GRCh38]
Chr6:129581896 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4882G>A (p.Ala1628Thr) single nucleotide variant Inborn genetic diseases [RCV002543808]|LAMA2-related muscular dystrophy [RCV001320738]|not provided [RCV003132409] Chr6:129369913 [GRCh38]
Chr6:129691058 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9367_*1dup (p.Ter3123=) duplication LAMA2-related condition [RCV003898317]|LAMA2-related muscular dystrophy [RCV001503658] Chr6:129516344..129516345 [GRCh38]
Chr6:129837489..129837490 [GRCh37]
Chr6:6q22.33		 pathogenic|likely benign
NM_000426.4(LAMA2):c.2756G>A (p.Arg919His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001307102]|not provided [RCV003130253] Chr6:129291620 [GRCh38]
Chr6:129612765 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4625T>C (p.Val1542Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001320864] Chr6:129353265 [GRCh38]
Chr6:129674410 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8765T>C (p.Leu2922Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001338426] Chr6:129507550 [GRCh38]
Chr6:129828695 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4532C>T (p.Pro1511Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001299876] Chr6:129353172 [GRCh38]
Chr6:129674317 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1322C>T (p.Ser441Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001341306] Chr6:129177721 [GRCh38]
Chr6:129498866 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4898T>C (p.Ile1633Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001304544] Chr6:129369929 [GRCh38]
Chr6:129691074 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5181A>C (p.Glu1727Asp) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001329264]|not provided [RCV003130273] Chr6:129391600 [GRCh38]
Chr6:129712745 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1439A>G (p.Asp480Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001341520]|not provided [RCV003130481] Chr6:129177838 [GRCh38]
Chr6:129498983 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5269C>T (p.Leu1757=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422134] Chr6:129393079 [GRCh38]
Chr6:129714224 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4071C>T (p.Ile1357=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001415126] Chr6:129320550 [GRCh38]
Chr6:129641695 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8748del (p.Glu2917fs) deletion LAMA2-related muscular dystrophy [RCV001383069] Chr6:129507533 [GRCh38]
Chr6:129828678 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.666A>C (p.Arg222Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001372201]|not provided [RCV003130511] Chr6:129143927 [GRCh38]
Chr6:129465072 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.5413G>T (p.Ala1805Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001361326] Chr6:129393223 [GRCh38]
Chr6:129714368 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6747T>C (p.Asp2249=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001414304] Chr6:129456374 [GRCh38]
Chr6:129777519 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6135C>T (p.Asn2045=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001433607] Chr6:129440865 [GRCh38]
Chr6:129762010 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4923T>C (p.Asn1641=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001397208] Chr6:129369954 [GRCh38]
Chr6:129691099 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2637T>C (p.Cys879=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001415145] Chr6:129287946 [GRCh38]
Chr6:129609091 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4635C>T (p.Phe1545=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001392112] Chr6:129353275 [GRCh38]
Chr6:129674420 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8571A>G (p.Gln2857=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001415477] Chr6:129505223 [GRCh38]
Chr6:129826368 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2826C>T (p.Asn942=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001397692] Chr6:129291690 [GRCh38]
Chr6:129612835 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7989G>C (p.Gly2663=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001423232] Chr6:129491991 [GRCh38]
Chr6:129813136 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5937C>G (p.Asn1979Lys) single nucleotide variant Inborn genetic diseases [RCV002545629]|LAMA2-related muscular dystrophy [RCV001350629] Chr6:129427823 [GRCh38]
Chr6:129748968 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3129A>T (p.Lys1043Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001361566]|not provided [RCV001507683] Chr6:129300827 [GRCh38]
Chr6:129621972 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4518T>C (p.Cys1506=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001414511] Chr6:129349379 [GRCh38]
Chr6:129670524 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3897G>T (p.Leu1299Phe) single nucleotide variant not provided [RCV001354539] Chr6:129315923 [GRCh38]
Chr6:129637068 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6993-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001382670] Chr6:129464288 [GRCh38]
Chr6:129785433 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6225C>T (p.Ser2075=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001414846] Chr6:129440955 [GRCh38]
Chr6:129762100 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-6A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001433508] Chr6:129445661 [GRCh38]
Chr6:129766806 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5348T>C (p.Val1783Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001369205] Chr6:129393158 [GRCh38]
Chr6:129714303 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3297C>A (p.Asn1099Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001372685] Chr6:129312983 [GRCh38]
Chr6:129634128 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6900T>C (p.Thr2300=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001412839] Chr6:129460232 [GRCh38]
Chr6:129781377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.12C>G (p.Ala4=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422139] Chr6:128883257 [GRCh38]
Chr6:129204402 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.468C>T (p.Arg156=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001396805] Chr6:129098244 [GRCh38]
Chr6:129419389 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7863A>G (p.Gly2621=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001391842] Chr6:129486587 [GRCh38]
Chr6:129807732 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2286T>C (p.His762=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422666] Chr6:129267183 [GRCh38]
Chr6:129588328 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6436G>A (p.Val2146Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001338656] Chr6:129452994 [GRCh38]
Chr6:129774139 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5406C>G (p.Arg1802=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001395377] Chr6:129393216 [GRCh38]
Chr6:129714361 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8595G>A (p.Gly2865=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001392100] Chr6:129505247 [GRCh38]
Chr6:129826392 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4815A>G (p.Pro1605=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001433404] Chr6:129366316 [GRCh38]
Chr6:129687461 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+4_9211+7dup duplication LAMA2-related muscular dystrophy [RCV001433521] Chr6:129514595..129514596 [GRCh38]
Chr6:129835740..129835741 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7090G>A (p.Val2364Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001368197] Chr6:129464387 [GRCh38]
Chr6:129785532 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1110A>G (p.Gly370=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422407] Chr6:129154587 [GRCh38]
Chr6:129475732 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2277C>T (p.Cys759=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001433843] Chr6:129267174 [GRCh38]
Chr6:129588319 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4860G>A (p.Lys1620=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001316731]|not provided [RCV002462927] Chr6:129366361 [GRCh38]
Chr6:129687506 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.8492G>A (p.Ser2831Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001369040]|not provided [RCV003130508] Chr6:129503225 [GRCh38]
Chr6:129824370 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9275A>C (p.Lys3092Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001296453] Chr6:129516253 [GRCh38]
Chr6:129837398 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7413T>C (p.Gly2471=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001413766] Chr6:129473326 [GRCh38]
Chr6:129794471 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.57C>T (p.Gly19=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001415262] Chr6:128883302 [GRCh38]
Chr6:129204447 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2477G>C (p.Arg826Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001348280] Chr6:129280087 [GRCh38]
Chr6:129601232 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4852G>A (p.Glu1618Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001370380] Chr6:129366353 [GRCh38]
Chr6:129687498 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7898+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001413948] Chr6:129486630 [GRCh38]
Chr6:129807775 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3038-10A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001392659] Chr6:129300726 [GRCh38]
Chr6:129621871 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5404C>A (p.Arg1802Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001349493] Chr6:129393214 [GRCh38]
Chr6:129714359 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1609-10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001396217] Chr6:129192670 [GRCh38]
Chr6:129513815 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001392708] Chr6:129391663 [GRCh38]
Chr6:129712808 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5170A>G (p.Met1724Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001294835] Chr6:129391589 [GRCh38]
Chr6:129712734 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2193T>C (p.Thr731=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001396327] Chr6:129260807 [GRCh38]
Chr6:129581952 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4059-4C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001396436] Chr6:129320534 [GRCh38]
Chr6:129641679 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8718T>C (p.Ile2906=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001433322] Chr6:129507503 [GRCh38]
Chr6:129828648 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9249G>A (p.Pro3083=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001422865] Chr6:129516227 [GRCh38]
Chr6:129837372 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2438T>C (p.Ile813Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001362077] Chr6:129270739 [GRCh38]
Chr6:129591884 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7898G>C (p.Gly2633Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001364628] Chr6:129486622 [GRCh38]
Chr6:129807767 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2792A>G (p.His931Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001303111] Chr6:129291656 [GRCh38]
Chr6:129612801 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3010T>C (p.Phe1004Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001315445] Chr6:129297838 [GRCh38]
Chr6:129618983 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8531A>T (p.Asp2844Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001300050] Chr6:129503264 [GRCh38]
Chr6:129824409 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.396+6G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001345787] Chr6:129059902 [GRCh38]
Chr6:129381047 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7560A>T (p.Gly2520=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001362909] Chr6:129478801 [GRCh38]
Chr6:129799946 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8857G>A (p.Val2953Ile) single nucleotide variant not provided [RCV001288669] Chr6:129507642 [GRCh38]
Chr6:129828787 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4591C>A (p.Pro1531Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001365075]|not provided [RCV003132474] Chr6:129353231 [GRCh38]
Chr6:129674376 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7187G>A (p.Gly2396Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001351001]|not provided [RCV003130494] Chr6:129465176 [GRCh38]
Chr6:129786321 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1375G>A (p.Gly459Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001370267] Chr6:129177774 [GRCh38]
Chr6:129498919 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2488T>G (p.Leu830Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001365120]|not provided [RCV003130502] Chr6:129280098 [GRCh38]
Chr6:129601243 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3836G>C (p.Gly1279Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001359538] Chr6:129315862 [GRCh38]
Chr6:129637007 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.470C>G (p.Ser157Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001316704]|Primary dilated cardiomyopathy [RCV003319226] Chr6:129098246 [GRCh38]
Chr6:129419391 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8906G>A (p.Arg2969His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001347093]|not provided [RCV001355530] Chr6:129512411 [GRCh38]
Chr6:129833556 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7055G>C (p.Ser2352Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001313311] Chr6:129464352 [GRCh38]
Chr6:129785497 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9355_*8del (p.Cys3119fs) deletion LAMA2-related muscular dystrophy [RCV001326775] Chr6:129516332..129516354 [GRCh38]
Chr6:129837477..129837499 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3944G>A (p.Gly1315Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001341043] Chr6:129316057 [GRCh38]
Chr6:129637202 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5C>G (p.Pro2Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001295366] Chr6:128883250 [GRCh38]
Chr6:129204395 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5267A>T (p.Lys1756Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001344139] Chr6:129393077 [GRCh38]
Chr6:129714222 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7403T>C (p.Ile2468Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001347352] Chr6:129473316 [GRCh38]
Chr6:129794461 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6497G>C (p.Ser2166Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001323323] Chr6:129453055 [GRCh38]
Chr6:129774200 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6485T>C (p.Ile2162Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001323354] Chr6:129453043 [GRCh38]
Chr6:129774188 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8914A>G (p.Thr2972Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001372553] Chr6:129512419 [GRCh38]
Chr6:129833564 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7913A>T (p.Gln2638Leu) single nucleotide variant Inborn genetic diseases [RCV003263952]|LAMA2-related muscular dystrophy [RCV001320790] Chr6:129491915 [GRCh38]
Chr6:129813060 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6236C>T (p.Thr2079Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001347673]|not provided [RCV001773695] Chr6:129440966 [GRCh38]
Chr6:129762111 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4058+3A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001363553] Chr6:129316174 [GRCh38]
Chr6:129637319 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8426A>G (p.Asn2809Ser) single nucleotide variant Inborn genetic diseases [RCV002543185]|LAMA2-related muscular dystrophy [RCV001307111] Chr6:129503159 [GRCh38]
Chr6:129824304 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.877G>T (p.Ala293Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001320982] Chr6:129147016 [GRCh38]
Chr6:129468161 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4462_4463delinsAT (p.Gly1488Ile) indel LAMA2-related muscular dystrophy [RCV001345389] Chr6:129349323..129349324 [GRCh38]
Chr6:129670468..129670469 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4498G>A (p.Gly1500Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001344493]|not provided [RCV003132441] Chr6:129349359 [GRCh38]
Chr6:129670504 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2572C>A (p.Pro858Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001373242] Chr6:129287881 [GRCh38]
Chr6:129609026 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.236G>A (p.Arg79Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001319722] Chr6:129050041 [GRCh38]
Chr6:129371186 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.11:g.(?_129571237)_(129588384_?)del deletion LAMA2-related muscular dystrophy [RCV001343349] Chr6:129571237..129588384 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4188G>A (p.Pro1396=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001343385]|Merosin deficient congenital muscular dystrophy [RCV002486392] Chr6:129328289 [GRCh38]
Chr6:129649434 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6773G>A (p.Ser2258Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001322713] Chr6:129456400 [GRCh38]
Chr6:129777545 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7838C>T (p.Pro2613Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001302956] Chr6:129486562 [GRCh38]
Chr6:129807707 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2264_2275del (p.Glu755_Cys759delinsGly) deletion LAMA2-related muscular dystrophy [RCV001309324] Chr6:129267161..129267172 [GRCh38]
Chr6:129588306..129588317 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8708C>T (p.Thr2903Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002547659]|not provided [RCV001357308] Chr6:129507493 [GRCh38]
Chr6:129828638 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1937C>G (p.Ser646Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001299432] Chr6:129252136 [GRCh38]
Chr6:129573281 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129419305)_(129514008_?)dup duplication LAMA2-related muscular dystrophy [RCV001299577] Chr6:129419305..129514008 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4811C>T (p.Ala1604Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001366535] Chr6:129366312 [GRCh38]
Chr6:129687457 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7022T>C (p.Ile2341Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001366601] Chr6:129464319 [GRCh38]
Chr6:129785464 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1320A>G (p.Gly440=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001412461] Chr6:129177719 [GRCh38]
Chr6:129498864 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6574-7G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001412463] Chr6:129454148 [GRCh38]
Chr6:129775293 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3956G>A (p.Arg1319Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001968093]|not provided [RCV003134280] Chr6:129316069 [GRCh38]
Chr6:129637214 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4717+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001859257]|Merosin deficient congenital muscular dystrophy [RCV001329263] Chr6:129353362 [GRCh38]
Chr6:129674507 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7753T>C (p.Tyr2585His) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001329268] Chr6:129486477 [GRCh38]
Chr6:129807622 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7898+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003574877]|Merosin deficient congenital muscular dystrophy [RCV001329269] Chr6:129486623 [GRCh38]
Chr6:129807768 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6837G>C (p.Leu2279=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001394741] Chr6:129456464 [GRCh38]
Chr6:129777609 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4603C>T (p.Leu1535=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001413283] Chr6:129353243 [GRCh38]
Chr6:129674388 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.549T>C (p.Tyr183=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001413313] Chr6:129098325 [GRCh38]
Chr6:129419470 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2217G>A (p.Trp739Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001269412]|not provided [RCV003490162] Chr6:129267114 [GRCh38]
Chr6:129588259 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3716A>G (p.Glu1239Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001371528] Chr6:129315636 [GRCh38]
Chr6:129636781 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4893G>A (p.Arg1631=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001394689] Chr6:129369924 [GRCh38]
Chr6:129691069 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2416C>A (p.Pro806Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001296652] Chr6:129270717 [GRCh38]
Chr6:129591862 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5382A>T (p.Thr1794=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001394945] Chr6:129393192 [GRCh38]
Chr6:129714337 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4960-132A>G single nucleotide variant Muscular dystrophy [RCV001357315] Chr6:129382990 [GRCh38]
Chr6:129704135 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6282T>C (p.Asp2094=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001395786] Chr6:129445674 [GRCh38]
Chr6:129766819 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2181A>C (p.Pro727=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001395826] Chr6:129260795 [GRCh38]
Chr6:129581940 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6658C>G (p.Pro2220Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001297644] Chr6:129454239 [GRCh38]
Chr6:129775384 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3041G>T (p.Cys1014Phe) single nucleotide variant not provided [RCV001354671] Chr6:129300739 [GRCh38]
Chr6:129621884 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3261T>C (p.Gly1087=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494504] Chr6:129312947 [GRCh38]
Chr6:129634092 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1712A>T (p.Asn571Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001359300] Chr6:129192783 [GRCh38]
Chr6:129513928 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8414T>G (p.Met2805Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001348977] Chr6:129503147 [GRCh38]
Chr6:129824292 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1713C>G (p.Asn571Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001312588] Chr6:129192784 [GRCh38]
Chr6:129513929 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129419305)_(129475838_?)dup duplication Laminin alpha 2-related dystrophy [RCV001327819] Chr6:129419305..129475838 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3219T>G (p.Asn1073Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001349067] Chr6:129312905 [GRCh38]
Chr6:129634050 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1998T>A (p.His666Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001317156] Chr6:129252197 [GRCh38]
Chr6:129573342 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7486C>T (p.Leu2496Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001365602]|Merosin deficient congenital muscular dystrophy [RCV002504600]|not provided [RCV003132476] Chr6:129478727 [GRCh38]
Chr6:129799872 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5463T>G (p.Val1821=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494482] Chr6:129401241 [GRCh38]
Chr6:129722386 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7156-4A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001396227] Chr6:129465141 [GRCh38]
Chr6:129786286 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9340G>T (p.Val3114Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001306719] Chr6:129516318 [GRCh38]
Chr6:129837463 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2352T>C (p.Tyr784=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001412389] Chr6:129270653 [GRCh38]
Chr6:129591798 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8484C>G (p.Asp2828Glu) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001329271] Chr6:129503217 [GRCh38]
Chr6:129824362 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4794C>G (p.Leu1598=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001469458] Chr6:129366295 [GRCh38]
Chr6:129687440 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4717+9A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001450328] Chr6:129353366 [GRCh38]
Chr6:129674511 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6216A>G (p.Leu2072=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461572] Chr6:129440946 [GRCh38]
Chr6:129762091 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5925C>T (p.Phe1975=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468082] Chr6:129427811 [GRCh38]
Chr6:129748956 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1106G>A (p.Arg369His) single nucleotide variant Inborn genetic diseases [RCV002563292]|LAMA2-related muscular dystrophy [RCV001494268]|not provided [RCV003132505] Chr6:129154583 [GRCh38]
Chr6:129475728 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1809A>G (p.Thr603=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001401985] Chr6:129250138 [GRCh38]
Chr6:129571283 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4312-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001389233] Chr6:129342341 [GRCh38]
Chr6:129663486 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.909+10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001481401] Chr6:129147058 [GRCh38]
Chr6:129468203 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.831G>C (p.Ser277=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001464185] Chr6:129146970 [GRCh38]
Chr6:129468115 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6574-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001454620] Chr6:129454146 [GRCh38]
Chr6:129775291 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001479186] Chr6:129478683 [GRCh38]
Chr6:129799828 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2157A>C (p.Ala719=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001482192] Chr6:129260771 [GRCh38]
Chr6:129581916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4718-8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001465082] Chr6:129366211 [GRCh38]
Chr6:129687356 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6819G>C (p.Val2273=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001495280] Chr6:129456446 [GRCh38]
Chr6:129777591 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5226T>C (p.Asp1742=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001404585] Chr6:129391645 [GRCh38]
Chr6:129712790 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1404C>T (p.Ala468=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487212] Chr6:129177803 [GRCh38]
Chr6:129498948 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7254T>C (p.Asn2418=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001492314] Chr6:129465243 [GRCh38]
Chr6:129786388 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4623T>C (p.Pro1541=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001475134] Chr6:129353263 [GRCh38]
Chr6:129674408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2598A>G (p.Gln866=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001475150] Chr6:129287907 [GRCh38]
Chr6:129609052 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9162A>G (p.Ala3054=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001404742] Chr6:129514546 [GRCh38]
Chr6:129835691 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001464604] Chr6:129192862 [GRCh38]
Chr6:129514007 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1960T>C (p.Leu654=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001475229] Chr6:129252159 [GRCh38]
Chr6:129573304 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2865C>T (p.Thr955=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001495941] Chr6:129297693 [GRCh38]
Chr6:129618838 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.114T>C (p.Gly38=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451276] Chr6:129049919 [GRCh38]
Chr6:129371064 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6996T>A (p.Pro2332=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001505977] Chr6:129464293 [GRCh38]
Chr6:129785438 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9303G>A (p.Leu3101=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001417298] Chr6:129516281 [GRCh38]
Chr6:129837426 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573del (p.Phe2191fs) deletion LAMA2-related muscular dystrophy [RCV001385176] Chr6:129453129 [GRCh38]
Chr6:129774274 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6513T>G (p.Val2171=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461382] Chr6:129453071 [GRCh38]
Chr6:129774216 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2169G>T (p.Val723=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001417044] Chr6:129260783 [GRCh38]
Chr6:129581928 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001484342] Chr6:129147056 [GRCh38]
Chr6:129468201 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8455A>C (p.Arg2819=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001470378] Chr6:129503188 [GRCh38]
Chr6:129824333 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7455A>G (p.Pro2485=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487740] Chr6:129478696 [GRCh38]
Chr6:129799841 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5379C>T (p.Ala1793=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001499828] Chr6:129393189 [GRCh38]
Chr6:129714334 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-4A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001516321] Chr6:129478689 [GRCh38]
Chr6:129799834 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5673C>T (p.Ser1891=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001503013] Chr6:129402434 [GRCh38]
Chr6:129723579 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2034T>G (p.Leu678=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001405164] Chr6:129252233 [GRCh38]
Chr6:129573378 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8673C>T (p.Pro2891=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461540] Chr6:129505325 [GRCh38]
Chr6:129826470 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5019A>G (p.Thr1673=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001457623] Chr6:129383181 [GRCh38]
Chr6:129704326 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7671G>A (p.Lys2557=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001488152] Chr6:129481361 [GRCh38]
Chr6:129802506 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6912A>G (p.Gly2304=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001455426] Chr6:129460244 [GRCh38]
Chr6:129781389 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001520958] Chr6:129492097 [GRCh38]
Chr6:129813242 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.594C>T (p.Ile198=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001428347] Chr6:129098370 [GRCh38]
Chr6:129419515 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4869G>A (p.Leu1623=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001504945] Chr6:129369900 [GRCh38]
Chr6:129691045 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5052G>A (p.Glu1684=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001491261] Chr6:129383214 [GRCh38]
Chr6:129704359 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8565T>C (p.Ser2855=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001492602] Chr6:129505217 [GRCh38]
Chr6:129826362 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1722C>T (p.Ala574=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001492676] Chr6:129192793 [GRCh38]
Chr6:129513938 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6219A>T (p.Ala2073=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001500251] Chr6:129440949 [GRCh38]
Chr6:129762094 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4428C>T (p.Ser1476=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451923] Chr6:129342459 [GRCh38]
Chr6:129663604 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001378648] Chr6:129250215 [GRCh38]
Chr6:129571360 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3030C>A (p.Gly1010=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001441865] Chr6:129297858 [GRCh38]
Chr6:129619003 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8187C>T (p.Ile2729=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001466076] Chr6:129492426 [GRCh38]
Chr6:129813571 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6990C>G (p.Val2330=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001469292]|not provided [RCV003132501] Chr6:129460322 [GRCh38]
Chr6:129781467 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5602G>T (p.Glu1868Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001385712]|Merosin deficient congenital muscular dystrophy [RCV003473960] Chr6:129402363 [GRCh38]
Chr6:129723508 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.910-1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001390272]|not provided [RCV001780377] Chr6:129148978 [GRCh38]
Chr6:129470123 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5844T>C (p.Leu1948=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001442019] Chr6:129403938 [GRCh38]
Chr6:129725083 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4177-7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001455407] Chr6:129328271 [GRCh38]
Chr6:129649416 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3144C>T (p.Thr1048=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001471546]|not provided [RCV001725218] Chr6:129300842 [GRCh38]
Chr6:129621987 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3930A>G (p.Glu1310=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001492815] Chr6:129316043 [GRCh38]
Chr6:129637188 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3288T>A (p.Gly1096=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001475662] Chr6:129312974 [GRCh38]
Chr6:129634119 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7614G>A (p.Glu2538=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001418316] Chr6:129481304 [GRCh38]
Chr6:129802449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9090C>T (p.Ala3030=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001439440] Chr6:129514474 [GRCh38]
Chr6:129835619 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6432C>T (p.Ile2144=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403229] Chr6:129452990 [GRCh38]
Chr6:129774135 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1863C>T (p.Leu621=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001442283] Chr6:129250192 [GRCh38]
Chr6:129571337 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1722C>A (p.Ala574=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001505643]|not provided [RCV003132507] Chr6:129192793 [GRCh38]
Chr6:129513938 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1713C>T (p.Asn571=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001491587] Chr6:129192784 [GRCh38]
Chr6:129513929 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8373G>A (p.Leu2791=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001491612] Chr6:129503106 [GRCh38]
Chr6:129824251 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.908dup (p.Asn303fs) duplication Merosin deficient congenital muscular dystrophy [RCV001527398] Chr6:129147044..129147045 [GRCh38]
Chr6:129468189..129468190 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.717C>T (p.Arg239=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001400792] Chr6:129143978 [GRCh38]
Chr6:129465123 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6873T>C (p.Ala2291=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403357] Chr6:129460205 [GRCh38]
Chr6:129781350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.525G>A (p.Glu175=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001503430] Chr6:129098301 [GRCh38]
Chr6:129419446 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.283+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001472011] Chr6:129050095 [GRCh38]
Chr6:129371240 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2337C>T (p.His779=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001475755] Chr6:129270638 [GRCh38]
Chr6:129591783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3231C>A (p.Gly1077=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001480891]|not provided [RCV003434266] Chr6:129312917 [GRCh38]
Chr6:129634062 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6582T>C (p.Phe2194=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001504301] Chr6:129454163 [GRCh38]
Chr6:129775308 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7338G>A (p.Glu2446=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487096] Chr6:129473251 [GRCh38]
Chr6:129794396 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4803G>C (p.Pro1601=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487253] Chr6:129366304 [GRCh38]
Chr6:129687449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7416C>A (p.Gly2472=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487262] Chr6:129473329 [GRCh38]
Chr6:129794474 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9158del (p.Pro3053fs) deletion LAMA2-related muscular dystrophy [RCV001390726] Chr6:129514540 [GRCh38]
Chr6:129835685 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7572+7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001491730] Chr6:129478820 [GRCh38]
Chr6:129799965 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001493050] Chr6:129192860 [GRCh38]
Chr6:129514005 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.708C>T (p.Thr236=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001477763]|not provided [RCV003130525] Chr6:129143969 [GRCh38]
Chr6:129465114 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3525C>T (p.Cys1175=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001474672] Chr6:129314768 [GRCh38]
Chr6:129635913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1875T>A (p.Ile625=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001493215] Chr6:129250204 [GRCh38]
Chr6:129571349 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3891C>A (p.Gly1297=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001493227] Chr6:129315917 [GRCh38]
Chr6:129637062 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001460833] Chr6:129143892 [GRCh38]
Chr6:129465037 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7965C>T (p.Ile2655=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001501456] Chr6:129491967 [GRCh38]
Chr6:129813112 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4911G>A (p.Glu1637=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001501566] Chr6:129369942 [GRCh38]
Chr6:129691087 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9009T>C (p.Asn3003=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001481421] Chr6:129514393 [GRCh38]
Chr6:129835538 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1497T>C (p.Arg499=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001487770] Chr6:129190234 [GRCh38]
Chr6:129511379 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.639+7T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001434726] Chr6:129098422 [GRCh38]
Chr6:129419567 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7693T>C (p.Leu2565=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001437774] Chr6:129481383 [GRCh38]
Chr6:129802528 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6303T>C (p.Asn2101=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001429325] Chr6:129445695 [GRCh38]
Chr6:129766840 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7296A>G (p.Lys2432=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001423863] Chr6:129465285 [GRCh38]
Chr6:129786430 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-4C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001463654] Chr6:129403817 [GRCh38]
Chr6:129724962 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6063A>G (p.Gly2021=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001485954] Chr6:129438740 [GRCh38]
Chr6:129759885 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4058+8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001488293] Chr6:129316179 [GRCh38]
Chr6:129637324 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2625C>T (p.Ile875=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001442880] Chr6:129287934 [GRCh38]
Chr6:129609079 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8076-6T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001450227] Chr6:129492309 [GRCh38]
Chr6:129813454 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001393674] Chr6:129514364 [GRCh38]
Chr6:129835509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5736T>C (p.Asp1912=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001491973] Chr6:129403830 [GRCh38]
Chr6:129724975 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7836A>G (p.Arg2612=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001493422] Chr6:129486560 [GRCh38]
Chr6:129807705 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6525G>A (p.Lys2175=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001464448] Chr6:129453083 [GRCh38]
Chr6:129774228 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4814_4830del (p.Pro1605fs) deletion LAMA2-related muscular dystrophy [RCV001389038] Chr6:129366315..129366331 [GRCh38]
Chr6:129687460..129687476 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.750A>G (p.Thr250=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001460218] Chr6:129144011 [GRCh38]
Chr6:129465156 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2442A>G (p.Pro814=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453092] Chr6:129270743 [GRCh38]
Chr6:129591888 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2320C>T (p.Leu774=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001474899] Chr6:129267217 [GRCh38]
Chr6:129588362 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7419G>C (p.Leu2473=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001478724] Chr6:129473332 [GRCh38]
Chr6:129794477 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5793T>C (p.Ile1931=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001502154] Chr6:129403887 [GRCh38]
Chr6:129725032 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9195_9198dup (p.Gly3067fs) microsatellite LAMA2-related muscular dystrophy [RCV001389059]|not provided [RCV003145654] Chr6:129514574..129514575 [GRCh38]
Chr6:129835719..129835720 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7644A>T (p.Thr2548=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001460450] Chr6:129481334 [GRCh38]
Chr6:129802479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5379C>A (p.Ala1793=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001416727] Chr6:129393189 [GRCh38]
Chr6:129714334 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTT (p.Tyr1234delinsPhePhePhePhePhePhePhePheTer) microsatellite LAMA2-related muscular dystrophy [RCV001385983] Chr6:129315616..129315617 [GRCh38]
Chr6:129636761..129636762 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3332del (p.Pro1111fs) deletion LAMA2-related muscular dystrophy [RCV001387135] Chr6:129313016 [GRCh38]
Chr6:129634161 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2097-9C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001427641] Chr6:129260702 [GRCh38]
Chr6:129581847 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.11:g.(?_129785425)_(129802594_?)del deletion LAMA2-related muscular dystrophy [RCV001389235] Chr6:129785425..129802594 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4473C>T (p.Asp1491=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001404395] Chr6:129349334 [GRCh38]
Chr6:129670479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8487G>A (p.Leu2829=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001411678] Chr6:129503220 [GRCh38]
Chr6:129824365 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3591G>C (p.Leu1197=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001407001] Chr6:129315511 [GRCh38]
Chr6:129636656 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9111T>C (p.Ile3037=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001428735] Chr6:129514495 [GRCh38]
Chr6:129835640 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3747T>C (p.Tyr1249=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001432381] Chr6:129315773 [GRCh38]
Chr6:129636918 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8457A>G (p.Arg2819=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001448642] Chr6:129503190 [GRCh38]
Chr6:129824335 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6621C>T (p.Leu2207=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001446319] Chr6:129454202 [GRCh38]
Chr6:129775347 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4395C>T (p.Asp1465=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001409662] Chr6:129342426 [GRCh38]
Chr6:129663571 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.11:g.(?_129612749)_(129622027_?)dup duplication LAMA2-related muscular dystrophy [RCV001377815] Chr6:129612749..129622027 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4523G>C (p.Arg1508Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001381201] Chr6:129349384 [GRCh38]
Chr6:129670529 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9191dup (p.Phe3065fs) duplication LAMA2-related muscular dystrophy [RCV001381209] Chr6:129514574..129514575 [GRCh38]
Chr6:129835719..129835720 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3175-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001440983] Chr6:129312857 [GRCh38]
Chr6:129634002 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001378215] Chr6:129313098 [GRCh38]
Chr6:129634243 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8589A>G (p.Val2863=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399771] Chr6:129505241 [GRCh38]
Chr6:129826386 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5072-539_5098del deletion LAMA2-related muscular dystrophy [RCV001378282] Chr6:129390952..129391517 [GRCh38]
Chr6:129712097..129712662 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3099T>A (p.Pro1033=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001446450] Chr6:129300797 [GRCh38]
Chr6:129621942 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.564A>C (p.Pro188=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001397828] Chr6:129098340 [GRCh38]
Chr6:129419485 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8196G>A (p.Glu2732=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001438681] Chr6:129492435 [GRCh38]
Chr6:129813580 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2520dup (p.Gly841fs) duplication LAMA2-related muscular dystrophy [RCV001381276] Chr6:129280129..129280130 [GRCh38]
Chr6:129601274..129601275 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4437-6A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001430273] Chr6:129349292 [GRCh38]
Chr6:129670437 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5595T>A (p.Pro1865=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001404739] Chr6:129402356 [GRCh38]
Chr6:129723501 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2364T>C (p.Cys788=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001407467] Chr6:129270665 [GRCh38]
Chr6:129591810 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7176G>A (p.Glu2392=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001407478]|not provided [RCV001531020] Chr6:129465165 [GRCh38]
Chr6:129786310 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8169T>A (p.Ala2723=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001437447] Chr6:129492408 [GRCh38]
Chr6:129813553 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3273A>G (p.Thr1091=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001446542] Chr6:129312959 [GRCh38]
Chr6:129634104 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2415A>G (p.Gln805=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001446554] Chr6:129270716 [GRCh38]
Chr6:129591861 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4863C>T (p.His1621=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001449069] Chr6:129369894 [GRCh38]
Chr6:129691039 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3621C>T (p.Thr1207=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436621] Chr6:129315541 [GRCh38]
Chr6:129636686 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7500A>G (p.Glu2500=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001428330] Chr6:129478741 [GRCh38]
Chr6:129799886 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3345C>G (p.Ala1115=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001407644] Chr6:129313031 [GRCh38]
Chr6:129634176 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-10_1468-9del deletion LAMA2-related muscular dystrophy [RCV001435975] Chr6:129190194..129190195 [GRCh38]
Chr6:129511339..129511340 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2042T>A (p.Leu681Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001385009] Chr6:129252241 [GRCh38]
Chr6:129573386 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3300C>A (p.Tyr1100Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001386377] Chr6:129312986 [GRCh38]
Chr6:129634131 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6228C>T (p.Val2076=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001418854] Chr6:129440958 [GRCh38]
Chr6:129762103 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.921T>C (p.Cys307=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001438762] Chr6:129148990 [GRCh38]
Chr6:129470135 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4980T>C (p.Asp1660=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001428983] Chr6:129383142 [GRCh38]
Chr6:129704287 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5961T>C (p.Asp1987=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444120] Chr6:129427847 [GRCh38]
Chr6:129748992 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.516A>G (p.Thr172=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444122] Chr6:129098292 [GRCh38]
Chr6:129419437 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9282C>T (p.Thr3094=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001446697] Chr6:129516260 [GRCh38]
Chr6:129837405 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5247C>A (p.Ala1749=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001449274] Chr6:129393057 [GRCh38]
Chr6:129714202 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001439091] Chr6:129313106 [GRCh38]
Chr6:129634251 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4368T>A (p.Tyr1456Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001380822] Chr6:129342399 [GRCh38]
Chr6:129663544 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7393_7394del (p.Ala2464_Asp2465insTer) deletion LAMA2-related muscular dystrophy [RCV001380832] Chr6:129473305..129473306 [GRCh38]
Chr6:129794450..129794451 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8541del (p.Trp2847fs) deletion LAMA2-related muscular dystrophy [RCV001380862] Chr6:129503273 [GRCh38]
Chr6:129824418 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4074A>G (p.Ser1358=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001401190] Chr6:129320553 [GRCh38]
Chr6:129641698 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.652_653del (p.Leu218fs) deletion LAMA2-related muscular dystrophy [RCV001387548] Chr6:129143912..129143913 [GRCh38]
Chr6:129465057..129465058 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129837325)_(129837502_?)del deletion LAMA2-related muscular dystrophy [RCV001381460] Chr6:129837325..129837502 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129486711)_(129486830_?)del deletion LAMA2-related muscular dystrophy [RCV001381461] Chr6:129486711..129486830 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6957A>T (p.Arg2319=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403593] Chr6:129460289 [GRCh38]
Chr6:129781434 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1140T>C (p.Asn380=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001405120] Chr6:129154617 [GRCh38]
Chr6:129475762 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8688C>T (p.Thr2896=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001407592] Chr6:129505340 [GRCh38]
Chr6:129826485 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4200A>G (p.Arg1400=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001428548] Chr6:129328301 [GRCh38]
Chr6:129649446 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2313A>G (p.Gly771=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001441901] Chr6:129267210 [GRCh38]
Chr6:129588355 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7455A>T (p.Pro2485=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436121] Chr6:129478696 [GRCh38]
Chr6:129799841 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2205T>C (p.Cys735=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436126] Chr6:129260819 [GRCh38]
Chr6:129581964 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.72G>C (p.Arg24=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001401237] Chr6:128883317 [GRCh38]
Chr6:129204462 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8226C>T (p.Pro2742=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001430788] Chr6:129492465 [GRCh38]
Chr6:129813610 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.597C>T (p.Cys199=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001449537] Chr6:129098373 [GRCh38]
Chr6:129419518 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3666_3667insT (p.Leu1223fs) insertion LAMA2-related muscular dystrophy [RCV001381141] Chr6:129315586..129315587 [GRCh38]
Chr6:129636731..129636732 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.321C>T (p.Asn107=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431199] Chr6:129059821 [GRCh38]
Chr6:129380966 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3471C>T (p.Ala1157=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431208] Chr6:129314714 [GRCh38]
Chr6:129635859 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7722T>A (p.Pro2574=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444668] Chr6:129481412 [GRCh38]
Chr6:129802557 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7527C>T (p.Leu2509=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001398217] Chr6:129478768 [GRCh38]
Chr6:129799913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2049A>G (p.Arg683=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399851] Chr6:129252248 [GRCh38]
Chr6:129573393 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2568T>C (p.Ser856=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399859] Chr6:129287877 [GRCh38]
Chr6:129609022 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8553G>A (p.Lys2851=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001401293] Chr6:129505205 [GRCh38]
Chr6:129826350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3465C>T (p.Leu1155=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001403769] Chr6:129314708 [GRCh38]
Chr6:129635853 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2192del (p.Thr731fs) deletion LAMA2-related muscular dystrophy [RCV001390273] Chr6:129260806 [GRCh38]
Chr6:129581951 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9331C>T (p.Leu3111=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001415510] Chr6:129516309 [GRCh38]
Chr6:129837454 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7131G>T (p.Leu2377=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001434264] Chr6:129464428 [GRCh38]
Chr6:129785573 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.108A>G (p.Gln36=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001415611] Chr6:128883353 [GRCh38]
Chr6:129204498 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6964del (p.Glu2322fs) deletion LAMA2-related muscular dystrophy [RCV001388199] Chr6:129460296 [GRCh38]
Chr6:129781441 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2592A>G (p.Pro864=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444818] Chr6:129287901 [GRCh38]
Chr6:129609046 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5072-9C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001447473]|Merosin deficient congenital muscular dystrophy [RCV002506524] Chr6:129391482 [GRCh38]
Chr6:129712627 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4569C>T (p.Ser1523=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001441997] Chr6:129353209 [GRCh38]
Chr6:129674354 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2400C>A (p.Thr800=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001405671] Chr6:129270701 [GRCh38]
Chr6:129591846 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2895T>C (p.Val965=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001397973] Chr6:129297723 [GRCh38]
Chr6:129618868 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3874del (p.Ala1292fs) deletion LAMA2-related muscular dystrophy [RCV001388339] Chr6:129315899 [GRCh38]
Chr6:129637044 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1852G>T (p.Glu618Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001390679]|Merosin deficient congenital muscular dystrophy [RCV003469779] Chr6:129250181 [GRCh38]
Chr6:129571326 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2088C>T (p.Ala696=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001410975] Chr6:129252287 [GRCh38]
Chr6:129573432 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3037+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001377163]|Merosin deficient congenital muscular dystrophy [RCV003469623] Chr6:129297866 [GRCh38]
Chr6:129619011 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8245-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001405759] Chr6:129502652 [GRCh38]
Chr6:129823797 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.747C>T (p.Arg249=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431373] Chr6:129144008 [GRCh38]
Chr6:129465153 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.42C>T (p.Ser14=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444909] Chr6:128883287 [GRCh38]
Chr6:129204432 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8661T>C (p.Val2887=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001444918] Chr6:129505313 [GRCh38]
Chr6:129826458 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3276G>A (p.Glu1092=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001440004] Chr6:129312962 [GRCh38]
Chr6:129634107 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7814del (p.Thr2605fs) deletion LAMA2-related muscular dystrophy [RCV001388499] Chr6:129486538 [GRCh38]
Chr6:129807683 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.640-10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001402582] Chr6:129143891 [GRCh38]
Chr6:129465036 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7008T>C (p.Asp2336=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001447682] Chr6:129464305 [GRCh38]
Chr6:129785450 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6477A>G (p.Lys2159=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001401364] Chr6:129453035 [GRCh38]
Chr6:129774180 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4320A>G (p.Gln1440=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001408730] Chr6:129342351 [GRCh38]
Chr6:129663496 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.357C>A (p.Ile119=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494017] Chr6:129059857 [GRCh38]
Chr6:129381002 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4860+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001377274] Chr6:129366363 [GRCh38]
Chr6:129687508 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3690G>A (p.Leu1230=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001419491] Chr6:129315610 [GRCh38]
Chr6:129636755 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8583T>C (p.Leu2861=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001402649] Chr6:129505235 [GRCh38]
Chr6:129826380 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3027A>G (p.Gly1009=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001440505] Chr6:129297855 [GRCh38]
Chr6:129619000 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1307-9T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001431597] Chr6:129177697 [GRCh38]
Chr6:129498842 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3969T>A (p.Thr1323=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431630] Chr6:129316082 [GRCh38]
Chr6:129637227 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8190G>A (p.Gln2730=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001408553] Chr6:129492429 [GRCh38]
Chr6:129813574 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7119G>A (p.Ser2373=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001408615] Chr6:129464416 [GRCh38]
Chr6:129785561 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7301-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001411178] Chr6:129473210 [GRCh38]
Chr6:129794355 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.910-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001381768] Chr6:129148978 [GRCh38]
Chr6:129470123 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7875C>T (p.Ser2625=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001411387]|not provided [RCV003132496] Chr6:129486599 [GRCh38]
Chr6:129807744 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1206+77T>G single nucleotide variant not provided [RCV001534977] Chr6:129154760 [GRCh38]
Chr6:129475905 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.315A>G (p.Gly105=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001418095] Chr6:129059815 [GRCh38]
Chr6:129380960 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.11:g.(?_129393157)_129465177del deletion LAMA2-related muscular dystrophy [RCV001378768]   likely pathogenic
NM_000426.4(LAMA2):c.3507C>T (p.Phe1169=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001429743] Chr6:129314750 [GRCh38]
Chr6:129635895 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2052C>A (p.Val684=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001435238] Chr6:129252251 [GRCh38]
Chr6:129573396 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2130C>T (p.Ser710=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001427297] Chr6:129260744 [GRCh38]
Chr6:129581889 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8628C>T (p.Ala2876=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001419539] Chr6:129505280 [GRCh38]
Chr6:129826425 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-6C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001404054] Chr6:129312855 [GRCh38]
Chr6:129634000 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7179C>G (p.Leu2393=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001432109] Chr6:129465168 [GRCh38]
Chr6:129786313 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.963C>T (p.Cys321=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001425913] Chr6:129149032 [GRCh38]
Chr6:129470177 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+11_1608+12del deletion LAMA2-related muscular dystrophy [RCV001432191] Chr6:129190355..129190356 [GRCh38]
Chr6:129511500..129511501 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1935A>G (p.Pro645=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001445828] Chr6:129252134 [GRCh38]
Chr6:129573279 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5650A>C (p.Arg1884=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001424451] Chr6:129402411 [GRCh38]
Chr6:129723556 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4929C>T (p.Leu1643=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001424466] Chr6:129369960 [GRCh38]
Chr6:129691105 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7881T>C (p.His2627=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001438285] Chr6:129486605 [GRCh38]
Chr6:129807750 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3700_3701insTTTTTTTTTTNNNNNNNNNNAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGGAACCTTTTT (p.Tyr1234delinsPhePhePheXaaXaaXaaXaaArgMetValSerIleSerTer) insertion LAMA2-related muscular dystrophy [RCV001387941] Chr6:129315609..129315610 [GRCh38]
Chr6:129636754..129636755 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2487A>G (p.Gly829=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001439281] Chr6:129280097 [GRCh38]
Chr6:129601242 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1716G>A (p.Ala572=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001440666] Chr6:129192787 [GRCh38]
Chr6:129513932 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.11:g.(?_129204381)_(129837502_?)del deletion LAMA2-related muscular dystrophy [RCV001389113] Chr6:129204381..129837502 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129712616)_(129712818_?)del deletion LAMA2-related muscular dystrophy [RCV001389114] Chr6:129712616..129712818 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1650C>A (p.Gly550=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001399069] Chr6:129192721 [GRCh38]
Chr6:129513866 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5526C>T (p.Ala1842=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001402024] Chr6:129401304 [GRCh38]
Chr6:129722449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1761G>A (p.Pro587=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001448527] Chr6:129192832 [GRCh38]
Chr6:129513977 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4293T>C (p.Pro1431=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461147] Chr6:129328394 [GRCh38]
Chr6:129649539 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.643C>T (p.His215Tyr) single nucleotide variant not provided [RCV001507674] Chr6:129143904 [GRCh38]
Chr6:129465049 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7356G>A (p.Ser2452=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494813] Chr6:129473269 [GRCh38]
Chr6:129794414 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6177C>T (p.His2059=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494371] Chr6:129440907 [GRCh38]
Chr6:129762052 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8796G>A (p.Gly2932=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001506003] Chr6:129507581 [GRCh38]
Chr6:129828726 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3555+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001485814] Chr6:129314805 [GRCh38]
Chr6:129635950 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+231_909+233dup duplication not provided [RCV001587859] Chr6:129147264..129147265 [GRCh38]
Chr6:129468409..129468410 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-198T>C single nucleotide variant not provided [RCV001587908] Chr6:129270426 [GRCh38]
Chr6:129591571 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-217G>A single nucleotide variant not provided [RCV001590736] Chr6:129478476 [GRCh38]
Chr6:129799621 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-5A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001461762] Chr6:129403816 [GRCh38]
Chr6:129724961 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1068T>C (p.Asp356=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468693] Chr6:129154545 [GRCh38]
Chr6:129475690 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8619C>T (p.Pro2873=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001485985] Chr6:129505271 [GRCh38]
Chr6:129826416 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.408C>G (p.Ile136Met) single nucleotide variant not provided [RCV001508201] Chr6:129098184 [GRCh38]
Chr6:129419329 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3120A>G (p.Lys1040=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001450393] Chr6:129300818 [GRCh38]
Chr6:129621963 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4960-9G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001502088] Chr6:129383113 [GRCh38]
Chr6:129704258 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2112C>T (p.Asn704=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001481907] Chr6:129260726 [GRCh38]
Chr6:129581871 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7129C>T (p.Leu2377=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451127] Chr6:129464426 [GRCh38]
Chr6:129785571 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001502758] Chr6:129144089 [GRCh38]
Chr6:129465234 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8356C>T (p.Arg2786Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002564279]|not provided [RCV001509290] Chr6:129502770 [GRCh38]
Chr6:129823915 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2931C>T (p.Phe977=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458193] Chr6:129297759 [GRCh38]
Chr6:129618904 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5319G>T (p.Arg1773=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001486172] Chr6:129393129 [GRCh38]
Chr6:129714274 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6675T>C (p.Asp2225=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001473456] Chr6:129454256 [GRCh38]
Chr6:129775401 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2571A>G (p.Val857=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001450647] Chr6:129287880 [GRCh38]
Chr6:129609025 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5409A>G (p.Leu1803=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001499308]|not provided [RCV003426159] Chr6:129393219 [GRCh38]
Chr6:129714364 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7041T>C (p.Gly2347=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001457628] Chr6:129464338 [GRCh38]
Chr6:129785483 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+133ATT[9] microsatellite not provided [RCV001583973] Chr6:129144212..129144213 [GRCh38]
Chr6:129465357..129465358 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-261G>C single nucleotide variant not provided [RCV001666821] Chr6:129314394 [GRCh38]
Chr6:129635539 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7156-9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001499571] Chr6:129465136 [GRCh38]
Chr6:129786281 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8271A>G (p.Pro2757=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458082] Chr6:129502685 [GRCh38]
Chr6:129823830 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4641G>T (p.Thr1547=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451334] Chr6:129353281 [GRCh38]
Chr6:129674426 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4935C>T (p.Thr1645=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001506597] Chr6:129369966 [GRCh38]
Chr6:129691111 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.477T>C (p.Asp159=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001499393] Chr6:129098253 [GRCh38]
Chr6:129419398 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7898+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001479649] Chr6:129486629 [GRCh38]
Chr6:129807774 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3513T>G (p.Thr1171=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451365] Chr6:129314756 [GRCh38]
Chr6:129635901 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.18G>A (p.Gly6=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001499575] Chr6:128883263 [GRCh38]
Chr6:129204408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4611G>A (p.Val1537=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001454958] Chr6:129353251 [GRCh38]
Chr6:129674396 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1017T>C (p.Thr339=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458070] Chr6:129149086 [GRCh38]
Chr6:129470231 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3468T>C (p.Asp1156=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001476423] Chr6:129314711 [GRCh38]
Chr6:129635856 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6531T>A (p.Ala2177=) single nucleotide variant LAMA2-related condition [RCV003965988]|LAMA2-related muscular dystrophy [RCV001486701] Chr6:129453089 [GRCh38]
Chr6:129774234 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6574-216T>A single nucleotide variant not provided [RCV001643519] Chr6:129453939 [GRCh38]
Chr6:129775084 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8943T>C (p.Ser2981=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001476092] Chr6:129512448 [GRCh38]
Chr6:129833593 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001459238] Chr6:129403814 [GRCh38]
Chr6:129724959 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3231C>G (p.Gly1077=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001455254] Chr6:129312917 [GRCh38]
Chr6:129634062 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7451+112T>C single nucleotide variant not provided [RCV001536387] Chr6:129475513 [GRCh38]
Chr6:129796658 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5595T>C (p.Pro1865=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001476938] Chr6:129402356 [GRCh38]
Chr6:129723501 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7122T>C (p.Ser2374=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001462847] Chr6:129464419 [GRCh38]
Chr6:129785564 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2001T>C (p.Phe667=) single nucleotide variant LAMA2-related condition [RCV003956052]|LAMA2-related muscular dystrophy [RCV001476829] Chr6:129252200 [GRCh38]
Chr6:129573345 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001469868] Chr6:129313105 [GRCh38]
Chr6:129634250 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7573-295_7573-294del deletion not provided [RCV001713517] Chr6:129480967..129480968 [GRCh38]
Chr6:129802112..129802113 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1230A>T (p.Pro410=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001462664] Chr6:129165599 [GRCh38]
Chr6:129486744 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4650T>A (p.Pro1550=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001480026]|not provided [RCV001762695] Chr6:129353290 [GRCh38]
Chr6:129674435 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3306C>T (p.Arg1102=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001477187] Chr6:129312992 [GRCh38]
Chr6:129634137 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4977A>G (p.Ala1659=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001455860] Chr6:129383139 [GRCh38]
Chr6:129704284 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+3764A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001521887] Chr6:129283911 [GRCh38]
Chr6:129605056 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5256A>G (p.Lys1752=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001470293] Chr6:129393066 [GRCh38]
Chr6:129714211 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1452C>T (p.Gly484=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001500345] Chr6:129177851 [GRCh38]
Chr6:129498996 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-85T>C single nucleotide variant not provided [RCV001539255] Chr6:129250027 [GRCh38]
Chr6:129571172 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7995T>G (p.Ala2665=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001460118] Chr6:129491997 [GRCh38]
Chr6:129813142 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8919G>A (p.Thr2973=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001497669] Chr6:129512424 [GRCh38]
Chr6:129833569 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.879C>T (p.Ala293=) single nucleotide variant LAMA2-related condition [RCV003980455]|LAMA2-related muscular dystrophy [RCV001504185] Chr6:129147018 [GRCh38]
Chr6:129468163 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4500A>T (p.Gly1500=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001500683] Chr6:129349361 [GRCh38]
Chr6:129670506 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5664G>A (p.Glu1888=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001480483] Chr6:129402425 [GRCh38]
Chr6:129723570 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4312-8del deletion LAMA2-related muscular dystrophy [RCV001453032] Chr6:129342334 [GRCh38]
Chr6:129663479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7068C>T (p.Arg2356=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001497772] Chr6:129464365 [GRCh38]
Chr6:129785510 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9144C>G (p.Ala3048=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001460265] Chr6:129514528 [GRCh38]
Chr6:129835673 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7953T>G (p.Val2651=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001477702] Chr6:129491955 [GRCh38]
Chr6:129813100 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8238G>A (p.Leu2746=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453142] Chr6:129492477 [GRCh38]
Chr6:129813622 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.897T>C (p.Asp299=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001480740] Chr6:129147036 [GRCh38]
Chr6:129468181 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1041T>C (p.His347=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001456261] Chr6:129154518 [GRCh38]
Chr6:129475663 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001466735] Chr6:129280053 [GRCh38]
Chr6:129601198 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6159A>T (p.Ala2053=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001504255] Chr6:129440889 [GRCh38]
Chr6:129762034 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9165T>C (p.Ser3055=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001497723] Chr6:129514549 [GRCh38]
Chr6:129835694 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2409C>T (p.Asp803=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001497938] Chr6:129270710 [GRCh38]
Chr6:129591855 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5358T>C (p.Ala1786=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001466969] Chr6:129393168 [GRCh38]
Chr6:129714313 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.85C>A (p.Arg29=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001488507]|not provided [RCV003434275] Chr6:128883330 [GRCh38]
Chr6:129204475 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7797C>T (p.Leu2599=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001488509] Chr6:129486521 [GRCh38]
Chr6:129807666 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4717+255G>T single nucleotide variant not provided [RCV001609679] Chr6:129353612 [GRCh38]
Chr6:129674757 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.113-88A>G single nucleotide variant not provided [RCV001674325] Chr6:129049830 [GRCh38]
Chr6:129370975 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.5950T>C (p.Leu1984=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001463728] Chr6:129427836 [GRCh38]
Chr6:129748981 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6867+133G>A single nucleotide variant not provided [RCV001590374] Chr6:129456627 [GRCh38]
Chr6:129777772 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7155+9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001464053] Chr6:129464461 [GRCh38]
Chr6:129785606 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3988T>C (p.Leu1330=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001485257] Chr6:129316101 [GRCh38]
Chr6:129637246 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5880G>A (p.Arg1960=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001501257] Chr6:129427766 [GRCh38]
Chr6:129748911 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4884C>T (p.Ala1628=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001501475] Chr6:129369915 [GRCh38]
Chr6:129691060 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4368T>C (p.Tyr1456=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461267] Chr6:129342399 [GRCh38]
Chr6:129663544 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4717+106dup duplication not provided [RCV001654607] Chr6:129353448..129353449 [GRCh38]
Chr6:129674593..129674594 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7071G>A (p.Trp2357Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003574882]|not provided [RCV001592431] Chr6:129464368 [GRCh38]
Chr6:129785513 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9171A>G (p.Ser3057=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001489385] Chr6:129514555 [GRCh38]
Chr6:129835700 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001460944] Chr6:129512359 [GRCh38]
Chr6:129833504 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6811C>T (p.Leu2271=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453874] Chr6:129456438 [GRCh38]
Chr6:129777583 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4718-5C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001501525] Chr6:129366214 [GRCh38]
Chr6:129687359 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+233dup duplication not provided [RCV001725110] Chr6:129147264..129147265 [GRCh38]
Chr6:129468409..129468410 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1353G>C (p.Val451=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001481701] Chr6:129177752 [GRCh38]
Chr6:129498897 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4155C>T (p.Gly1385=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001472560] Chr6:129320634 [GRCh38]
Chr6:129641779 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-145_9212-143dup duplication not provided [RCV001539704] Chr6:129516042..129516043 [GRCh38]
Chr6:129837187..129837188 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9057T>C (p.His3019=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431131] Chr6:129514441 [GRCh38]
Chr6:129835586 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4236A>T (p.Pro1412=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001431180] Chr6:129328337 [GRCh38]
Chr6:129649482 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5958T>C (p.Asn1986=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001442040] Chr6:129427844 [GRCh38]
Chr6:129748989 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6274+9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001450709] Chr6:129443077 [GRCh38]
Chr6:129764222 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5292A>G (p.Glu1764=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001464023] Chr6:129393102 [GRCh38]
Chr6:129714247 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6741C>G (p.Ala2247=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468465] Chr6:129456368 [GRCh38]
Chr6:129777513 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1458T>C (p.Cys486=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001468495] Chr6:129177857 [GRCh38]
Chr6:129499002 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1905C>T (p.Ser635=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001495144] Chr6:129252104 [GRCh38]
Chr6:129573249 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2500G>T (p.Gly834Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001381082] Chr6:129280110 [GRCh38]
Chr6:129601255 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2538-8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001442259] Chr6:129287839 [GRCh38]
Chr6:129608984 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5148G>A (p.Gly1716=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001473231] Chr6:129391567 [GRCh38]
Chr6:129712712 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3396G>A (p.Gly1132=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001495847] Chr6:129313082 [GRCh38]
Chr6:129634227 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6777A>G (p.Thr2259=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001497794] Chr6:129456404 [GRCh38]
Chr6:129777549 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7750-4G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001456966] Chr6:129486470 [GRCh38]
Chr6:129807615 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+10A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001482919] Chr6:129453141 [GRCh38]
Chr6:129774286 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6030G>C (p.Gly2010=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001484484] Chr6:129438707 [GRCh38]
Chr6:129759852 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9318C>T (p.Ala3106=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001490937] Chr6:129516296 [GRCh38]
Chr6:129837441 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7040G>A (p.Gly2347Asp) single nucleotide variant not provided [RCV001509283] Chr6:129464337 [GRCh38]
Chr6:129785482 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2997T>C (p.Cys999=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458284] Chr6:129297825 [GRCh38]
Chr6:129618970 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7440-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001379914] Chr6:129475388 [GRCh38]
Chr6:129796533 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.495C>G (p.Pro165=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001453649] Chr6:129098271 [GRCh38]
Chr6:129419416 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7191C>T (p.His2397=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001442453] Chr6:129465180 [GRCh38]
Chr6:129786325 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2499T>C (p.Asp833=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001495966] Chr6:129280109 [GRCh38]
Chr6:129601254 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7170T>C (p.Ser2390=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458545] Chr6:129465159 [GRCh38]
Chr6:129786304 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2190T>C (p.Tyr730=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001477832] Chr6:129260804 [GRCh38]
Chr6:129581949 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.567G>A (p.Pro189=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001477912] Chr6:129098343 [GRCh38]
Chr6:129419488 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-4G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001455502] Chr6:129460196 [GRCh38]
Chr6:129781341 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2511C>T (p.Val837=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001455532] Chr6:129280121 [GRCh38]
Chr6:129601266 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3556-7del deletion LAMA2-related muscular dystrophy [RCV001519485] Chr6:129315466 [GRCh38]
Chr6:129636611 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2187G>A (p.Gly729=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001482968] Chr6:129260801 [GRCh38]
Chr6:129581946 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3078G>A (p.Lys1026=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001484540] Chr6:129300776 [GRCh38]
Chr6:129621921 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4341C>T (p.Phe1447=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001496032] Chr6:129342372 [GRCh38]
Chr6:129663517 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5157A>G (p.Lys1719=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001459625] Chr6:129391576 [GRCh38]
Chr6:129712721 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2052C>T (p.Val684=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001458644] Chr6:129252251 [GRCh38]
Chr6:129573396 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4176+10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001464924] Chr6:129320665 [GRCh38]
Chr6:129641810 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3912T>A (p.Ile1304=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001486548] Chr6:129315938 [GRCh38]
Chr6:129637083 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2058A>G (p.Leu686=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001491410] Chr6:129252257 [GRCh38]
Chr6:129573402 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001474322] Chr6:129516181 [GRCh38]
Chr6:129837326 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.501G>A (p.Gln167=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001451574] Chr6:129098277 [GRCh38]
Chr6:129419422 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.474T>G (p.Leu158=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461323] Chr6:129098250 [GRCh38]
Chr6:129419395 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4302G>A (p.Ser1434=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461338] Chr6:129328403 [GRCh38]
Chr6:129649548 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1686C>T (p.Asp562=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001496343] Chr6:129192757 [GRCh38]
Chr6:129513902 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3486C>T (p.Gly1162=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001481812] Chr6:129314729 [GRCh38]
Chr6:129635874 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.834C>T (p.Val278=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001502552] Chr6:129146973 [GRCh38]
Chr6:129468118 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6168A>G (p.Thr2056=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001465899] Chr6:129440898 [GRCh38]
Chr6:129762043 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.906A>G (p.Thr302=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001432051] Chr6:129147045 [GRCh38]
Chr6:129468190 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3066T>C (p.Asn1022=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001460998] Chr6:129300764 [GRCh38]
Chr6:129621909 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7104C>T (p.Phe2368=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001480321] Chr6:129464401 [GRCh38]
Chr6:129785546 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.690A>G (p.Pro230=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001463084] Chr6:129143951 [GRCh38]
Chr6:129465096 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8397C>T (p.Ser2799=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001457308] Chr6:129503130 [GRCh38]
Chr6:129824275 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001481939] Chr6:129270617 [GRCh38]
Chr6:129591762 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2514G>A (p.Gly838=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001425421] Chr6:129280124 [GRCh38]
Chr6:129601269 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.283+10T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001453098] Chr6:129050098 [GRCh38]
Chr6:129371243 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5283C>T (p.Ser1761=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001477873] Chr6:129393093 [GRCh38]
Chr6:129714238 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7683C>A (p.Gly2561=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001454450] Chr6:129481373 [GRCh38]
Chr6:129802518 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9066T>C (p.Asp3022=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001406553] Chr6:129514450 [GRCh38]
Chr6:129835595 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1545C>T (p.Cys515=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001443213] Chr6:129190282 [GRCh38]
Chr6:129511427 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8748A>C (p.Ala2916=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001423402] Chr6:129507533 [GRCh38]
Chr6:129828678 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4806G>T (p.Leu1602=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001483362]|not provided [RCV001555957] Chr6:129366307 [GRCh38]
Chr6:129687452 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7608T>C (p.Phe2536=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436575] Chr6:129481298 [GRCh38]
Chr6:129802443 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1377C>A (p.Gly459=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001479225] Chr6:129177776 [GRCh38]
Chr6:129498921 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-5T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001440661] Chr6:129512358 [GRCh38]
Chr6:129833503 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+9G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001476531] Chr6:129190354 [GRCh38]
Chr6:129511499 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2673A>C (p.Pro891=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001397829] Chr6:129287982 [GRCh38]
Chr6:129609127 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3654T>A (p.Val1218=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001436997] Chr6:129315574 [GRCh38]
Chr6:129636719 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4854G>A (p.Glu1618=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001426038] Chr6:129366355 [GRCh38]
Chr6:129687500 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2151T>A (p.Ile717=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001452121] Chr6:129260765 [GRCh38]
Chr6:129581910 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.534G>A (p.Thr178=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001461738] Chr6:129098310 [GRCh38]
Chr6:129419455 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3285A>G (p.Arg1095=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001424001] Chr6:129312971 [GRCh38]
Chr6:129634116 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5795_5804del (p.Lys1932fs) deletion LAMA2-related muscular dystrophy [RCV001380526] Chr6:129403889..129403898 [GRCh38]
Chr6:129725034..129725043 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8919G>T (p.Thr2973=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001425869] Chr6:129512424 [GRCh38]
Chr6:129833569 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1617T>C (p.Asp539=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001430287] Chr6:129192688 [GRCh38]
Chr6:129513833 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.639+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001404766] Chr6:129098422 [GRCh38]
Chr6:129419567 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4794C>A (p.Leu1598=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001393759] Chr6:129366295 [GRCh38]
Chr6:129687440 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001437080] Chr6:129403966 [GRCh38]
Chr6:129725111 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2874A>G (p.Leu958=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001483824] Chr6:129297702 [GRCh38]
Chr6:129618847 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8079C>G (p.Pro2693=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001416381] Chr6:129492318 [GRCh38]
Chr6:129813463 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5937C>T (p.Asn1979=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001426503] Chr6:129427823 [GRCh38]
Chr6:129748968 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.306T>A (p.Ala102=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001430539] Chr6:129059806 [GRCh38]
Chr6:129380951 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.492G>A (p.Lys164=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001407324] Chr6:129098268 [GRCh38]
Chr6:129419413 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6789G>A (p.Thr2263=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001494329] Chr6:129456416 [GRCh38]
Chr6:129777561 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001501100] Chr6:129190354 [GRCh38]
Chr6:129511499 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001418514] Chr6:129315757 [GRCh38]
Chr6:129636902 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6894A>G (p.Thr2298=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001416704] Chr6:129460226 [GRCh38]
Chr6:129781371 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2463G>A (p.Thr821=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001426603] Chr6:129280073 [GRCh38]
Chr6:129601218 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3975C>G (p.Thr1325=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001441463] Chr6:129316088 [GRCh38]
Chr6:129637233 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4996C>T (p.Gln1666Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581794]|Merosin deficient congenital muscular dystrophy [RCV001527673] Chr6:129383158 [GRCh38]
Chr6:129704303 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7857T>C (p.His2619=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001497173] Chr6:129486581 [GRCh38]
Chr6:129807726 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001452520] Chr6:129460191 [GRCh38]
Chr6:129781336 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4914C>A (p.Gly1638=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001462138] Chr6:129369945 [GRCh38]
Chr6:129691090 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8358-9del deletion LAMA2-related muscular dystrophy [RCV001418665] Chr6:129503082 [GRCh38]
Chr6:129824227 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8857+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001379341] Chr6:129507643 [GRCh38]
Chr6:129828788 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6275-9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001466687] Chr6:129445658 [GRCh38]
Chr6:129766803 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001377445] Chr6:129403819 [GRCh38]
Chr6:129724964 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1824T>G (p.Tyr608Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001384393] Chr6:129250153 [GRCh38]
Chr6:129571298 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8961A>C (p.Gly2987=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001463828] Chr6:129512466 [GRCh38]
Chr6:129833611 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001482519] Chr6:129512501 [GRCh38]
Chr6:129833646 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1113G>A (p.Lys371=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001504323] Chr6:129154590 [GRCh38]
Chr6:129475735 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.11:g.(?_129660158)_129663613dup duplication LAMA2-related muscular dystrophy [RCV001377814]   likely pathogenic
NM_000426.4(LAMA2):c.2727A>G (p.Ala909=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001427085] Chr6:129288036 [GRCh38]
Chr6:129609181 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5692G>T (p.Ala1898Ser) single nucleotide variant Inborn genetic diseases [RCV002568865]|LAMA2-related muscular dystrophy [RCV001873733]|not provided [RCV001528311] Chr6:129402453 [GRCh38]
Chr6:129723598 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129380919)_(129514008_?)dup duplication LAMA2-related muscular dystrophy [RCV001377816] Chr6:129380919..129514008 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5739G>A (p.Glu1913=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001502757] Chr6:129403833 [GRCh38]
Chr6:129724978 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+9A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001484182] Chr6:129280156 [GRCh38]
Chr6:129601301 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3330C>G (p.Leu1110=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001484234] Chr6:129313016 [GRCh38]
Chr6:129634161 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5652G>A (p.Arg1884=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003120655]|not provided [RCV001727379] Chr6:129402413 [GRCh38]
Chr6:129723558 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3938del (p.Tyr1313fs) deletion Merosin deficient congenital muscular dystrophy [RCV001725870] Chr6:129316051 [GRCh38]
Chr6:129637196 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6617del (p.Phe2206fs) deletion LAMA2-related muscular dystrophy [RCV003094058]|not provided [RCV002247158] Chr6:129454197 [GRCh38]
Chr6:129775342 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.70C>G (p.Arg24Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001882815]|not provided [RCV001756333] Chr6:128883315 [GRCh38]
Chr6:129204460 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8989-15T>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002254242] Chr6:129514358 [GRCh38]
Chr6:129835503 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.639+14A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003108329] Chr6:129098429 [GRCh38]
Chr6:129419574 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8570A>G (p.Gln2857Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003093899]|Merosin deficient congenital muscular dystrophy [RCV002227663]|not provided [RCV003491054] Chr6:129505222 [GRCh38]
Chr6:129826367 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3403A>C (p.Thr1135Pro) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002477904]|not provided [RCV001727378] Chr6:129313089 [GRCh38]
Chr6:129634234 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4058+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002543894]|Merosin deficient congenital muscular dystrophy [RCV001725871]|not provided [RCV001780436] Chr6:129316172 [GRCh38]
Chr6:129637317 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5290del (p.Glu1764fs) deletion not provided [RCV001782365] Chr6:129393095 [GRCh38]
Chr6:129714240 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7572+2T>C single nucleotide variant not provided [RCV001782367] Chr6:129478815 [GRCh38]
Chr6:129799960 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7190A>C (p.His2397Pro) single nucleotide variant Inborn genetic diseases [RCV003242004] Chr6:129465179 [GRCh38]
Chr6:129786324 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs) deletion LAMA2-related muscular dystrophy [RCV002034599]|not provided [RCV001782363] Chr6:129481356 [GRCh38]
Chr6:129802501 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3925-2A>G single nucleotide variant not provided [RCV001782368] Chr6:129316036 [GRCh38]
Chr6:129637181 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6323_6335del (p.Arg2108fs) deletion not provided [RCV001783537] Chr6:129445715..129445727 [GRCh38]
Chr6:129766860..129766872 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3778G>A (p.Glu1260Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002538821]|not provided [RCV001763134] Chr6:129315804 [GRCh38]
Chr6:129636949 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3932G>A (p.Trp1311Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002034568]|not provided [RCV001783528] Chr6:129316045 [GRCh38]
Chr6:129637190 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5532T>A (p.Arg1844=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002104368] Chr6:129401310 [GRCh38]
Chr6:129722455 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5820del (p.Val1941fs) deletion See cases [RCV002252937] Chr6:129403912 [GRCh38]
Chr6:129725057 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6129_6139dup (p.Thr2047fs) duplication LAMA2-related muscular dystrophy [RCV002034600]|not provided [RCV001782364] Chr6:129440854..129440855 [GRCh38]
Chr6:129761999..129762000 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8805del (p.Phe2935fs) deletion not provided [RCV001783524] Chr6:129507587 [GRCh38]
Chr6:129828732 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8553_8557del (p.Lys2851fs) deletion not provided [RCV001783525] Chr6:129505202..129505206 [GRCh38]
Chr6:129826347..129826351 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.354_355dup (p.Ile119fs) duplication not provided [RCV001783533] Chr6:129059853..129059854 [GRCh38]
Chr6:129380998..129380999 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4708G>T (p.Glu1570Ter) single nucleotide variant not provided [RCV001783539] Chr6:129353348 [GRCh38]
Chr6:129674493 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5105del (p.Thr1702fs) deletion not provided [RCV001783538] Chr6:129391524 [GRCh38]
Chr6:129712669 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5741C>G (p.Ala1914Gly) single nucleotide variant not provided [RCV001773015] Chr6:129403835 [GRCh38]
Chr6:129724980 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8879dup (p.Leu2960fs) duplication not provided [RCV001783529] Chr6:129512382..129512383 [GRCh38]
Chr6:129833527..129833528 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.442C>T (p.Arg148Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002032741]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV001733795] Chr6:129098218 [GRCh38]
Chr6:129419363 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4745T>C (p.Leu1582Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001868450]|not provided [RCV001765775] Chr6:129366246 [GRCh38]
Chr6:129687391 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.335G>A (p.Ser112Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002538855]|not provided [RCV001765797] Chr6:129059835 [GRCh38]
Chr6:129380980 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6500A>G (p.Tyr2167Cys) single nucleotide variant not provided [RCV001751819] Chr6:129453058 [GRCh38]
Chr6:129774203 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8299G>A (p.Gly2767Arg) single nucleotide variant not provided [RCV001751820] Chr6:129502713 [GRCh38]
Chr6:129823858 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2227A>G (p.Arg743Gly) single nucleotide variant not provided [RCV001774745] Chr6:129267124 [GRCh38]
Chr6:129588269 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8759C>T (p.Ala2920Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001882858]|not provided [RCV001766882] Chr6:129507544 [GRCh38]
Chr6:129828689 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.908A>C (p.Asn303Thr) single nucleotide variant not provided [RCV001752170] Chr6:129147047 [GRCh38]
Chr6:129468192 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1235A>G (p.Gln412Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002032804]|not provided [RCV001752171] Chr6:129165604 [GRCh38]
Chr6:129486749 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6714_6722del (p.Arg2239_Gly2241del) deletion Merosin deficient congenital muscular dystrophy [RCV001775248] Chr6:129456338..129456346 [GRCh38]
Chr6:129777483..129777491 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5404C>T (p.Arg1802Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002544086]|not provided [RCV001767771] Chr6:129393214 [GRCh38]
Chr6:129714359 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1916A>T (p.Asp639Val) single nucleotide variant not provided [RCV001767830] Chr6:129252115 [GRCh38]
Chr6:129573260 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.898C>T (p.Pro300Ser) single nucleotide variant not provided [RCV001774138] Chr6:129147037 [GRCh38]
Chr6:129468182 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9217C>T (p.Leu3073Phe) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002477968]|not provided [RCV001752449] Chr6:129516195 [GRCh38]
Chr6:129837340 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7139T>G (p.Leu2380Arg) single nucleotide variant not provided [RCV001765355] Chr6:129464436 [GRCh38]
Chr6:129785581 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4595A>G (p.Tyr1532Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001885064]|not provided [RCV001765816] Chr6:129353235 [GRCh38]
Chr6:129674380 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3547C>T (p.Arg1183Trp) single nucleotide variant not provided [RCV001770740] Chr6:129314790 [GRCh38]
Chr6:129635935 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001782366] Chr6:128883246 [GRCh38]
Chr6:129204391 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3832G>T (p.Gly1278Cys) single nucleotide variant not specified [RCV001779551] Chr6:129315858 [GRCh38]
Chr6:129637003 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3593_3605del (p.Val1198fs) deletion not provided [RCV001783526] Chr6:129315513..129315525 [GRCh38]
Chr6:129636658..129636670 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5962_5963delinsTG (p.Val1988Ter) indel LAMA2-related muscular dystrophy [RCV003848725] Chr6:129427848..129427849 [GRCh38]
Chr6:129748993..129748994 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.442dup (p.Arg148fs) duplication LAMA2-related muscular dystrophy [RCV002544247]|Merosin deficient congenital muscular dystrophy [RCV003470906]|not provided [RCV001783527] Chr6:129098212..129098213 [GRCh38]
Chr6:129419357..129419358 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6310C>T (p.Gln2104Ter) single nucleotide variant not provided [RCV001783532] Chr6:129445702 [GRCh38]
Chr6:129766847 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7825dup (p.Ile2609fs) duplication not provided [RCV001783534] Chr6:129486545..129486546 [GRCh38]
Chr6:129807690..129807691 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.639+2T>A single nucleotide variant not provided [RCV001783535] Chr6:129098417 [GRCh38]
Chr6:129419562 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2595C>A (p.Cys865Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003574884]|not provided [RCV001783540] Chr6:129287904 [GRCh38]
Chr6:129609049 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8261A>G (p.Glu2754Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002032777]|not provided [RCV001756708] Chr6:129502675 [GRCh38]
Chr6:129823820 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3292T>C (p.Trp1098Arg) single nucleotide variant not provided [RCV001758741] Chr6:129312978 [GRCh38]
Chr6:129634123 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1782+3_1782+6del microsatellite not provided [RCV001754279] Chr6:129192852..129192855 [GRCh38]
Chr6:129513997..129514000 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6548T>G (p.Leu2183Arg) single nucleotide variant Abnormality of the musculature [RCV001814466] Chr6:129453106 [GRCh38]
Chr6:129774251 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.9069_9075dup (p.His3026fs) duplication Abnormality of the musculature [RCV001814473] Chr6:129514448..129514449 [GRCh38]
Chr6:129835593..129835594 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6430-2A>G single nucleotide variant Abnormality of the musculature [RCV001814344]|LAMA2-related muscular dystrophy [RCV003574880] Chr6:129452986 [GRCh38]
Chr6:129774131 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4318C>T (p.Gln1440Ter) single nucleotide variant Abnormality of the musculature [RCV001814464] Chr6:129342349 [GRCh38]
Chr6:129663494 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1282_1283dup (p.Asp429fs) duplication Merosin deficient congenital muscular dystrophy [RCV001805748] Chr6:129165650..129165651 [GRCh38]
Chr6:129486795..129486796 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.-3A>G single nucleotide variant not specified [RCV001819226] Chr6:128883243 [GRCh38]
Chr6:129204388 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8245-1G>C single nucleotide variant not provided [RCV001816441] Chr6:129502658 [GRCh38]
Chr6:129823803 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4933A>G (p.Thr1645Ala) single nucleotide variant not specified [RCV001817436] Chr6:129369964 [GRCh38]
Chr6:129691109 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5085dup (p.Ala1696fs) duplication LAMA2-related muscular dystrophy [RCV003574887]|Merosin deficient congenital muscular dystrophy [RCV001808285] Chr6:129391499..129391500 [GRCh38]
Chr6:129712644..129712645 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3555+5G>A single nucleotide variant not provided [RCV001806651] Chr6:129314803 [GRCh38]
Chr6:129635948 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4818T>G (p.Tyr1606Ter) single nucleotide variant Abnormality of the musculature [RCV001814533] Chr6:129366319 [GRCh38]
Chr6:129687464 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1861C>T (p.Leu621Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001889323] Chr6:129250190 [GRCh38]
Chr6:129571335 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.250C>T (p.Arg84Ter) single nucleotide variant Abnormality of the musculature [RCV001814340]|LAMA2-related muscular dystrophy [RCV002568237]|Merosin deficient congenital muscular dystrophy [RCV003470856] Chr6:129050055 [GRCh38]
Chr6:129371200 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4255_4258dup (p.Cys1420fs) duplication Abnormality of the musculature [RCV001814495]|Merosin deficient congenital muscular dystrophy [RCV003463047] Chr6:129328354..129328355 [GRCh38]
Chr6:129649499..129649500 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.172T>C (p.Cys58Arg) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001808128] Chr6:129049977 [GRCh38]
Chr6:129371122 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7375G>A (p.Gly2459Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001964194] Chr6:129473288 [GRCh38]
Chr6:129794433 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5012C>G (p.Thr1671Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001948700]|not provided [RCV002261428] Chr6:129383174 [GRCh38]
Chr6:129704319 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4758G>A (p.Leu1586=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001863948] Chr6:129366259 [GRCh38]
Chr6:129687404 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1855C>A (p.Arg619Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002045454] Chr6:129250184 [GRCh38]
Chr6:129571329 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.942T>A (p.Cys314Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001895793] Chr6:129149011 [GRCh38]
Chr6:129470156 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129722349)_(129723652_?)del deletion LAMA2-related muscular dystrophy [RCV001949661] Chr6:129722349..129723652 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8098G>A (p.Val2700Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001986931] Chr6:129492337 [GRCh38]
Chr6:129813482 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6833T>A (p.Met2278Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002009204] Chr6:129456460 [GRCh38]
Chr6:129777605 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5302A>G (p.Met1768Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001896951] Chr6:129393112 [GRCh38]
Chr6:129714257 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.176G>A (p.Gly59Glu) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001823681] Chr6:129049981 [GRCh38]
Chr6:129371126 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4821A>C (p.Lys1607Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002041962] Chr6:129366322 [GRCh38]
Chr6:129687467 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4840A>G (p.Asn1614Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001971094] Chr6:129366341 [GRCh38]
Chr6:129687486 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6634T>G (p.Ser2212Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001864589] Chr6:129454215 [GRCh38]
Chr6:129775360 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8125C>T (p.Arg2709Cys) single nucleotide variant Inborn genetic diseases [RCV002562951]|LAMA2-related muscular dystrophy [RCV001987676] Chr6:129492364 [GRCh38]
Chr6:129813509 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6455G>A (p.Gly2152Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001967965]|not provided [RCV003134279] Chr6:129453013 [GRCh38]
Chr6:129774158 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.302A>G (p.Asn101Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002008944] Chr6:129059802 [GRCh38]
Chr6:129380947 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7966G>T (p.Glu2656Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001872860] Chr6:129491968 [GRCh38]
Chr6:129813113 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5268G>T (p.Lys1756Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001889407] Chr6:129393078 [GRCh38]
Chr6:129714223 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1783-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001964332] Chr6:129250111 [GRCh38]
Chr6:129571256 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7694T>C (p.Leu2565Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001911800] Chr6:129481384 [GRCh38]
Chr6:129802529 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33(chr6:129254621-129309720)x1 copy number loss not provided [RCV001827696] Chr6:129254621..129309720 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3886_3889del (p.Ile1296fs) deletion LAMA2-related muscular dystrophy [RCV001970115]|Merosin deficient congenital muscular dystrophy [RCV002250789] Chr6:129315910..129315913 [GRCh38]
Chr6:129637055..129637058 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8734A>G (p.Asn2912Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001895288] Chr6:129507519 [GRCh38]
Chr6:129828664 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8168C>G (p.Ala2723Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001874190] Chr6:129492407 [GRCh38]
Chr6:129813552 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6136G>A (p.Asp2046Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002045190] Chr6:129440866 [GRCh38]
Chr6:129762011 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4792C>T (p.Leu1598Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001929785] Chr6:129366293 [GRCh38]
Chr6:129687438 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1306+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001910475] Chr6:129165680 [GRCh38]
Chr6:129486825 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8234T>G (p.Val2745Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001950290] Chr6:129492473 [GRCh38]
Chr6:129813618 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9142G>A (p.Ala3048Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001890045]|not provided [RCV003130571] Chr6:129514526 [GRCh38]
Chr6:129835671 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.928G>A (p.Glu310Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001987342] Chr6:129148997 [GRCh38]
Chr6:129470142 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2221A>G (p.Arg741Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002024901] Chr6:129267118 [GRCh38]
Chr6:129588263 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8378_8381del (p.Val2793fs) deletion LAMA2-related muscular dystrophy [RCV001874587] Chr6:129503108..129503111 [GRCh38]
Chr6:129824253..129824256 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2166A>T (p.Glu722Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001890193] Chr6:129260780 [GRCh38]
Chr6:129581925 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4630G>T (p.Gly1544Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002052175] Chr6:129353270 [GRCh38]
Chr6:129674415 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3037+5G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001896489] Chr6:129297870 [GRCh38]
Chr6:129619015 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1082G>T (p.Arg361Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002007927] Chr6:129154559 [GRCh38]
Chr6:129475704 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5235-10G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001915282] Chr6:129393035 [GRCh38]
Chr6:129714180 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.994G>A (p.Ala332Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002007097] Chr6:129149063 [GRCh38]
Chr6:129470208 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3590T>C (p.Leu1197Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001970370] Chr6:129315510 [GRCh38]
Chr6:129636655 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2032C>T (p.Leu678Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001895915] Chr6:129252231 [GRCh38]
Chr6:129573376 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3746A>T (p.Tyr1249Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001971691] Chr6:129315772 [GRCh38]
Chr6:129636917 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5929A>G (p.Ile1977Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001911982] Chr6:129427815 [GRCh38]
Chr6:129748960 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.784G>A (p.Asp262Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001863369] Chr6:129144045 [GRCh38]
Chr6:129465190 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.31-22.33(chr6:125037475-129494795)x1 copy number loss not provided [RCV001834303] Chr6:125037475..129494795 [GRCh37]
Chr6:6q22.31-22.33		 pathogenic
NM_000426.4(LAMA2):c.1705A>C (p.Ile569Leu) single nucleotide variant Inborn genetic diseases [RCV003303415]|LAMA2-related muscular dystrophy [RCV001928836] Chr6:129192776 [GRCh38]
Chr6:129513921 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8415G>A (p.Met2805Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002024978] Chr6:129503148 [GRCh38]
Chr6:129824293 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5100T>A (p.Asn1700Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001985730] Chr6:129391519 [GRCh38]
Chr6:129712664 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4437-2A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002006319] Chr6:129349296 [GRCh38]
Chr6:129670441 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.380_381delinsGA (p.Thr127Arg) indel LAMA2-related muscular dystrophy [RCV002041666] Chr6:129059880..129059881 [GRCh38]
Chr6:129381025..129381026 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7134G>A (p.Met2378Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002022898] Chr6:129464431 [GRCh38]
Chr6:129785576 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7858G>C (p.Asp2620His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002022395] Chr6:129486582 [GRCh38]
Chr6:129807727 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1255A>G (p.Ile419Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002023368] Chr6:129165624 [GRCh38]
Chr6:129486769 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1782+2_1782+4del deletion LAMA2-related muscular dystrophy [RCV002023023] Chr6:129192855..129192857 [GRCh38]
Chr6:129514000..129514002 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6479C>T (p.Pro2160Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002023026] Chr6:129453037 [GRCh38]
Chr6:129774182 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8083G>T (p.Asp2695Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001927188] Chr6:129492322 [GRCh38]
Chr6:129813467 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8591A>G (p.Asp2864Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001983644] Chr6:129505243 [GRCh38]
Chr6:129826388 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7655del (p.Leu2552fs) deletion LAMA2-related muscular dystrophy [RCV001927455] Chr6:129481345 [GRCh38]
Chr6:129802490 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5010G>C (p.Arg1670Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001967605] Chr6:129383172 [GRCh38]
Chr6:129704317 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6867+4A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001871115] Chr6:129456498 [GRCh38]
Chr6:129777643 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3922G>C (p.Glu1308Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002004085]|not provided [RCV003491007] Chr6:129315948 [GRCh38]
Chr6:129637093 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3232C>T (p.Gln1078Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001946954]|Merosin deficient congenital muscular dystrophy [RCV003471175] Chr6:129312918 [GRCh38]
Chr6:129634063 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8501C>G (p.Thr2834Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001967259] Chr6:129503234 [GRCh38]
Chr6:129824379 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33-23.1(chr6:129779876-130603406) copy number gain not specified [RCV002053620] Chr6:129779876..130603406 [GRCh37]
Chr6:6q22.33-23.1		 uncertain significance
NM_000426.4(LAMA2):c.4199G>T (p.Arg1400Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001983631] Chr6:129328300 [GRCh38]
Chr6:129649445 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2187del (p.Tyr730fs) deletion LAMA2-related muscular dystrophy [RCV001911054] Chr6:129260799 [GRCh38]
Chr6:129581944 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2441C>T (p.Pro814Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001983773] Chr6:129270742 [GRCh38]
Chr6:129591887 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4658C>T (p.Thr1553Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001946234] Chr6:129353298 [GRCh38]
Chr6:129674443 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33(chr6:129194041-129265183)x1 copy number loss not provided [RCV001829107] Chr6:129194041..129265183 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8294A>T (p.Gln2765Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002040938] Chr6:129502708 [GRCh38]
Chr6:129823853 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9223C>T (p.Gln3075Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001869822]|Merosin deficient congenital muscular dystrophy [RCV001823682] Chr6:129516201 [GRCh38]
Chr6:129837346 [GRCh37]
Chr6:6q22.33		 pathogenic|uncertain significance
NM_000426.4(LAMA2):c.4736C>A (p.Thr1579Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002040861] Chr6:129366237 [GRCh38]
Chr6:129687382 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8422A>T (p.Ile2808Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002021683] Chr6:129503155 [GRCh38]
Chr6:129824300 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4046T>C (p.Met1349Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002042154] Chr6:129316159 [GRCh38]
Chr6:129637304 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207-1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002005030] Chr6:129165575 [GRCh38]
Chr6:129486720 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5834C>G (p.Ala1945Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002005049] Chr6:129403928 [GRCh38]
Chr6:129725073 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3484G>A (p.Gly1162Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001911338]|not provided [RCV003134214] Chr6:129314727 [GRCh38]
Chr6:129635872 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8615G>A (p.Ser2872Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001926422] Chr6:129505267 [GRCh38]
Chr6:129826412 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6822T>A (p.Asp2274Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002041203] Chr6:129456449 [GRCh38]
Chr6:129777594 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8075+2dup duplication LAMA2-related muscular dystrophy [RCV001968699]|Merosin deficient congenital muscular dystrophy [RCV003471210] Chr6:129492078..129492079 [GRCh38]
Chr6:129813223..129813224 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.414T>G (p.Tyr138Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001982877] Chr6:129098190 [GRCh38]
Chr6:129419335 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1843G>T (p.Glu615Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001982915] Chr6:129250172 [GRCh38]
Chr6:129571317 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6501C>A (p.Tyr2167Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001985194] Chr6:129453059 [GRCh38]
Chr6:129774204 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.779A>G (p.His260Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001948350] Chr6:129144040 [GRCh38]
Chr6:129465185 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8255C>A (p.Ala2752Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001986908] Chr6:129502669 [GRCh38]
Chr6:129823814 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33(chr6:129793417-129924616) copy number loss not specified [RCV002053621] Chr6:129793417..129924616 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2069A>G (p.Tyr690Cys) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV001839139] Chr6:129252268 [GRCh38]
Chr6:129573413 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6992+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002021755] Chr6:129460325 [GRCh38]
Chr6:129781470 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5477G>A (p.Arg1826Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002023664]|Merosin deficient congenital muscular dystrophy [RCV002486726]|not provided [RCV003134358] Chr6:129401255 [GRCh38]
Chr6:129722400 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3182del (p.Asn1061fs) deletion LAMA2-related muscular dystrophy [RCV002007554] Chr6:129312867 [GRCh38]
Chr6:129634012 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4366_4370del (p.Tyr1456fs) deletion LAMA2-related muscular dystrophy [RCV001894645] Chr6:129342397..129342401 [GRCh38]
Chr6:129663542..129663546 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2833G>A (p.Gly945Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002005393]|Merosin deficient congenital muscular dystrophy [RCV002507732] Chr6:129291697 [GRCh38]
Chr6:129612842 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9267A>T (p.Arg3089Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002040651] Chr6:129516245 [GRCh38]
Chr6:129837390 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6698T>C (p.Val2233Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001948533] Chr6:129454279 [GRCh38]
Chr6:129775424 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5749A>G (p.Ile1917Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002002287] Chr6:129403843 [GRCh38]
Chr6:129724988 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1609-5C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001983697] Chr6:129192675 [GRCh38]
Chr6:129513820 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8324C>A (p.Ala2775Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001910379] Chr6:129502738 [GRCh38]
Chr6:129823883 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129807599)_(129807787_?)del deletion LAMA2-related muscular dystrophy [RCV001871142] Chr6:129807599..129807787 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8644G>A (p.Val2882Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001949202] Chr6:129505296 [GRCh38]
Chr6:129826441 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.2392A>G (p.Lys798Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001970259]|not provided [RCV002473340] Chr6:129270693 [GRCh38]
Chr6:129591838 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5318G>A (p.Arg1773Gln) single nucleotide variant Inborn genetic diseases [RCV002543350]|LAMA2-related muscular dystrophy [RCV002543351]|not provided [RCV001847430] Chr6:129393128 [GRCh38]
Chr6:129714273 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5235-3C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001872250] Chr6:129393042 [GRCh38]
Chr6:129714187 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2451-19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001895440] Chr6:129280042 [GRCh38]
Chr6:129601187 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.11:g.(?_129712616)_(129794517_?)del deletion LAMA2-related muscular dystrophy [RCV001949265] Chr6:129712616..129794517 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1748A>G (p.Tyr583Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001889925]|not provided [RCV003134180] Chr6:129192819 [GRCh38]
Chr6:129513964 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7750-19T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001968447] Chr6:129486455 [GRCh38]
Chr6:129807600 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6043A>C (p.Thr2015Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001893586] Chr6:129438720 [GRCh38]
Chr6:129759865 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129511330)_(129514018_?)dup duplication LAMA2-related muscular dystrophy [RCV001948663] Chr6:129511330..129514018 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6135C>G (p.Asn2045Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001946540]|not provided [RCV003134272] Chr6:129440865 [GRCh38]
Chr6:129762010 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7196A>G (p.Lys2399Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001965582]|not provided [RCV003134298] Chr6:129465185 [GRCh38]
Chr6:129786330 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8857+7C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003852706] Chr6:129507649 [GRCh38]
Chr6:129828794 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3275_3276del (p.Glu1092fs) microsatellite LAMA2-related muscular dystrophy [RCV001912370] Chr6:129312959..129312960 [GRCh38]
Chr6:129634104..129634105 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7517A>G (p.Tyr2506Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002044144] Chr6:129478758 [GRCh38]
Chr6:129799903 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3338_3345dup (p.Thr1116fs) duplication LAMA2-related muscular dystrophy [RCV001913853] Chr6:129313023..129313024 [GRCh38]
Chr6:129634168..129634169 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3869A>G (p.His1290Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001863296] Chr6:129315895 [GRCh38]
Chr6:129637040 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5990G>A (p.Gly1997Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001987472] Chr6:129438667 [GRCh38]
Chr6:129759812 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5441T>C (p.Leu1814Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002041720] Chr6:129393251 [GRCh38]
Chr6:129714396 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.33(chr6:129093934-129222743) copy number loss not specified [RCV002053619] Chr6:129093934..129222743 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2565C>T (p.Pro855=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001985735] Chr6:129287874 [GRCh38]
Chr6:129609019 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6115dup (p.Asp2039fs) duplication LAMA2-related muscular dystrophy [RCV002007455] Chr6:129440843..129440844 [GRCh38]
Chr6:129761988..129761989 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4097G>A (p.Arg1366His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001872851] Chr6:129320576 [GRCh38]
Chr6:129641721 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3809A>G (p.Tyr1270Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002005636] Chr6:129315835 [GRCh38]
Chr6:129636980 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1864C>A (p.Gln622Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001966837] Chr6:129250193 [GRCh38]
Chr6:129571338 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3240C>A (p.Asn1080Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001909200]|not provided [RCV003134219] Chr6:129312926 [GRCh38]
Chr6:129634071 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1723C>G (p.Arg575Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001968876] Chr6:129192794 [GRCh38]
Chr6:129513939 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6514G>T (p.Val2172Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001968878] Chr6:129453072 [GRCh38]
Chr6:129774217 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6430-17T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002023577] Chr6:129452971 [GRCh38]
Chr6:129774116 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7882G>T (p.Val2628Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001870840] Chr6:129486606 [GRCh38]
Chr6:129807751 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4959+6G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001947940] Chr6:129369996 [GRCh38]
Chr6:129691141 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2749+15A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001982980] Chr6:129288073 [GRCh38]
Chr6:129609218 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3145T>C (p.Trp1049Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001947486] Chr6:129300843 [GRCh38]
Chr6:129621988 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2282G>A (p.Gly761Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001927898] Chr6:129267179 [GRCh38]
Chr6:129588324 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1072A>G (p.Asn358Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001968691] Chr6:129154549 [GRCh38]
Chr6:129475694 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4688G>A (p.Trp1563Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001946798]|Merosin deficient congenital muscular dystrophy [RCV003984866] Chr6:129353328 [GRCh38]
Chr6:129674473 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6191del (p.Gly2064fs) deletion LAMA2-related muscular dystrophy [RCV002042289] Chr6:129440920 [GRCh38]
Chr6:129762065 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129748887)_(129781479_?)del deletion LAMA2-related muscular dystrophy [RCV001983078] Chr6:129748887..129781479 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5980C>A (p.His1994Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001969093] Chr6:129438657 [GRCh38]
Chr6:129759802 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1712A>G (p.Asn571Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001872646]|not provided [RCV003487815] Chr6:129192783 [GRCh38]
Chr6:129513928 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3350C>T (p.Thr1117Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001984467] Chr6:129313036 [GRCh38]
Chr6:129634181 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7030G>T (p.Asp2344Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001889243] Chr6:129464327 [GRCh38]
Chr6:129785472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.250C>G (p.Arg84Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001891070] Chr6:129050055 [GRCh38]
Chr6:129371200 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2113C>G (p.Leu705Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001910658] Chr6:129260727 [GRCh38]
Chr6:129581872 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7301-13_7301-10del microsatellite LAMA2-related muscular dystrophy [RCV001983334] Chr6:129473195..129473198 [GRCh38]
Chr6:129794340..129794343 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8344A>C (p.Lys2782Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001948098]|not provided [RCV003130603] Chr6:129502758 [GRCh38]
Chr6:129823903 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7355C>T (p.Ser2452Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001986643]|not provided [RCV003138019] Chr6:129473268 [GRCh38]
Chr6:129794413 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7807G>T (p.Ala2603Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002005133] Chr6:129486531 [GRCh38]
Chr6:129807676 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5487G>C (p.Glu1829Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002040386] Chr6:129401265 [GRCh38]
Chr6:129722410 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7332T>G (p.Asn2444Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001913129] Chr6:129473245 [GRCh38]
Chr6:129794390 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8429A>G (p.His2810Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001948293] Chr6:129503162 [GRCh38]
Chr6:129824307 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6446C>T (p.Ser2149Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001965140] Chr6:129453004 [GRCh38]
Chr6:129774149 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4013A>G (p.Tyr1338Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001909231] Chr6:129316126 [GRCh38]
Chr6:129637271 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2186G>C (p.Gly729Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001893257] Chr6:129260800 [GRCh38]
Chr6:129581945 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5071+2966A>G single nucleotide variant not provided [RCV001837704] Chr6:129386199 [GRCh38]
Chr6:129707344 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1270G>A (p.Glu424Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001903175] Chr6:129165639 [GRCh38]
Chr6:129486784 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.194T>A (p.Met65Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001888453] Chr6:129049999 [GRCh38]
Chr6:129371144 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5740G>A (p.Ala1914Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001999348]|not provided [RCV003134335] Chr6:129403834 [GRCh38]
Chr6:129724979 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1782+4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001887619]|not provided [RCV003487803] Chr6:129192857 [GRCh38]
Chr6:129514002 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.535C>G (p.Leu179Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001996917] Chr6:129098311 [GRCh38]
Chr6:129419456 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3305G>A (p.Arg1102His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001996952]|not provided [RCV003134294] Chr6:129312991 [GRCh38]
Chr6:129634136 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129621871)_(129622027_?)del deletion LAMA2-related muscular dystrophy [RCV001962899] Chr6:129621871..129622027 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3372dup (p.Cys1125fs) duplication LAMA2-related muscular dystrophy [RCV001944419] Chr6:129313052..129313053 [GRCh38]
Chr6:129634197..129634198 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2486G>T (p.Gly829Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001944494] Chr6:129280096 [GRCh38]
Chr6:129601241 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7321A>G (p.Ile2441Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001961512] Chr6:129473234 [GRCh38]
Chr6:129794379 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9222G>C (p.Lys3074Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001877534] Chr6:129516200 [GRCh38]
Chr6:129837345 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1206+18_1206+47dup duplication LAMA2-related muscular dystrophy [RCV001878934] Chr6:129154691..129154692 [GRCh38]
Chr6:129475836..129475837 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6101T>C (p.Leu2034Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001901926] Chr6:129440831 [GRCh38]
Chr6:129761976 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9307G>C (p.Val3103Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001924635] Chr6:129516285 [GRCh38]
Chr6:129837430 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3539G>C (p.Gly1180Ala) single nucleotide variant Inborn genetic diseases [RCV003303477]|LAMA2-related muscular dystrophy [RCV001982524] Chr6:129314782 [GRCh38]
Chr6:129635927 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2912C>T (p.Ser971Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001905278] Chr6:129297740 [GRCh38]
Chr6:129618885 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6806C>T (p.Thr2269Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001943221]|not provided [RCV003134234] Chr6:129456433 [GRCh38]
Chr6:129777578 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2881G>A (p.Ala961Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001961673]|not provided [RCV003134305] Chr6:129297709 [GRCh38]
Chr6:129618854 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6782A>G (p.His2261Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001877649] Chr6:129456409 [GRCh38]
Chr6:129777554 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4084G>A (p.Ala1362Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001980211] Chr6:129320563 [GRCh38]
Chr6:129641708 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7899-3C>T single nucleotide variant Inborn genetic diseases [RCV002642053]|LAMA2-related muscular dystrophy [RCV002019579]|not provided [RCV003134333] Chr6:129491898 [GRCh38]
Chr6:129813043 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3572A>G (p.Glu1191Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002000491] Chr6:129315492 [GRCh38]
Chr6:129636637 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3527C>G (p.Ser1176Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001963428] Chr6:129314770 [GRCh38]
Chr6:129635915 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6288T>G (p.Asp2096Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002039056] Chr6:129445680 [GRCh38]
Chr6:129766825 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1445G>A (p.Cys482Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001941113] Chr6:129177844 [GRCh38]
Chr6:129498989 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.802C>A (p.Pro268Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001944264] Chr6:129144063 [GRCh38]
Chr6:129465208 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7740G>C (p.Gln2580His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001980309] Chr6:129481430 [GRCh38]
Chr6:129802575 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3556-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001998045]|Merosin deficient congenital muscular dystrophy [RCV003464331] Chr6:129315475 [GRCh38]
Chr6:129636620 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5222A>T (p.Glu1741Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001924978] Chr6:129391641 [GRCh38]
Chr6:129712786 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5672C>G (p.Ser1891Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001944330] Chr6:129402433 [GRCh38]
Chr6:129723578 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129371053)_(129419570_?)dup duplication LAMA2-related muscular dystrophy [RCV002019797] Chr6:129371053..129419570 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2971G>A (p.Val991Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001930213] Chr6:129297799 [GRCh38]
Chr6:129618944 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1736C>T (p.Pro579Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001954808] Chr6:129192807 [GRCh38]
Chr6:129513952 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8740C>T (p.His2914Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002034939] Chr6:129507525 [GRCh38]
Chr6:129828670 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2404G>A (p.Glu802Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001941435] Chr6:129270705 [GRCh38]
Chr6:129591850 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7631T>C (p.Ile2544Thr) single nucleotide variant Inborn genetic diseases [RCV003167023]|LAMA2-related muscular dystrophy [RCV001887410] Chr6:129481321 [GRCh38]
Chr6:129802466 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1885-19_1885-16del deletion LAMA2-related muscular dystrophy [RCV001981189] Chr6:129252062..129252065 [GRCh38]
Chr6:129573207..129573210 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8666G>A (p.Gly2889Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002020309] Chr6:129505318 [GRCh38]
Chr6:129826463 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5549A>G (p.Asn1850Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001901011] Chr6:129401327 [GRCh38]
Chr6:129722472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs) duplication LAMA2-related muscular dystrophy [RCV001956383]|Merosin deficient congenital muscular dystrophy [RCV002246625] Chr6:129505264..129505265 [GRCh38]
Chr6:129826409..129826410 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4665G>C (p.Arg1555Ser) single nucleotide variant Inborn genetic diseases [RCV002553645]|LAMA2-related muscular dystrophy [RCV001884505] Chr6:129353305 [GRCh38]
Chr6:129674450 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6909G>A (p.Met2303Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001982378] Chr6:129460241 [GRCh38]
Chr6:129781386 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3924+6G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001961503] Chr6:129315956 [GRCh38]
Chr6:129637101 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.437C>A (p.Ser146Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001940869]|Merosin deficient congenital muscular dystrophy [RCV003471076] Chr6:129098213 [GRCh38]
Chr6:129419358 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.4861-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001999425]|Merosin deficient congenital muscular dystrophy [RCV003471248] Chr6:129369890 [GRCh38]
Chr6:129691035 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.9286G>A (p.Gly3096Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001886917] Chr6:129516264 [GRCh38]
Chr6:129837409 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.308T>C (p.Ile103Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002017185] Chr6:129059808 [GRCh38]
Chr6:129380953 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8357+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001999889] Chr6:129502772 [GRCh38]
Chr6:129823917 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8802T>G (p.Cys2934Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001866628] Chr6:129507587 [GRCh38]
Chr6:129828732 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4212A>G (p.Gln1404=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002028773] Chr6:129328313 [GRCh38]
Chr6:129649458 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.9008A>T (p.Asn3003Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001943428] Chr6:129514392 [GRCh38]
Chr6:129835537 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6031del (p.Asp2011fs) deletion LAMA2-related muscular dystrophy [RCV001960566] Chr6:129438705 [GRCh38]
Chr6:129759850 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3578C>G (p.Thr1193Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001962072] Chr6:129315498 [GRCh38]
Chr6:129636643 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4096C>T (p.Arg1366Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001886886] Chr6:129320575 [GRCh38]
Chr6:129641720 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6308A>C (p.Glu2103Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001906143] Chr6:129445700 [GRCh38]
Chr6:129766845 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.499C>T (p.Gln167Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001942095] Chr6:129098275 [GRCh38]
Chr6:129419420 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6269-2A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002035905] Chr6:129443061 [GRCh38]
Chr6:129764206 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7112T>C (p.Phe2371Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001898665] Chr6:129464409 [GRCh38]
Chr6:129785554 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5236G>A (p.Ala1746Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002031733] Chr6:129393046 [GRCh38]
Chr6:129714191 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129691027)_(129704388_?)del deletion LAMA2-related muscular dystrophy [RCV001942130] Chr6:129691027..129704388 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129465026)_(129514018_?)del deletion LAMA2-related muscular dystrophy [RCV001942131] Chr6:129465026..129514018 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1884+18T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002000198] Chr6:129250231 [GRCh38]
Chr6:129571376 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5261T>C (p.Val1754Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001962742] Chr6:129393071 [GRCh38]
Chr6:129714216 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8962_8965dup (p.Gly2989fs) duplication LAMA2-related muscular dystrophy [RCV002000175] Chr6:129512466..129512467 [GRCh38]
Chr6:129833611..129833612 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3555+6T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002037472] Chr6:129314804 [GRCh38]
Chr6:129635949 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8480A>G (p.Tyr2827Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002010023] Chr6:129503213 [GRCh38]
Chr6:129824358 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8638G>T (p.Asp2880Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002013937] Chr6:129505290 [GRCh38]
Chr6:129826435 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8170C>T (p.Pro2724Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002001081] Chr6:129492409 [GRCh38]
Chr6:129813554 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1070A>G (p.Glu357Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001907151] Chr6:129154547 [GRCh38]
Chr6:129475692 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5830G>T (p.Glu1944Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001941713] Chr6:129403924 [GRCh38]
Chr6:129725069 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1206+3A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001888400] Chr6:129154686 [GRCh38]
Chr6:129475831 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2209-20A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001975320] Chr6:129267086 [GRCh38]
Chr6:129588231 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7518C>A (p.Tyr2506Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001936265] Chr6:129478759 [GRCh38]
Chr6:129799904 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129670423)_(129691155_?)del deletion LAMA2-related muscular dystrophy [RCV001975143] Chr6:129670423..129691155 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3941A>G (p.Tyr1314Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001955703] Chr6:129316054 [GRCh38]
Chr6:129637199 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8647G>T (p.Gly2883Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001975119] Chr6:129505299 [GRCh38]
Chr6:129826444 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.746G>A (p.Arg249His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001935072] Chr6:129144007 [GRCh38]
Chr6:129465152 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2108T>C (p.Val703Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001976591] Chr6:129260722 [GRCh38]
Chr6:129581867 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6222C>G (p.Asp2074Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002049771] Chr6:129440952 [GRCh38]
Chr6:129762097 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9049C>T (p.Pro3017Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002047071] Chr6:129514433 [GRCh38]
Chr6:129835578 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8690G>C (p.Arg2897Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002047044] Chr6:129505342 [GRCh38]
Chr6:129826487 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3999A>G (p.Leu1333=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001933997] Chr6:129316112 [GRCh38]
Chr6:129637257 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8245G>T (p.Gly2749Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001990146] Chr6:129502659 [GRCh38]
Chr6:129823804 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.864C>G (p.Ile288Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001902616] Chr6:129147003 [GRCh38]
Chr6:129468148 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2771G>T (p.Gly924Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001921894] Chr6:129291635 [GRCh38]
Chr6:129612780 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6703T>A (p.Ser2235Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001882379] Chr6:129454284 [GRCh38]
Chr6:129775429 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6668C>T (p.Thr2223Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001976833] Chr6:129454249 [GRCh38]
Chr6:129775394 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1918G>A (p.Glu640Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001866307] Chr6:129252117 [GRCh38]
Chr6:129573262 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7300+2T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002049718] Chr6:129465291 [GRCh38]
Chr6:129786436 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3305G>T (p.Arg1102Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001918192]|not provided [RCV003134227] Chr6:129312991 [GRCh38]
Chr6:129634136 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.466C>T (p.Arg156Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001864723] Chr6:129098242 [GRCh38]
Chr6:129419387 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.282C>T (p.Asn94=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001867661] Chr6:129050087 [GRCh38]
Chr6:129371232 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6466C>T (p.Arg2156Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001994596]|Merosin deficient congenital muscular dystrophy [RCV003471134]|Qualitative or quantitative defects of merosin [RCV003225984] Chr6:129453024 [GRCh38]
Chr6:129774169 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7792C>A (p.His2598Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001879232] Chr6:129486516 [GRCh38]
Chr6:129807661 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3880C>T (p.Pro1294Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001864797] Chr6:129315906 [GRCh38]
Chr6:129637051 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.680A>G (p.Asp227Gly) single nucleotide variant Inborn genetic diseases [RCV002545805]|LAMA2-related muscular dystrophy [RCV001866555] Chr6:129143941 [GRCh38]
Chr6:129465086 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NC_000006.11:g.(?_129775280)_(129777659_?)del deletion LAMA2-related muscular dystrophy [RCV001973361] Chr6:129775280..129777659 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8228C>T (p.Thr2743Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001902793] Chr6:129492467 [GRCh38]
Chr6:129813612 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4092A>C (p.Gln1364His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001991882] Chr6:129320571 [GRCh38]
Chr6:129641716 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3020_3021del (p.Gln1007fs) deletion LAMA2-related muscular dystrophy [RCV001993264] Chr6:129297848..129297849 [GRCh38]
Chr6:129618993..129618994 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5271G>C (p.Leu1757=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001993283] Chr6:129393081 [GRCh38]
Chr6:129714226 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8682C>G (p.Tyr2894Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001956201] Chr6:129505334 [GRCh38]
Chr6:129826479 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2426G>A (p.Cys809Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001972225] Chr6:129270727 [GRCh38]
Chr6:129591872 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6338T>G (p.Leu2113Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001875579] Chr6:129445730 [GRCh38]
Chr6:129766875 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129618820)_(129619020_?)del deletion LAMA2-related muscular dystrophy [RCV001953792] Chr6:129618820..129619020 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1782+5_1782+6delinsCC indel LAMA2-related muscular dystrophy [RCV002030254] Chr6:129192858..129192859 [GRCh38]
Chr6:129514003..129514004 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3037+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002026459] Chr6:129297870 [GRCh38]
Chr6:129619015 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6266_6267insGGATCTTACTTCCAAAAG (p.Asn2089delinsLysAspLeuThrSerLysSer) insertion LAMA2-related muscular dystrophy [RCV001878436] Chr6:129440996..129440997 [GRCh38]
Chr6:129762141..129762142 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4217G>T (p.Gly1406Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001935600] Chr6:129328318 [GRCh38]
Chr6:129649463 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1087A>C (p.Asn363His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002027842] Chr6:129154564 [GRCh38]
Chr6:129475709 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5235-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002011319]|Merosin deficient congenital muscular dystrophy [RCV003387540] Chr6:129393044 [GRCh38]
Chr6:129714189 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1884+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002012684] Chr6:129250214 [GRCh38]
Chr6:129571359 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5071+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001975055] Chr6:129383234 [GRCh38]
Chr6:129704379 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1877del (p.Ile626fs) deletion LAMA2-related muscular dystrophy [RCV001934851] Chr6:129250206 [GRCh38]
Chr6:129571351 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4223G>A (p.Arg1408His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001922248] Chr6:129328324 [GRCh38]
Chr6:129649469 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4717+2T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002012561] Chr6:129353359 [GRCh38]
Chr6:129674504 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4959+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001992109] Chr6:129369991 [GRCh38]
Chr6:129691136 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2499_2500insCATCCAA (p.Gly834fs) insertion LAMA2-related muscular dystrophy [RCV001933520] Chr6:129280109..129280110 [GRCh38]
Chr6:129601254..129601255 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4583_4584del (p.Glu1528fs) deletion LAMA2-related muscular dystrophy [RCV001916271] Chr6:129353222..129353223 [GRCh38]
Chr6:129674367..129674368 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.413A>G (p.Tyr138Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001901469] Chr6:129098189 [GRCh38]
Chr6:129419334 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129674289)_(129687526_?)dup duplication LAMA2-related muscular dystrophy [RCV002011440] Chr6:129674289..129687526 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2197T>A (p.Ser733Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001938330] Chr6:129260811 [GRCh38]
Chr6:129581956 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8609C>T (p.Thr2870Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002034181] Chr6:129505261 [GRCh38]
Chr6:129826406 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6520G>A (p.Val2174Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001996946]|Merosin deficient congenital muscular dystrophy [RCV002492088]|not provided [RCV003134293] Chr6:129453078 [GRCh38]
Chr6:129774223 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1710T>G (p.Ser570Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001905696] Chr6:129192781 [GRCh38]
Chr6:129513926 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6745G>A (p.Asp2249Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002036053] Chr6:129456372 [GRCh38]
Chr6:129777517 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3602C>T (p.Ala1201Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002046633] Chr6:129315522 [GRCh38]
Chr6:129636667 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4757T>A (p.Leu1586Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001920414] Chr6:129366258 [GRCh38]
Chr6:129687403 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.991A>T (p.Arg331Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001994592] Chr6:129149060 [GRCh38]
Chr6:129470205 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129608982)_(129609213_?)del deletion LAMA2-related muscular dystrophy [RCV001939625] Chr6:129608982..129609213 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3089_3126dup (p.Lys1043fs) duplication LAMA2-related muscular dystrophy [RCV001972668]|Merosin deficient congenital muscular dystrophy [RCV003471182] Chr6:129300785..129300786 [GRCh38]
Chr6:129621930..129621931 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.5866G>T (p.Ala1956Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001932384] Chr6:129427752 [GRCh38]
Chr6:129748897 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7436T>G (p.Leu2479Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001905159] Chr6:129473349 [GRCh38]
Chr6:129794494 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129575033)_(129591846_?)del deletion LAMA2-related muscular dystrophy [RCV002019409] Chr6:129575033..129591846 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4312-12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV001982397] Chr6:129342331 [GRCh38]
Chr6:129663476 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4634del (p.Phe1545fs) deletion LAMA2-related muscular dystrophy [RCV001989808] Chr6:129353273 [GRCh38]
Chr6:129674418 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5356dup (p.Ala1786fs) duplication LAMA2-related muscular dystrophy [RCV001899235] Chr6:129393165..129393166 [GRCh38]
Chr6:129714310..129714311 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8728G>C (p.Val2910Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001982387] Chr6:129507513 [GRCh38]
Chr6:129828658 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6442G>A (p.Val2148Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001972957] Chr6:129453000 [GRCh38]
Chr6:129774145 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6274+2T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV001975519] Chr6:129443070 [GRCh38]
Chr6:129764215 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3614C>T (p.Thr1205Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV001936194]|not provided [RCV003130615] Chr6:129315534 [GRCh38]
Chr6:129636679 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.938_939del (p.Thr313fs) microsatellite LAMA2-related muscular dystrophy [RCV001876515]|Merosin deficient congenital muscular dystrophy [RCV003470958] Chr6:129149004..129149005 [GRCh38]
Chr6:129470149..129470150 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3833G>T (p.Gly1278Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001974282] Chr6:129315859 [GRCh38]
Chr6:129637004 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7070G>A (p.Trp2357Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001880540] Chr6:129464367 [GRCh38]
Chr6:129785512 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1148A>G (p.Gln383Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001980764] Chr6:129154625 [GRCh38]
Chr6:129475770 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3406T>A (p.Cys1136Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001981329]|not provided [RCV003134284] Chr6:129313092 [GRCh38]
Chr6:129634237 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3626G>A (p.Gly1209Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002010810] Chr6:129315546 [GRCh38]
Chr6:129636691 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5087C>G (p.Ala1696Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001902226] Chr6:129391506 [GRCh38]
Chr6:129712651 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7945del (p.Asn2648_Leu2649insTer) deletion LAMA2-related muscular dystrophy [RCV001937288] Chr6:129491946 [GRCh38]
Chr6:129813091 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6716_6724del (p.Arg2239_Gly2241del) deletion LAMA2-related muscular dystrophy [RCV002019582] Chr6:129456342..129456350 [GRCh38]
Chr6:129777487..129777495 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4464A>T (p.Gly1488=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001954784] Chr6:129349325 [GRCh38]
Chr6:129670470 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.3404C>T (p.Thr1135Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001978946] Chr6:129313090 [GRCh38]
Chr6:129634235 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8986A>T (p.Lys2996Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001958691] Chr6:129512491 [GRCh38]
Chr6:129833636 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2276G>T (p.Cys759Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001939279] Chr6:129267173 [GRCh38]
Chr6:129588318 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2527C>G (p.Arg843Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001981417] Chr6:129280137 [GRCh38]
Chr6:129601282 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3817C>T (p.Gln1273Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001996688] Chr6:129315843 [GRCh38]
Chr6:129636988 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6131C>G (p.Ala2044Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001939944] Chr6:129440861 [GRCh38]
Chr6:129762006 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4838A>C (p.Glu1613Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001925371] Chr6:129366339 [GRCh38]
Chr6:129687484 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8180T>C (p.Ile2727Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001974592] Chr6:129492419 [GRCh38]
Chr6:129813564 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3100C>A (p.Pro1034Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002033327] Chr6:129300798 [GRCh38]
Chr6:129621943 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3191C>T (p.Thr1064Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002018541] Chr6:129312877 [GRCh38]
Chr6:129634022 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8275C>G (p.Leu2759Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001875358] Chr6:129502689 [GRCh38]
Chr6:129823834 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7414G>T (p.Gly2472Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002013734] Chr6:129473327 [GRCh38]
Chr6:129794472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7927A>T (p.Arg2643Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001979129] Chr6:129491929 [GRCh38]
Chr6:129813074 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129419305)_(129749009_?)del deletion LAMA2-related muscular dystrophy [RCV001958841] Chr6:129419305..129749009 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3133G>T (p.Ala1045Ser) single nucleotide variant Inborn genetic diseases [RCV002548063]|LAMA2-related muscular dystrophy [RCV001934526] Chr6:129300831 [GRCh38]
Chr6:129621976 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.467G>C (p.Arg156Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001897328] Chr6:129098243 [GRCh38]
Chr6:129419388 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8212G>C (p.Ala2738Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001934569] Chr6:129492451 [GRCh38]
Chr6:129813596 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5873G>A (p.Gly1958Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002036481] Chr6:129427759 [GRCh38]
Chr6:129748904 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6011A>G (p.Asn2004Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001917392] Chr6:129438688 [GRCh38]
Chr6:129759833 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8671C>G (p.Pro2891Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002013850] Chr6:129505323 [GRCh38]
Chr6:129826468 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9168_9169dup (p.Ser3057fs) duplication LAMA2-related muscular dystrophy [RCV001956405] Chr6:129514551..129514552 [GRCh38]
Chr6:129835696..129835697 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8363del (p.Thr2788fs) deletion LAMA2-related muscular dystrophy [RCV001924296] Chr6:129503096 [GRCh38]
Chr6:129824241 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1177T>G (p.Cys393Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001939471] Chr6:129154654 [GRCh38]
Chr6:129475799 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5108T>C (p.Leu1703Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV001999178] Chr6:129391527 [GRCh38]
Chr6:129712672 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7370del (p.Asn2457fs) deletion LAMA2-related muscular dystrophy [RCV001866909] Chr6:129473282 [GRCh38]
Chr6:129794427 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6628G>A (p.Val2210Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV001974913] Chr6:129454209 [GRCh38]
Chr6:129775354 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5294del (p.Asn1765fs) deletion LAMA2-related muscular dystrophy [RCV001897459] Chr6:129393101 [GRCh38]
Chr6:129714246 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8069A>C (p.Asn2690Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002018087] Chr6:129492071 [GRCh38]
Chr6:129813216 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6691C>T (p.Arg2231Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001877235] Chr6:129454272 [GRCh38]
Chr6:129775417 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7790T>G (p.Val2597Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001976410] Chr6:129486514 [GRCh38]
Chr6:129807659 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4615del (p.Cys1539fs) deletion LAMA2-related muscular dystrophy [RCV001956497] Chr6:129353255 [GRCh38]
Chr6:129674400 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2541T>A (p.Cys847Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001905044] Chr6:129287850 [GRCh38]
Chr6:129608995 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7870_7871dup (p.Ser2625fs) duplication LAMA2-related muscular dystrophy [RCV001952669]|Merosin deficient congenital muscular dystrophy [RCV003464256] Chr6:129486592..129486593 [GRCh38]
Chr6:129807737..129807738 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1074T>G (p.Asn358Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001936857] Chr6:129154551 [GRCh38]
Chr6:129475696 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8170C>G (p.Pro2724Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001954395] Chr6:129492409 [GRCh38]
Chr6:129813554 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6543C>A (p.Asn2181Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001923274] Chr6:129453101 [GRCh38]
Chr6:129774246 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7840G>C (p.Glu2614Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV001923833] Chr6:129486564 [GRCh38]
Chr6:129807709 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2945G>A (p.Ser982Asn) single nucleotide variant Inborn genetic diseases [RCV002545820]|LAMA2-related muscular dystrophy [RCV001866872] Chr6:129297773 [GRCh38]
Chr6:129618918 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129371043)_(129486840_?)del deletion LAMA2-related muscular dystrophy [RCV001925480] Chr6:129371043..129486840 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8543del (p.His2848fs) deletion LAMA2-related muscular dystrophy [RCV001885704] Chr6:129503276 [GRCh38]
Chr6:129824421 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4711T>G (p.Cys1571Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002019580] Chr6:129353351 [GRCh38]
Chr6:129674496 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3445C>T (p.Arg1149Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV001980051] Chr6:129314688 [GRCh38]
Chr6:129635833 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4240del (p.Leu1414fs) deletion LAMA2-related muscular dystrophy [RCV001997082] Chr6:129328339 [GRCh38]
Chr6:129649484 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2239G>A (p.Gly747Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001997277]|not provided [RCV003134295] Chr6:129267136 [GRCh38]
Chr6:129588281 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8553G>C (p.Lys2851Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002017915] Chr6:129505205 [GRCh38]
Chr6:129826350 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2843G>T (p.Cys948Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001925670] Chr6:129291707 [GRCh38]
Chr6:129612852 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4210C>T (p.Gln1404Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001939344] Chr6:129328311 [GRCh38]
Chr6:129649456 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1529A>G (p.Asp510Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV001884754]|not provided [RCV002464497] Chr6:129190266 [GRCh38]
Chr6:129511411 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3604C>G (p.Leu1202Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001961300] Chr6:129315524 [GRCh38]
Chr6:129636669 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8798del (p.Thr2933fs) deletion LAMA2-related muscular dystrophy [RCV001884345] Chr6:129507583 [GRCh38]
Chr6:129828728 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5839G>T (p.Asp1947Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001905589] Chr6:129403933 [GRCh38]
Chr6:129725078 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2322+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002035329] Chr6:129267227 [GRCh38]
Chr6:129588372 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2624T>C (p.Ile875Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001939765] Chr6:129287933 [GRCh38]
Chr6:129609078 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8821G>A (p.Gly2941Arg) single nucleotide variant Inborn genetic diseases [RCV002555299]|LAMA2-related muscular dystrophy [RCV001906482] Chr6:129507606 [GRCh38]
Chr6:129828751 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5135del (p.Arg1712fs) deletion LAMA2-related muscular dystrophy [RCV002035246] Chr6:129391554 [GRCh38]
Chr6:129712699 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1798G>T (p.Gly600Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001939431] Chr6:129250127 [GRCh38]
Chr6:129571272 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7354T>A (p.Ser2452Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001998013] Chr6:129473267 [GRCh38]
Chr6:129794412 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129641663)_(129641820_?)del deletion LAMA2-related muscular dystrophy [RCV001939626] Chr6:129641663..129641820 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8703+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002019151] Chr6:129505356 [GRCh38]
Chr6:129826501 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8743A>G (p.Met2915Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001907035] Chr6:129507528 [GRCh38]
Chr6:129828673 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5968+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV001989923] Chr6:129427859 [GRCh38]
Chr6:129749004 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129371043)_(129371253_?)del deletion LAMA2-related muscular dystrophy [RCV001939875] Chr6:129371043..129371253 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3911T>A (p.Ile1304Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV001885510]|not provided [RCV003487802] Chr6:129315937 [GRCh38]
Chr6:129637082 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6313G>A (p.Glu2105Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001997579] Chr6:129445705 [GRCh38]
Chr6:129766850 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2565del (p.Ser856fs) deletion LAMA2-related muscular dystrophy [RCV001950927] Chr6:129287872 [GRCh38]
Chr6:129609017 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9340G>C (p.Val3114Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002013199] Chr6:129516318 [GRCh38]
Chr6:129837463 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1678G>C (p.Asp560His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001988859] Chr6:129192749 [GRCh38]
Chr6:129513894 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8178_8185del (p.Glu2726fs) deletion LAMA2-related muscular dystrophy [RCV001922458] Chr6:129492416..129492423 [GRCh38]
Chr6:129813561..129813568 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6413G>A (p.Arg2138Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002026195] Chr6:129445805 [GRCh38]
Chr6:129766950 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129204391)_(129204522_?)del deletion LAMA2-related muscular dystrophy [RCV001953791] Chr6:129204391..129204522 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129674299)_(129687516_?)del deletion LAMA2-related muscular dystrophy [RCV001953793] Chr6:129674299..129687516 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4711T>C (p.Cys1571Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001920445] Chr6:129353351 [GRCh38]
Chr6:129674496 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9190G>T (p.Val3064Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001936119] Chr6:129514574 [GRCh38]
Chr6:129835719 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1306+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV001875254] Chr6:129165676 [GRCh38]
Chr6:129486821 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3137C>G (p.Pro1046Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV001931418] Chr6:129300835 [GRCh38]
Chr6:129621980 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8378T>C (p.Val2793Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001933150] Chr6:129503111 [GRCh38]
Chr6:129824256 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4498G>T (p.Gly1500Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV001918617] Chr6:129349359 [GRCh38]
Chr6:129670504 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4297del (p.Thr1433fs) deletion LAMA2-related muscular dystrophy [RCV001919511] Chr6:129328396 [GRCh38]
Chr6:129649541 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3887T>C (p.Ile1296Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV001878324] Chr6:129315913 [GRCh38]
Chr6:129637058 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4694C>T (p.Ala1565Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001921416] Chr6:129353334 [GRCh38]
Chr6:129674479 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2542G>T (p.Ala848Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002047384] Chr6:129287851 [GRCh38]
Chr6:129608996 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6661G>C (p.Asp2221His) single nucleotide variant LAMA2-related muscular dystrophy [RCV001936136] Chr6:129454242 [GRCh38]
Chr6:129775387 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7016G>A (p.Gly2339Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001952392] Chr6:129464313 [GRCh38]
Chr6:129785458 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1858G>A (p.Val620Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002030193] Chr6:129250187 [GRCh38]
Chr6:129571332 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.462G>T (p.Leu154Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV001904441] Chr6:129098238 [GRCh38]
Chr6:129419383 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4601C>T (p.Ser1534Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001917019] Chr6:129353241 [GRCh38]
Chr6:129674386 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8297dup (p.Gly2767fs) duplication LAMA2-related muscular dystrophy [RCV001932530] Chr6:129502709..129502710 [GRCh38]
Chr6:129823854..129823855 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6740C>T (p.Ala2247Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV001990529] Chr6:129456367 [GRCh38]
Chr6:129777512 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5470G>T (p.Gly1824Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV001919912] Chr6:129401248 [GRCh38]
Chr6:129722393 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9235_9238dup (p.Thr3080fs) duplication LAMA2-related muscular dystrophy [RCV001976932] Chr6:129516211..129516212 [GRCh38]
Chr6:129837356..129837357 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.872del (p.Gly291fs) deletion LAMA2-related muscular dystrophy [RCV001902119]|Merosin deficient congenital muscular dystrophy [RCV003470970]|Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003136225] Chr6:129147010 [GRCh38]
Chr6:129468155 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3059G>C (p.Gly1020Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV001991263] Chr6:129300757 [GRCh38]
Chr6:129621902 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8866T>C (p.Phe2956Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV001900313] Chr6:129512371 [GRCh38]
Chr6:129833516 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8089G>T (p.Ala2697Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002049304] Chr6:129492328 [GRCh38]
Chr6:129813473 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1782+5G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002051139] Chr6:129192858 [GRCh38]
Chr6:129514003 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6055A>T (p.Thr2019Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV001930765] Chr6:129438732 [GRCh38]
Chr6:129759877 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.242C>T (p.Pro81Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002010310] Chr6:129050047 [GRCh38]
Chr6:129371192 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7119G>C (p.Ser2373=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002075398] Chr6:129464416 [GRCh38]
Chr6:129785561 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7242T>C (p.Asn2414=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002208316] Chr6:129465231 [GRCh38]
Chr6:129786376 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002111889] Chr6:129288074 [GRCh38]
Chr6:129609219 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002148544] Chr6:129192663 [GRCh38]
Chr6:129513808 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+8G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002105191] Chr6:129291728 [GRCh38]
Chr6:129612873 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4728T>C (p.Asp1576=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002107040] Chr6:129366229 [GRCh38]
Chr6:129687374 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2385G>A (p.Glu795=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002075381] Chr6:129270686 [GRCh38]
Chr6:129591831 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4312-16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002090620] Chr6:129342327 [GRCh38]
Chr6:129663472 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6574-19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002087357] Chr6:129454136 [GRCh38]
Chr6:129775281 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6369A>G (p.Leu2123=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002128187] Chr6:129445761 [GRCh38]
Chr6:129766906 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002185069] Chr6:129402317 [GRCh38]
Chr6:129723462 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7527C>G (p.Leu2509=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002166318] Chr6:129478768 [GRCh38]
Chr6:129799913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002090189] Chr6:129312852 [GRCh38]
Chr6:129633997 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6086-18A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002168072] Chr6:129440798 [GRCh38]
Chr6:129761943 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3762G>A (p.Lys1254=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002086237] Chr6:129315788 [GRCh38]
Chr6:129636933 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8076-10A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002209389] Chr6:129492305 [GRCh38]
Chr6:129813450 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-18C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002088799] Chr6:129478675 [GRCh38]
Chr6:129799820 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7401A>G (p.Lys2467=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002207271] Chr6:129473314 [GRCh38]
Chr6:129794459 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-19del deletion LAMA2-related muscular dystrophy [RCV002130377] Chr6:129280041 [GRCh38]
Chr6:129601186 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6720T>C (p.Asn2240=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002088947] Chr6:129456347 [GRCh38]
Chr6:129777492 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+12C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002109451] Chr6:129192865 [GRCh38]
Chr6:129514010 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4260T>C (p.Cys1420=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002209323] Chr6:129328361 [GRCh38]
Chr6:129649506 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6183C>T (p.Asn2061=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002147452] Chr6:129440913 [GRCh38]
Chr6:129762058 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3033C>T (p.Cys1011=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002086492] Chr6:129297861 [GRCh38]
Chr6:129619006 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5445+9T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002106203] Chr6:129393264 [GRCh38]
Chr6:129714409 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5421T>C (p.Asn1807=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002086430] Chr6:129393231 [GRCh38]
Chr6:129714376 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+10G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002086448] Chr6:129144090 [GRCh38]
Chr6:129465235 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-18C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002075116] Chr6:129460182 [GRCh38]
Chr6:129781327 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6801G>A (p.Gly2267=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002165619] Chr6:129456428 [GRCh38]
Chr6:129777573 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3480A>T (p.Pro1160=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002087960] Chr6:129314723 [GRCh38]
Chr6:129635868 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+8C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002167207] Chr6:128883365 [GRCh38]
Chr6:129204510 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.113-11A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002112549] Chr6:129049907 [GRCh38]
Chr6:129371052 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4150C>T (p.Leu1384=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002089951] Chr6:129320629 [GRCh38]
Chr6:129641774 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9300A>C (p.Pro3100=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002104692] Chr6:129516278 [GRCh38]
Chr6:129837423 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6918A>T (p.Thr2306=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002189707] Chr6:129460250 [GRCh38]
Chr6:129781395 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.804C>A (p.Pro268=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002169008] Chr6:129144065 [GRCh38]
Chr6:129465210 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5241A>G (p.Ala1747=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002166284] Chr6:129393051 [GRCh38]
Chr6:129714196 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8232A>G (p.Pro2744=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002169814] Chr6:129492471 [GRCh38]
Chr6:129813616 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5586A>G (p.Lys1862=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002111538] Chr6:129402347 [GRCh38]
Chr6:129723492 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.702A>G (p.Glu234=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002189991] Chr6:129143963 [GRCh38]
Chr6:129465108 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5968+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002190500] Chr6:129427864 [GRCh38]
Chr6:129749009 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1488C>T (p.Asp496=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002108099] Chr6:129190225 [GRCh38]
Chr6:129511370 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8448T>A (p.Val2816=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002109721] Chr6:129503181 [GRCh38]
Chr6:129824326 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.678T>C (p.Asp226=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002144704] Chr6:129143939 [GRCh38]
Chr6:129465084 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.930G>A (p.Glu310=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002111569] Chr6:129148999 [GRCh38]
Chr6:129470144 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9351A>G (p.Val3117=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002165117] Chr6:129516329 [GRCh38]
Chr6:129837474 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+18_8075+20del deletion LAMA2-related muscular dystrophy [RCV002210789] Chr6:129492094..129492096 [GRCh38]
Chr6:129813239..129813241 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5532T>C (p.Arg1844=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002110053] Chr6:129401310 [GRCh38]
Chr6:129722455 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3150C>T (p.Gly1050=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002108503] Chr6:129300848 [GRCh38]
Chr6:129621993 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6537T>C (p.Ala2179=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002085893] Chr6:129453095 [GRCh38]
Chr6:129774240 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+11G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002090448] Chr6:129192864 [GRCh38]
Chr6:129514009 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1662G>A (p.Val554=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002090690] Chr6:129192733 [GRCh38]
Chr6:129513878 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4455C>T (p.Val1485=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002210844] Chr6:129349316 [GRCh38]
Chr6:129670461 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-13G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002192122] Chr6:129393032 [GRCh38]
Chr6:129714177 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1341T>A (p.Gly447=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002192123] Chr6:129177740 [GRCh38]
Chr6:129498885 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-12A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002190640] Chr6:129098161 [GRCh38]
Chr6:129419306 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002147122] Chr6:129315755 [GRCh38]
Chr6:129636900 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8076-16_8076-13del microsatellite LAMA2-related muscular dystrophy [RCV002110542] Chr6:129492294..129492297 [GRCh38]
Chr6:129813439..129813442 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8757T>C (p.Pro2919=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002090909] Chr6:129507542 [GRCh38]
Chr6:129828687 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer) insertion Merosin deficient congenital muscular dystrophy [RCV002250087] Chr6:129507498..129507499 [GRCh38]
Chr6:129828643..129828644 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2220T>C (p.Pro740=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002125952] Chr6:129267117 [GRCh38]
Chr6:129588262 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6246G>A (p.Val2082=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002207303] Chr6:129440976 [GRCh38]
Chr6:129762121 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7896A>G (p.Arg2632=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002185825] Chr6:129486620 [GRCh38]
Chr6:129807765 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8070C>T (p.Asn2690=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002106165] Chr6:129492072 [GRCh38]
Chr6:129813217 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4803G>T (p.Pro1601=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002107448] Chr6:129366304 [GRCh38]
Chr6:129687449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7908A>G (p.Thr2636=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002191213] Chr6:129491910 [GRCh38]
Chr6:129813055 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+7G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002088935] Chr6:129492084 [GRCh38]
Chr6:129813229 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3912T>C (p.Ile1304=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002108746] Chr6:129315938 [GRCh38]
Chr6:129637083 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8796G>C (p.Gly2932=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002086696] Chr6:129507581 [GRCh38]
Chr6:129828726 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1878C>A (p.Ile626=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002188039] Chr6:129250207 [GRCh38]
Chr6:129571352 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7300+18T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002187176] Chr6:129465307 [GRCh38]
Chr6:129786452 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4718-9C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002072476] Chr6:129366210 [GRCh38]
Chr6:129687355 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4058+12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002145791] Chr6:129316183 [GRCh38]
Chr6:129637328 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-11dup duplication LAMA2-related muscular dystrophy [RCV002127238] Chr6:129252065..129252066 [GRCh38]
Chr6:129573210..129573211 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1275C>A (p.Val425=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002185199] Chr6:129165644 [GRCh38]
Chr6:129486789 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+10T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002209617] Chr6:129492087 [GRCh38]
Chr6:129813232 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8865A>T (p.Gly2955=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002129351] Chr6:129512370 [GRCh38]
Chr6:129833515 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4437-4T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002086989] Chr6:129349294 [GRCh38]
Chr6:129670439 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1350T>C (p.Gly450=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002188412] Chr6:129177749 [GRCh38]
Chr6:129498894 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8799A>C (p.Thr2933=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002072563] Chr6:129507584 [GRCh38]
Chr6:129828729 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7155+16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002206258] Chr6:129464468 [GRCh38]
Chr6:129785613 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1542C>T (p.Gly514=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002073901] Chr6:129190279 [GRCh38]
Chr6:129511424 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7188G>A (p.Gly2396=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002125215] Chr6:129465177 [GRCh38]
Chr6:129786322 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4605G>C (p.Leu1535=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002188074] Chr6:129353245 [GRCh38]
Chr6:129674390 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2802T>C (p.Thr934=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002191101] Chr6:129291666 [GRCh38]
Chr6:129612811 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6086-10C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002145824] Chr6:129440806 [GRCh38]
Chr6:129761951 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2541T>C (p.Cys847=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002188289] Chr6:129287850 [GRCh38]
Chr6:129608995 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+19_9211+27dup duplication LAMA2-related muscular dystrophy [RCV002111376] Chr6:129514613..129514614 [GRCh38]
Chr6:129835758..129835759 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8640T>C (p.Asp2880=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002148079] Chr6:129505292 [GRCh38]
Chr6:129826437 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4311+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002072614] Chr6:129328420 [GRCh38]
Chr6:129649565 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4335T>G (p.Gly1445=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002148172] Chr6:129342366 [GRCh38]
Chr6:129663511 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7524A>T (p.Ile2508=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002169391] Chr6:129478765 [GRCh38]
Chr6:129799910 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002091706] Chr6:129250222 [GRCh38]
Chr6:129571367 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-18G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002207979] Chr6:129280043 [GRCh38]
Chr6:129601188 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2094C>T (p.Phe698=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002186959] Chr6:129252293 [GRCh38]
Chr6:129573438 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6086-19T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002091147] Chr6:129440797 [GRCh38]
Chr6:129761942 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7392A>G (p.Ala2464=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002107073] Chr6:129473305 [GRCh38]
Chr6:129794450 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.639+8G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002168962] Chr6:129098423 [GRCh38]
Chr6:129419568 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-7A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002169553] Chr6:129402317 [GRCh38]
Chr6:129723462 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+17G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002209395] Chr6:129445838 [GRCh38]
Chr6:129766983 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-17G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002205728] Chr6:129460183 [GRCh38]
Chr6:129781328 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1602T>C (p.Tyr534=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002145175] Chr6:129190339 [GRCh38]
Chr6:129511484 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5835C>G (p.Ala1945=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002106980] Chr6:129403929 [GRCh38]
Chr6:129725074 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002109548] Chr6:128883366 [GRCh38]
Chr6:129204511 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3000C>T (p.Ala1000=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002091468] Chr6:129297828 [GRCh38]
Chr6:129618973 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-13_7452-10dup duplication LAMA2-related muscular dystrophy [RCV002108280] Chr6:129478678..129478679 [GRCh38]
Chr6:129799823..129799824 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-9G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002088319] Chr6:129250103 [GRCh38]
Chr6:129571248 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-8A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002089893] Chr6:129190197 [GRCh38]
Chr6:129511342 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002071391] Chr6:129514605 [GRCh38]
Chr6:129835750 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1923G>A (p.Val641=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002148231] Chr6:129252122 [GRCh38]
Chr6:129573267 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002085226] Chr6:129315970 [GRCh38]
Chr6:129637115 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3759C>G (p.Leu1253=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002192036] Chr6:129315785 [GRCh38]
Chr6:129636930 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1863C>A (p.Leu621=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002167922] Chr6:129250192 [GRCh38]
Chr6:129571337 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8481T>C (p.Tyr2827=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002092078] Chr6:129503214 [GRCh38]
Chr6:129824359 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6036C>T (p.Leu2012=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002190378] Chr6:129438713 [GRCh38]
Chr6:129759858 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4983C>A (p.Gly1661=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002205939] Chr6:129383145 [GRCh38]
Chr6:129704290 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7611G>C (p.Val2537=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002152881] Chr6:129481301 [GRCh38]
Chr6:129802446 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002086255] Chr6:129481446 [GRCh38]
Chr6:129802591 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4762C>T (p.Arg1588Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002125852]|not provided [RCV003134391] Chr6:129366263 [GRCh38]
Chr6:129687408 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4734C>T (p.Cys1578=) single nucleotide variant LAMA2-related condition [RCV003911214]|LAMA2-related muscular dystrophy [RCV002172551] Chr6:129366235 [GRCh38]
Chr6:129687380 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.45A>G (p.Gly15=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002151983] Chr6:128883290 [GRCh38]
Chr6:129204435 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4794C>T (p.Leu1598=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002213342] Chr6:129366295 [GRCh38]
Chr6:129687440 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7439+9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002096212] Chr6:129473361 [GRCh38]
Chr6:129794506 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7230C>G (p.Ser2410=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002130910] Chr6:129465219 [GRCh38]
Chr6:129786364 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-18T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002194998] Chr6:129270606 [GRCh38]
Chr6:129591751 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2106T>C (p.Ser702=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002116493] Chr6:129260720 [GRCh38]
Chr6:129581865 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2208+17G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002205211] Chr6:129260839 [GRCh38]
Chr6:129581984 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3999A>C (p.Leu1333=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002077030] Chr6:129316112 [GRCh38]
Chr6:129637257 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.174T>C (p.Cys58=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002135078] Chr6:129049979 [GRCh38]
Chr6:129371124 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2673A>G (p.Pro891=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002170779] Chr6:129287982 [GRCh38]
Chr6:129609127 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4170C>T (p.Ser1390=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002193242] Chr6:129320649 [GRCh38]
Chr6:129641794 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.113-8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002095050] Chr6:129049910 [GRCh38]
Chr6:129371055 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002095333] Chr6:129192864 [GRCh38]
Chr6:129514009 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6189T>C (p.Asp2063=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002214990] Chr6:129440919 [GRCh38]
Chr6:129762064 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4491T>C (p.Cys1497=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002164805] Chr6:129349352 [GRCh38]
Chr6:129670497 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+17C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002127847] Chr6:129270768 [GRCh38]
Chr6:129591913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5748C>T (p.Asn1916=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002169294] Chr6:129403842 [GRCh38]
Chr6:129724987 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002174672] Chr6:129252303 [GRCh38]
Chr6:129573448 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7439+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002215903] Chr6:129473359 [GRCh38]
Chr6:129794504 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-12_8858-10dup duplication LAMA2-related muscular dystrophy [RCV002150464] Chr6:129512348..129512349 [GRCh38]
Chr6:129833493..129833494 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3555+8G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002215628] Chr6:129314806 [GRCh38]
Chr6:129635951 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6501C>T (p.Tyr2167=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002153526] Chr6:129453059 [GRCh38]
Chr6:129774204 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-13C>T single nucleotide variant LAMA2-related condition [RCV003958629]|LAMA2-related muscular dystrophy [RCV002093536] Chr6:129456322 [GRCh38]
Chr6:129777467 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4860+11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002093659] Chr6:129366372 [GRCh38]
Chr6:129687517 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1461C>T (p.Ile487=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002133497] Chr6:129177860 [GRCh38]
Chr6:129499005 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2670A>G (p.Lys890=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002080419] Chr6:129287979 [GRCh38]
Chr6:129609124 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8472C>T (p.Tyr2824=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002216028] Chr6:129503205 [GRCh38]
Chr6:129824350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6999G>A (p.Gln2333=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002193864] Chr6:129464296 [GRCh38]
Chr6:129785441 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1372A>C (p.Arg458=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002185401] Chr6:129177771 [GRCh38]
Chr6:129498916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5124G>A (p.Glu1708=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002171931] Chr6:129391543 [GRCh38]
Chr6:129712688 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9270C>A (p.Ser3090=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002195842] Chr6:129516248 [GRCh38]
Chr6:129837393 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1947T>C (p.His649=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002081027] Chr6:129252146 [GRCh38]
Chr6:129573291 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002133028] Chr6:129492089 [GRCh38]
Chr6:129813234 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4440C>T (p.Phe1480=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002212422] Chr6:129349301 [GRCh38]
Chr6:129670446 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-18C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002194048] Chr6:129460182 [GRCh38]
Chr6:129781327 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8490G>A (p.Gly2830=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002088558] Chr6:129503223 [GRCh38]
Chr6:129824368 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3735+19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002110032] Chr6:129315674 [GRCh38]
Chr6:129636819 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2476C>A (p.Arg826=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002148573] Chr6:129280086 [GRCh38]
Chr6:129601231 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9084C>T (p.Val3028=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002133132] Chr6:129514468 [GRCh38]
Chr6:129835613 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5067A>G (p.Ala1689=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002212510] Chr6:129383229 [GRCh38]
Chr6:129704374 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6255T>C (p.Asp2085=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002152700] Chr6:129440985 [GRCh38]
Chr6:129762130 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8361C>T (p.Leu2787=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002167984] Chr6:129503094 [GRCh38]
Chr6:129824239 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4419G>A (p.Leu1473=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002112122] Chr6:129342450 [GRCh38]
Chr6:129663595 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.441C>G (p.Pro147=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002173013] Chr6:129098217 [GRCh38]
Chr6:129419362 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5295T>C (p.Asn1765=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002077555] Chr6:129393105 [GRCh38]
Chr6:129714250 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002196472] Chr6:129505362 [GRCh38]
Chr6:129826507 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5968+15A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002175098] Chr6:129427869 [GRCh38]
Chr6:129749014 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2013A>G (p.Arg671=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002110244] Chr6:129252212 [GRCh38]
Chr6:129573357 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+9T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002150996] Chr6:129267228 [GRCh38]
Chr6:129588373 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+7C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002171845] Chr6:129192860 [GRCh38]
Chr6:129514005 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5196T>C (p.Asn1732=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002134211] Chr6:129391615 [GRCh38]
Chr6:129712760 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.24C>A (p.Leu8=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002153358] Chr6:128883269 [GRCh38]
Chr6:129204414 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8245-8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002133287] Chr6:129502651 [GRCh38]
Chr6:129823796 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1317T>C (p.Pro439=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002077786] Chr6:129177716 [GRCh38]
Chr6:129498861 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.189T>C (p.Pro63=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002150695] Chr6:129049994 [GRCh38]
Chr6:129371139 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7581C>T (p.Tyr2527=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002078237] Chr6:129481271 [GRCh38]
Chr6:129802416 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1128T>C (p.Gly376=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002213265] Chr6:129154605 [GRCh38]
Chr6:129475750 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8357+9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002095581] Chr6:129502780 [GRCh38]
Chr6:129823925 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.432T>C (p.Ala144=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002080010] Chr6:129098208 [GRCh38]
Chr6:129419353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2589G>A (p.Gln863=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002080639] Chr6:129287898 [GRCh38]
Chr6:129609043 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.243G>A (p.Pro81=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002127013] Chr6:129050048 [GRCh38]
Chr6:129371193 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5562+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002097714] Chr6:129401350 [GRCh38]
Chr6:129722495 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3744C>T (p.Ala1248=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002213101] Chr6:129315770 [GRCh38]
Chr6:129636915 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8268A>G (p.Glu2756=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002105893] Chr6:129502682 [GRCh38]
Chr6:129823827 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1563A>C (p.Ser521=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002214730] Chr6:129190300 [GRCh38]
Chr6:129511445 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-18T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002214748] Chr6:129315744 [GRCh38]
Chr6:129636889 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9324C>T (p.Ala3108=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002196447] Chr6:129516302 [GRCh38]
Chr6:129837447 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3048T>C (p.Cys1016=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002165566] Chr6:129300746 [GRCh38]
Chr6:129621891 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1677C>T (p.Asp559=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002093545] Chr6:129192748 [GRCh38]
Chr6:129513893 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002077547] Chr6:129280155 [GRCh38]
Chr6:129601300 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7384T>C (p.Leu2462=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002215940] Chr6:129473297 [GRCh38]
Chr6:129794442 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2124T>G (p.Ala708=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002104335] Chr6:129260738 [GRCh38]
Chr6:129581883 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+13G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002170261] Chr6:129460337 [GRCh38]
Chr6:129781482 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1797A>G (p.Gly599=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002187177] Chr6:129250126 [GRCh38]
Chr6:129571271 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+19_8703+22del deletion LAMA2-related muscular dystrophy [RCV002151896] Chr6:129505372..129505375 [GRCh38]
Chr6:129826517..129826520 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.486A>G (p.Glu162=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002086932] Chr6:129098262 [GRCh38]
Chr6:129419407 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5802T>C (p.Tyr1934=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002208176] Chr6:129403896 [GRCh38]
Chr6:129725041 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5895A>G (p.Glu1965=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002080082] Chr6:129427781 [GRCh38]
Chr6:129748926 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3429C>T (p.Ile1143=) single nucleotide variant LAMA2-related condition [RCV003968845]|LAMA2-related muscular dystrophy [RCV002088279] Chr6:129314672 [GRCh38]
Chr6:129635817 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2686C>A (p.Arg896=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002213300] Chr6:129287995 [GRCh38]
Chr6:129609140 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4494A>G (p.Pro1498=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002213991] Chr6:129349355 [GRCh38]
Chr6:129670500 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8778C>T (p.Thr2926=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002114018] Chr6:129507563 [GRCh38]
Chr6:129828708 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2739G>A (p.Lys913=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002114680] Chr6:129288048 [GRCh38]
Chr6:129609193 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002095539] Chr6:129147061 [GRCh38]
Chr6:129468206 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4401G>A (p.Gln1467=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002105682] Chr6:129342432 [GRCh38]
Chr6:129663577 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2313A>C (p.Gly771=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002164918] Chr6:129267210 [GRCh38]
Chr6:129588355 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8706G>A (p.Val2902=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002109934] Chr6:129507491 [GRCh38]
Chr6:129828636 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6274+19_6274+27del deletion LAMA2-related muscular dystrophy [RCV002086171] Chr6:129443084..129443092 [GRCh38]
Chr6:129764229..129764237 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1788A>G (p.Pro596=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002075166] Chr6:129250117 [GRCh38]
Chr6:129571262 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4177-10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002211590] Chr6:129328268 [GRCh38]
Chr6:129649413 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+10T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002170824] Chr6:129250223 [GRCh38]
Chr6:129571368 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.855G>A (p.Gly285=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002080212] Chr6:129146994 [GRCh38]
Chr6:129468139 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8355C>T (p.Asn2785=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002086439] Chr6:129502769 [GRCh38]
Chr6:129823914 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7791G>A (p.Val2597=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002167992] Chr6:129486515 [GRCh38]
Chr6:129807660 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.396+19dup duplication LAMA2-related muscular dystrophy [RCV002149513] Chr6:129059908..129059909 [GRCh38]
Chr6:129381053..129381054 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6086-4A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002187692] Chr6:129440812 [GRCh38]
Chr6:129761957 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4557C>T (p.Asn1519=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002108693] Chr6:129353197 [GRCh38]
Chr6:129674342 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3039T>C (p.Ala1013=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002076703] Chr6:129300737 [GRCh38]
Chr6:129621882 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9318C>G (p.Ala3106=) single nucleotide variant LAMA2-related condition [RCV003896039]|LAMA2-related muscular dystrophy [RCV002193604] Chr6:129516296 [GRCh38]
Chr6:129837441 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2976A>G (p.Thr992=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002151229] Chr6:129297804 [GRCh38]
Chr6:129618949 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3085C>A (p.Arg1029=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002213579] Chr6:129300783 [GRCh38]
Chr6:129621928 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-14T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002095799] Chr6:129143887 [GRCh38]
Chr6:129465032 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+33371C>T single nucleotide variant not provided [RCV002214407] Chr6:128916728 [GRCh38]
Chr6:129237873 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2649T>G (p.Ser883=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002134802] Chr6:129287958 [GRCh38]
Chr6:129609103 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5730C>A (p.Ile1910=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002171323] Chr6:129403824 [GRCh38]
Chr6:129724969 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8073T>C (p.Ser2691=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002097080] Chr6:129492075 [GRCh38]
Chr6:129813220 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5529C>T (p.Asn1843=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002077427] Chr6:129401307 [GRCh38]
Chr6:129722452 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-6C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002094414] Chr6:129401218 [GRCh38]
Chr6:129722363 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7047A>T (p.Ala2349=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002173408] Chr6:129464344 [GRCh38]
Chr6:129785489 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7440-20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002104975] Chr6:129475370 [GRCh38]
Chr6:129796515 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4059-8G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002093844] Chr6:129320530 [GRCh38]
Chr6:129641675 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4233A>G (p.Gly1411=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002119182] Chr6:129328334 [GRCh38]
Chr6:129649479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8034T>C (p.Pro2678=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002178570] Chr6:129492036 [GRCh38]
Chr6:129813181 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3997C>T (p.Leu1333=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002201426] Chr6:129316110 [GRCh38]
Chr6:129637255 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2424C>G (p.Ala808=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002197710] Chr6:129270725 [GRCh38]
Chr6:129591870 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.18G>T (p.Gly6=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002121292] Chr6:128883263 [GRCh38]
Chr6:129204408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002137348] Chr6:129514353 [GRCh38]
Chr6:129835498 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7992T>C (p.Gly2664=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002218528] Chr6:129491994 [GRCh38]
Chr6:129813139 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8946T>C (p.Ser2982=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002177279] Chr6:129512451 [GRCh38]
Chr6:129833596 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1143T>C (p.Cys381=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002198079] Chr6:129154620 [GRCh38]
Chr6:129475765 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5682G>A (p.Glu1894=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002119642] Chr6:129402443 [GRCh38]
Chr6:129723588 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6780C>T (p.His2260=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002203989] Chr6:129456407 [GRCh38]
Chr6:129777552 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1791A>T (p.Ala597=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002179380] Chr6:129250120 [GRCh38]
Chr6:129571265 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8490G>T (p.Gly2830=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002204123] Chr6:129503223 [GRCh38]
Chr6:129824368 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4659G>A (p.Thr1553=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002137784] Chr6:129353299 [GRCh38]
Chr6:129674444 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+9del deletion LAMA2-related muscular dystrophy [RCV002098648] Chr6:129403968 [GRCh38]
Chr6:129725113 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4332T>C (p.Ala1444=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002158569] Chr6:129342363 [GRCh38]
Chr6:129663508 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002181714] Chr6:129250103 [GRCh38]
Chr6:129571248 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.630A>G (p.Glu210=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002219137] Chr6:129098406 [GRCh38]
Chr6:129419551 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2538-16A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002139684] Chr6:129287831 [GRCh38]
Chr6:129608976 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7300+5_7300+7dup duplication LAMA2-related muscular dystrophy [RCV002141791] Chr6:129465293..129465294 [GRCh38]
Chr6:129786438..129786439 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-4G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002202618] Chr6:129143897 [GRCh38]
Chr6:129465042 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.910-6G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002102907] Chr6:129148973 [GRCh38]
Chr6:129470118 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2184A>G (p.Pro728=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002158571] Chr6:129260798 [GRCh38]
Chr6:129581943 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3871A>G (p.Met1291Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003093856]|not provided [RCV002221754]   uncertain significance
NM_000426.4(LAMA2):c.4950G>T (p.Leu1650=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002198954] Chr6:129369981 [GRCh38]
Chr6:129691126 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1395C>T (p.Asp465=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002178177] Chr6:129177794 [GRCh38]
Chr6:129498939 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5439A>G (p.Ala1813=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002102790] Chr6:129393249 [GRCh38]
Chr6:129714394 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002178363] Chr6:129505364 [GRCh38]
Chr6:129826509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2880A>G (p.Ser960=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002200913] Chr6:129297708 [GRCh38]
Chr6:129618853 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2511C>G (p.Val837=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002199316] Chr6:129280121 [GRCh38]
Chr6:129601266 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5866-20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002123009] Chr6:129427732 [GRCh38]
Chr6:129748877 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.1893C>T (p.Asp631=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002184429] Chr6:129252092 [GRCh38]
Chr6:129573237 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4089A>G (p.Glu1363=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002164755] Chr6:129320568 [GRCh38]
Chr6:129641713 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8769A>G (p.Glu2923=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002099775] Chr6:129507554 [GRCh38]
Chr6:129828699 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1101T>C (p.Asn367=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002218395] Chr6:129154578 [GRCh38]
Chr6:129475723 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6180G>A (p.Gln2060=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002177020] Chr6:129440910 [GRCh38]
Chr6:129762055 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+8G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002139036] Chr6:129369998 [GRCh38]
Chr6:129691143 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9058T>C (p.Leu3020=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002177185] Chr6:129514442 [GRCh38]
Chr6:129835587 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1029A>C (p.Ala343=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002199736] Chr6:129154506 [GRCh38]
Chr6:129475651 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.699A>G (p.Leu233=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002099929] Chr6:129143960 [GRCh38]
Chr6:129465105 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5562+16A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002216430] Chr6:129401356 [GRCh38]
Chr6:129722501 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4740C>G (p.Gly1580=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002135397] Chr6:129366241 [GRCh38]
Chr6:129687386 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2007C>T (p.Val669=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002184464] Chr6:129252206 [GRCh38]
Chr6:129573351 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1551G>A (p.Glu517=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002184527] Chr6:129190288 [GRCh38]
Chr6:129511433 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7512T>G (p.Thr2504=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002081311] Chr6:129478753 [GRCh38]
Chr6:129799898 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4236A>G (p.Pro1412=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002135504] Chr6:129328337 [GRCh38]
Chr6:129649482 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7440-6A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002139242] Chr6:129475384 [GRCh38]
Chr6:129796529 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9252C>T (p.Phe3084=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002159906] Chr6:129516230 [GRCh38]
Chr6:129837375 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7573-7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002137536] Chr6:129481256 [GRCh38]
Chr6:129802401 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7476T>C (p.Tyr2492=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002177340] Chr6:129478717 [GRCh38]
Chr6:129799862 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile) single nucleotide variant LAMA2-related condition [RCV003960967]|LAMA2-related muscular dystrophy [RCV003093969]|Merosin deficient congenital muscular dystrophy [RCV002245524]|Merosin deficient congenital muscular dystrophy [RCV002496181]|not provided [RCV003138119] Chr6:129491980 [GRCh38]
Chr6:129813125 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6870G>A (p.Lys2290=) single nucleotide variant LAMA2-related condition [RCV003893237]|LAMA2-related muscular dystrophy [RCV002083608] Chr6:129460202 [GRCh38]
Chr6:129781347 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+9G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002220727] Chr6:129190354 [GRCh38]
Chr6:129511499 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3425G>C (p.Gly1142Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002218956] Chr6:129314668 [GRCh38]
Chr6:129635813 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+11A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002177679] Chr6:129280158 [GRCh38]
Chr6:129601303 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5232G>A (p.Leu1744=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002204083] Chr6:129391651 [GRCh38]
Chr6:129712796 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2952A>G (p.Gln984=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002183235] Chr6:129297780 [GRCh38]
Chr6:129618925 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9147A>G (p.Gln3049=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002156440] Chr6:129514531 [GRCh38]
Chr6:129835676 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4239C>G (p.Thr1413=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002143307] Chr6:129328340 [GRCh38]
Chr6:129649485 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1815C>T (p.Thr605=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002219223] Chr6:129250144 [GRCh38]
Chr6:129571289 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5169G>A (p.Gln1723=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002154749] Chr6:129391588 [GRCh38]
Chr6:129712733 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3921A>G (p.Thr1307=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002118322] Chr6:129315947 [GRCh38]
Chr6:129637092 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-4G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002143631] Chr6:129456331 [GRCh38]
Chr6:129777476 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-13T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002143641] Chr6:129143888 [GRCh38]
Chr6:129465033 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4718-11C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002198672] Chr6:129366208 [GRCh38]
Chr6:129687353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002219417] Chr6:129252070 [GRCh38]
Chr6:129573215 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+7T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002156830] Chr6:128883364 [GRCh38]
Chr6:129204509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6048G>A (p.Leu2016=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002122317] Chr6:129438725 [GRCh38]
Chr6:129759870 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1512C>T (p.Phe504=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002160813] Chr6:129190249 [GRCh38]
Chr6:129511394 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+6dup duplication LAMA2-related muscular dystrophy [RCV002099011] Chr6:129252297..129252298 [GRCh38]
Chr6:129573442..129573443 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+10G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002143802] Chr6:129288068 [GRCh38]
Chr6:129609213 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8757T>G (p.Pro2919=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002101081] Chr6:129507542 [GRCh38]
Chr6:129828687 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6651A>G (p.Val2217=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002118861] Chr6:129454232 [GRCh38]
Chr6:129775377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6193C>T (p.Leu2065=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002101196] Chr6:129440923 [GRCh38]
Chr6:129762068 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002101223] Chr6:129478831 [GRCh38]
Chr6:129799976 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002164519] Chr6:129313117 [GRCh38]
Chr6:129634262 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2906G>A (p.Cys969Tyr) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002259559] Chr6:129297734 [GRCh38]
Chr6:129618879 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4164C>A (p.Gly1388=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002082720] Chr6:129320643 [GRCh38]
Chr6:129641788 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+11T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002155612] Chr6:129315961 [GRCh38]
Chr6:129637106 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+16A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002103371] Chr6:129492499 [GRCh38]
Chr6:129813644 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-1G>A single nucleotide variant Proximal muscle weakness [RCV002223148] Chr6:129297684 [GRCh38]
Chr6:129618829 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7908A>C (p.Thr2636=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002101597] Chr6:129491910 [GRCh38]
Chr6:129813055 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1306+16G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002081211] Chr6:129165691 [GRCh38]
Chr6:129486836 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4926A>C (p.Thr1642=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002137257] Chr6:129369957 [GRCh38]
Chr6:129691102 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3522G>A (p.Gln1174=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002099904] Chr6:129314765 [GRCh38]
Chr6:129635910 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7451+8T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002139047] Chr6:129475409 [GRCh38]
Chr6:129796554 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4059-12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002101852] Chr6:129320526 [GRCh38]
Chr6:129641671 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8844T>C (p.Gly2948=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002097885] Chr6:129507629 [GRCh38]
Chr6:129828774 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+16_2749+22del deletion LAMA2-related muscular dystrophy [RCV002163037] Chr6:129288074..129288080 [GRCh38]
Chr6:129609219..129609225 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3402C>T (p.Cys1134=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002117733] Chr6:129313088 [GRCh38]
Chr6:129634233 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+19G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002220540] Chr6:129252314 [GRCh38]
Chr6:129573459 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4860+12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002218766] Chr6:129366373 [GRCh38]
Chr6:129687518 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+10A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002159459] Chr6:129291730 [GRCh38]
Chr6:129612875 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4436+18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002117847]|not specified [RCV002271720] Chr6:129342485 [GRCh38]
Chr6:129663630 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.9212-9C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002177447] Chr6:129516181 [GRCh38]
Chr6:129837326 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8859T>C (p.Val2953=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002103604] Chr6:129512364 [GRCh38]
Chr6:129833509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.828C>T (p.Tyr276=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002182687] Chr6:129146967 [GRCh38]
Chr6:129468112 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+7T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002144528] Chr6:129250220 [GRCh38]
Chr6:129571365 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6430-2del deletion LAMA2-related muscular dystrophy [RCV002135805] Chr6:129452984 [GRCh38]
Chr6:129774129 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-16_3736-14del microsatellite LAMA2-related muscular dystrophy [RCV002102182] Chr6:129315741..129315743 [GRCh38]
Chr6:129636886..129636888 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2325C>T (p.Asn775=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002220743] Chr6:129270626 [GRCh38]
Chr6:129591771 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.186A>T (p.Gly62=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002163375] Chr6:129049991 [GRCh38]
Chr6:129371136 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7128T>C (p.Leu2376=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002198375] Chr6:129464425 [GRCh38]
Chr6:129785570 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4523+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002219130] Chr6:129349394 [GRCh38]
Chr6:129670539 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.285G>A (p.Gln95=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002159671] Chr6:129059785 [GRCh38]
Chr6:129380930 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.438C>A (p.Ser146=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002183025] Chr6:129098214 [GRCh38]
Chr6:129419359 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2034T>C (p.Leu678=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002161698] Chr6:129252233 [GRCh38]
Chr6:129573378 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4311+8T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002181276] Chr6:129328420 [GRCh38]
Chr6:129649565 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-6C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002181299] Chr6:129312855 [GRCh38]
Chr6:129634000 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5757C>T (p.Phe1919=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002198647] Chr6:129403851 [GRCh38]
Chr6:129724996 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3177T>C (p.Ala1059=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002217404] Chr6:129312863 [GRCh38]
Chr6:129634008 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2379T>C (p.Tyr793=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002198708] Chr6:129270680 [GRCh38]
Chr6:129591825 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6369A>C (p.Leu2123=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002084297] Chr6:129445761 [GRCh38]
Chr6:129766906 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4692T>C (p.His1564=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002203812] Chr6:129353332 [GRCh38]
Chr6:129674477 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002161925] Chr6:129280163 [GRCh38]
Chr6:129601308 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.553C>T (p.Arg185Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002202526]|not provided [RCV003134379] Chr6:129098329 [GRCh38]
Chr6:129419474 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.8046C>T (p.Gly2682=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002181557] Chr6:129492048 [GRCh38]
Chr6:129813193 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1668C>G (p.Pro556=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002180062] Chr6:129192739 [GRCh38]
Chr6:129513884 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002201081] Chr6:129297676 [GRCh38]
Chr6:129618821 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6807G>A (p.Thr2269=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002099421] Chr6:129456434 [GRCh38]
Chr6:129777579 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1332C>T (p.Cys444=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002178712] Chr6:129177731 [GRCh38]
Chr6:129498876 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3795A>G (p.Thr1265=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002155698] Chr6:129315821 [GRCh38]
Chr6:129636966 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002203321] Chr6:129098164 [GRCh38]
Chr6:129419309 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1476T>G (p.Val492=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002203001] Chr6:129190213 [GRCh38]
Chr6:129511358 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5406C>T (p.Arg1802=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002159596] Chr6:129393216 [GRCh38]
Chr6:129714361 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4092A>G (p.Gln1364=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002183165] Chr6:129320571 [GRCh38]
Chr6:129641716 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5457G>A (p.Glu1819=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002083355] Chr6:129401235 [GRCh38]
Chr6:129722380 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-10del deletion LAMA2-related muscular dystrophy [RCV002137570] Chr6:129402314 [GRCh38]
Chr6:129723459 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1425G>A (p.Gly475=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002221002] Chr6:129177824 [GRCh38]
Chr6:129498969 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4164C>T (p.Gly1388=) single nucleotide variant LAMA2-related condition [RCV003903502]|LAMA2-related muscular dystrophy [RCV002123618] Chr6:129320643 [GRCh38]
Chr6:129641788 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8826A>C (p.Thr2942=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002175898] Chr6:129507611 [GRCh38]
Chr6:129828756 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.18G>C (p.Gly6=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002083916] Chr6:128883263 [GRCh38]
Chr6:129204408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7056C>T (p.Ser2352=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002123294] Chr6:129464353 [GRCh38]
Chr6:129785498 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4956C>A (p.Thr1652=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002081686] Chr6:129369987 [GRCh38]
Chr6:129691132 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2268A>G (p.Pro756=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002083747] Chr6:129267165 [GRCh38]
Chr6:129588310 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4044C>T (p.Phe1348=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002081959] Chr6:129316157 [GRCh38]
Chr6:129637302 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.564A>G (p.Pro188=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002104045] Chr6:129098340 [GRCh38]
Chr6:129419485 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6462C>T (p.Cys2154=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002098516] Chr6:129453020 [GRCh38]
Chr6:129774165 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8547+19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002198554] Chr6:129503299 [GRCh38]
Chr6:129824444 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+10G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002157039] Chr6:129460334 [GRCh38]
Chr6:129781479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6678C>T (p.Asp2226=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002184009] Chr6:129454259 [GRCh38]
Chr6:129775404 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7860T>C (p.Asp2620=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002098905] Chr6:129486584 [GRCh38]
Chr6:129807729 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1473T>C (p.Asn491=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002136451] Chr6:129190210 [GRCh38]
Chr6:129511355 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-18T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002101253] Chr6:129516172 [GRCh38]
Chr6:129837317 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7156-12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002217671] Chr6:129465133 [GRCh38]
Chr6:129786278 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.639+7T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002155155] Chr6:129098422 [GRCh38]
Chr6:129419567 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1027+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002178648] Chr6:129149105 [GRCh38]
Chr6:129470250 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.648C>A (p.Ile216=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002202830] Chr6:129143909 [GRCh38]
Chr6:129465054 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7320T>C (p.Asp2440=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002103185] Chr6:129473233 [GRCh38]
Chr6:129794378 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8344A>G (p.Lys2782Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002218140]|not provided [RCV003134380] Chr6:129502758 [GRCh38]
Chr6:129823903 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5928G>A (p.Arg1976=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002184503] Chr6:129427814 [GRCh38]
Chr6:129748959 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5298A>G (p.Glu1766=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002201141] Chr6:129393108 [GRCh38]
Chr6:129714253 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002140442] Chr6:129143894 [GRCh38]
Chr6:129465039 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4311+7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002157565] Chr6:129328419 [GRCh38]
Chr6:129649564 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8343C>T (p.Thr2781=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002144542] Chr6:129502757 [GRCh38]
Chr6:129823902 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1971A>G (p.Glu657=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002099457] Chr6:129252170 [GRCh38]
Chr6:129573315 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8655G>C (p.Leu2885=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002138828] Chr6:129505307 [GRCh38]
Chr6:129826452 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+19_8988+22dup duplication LAMA2-related muscular dystrophy [RCV002103143] Chr6:129512509..129512510 [GRCh38]
Chr6:129833654..129833655 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+20C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002144651] Chr6:129252315 [GRCh38]
Chr6:129573460 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7899-5A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003115241] Chr6:129491896 [GRCh38]
Chr6:129813041 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2267C>T (p.Pro756Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003112598] Chr6:129267164 [GRCh38]
Chr6:129588309 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7737G>A (p.Arg2579=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003111984] Chr6:129481427 [GRCh38]
Chr6:129802572 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3218A>G (p.Asn1073Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003115452] Chr6:129312904 [GRCh38]
Chr6:129634049 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4855C>T (p.Leu1619=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003117093] Chr6:129366356 [GRCh38]
Chr6:129687501 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.406A>G (p.Ile136Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003115555] Chr6:129098182 [GRCh38]
Chr6:129419327 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8625del (p.Ala2876fs) deletion LAMA2-related muscular dystrophy [RCV003112187] Chr6:129505272 [GRCh38]
Chr6:129826417 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129581836)_(129581987_?)del deletion LAMA2-related muscular dystrophy [RCV003111190] Chr6:129581836..129581987 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129588231)_(129588384_?)del deletion LAMA2-related muscular dystrophy [RCV003111191] Chr6:129588231..129588384 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129612749)_(129612875_?)del deletion LAMA2-related muscular dystrophy [RCV003111192] Chr6:129612749..129612875 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129704247)_(129704398_?)del deletion LAMA2-related muscular dystrophy [RCV003111194] Chr6:129704247..129704398 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129649403)_(129649577_?)del deletion LAMA2-related muscular dystrophy [RCV003111193] Chr6:129649403..129649577 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NC_000006.11:g.(?_129419298)_(129419580_?)del deletion LAMA2-related muscular dystrophy [RCV003111195] Chr6:129419298..129419580 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129826335)_(129826510_?)del deletion LAMA2-related muscular dystrophy [RCV003111196] Chr6:129826335..129826510 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129204391)_(129514018_?)del deletion LAMA2-related muscular dystrophy [RCV003111197] Chr6:129204391..129514018 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129581836)_(129588384_?)del deletion LAMA2-related muscular dystrophy [RCV003111198] Chr6:129581836..129588384 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129601186)_(129674522_?)del deletion LAMA2-related muscular dystrophy [RCV003111199] Chr6:129601186..129674522 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129371043)_(129499031_?)del deletion LAMA2-related muscular dystrophy [RCV003111200] Chr6:129371043..129499031 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129371053)_(129725114_?)del deletion LAMA2-related muscular dystrophy [RCV003111201] Chr6:129371053..129725114 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129687354)_(129723642_?)del deletion LAMA2-related muscular dystrophy [RCV003111202] Chr6:129687354..129723642 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129419305)_(129514008_?)del deletion LAMA2-related muscular dystrophy [RCV003111203] Chr6:129419305..129514008 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129766802)_(129837502_?)del deletion LAMA2-related muscular dystrophy [RCV003111204] Chr6:129766802..129837502 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129601186)_(129637336_?)dup duplication LAMA2-related muscular dystrophy [RCV003111205] Chr6:129601186..129637336 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(?_129601196)_(129691145_?)dup duplication LAMA2-related muscular dystrophy [RCV003111206] Chr6:129601196..129691145 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NC_000006.11:g.(?_129371053)_(129381051_?)dup duplication LAMA2-related muscular dystrophy [RCV003111207] Chr6:129371053..129381051 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NC_000006.11:g.(?_129766802)_(129777649_?)dup duplication LAMA2-related muscular dystrophy [RCV003111208] Chr6:129766802..129777649 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NC_000006.11:g.(?_129687344)_(129691155_?)del deletion LAMA2-related muscular dystrophy [RCV003111209] Chr6:129687344..129691155 [GRCh37]
Chr6:6q22.33		 pathogenic
NC_000006.11:g.(?_129663468)_(129663632_?)dup duplication LAMA2-related muscular dystrophy [RCV003111210] Chr6:129663468..129663632 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1885-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003121428] Chr6:129252083 [GRCh38]
Chr6:129573228 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6191G>A (p.Gly2064Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV003122631] Chr6:129440921 [GRCh38]
Chr6:129762066 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8764C>T (p.Leu2922=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003118999] Chr6:129507549 [GRCh38]
Chr6:129828694 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9138G>A (p.Val3046=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003105066] Chr6:129514522 [GRCh38]
Chr6:129835667 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.436_437delinsAA (p.Ser146Asn) indel not provided [RCV003327862] Chr6:129098212..129098213 [GRCh38]
Chr6:129419357..129419358 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.12:g.128960376_129175759del deletion Merosin deficient congenital muscular dystrophy [RCV003313803] Chr6:128960376..129175759 [GRCh38]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu) single nucleotide variant LAMA2-related condition [RCV003971209]|LAMA2-related muscular dystrophy [RCV003093968]|Merosin deficient congenital muscular dystrophy [RCV002245523]|not provided [RCV003130696] Chr6:129320597 [GRCh38]
Chr6:129641742 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6836T>G (p.Leu2279Arg) single nucleotide variant not provided [RCV003131417] Chr6:129456463 [GRCh38]
Chr6:129777608 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8157_8159del (p.Glu2719del) deletion not provided [RCV003131437] Chr6:129492394..129492396 [GRCh38]
Chr6:129813539..129813541 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2702G>T (p.Cys901Phe) single nucleotide variant not provided [RCV003131444] Chr6:129288011 [GRCh38]
Chr6:129609156 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5968+5G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002273209] Chr6:129427859 [GRCh38]
Chr6:129749004 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2008C>T (p.Arg670Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003096203]|not provided [RCV002276320] Chr6:129252207 [GRCh38]
Chr6:129573352 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3626del (p.Gly1209fs) deletion Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002289019] Chr6:129315544 [GRCh38]
Chr6:129636689 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8041G>C (p.Glu2681Gln) single nucleotide variant not provided [RCV002261801] Chr6:129492043 [GRCh38]
Chr6:129813188 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6151G>A (p.Val2051Ile) single nucleotide variant not provided [RCV002261798] Chr6:129440881 [GRCh38]
Chr6:129762026 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.554G>T (p.Arg185Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003096023]|not specified [RCV002266277] Chr6:129098330 [GRCh38]
Chr6:129419475 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6328A>G (p.Ile2110Val) single nucleotide variant not provided [RCV002261799] Chr6:129445720 [GRCh38]
Chr6:129766865 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6636_6637del (p.Gly2213fs) deletion Merosin deficient congenital muscular dystrophy [RCV002283807] Chr6:129454217..129454218 [GRCh38]
Chr6:129775362..129775363 [GRCh37]
Chr6:6q22.33		 pathogenic
Single allele deletion Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002294568] Chr6:129376140..129458794 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5266A>T (p.Lys1756Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002272708] Chr6:129393076 [GRCh38]
Chr6:129714221 [GRCh37]
Chr6:6q22.33		 pathogenic
Single allele complex Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002294569] Chr6:129724438..130175925 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.639+1del deletion Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002288291] Chr6:129098415 [GRCh38]
Chr6:129419560 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8222C>T (p.Thr2741Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV003096062]|not provided [RCV002267300] Chr6:129492461 [GRCh38]
Chr6:129813606 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.301A>G (p.Asn101Asp) single nucleotide variant not provided [RCV002261796] Chr6:129059801 [GRCh38]
Chr6:129380946 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8342C>A (p.Thr2781Asn) single nucleotide variant Inborn genetic diseases [RCV003164376]|not provided [RCV002261802] Chr6:129502756 [GRCh38]
Chr6:129823901 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3033C>A (p.Cys1011Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002290291] Chr6:129297861 [GRCh38]
Chr6:129619006 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7216T>C (p.Ser2406Pro) single nucleotide variant not specified [RCV002266276] Chr6:129465205 [GRCh38]
Chr6:129786350 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2718del (p.Phe906fs) deletion Merosin deficient congenital muscular dystrophy [RCV002281661] Chr6:129288024 [GRCh38]
Chr6:129609169 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7452-16T>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002281662] Chr6:129478677 [GRCh38]
Chr6:129799822 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8479T>A (p.Tyr2827Asn) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002289020] Chr6:129503212 [GRCh38]
Chr6:129824357 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4181G>A (p.Cys1394Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002297741] Chr6:129328282 [GRCh38]
Chr6:129649427 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2353T>A (p.Cys785Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002297339] Chr6:129270654 [GRCh38]
Chr6:129591799 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4234C>T (p.Pro1412Ser) single nucleotide variant not provided [RCV002261797] Chr6:129328335 [GRCh38]
Chr6:129649480 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7439+6T>G single nucleotide variant not provided [RCV002261800] Chr6:129473358 [GRCh38]
Chr6:129794503 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5654A>G (p.Lys1885Arg) single nucleotide variant not specified [RCV002266278] Chr6:129402415 [GRCh38]
Chr6:129723560 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4342T>C (p.Cys1448Arg) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002468739]|not specified [RCV003324038] Chr6:129342373 [GRCh38]
Chr6:129663518 [GRCh37]
Chr6:6q22.33		 likely pathogenic|uncertain significance
NM_000426.4(LAMA2):c.4733G>A (p.Cys1578Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002297511] Chr6:129366234 [GRCh38]
Chr6:129687379 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5122G>T (p.Glu1708Ter) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV002466827] Chr6:129391541 [GRCh38]
Chr6:129712686 [GRCh37]
Chr6:6q22.33		 pathogenic
GRCh37/hg19 6q22.33(chr6:129591287-130020873)x3 copy number gain not provided [RCV002474904] Chr6:129591287..130020873 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5728A>T (p.Ile1910Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002303279] Chr6:129403822 [GRCh38]
Chr6:129724967 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.827A>C (p.Tyr276Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002295062] Chr6:129146966 [GRCh38]
Chr6:129468111 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1429A>T (p.Lys477Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306747] Chr6:129177828 [GRCh38]
Chr6:129498973 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1929_1931delinsT (p.His644fs) indel Merosin deficient congenital muscular dystrophy [RCV002306749] Chr6:129252128..129252130 [GRCh38]
Chr6:129573273..129573275 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7675G>T (p.Glu2559Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306867] Chr6:129481365 [GRCh38]
Chr6:129802510 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5339A>G (p.Lys1780Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002299554] Chr6:129393149 [GRCh38]
Chr6:129714294 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8377_8383del (p.Val2793fs) deletion Merosin deficient congenital muscular dystrophy [RCV002306906] Chr6:129503107..129503113 [GRCh38]
Chr6:129824252..129824258 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6643G>T (p.Gly2215Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002307092] Chr6:129454224 [GRCh38]
Chr6:129775369 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4167_4170del (p.Ser1390fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307118] Chr6:129320646..129320649 [GRCh38]
Chr6:129641791..129641794 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4414C>T (p.Pro1472Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002304416] Chr6:129342445 [GRCh38]
Chr6:129663590 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9227_9243dup (p.Ile3082delinsLeuAlaTer) duplication Merosin deficient congenital muscular dystrophy [RCV003231060] Chr6:129516200..129516201 [GRCh38]
Chr6:129837345..129837346 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2164G>A (p.Glu722Lys) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002310595] Chr6:129260778 [GRCh38]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.512_513del (p.Val171fs) microsatellite Merosin deficient congenital muscular dystrophy [RCV002308332] Chr6:129098286..129098287 [GRCh38]
Chr6:129419431..129419432 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7367A>G (p.Asn2456Ser) single nucleotide variant not provided [RCV003131436] Chr6:129473280 [GRCh38]
Chr6:129794425 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7776G>C (p.Arg2592Ser) single nucleotide variant not provided [RCV003131448] Chr6:129486500 [GRCh38]
Chr6:129807645 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8704-401_8704-400insAAAATTGGGCCCCCCTGGGCGCGGTGGATCAAGCCTGTAATCCAGCACTTTGGGAGGGCCGAGGCCGGCGGATCCGAGGTCAGGAGATCCGAGACCATCCGAGCTAAAACGGTGAATTGAAACCCCGTCTTACTAAAAAATTACAAAAATTAGTCCGGGCTAGTGGCGGGCGATGTAGTCCAGCTACTGGGAGGCTGAGGCAGGAGAATGGCCCAGGGGAAACCCGGGAGGCGGGAGCTTGCAGAGCTGAGCCGAGGTCCCCGCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA microsatellite Schizophrenia [RCV002463544] Chr6:129507085..129507086 [GRCh38]
Chr6:129828230..129828231 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6232A>T (p.Lys2078Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002307299] Chr6:129440962 [GRCh38]
Chr6:129762107 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7489A>T (p.Lys2497Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002307318] Chr6:129478730 [GRCh38]
Chr6:129799875 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2400_2401insAGGAAGACATTTA (p.Ser801fs) insertion Merosin deficient congenital muscular dystrophy [RCV002309264] Chr6:129270701..129270702 [GRCh38]
Chr6:129591846..129591847 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2879C>G (p.Ser960Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309372] Chr6:129297707 [GRCh38]
Chr6:129618852 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2395G>T (p.Gly799Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309622] Chr6:129270696 [GRCh38]
Chr6:129591841 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1195_1198del (p.Arg399fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309222] Chr6:129154671..129154674 [GRCh38]
Chr6:129475816..129475819 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8781del (p.Ser2928fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309292] Chr6:129507565 [GRCh38]
Chr6:129828710 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1011del (p.Thr339fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309295] Chr6:129149080 [GRCh38]
Chr6:129470225 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7658C>A (p.Ser2553Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309332] Chr6:129481348 [GRCh38]
Chr6:129802493 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1233C>A (p.Cys411Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581818]|Merosin deficient congenital muscular dystrophy [RCV002309340]|Merosin deficient congenital muscular dystrophy [RCV003471327] Chr6:129165602 [GRCh38]
Chr6:129486747 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2471T>A (p.Leu824Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309376] Chr6:129280081 [GRCh38]
Chr6:129601226 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7280_7283del (p.Leu2427fs) deletion Merosin deficient congenital muscular dystrophy [RCV002308292] Chr6:129465267..129465270 [GRCh38]
Chr6:129786412..129786415 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4576G>T (p.Glu1526Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002308343] Chr6:129353216 [GRCh38]
Chr6:129674361 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1289_1290insT (p.Glu430fs) insertion Merosin deficient congenital muscular dystrophy [RCV002309716] Chr6:129165658..129165659 [GRCh38]
Chr6:129486803..129486804 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3705G>A (p.Trp1235Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309817] Chr6:129315625 [GRCh38]
Chr6:129636770 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2670del (p.Lys890fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309408] Chr6:129287977 [GRCh38]
Chr6:129609122 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.507_508insCAAGAGA (p.Ala170fs) insertion Merosin deficient congenital muscular dystrophy [RCV002309419] Chr6:129098283..129098284 [GRCh38]
Chr6:129419428..129419429 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3139_3140insT (p.Asn1047fs) insertion Merosin deficient congenital muscular dystrophy [RCV002309454] Chr6:129300837..129300838 [GRCh38]
Chr6:129621982..129621983 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2404G>T (p.Glu802Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309458] Chr6:129270705 [GRCh38]
Chr6:129591850 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7834A>T (p.Arg2612Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309612] Chr6:129486558 [GRCh38]
Chr6:129807703 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5184del (p.Arg1729fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309614] Chr6:129391603 [GRCh38]
Chr6:129712748 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7578_7579del (p.Tyr2527fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309634] Chr6:129481267..129481268 [GRCh38]
Chr6:129802412..129802413 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5836A>T (p.Lys1946Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002310291] Chr6:129403930 [GRCh38]
Chr6:129725075 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5284dup (p.Arg1762fs) duplication Merosin deficient congenital muscular dystrophy [RCV002306481] Chr6:129393091..129393092 [GRCh38]
Chr6:129714236..129714237 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8712T>A (p.Tyr2904Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002310021] Chr6:129507497 [GRCh38]
Chr6:129828642 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2916del (p.Phe972fs) deletion LAMA2-related muscular dystrophy [RCV003102299]|Merosin deficient congenital muscular dystrophy [RCV002310084] Chr6:129297741 [GRCh38]
Chr6:129618886 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.4110delinsTTTTT (p.Met1370fs) indel Merosin deficient congenital muscular dystrophy [RCV002306588] Chr6:129320589 [GRCh38]
Chr6:129641734 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7374del (p.Phe2458fs) deletion Merosin deficient congenital muscular dystrophy [RCV002306631]|Merosin deficient congenital muscular dystrophy [RCV003471324] Chr6:129473285 [GRCh38]
Chr6:129794430 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1365del (p.Cys456fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310168] Chr6:129177763 [GRCh38]
Chr6:129498908 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8519C>A (p.Thr2840Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002301306] Chr6:129503252 [GRCh38]
Chr6:129824397 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8597_8598insAA (p.Ser2867fs) insertion Merosin deficient congenital muscular dystrophy [RCV002308285] Chr6:129505249..129505250 [GRCh38]
Chr6:129826394..129826395 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3409A>T (p.Lys1137Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002308353] Chr6:129313095 [GRCh38]
Chr6:129634240 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6687G>A (p.Trp2229Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306688] Chr6:129454268 [GRCh38]
Chr6:129775413 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5851G>T (p.Glu1951Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306711] Chr6:129403945 [GRCh38]
Chr6:129725090 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3290_3291del (p.His1097fs) deletion Merosin deficient congenital muscular dystrophy [RCV002306737] Chr6:129312975..129312976 [GRCh38]
Chr6:129634120..129634121 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.389del (p.Leu130fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310224] Chr6:129059887 [GRCh38]
Chr6:129381032 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1629G>A (p.Trp543Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002310546] Chr6:129192700 [GRCh38]
Chr6:129513845 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4973C>T (p.Thr1658Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002299455] Chr6:129383135 [GRCh38]
Chr6:129704280 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8430_8431insAG (p.Ala2811fs) insertion Merosin deficient congenital muscular dystrophy [RCV002306467] Chr6:129503163..129503164 [GRCh38]
Chr6:129824308..129824309 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.424A>G (p.Lys142Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002296395] Chr6:129098200 [GRCh38]
Chr6:129419345 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5568_5569delinsA (p.Glu1857fs) indel Merosin deficient congenital muscular dystrophy [RCV002306530] Chr6:129402329..129402330 [GRCh38]
Chr6:129723474..129723475 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2811T>A (p.Cys937Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306667] Chr6:129291675 [GRCh38]
Chr6:129612820 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8603dup (p.Asn2868fs) duplication Merosin deficient congenital muscular dystrophy [RCV002307098] Chr6:129505253..129505254 [GRCh38]
Chr6:129826398..129826399 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2166dup (p.Val723fs) duplication Merosin deficient congenital muscular dystrophy [RCV002307101] Chr6:129260778..129260779 [GRCh38]
Chr6:129581923..129581924 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1097T>A (p.Leu366Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306911] Chr6:129154574 [GRCh38]
Chr6:129475719 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1658G>C (p.Arg553Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002296273]|not provided [RCV003134424] Chr6:129192729 [GRCh38]
Chr6:129513874 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4913delinsAATAAAGAGAGACAGCA (p.Gly1638delinsGluTer) indel Merosin deficient congenital muscular dystrophy [RCV002309071] Chr6:129369944 [GRCh38]
Chr6:129691089 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7621_7622insTA (p.Pro2541fs) insertion Merosin deficient congenital muscular dystrophy [RCV002309168] Chr6:129481311..129481312 [GRCh38]
Chr6:129802456..129802457 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4752_4753del (p.Asp1585fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309176] Chr6:129366252..129366253 [GRCh38]
Chr6:129687397..129687398 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7071G>T (p.Trp2357Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002301496] Chr6:129464368 [GRCh38]
Chr6:129785513 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.731_732del (p.Arg244fs) microsatellite Merosin deficient congenital muscular dystrophy [RCV002306712] Chr6:129143990..129143991 [GRCh38]
Chr6:129465135..129465136 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5062del (p.Asp1688fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307997] Chr6:129383222 [GRCh38]
Chr6:129704367 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5913_5914del (p.Gln1972fs) deletion Merosin deficient congenital muscular dystrophy [RCV002306847] Chr6:129427799..129427800 [GRCh38]
Chr6:129748944..129748945 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2521G>T (p.Gly841Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306925] Chr6:129280131 [GRCh38]
Chr6:129601276 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7142delinsGT (p.Ala2381fs) indel Merosin deficient congenital muscular dystrophy [RCV002306964] Chr6:129464439 [GRCh38]
Chr6:129785584 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7583_7584del (p.Thr2528fs) microsatellite Merosin deficient congenital muscular dystrophy [RCV002306969] Chr6:129481270..129481271 [GRCh38]
Chr6:129802415..129802416 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3421del (p.Glu1141fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307002] Chr6:129314663 [GRCh38]
Chr6:129635808 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4504G>T (p.Glu1502Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002307027] Chr6:129349365 [GRCh38]
Chr6:129670510 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2348del (p.Pro783fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307155] Chr6:129270647 [GRCh38]
Chr6:129591792 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4294G>T (p.Glu1432Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002307164] Chr6:129328395 [GRCh38]
Chr6:129649540 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3770T>C (p.Ile1257Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002299156] Chr6:129315796 [GRCh38]
Chr6:129636941 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.716G>C (p.Arg239Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002301521] Chr6:129143977 [GRCh38]
Chr6:129465122 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1686_1687insA (p.Ser563fs) insertion Merosin deficient congenital muscular dystrophy [RCV002309143] Chr6:129192757..129192758 [GRCh38]
Chr6:129513902..129513903 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7296del (p.Lys2432fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309148] Chr6:129465281 [GRCh38]
Chr6:129786426 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7703G>A (p.Gly2568Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002303085] Chr6:129481393 [GRCh38]
Chr6:129802538 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1669del (p.Gln557fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309693] Chr6:129192737 [GRCh38]
Chr6:129513882 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4106del (p.Thr1369fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309993] Chr6:129320585 [GRCh38]
Chr6:129641730 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5673_5674del (p.Gln1892fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307927] Chr6:129402433..129402434 [GRCh38]
Chr6:129723578..129723579 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2461_2476del (p.Thr821fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309742] Chr6:129280071..129280086 [GRCh38]
Chr6:129601216..129601231 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3896T>A (p.Leu1299Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002309843] Chr6:129315922 [GRCh38]
Chr6:129637067 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2006_2012del (p.Val669fs) deletion Merosin deficient congenital muscular dystrophy [RCV002309902] Chr6:129252203..129252209 [GRCh38]
Chr6:129573348..129573354 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.286A>T (p.Arg96Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002310069] Chr6:129059786 [GRCh38]
Chr6:129380931 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6146_6147del (p.Lys2049fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310311] Chr6:129440875..129440876 [GRCh38]
Chr6:129762020..129762021 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6560del (p.Gly2187fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310330] Chr6:129453117 [GRCh38]
Chr6:129774262 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1533_1534insG (p.Trp512fs) insertion Merosin deficient congenital muscular dystrophy [RCV002310569] Chr6:129190270..129190271 [GRCh38]
Chr6:129511415..129511416 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2783_2784del (p.Glu928fs) deletion Merosin deficient congenital muscular dystrophy [RCV002308113] Chr6:129291646..129291647 [GRCh38]
Chr6:129612791..129612792 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4397_4398del (p.Cys1466fs) deletion Merosin deficient congenital muscular dystrophy [RCV002308207] Chr6:129342427..129342428 [GRCh38]
Chr6:129663572..129663573 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6030_6031del (p.Asp2011fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310040] Chr6:129438705..129438706 [GRCh38]
Chr6:129759850..129759851 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4819_4825del (p.Lys1607fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310233] Chr6:129366320..129366326 [GRCh38]
Chr6:129687465..129687471 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7215_7217delinsA (p.Ser2406fs) indel Merosin deficient congenital muscular dystrophy [RCV002310249] Chr6:129465204..129465206 [GRCh38]
Chr6:129786349..129786351 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6248_6249del (p.Val2083fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310286] Chr6:129440978..129440979 [GRCh38]
Chr6:129762123..129762124 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2776_2782del (p.Phe926fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310432] Chr6:129291640..129291646 [GRCh38]
Chr6:129612785..129612791 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7976del (p.Lys2659fs) deletion Merosin deficient congenital muscular dystrophy [RCV002310477] Chr6:129491974 [GRCh38]
Chr6:129813119 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7126_7127insA (p.Leu2376fs) insertion Merosin deficient congenital muscular dystrophy [RCV002307024] Chr6:129464423..129464424 [GRCh38]
Chr6:129785568..129785569 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2233dup (p.Val745fs) duplication Merosin deficient congenital muscular dystrophy [RCV002307102] Chr6:129267129..129267130 [GRCh38]
Chr6:129588274..129588275 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7771_7772delinsT (p.Asn2591fs) indel Merosin deficient congenital muscular dystrophy [RCV002307189] Chr6:129486495..129486496 [GRCh38]
Chr6:129807640..129807641 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1561_1562del (p.Ser521fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307217] Chr6:129190298..129190299 [GRCh38]
Chr6:129511443..129511444 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8206_8209del (p.Thr2736fs) deletion Merosin deficient congenital muscular dystrophy [RCV002307296] Chr6:129492442..129492445 [GRCh38]
Chr6:129813587..129813590 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.966T>A (p.Cys322Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV002306634] Chr6:129149035 [GRCh38]
Chr6:129470180 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8542del (p.His2848fs) deletion Merosin deficient congenital muscular dystrophy [RCV002306647] Chr6:129503275 [GRCh38]
Chr6:129824420 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5274del (p.Phe1758fs) deletion Merosin deficient congenital muscular dystrophy [RCV002306649] Chr6:129393082 [GRCh38]
Chr6:129714227 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3815C>T (p.Pro1272Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002616975]|not provided [RCV003134456] Chr6:129315841 [GRCh38]
Chr6:129636986 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3129A>G (p.Lys1043=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002993721] Chr6:129300827 [GRCh38]
Chr6:129621972 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+10G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003014858] Chr6:129315960 [GRCh38]
Chr6:129637105 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-5A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002731614] Chr6:129478688 [GRCh38]
Chr6:129799833 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1206+2T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002881339] Chr6:129154685 [GRCh38]
Chr6:129475830 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1468-8A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002858075] Chr6:129190197 [GRCh38]
Chr6:129511342 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5840A>T (p.Asp1947Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003032833] Chr6:129403934 [GRCh38]
Chr6:129725079 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.758C>T (p.Ala253Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002972467]|not provided [RCV003134575] Chr6:129144019 [GRCh38]
Chr6:129465164 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7488C>G (p.Leu2496=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002838528] Chr6:129478729 [GRCh38]
Chr6:129799874 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1312G>A (p.Ala438Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002991534] Chr6:129177711 [GRCh38]
Chr6:129498856 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7871A>G (p.His2624Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002750176] Chr6:129486595 [GRCh38]
Chr6:129807740 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6555T>A (p.Tyr2185Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002880812] Chr6:129453113 [GRCh38]
Chr6:129774258 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7047A>G (p.Ala2349=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002903883] Chr6:129464344 [GRCh38]
Chr6:129785489 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.24C>T (p.Leu8=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002751639] Chr6:128883269 [GRCh38]
Chr6:129204414 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5536G>C (p.Ala1846Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002750319] Chr6:129401314 [GRCh38]
Chr6:129722459 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4717+4C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002616570] Chr6:129353361 [GRCh38]
Chr6:129674506 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3239A>G (p.Asn1080Ser) single nucleotide variant Inborn genetic diseases [RCV003340585]|LAMA2-related muscular dystrophy [RCV002995738]|not provided [RCV003134583] Chr6:129312925 [GRCh38]
Chr6:129634070 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6145A>G (p.Lys2049Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002971372] Chr6:129440875 [GRCh38]
Chr6:129762020 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9127G>T (p.Gly3043Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002839498] Chr6:129514511 [GRCh38]
Chr6:129835656 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3053A>G (p.His1018Arg) single nucleotide variant Inborn genetic diseases [RCV002858923] Chr6:129300751 [GRCh38]
Chr6:129621896 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.800_801delinsGA (p.Asp267Gly) indel LAMA2-related muscular dystrophy [RCV003013291] Chr6:129144061..129144062 [GRCh38]
Chr6:129465206..129465207 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3556-2A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002880330] Chr6:129315474 [GRCh38]
Chr6:129636619 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7957C>G (p.Gln2653Glu) single nucleotide variant Inborn genetic diseases [RCV002731966] Chr6:129491959 [GRCh38]
Chr6:129813104 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6956G>C (p.Arg2319Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV003012095] Chr6:129460288 [GRCh38]
Chr6:129781433 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4436+19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002838059] Chr6:129342486 [GRCh38]
Chr6:129663631 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4076T>C (p.Met1359Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002681136] Chr6:129320555 [GRCh38]
Chr6:129641700 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6430A>C (p.Ile2144Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002903137]|not provided [RCV003134525] Chr6:129452988 [GRCh38]
Chr6:129774133 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1623T>A (p.Ser541Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002574708]|not provided [RCV002475305] Chr6:129192694 [GRCh38]
Chr6:129513839 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6531T>C (p.Ala2177=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003074207]|not provided [RCV003434554] Chr6:129453089 [GRCh38]
Chr6:129774234 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.582T>C (p.Asp194=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003033272] Chr6:129098358 [GRCh38]
Chr6:129419503 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9348T>G (p.Pro3116=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002816173] Chr6:129516326 [GRCh38]
Chr6:129837471 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6185T>C (p.Leu2062Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002837655] Chr6:129440915 [GRCh38]
Chr6:129762060 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7637T>G (p.Val2546Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002751397] Chr6:129481327 [GRCh38]
Chr6:129802472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1608+18G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002838664] Chr6:129190363 [GRCh38]
Chr6:129511508 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-13C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002615276] Chr6:129512350 [GRCh38]
Chr6:129833495 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4710G>A (p.Glu1570=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002905005] Chr6:129353350 [GRCh38]
Chr6:129674495 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2316A>G (p.Glu772=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002880335] Chr6:129267213 [GRCh38]
Chr6:129588358 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8638G>A (p.Asp2880Asn) single nucleotide variant Inborn genetic diseases [RCV002616782]|LAMA2-related muscular dystrophy [RCV002616783]|not provided [RCV003130852] Chr6:129505290 [GRCh38]
Chr6:129826435 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.4851G>A (p.Gln1617=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002843633] Chr6:129366352 [GRCh38]
Chr6:129687497 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.796A>G (p.Ile266Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002908000] Chr6:129144057 [GRCh38]
Chr6:129465202 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1919A>G (p.Glu640Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002996274] Chr6:129252118 [GRCh38]
Chr6:129573263 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6456T>C (p.Gly2152=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002843778] Chr6:129453014 [GRCh38]
Chr6:129774159 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.839A>G (p.Asp280Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV003076996] Chr6:129146978 [GRCh38]
Chr6:129468123 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207G>C (p.Val403Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003077009] Chr6:129165576 [GRCh38]
Chr6:129486721 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5445+11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002775193] Chr6:129393266 [GRCh38]
Chr6:129714411 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6268+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003075564] Chr6:129441006 [GRCh38]
Chr6:129762151 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.511G>T (p.Val171Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003034779] Chr6:129098287 [GRCh38]
Chr6:129419432 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8548A>C (p.Ile2850Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002843414] Chr6:129505200 [GRCh38]
Chr6:129826345 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8469C>T (p.Pro2823=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002819151] Chr6:129503202 [GRCh38]
Chr6:129824347 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8676C>G (p.Ile2892Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV002839448] Chr6:129505328 [GRCh38]
Chr6:129826473 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3412-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002880824] Chr6:129314648 [GRCh38]
Chr6:129635793 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-4G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002881871] Chr6:129460196 [GRCh38]
Chr6:129781341 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8422A>G (p.Ile2808Val) single nucleotide variant Inborn genetic diseases [RCV002865825] Chr6:129503155 [GRCh38]
Chr6:129824300 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9075G>A (p.Trp3025Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003013467] Chr6:129514459 [GRCh38]
Chr6:129835604 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2857-19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002866051] Chr6:129297666 [GRCh38]
Chr6:129618811 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5220T>G (p.Ala1740=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003034518] Chr6:129391639 [GRCh38]
Chr6:129712784 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5378C>T (p.Ala1793Val) single nucleotide variant Inborn genetic diseases [RCV002734285] Chr6:129393188 [GRCh38]
Chr6:129714333 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003076439] Chr6:129443045 [GRCh38]
Chr6:129764190 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1349G>T (p.Gly450Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002776178] Chr6:129177748 [GRCh38]
Chr6:129498893 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1027+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003013545] Chr6:129149097 [GRCh38]
Chr6:129470242 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8358-1del deletion LAMA2-related muscular dystrophy [RCV003014529] Chr6:129503090 [GRCh38]
Chr6:129824235 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8760C>A (p.Ala2920=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002863792] Chr6:129507545 [GRCh38]
Chr6:129828690 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7899-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002908057] Chr6:129491894 [GRCh38]
Chr6:129813039 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-16del deletion LAMA2-related muscular dystrophy [RCV003034052] Chr6:129456318 [GRCh38]
Chr6:129777463 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5373A>G (p.Arg1791=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002755555] Chr6:129393183 [GRCh38]
Chr6:129714328 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6259T>C (p.Ser2087Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002730594] Chr6:129440989 [GRCh38]
Chr6:129762134 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1307-19G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002756054] Chr6:129177687 [GRCh38]
Chr6:129498832 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8969T>G (p.Ile2990Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003095772] Chr6:129512474 [GRCh38]
Chr6:129833619 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5778A>G (p.Lys1926=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002838594] Chr6:129403872 [GRCh38]
Chr6:129725017 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7421C>T (p.Pro2474Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003075459] Chr6:129473334 [GRCh38]
Chr6:129794479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6329T>C (p.Ile2110Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003073912] Chr6:129445721 [GRCh38]
Chr6:129766866 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6574-5A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003012041] Chr6:129454150 [GRCh38]
Chr6:129775295 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5968+15A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002614848] Chr6:129427869 [GRCh38]
Chr6:129749014 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.541A>G (p.Asn181Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV003075125] Chr6:129098317 [GRCh38]
Chr6:129419462 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3242G>T (p.Cys1081Phe) single nucleotide variant Inborn genetic diseases [RCV002902284] Chr6:129312928 [GRCh38]
Chr6:129634073 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.601T>C (p.Ser201Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002751464] Chr6:129098377 [GRCh38]
Chr6:129419522 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5563-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002774887]|Merosin deficient congenital muscular dystrophy [RCV003464592] Chr6:129402323 [GRCh38]
Chr6:129723468 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4992_4996del (p.Gln1666fs) deletion LAMA2-related muscular dystrophy [RCV002726663] Chr6:129383151..129383155 [GRCh38]
Chr6:129704296..129704300 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4999G>A (p.Asp1667Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003032362] Chr6:129383161 [GRCh38]
Chr6:129704306 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1525G>A (p.Glu509Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002815436] Chr6:129190262 [GRCh38]
Chr6:129511407 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4802C>T (p.Pro1601Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003097496] Chr6:129366303 [GRCh38]
Chr6:129687448 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2325C>G (p.Asn775Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002838295] Chr6:129270626 [GRCh38]
Chr6:129591771 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1239A>G (p.Pro413=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002862792] Chr6:129165608 [GRCh38]
Chr6:129486753 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4485G>T (p.Thr1495=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002881797] Chr6:129349346 [GRCh38]
Chr6:129670491 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7753_7756dup (p.Tyr2586fs) duplication LAMA2-related muscular dystrophy [RCV002995959] Chr6:129486476..129486477 [GRCh38]
Chr6:129807621..129807622 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1460T>C (p.Ile487Thr) single nucleotide variant Inborn genetic diseases [RCV002906983] Chr6:129177859 [GRCh38]
Chr6:129499004 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5866-13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002776219] Chr6:129427739 [GRCh38]
Chr6:129748884 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6213A>G (p.Lys2071=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002837758] Chr6:129440943 [GRCh38]
Chr6:129762088 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8337T>A (p.Asp2779Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002995670]|not provided [RCV003130801] Chr6:129502751 [GRCh38]
Chr6:129823896 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2383G>T (p.Glu795Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002574710]|Merosin deficient congenital muscular dystrophy [RCV003465773]|not provided [RCV002475307] Chr6:129270684 [GRCh38]
Chr6:129591829 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2700C>T (p.Leu900=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002616357] Chr6:129288009 [GRCh38]
Chr6:129609154 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2769T>C (p.Gly923=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002863371] Chr6:129291633 [GRCh38]
Chr6:129612778 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6801_6802del (p.Tyr2268fs) deletion LAMA2-related muscular dystrophy [RCV003013639] Chr6:129456428..129456429 [GRCh38]
Chr6:129777573..129777574 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6032A>T (p.Asp2011Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002972686] Chr6:129438709 [GRCh38]
Chr6:129759854 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5563-17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003074766] Chr6:129402307 [GRCh38]
Chr6:129723452 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.599C>T (p.Thr200Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV003016088] Chr6:129098375 [GRCh38]
Chr6:129419520 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6429+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002842447] Chr6:129445822 [GRCh38]
Chr6:129766967 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5982T>C (p.His1994=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002838063] Chr6:129438659 [GRCh38]
Chr6:129759804 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4860+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003014171] Chr6:129366362 [GRCh38]
Chr6:129687507 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.1734G>A (p.Leu578=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003073953] Chr6:129192805 [GRCh38]
Chr6:129513950 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4984G>T (p.Glu1662Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002863720] Chr6:129383146 [GRCh38]
Chr6:129704291 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1048G>A (p.Ala350Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002615672] Chr6:129154525 [GRCh38]
Chr6:129475670 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7341G>A (p.Glu2447=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002881664] Chr6:129473254 [GRCh38]
Chr6:129794399 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4539T>C (p.Tyr1513=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002750956] Chr6:129353179 [GRCh38]
Chr6:129674324 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6186C>G (p.Leu2062=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002858015] Chr6:129440916 [GRCh38]
Chr6:129762061 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6461G>A (p.Cys2154Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002727293] Chr6:129453019 [GRCh38]
Chr6:129774164 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8739C>T (p.Leu2913=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002726302] Chr6:129507524 [GRCh38]
Chr6:129828669 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2651del (p.Gly884fs) deletion LAMA2-related muscular dystrophy [RCV003015775] Chr6:129287959 [GRCh38]
Chr6:129609104 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1405_1406insAC (p.Cys469fs) insertion LAMA2-related muscular dystrophy [RCV003033819] Chr6:129177804..129177805 [GRCh38]
Chr6:129498949..129498950 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2064C>A (p.Ile688=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002975108] Chr6:129252263 [GRCh38]
Chr6:129573408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9276G>A (p.Lys3092=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002750271] Chr6:129516254 [GRCh38]
Chr6:129837399 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4729G>T (p.Glu1577Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002908218] Chr6:129366230 [GRCh38]
Chr6:129687375 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3104A>G (p.Asn1035Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002975134] Chr6:129300802 [GRCh38]
Chr6:129621947 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8805T>C (p.Phe2935=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003034731] Chr6:129507590 [GRCh38]
Chr6:129828735 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7932A>T (p.Arg2644Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002843527] Chr6:129491934 [GRCh38]
Chr6:129813079 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1679A>G (p.Asp560Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV003073576]|not provided [RCV003491239] Chr6:129192750 [GRCh38]
Chr6:129513895 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.4312-8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002842516] Chr6:129342335 [GRCh38]
Chr6:129663480 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9269C>T (p.Ser3090Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002617606] Chr6:129516247 [GRCh38]
Chr6:129837392 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3467A>T (p.Asp1156Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002996476] Chr6:129314710 [GRCh38]
Chr6:129635855 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7439+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002947977] Chr6:129473368 [GRCh38]
Chr6:129794513 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4872A>C (p.Ser1624=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002880882] Chr6:129369903 [GRCh38]
Chr6:129691048 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.516A>C (p.Thr172=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003034781] Chr6:129098292 [GRCh38]
Chr6:129419437 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2436T>C (p.Asn812=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003014528] Chr6:129270737 [GRCh38]
Chr6:129591882 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2433C>T (p.Leu811=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002995080] Chr6:129270734 [GRCh38]
Chr6:129591879 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9241A>G (p.Ser3081Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV003074641] Chr6:129516219 [GRCh38]
Chr6:129837364 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3910A>G (p.Ile1304Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002975210] Chr6:129315936 [GRCh38]
Chr6:129637081 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5721T>G (p.Leu1907=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002815255] Chr6:129402482 [GRCh38]
Chr6:129723627 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+1G>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003465780]|not provided [RCV002511412] Chr6:129481440 [GRCh38]
Chr6:129802585 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.551C>T (p.Pro184Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002881015] Chr6:129098327 [GRCh38]
Chr6:129419472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1206+1del deletion LAMA2-related muscular dystrophy [RCV002681348] Chr6:129154681 [GRCh38]
Chr6:129475826 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.147T>C (p.Asn49=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002685829] Chr6:129049952 [GRCh38]
Chr6:129371097 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7830G>T (p.Val2610=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002996573] Chr6:129486554 [GRCh38]
Chr6:129807699 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1773G>A (p.Leu591=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002819872] Chr6:129192844 [GRCh38]
Chr6:129513989 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5032C>T (p.Leu1678=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002862291] Chr6:129383194 [GRCh38]
Chr6:129704339 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6332A>T (p.Asp2111Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002574709]|not provided [RCV002475306] Chr6:129445724 [GRCh38]
Chr6:129766869 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7147del (p.Arg2383fs) deletion LAMA2-related muscular dystrophy [RCV002863812] Chr6:129464444 [GRCh38]
Chr6:129785589 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7306A>G (p.Ile2436Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003095389] Chr6:129473219 [GRCh38]
Chr6:129794364 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1304G>A (p.Arg435Gln) single nucleotide variant Inborn genetic diseases [RCV002779505] Chr6:129165673 [GRCh38]
Chr6:129486818 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4059-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002730759] Chr6:129320537 [GRCh38]
Chr6:129641682 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8683A>T (p.Thr2895Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002913046] Chr6:129505335 [GRCh38]
Chr6:129826480 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.652T>A (p.Leu218Ile) single nucleotide variant Inborn genetic diseases [RCV002844365] Chr6:129143913 [GRCh38]
Chr6:129465058 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5429dup (p.Asn1810fs) duplication LAMA2-related muscular dystrophy [RCV002706377] Chr6:129393234..129393235 [GRCh38]
Chr6:129714379..129714380 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1301G>A (p.Arg434Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002953470] Chr6:129165670 [GRCh38]
Chr6:129486815 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4290C>A (p.Asp1430Glu) single nucleotide variant Inborn genetic diseases [RCV002798841] Chr6:129328391 [GRCh38]
Chr6:129649536 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5879G>A (p.Arg1960Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV003081766]|not provided [RCV003130826] Chr6:129427765 [GRCh38]
Chr6:129748910 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.15C>T (p.Ala5=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002953120] Chr6:128883260 [GRCh38]
Chr6:129204405 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.57C>A (p.Gly19=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002696057] Chr6:128883302 [GRCh38]
Chr6:129204447 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6484del (p.Ile2162fs) deletion LAMA2-related muscular dystrophy [RCV002999871] Chr6:129453040 [GRCh38]
Chr6:129774185 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5969-8del deletion LAMA2-related muscular dystrophy [RCV002591110] Chr6:129438638 [GRCh38]
Chr6:129759783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6813A>C (p.Leu2271=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003037872] Chr6:129456440 [GRCh38]
Chr6:129777585 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2660T>G (p.Leu887Arg) single nucleotide variant Inborn genetic diseases [RCV002870074] Chr6:129287969 [GRCh38]
Chr6:129609114 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4956C>T (p.Thr1652=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003002567] Chr6:129369987 [GRCh38]
Chr6:129691132 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6076del (p.Ile2026fs) deletion LAMA2-related muscular dystrophy [RCV002871323] Chr6:129438753 [GRCh38]
Chr6:129759898 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3555+13C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002593444] Chr6:129314811 [GRCh38]
Chr6:129635956 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+7G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002998737] Chr6:129383240 [GRCh38]
Chr6:129704385 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8812G>T (p.Ala2938Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002785469] Chr6:129507597 [GRCh38]
Chr6:129828742 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.696G>A (p.Leu232=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002825565] Chr6:129143957 [GRCh38]
Chr6:129465102 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3466G>T (p.Asp1156Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003039521] Chr6:129314709 [GRCh38]
Chr6:129635854 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1783C>T (p.Leu595Phe) single nucleotide variant Inborn genetic diseases [RCV002640085]|LAMA2-related muscular dystrophy [RCV002640086]|not provided [RCV003130741] Chr6:129250112 [GRCh38]
Chr6:129571257 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7572+2T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003039027] Chr6:129478815 [GRCh38]
Chr6:129799960 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.637G>A (p.Glu213Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002825252] Chr6:129098413 [GRCh38]
Chr6:129419558 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3474G>A (p.Lys1158=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002953571] Chr6:129314717 [GRCh38]
Chr6:129635862 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.618_621dup (p.Pro208fs) microsatellite LAMA2-related muscular dystrophy [RCV002706714] Chr6:129098393..129098394 [GRCh38]
Chr6:129419538..129419539 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1364G>T (p.Arg455Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002620747] Chr6:129177763 [GRCh38]
Chr6:129498908 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6086-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002871238] Chr6:129440814 [GRCh38]
Chr6:129761959 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.841A>G (p.Ile281Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003081415] Chr6:129146980 [GRCh38]
Chr6:129468125 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4730A>C (p.Glu1577Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002909874] Chr6:129366231 [GRCh38]
Chr6:129687376 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6708-15C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002949044] Chr6:129456320 [GRCh38]
Chr6:129777465 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer) deletion Inborn genetic diseases [RCV002708004]|Merosin deficient congenital muscular dystrophy [RCV003466003] Chr6:129190226..129190227 [GRCh38]
Chr6:129511371..129511372 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8548-8T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002848218] Chr6:129505192 [GRCh38]
Chr6:129826337 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2841_2842del (p.Arg947_Cys948insTer) deletion LAMA2-related muscular dystrophy [RCV003021682] Chr6:129291705..129291706 [GRCh38]
Chr6:129612850..129612851 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5706C>T (p.Asp1902=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002571695] Chr6:129402467 [GRCh38]
Chr6:129723612 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4781T>C (p.Met1594Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002800095] Chr6:129366282 [GRCh38]
Chr6:129687427 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1794A>G (p.Val598=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002866198] Chr6:129250123 [GRCh38]
Chr6:129571268 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2067A>C (p.Thr689=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002735764] Chr6:129252266 [GRCh38]
Chr6:129573411 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3395G>A (p.Gly1132Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002659160] Chr6:129313081 [GRCh38]
Chr6:129634226 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2968G>C (p.Gly990Arg) single nucleotide variant Inborn genetic diseases [RCV002821957] Chr6:129297796 [GRCh38]
Chr6:129618941 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1393G>C (p.Asp465His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002760391] Chr6:129177792 [GRCh38]
Chr6:129498937 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2096+9A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003054283] Chr6:129252304 [GRCh38]
Chr6:129573449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2964A>G (p.Gln988=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002621797] Chr6:129297792 [GRCh38]
Chr6:129618937 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8499C>T (p.Asp2833=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002889565] Chr6:129503232 [GRCh38]
Chr6:129824377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-14C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002914176] Chr6:129280047 [GRCh38]
Chr6:129601192 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9139_9145dup (p.Gln3049fs) duplication LAMA2-related muscular dystrophy [RCV002786032] Chr6:129514522..129514523 [GRCh38]
Chr6:129835667..129835668 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9312T>C (p.Asn3104=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002619078] Chr6:129516290 [GRCh38]
Chr6:129837435 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3559A>G (p.Thr1187Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002927777] Chr6:129315479 [GRCh38]
Chr6:129636624 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2070del (p.Thr689_Tyr690insTer) deletion LAMA2-related muscular dystrophy [RCV003038746] Chr6:129252269 [GRCh38]
Chr6:129573414 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2921C>T (p.Ser974Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003079253] Chr6:129297749 [GRCh38]
Chr6:129618894 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7828G>T (p.Val2610Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003078363] Chr6:129486552 [GRCh38]
Chr6:129807697 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3942T>C (p.Tyr1314=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002846645] Chr6:129316055 [GRCh38]
Chr6:129637200 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3174+20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002780340] Chr6:129300892 [GRCh38]
Chr6:129622037 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6G>T (p.Pro2=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002846488] Chr6:128883251 [GRCh38]
Chr6:129204396 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4721G>C (p.Cys1574Ser) single nucleotide variant Inborn genetic diseases [RCV002869840] Chr6:129366222 [GRCh38]
Chr6:129687367 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7899-20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003078889] Chr6:129491881 [GRCh38]
Chr6:129813026 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4483A>T (p.Thr1495Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002781113] Chr6:129349344 [GRCh38]
Chr6:129670489 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6280G>A (p.Asp2094Asn) single nucleotide variant Inborn genetic diseases [RCV002885706]|LAMA2-related muscular dystrophy [RCV002885705] Chr6:129445672 [GRCh38]
Chr6:129766817 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2211T>G (p.Ser737=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003019626] Chr6:129267108 [GRCh38]
Chr6:129588253 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7422A>G (p.Pro2474=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003078906] Chr6:129473335 [GRCh38]
Chr6:129794480 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7947G>A (p.Leu2649=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003054055] Chr6:129491949 [GRCh38]
Chr6:129813094 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2271T>A (p.Cys757Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002846673] Chr6:129267168 [GRCh38]
Chr6:129588313 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3297C>T (p.Asn1099=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002797173] Chr6:129312983 [GRCh38]
Chr6:129634128 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003035706] Chr6:129445666 [GRCh38]
Chr6:129766811 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1548T>C (p.Asp516=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002619375] Chr6:129190285 [GRCh38]
Chr6:129511430 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8529T>C (p.Asn2843=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002706096] Chr6:129503262 [GRCh38]
Chr6:129824407 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3529G>C (p.Glu1177Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV003100341] Chr6:129314772 [GRCh38]
Chr6:129635917 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8019A>G (p.Pro2673=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003037180] Chr6:129492021 [GRCh38]
Chr6:129813166 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6224G>A (p.Ser2075Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003079463]|not provided [RCV003491230] Chr6:129440954 [GRCh38]
Chr6:129762099 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.801C>A (p.Asp267Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003019973] Chr6:129144062 [GRCh38]
Chr6:129465207 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4547G>T (p.Ser1516Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002636854] Chr6:129353187 [GRCh38]
Chr6:129674332 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4790A>G (p.Asn1597Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002637515] Chr6:129366291 [GRCh38]
Chr6:129687436 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1323C>T (p.Ser441=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002735468] Chr6:129177722 [GRCh38]
Chr6:129498867 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2821G>A (p.Ala941Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003078185] Chr6:129291685 [GRCh38]
Chr6:129612830 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7430G>A (p.Arg2477Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003053806] Chr6:129473343 [GRCh38]
Chr6:129794488 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8284G>C (p.Gly2762Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003077827] Chr6:129502698 [GRCh38]
Chr6:129823843 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.164del (p.Asn55fs) deletion LAMA2-related muscular dystrophy [RCV002510358] Chr6:129049968 [GRCh38]
Chr6:129371113 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.858G>A (p.Met286Ile) single nucleotide variant Inborn genetic diseases [RCV002660908] Chr6:129146997 [GRCh38]
Chr6:129468142 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2549G>C (p.Gly850Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002659663] Chr6:129287858 [GRCh38]
Chr6:129609003 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1780A>C (p.Lys594Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV003080215] Chr6:129192851 [GRCh38]
Chr6:129513996 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4506A>G (p.Glu1502=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003020489] Chr6:129349367 [GRCh38]
Chr6:129670512 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7300+12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002690593] Chr6:129465301 [GRCh38]
Chr6:129786446 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.54_64del (p.Gly19fs) deletion LAMA2-related muscular dystrophy [RCV002866157] Chr6:128883297..128883307 [GRCh38]
Chr6:129204442..129204452 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9006C>T (p.Asp3002=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002867517] Chr6:129514390 [GRCh38]
Chr6:129835535 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003020041] Chr6:128883372 [GRCh38]
Chr6:129204517 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002690605] Chr6:129098159 [GRCh38]
Chr6:129419304 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1749C>T (p.Tyr583=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002636328] Chr6:129192820 [GRCh38]
Chr6:129513965 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7551T>C (p.Val2517=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003079707] Chr6:129478792 [GRCh38]
Chr6:129799937 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9210A>G (p.Pro3070=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003019758] Chr6:129514594 [GRCh38]
Chr6:129835739 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4289A>G (p.Asp1430Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002820628] Chr6:129328390 [GRCh38]
Chr6:129649535 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.100C>T (p.His34Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002761606] Chr6:128883345 [GRCh38]
Chr6:129204490 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3911T>C (p.Ile1304Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002622674] Chr6:129315937 [GRCh38]
Chr6:129637082 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7198G>A (p.Val2400Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002780323] Chr6:129465187 [GRCh38]
Chr6:129786332 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1248C>A (p.Cys416Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003037187] Chr6:129165617 [GRCh38]
Chr6:129486762 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7066C>T (p.Arg2356Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002910011] Chr6:129464363 [GRCh38]
Chr6:129785508 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.113-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002736041] Chr6:129049916 [GRCh38]
Chr6:129371061 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6430-19_6461del deletion LAMA2-related muscular dystrophy [RCV002886451] Chr6:129452967..129453017 [GRCh38]
Chr6:129774112..129774162 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1731C>T (p.Ala577=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003079616] Chr6:129192802 [GRCh38]
Chr6:129513947 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2532T>C (p.Cys844=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002847381] Chr6:129280142 [GRCh38]
Chr6:129601287 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5496A>G (p.Leu1832=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002824486] Chr6:129401274 [GRCh38]
Chr6:129722419 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1307-16G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002640084] Chr6:129177690 [GRCh38]
Chr6:129498835 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1098G>C (p.Leu366Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002591369] Chr6:129154575 [GRCh38]
Chr6:129475720 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7052T>C (p.Val2351Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV003100660] Chr6:129464349 [GRCh38]
Chr6:129785494 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8420G>A (p.Arg2807His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002637479] Chr6:129503153 [GRCh38]
Chr6:129824298 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4861-4T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002621573] Chr6:129369888 [GRCh38]
Chr6:129691033 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1452C>G (p.Gly484=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002847659] Chr6:129177851 [GRCh38]
Chr6:129498996 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9066_9102dup (p.His3035delinsTrpThrMetAlaTer) duplication LAMA2-related muscular dystrophy [RCV003021371] Chr6:129514448..129514449 [GRCh38]
Chr6:129835593..129835594 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7984G>A (p.Val2662Ile) single nucleotide variant Inborn genetic diseases [RCV003077780]|LAMA2-related muscular dystrophy [RCV003081444] Chr6:129491986 [GRCh38]
Chr6:129813131 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7672A>G (p.Asn2558Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002736372] Chr6:129481362 [GRCh38]
Chr6:129802507 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3175-13dup duplication LAMA2-related muscular dystrophy [RCV003079673] Chr6:129312847..129312848 [GRCh38]
Chr6:129633992..129633993 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2023A>G (p.Met675Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003054512] Chr6:129252222 [GRCh38]
Chr6:129573367 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.820-8T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002825092] Chr6:129146951 [GRCh38]
Chr6:129468096 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3483T>G (p.Leu1161=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003054535] Chr6:129314726 [GRCh38]
Chr6:129635871 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6039G>A (p.Leu2013=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003036535] Chr6:129438716 [GRCh38]
Chr6:129759861 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1185T>C (p.Asp395=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002823941] Chr6:129154662 [GRCh38]
Chr6:129475807 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2549G>T (p.Gly850Val) single nucleotide variant Inborn genetic diseases [RCV003170629]|LAMA2-related muscular dystrophy [RCV002952736] Chr6:129287858 [GRCh38]
Chr6:129609003 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2233G>A (p.Val745Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV003077860]|not provided [RCV003234224] Chr6:129267130 [GRCh38]
Chr6:129588275 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7155+9C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002705638] Chr6:129464461 [GRCh38]
Chr6:129785606 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4284G>A (p.Leu1428=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002695862] Chr6:129328385 [GRCh38]
Chr6:129649530 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003053149] Chr6:129445830 [GRCh38]
Chr6:129766975 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5327T>C (p.Leu1776Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002705662]|not provided [RCV003130745] Chr6:129393137 [GRCh38]
Chr6:129714282 [GRCh37]
Chr6:6q22.33		 benign|uncertain significance
NM_000426.4(LAMA2):c.5025A>G (p.Ala1675=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002999530] Chr6:129383187 [GRCh38]
Chr6:129704332 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4261C>T (p.Gln1421Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003079069] Chr6:129328362 [GRCh38]
Chr6:129649507 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5926A>T (p.Arg1976Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002913834] Chr6:129427812 [GRCh38]
Chr6:129748957 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.639+4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003077563] Chr6:129098419 [GRCh38]
Chr6:129419564 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5623G>C (p.Asp1875His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002780198] Chr6:129402384 [GRCh38]
Chr6:129723529 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7315G>T (p.Val2439Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002820603] Chr6:129473228 [GRCh38]
Chr6:129794373 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3924+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003079561] Chr6:129315963 [GRCh38]
Chr6:129637108 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7245A>C (p.Gln2415His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002979190] Chr6:129465234 [GRCh38]
Chr6:129786379 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3183C>G (p.Asn1061Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002952415] Chr6:129312869 [GRCh38]
Chr6:129634014 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6509T>C (p.Ile2170Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002999864] Chr6:129453067 [GRCh38]
Chr6:129774212 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9310_9313dup (p.Phe3105Ter) duplication LAMA2-related muscular dystrophy [RCV002761591] Chr6:129516285..129516286 [GRCh38]
Chr6:129837430..129837431 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3684C>T (p.Leu1228=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002885318] Chr6:129315604 [GRCh38]
Chr6:129636749 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3697T>C (p.Phe1233Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003053258] Chr6:129315617 [GRCh38]
Chr6:129636762 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1299T>C (p.Ala433=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002591321] Chr6:129165668 [GRCh38]
Chr6:129486813 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6265A>G (p.Asn2089Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002927318] Chr6:129440995 [GRCh38]
Chr6:129762140 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.179A>T (p.Glu60Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002910003] Chr6:129049984 [GRCh38]
Chr6:129371129 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5996A>T (p.Lys1999Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV002910038] Chr6:129438673 [GRCh38]
Chr6:129759818 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207-14A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003019121] Chr6:129165562 [GRCh38]
Chr6:129486707 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6096T>C (p.Ala2032=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002760602] Chr6:129440826 [GRCh38]
Chr6:129761971 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7251T>C (p.His2417=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003055008] Chr6:129465240 [GRCh38]
Chr6:129786385 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-10T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002866384] Chr6:129190195 [GRCh38]
Chr6:129511340 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1708A>C (p.Ser570Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002796519] Chr6:129192779 [GRCh38]
Chr6:129513924 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5576T>A (p.Ile1859Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002910080] Chr6:129402337 [GRCh38]
Chr6:129723482 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5351A>C (p.Asp1784Ala) single nucleotide variant Inborn genetic diseases [RCV002781624] Chr6:129393161 [GRCh38]
Chr6:129714306 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.611C>T (p.Ser204Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003037186] Chr6:129098387 [GRCh38]
Chr6:129419532 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8115del (p.Asp2706fs) deletion LAMA2-related muscular dystrophy [RCV003037189] Chr6:129492354 [GRCh38]
Chr6:129813499 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3432C>T (p.His1144=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002760207] Chr6:129314675 [GRCh38]
Chr6:129635820 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3946G>A (p.Asp1316Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002622010] Chr6:129316059 [GRCh38]
Chr6:129637204 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4762C>G (p.Arg1588Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002926847]|not provided [RCV003134533] Chr6:129366263 [GRCh38]
Chr6:129687408 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8858-13_8858-10del deletion LAMA2-related muscular dystrophy [RCV002592437] Chr6:129512350..129512353 [GRCh38]
Chr6:129833495..129833498 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5509G>T (p.Asp1837Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003077642] Chr6:129401287 [GRCh38]
Chr6:129722432 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5743A>G (p.Lys1915Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002658871] Chr6:129403837 [GRCh38]
Chr6:129724982 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3972G>A (p.Val1324=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002658878] Chr6:129316085 [GRCh38]
Chr6:129637230 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-11del deletion LAMA2-related muscular dystrophy [RCV002705373] Chr6:129252066 [GRCh38]
Chr6:129573211 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7700G>A (p.Ser2567Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003054107] Chr6:129481390 [GRCh38]
Chr6:129802535 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4718-3C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002592453] Chr6:129366216 [GRCh38]
Chr6:129687361 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1884+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002662487] Chr6:129250220 [GRCh38]
Chr6:129571365 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9349G>C (p.Val3117Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002659454] Chr6:129516327 [GRCh38]
Chr6:129837472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4523+20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002979112] Chr6:129349404 [GRCh38]
Chr6:129670549 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2951A>G (p.Gln984Arg) single nucleotide variant Inborn genetic diseases [RCV002888930] Chr6:129297779 [GRCh38]
Chr6:129618924 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6190G>A (p.Gly2064Ser) single nucleotide variant Inborn genetic diseases [RCV002869869] Chr6:129440920 [GRCh38]
Chr6:129762065 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3646G>T (p.Glu1216Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003036514] Chr6:129315566 [GRCh38]
Chr6:129636711 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8394A>G (p.Glu2798=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003002434] Chr6:129503127 [GRCh38]
Chr6:129824272 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+13G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003018430] Chr6:129460337 [GRCh38]
Chr6:129781482 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3900A>G (p.Thr1300=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002796384] Chr6:129315926 [GRCh38]
Chr6:129637071 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5568T>C (p.Val1856=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002909849] Chr6:129402329 [GRCh38]
Chr6:129723474 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5297A>G (p.Glu1766Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV003052899] Chr6:129393107 [GRCh38]
Chr6:129714252 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002736635] Chr6:129267239 [GRCh38]
Chr6:129588384 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6960A>T (p.Glu2320Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002637589] Chr6:129460292 [GRCh38]
Chr6:129781437 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7155+18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002569829] Chr6:129464470 [GRCh38]
Chr6:129785615 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1700_1703dup (p.Ile569fs) duplication LAMA2-related muscular dystrophy [RCV002927502] Chr6:129192770..129192771 [GRCh38]
Chr6:129513915..129513916 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7656G>C (p.Leu2552=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002866959] Chr6:129481346 [GRCh38]
Chr6:129802491 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002705240] Chr6:129316028 [GRCh38]
Chr6:129637173 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003079070] Chr6:129492484 [GRCh38]
Chr6:129813629 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.383T>G (p.Leu128Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003055171] Chr6:129059883 [GRCh38]
Chr6:129381028 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2207A>G (p.Glu736Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002948432] Chr6:129260821 [GRCh38]
Chr6:129581966 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7852T>C (p.Phe2618Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003077278] Chr6:129486576 [GRCh38]
Chr6:129807721 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.876T>C (p.His292=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002866289] Chr6:129147015 [GRCh38]
Chr6:129468160 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6257_6267del (p.Pro2086fs) deletion LAMA2-related muscular dystrophy [RCV003026144] Chr6:129440986..129440996 [GRCh38]
Chr6:129762131..129762141 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3296A>C (p.Asn1099Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002918826] Chr6:129312982 [GRCh38]
Chr6:129634127 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8580T>C (p.Ile2860=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002576327] Chr6:129505232 [GRCh38]
Chr6:129826377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7448C>G (p.Ala2483Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV003084613] Chr6:129475398 [GRCh38]
Chr6:129796543 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1609-8T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002829317] Chr6:129192672 [GRCh38]
Chr6:129513817 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4879C>T (p.Arg1627Trp) single nucleotide variant Hypertrophic cardiomyopathy [RCV003319243]|LAMA2-related muscular dystrophy [RCV002644020] Chr6:129369910 [GRCh38]
Chr6:129691055 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5968+19T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002644041] Chr6:129427873 [GRCh38]
Chr6:129749018 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5020A>T (p.Arg1674Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002957871] Chr6:129383182 [GRCh38]
Chr6:129704327 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5569G>A (p.Glu1857Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002933258] Chr6:129402330 [GRCh38]
Chr6:129723475 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5284del (p.Arg1762fs) deletion LAMA2-related muscular dystrophy [RCV003026182] Chr6:129393092 [GRCh38]
Chr6:129714237 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4218T>A (p.Gly1406=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002829436] Chr6:129328319 [GRCh38]
Chr6:129649464 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7265G>A (p.Trp2422Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003022939] Chr6:129465254 [GRCh38]
Chr6:129786399 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.955G>C (p.Asp319His) single nucleotide variant LAMA2-related muscular dystrophy [RCV003085766] Chr6:129149024 [GRCh38]
Chr6:129470169 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1749C>G (p.Tyr583Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002932747]|Merosin deficient congenital muscular dystrophy [RCV003340560] Chr6:129192820 [GRCh38]
Chr6:129513965 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.3258del (p.Gly1087fs) deletion LAMA2-related muscular dystrophy [RCV002876620] Chr6:129312944 [GRCh38]
Chr6:129634089 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8331A>C (p.Ala2777=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002790451] Chr6:129502745 [GRCh38]
Chr6:129823890 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1740del (p.His580fs) deletion LAMA2-related muscular dystrophy [RCV003022489] Chr6:129192811 [GRCh38]
Chr6:129513956 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3291C>G (p.His1097Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002928524] Chr6:129312977 [GRCh38]
Chr6:129634122 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4860+17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002805275] Chr6:129366378 [GRCh38]
Chr6:129687523 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.633T>C (p.Asn211=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002894603] Chr6:129098409 [GRCh38]
Chr6:129419554 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-2A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002959105] Chr6:129445665 [GRCh38]
Chr6:129766810 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2857-4C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002872461] Chr6:129297681 [GRCh38]
Chr6:129618826 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-14T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002828903] Chr6:129514359 [GRCh38]
Chr6:129835504 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8295G>A (p.Gln2765=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002766217] Chr6:129502709 [GRCh38]
Chr6:129823854 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4960-17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002594775] Chr6:129383105 [GRCh38]
Chr6:129704250 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003008143] Chr6:129478822 [GRCh38]
Chr6:129799967 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3825C>T (p.Ile1275=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002791490] Chr6:129315851 [GRCh38]
Chr6:129636996 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2238C>T (p.Asn746=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002932902] Chr6:129267135 [GRCh38]
Chr6:129588280 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6366C>T (p.Asn2122=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002876710] Chr6:129445758 [GRCh38]
Chr6:129766903 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.986C>G (p.Pro329Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002933250]|not provided [RCV003134544] Chr6:129149055 [GRCh38]
Chr6:129470200 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4308C>T (p.Cys1436=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002575483] Chr6:129328409 [GRCh38]
Chr6:129649554 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2781T>C (p.Ser927=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002894656] Chr6:129291645 [GRCh38]
Chr6:129612790 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002805830] Chr6:129267229 [GRCh38]
Chr6:129588374 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7451+20A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002805832] Chr6:129475421 [GRCh38]
Chr6:129796566 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8227A>G (p.Thr2743Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002711025] Chr6:129492466 [GRCh38]
Chr6:129813611 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3174+14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003085607] Chr6:129300886 [GRCh38]
Chr6:129622031 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4669T>C (p.Cys1557Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002805507] Chr6:129353309 [GRCh38]
Chr6:129674454 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6440C>T (p.Ser2147Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002712129] Chr6:129452998 [GRCh38]
Chr6:129774143 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7480G>A (p.Gly2494Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002918625]|not provided [RCV003130776] Chr6:129478721 [GRCh38]
Chr6:129799866 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8534G>T (p.Gly2845Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002928763]|not provided [RCV003481352] Chr6:129503267 [GRCh38]
Chr6:129824412 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8835C>G (p.Asp2945Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002644406] Chr6:129507620 [GRCh38]
Chr6:129828765 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.66G>T (p.Ala22=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003025324] Chr6:128883311 [GRCh38]
Chr6:129204456 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3099T>C (p.Pro1033=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002875974] Chr6:129300797 [GRCh38]
Chr6:129621942 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9187C>T (p.Pro3063Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003008000] Chr6:129514571 [GRCh38]
Chr6:129835716 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3735+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002786267]|Merosin deficient congenital muscular dystrophy [RCV003465831] Chr6:129315656 [GRCh38]
Chr6:129636801 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5512A>C (p.Ile1838Leu) single nucleotide variant Inborn genetic diseases [RCV002713402] Chr6:129401290 [GRCh38]
Chr6:129722435 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7686C>T (p.Ile2562=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002711788] Chr6:129481376 [GRCh38]
Chr6:129802521 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2843G>A (p.Cys948Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003042898] Chr6:129291707 [GRCh38]
Chr6:129612852 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.439C>G (p.Pro147Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002594252] Chr6:129098215 [GRCh38]
Chr6:129419360 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4981G>A (p.Gly1661Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002642596] Chr6:129383143 [GRCh38]
Chr6:129704288 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8358-14C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002871968] Chr6:129503077 [GRCh38]
Chr6:129824222 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3717A>G (p.Glu1239=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002741887] Chr6:129315637 [GRCh38]
Chr6:129636782 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4226C>A (p.Thr1409Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003041366] Chr6:129328327 [GRCh38]
Chr6:129649472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3970G>A (p.Val1324Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV003040749] Chr6:129316083 [GRCh38]
Chr6:129637228 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2514G>T (p.Gly838=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002595713] Chr6:129280124 [GRCh38]
Chr6:129601269 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+20A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002828950] Chr6:129370010 [GRCh38]
Chr6:129691155 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4176+5G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002593842] Chr6:129320660 [GRCh38]
Chr6:129641805 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5235-7G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002643065] Chr6:129393038 [GRCh38]
Chr6:129714183 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5259A>G (p.Lys1753=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002800984] Chr6:129393069 [GRCh38]
Chr6:129714214 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+19A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003058042] Chr6:129391672 [GRCh38]
Chr6:129712817 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1839G>A (p.Glu613=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002801024] Chr6:129250168 [GRCh38]
Chr6:129571313 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.977A>G (p.His326Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002624242] Chr6:129149046 [GRCh38]
Chr6:129470191 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.910-3T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002891098] Chr6:129148976 [GRCh38]
Chr6:129470121 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5127C>G (p.Ala1709=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002625128] Chr6:129391546 [GRCh38]
Chr6:129712691 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6547C>T (p.Leu2183Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002917232] Chr6:129453105 [GRCh38]
Chr6:129774250 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4245C>T (p.Gly1415=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002917377] Chr6:129328346 [GRCh38]
Chr6:129649491 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-12A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002624295] Chr6:129401212 [GRCh38]
Chr6:129722357 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8474T>C (p.Phe2825Ser) single nucleotide variant Muscular dystrophy [RCV002508984] Chr6:129503207 [GRCh38]
Chr6:129824352 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3680A>T (p.Asp1227Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002829026] Chr6:129315600 [GRCh38]
Chr6:129636745 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9157C>T (p.Pro3053Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002663933] Chr6:129514541 [GRCh38]
Chr6:129835686 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1850C>G (p.Thr617Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002642362] Chr6:129250179 [GRCh38]
Chr6:129571324 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6051T>A (p.Asn2017Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003057959] Chr6:129438728 [GRCh38]
Chr6:129759873 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9168A>G (p.Thr3056=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002928492] Chr6:129514552 [GRCh38]
Chr6:129835697 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.67C>T (p.Gln23Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002872162] Chr6:128883312 [GRCh38]
Chr6:129204457 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.397-4C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002572751] Chr6:129098169 [GRCh38]
Chr6:129419314 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8229C>T (p.Thr2743=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003057228] Chr6:129492468 [GRCh38]
Chr6:129813613 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3318_3319del (p.Cys1106_Asp1107delinsTer) microsatellite LAMA2-related muscular dystrophy [RCV003043383] Chr6:129313002..129313003 [GRCh38]
Chr6:129634147..129634148 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8355_8356delinsAT (p.Asn2785_Arg2786delinsLysCys) indel LAMA2-related muscular dystrophy [RCV002572541] Chr6:129502769..129502770 [GRCh38]
Chr6:129823914..129823915 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6268+17C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002850995] Chr6:129441015 [GRCh38]
Chr6:129762160 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4371A>G (p.Gly1457=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002801424] Chr6:129342402 [GRCh38]
Chr6:129663547 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5042T>C (p.Phe1681Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003023477] Chr6:129383204 [GRCh38]
Chr6:129704349 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3657C>T (p.Ala1219=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003006036] Chr6:129315577 [GRCh38]
Chr6:129636722 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6646C>T (p.Arg2216Cys) single nucleotide variant Inborn genetic diseases [RCV003269227]|LAMA2-related muscular dystrophy [RCV002666700] Chr6:129454227 [GRCh38]
Chr6:129775372 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3915A>G (p.Glu1305=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003058378] Chr6:129315941 [GRCh38]
Chr6:129637086 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+20G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003059279] Chr6:129147068 [GRCh38]
Chr6:129468213 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8792T>C (p.Val2931Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002891071] Chr6:129507577 [GRCh38]
Chr6:129828722 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2246T>C (p.Ile749Thr) single nucleotide variant Inborn genetic diseases [RCV002826198] Chr6:129267143 [GRCh38]
Chr6:129588288 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6708-8C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002852714] Chr6:129456327 [GRCh38]
Chr6:129777472 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2942A>C (p.Glu981Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV003085375] Chr6:129297770 [GRCh38]
Chr6:129618915 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2862G>A (p.Gly954=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002830061] Chr6:129297690 [GRCh38]
Chr6:129618835 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8544C>A (p.His2848Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002593603] Chr6:129503277 [GRCh38]
Chr6:129824422 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.396+19del deletion LAMA2-related muscular dystrophy [RCV002624967] Chr6:129059909 [GRCh38]
Chr6:129381054 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2322+10C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003084234] Chr6:129267229 [GRCh38]
Chr6:129588374 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6924dup (p.Asp2309Ter) duplication LAMA2-related muscular dystrophy [RCV002894032] Chr6:129460253..129460254 [GRCh38]
Chr6:129781398..129781399 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2432T>G (p.Leu811Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002575938]|not provided [RCV003134442] Chr6:129270733 [GRCh38]
Chr6:129591878 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8001T>C (p.Pro2667=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002700321] Chr6:129492003 [GRCh38]
Chr6:129813148 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1363C>T (p.Arg455Trp) single nucleotide variant Inborn genetic diseases [RCV002915368] Chr6:129177762 [GRCh38]
Chr6:129498907 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7488C>T (p.Leu2496=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003057508] Chr6:129478729 [GRCh38]
Chr6:129799874 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6430-12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003024273] Chr6:129452976 [GRCh38]
Chr6:129774121 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1879T>C (p.Leu627=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002853093] Chr6:129250208 [GRCh38]
Chr6:129571353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003085181] Chr6:129445829 [GRCh38]
Chr6:129766974 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.58dup (p.Val20fs) duplication LAMA2-related muscular dystrophy [RCV003007983] Chr6:128883302..128883303 [GRCh38]
Chr6:129204447..129204448 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5235A>G (p.Val1745=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003043407] Chr6:129393045 [GRCh38]
Chr6:129714190 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8681A>G (p.Tyr2894Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003085714] Chr6:129505333 [GRCh38]
Chr6:129826478 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6269-8G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002667417] Chr6:129443055 [GRCh38]
Chr6:129764200 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-17T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002894658] Chr6:129443046 [GRCh38]
Chr6:129764191 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9297G>A (p.Lys3099=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002711487] Chr6:129516275 [GRCh38]
Chr6:129837420 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.507T>C (p.His169=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002626373] Chr6:129098283 [GRCh38]
Chr6:129419428 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4668G>A (p.Lys1556=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002919060] Chr6:129353308 [GRCh38]
Chr6:129674453 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7069T>C (p.Trp2357Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002805674] Chr6:129464366 [GRCh38]
Chr6:129785511 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9083T>A (p.Val3028Asp) single nucleotide variant Muscular dystrophy [RCV002508985] Chr6:129514467 [GRCh38]
Chr6:129835612 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4647A>T (p.Arg1549=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003057797] Chr6:129353287 [GRCh38]
Chr6:129674432 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8814T>C (p.Ala2938=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002805471] Chr6:129507599 [GRCh38]
Chr6:129828744 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8966G>A (p.Gly2989Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV003084383] Chr6:129512471 [GRCh38]
Chr6:129833616 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8358-3_8358-2del microsatellite LAMA2-related muscular dystrophy [RCV002574648] Chr6:129503086..129503087 [GRCh38]
Chr6:129824231..129824232 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7701T>C (p.Ser2567=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003006485] Chr6:129481391 [GRCh38]
Chr6:129802536 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002595882] Chr6:128883364 [GRCh38]
Chr6:129204509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5866-6C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002871670] Chr6:129427746 [GRCh38]
Chr6:129748891 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4582G>A (p.Glu1528Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003082648] Chr6:129353222 [GRCh38]
Chr6:129674367 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9341T>G (p.Val3114Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002666680] Chr6:129516319 [GRCh38]
Chr6:129837464 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3412-5C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002853250] Chr6:129314650 [GRCh38]
Chr6:129635795 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4019T>C (p.Leu1340Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV003085389] Chr6:129316132 [GRCh38]
Chr6:129637277 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1524A>G (p.Gln508=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002801672] Chr6:129190261 [GRCh38]
Chr6:129511406 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-4T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002575122] Chr6:129270620 [GRCh38]
Chr6:129591765 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4105A>G (p.Thr1369Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV003084607] Chr6:129320584 [GRCh38]
Chr6:129641729 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3174+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002644015] Chr6:129300888 [GRCh38]
Chr6:129622033 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.257G>T (p.Cys86Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003025238] Chr6:129050062 [GRCh38]
Chr6:129371207 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4523+18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003056487] Chr6:129349402 [GRCh38]
Chr6:129670547 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1855C>T (p.Arg619Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002595961] Chr6:129250184 [GRCh38]
Chr6:129571329 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2323-19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002786340] Chr6:129270605 [GRCh38]
Chr6:129591750 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+4A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003083524] Chr6:129505359 [GRCh38]
Chr6:129826504 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4045A>G (p.Met1349Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003058804] Chr6:129316158 [GRCh38]
Chr6:129637303 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1160G>T (p.Gly387Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002829226] Chr6:129154637 [GRCh38]
Chr6:129475782 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3156C>T (p.Ser1052=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002573748] Chr6:129300854 [GRCh38]
Chr6:129621999 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7364G>A (p.Gly2455Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003085078] Chr6:129473277 [GRCh38]
Chr6:129794422 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3924G>A (p.Glu1308=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002663999] Chr6:129315950 [GRCh38]
Chr6:129637095 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4176+15A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003083694] Chr6:129320670 [GRCh38]
Chr6:129641815 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5271G>A (p.Leu1757=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002667142] Chr6:129393081 [GRCh38]
Chr6:129714226 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6758C>T (p.Ala2253Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003039957] Chr6:129456385 [GRCh38]
Chr6:129777530 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8711A>G (p.Tyr2904Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002982244] Chr6:129507496 [GRCh38]
Chr6:129828641 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5969-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002850957] Chr6:129438645 [GRCh38]
Chr6:129759790 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6601A>C (p.Lys2201Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002700149] Chr6:129454182 [GRCh38]
Chr6:129775327 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8989-24_8989-14del deletion LAMA2-related muscular dystrophy [RCV003042636] Chr6:129514349..129514359 [GRCh38]
Chr6:129835494..129835504 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8342C>T (p.Thr2781Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV003082213] Chr6:129502756 [GRCh38]
Chr6:129823901 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4214C>T (p.Pro1405Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002741402] Chr6:129328315 [GRCh38]
Chr6:129649460 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7816A>G (p.Met2606Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002644534] Chr6:129486540 [GRCh38]
Chr6:129807685 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8499C>A (p.Asp2833Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002958561] Chr6:129503232 [GRCh38]
Chr6:129824377 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207-5G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002786511] Chr6:129165571 [GRCh38]
Chr6:129486716 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6885T>A (p.Arg2295=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002664034] Chr6:129460217 [GRCh38]
Chr6:129781362 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.52G>C (p.Gly18Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002624658] Chr6:128883297 [GRCh38]
Chr6:129204442 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3420G>C (p.Val1140=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002829440] Chr6:129314663 [GRCh38]
Chr6:129635808 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4275C>T (p.His1425=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002894329] Chr6:129328376 [GRCh38]
Chr6:129649521 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8502C>T (p.Thr2834=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003007841] Chr6:129503235 [GRCh38]
Chr6:129824380 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5088T>A (p.Ala1696=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002711422] Chr6:129391507 [GRCh38]
Chr6:129712652 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+8C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002829660] Chr6:129481447 [GRCh38]
Chr6:129802592 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.669A>G (p.Pro223=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002575680] Chr6:129143930 [GRCh38]
Chr6:129465075 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5964A>G (p.Val1988=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002741930] Chr6:129427850 [GRCh38]
Chr6:129748995 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6147del (p.Asp2050fs) deletion LAMA2-related muscular dystrophy [RCV003040220]|Merosin deficient congenital muscular dystrophy [RCV003465913] Chr6:129440875 [GRCh38]
Chr6:129762020 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.7572+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002642363] Chr6:129478814 [GRCh38]
Chr6:129799959 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3284G>A (p.Arg1095Gln) single nucleotide variant Inborn genetic diseases [RCV002938618]|LAMA2-related muscular dystrophy [RCV002914633]|not provided [RCV003134547] Chr6:129312970 [GRCh38]
Chr6:129634115 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4983C>T (p.Gly1661=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002663305]|not provided [RCV003434499] Chr6:129383145 [GRCh38]
Chr6:129704290 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-9_8989-5dup duplication LAMA2-related muscular dystrophy [RCV002983070] Chr6:129514362..129514363 [GRCh38]
Chr6:129835507..129835508 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7545T>C (p.Val2515=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002856459] Chr6:129478786 [GRCh38]
Chr6:129799931 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8590G>C (p.Asp2864His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002629156] Chr6:129505242 [GRCh38]
Chr6:129826387 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.112+2_112+12del deletion LAMA2-related muscular dystrophy [RCV002600713] Chr6:128883355..128883365 [GRCh38]
Chr6:129204500..129204510 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.9232C>T (p.Leu3078=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002580677] Chr6:129516210 [GRCh38]
Chr6:129837355 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6G>A (p.Pro2=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002806159] Chr6:128883251 [GRCh38]
Chr6:129204396 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1230A>G (p.Pro410=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003044422] Chr6:129165599 [GRCh38]
Chr6:129486744 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7765C>T (p.Leu2589Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002720043] Chr6:129486489 [GRCh38]
Chr6:129807634 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.638del (p.Glu213fs) deletion LAMA2-related muscular dystrophy [RCV003031850] Chr6:129098414 [GRCh38]
Chr6:129419559 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6175C>T (p.His2059Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002598098] Chr6:129440905 [GRCh38]
Chr6:129762050 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5490C>A (p.Asn1830Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003062000] Chr6:129401268 [GRCh38]
Chr6:129722413 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.926G>T (p.Cys309Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003029793] Chr6:129148995 [GRCh38]
Chr6:129470140 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1467+7T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003092034] Chr6:129177873 [GRCh38]
Chr6:129499018 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2357A>C (p.Asp786Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002720877] Chr6:129270658 [GRCh38]
Chr6:129591803 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3412-15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002597653] Chr6:129314640 [GRCh38]
Chr6:129635785 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5923T>G (p.Phe1975Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002963056] Chr6:129427809 [GRCh38]
Chr6:129748954 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+6G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002938490] Chr6:129250219 [GRCh38]
Chr6:129571364 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1688C>T (p.Ser563Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003089954] Chr6:129192759 [GRCh38]
Chr6:129513904 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2097-13dup duplication LAMA2-related muscular dystrophy [RCV002602801] Chr6:129260692..129260693 [GRCh38]
Chr6:129581837..129581838 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.6085+20C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002602817] Chr6:129438782 [GRCh38]
Chr6:129759927 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7752C>T (p.Ala2584=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002633002] Chr6:129486476 [GRCh38]
Chr6:129807621 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2575G>C (p.Gly859Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003090196] Chr6:129287884 [GRCh38]
Chr6:129609029 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4823T>C (p.Met1608Thr) single nucleotide variant Inborn genetic diseases [RCV002920433] Chr6:129366324 [GRCh38]
Chr6:129687469 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7175A>G (p.Glu2392Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002962351] Chr6:129465164 [GRCh38]
Chr6:129786309 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6235A>T (p.Thr2079Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002602298]|not provided [RCV003491251] Chr6:129440965 [GRCh38]
Chr6:129762110 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8124T>C (p.Gly2708=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003091501] Chr6:129492363 [GRCh38]
Chr6:129813508 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1599C>G (p.Thr533=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003047641] Chr6:129190336 [GRCh38]
Chr6:129511481 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4874C>T (p.Pro1625Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003092068]|Merosin deficient congenital muscular dystrophy [RCV003228119] Chr6:129369905 [GRCh38]
Chr6:129691050 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8233G>A (p.Val2745Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV003065187] Chr6:129492472 [GRCh38]
Chr6:129813617 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3392C>G (p.Thr1131Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002650241] Chr6:129313078 [GRCh38]
Chr6:129634223 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2863_2869del (p.Thr955fs) deletion LAMA2-related muscular dystrophy [RCV002811978] Chr6:129297690..129297696 [GRCh38]
Chr6:129618835..129618841 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7788del (p.Val2597fs) deletion LAMA2-related muscular dystrophy [RCV003044644] Chr6:129486511 [GRCh38]
Chr6:129807656 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8357+14T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003091552] Chr6:129502785 [GRCh38]
Chr6:129823930 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6997C>G (p.Gln2333Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002602851] Chr6:129464294 [GRCh38]
Chr6:129785439 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6114G>A (p.Lys2038=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002721230] Chr6:129440844 [GRCh38]
Chr6:129761989 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4049del (p.Arg1350fs) deletion LAMA2-related muscular dystrophy [RCV002942029] Chr6:129316162 [GRCh38]
Chr6:129637307 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4059-14C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003091559] Chr6:129320524 [GRCh38]
Chr6:129641669 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.436T>A (p.Ser146Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002676380] Chr6:129098212 [GRCh38]
Chr6:129419357 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3735+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003064106] Chr6:129315660 [GRCh38]
Chr6:129636805 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9211+14A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002582083] Chr6:129514609 [GRCh38]
Chr6:129835754 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.422T>C (p.Val141Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002630827] Chr6:129098198 [GRCh38]
Chr6:129419343 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.284-3T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002805997] Chr6:129059781 [GRCh38]
Chr6:129380926 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2322+15C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002649555] Chr6:129267234 [GRCh38]
Chr6:129588379 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1028-12T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003030489] Chr6:129154493 [GRCh38]
Chr6:129475638 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7794T>C (p.His2598=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002899663] Chr6:129486518 [GRCh38]
Chr6:129807663 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5753C>T (p.Ser1918Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002746059] Chr6:129403847 [GRCh38]
Chr6:129724992 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7609G>A (p.Val2537Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV003065621] Chr6:129481299 [GRCh38]
Chr6:129802444 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6486C>A (p.Ile2162=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002721048] Chr6:129453044 [GRCh38]
Chr6:129774189 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3607C>T (p.Gln1203Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003027441] Chr6:129315527 [GRCh38]
Chr6:129636672 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7715C>T (p.Ala2572Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002791712] Chr6:129481405 [GRCh38]
Chr6:129802550 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6727A>G (p.Ile2243Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003087802]|not provided [RCV003134639] Chr6:129456354 [GRCh38]
Chr6:129777499 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6412C>T (p.Arg2138Trp) single nucleotide variant LAMA2-related muscular dystrophy [RCV003088057] Chr6:129445804 [GRCh38]
Chr6:129766949 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7515G>T (p.Pro2505=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002856161] Chr6:129478756 [GRCh38]
Chr6:129799901 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5137A>C (p.Asn1713His) single nucleotide variant Inborn genetic diseases [RCV002878550] Chr6:129391556 [GRCh38]
Chr6:129712701 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3037+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002856612] Chr6:129297866 [GRCh38]
Chr6:129619011 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2450+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003060078] Chr6:129270752 [GRCh38]
Chr6:129591897 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2907C>A (p.Cys969Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003060079] Chr6:129297735 [GRCh38]
Chr6:129618880 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.9211+7G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003086927] Chr6:129514602 [GRCh38]
Chr6:129835747 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1065dup (p.Asp356Ter) duplication LAMA2-related muscular dystrophy [RCV002833144] Chr6:129154541..129154542 [GRCh38]
Chr6:129475686..129475687 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4894C>G (p.Leu1632Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002629666] Chr6:129369925 [GRCh38]
Chr6:129691070 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-19C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003026889] Chr6:129445648 [GRCh38]
Chr6:129766793 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.429A>G (p.Ala143=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003044605] Chr6:129098205 [GRCh38]
Chr6:129419350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2580A>G (p.Gly860=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002933634] Chr6:129287889 [GRCh38]
Chr6:129609034 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7519A>G (p.Asn2507Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002834076] Chr6:129478760 [GRCh38]
Chr6:129799905 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7035A>G (p.Gly2345=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002806737] Chr6:129464332 [GRCh38]
Chr6:129785477 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1785C>A (p.Leu595=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002937682] Chr6:129250114 [GRCh38]
Chr6:129571259 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5906G>A (p.Gly1969Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002717029] Chr6:129427792 [GRCh38]
Chr6:129748937 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.26T>A (p.Leu9His) single nucleotide variant LAMA2-related muscular dystrophy [RCV003011349] Chr6:128883271 [GRCh38]
Chr6:129204416 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7634A>T (p.Asp2545Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002577114] Chr6:129481324 [GRCh38]
Chr6:129802469 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3242G>A (p.Cys1081Tyr) single nucleotide variant Inborn genetic diseases [RCV002934256] Chr6:129312928 [GRCh38]
Chr6:129634073 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8146C>T (p.Arg2716Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002629005] Chr6:129492385 [GRCh38]
Chr6:129813530 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2323-14C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002647877] Chr6:129270610 [GRCh38]
Chr6:129591755 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5866-16G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002629739] Chr6:129427736 [GRCh38]
Chr6:129748881 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7944C>T (p.Asn2648=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003046013] Chr6:129491946 [GRCh38]
Chr6:129813091 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3324C>T (p.Cys1108=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002937700] Chr6:129313010 [GRCh38]
Chr6:129634155 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4743T>C (p.Leu1581=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003029038] Chr6:129366244 [GRCh38]
Chr6:129687389 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6326T>C (p.Leu2109Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002922343] Chr6:129445718 [GRCh38]
Chr6:129766863 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6030G>T (p.Gly2010=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003011609] Chr6:129438707 [GRCh38]
Chr6:129759852 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-5A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002579267] Chr6:129402319 [GRCh38]
Chr6:129723464 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8793T>C (p.Val2931=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003009985] Chr6:129507578 [GRCh38]
Chr6:129828723 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6585G>A (p.Leu2195=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003027709] Chr6:129454166 [GRCh38]
Chr6:129775311 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8413A>G (p.Met2805Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002647675]|not provided [RCV003134671] Chr6:129503146 [GRCh38]
Chr6:129824291 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4413C>T (p.Cys1471=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002630109] Chr6:129342444 [GRCh38]
Chr6:129663589 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002877353] Chr6:129252082 [GRCh38]
Chr6:129573227 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5969-14T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002630532] Chr6:129438632 [GRCh38]
Chr6:129759777 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1199C>T (p.Pro400Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002988555] Chr6:129154676 [GRCh38]
Chr6:129475821 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9337G>T (p.Gly3113Cys) single nucleotide variant Inborn genetic diseases [RCV002748196] Chr6:129516315 [GRCh38]
Chr6:129837460 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6841G>T (p.Val2281Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003043762] Chr6:129456468 [GRCh38]
Chr6:129777613 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6606C>A (p.Gly2202=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002806938] Chr6:129454187 [GRCh38]
Chr6:129775332 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2463G>T (p.Thr821=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003044739] Chr6:129280073 [GRCh38]
Chr6:129601218 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6785C>T (p.Ser2262Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002647477] Chr6:129456412 [GRCh38]
Chr6:129777557 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4496G>A (p.Arg1499Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV002895770] Chr6:129349357 [GRCh38]
Chr6:129670502 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2700C>G (p.Leu900=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002806843] Chr6:129288009 [GRCh38]
Chr6:129609154 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5160G>A (p.Glu1720=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003060797] Chr6:129391579 [GRCh38]
Chr6:129712724 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6328A>T (p.Ile2110Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002628179] Chr6:129445720 [GRCh38]
Chr6:129766865 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4524-8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002962576] Chr6:129353156 [GRCh38]
Chr6:129674301 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7883T>C (p.Val2628Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV003088401] Chr6:129486607 [GRCh38]
Chr6:129807752 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4698C>T (p.Arg1566=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002937134] Chr6:129353338 [GRCh38]
Chr6:129674483 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.223G>A (p.Gly75Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002937559] Chr6:129050028 [GRCh38]
Chr6:129371173 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8789A>G (p.His2930Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003062867] Chr6:129507574 [GRCh38]
Chr6:129828719 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1851A>G (p.Thr617=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003060287] Chr6:129250180 [GRCh38]
Chr6:129571325 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8419C>T (p.Arg2807Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002934062] Chr6:129503152 [GRCh38]
Chr6:129824297 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.867C>T (p.Cys289=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003045652] Chr6:129147006 [GRCh38]
Chr6:129468151 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002650618] Chr6:129252074 [GRCh38]
Chr6:129573219 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9059T>C (p.Leu3020Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002770143] Chr6:129514443 [GRCh38]
Chr6:129835588 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7826T>C (p.Ile2609Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002937614] Chr6:129486550 [GRCh38]
Chr6:129807695 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4541C>A (p.Thr1514Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002810426] Chr6:129353181 [GRCh38]
Chr6:129674326 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.381C>T (p.Thr127=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002810740] Chr6:129059881 [GRCh38]
Chr6:129381026 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3231C>T (p.Gly1077=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003062102] Chr6:129312917 [GRCh38]
Chr6:129634062 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4345G>T (p.Glu1449Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003029532] Chr6:129342376 [GRCh38]
Chr6:129663521 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8496G>A (p.Gly2832=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002601594] Chr6:129503229 [GRCh38]
Chr6:129824374 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3288T>C (p.Gly1096=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003026404] Chr6:129312974 [GRCh38]
Chr6:129634119 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4278C>T (p.Ser1426=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002856709] Chr6:129328379 [GRCh38]
Chr6:129649524 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6292A>G (p.Thr2098Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002629840] Chr6:129445684 [GRCh38]
Chr6:129766829 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4083A>G (p.Val1361=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003086433] Chr6:129320562 [GRCh38]
Chr6:129641707 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003010239] Chr6:129505363 [GRCh38]
Chr6:129826508 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.466C>A (p.Arg156Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002628527] Chr6:129098242 [GRCh38]
Chr6:129419387 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4177-17G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002631054] Chr6:129328261 [GRCh38]
Chr6:129649406 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.66G>A (p.Ala22=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002811329] Chr6:128883311 [GRCh38]
Chr6:129204456 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9233T>C (p.Leu3078Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002966122] Chr6:129516211 [GRCh38]
Chr6:129837356 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7566C>T (p.Ser2522=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002632067] Chr6:129478807 [GRCh38]
Chr6:129799952 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7868A>C (p.Glu2623Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002966156] Chr6:129486592 [GRCh38]
Chr6:129807737 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6272_6274+3del deletion LAMA2-related muscular dystrophy [RCV002877577] Chr6:129443065..129443070 [GRCh38]
Chr6:129764210..129764215 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2687G>A (p.Arg896Gln) single nucleotide variant Inborn genetic diseases [RCV003367908]|LAMA2-related muscular dystrophy [RCV002938550]|not provided [RCV003138400] Chr6:129287996 [GRCh38]
Chr6:129609141 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6766G>T (p.Val2256Leu) single nucleotide variant Inborn genetic diseases [RCV002961762]|not provided [RCV003491290] Chr6:129456393 [GRCh38]
Chr6:129777538 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7297C>T (p.Gln2433Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003061557] Chr6:129465286 [GRCh38]
Chr6:129786431 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8586T>G (p.Tyr2862Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003061558] Chr6:129505238 [GRCh38]
Chr6:129826383 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4059-11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002939118] Chr6:129320527 [GRCh38]
Chr6:129641672 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3174+19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002895689] Chr6:129300891 [GRCh38]
Chr6:129622036 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7152C>T (p.Asp2384=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003045888] Chr6:129464449 [GRCh38]
Chr6:129785594 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3579C>A (p.Thr1193=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003090301] Chr6:129315499 [GRCh38]
Chr6:129636644 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7362T>A (p.Ser2454=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002966250] Chr6:129473275 [GRCh38]
Chr6:129794420 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.164A>G (p.Asn55Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002581023] Chr6:129049969 [GRCh38]
Chr6:129371114 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5290G>A (p.Glu1764Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003060492] Chr6:129393100 [GRCh38]
Chr6:129714245 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1438G>C (p.Asp480His) single nucleotide variant LAMA2-related muscular dystrophy [RCV003088327] Chr6:129177837 [GRCh38]
Chr6:129498982 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3750G>A (p.Gly1250=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003008422] Chr6:129315776 [GRCh38]
Chr6:129636921 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1755C>A (p.Ser585Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003009077] Chr6:129192826 [GRCh38]
Chr6:129513971 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8548-12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002922022] Chr6:129505188 [GRCh38]
Chr6:129826333 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8916A>C (p.Thr2972=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002961884] Chr6:129512421 [GRCh38]
Chr6:129833566 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5999C>A (p.Thr2000Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003011052] Chr6:129438676 [GRCh38]
Chr6:129759821 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9291A>G (p.Thr3097=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003011048] Chr6:129516269 [GRCh38]
Chr6:129837414 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2383G>A (p.Glu795Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002895797]|not provided [RCV003134529] Chr6:129270684 [GRCh38]
Chr6:129591829 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8015C>T (p.Ser2672Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003028587] Chr6:129492017 [GRCh38]
Chr6:129813162 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8111del (p.Asn2704fs) deletion LAMA2-related muscular dystrophy [RCV002898746] Chr6:129492346 [GRCh38]
Chr6:129813491 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6429+16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003011153] Chr6:129445837 [GRCh38]
Chr6:129766982 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1710T>C (p.Ser570=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002651301] Chr6:129192781 [GRCh38]
Chr6:129513926 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002966685] Chr6:128883376 [GRCh38]
Chr6:129204521 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4322A>G (p.His1441Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003091385] Chr6:129342353 [GRCh38]
Chr6:129663498 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4524-6A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003026946] Chr6:129353158 [GRCh38]
Chr6:129674303 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7347A>G (p.Ile2449Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV002629402] Chr6:129473260 [GRCh38]
Chr6:129794405 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4827G>A (p.Leu1609=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002720954] Chr6:129366328 [GRCh38]
Chr6:129687473 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3749G>A (p.Gly1250Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002988856] Chr6:129315775 [GRCh38]
Chr6:129636920 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.283+2dup duplication LAMA2-related muscular dystrophy [RCV003062112] Chr6:129050089..129050090 [GRCh38]
Chr6:129371234..129371235 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5234+11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002578382] Chr6:129391664 [GRCh38]
Chr6:129712809 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8635C>T (p.Leu2879=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002857747] Chr6:129505287 [GRCh38]
Chr6:129826432 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+9G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003046538] Chr6:129369999 [GRCh38]
Chr6:129691144 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1881_1884del (p.Glu628fs) deletion LAMA2-related muscular dystrophy [RCV002791926] Chr6:129250210..129250213 [GRCh38]
Chr6:129571355..129571358 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5558T>C (p.Ile1853Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002600192] Chr6:129401336 [GRCh38]
Chr6:129722481 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7963A>G (p.Ile2655Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003063043] Chr6:129491965 [GRCh38]
Chr6:129813110 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6993-14G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002577217] Chr6:129464276 [GRCh38]
Chr6:129785421 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-9C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003028310] Chr6:129456326 [GRCh38]
Chr6:129777471 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2735C>A (p.Ala912Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003090082] Chr6:129288044 [GRCh38]
Chr6:129609189 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5766T>G (p.Thr1922=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002675606] Chr6:129403860 [GRCh38]
Chr6:129725005 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.5369_5370del (p.Leu1789_Leu1790insTer) deletion LAMA2-related muscular dystrophy [RCV003031553] Chr6:129393179..129393180 [GRCh38]
Chr6:129714324..129714325 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6085+5G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003060331] Chr6:129438767 [GRCh38]
Chr6:129759912 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2750-20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002579887] Chr6:129291594 [GRCh38]
Chr6:129612739 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7618T>C (p.Ser2540Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002581118] Chr6:129481308 [GRCh38]
Chr6:129802453 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1187G>C (p.Gly396Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002720885] Chr6:129154664 [GRCh38]
Chr6:129475809 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.821A>G (p.Tyr274Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002600746] Chr6:129146960 [GRCh38]
Chr6:129468105 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9148A>C (p.Ser3050Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002579948] Chr6:129514532 [GRCh38]
Chr6:129835677 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3399G>A (p.Gln1133=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003091536] Chr6:129313085 [GRCh38]
Chr6:129634230 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1290G>C (p.Glu430Asp) single nucleotide variant Inborn genetic diseases [RCV002703100] Chr6:129165659 [GRCh38]
Chr6:129486804 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1730C>T (p.Ala577Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002580009] Chr6:129192801 [GRCh38]
Chr6:129513946 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4391A>G (p.Asn1464Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003060452] Chr6:129342422 [GRCh38]
Chr6:129663567 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9360A>G (p.Pro3120=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003028884] Chr6:129516338 [GRCh38]
Chr6:129837483 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8723G>A (p.Gly2908Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002834880] Chr6:129507508 [GRCh38]
Chr6:129828653 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5697G>C (p.Gln1899His) single nucleotide variant LAMA2-related muscular dystrophy [RCV003063268] Chr6:129402458 [GRCh38]
Chr6:129723603 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.727C>T (p.Leu243=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002810273] Chr6:129143988 [GRCh38]
Chr6:129465133 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5089A>G (p.Ile1697Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002580790] Chr6:129391508 [GRCh38]
Chr6:129712653 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207-18T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002651131] Chr6:129165558 [GRCh38]
Chr6:129486703 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4737T>C (p.Thr1579=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002876924] Chr6:129366238 [GRCh38]
Chr6:129687383 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5013C>T (p.Thr1671=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002962946] Chr6:129383175 [GRCh38]
Chr6:129704320 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3556-4G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002834917] Chr6:129315472 [GRCh38]
Chr6:129636617 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+7G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002806925] Chr6:129514602 [GRCh38]
Chr6:129835747 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2493C>T (p.Ile831=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002577657] Chr6:129280103 [GRCh38]
Chr6:129601248 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8888T>C (p.Leu2963Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV003087307] Chr6:129512393 [GRCh38]
Chr6:129833538 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7707G>A (p.Gly2569=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002716081] Chr6:129481397 [GRCh38]
Chr6:129802542 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2564C>T (p.Pro855Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002651200] Chr6:129287873 [GRCh38]
Chr6:129609018 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5866-7T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002676186] Chr6:129427745 [GRCh38]
Chr6:129748890 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.946G>T (p.Asp316Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003088371] Chr6:129149015 [GRCh38]
Chr6:129470160 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8724C>G (p.Gly2908=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002633803] Chr6:129507509 [GRCh38]
Chr6:129828654 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4306T>A (p.Cys1436Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003093023] Chr6:129328407 [GRCh38]
Chr6:129649552 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6244G>A (p.Val2082Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV002634179] Chr6:129440974 [GRCh38]
Chr6:129762119 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9048T>C (p.Val3016=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002582201] Chr6:129514432 [GRCh38]
Chr6:129835577 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7439+12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003050746] Chr6:129473364 [GRCh38]
Chr6:129794509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6707+15A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV002725857] Chr6:129454303 [GRCh38]
Chr6:129775448 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6211A>C (p.Lys2071Gln) single nucleotide variant LAMA2-related muscular dystrophy [RCV003093671] Chr6:129440941 [GRCh38]
Chr6:129762086 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6980G>T (p.Gly2327Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003069691] Chr6:129460312 [GRCh38]
Chr6:129781457 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7190A>G (p.His2397Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003066913] Chr6:129465179 [GRCh38]
Chr6:129786324 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9088G>C (p.Ala3030Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002635824] Chr6:129514472 [GRCh38]
Chr6:129835617 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4201C>T (p.Leu1401=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002635825] Chr6:129328302 [GRCh38]
Chr6:129649447 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003049677] Chr6:129312854 [GRCh38]
Chr6:129633999 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8120T>C (p.Ile2707Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003050890] Chr6:129492359 [GRCh38]
Chr6:129813504 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.819+12T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002634128] Chr6:129144092 [GRCh38]
Chr6:129465237 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7722T>C (p.Pro2574=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002814332] Chr6:129481412 [GRCh38]
Chr6:129802557 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5354A>C (p.Asp1785Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002676972] Chr6:129393164 [GRCh38]
Chr6:129714309 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4888G>A (p.Glu1630Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002634693] Chr6:129369919 [GRCh38]
Chr6:129691064 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4097G>T (p.Arg1366Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002654100] Chr6:129320576 [GRCh38]
Chr6:129641721 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.619C>A (p.His207Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002815032] Chr6:129098395 [GRCh38]
Chr6:129419540 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4023C>G (p.Ile1341Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV002725592] Chr6:129316136 [GRCh38]
Chr6:129637281 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3556-3C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003068655] Chr6:129315473 [GRCh38]
Chr6:129636618 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8857+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002657795] Chr6:129507650 [GRCh38]
Chr6:129828795 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5858C>A (p.Thr1953Lys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003067986] Chr6:129403952 [GRCh38]
Chr6:129725097 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4238C>G (p.Thr1413Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002943904] Chr6:129328339 [GRCh38]
Chr6:129649484 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.941G>T (p.Cys314Phe) single nucleotide variant Inborn genetic diseases [RCV002655429] Chr6:129149010 [GRCh38]
Chr6:129470155 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.820-4_820-3delinsAT indel LAMA2-related muscular dystrophy [RCV003051664] Chr6:129146955..129146956 [GRCh38]
Chr6:129468100..129468101 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6056C>G (p.Thr2019Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002943298] Chr6:129438733 [GRCh38]
Chr6:129759878 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3342T>G (p.Asp1114Glu) single nucleotide variant LAMA2-related muscular dystrophy [RCV003066169] Chr6:129313028 [GRCh38]
Chr6:129634173 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1380C>T (p.Tyr460=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003049659] Chr6:129177779 [GRCh38]
Chr6:129498924 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4179A>C (p.Ala1393=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002609214] Chr6:129328280 [GRCh38]
Chr6:129649425 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9139G>T (p.Glu3047Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002943492] Chr6:129514523 [GRCh38]
Chr6:129835668 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1609-5C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002606452] Chr6:129192675 [GRCh38]
Chr6:129513820 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6867+6G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002588937] Chr6:129456500 [GRCh38]
Chr6:129777645 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.819+11dup duplication LAMA2-related muscular dystrophy [RCV002634127] Chr6:129144090..129144091 [GRCh38]
Chr6:129465235..129465236 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003067052] Chr6:129403804 [GRCh38]
Chr6:129724949 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6430-5del deletion LAMA2-related muscular dystrophy [RCV002635305] Chr6:129452976 [GRCh38]
Chr6:129774121 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8033C>T (p.Pro2678Leu) single nucleotide variant LAMA2-related muscular dystrophy [RCV002585848] Chr6:129492035 [GRCh38]
Chr6:129813180 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5376A>T (p.Glu1792Asp) single nucleotide variant LAMA2-related muscular dystrophy [RCV002634226] Chr6:129393186 [GRCh38]
Chr6:129714331 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.367T>C (p.Tyr123His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002605742] Chr6:129059867 [GRCh38]
Chr6:129381012 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5765C>T (p.Thr1922Ile) single nucleotide variant Inborn genetic diseases [RCV002589485]|LAMA2-related muscular dystrophy [RCV002589486]|not provided [RCV003134454] Chr6:129403859 [GRCh38]
Chr6:129725004 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7749+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV002589491] Chr6:129481447 [GRCh38]
Chr6:129802592 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1207-10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002942543] Chr6:129165566 [GRCh38]
Chr6:129486711 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1008A>G (p.Leu336=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003067230] Chr6:129149077 [GRCh38]
Chr6:129470222 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.467G>A (p.Arg156His) single nucleotide variant LAMA2-related muscular dystrophy [RCV003071909]|not provided [RCV003134618] Chr6:129098243 [GRCh38]
Chr6:129419388 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.2750-19G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002608700] Chr6:129291595 [GRCh38]
Chr6:129612740 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9272T>C (p.Leu3091Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002606831] Chr6:129516250 [GRCh38]
Chr6:129837395 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6657C>T (p.Tyr2219=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002610241] Chr6:129454238 [GRCh38]
Chr6:129775383 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4749C>A (p.Leu1583=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003069549] Chr6:129366250 [GRCh38]
Chr6:129687395 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1475T>C (p.Val492Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002589957] Chr6:129190212 [GRCh38]
Chr6:129511357 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5968+14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002721305] Chr6:129427868 [GRCh38]
Chr6:129749013 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8018C>T (p.Pro2673Leu) single nucleotide variant Inborn genetic diseases [RCV002679199] Chr6:129492020 [GRCh38]
Chr6:129813165 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1601A>T (p.Tyr534Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003073310]|not provided [RCV003130833] Chr6:129190338 [GRCh38]
Chr6:129511483 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.7280T>C (p.Leu2427Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV002607967] Chr6:129465269 [GRCh38]
Chr6:129786414 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1183G>C (p.Asp395His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002633864] Chr6:129154660 [GRCh38]
Chr6:129475805 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.572A>G (p.Tyr191Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003051394] Chr6:129098348 [GRCh38]
Chr6:129419493 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4477C>G (p.Arg1493Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV003068944] Chr6:129349338 [GRCh38]
Chr6:129670483 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4215A>G (p.Pro1405=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003049775] Chr6:129328316 [GRCh38]
Chr6:129649461 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6111T>G (p.Val2037=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002652991] Chr6:129440841 [GRCh38]
Chr6:129761986 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5398G>A (p.Ala1800Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002610818] Chr6:129393208 [GRCh38]
Chr6:129714353 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.292C>G (p.Pro98Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV002613023] Chr6:129059792 [GRCh38]
Chr6:129380937 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9015G>A (p.Ala3005=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003092645] Chr6:129514399 [GRCh38]
Chr6:129835544 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002604498] Chr6:129267220 [GRCh38]
Chr6:129588365 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2209-18G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003071827] Chr6:129267088 [GRCh38]
Chr6:129588233 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5969-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003050151] Chr6:129438632 [GRCh38]
Chr6:129759777 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4478G>A (p.Arg1493His) single nucleotide variant LAMA2-related muscular dystrophy [RCV002942837] Chr6:129349339 [GRCh38]
Chr6:129670484 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5146G>A (p.Gly1716Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003068182] Chr6:129391565 [GRCh38]
Chr6:129712710 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1161T>A (p.Gly387=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003068170] Chr6:129154638 [GRCh38]
Chr6:129475783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.724C>T (p.Arg242Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV002604835] Chr6:129143985 [GRCh38]
Chr6:129465130 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.396+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV002944109] Chr6:129059897 [GRCh38]
Chr6:129381042 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4718-5C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003051573] Chr6:129366214 [GRCh38]
Chr6:129687359 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3315C>T (p.Leu1105=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002611709] Chr6:129313001 [GRCh38]
Chr6:129634146 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7G>A (p.Gly3Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV002611783] Chr6:128883252 [GRCh38]
Chr6:129204397 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6231C>G (p.Ala2077=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003068399] Chr6:129440961 [GRCh38]
Chr6:129762106 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8782A>G (p.Ser2928Gly) single nucleotide variant LAMA2-related muscular dystrophy [RCV002654666] Chr6:129507567 [GRCh38]
Chr6:129828712 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.244C>T (p.Gln82Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV002635329] Chr6:129050049 [GRCh38]
Chr6:129371194 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4437-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV002605001] Chr6:129349284 [GRCh38]
Chr6:129670429 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+3A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003072374]|not provided [RCV003134627] Chr6:129190348 [GRCh38]
Chr6:129511493 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8989T>C (p.Leu2997=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002611850] Chr6:129514373 [GRCh38]
Chr6:129835518 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6086-20A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003068637] Chr6:129440796 [GRCh38]
Chr6:129761941 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5545A>G (p.Ile1849Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV002585800] Chr6:129401323 [GRCh38]
Chr6:129722468 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7520A>G (p.Asn2507Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV002612219] Chr6:129478761 [GRCh38]
Chr6:129799906 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6134A>G (p.Asn2045Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003070524] Chr6:129440864 [GRCh38]
Chr6:129762009 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4130T>C (p.Ile1377Thr) single nucleotide variant LAMA2-related muscular dystrophy [RCV002612300] Chr6:129320609 [GRCh38]
Chr6:129641754 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3252A>G (p.Lys1084=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003070842] Chr6:129312938 [GRCh38]
Chr6:129634083 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7633G>A (p.Asp2545Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV002610432]|not provided [RCV003491252] Chr6:129481323 [GRCh38]
Chr6:129802468 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8989-16A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003050789] Chr6:129514357 [GRCh38]
Chr6:129835502 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6666G>C (p.Leu2222Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV002586256] Chr6:129454247 [GRCh38]
Chr6:129775392 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4397G>A (p.Cys1466Tyr) single nucleotide variant not provided [RCV003131426] Chr6:129342428 [GRCh38]
Chr6:129663573 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4436A>G (p.Asn1479Ser) single nucleotide variant not provided [RCV003131427] Chr6:129342467 [GRCh38]
Chr6:129663612 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4841A>G (p.Asn1614Ser) single nucleotide variant not provided [RCV003131431] Chr6:129366342 [GRCh38]
Chr6:129687487 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003155812] Chr6:129491937 [GRCh38]
Chr6:129813082 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.2650G>C (p.Gly884Arg) single nucleotide variant not provided [RCV003131439] Chr6:129287959 [GRCh38]
Chr6:129609104 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4487C>A (p.Ala1496Asp) single nucleotide variant not provided [RCV003131425] Chr6:129349348 [GRCh38]
Chr6:129670493 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7942A>C (p.Asn2648His) single nucleotide variant not provided [RCV003131421] Chr6:129491944 [GRCh38]
Chr6:129813089 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5212G>A (p.Glu1738Lys) single nucleotide variant not provided [RCV003131423] Chr6:129391631 [GRCh38]
Chr6:129712776 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8529T>G (p.Asn2843Lys) single nucleotide variant not provided [RCV003131424] Chr6:129503262 [GRCh38]
Chr6:129824407 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6337C>T (p.Leu2113Phe) single nucleotide variant not provided [RCV003131441] Chr6:129445729 [GRCh38]
Chr6:129766874 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8456G>A (p.Arg2819Lys) single nucleotide variant not provided [RCV003131447] Chr6:129503189 [GRCh38]
Chr6:129824334 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2791C>T (p.His931Tyr) single nucleotide variant not provided [RCV003131450] Chr6:129291655 [GRCh38]
Chr6:129612800 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8855C>G (p.Ala2952Gly) single nucleotide variant Inborn genetic diseases [RCV003192426]|LAMA2-related muscular dystrophy [RCV003738396] Chr6:129507640 [GRCh38]
Chr6:129828785 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.129802434_(129802585_129807618)del deletion LAMA2-related muscular dystrophy [RCV003226671]   likely pathogenic
NM_000426.4(LAMA2):c.1782+2_1782+3insTT insertion not specified [RCV003226672] Chr6:129192854..129192855 [GRCh38]
Chr6:129513999..129514000 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207-1G>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003225670] Chr6:129165575 [GRCh38]
Chr6:129486720 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8156A>G (p.Glu2719Gly) single nucleotide variant Inborn genetic diseases [RCV003203656] Chr6:129492395 [GRCh38]
Chr6:129813540 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.731G>A (p.Arg244Lys) single nucleotide variant Inborn genetic diseases [RCV003210260] Chr6:129143992 [GRCh38]
Chr6:129465137 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8326A>G (p.Ile2776Val) single nucleotide variant Inborn genetic diseases [RCV003211738] Chr6:129502740 [GRCh38]
Chr6:129823885 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8290A>C (p.Lys2764Gln) single nucleotide variant not provided [RCV003131443] Chr6:129502704 [GRCh38]
Chr6:129823849 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1207G>A (p.Val403Ile) single nucleotide variant not provided [RCV003133993] Chr6:129165576 [GRCh38]
Chr6:129486721 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.435C>G (p.Asn145Lys) single nucleotide variant not provided [RCV003133997] Chr6:129098211 [GRCh38]
Chr6:129419356 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8276T>G (p.Leu2759Arg) single nucleotide variant Inborn genetic diseases [RCV003211665] Chr6:129502690 [GRCh38]
Chr6:129823835 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4365C>G (p.Tyr1455Ter) single nucleotide variant not provided [RCV003146897] Chr6:129342396 [GRCh38]
Chr6:129663541 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5949G>C (p.Lys1983Asn) single nucleotide variant not provided [RCV003133978] Chr6:129427835 [GRCh38]
Chr6:129748980 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6163A>G (p.Ile2055Val) single nucleotide variant not provided [RCV003131422] Chr6:129440893 [GRCh38]
Chr6:129762038 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2877_2878dup (p.Ser960fs) duplication Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003159296] Chr6:129297704..129297705 [GRCh38]
Chr6:129618849..129618850 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8780C>T (p.Ser2927Phe) single nucleotide variant not provided [RCV003133979] Chr6:129507565 [GRCh38]
Chr6:129828710 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5827A>G (p.Lys1943Glu) single nucleotide variant not provided [RCV003133980] Chr6:129403921 [GRCh38]
Chr6:129725066 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.545T>G (p.Ile182Ser) single nucleotide variant not provided [RCV003133998] Chr6:129098321 [GRCh38]
Chr6:129419466 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7889G>A (p.Arg2630Gln) single nucleotide variant not provided [RCV003133999] Chr6:129486613 [GRCh38]
Chr6:129807758 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1775G>A (p.Gly592Glu) single nucleotide variant Inborn genetic diseases [RCV003199831] Chr6:129192846 [GRCh38]
Chr6:129513991 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4945G>T (p.Glu1649Ter) single nucleotide variant not provided [RCV003146874] Chr6:129369976 [GRCh38]
Chr6:129691121 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1780_1781insC (p.Lys594fs) insertion not provided [RCV003146888] Chr6:129192851..129192852 [GRCh38]
Chr6:129513996..129513997 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7636G>A (p.Val2546Ile) single nucleotide variant not provided [RCV003133975] Chr6:129481326 [GRCh38]
Chr6:129802471 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4010A>T (p.His1337Leu) single nucleotide variant not provided [RCV003133976] Chr6:129316123 [GRCh38]
Chr6:129637268 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3426C>T (p.Gly1142=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738365]|not provided [RCV003133991] Chr6:129314669 [GRCh38]
Chr6:129635814 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.1666C>T (p.Pro556Ser) single nucleotide variant not provided [RCV003133996] Chr6:129192737 [GRCh38]
Chr6:129513882 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5326C>A (p.Leu1776Met) single nucleotide variant not provided [RCV003134003] Chr6:129393136 [GRCh38]
Chr6:129714281 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1658G>T (p.Arg553Leu) single nucleotide variant not provided [RCV003134016] Chr6:129192729 [GRCh38]
Chr6:129513874 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4721G>A (p.Cys1574Tyr) single nucleotide variant not provided [RCV003134017] Chr6:129366222 [GRCh38]
Chr6:129687367 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2450A>C (p.Asn817Thr) single nucleotide variant not provided [RCV003134018] Chr6:129270751 [GRCh38]
Chr6:129591896 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4405T>C (p.Cys1469Arg) single nucleotide variant not provided [RCV003133977] Chr6:129342436 [GRCh38]
Chr6:129663581 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3757C>T (p.Leu1253Phe) single nucleotide variant not provided [RCV003133989] Chr6:129315783 [GRCh38]
Chr6:129636928 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6352G>A (p.Glu2118Lys) single nucleotide variant not provided [RCV003134005] Chr6:129445744 [GRCh38]
Chr6:129766889 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3437A>C (p.Asp1146Ala) single nucleotide variant not provided [RCV003142607] Chr6:129314680 [GRCh38]
Chr6:129635825 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6574-3T>G single nucleotide variant not provided [RCV003133981] Chr6:129454152 [GRCh38]
Chr6:129775297 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.358G>C (p.Glu120Gln) single nucleotide variant not provided [RCV003133982] Chr6:129059858 [GRCh38]
Chr6:129381003 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8312dup (p.Asn2771fs) duplication Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003153053] Chr6:129502723..129502724 [GRCh38]
Chr6:129823868..129823869 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1782+2_1782+6delinsCC indel not provided [RCV003146907] Chr6:129192855..129192859 [GRCh38]
Chr6:129514000..129514004 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2990A>G (p.Asp997Gly) single nucleotide variant not provided [RCV003133986] Chr6:129297818 [GRCh38]
Chr6:129618963 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7534C>T (p.Pro2512Ser) single nucleotide variant not provided [RCV003134013] Chr6:129478775 [GRCh38]
Chr6:129799920 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6209A>G (p.Asn2070Ser) single nucleotide variant not provided [RCV003134000] Chr6:129440939 [GRCh38]
Chr6:129762084 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2755C>G (p.Arg919Gly) single nucleotide variant Muscular dystrophy [RCV003229540] Chr6:129291619 [GRCh38]
Chr6:129612764 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.442del (p.Arg148fs) deletion Merosin deficient congenital muscular dystrophy [RCV003225669] Chr6:129098213 [GRCh38]
Chr6:129419358 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8076-3T>C single nucleotide variant not provided [RCV003223231] Chr6:129492312 [GRCh38]
Chr6:129813457 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8988+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003226036] Chr6:129512494 [GRCh38]
Chr6:129833639 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4379del (p.Lys1460fs) deletion LAMA2-related muscular dystrophy [RCV003226673] Chr6:129342409 [GRCh38]
Chr6:129663554 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7334A>T (p.Gln2445Leu) single nucleotide variant not provided [RCV003229452] Chr6:129473247 [GRCh38]
Chr6:129794392 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.392A>T (p.Gln131Leu) single nucleotide variant not provided [RCV003133988] Chr6:129059892 [GRCh38]
Chr6:129381037 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2156C>T (p.Ala719Val) single nucleotide variant not provided [RCV003134004] Chr6:129260770 [GRCh38]
Chr6:129581915 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3122G>A (p.Cys1041Tyr) single nucleotide variant not provided [RCV003134006] Chr6:129300820 [GRCh38]
Chr6:129621965 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6869A>G (p.Lys2290Arg) single nucleotide variant not provided [RCV003134007] Chr6:129460201 [GRCh38]
Chr6:129781346 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4499G>T (p.Gly1500Val) single nucleotide variant not provided [RCV003134020] Chr6:129349360 [GRCh38]
Chr6:129670505 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3724G>A (p.Glu1242Lys) single nucleotide variant not provided [RCV003134021] Chr6:129315644 [GRCh38]
Chr6:129636789 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9109A>C (p.Ile3037Leu) single nucleotide variant not provided [RCV003134022] Chr6:129514493 [GRCh38]
Chr6:129835638 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3259G>A (p.Gly1087Ser) single nucleotide variant not provided [RCV003134023] Chr6:129312945 [GRCh38]
Chr6:129634090 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2539T>C (p.Cys847Arg) single nucleotide variant Inborn genetic diseases [RCV003308954] Chr6:129287848 [GRCh38]
Chr6:129608993 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.928G>C (p.Glu310Gln) single nucleotide variant Inborn genetic diseases [RCV003288108] Chr6:129148997 [GRCh38]
Chr6:129470142 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1 copy number loss Intellectual disability, autosomal dominant 55, with seizures [RCV003327704] Chr6:113857248..130442177 [GRCh38]
Chr6:6q21-23.1		 pathogenic
NM_000426.4(LAMA2):c.5172G>T (p.Met1724Ile) single nucleotide variant Inborn genetic diseases [RCV003343497] Chr6:129391591 [GRCh38]
Chr6:129712736 [GRCh37]
Chr6:6q22.33		 uncertain significance
NC_000006.11:g.(129381042_129419317)_(129419561_129465045)del deletion LAMA2-related muscular dystrophy [RCV003331964] Chr6:129419317..129419561 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2852G>A (p.Cys951Tyr) single nucleotide variant Inborn genetic diseases [RCV003364490] Chr6:129291716 [GRCh38]
Chr6:129612861 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8678A>C (p.Asn2893Thr) single nucleotide variant Inborn genetic diseases [RCV003364671] Chr6:129505330 [GRCh38]
Chr6:129826475 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4598G>C (p.Gly1533Ala) single nucleotide variant Inborn genetic diseases [RCV003386742] Chr6:129353238 [GRCh38]
Chr6:129674383 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8953dup (p.Met2985fs) duplication Merosin deficient congenital muscular dystrophy [RCV003461778] Chr6:129512452..129512453 [GRCh38]
Chr6:129833597..129833598 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8256del (p.Ala2753fs) deletion LAMA2-related muscular dystrophy [RCV003738469]|Merosin deficient congenital muscular dystrophy [RCV003461783] Chr6:129502670 [GRCh38]
Chr6:129823815 [GRCh37]
Chr6:6q22.33		 pathogenic|likely pathogenic
NM_000426.4(LAMA2):c.8958_8961del (p.Asp2986fs) microsatellite Merosin deficient congenital muscular dystrophy [RCV003461787] Chr6:129512458..129512461 [GRCh38]
Chr6:129833603..129833606 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2323-2A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003988119]|Merosin deficient congenital muscular dystrophy [RCV003469907] Chr6:129270622 [GRCh38]
Chr6:129591767 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6623G>A (p.Trp2208Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469911] Chr6:129454204 [GRCh38]
Chr6:129775349 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4097_4112del (p.Arg1366fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469913] Chr6:129320573..129320588 [GRCh38]
Chr6:129641718..129641733 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1188dup (p.Phe397fs) duplication Merosin deficient congenital muscular dystrophy [RCV003469915] Chr6:129154664..129154665 [GRCh38]
Chr6:129475809..129475810 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8540G>A (p.Trp2847Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469921] Chr6:129503273 [GRCh38]
Chr6:129824418 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.112+1G>T single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469927] Chr6:128883358 [GRCh38]
Chr6:129204503 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4285dup (p.Cys1429fs) duplication Merosin deficient congenital muscular dystrophy [RCV003469903] Chr6:129328385..129328386 [GRCh38]
Chr6:129649530..129649531 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3982del (p.Asp1328fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469902] Chr6:129316095 [GRCh38]
Chr6:129637240 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1121_1129delinsTACTT (p.Gly374fs) indel Merosin deficient congenital muscular dystrophy [RCV003469899] Chr6:129154598..129154606 [GRCh38]
Chr6:129475743..129475751 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2811_2812del (p.Cys937_Glu938delinsTer) microsatellite Merosin deficient congenital muscular dystrophy [RCV003469897] Chr6:129291672..129291673 [GRCh38]
Chr6:129612817..129612818 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5552C>A (p.Ser1851Tyr) single nucleotide variant not provided [RCV003487986] Chr6:129401330 [GRCh38]
Chr6:129722475 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4777G>A (p.Val1593Ile) single nucleotide variant not provided [RCV003487992] Chr6:129366278 [GRCh38]
Chr6:129687423 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1682_1688del (p.Leu561fs) deletion Merosin deficient congenital muscular dystrophy [RCV003461780] Chr6:129192753..129192759 [GRCh38]
Chr6:129513898..129513904 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4319_4323del (p.Gln1440fs) deletion Merosin deficient congenital muscular dystrophy [RCV003461782] Chr6:129342350..129342354 [GRCh38]
Chr6:129663495..129663499 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2788del (p.Cys930fs) deletion Merosin deficient congenital muscular dystrophy [RCV003461785] Chr6:129291650 [GRCh38]
Chr6:129612795 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5342del (p.Asn1781fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469928] Chr6:129393148 [GRCh38]
Chr6:129714293 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1638_1641del (p.Asp547fs) microsatellite Merosin deficient congenital muscular dystrophy [RCV003469929] Chr6:129192704..129192707 [GRCh38]
Chr6:129513849..129513852 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1973_1991delinsTAA (p.Glu658fs) indel Merosin deficient congenital muscular dystrophy [RCV003469900] Chr6:129252172..129252190 [GRCh38]
Chr6:129573317..129573335 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2514del (p.Tyr839fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469892] Chr6:129280122 [GRCh38]
Chr6:129601267 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.222T>C (p.Pro74=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003874633] Chr6:129050027 [GRCh38]
Chr6:129371172 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.183del (p.Gly62fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469917] Chr6:129049984 [GRCh38]
Chr6:129371129 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6103C>T (p.Gln2035Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469918] Chr6:129440833 [GRCh38]
Chr6:129761978 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.987del (p.Trp330fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469925] Chr6:129149054 [GRCh38]
Chr6:129470199 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7573-14T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003875593] Chr6:129481249 [GRCh38]
Chr6:129802394 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4878del (p.Gln1626fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469906] Chr6:129369909 [GRCh38]
Chr6:129691054 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8849_8857+1del deletion Merosin deficient congenital muscular dystrophy [RCV003469904] Chr6:129507633..129507642 [GRCh38]
Chr6:129828778..129828787 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7003del (p.Glu2335fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469894] Chr6:129464299 [GRCh38]
Chr6:129785444 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4176+20C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003873945] Chr6:129320675 [GRCh38]
Chr6:129641820 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.113-16del deletion LAMA2-related muscular dystrophy [RCV003875484] Chr6:129049900 [GRCh38]
Chr6:129371045 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.664_665insAC (p.Arg222fs) insertion LAMA2-related muscular dystrophy [RCV003874822] Chr6:129143925..129143926 [GRCh38]
Chr6:129465070..129465071 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8276T>C (p.Leu2759Pro) single nucleotide variant not provided [RCV003481821] Chr6:129502690 [GRCh38]
Chr6:129823835 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.30T>C (p.Leu10=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003874852] Chr6:128883275 [GRCh38]
Chr6:129204420 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7042dup (p.Tyr2348fs) duplication LAMA2-related muscular dystrophy [RCV003872714] Chr6:129464337..129464338 [GRCh38]
Chr6:129785482..129785483 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4510C>T (p.Gln1504Ter) single nucleotide variant not provided [RCV003432041] Chr6:129349371 [GRCh38]
Chr6:129670516 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7692_7693insA (p.Leu2565fs) insertion Merosin deficient congenital muscular dystrophy [RCV003469914] Chr6:129481382..129481383 [GRCh38]
Chr6:129802527..129802528 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7301-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003738468]|Merosin deficient congenital muscular dystrophy [RCV003469895] Chr6:129473213 [GRCh38]
Chr6:129794358 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.861C>A (p.Cys287Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469891] Chr6:129147000 [GRCh38]
Chr6:129468145 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4679G>A (p.Cys1560Tyr) single nucleotide variant not provided [RCV003481819] Chr6:129353319 [GRCh38]
Chr6:129674464 [GRCh37]
Chr6:6q22.33		 uncertain significance
GRCh37/hg19 6q22.31-23.3(chr6:120218852-137160850)x1 copy number loss not provided [RCV003482930] Chr6:120218852..137160850 [GRCh37]
Chr6:6q22.31-23.3		 pathogenic
NM_000426.4(LAMA2):c.8787_8793del (p.Phe2929fs) deletion Merosin deficient congenital muscular dystrophy [RCV003461777] Chr6:129507570..129507576 [GRCh38]
Chr6:129828715..129828721 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1336A>G (p.Thr446Ala) single nucleotide variant not provided [RCV003481818] Chr6:129177735 [GRCh38]
Chr6:129498880 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8673C>A (p.Pro2891=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581937]|not provided [RCV003428946] Chr6:129505325 [GRCh38]
Chr6:129826470 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1232G>C (p.Cys411Ser) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003447919] Chr6:129165601 [GRCh38]
Chr6:129486746 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2723del (p.Asp908fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469923] Chr6:129288032 [GRCh38]
Chr6:129609177 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.16_49del (p.Gly6fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469924] Chr6:128883258..128883291 [GRCh38]
Chr6:129204403..129204436 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8079dup (p.Met2694fs) duplication Merosin deficient congenital muscular dystrophy [RCV003469930] Chr6:129492314..129492315 [GRCh38]
Chr6:129813459..129813460 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6948G>A (p.Trp2316Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469898] Chr6:129460280 [GRCh38]
Chr6:129781425 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7469A>C (p.Lys2490Thr) single nucleotide variant not provided [RCV003487987] Chr6:129478710 [GRCh38]
Chr6:129799855 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3533C>T (p.Ala1178Val) single nucleotide variant not provided [RCV003487991] Chr6:129314776 [GRCh38]
Chr6:129635921 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3217A>G (p.Asn1073Asp) single nucleotide variant not provided [RCV003428944] Chr6:129312903 [GRCh38]
Chr6:129634048 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2856+1G>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003476458] Chr6:129291721 [GRCh38]
Chr6:129612866 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2239G>T (p.Gly747Cys) single nucleotide variant not provided [RCV003482753] Chr6:129267136 [GRCh38]
Chr6:129588281 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.640-6127A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003454383] Chr6:129137774 [GRCh38]
Chr6:129458919 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1522C>T (p.Gln508Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003476457] Chr6:129190259 [GRCh38]
Chr6:129511404 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3872T>C (p.Met1291Thr) single nucleotide variant not provided [RCV003428945] Chr6:129315898 [GRCh38]
Chr6:129637043 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9221del (p.Lys3074fs) deletion Merosin deficient congenital muscular dystrophy [RCV003461779] Chr6:129516198 [GRCh38]
Chr6:129837343 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2937_2938del (p.Cys979_Glu980delinsTer) microsatellite Merosin deficient congenital muscular dystrophy [RCV003461781] Chr6:129297763..129297764 [GRCh38]
Chr6:129618908..129618909 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2768_2771dup (p.Ser925fs) duplication Merosin deficient congenital muscular dystrophy [RCV003461784] Chr6:129291630..129291631 [GRCh38]
Chr6:129612775..129612776 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8979_8982dup (p.Glu2995Ter) microsatellite Merosin deficient congenital muscular dystrophy [RCV003461786] Chr6:129512479..129512480 [GRCh38]
Chr6:129833624..129833625 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4623T>G (p.Pro1541=) single nucleotide variant not provided [RCV003432042] Chr6:129353263 [GRCh38]
Chr6:129674408 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1139A>G (p.Asn380Ser) single nucleotide variant LAMA2-related condition [RCV003406146] Chr6:129154616 [GRCh38]
Chr6:129475761 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.283+2T>A single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469908] Chr6:129050090 [GRCh38]
Chr6:129371235 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1782_1782+1delinsT indel Merosin deficient congenital muscular dystrophy [RCV003469909] Chr6:129192853..129192854 [GRCh38]
Chr6:129513998..129513999 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2537+1G>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469910] Chr6:129280148 [GRCh38]
Chr6:129601293 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2803G>T (p.Gly935Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469912] Chr6:129291667 [GRCh38]
Chr6:129612812 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4861del (p.His1621fs) deletion Merosin deficient congenital muscular dystrophy [RCV003469916] Chr6:129369892 [GRCh38]
Chr6:129691037 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7899-1G>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469919] Chr6:129491900 [GRCh38]
Chr6:129813045 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4886dup (p.Glu1630fs) duplication Merosin deficient congenital muscular dystrophy [RCV003469920] Chr6:129369913..129369914 [GRCh38]
Chr6:129691058..129691059 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1307-2A>G single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469926] Chr6:129177704 [GRCh38]
Chr6:129498849 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8625dup (p.Ala2876fs) duplication Merosin deficient congenital muscular dystrophy [RCV003469905] Chr6:129505271..129505272 [GRCh38]
Chr6:129826416..129826417 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1976C>A (p.Ser659Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469901] Chr6:129252175 [GRCh38]
Chr6:129573320 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.113-2A>C single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469896] Chr6:129049916 [GRCh38]
Chr6:129371061 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2790C>A (p.Cys930Ter) single nucleotide variant Merosin deficient congenital muscular dystrophy [RCV003469893] Chr6:129291654 [GRCh38]
Chr6:129612799 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6563G>C (p.Ser2188Thr) single nucleotide variant LAMA2-related condition [RCV003405954] Chr6:129453121 [GRCh38]
Chr6:129774266 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5727-19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003740041] Chr6:129403802 [GRCh38]
Chr6:129724947 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.283+15G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003575135] Chr6:129050103 [GRCh38]
Chr6:129371248 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6086-7C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003575129] Chr6:129440809 [GRCh38]
Chr6:129761954 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5445+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003575128] Chr6:129393256 [GRCh38]
Chr6:129714401 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2322+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003877752] Chr6:129267235 [GRCh38]
Chr6:129588380 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9188_9189del (p.Pro3063fs) deletion LAMA2-related muscular dystrophy [RCV003575120] Chr6:129514572..129514573 [GRCh38]
Chr6:129835717..129835718 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4436+11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003575119] Chr6:129342478 [GRCh38]
Chr6:129663623 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1467+17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738802] Chr6:129177883 [GRCh38]
Chr6:129499028 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-13T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003825310] Chr6:129445654 [GRCh38]
Chr6:129766799 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3146G>A (p.Trp1049Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003876702] Chr6:129300844 [GRCh38]
Chr6:129621989 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8742C>T (p.His2914=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739521] Chr6:129507527 [GRCh38]
Chr6:129828672 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1929G>A (p.Leu643=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739523] Chr6:129252128 [GRCh38]
Chr6:129573273 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739530] Chr6:129297669 [GRCh38]
Chr6:129618814 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.283+13G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003881896] Chr6:129050101 [GRCh38]
Chr6:129371246 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2750-17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739560] Chr6:129291597 [GRCh38]
Chr6:129612742 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-7A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577763] Chr6:129280054 [GRCh38]
Chr6:129601199 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2592A>T (p.Pro864=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577772] Chr6:129287901 [GRCh38]
Chr6:129609046 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-18T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577780] Chr6:129403803 [GRCh38]
Chr6:129724948 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4176+12_4176+22del deletion LAMA2-related muscular dystrophy [RCV003577781] Chr6:129320663..129320673 [GRCh38]
Chr6:129641808..129641818 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2631C>T (p.Gly877=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577804] Chr6:129287940 [GRCh38]
Chr6:129609085 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7774A>C (p.Arg2592=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739553] Chr6:129486498 [GRCh38]
Chr6:129807643 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3093T>C (p.Ile1031=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577814] Chr6:129300791 [GRCh38]
Chr6:129621936 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+16G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577847] Chr6:129315966 [GRCh38]
Chr6:129637111 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5968+16G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577861] Chr6:129427870 [GRCh38]
Chr6:129749015 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7440-17T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577864] Chr6:129475373 [GRCh38]
Chr6:129796518 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.615G>A (p.Lys205=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577875] Chr6:129098391 [GRCh38]
Chr6:129419536 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7300+15T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577835] Chr6:129465304 [GRCh38]
Chr6:129786449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3183C>T (p.Asn1061=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739445] Chr6:129312869 [GRCh38]
Chr6:129634014 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+10A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577759] Chr6:128883367 [GRCh38]
Chr6:129204512 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4311+14C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577783] Chr6:129328426 [GRCh38]
Chr6:129649571 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7300+14G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577793] Chr6:129465303 [GRCh38]
Chr6:129786448 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6085+2T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577794] Chr6:129438764 [GRCh38]
Chr6:129759909 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3175-4A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577795] Chr6:129312857 [GRCh38]
Chr6:129634002 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3144C>G (p.Thr1048=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738750] Chr6:129300842 [GRCh38]
Chr6:129621987 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003576077] Chr6:129312853 [GRCh38]
Chr6:129633998 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.428_432del (p.Ala143fs) deletion LAMA2-related muscular dystrophy [RCV003577805] Chr6:129098204..129098208 [GRCh38]
Chr6:129419349..129419353 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8548-19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577809] Chr6:129505181 [GRCh38]
Chr6:129826326 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+11G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577816] Chr6:129512504 [GRCh38]
Chr6:129833649 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+11A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577859] Chr6:129144091 [GRCh38]
Chr6:129465236 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4058+8_4058+9del microsatellite LAMA2-related muscular dystrophy [RCV003739516] Chr6:129316177..129316178 [GRCh38]
Chr6:129637322..129637323 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4177-18G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739519] Chr6:129328260 [GRCh38]
Chr6:129649405 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2154A>G (p.Ala718=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739525] Chr6:129260768 [GRCh38]
Chr6:129581913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7155+15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739544] Chr6:129464467 [GRCh38]
Chr6:129785612 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8436T>C (p.Asp2812=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739550] Chr6:129503169 [GRCh38]
Chr6:129824314 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8357+8T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003573529] Chr6:129502779 [GRCh38]
Chr6:129823924 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9294C>T (p.Gly3098=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576098] Chr6:129516272 [GRCh38]
Chr6:129837417 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1207-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003576099] Chr6:129165574 [GRCh38]
Chr6:129486719 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5072-5del deletion LAMA2-related muscular dystrophy [RCV003576108] Chr6:129391486 [GRCh38]
Chr6:129712631 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577824] Chr6:129445647 [GRCh38]
Chr6:129766792 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8704-3del deletion LAMA2-related muscular dystrophy [RCV003577853] Chr6:129507484 [GRCh38]
Chr6:129828629 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+16_909+18del deletion LAMA2-related muscular dystrophy [RCV003739572] Chr6:129147063..129147065 [GRCh38]
Chr6:129468208..129468210 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.112+21del deletion LAMA2-related muscular dystrophy [RCV003738931] Chr6:128883377 [GRCh38]
Chr6:129204522 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003740046] Chr6:129512352 [GRCh38]
Chr6:129833497 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.375A>G (p.Thr125=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573537] Chr6:129059875 [GRCh38]
Chr6:129381020 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3768_3771dup (p.Tyr1258fs) duplication LAMA2-related muscular dystrophy [RCV003573550] Chr6:129315792..129315793 [GRCh38]
Chr6:129636937..129636938 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5969-10T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003575150] Chr6:129438636 [GRCh38]
Chr6:129759781 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5562+12G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003575161] Chr6:129401352 [GRCh38]
Chr6:129722497 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7451+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003573524] Chr6:129475421 [GRCh38]
Chr6:129796566 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5969-9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573525] Chr6:129438637 [GRCh38]
Chr6:129759782 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1307-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573530] Chr6:129177692 [GRCh38]
Chr6:129498837 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8548-20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003573533] Chr6:129505180 [GRCh38]
Chr6:129826325 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.799G>A (p.Asp267Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573547] Chr6:129144060 [GRCh38]
Chr6:129465205 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4035T>G (p.Tyr1345Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573551] Chr6:129316148 [GRCh38]
Chr6:129637293 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8703+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003573553] Chr6:129505356 [GRCh38]
Chr6:129826501 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4437-20T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003876098] Chr6:129349278 [GRCh38]
Chr6:129670423 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+9_7572+11dup duplication LAMA2-related muscular dystrophy [RCV003573581] Chr6:129478820..129478821 [GRCh38]
Chr6:129799965..129799966 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8548-15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003573574] Chr6:129505185 [GRCh38]
Chr6:129826330 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003573569] Chr6:129143883 [GRCh38]
Chr6:129465028 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.8853A>G (p.Lys2951=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573566] Chr6:129507638 [GRCh38]
Chr6:129828783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7665C>T (p.Ser2555=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575151] Chr6:129481355 [GRCh38]
Chr6:129802500 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6867+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003575152] Chr6:129456510 [GRCh38]
Chr6:129777655 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5727-1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003575156] Chr6:129403820 [GRCh38]
Chr6:129724965 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.7749+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003575164] Chr6:129481440 [GRCh38]
Chr6:129802585 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5697G>A (p.Gln1899=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575165] Chr6:129402458 [GRCh38]
Chr6:129723603 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5188A>C (p.Arg1730=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575133] Chr6:129391607 [GRCh38]
Chr6:129712752 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-19G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003876996] Chr6:129314636 [GRCh38]
Chr6:129635781 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-5T>G single nucleotide variant not provided [RCV003487988] Chr6:129252079 [GRCh38]
Chr6:129573224 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3730A>G (p.Lys1244Glu) single nucleotide variant not provided [RCV003487990] Chr6:129315650 [GRCh38]
Chr6:129636795 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8746G>A (p.Ala2916Thr) single nucleotide variant not provided [RCV003487994] Chr6:129507531 [GRCh38]
Chr6:129828676 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2322+15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003826822] Chr6:129267234 [GRCh38]
Chr6:129588379 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-12T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003827544] Chr6:129402312 [GRCh38]
Chr6:129723457 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+11A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003828780] Chr6:129270762 [GRCh38]
Chr6:129591907 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6444_6445del (p.Ser2149fs) microsatellite LAMA2-related muscular dystrophy [RCV003577750] Chr6:129452999..129453000 [GRCh38]
Chr6:129774144..129774145 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5866-19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577762] Chr6:129427733 [GRCh38]
Chr6:129748878 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2961C>T (p.Cys987=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577764] Chr6:129297789 [GRCh38]
Chr6:129618934 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577765] Chr6:129443062 [GRCh38]
Chr6:129764207 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.5277A>G (p.Gly1759=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577768] Chr6:129393087 [GRCh38]
Chr6:129714232 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-7T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577775] Chr6:129316031 [GRCh38]
Chr6:129637176 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577777] Chr6:129190188 [GRCh38]
Chr6:129511333 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7301-15C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577786] Chr6:129473199 [GRCh38]
Chr6:129794344 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6534T>C (p.Val2178=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577788] Chr6:129453092 [GRCh38]
Chr6:129774237 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3037+17T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577798] Chr6:129297882 [GRCh38]
Chr6:129619027 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577800] Chr6:129315745 [GRCh38]
Chr6:129636890 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+14T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577845] Chr6:129315964 [GRCh38]
Chr6:129637109 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5445+13G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003738846] Chr6:129393268 [GRCh38]
Chr6:129714413 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8550T>A (p.Ile2850=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577843] Chr6:129505202 [GRCh38]
Chr6:129826347 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8548-17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577855] Chr6:129505183 [GRCh38]
Chr6:129826328 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.759T>C (p.Ala253=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577856] Chr6:129144020 [GRCh38]
Chr6:129465165 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2421T>A (p.Cys807Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577876] Chr6:129270722 [GRCh38]
Chr6:129591867 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5865+19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577877] Chr6:129403978 [GRCh38]
Chr6:129725123 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+20T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577879] Chr6:129288078 [GRCh38]
Chr6:129609223 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2289G>T (p.Ala763=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003878695] Chr6:129267186 [GRCh38]
Chr6:129588331 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-10_3736-6del deletion LAMA2-related muscular dystrophy [RCV003577826] Chr6:129315748..129315752 [GRCh38]
Chr6:129636893..129636897 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1203A>G (p.Lys401=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003879889] Chr6:129154680 [GRCh38]
Chr6:129475825 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-11T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738921] Chr6:129512352 [GRCh38]
Chr6:129833497 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-18G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003739284] Chr6:129401206 [GRCh38]
Chr6:129722351 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.87G>A (p.Arg29=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738743] Chr6:128883332 [GRCh38]
Chr6:129204477 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738748] Chr6:129250230 [GRCh38]
Chr6:129571375 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.996T>A (p.Ala332=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576080] Chr6:129149065 [GRCh38]
Chr6:129470210 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+18C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003576084] Chr6:129270769 [GRCh38]
Chr6:129591914 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4115del (p.Pro1372fs) deletion LAMA2-related muscular dystrophy [RCV003576085] Chr6:129320593 [GRCh38]
Chr6:129641738 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5562+11G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003738880] Chr6:129401351 [GRCh38]
Chr6:129722496 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+17T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003576095] Chr6:129313114 [GRCh38]
Chr6:129634259 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7131G>C (p.Leu2377=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576097] Chr6:129464428 [GRCh38]
Chr6:129785573 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4059-8G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003576103] Chr6:129320530 [GRCh38]
Chr6:129641675 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2538-17G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003576104] Chr6:129287830 [GRCh38]
Chr6:129608975 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.489C>T (p.Tyr163=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577831] Chr6:129098265 [GRCh38]
Chr6:129419410 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9054G>A (p.Gly3018=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577827] Chr6:129514438 [GRCh38]
Chr6:129835583 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2037G>A (p.Ala679=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577823] Chr6:129252236 [GRCh38]
Chr6:129573381 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2209-16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003738727] Chr6:129267090 [GRCh38]
Chr6:129588235 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5273T>C (p.Phe1758Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576072] Chr6:129393083 [GRCh38]
Chr6:129714228 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2209-15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003576073] Chr6:129267091 [GRCh38]
Chr6:129588236 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3038-11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003739457] Chr6:129300725 [GRCh38]
Chr6:129621870 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3060T>C (p.Gly1020=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003879436] Chr6:129300758 [GRCh38]
Chr6:129621903 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1306+16G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003576078] Chr6:129165691 [GRCh38]
Chr6:129486836 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003830598] Chr6:129297671 [GRCh38]
Chr6:129618816 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1027+16G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003828997] Chr6:129149112 [GRCh38]
Chr6:129470257 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2523A>T (p.Gly841=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003829879] Chr6:129280133 [GRCh38]
Chr6:129601278 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4817A>G (p.Tyr1606Cys) single nucleotide variant not provided [RCV003487985] Chr6:129366318 [GRCh38]
Chr6:129687463 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9146A>G (p.Gln3049Arg) single nucleotide variant not provided [RCV003487989] Chr6:129514530 [GRCh38]
Chr6:129835675 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.415G>T (p.Val139Leu) single nucleotide variant not provided [RCV003487993] Chr6:129098191 [GRCh38]
Chr6:129419336 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5564A>T (p.Tyr1855Phe) single nucleotide variant not provided [RCV003487995] Chr6:129402325 [GRCh38]
Chr6:129723470 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3727G>A (p.Gly1243Arg) single nucleotide variant not provided [RCV003487996] Chr6:129315647 [GRCh38]
Chr6:129636792 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7935C>T (p.Tyr2645=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003829843] Chr6:129491937 [GRCh38]
Chr6:129813082 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-16C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003573523] Chr6:129316022 [GRCh38]
Chr6:129637167 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-9T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003573527] Chr6:129280052 [GRCh38]
Chr6:129601197 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7451+13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003739512] Chr6:129475414 [GRCh38]
Chr6:129796559 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2889C>T (p.Gly963=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003880640] Chr6:129297717 [GRCh38]
Chr6:129618862 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1153_1154del (p.Thr385fs) microsatellite LAMA2-related muscular dystrophy [RCV003573548] Chr6:129154628..129154629 [GRCh38]
Chr6:129475773..129475774 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3555G>A (p.Trp1185Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573556] Chr6:129314798 [GRCh38]
Chr6:129635943 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2538-13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573583] Chr6:129287834 [GRCh38]
Chr6:129608979 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5562+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003575144] Chr6:129401349 [GRCh38]
Chr6:129722494 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8547+19T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003575148] Chr6:129503299 [GRCh38]
Chr6:129824444 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1596G>A (p.Trp532Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575163] Chr6:129190333 [GRCh38]
Chr6:129511478 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.639+16T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003575167] Chr6:129098431 [GRCh38]
Chr6:129419576 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5268G>A (p.Lys1756=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739526] Chr6:129393078 [GRCh38]
Chr6:129714223 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2796T>C (p.Ser932=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739527] Chr6:129291660 [GRCh38]
Chr6:129612805 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7573-13C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739532] Chr6:129481250 [GRCh38]
Chr6:129802395 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.624C>T (p.Pro208=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739533] Chr6:129098400 [GRCh38]
Chr6:129419545 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6085+20C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003878957] Chr6:129438782 [GRCh38]
Chr6:129759927 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.142T>C (p.Ser48Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739547] Chr6:129049947 [GRCh38]
Chr6:129371092 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8553G>T (p.Lys2851Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003739552] Chr6:129505205 [GRCh38]
Chr6:129826350 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+7G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003575125] Chr6:129512500 [GRCh38]
Chr6:129833645 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1677del (p.Asp559fs) deletion LAMA2-related muscular dystrophy [RCV003577752] Chr6:129192748 [GRCh38]
Chr6:129513893 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5234+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577755] Chr6:129391654 [GRCh38]
Chr6:129712799 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6564T>C (p.Ser2188=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577756] Chr6:129453122 [GRCh38]
Chr6:129774267 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1850C>T (p.Thr617Ile) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577760] Chr6:129250179 [GRCh38]
Chr6:129571324 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7749+18T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003739557] Chr6:129481457 [GRCh38]
Chr6:129802602 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-18C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003739565] Chr6:129192662 [GRCh38]
Chr6:129513807 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2538-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739567] Chr6:129287837 [GRCh38]
Chr6:129608982 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3806del (p.Thr1269fs) deletion LAMA2-related muscular dystrophy [RCV003577769] Chr6:129315832 [GRCh38]
Chr6:129636977 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8325A>C (p.Ala2775=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577770] Chr6:129502739 [GRCh38]
Chr6:129823884 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577773] Chr6:129393036 [GRCh38]
Chr6:129714181 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3556-11A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003739574] Chr6:129315465 [GRCh38]
Chr6:129636610 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6867+17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739575] Chr6:129456511 [GRCh38]
Chr6:129777656 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3735+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003739576] Chr6:129315663 [GRCh38]
Chr6:129636808 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1608+14A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003828769] Chr6:129190359 [GRCh38]
Chr6:129511504 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+14A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577774] Chr6:129445835 [GRCh38]
Chr6:129766980 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577785] Chr6:129492495 [GRCh38]
Chr6:129813640 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-13T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577789] Chr6:129252071 [GRCh38]
Chr6:129573216 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+9T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577797] Chr6:129514604 [GRCh38]
Chr6:129835749 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2451-12_2451-10del microsatellite LAMA2-related muscular dystrophy [RCV003577806] Chr6:129280044..129280046 [GRCh38]
Chr6:129601189..129601191 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8076-19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577812] Chr6:129492296 [GRCh38]
Chr6:129813441 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577815] Chr6:129252075 [GRCh38]
Chr6:129573220 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.28C>T (p.Leu10Phe) single nucleotide variant LAMA2-related muscular dystrophy [RCV003577818] Chr6:128883273 [GRCh38]
Chr6:129204418 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6768_6771dup (p.Ser2258fs) duplication LAMA2-related muscular dystrophy [RCV003577819] Chr6:129456394..129456395 [GRCh38]
Chr6:129777539..129777540 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7301-10del deletion LAMA2-related muscular dystrophy [RCV003577849] Chr6:129473204 [GRCh38]
Chr6:129794349 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7156-8A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577854] Chr6:129465137 [GRCh38]
Chr6:129786282 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577862] Chr6:129403972 [GRCh38]
Chr6:129725117 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8857+10_8857+13del deletion LAMA2-related muscular dystrophy [RCV003577867] Chr6:129507650..129507653 [GRCh38]
Chr6:129828795..129828798 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+17G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003577870] Chr6:129445838 [GRCh38]
Chr6:129766983 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4861-16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003577874] Chr6:129369876 [GRCh38]
Chr6:129691021 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003577878] Chr6:129316023 [GRCh38]
Chr6:129637168 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-17C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003577838] Chr6:129314638 [GRCh38]
Chr6:129635783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3174+19del deletion LAMA2-related muscular dystrophy [RCV003577837] Chr6:129300886 [GRCh38]
Chr6:129622031 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.7156-17G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003739555] Chr6:129465128 [GRCh38]
Chr6:129786273 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-18T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573571] Chr6:129445649 [GRCh38]
Chr6:129766794 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003827111] Chr6:129492499 [GRCh38]
Chr6:129813644 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8076-12A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003877648] Chr6:129492303 [GRCh38]
Chr6:129813448 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003575123] Chr6:129267221 [GRCh38]
Chr6:129588366 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.720T>G (p.Tyr240Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575122] Chr6:129143981 [GRCh38]
Chr6:129465126 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4860+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003877907] Chr6:129366374 [GRCh38]
Chr6:129687519 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1696C>A (p.Gln566Lys) single nucleotide variant not provided [RCV003487984] Chr6:129192767 [GRCh38]
Chr6:129513912 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3693A>G (p.Glu1231=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003880446] Chr6:129315613 [GRCh38]
Chr6:129636758 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+3T>G single nucleotide variant not specified [RCV003489730] Chr6:129460327 [GRCh38]
Chr6:129781472 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2835T>C (p.Gly945=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003877017] Chr6:129291699 [GRCh38]
Chr6:129612844 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7573-2A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003876858] Chr6:129481261 [GRCh38]
Chr6:129802406 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.2208+20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003879541] Chr6:129260842 [GRCh38]
Chr6:129581987 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7451+9T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003877012] Chr6:129475410 [GRCh38]
Chr6:129796555 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8877A>G (p.Gly2959=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003875968] Chr6:129512382 [GRCh38]
Chr6:129833527 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1029A>G (p.Ala343=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573521] Chr6:129154506 [GRCh38]
Chr6:129475651 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5563-18C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003573532] Chr6:129402306 [GRCh38]
Chr6:129723451 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.12:g.129464290_129464296del deletion LAMA2-related muscular dystrophy [RCV003573552] Chr6:129464285..129464291 [GRCh38]
Chr6:129785430..129785436 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6268+19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573526] Chr6:129441017 [GRCh38]
Chr6:129762162 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003576079] Chr6:129291736 [GRCh38]
Chr6:129612881 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2806C>T (p.Gln936Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576081] Chr6:129291670 [GRCh38]
Chr6:129612815 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2323-20G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003576082] Chr6:129270604 [GRCh38]
Chr6:129591749 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8090C>T (p.Ala2697Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576086] Chr6:129492329 [GRCh38]
Chr6:129813474 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3012C>T (p.Phe1004=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576087] Chr6:129297840 [GRCh38]
Chr6:129618985 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.113-4T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003576089] Chr6:129049914 [GRCh38]
Chr6:129371059 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3108C>T (p.Thr1036=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576091] Chr6:129300806 [GRCh38]
Chr6:129621951 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1998T>C (p.His666=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003576092] Chr6:129252197 [GRCh38]
Chr6:129573342 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003576096] Chr6:129514611 [GRCh38]
Chr6:129835756 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3363G>A (p.Glu1121=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003827062] Chr6:129313049 [GRCh38]
Chr6:129634194 [GRCh37]
Chr6:6q22.33		 likely benign
NC_000006.12:g.129059783GA[1] microsatellite LAMA2-related muscular dystrophy [RCV003573546] Chr6:129059782..129059785 [GRCh38]
Chr6:129380927..129380930 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8858-12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573584] Chr6:129512351 [GRCh38]
Chr6:129833496 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8643C>T (p.Val2881=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573573] Chr6:129505295 [GRCh38]
Chr6:129826440 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3219T>C (p.Asn1073=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575146] Chr6:129312905 [GRCh38]
Chr6:129634050 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1206+11C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003575174] Chr6:129154694 [GRCh38]
Chr6:129475839 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-8dup duplication LAMA2-related muscular dystrophy [RCV003576102] Chr6:129192668..129192669 [GRCh38]
Chr6:129513813..129513814 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.113-13C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003877440] Chr6:129049905 [GRCh38]
Chr6:129371050 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4773G>A (p.Gln1591=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575142] Chr6:129366274 [GRCh38]
Chr6:129687419 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5154G>A (p.Gln1718=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575147] Chr6:129391573 [GRCh38]
Chr6:129712718 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7280del (p.Leu2427fs) deletion LAMA2-related muscular dystrophy [RCV003573568] Chr6:129465269 [GRCh38]
Chr6:129786414 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2856+17G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003573520] Chr6:129291737 [GRCh38]
Chr6:129612882 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2538-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003573549] Chr6:129287846 [GRCh38]
Chr6:129608991 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8725T>C (p.Cys2909Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003573554] Chr6:129507510 [GRCh38]
Chr6:129828655 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8160T>C (p.Asp2720=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003575153] Chr6:129492399 [GRCh38]
Chr6:129813544 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1027+8C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003575173] Chr6:129149104 [GRCh38]
Chr6:129470249 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4960-10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003575136] Chr6:129383112 [GRCh38]
Chr6:129704257 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.819+16T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003877754] Chr6:129144096 [GRCh38]
Chr6:129465241 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6549C>T (p.Leu2183=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582796] Chr6:129453107 [GRCh38]
Chr6:129774252 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5197C>T (p.Leu1733=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582795] Chr6:129391616 [GRCh38]
Chr6:129712761 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-18T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003582846] Chr6:129314637 [GRCh38]
Chr6:129635782 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1116C>T (p.Tyr372=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582848] Chr6:129154593 [GRCh38]
Chr6:129475738 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6378C>T (p.Asn2126=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582794] Chr6:129445770 [GRCh38]
Chr6:129766915 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+17_7572+18dup duplication LAMA2-related muscular dystrophy [RCV003582863] Chr6:129478828..129478829 [GRCh38]
Chr6:129799973..129799974 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-20G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003582871] Chr6:129192660 [GRCh38]
Chr6:129513805 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4059-14C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003835375] Chr6:129320524 [GRCh38]
Chr6:129641669 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8547+10C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582877] Chr6:129503290 [GRCh38]
Chr6:129824435 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.810C>T (p.Val270=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581372] Chr6:129144071 [GRCh38]
Chr6:129465216 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4176+13C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582885] Chr6:129320668 [GRCh38]
Chr6:129641813 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8040del (p.Phe2680fs) deletion LAMA2-related muscular dystrophy [RCV003582776] Chr6:129492039 [GRCh38]
Chr6:129813184 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2097-19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582924] Chr6:129260692 [GRCh38]
Chr6:129581837 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6228C>G (p.Val2076=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582934] Chr6:129440958 [GRCh38]
Chr6:129762103 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6654G>A (p.Glu2218=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581551] Chr6:129454235 [GRCh38]
Chr6:129775380 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3556-11A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582941] Chr6:129315465 [GRCh38]
Chr6:129636610 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-16A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582977] Chr6:129514357 [GRCh38]
Chr6:129835502 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582994] Chr6:129250214 [GRCh38]
Chr6:129571359 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6573+14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003583077] Chr6:129453145 [GRCh38]
Chr6:129774290 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4523+19C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003850485] Chr6:129349403 [GRCh38]
Chr6:129670548 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1467+19T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003583023] Chr6:129177885 [GRCh38]
Chr6:129499030 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-13C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003583043] Chr6:129512350 [GRCh38]
Chr6:129833495 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7440-5T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003583003] Chr6:129475385 [GRCh38]
Chr6:129796530 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7521T>C (p.Asn2507=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583065] Chr6:129478762 [GRCh38]
Chr6:129799907 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-13del deletion LAMA2-related muscular dystrophy [RCV003583081] Chr6:129143884 [GRCh38]
Chr6:129465029 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.3412-17C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003832041] Chr6:129314638 [GRCh38]
Chr6:129635783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+16A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003833936] Chr6:129280163 [GRCh38]
Chr6:129601308 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4436+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003583036] Chr6:129342474 [GRCh38]
Chr6:129663619 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3686A>C (p.His1229Pro) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583096] Chr6:129315606 [GRCh38]
Chr6:129636751 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6707+11del deletion LAMA2-related muscular dystrophy [RCV003583087] Chr6:129454298 [GRCh38]
Chr6:129775443 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3747T>G (p.Tyr1249Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583095] Chr6:129315773 [GRCh38]
Chr6:129636918 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6333T>C (p.Asp2111=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583089] Chr6:129445725 [GRCh38]
Chr6:129766870 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+11A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003835028] Chr6:129492494 [GRCh38]
Chr6:129813639 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3903G>A (p.Arg1301=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583127] Chr6:129315929 [GRCh38]
Chr6:129637074 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4176+18A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003583128] Chr6:129320673 [GRCh38]
Chr6:129641818 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6993-19G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003583141] Chr6:129464271 [GRCh38]
Chr6:129785416 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7439+15A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582043] Chr6:129473367 [GRCh38]
Chr6:129794512 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-8G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582055] Chr6:129393037 [GRCh38]
Chr6:129714182 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7704A>G (p.Gly2568=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582286] Chr6:129481394 [GRCh38]
Chr6:129802539 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+17G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582287] Chr6:129147065 [GRCh38]
Chr6:129468210 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3621C>A (p.Thr1207=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582288] Chr6:129315541 [GRCh38]
Chr6:129636686 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8613C>T (p.Ile2871=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582290] Chr6:129505265 [GRCh38]
Chr6:129826410 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.636A>T (p.Gly212=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582312] Chr6:129098412 [GRCh38]
Chr6:129419557 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+18_7572+21dup duplication LAMA2-related muscular dystrophy [RCV003582302] Chr6:129478829..129478830 [GRCh38]
Chr6:129799974..129799975 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4602A>G (p.Ser1534=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003810834] Chr6:129353242 [GRCh38]
Chr6:129674387 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4127T>C (p.Leu1376Ser) single nucleotide variant LAMA2-related muscular dystrophy [RCV003851064] Chr6:129320606 [GRCh38]
Chr6:129641751 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2538-12T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582664] Chr6:129287835 [GRCh38]
Chr6:129608980 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1953T>C (p.Asn651=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003852108] Chr6:129252152 [GRCh38]
Chr6:129573297 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.640-12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582672] Chr6:129143889 [GRCh38]
Chr6:129465034 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1467+20A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003581315] Chr6:129177886 [GRCh38]
Chr6:129499031 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3323G>A (p.Cys1108Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581321] Chr6:129313009 [GRCh38]
Chr6:129634154 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6275-19C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582677] Chr6:129445648 [GRCh38]
Chr6:129766793 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-16_8989-14dup duplication LAMA2-related muscular dystrophy [RCV003582684] Chr6:129514355..129514356 [GRCh38]
Chr6:129835500..129835501 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4551A>C (p.Pro1517=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581552] Chr6:129353191 [GRCh38]
Chr6:129674336 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1032del (p.Ala343_Cys344insTer) deletion LAMA2-related muscular dystrophy [RCV003582867] Chr6:129154509 [GRCh38]
Chr6:129475654 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1566G>T (p.Gly522=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582917] Chr6:129190303 [GRCh38]
Chr6:129511448 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1809A>C (p.Thr603=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582923] Chr6:129250138 [GRCh38]
Chr6:129571283 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7005A>G (p.Glu2335=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582962] Chr6:129464302 [GRCh38]
Chr6:129785447 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8766G>A (p.Leu2922=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003740416] Chr6:129507551 [GRCh38]
Chr6:129828696 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1419dup (p.Leu474fs) duplication LAMA2-related muscular dystrophy [RCV003583021] Chr6:129177815..129177816 [GRCh38]
Chr6:129498960..129498961 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3556-5T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003583034] Chr6:129315471 [GRCh38]
Chr6:129636616 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3552G>A (p.Thr1184=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583056] Chr6:129314795 [GRCh38]
Chr6:129635940 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+11A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003583076] Chr6:129403970 [GRCh38]
Chr6:129725115 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4718-17T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003854403] Chr6:129366202 [GRCh38]
Chr6:129687347 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9211+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003811297] Chr6:129514603 [GRCh38]
Chr6:129835748 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.780C>T (p.His260=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583108] Chr6:129144041 [GRCh38]
Chr6:129465186 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003583130] Chr6:129190187 [GRCh38]
Chr6:129511332 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2652C>G (p.Gly884=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583138] Chr6:129287961 [GRCh38]
Chr6:129609106 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8704-13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003581998] Chr6:129507476 [GRCh38]
Chr6:129828621 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003838582] Chr6:129445840 [GRCh38]
Chr6:129766985 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-11_6708-4del deletion LAMA2-related muscular dystrophy [RCV003835590] Chr6:129456323..129456330 [GRCh38]
Chr6:129777468..129777475 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7662C>T (p.Phe2554=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003833211] Chr6:129481352 [GRCh38]
Chr6:129802497 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3807A>G (p.Thr1269=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003581337] Chr6:129315833 [GRCh38]
Chr6:129636978 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7898+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582040] Chr6:129486642 [GRCh38]
Chr6:129807787 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1632T>A (p.Tyr544Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582857] Chr6:129192703 [GRCh38]
Chr6:129513848 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3552G>C (p.Thr1184=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003851774] Chr6:129314795 [GRCh38]
Chr6:129635940 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-13_1885-11del deletion LAMA2-related muscular dystrophy [RCV003582291] Chr6:129252066..129252068 [GRCh38]
Chr6:129573211..129573213 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8076-19A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003582292] Chr6:129492296 [GRCh38]
Chr6:129813441 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.588G>A (p.Glu196=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582870] Chr6:129098364 [GRCh38]
Chr6:129419509 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003582896] Chr6:129445832 [GRCh38]
Chr6:129766977 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6723A>G (p.Gly2241=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003849815] Chr6:129456350 [GRCh38]
Chr6:129777495 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003582910] Chr6:129291721 [GRCh38]
Chr6:129612866 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.3552G>T (p.Thr1184=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003840192] Chr6:129314795 [GRCh38]
Chr6:129635940 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+20C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003836789] Chr6:129270771 [GRCh38]
Chr6:129591916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6085+15C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003582282] Chr6:129438777 [GRCh38]
Chr6:129759922 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.102T>C (p.His34=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582293] Chr6:128883347 [GRCh38]
Chr6:129204492 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8507C>A (p.Thr2836Asn) single nucleotide variant LAMA2-related muscular dystrophy [RCV003851785] Chr6:129503240 [GRCh38]
Chr6:129824385 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8922T>C (p.Thr2974=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582311] Chr6:129512427 [GRCh38]
Chr6:129833572 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1732del (p.Leu578fs) deletion LAMA2-related muscular dystrophy [RCV003856531] Chr6:129192801 [GRCh38]
Chr6:129513946 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.4176+17T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003582321] Chr6:129320672 [GRCh38]
Chr6:129641817 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3516T>G (p.Thr1172=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003817471] Chr6:129314759 [GRCh38]
Chr6:129635904 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+15C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003854825] Chr6:129280162 [GRCh38]
Chr6:129601307 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6154C>T (p.Leu2052=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003839234] Chr6:129440884 [GRCh38]
Chr6:129762029 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6711T>C (p.Thr2237=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003839564] Chr6:129456338 [GRCh38]
Chr6:129777483 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1467+14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003582675] Chr6:129177880 [GRCh38]
Chr6:129499025 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+19C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003850188] Chr6:129492502 [GRCh38]
Chr6:129813647 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-2A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003582800] Chr6:129401222 [GRCh38]
Chr6:129722367 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8547+7G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003582811] Chr6:129503287 [GRCh38]
Chr6:129824432 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9141dup (p.Ala3048fs) duplication LAMA2-related muscular dystrophy [RCV003582835] Chr6:129514523..129514524 [GRCh38]
Chr6:129835668..129835669 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8073del (p.Val2692fs) deletion LAMA2-related muscular dystrophy [RCV003581363] Chr6:129492075 [GRCh38]
Chr6:129813220 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6993-18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582897] Chr6:129464272 [GRCh38]
Chr6:129785417 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6268+18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003835968] Chr6:129441016 [GRCh38]
Chr6:129762161 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-12dup duplication LAMA2-related muscular dystrophy [RCV003582921] Chr6:129516176..129516177 [GRCh38]
Chr6:129837321..129837322 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4706G>A (p.Trp1569Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582922] Chr6:129353346 [GRCh38]
Chr6:129674491 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8010A>G (p.Gln2670=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003817210] Chr6:129492012 [GRCh38]
Chr6:129813157 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6268+12T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003583011] Chr6:129441010 [GRCh38]
Chr6:129762155 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+18C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582980] Chr6:129460342 [GRCh38]
Chr6:129781487 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.639+19C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003583084] Chr6:129098434 [GRCh38]
Chr6:129419579 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8358-17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003838963] Chr6:129503074 [GRCh38]
Chr6:129824219 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4785C>T (p.Ser1595=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582854] Chr6:129366286 [GRCh38]
Chr6:129687431 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5116C>A (p.Arg1706=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582344] Chr6:129391535 [GRCh38]
Chr6:129712680 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5445+14G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003838555] Chr6:129393269 [GRCh38]
Chr6:129714414 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8172A>G (p.Pro2724=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003816526] Chr6:129492411 [GRCh38]
Chr6:129813556 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2742C>T (p.Asn914=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003814184] Chr6:129288051 [GRCh38]
Chr6:129609196 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582959] Chr6:129383249 [GRCh38]
Chr6:129704394 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7689T>C (p.Ile2563=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582970] Chr6:129481379 [GRCh38]
Chr6:129802524 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6868-15T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003583013] Chr6:129460185 [GRCh38]
Chr6:129781330 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4149C>T (p.Pro1383=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003850483] Chr6:129320628 [GRCh38]
Chr6:129641773 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6357T>G (p.Leu2119=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583099] Chr6:129445749 [GRCh38]
Chr6:129766894 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3372A>G (p.Lys1124=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003583114] Chr6:129313058 [GRCh38]
Chr6:129634203 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1746C>T (p.Tyr582=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003849976] Chr6:129192817 [GRCh38]
Chr6:129513962 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2208+18T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003583120] Chr6:129260840 [GRCh38]
Chr6:129581985 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5667G>A (p.Lys1889=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003810927] Chr6:129402428 [GRCh38]
Chr6:129723573 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2820A>G (p.Arg940=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582011] Chr6:129291684 [GRCh38]
Chr6:129612829 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+14T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003581334] Chr6:129453145 [GRCh38]
Chr6:129774290 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+15G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003581362] Chr6:129403974 [GRCh38]
Chr6:129725119 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4311+12A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003582827] Chr6:129328424 [GRCh38]
Chr6:129649569 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3627C>G (p.Gly1209=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582786] Chr6:129315547 [GRCh38]
Chr6:129636692 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3090C>T (p.Cys1030=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582299] Chr6:129300788 [GRCh38]
Chr6:129621933 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3393T>C (p.Thr1131=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003582804] Chr6:129313079 [GRCh38]
Chr6:129634224 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5715T>C (p.Ala1905=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003855473] Chr6:129402476 [GRCh38]
Chr6:129723621 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5614G>T (p.Asp1872Tyr) single nucleotide variant LAMA2-related muscular dystrophy [RCV003836258] Chr6:129402375 [GRCh38]
Chr6:129723520 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7452-13G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003834187] Chr6:129478680 [GRCh38]
Chr6:129799825 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003582770] Chr6:129370010 [GRCh38]
Chr6:129691155 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7740G>A (p.Gln2580=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735478] Chr6:129481430 [GRCh38]
Chr6:129802575 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-5T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735480] Chr6:129456330 [GRCh38]
Chr6:129777475 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735482] Chr6:129516175 [GRCh38]
Chr6:129837320 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-17G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735483] Chr6:129393028 [GRCh38]
Chr6:129714173 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3234A>G (p.Gln1078=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735485] Chr6:129312920 [GRCh38]
Chr6:129634065 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2209-19A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735489] Chr6:129267087 [GRCh38]
Chr6:129588232 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+12A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735449] Chr6:129370002 [GRCh38]
Chr6:129691147 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2187G>T (p.Gly729=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735524] Chr6:129260801 [GRCh38]
Chr6:129581946 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4914C>T (p.Gly1638=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735525] Chr6:129369945 [GRCh38]
Chr6:129691090 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8075+14C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735526] Chr6:129492091 [GRCh38]
Chr6:129813236 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4380G>A (p.Lys1460=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735528] Chr6:129342411 [GRCh38]
Chr6:129663556 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7002G>A (p.Val2334=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735529] Chr6:129464299 [GRCh38]
Chr6:129785444 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1719G>A (p.Glu573=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735530] Chr6:129192790 [GRCh38]
Chr6:129513935 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3084G>T (p.Gly1028=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003819083] Chr6:129300782 [GRCh38]
Chr6:129621927 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.12C>T (p.Ala4=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735559] Chr6:128883257 [GRCh38]
Chr6:129204402 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5577C>T (p.Ile1859=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003842164] Chr6:129402338 [GRCh38]
Chr6:129723483 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8772A>G (p.Gln2924=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003843405] Chr6:129507557 [GRCh38]
Chr6:129828702 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5538A>G (p.Ala1846=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003821546] Chr6:129401316 [GRCh38]
Chr6:129722461 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5072-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003864363] Chr6:129391481 [GRCh38]
Chr6:129712626 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.910-13T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003736289] Chr6:129148966 [GRCh38]
Chr6:129470111 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7750-18A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003821179] Chr6:129486456 [GRCh38]
Chr6:129807601 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2994C>T (p.Arg998=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003845448] Chr6:129297822 [GRCh38]
Chr6:129618967 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.910-15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735067] Chr6:129148964 [GRCh38]
Chr6:129470109 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7155+16A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735069] Chr6:129464468 [GRCh38]
Chr6:129785613 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-10A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735070] Chr6:129456325 [GRCh38]
Chr6:129777470 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735073] Chr6:129445841 [GRCh38]
Chr6:129766986 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6397T>C (p.Leu2133=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735076] Chr6:129445789 [GRCh38]
Chr6:129766934 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5955A>G (p.Ala1985=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735124] Chr6:129427841 [GRCh38]
Chr6:129748986 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+10T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003854137] Chr6:129280157 [GRCh38]
Chr6:129601302 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003736130] Chr6:129252071 [GRCh38]
Chr6:129573216 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003736251] Chr6:129478829 [GRCh38]
Chr6:129799974 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+15_6429+19dup duplication LAMA2-related muscular dystrophy [RCV003844567] Chr6:129445835..129445836 [GRCh38]
Chr6:129766980..129766981 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6867+19T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003841138] Chr6:129456513 [GRCh38]
Chr6:129777658 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3975C>T (p.Thr1325=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735128] Chr6:129316088 [GRCh38]
Chr6:129637233 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-11C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735131] Chr6:129250101 [GRCh38]
Chr6:129571246 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2838G>A (p.Gln946=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735133] Chr6:129291702 [GRCh38]
Chr6:129612847 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7530T>C (p.Ser2510=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735134] Chr6:129478771 [GRCh38]
Chr6:129799916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.396+9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735136] Chr6:129059905 [GRCh38]
Chr6:129381050 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1770T>C (p.Tyr590=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735192] Chr6:129192841 [GRCh38]
Chr6:129513986 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4311+10T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735203] Chr6:129328422 [GRCh38]
Chr6:129649567 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9116del (p.Leu3039fs) deletion LAMA2-related muscular dystrophy [RCV003735204] Chr6:129514500 [GRCh38]
Chr6:129835645 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7512T>C (p.Thr2504=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735205] Chr6:129478753 [GRCh38]
Chr6:129799898 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4020T>C (p.Leu1340=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735207] Chr6:129316133 [GRCh38]
Chr6:129637278 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-4C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735209] Chr6:129297681 [GRCh38]
Chr6:129618826 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2370T>A (p.Pro790=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735211] Chr6:129270671 [GRCh38]
Chr6:129591816 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6268+20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735212] Chr6:129441018 [GRCh38]
Chr6:129762163 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7698A>G (p.Gly2566=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735214] Chr6:129481388 [GRCh38]
Chr6:129802533 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2628T>C (p.Pro876=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735218] Chr6:129287937 [GRCh38]
Chr6:129609082 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5337C>T (p.Tyr1779=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735222] Chr6:129393147 [GRCh38]
Chr6:129714292 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+8_7749+14del deletion LAMA2-related muscular dystrophy [RCV003735252] Chr6:129481444..129481450 [GRCh38]
Chr6:129802589..129802595 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8754C>T (p.Ala2918=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735254] Chr6:129507539 [GRCh38]
Chr6:129828684 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8574A>G (p.Glu2858=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735276] Chr6:129505226 [GRCh38]
Chr6:129826371 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-16_5235-11dup duplication LAMA2-related muscular dystrophy [RCV003735277] Chr6:129393025..129393026 [GRCh38]
Chr6:129714170..129714171 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4479C>T (p.Arg1493=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735278] Chr6:129349340 [GRCh38]
Chr6:129670485 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.832del (p.Val278fs) deletion LAMA2-related muscular dystrophy [RCV003735292] Chr6:129146970 [GRCh38]
Chr6:129468115 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8245-5T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735293] Chr6:129502654 [GRCh38]
Chr6:129823799 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+8C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735294] Chr6:129313105 [GRCh38]
Chr6:129634250 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3837G>A (p.Gly1279=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735297] Chr6:129315863 [GRCh38]
Chr6:129637008 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4179A>T (p.Ala1393=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735298] Chr6:129328280 [GRCh38]
Chr6:129649425 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735300] Chr6:129316018 [GRCh38]
Chr6:129637163 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5072-18T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735301] Chr6:129391473 [GRCh38]
Chr6:129712618 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5406C>A (p.Arg1802=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735322] Chr6:129393216 [GRCh38]
Chr6:129714361 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7573-2A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735324] Chr6:129481261 [GRCh38]
Chr6:129802406 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6474C>T (p.Tyr2158=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735462] Chr6:129453032 [GRCh38]
Chr6:129774177 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.442C>A (p.Arg148=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735464] Chr6:129098218 [GRCh38]
Chr6:129419363 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735465] Chr6:129288078 [GRCh38]
Chr6:129609223 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2750-5T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735467] Chr6:129291609 [GRCh38]
Chr6:129612754 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+17C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735468] Chr6:129270768 [GRCh38]
Chr6:129591913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2322+12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735469] Chr6:129267231 [GRCh38]
Chr6:129588376 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+7_7572+10dup duplication LAMA2-related muscular dystrophy [RCV003735471] Chr6:129478817..129478818 [GRCh38]
Chr6:129799962..129799963 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+1G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735472] Chr6:129192854 [GRCh38]
Chr6:129513999 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.8357+15G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735473] Chr6:129502786 [GRCh38]
Chr6:129823931 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735474] Chr6:129315761 [GRCh38]
Chr6:129636906 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2450+9C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735475] Chr6:129270760 [GRCh38]
Chr6:129591905 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003872469] Chr6:129252069 [GRCh38]
Chr6:129573214 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4222C>T (p.Arg1408Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737373] Chr6:129328323 [GRCh38]
Chr6:129649468 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.910-6G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003738491] Chr6:129148973 [GRCh38]
Chr6:129470118 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9270C>T (p.Ser3090=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738494] Chr6:129516248 [GRCh38]
Chr6:129837393 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1956A>G (p.Val652=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738496] Chr6:129252155 [GRCh38]
Chr6:129573300 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4122T>C (p.Ala1374=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738499] Chr6:129320601 [GRCh38]
Chr6:129641746 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8703+19_8703+21del microsatellite LAMA2-related muscular dystrophy [RCV003738500] Chr6:129505369..129505371 [GRCh38]
Chr6:129826514..129826516 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6288T>C (p.Asp2096=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738508] Chr6:129445680 [GRCh38]
Chr6:129766825 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+12A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738509] Chr6:129291732 [GRCh38]
Chr6:129612877 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1681T>C (p.Leu561=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738510] Chr6:129192752 [GRCh38]
Chr6:129513897 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4281C>T (p.Ser1427=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735057] Chr6:129328382 [GRCh38]
Chr6:129649527 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+11C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735058] Chr6:129313108 [GRCh38]
Chr6:129634253 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735059] Chr6:129370005 [GRCh38]
Chr6:129691150 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.789A>G (p.Pro263=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735062] Chr6:129144050 [GRCh38]
Chr6:129465195 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+15G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735105] Chr6:129460339 [GRCh38]
Chr6:129781484 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+7G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003870610] Chr6:129512500 [GRCh38]
Chr6:129833645 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7843C>G (p.Pro2615Ala) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735107] Chr6:129486567 [GRCh38]
Chr6:129807712 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2448T>C (p.Asn816=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735109] Chr6:129270749 [GRCh38]
Chr6:129591894 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4740C>T (p.Gly1580=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735110] Chr6:129366241 [GRCh38]
Chr6:129687386 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2537+13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735114] Chr6:129280160 [GRCh38]
Chr6:129601305 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1695G>A (p.Gln565=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735115] Chr6:129192766 [GRCh38]
Chr6:129513911 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2208+19A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735116] Chr6:129260841 [GRCh38]
Chr6:129581986 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8889T>C (p.Leu2963=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735118] Chr6:129512394 [GRCh38]
Chr6:129833539 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3735+14C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735120] Chr6:129315669 [GRCh38]
Chr6:129636814 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6992+19T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735122] Chr6:129460343 [GRCh38]
Chr6:129781488 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4929C>A (p.Leu1643=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735123] Chr6:129369960 [GRCh38]
Chr6:129691105 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735106] Chr6:129250096 [GRCh38]
Chr6:129571241 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4218T>G (p.Gly1406=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735140] Chr6:129328319 [GRCh38]
Chr6:129649464 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1356C>T (p.Ser452=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735145] Chr6:129177755 [GRCh38]
Chr6:129498900 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8052dup (p.Trp2685fs) duplication LAMA2-related muscular dystrophy [RCV003735146] Chr6:129492053..129492054 [GRCh38]
Chr6:129813198..129813199 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6233_6236dup (p.Ala2081fs) duplication LAMA2-related muscular dystrophy [RCV003735148] Chr6:129440962..129440963 [GRCh38]
Chr6:129762107..129762108 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7155+13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735149] Chr6:129464465 [GRCh38]
Chr6:129785610 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8382A>G (p.Arg2794=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735202] Chr6:129503115 [GRCh38]
Chr6:129824260 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7301-15C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735224] Chr6:129473199 [GRCh38]
Chr6:129794344 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6500dup (p.Tyr2167Ter) duplication LAMA2-related muscular dystrophy [RCV003735229] Chr6:129453057..129453058 [GRCh38]
Chr6:129774202..129774203 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6127C>T (p.Gln2043Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003818357] Chr6:129440857 [GRCh38]
Chr6:129762002 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2750-19G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735230] Chr6:129291595 [GRCh38]
Chr6:129612740 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6660A>C (p.Pro2220=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735232] Chr6:129454241 [GRCh38]
Chr6:129775386 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4312-4A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735236] Chr6:129342339 [GRCh38]
Chr6:129663484 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.763T>C (p.Leu255=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735241] Chr6:129144024 [GRCh38]
Chr6:129465169 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+2T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735242] Chr6:129291722 [GRCh38]
Chr6:129612867 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4147_4148insGAAGGGGAGGAGCCAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAAATGTGATTGTC (p.Pro1383delinsArgArgGlyGlyAlaLysMetAlaGluTer) insertion LAMA2-related muscular dystrophy [RCV003735284] Chr6:129320610..129320611 [GRCh38]
Chr6:129641755..129641756 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.732A>G (p.Arg244=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735285] Chr6:129143993 [GRCh38]
Chr6:129465138 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7602T>A (p.Pro2534=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735287] Chr6:129481292 [GRCh38]
Chr6:129802437 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-15T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735288] Chr6:129192665 [GRCh38]
Chr6:129513810 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.168A>T (p.Ala56=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735289] Chr6:129049973 [GRCh38]
Chr6:129371118 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6960A>G (p.Glu2320=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735311] Chr6:129460292 [GRCh38]
Chr6:129781437 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7440-16C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735317] Chr6:129475374 [GRCh38]
Chr6:129796519 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2450+9C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735318] Chr6:129270760 [GRCh38]
Chr6:129591905 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5046T>C (p.Ile1682=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735325] Chr6:129383208 [GRCh38]
Chr6:129704353 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.561del (p.Pro188fs) deletion LAMA2-related muscular dystrophy [RCV003735326] Chr6:129098335 [GRCh38]
Chr6:129419480 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5072-4G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003818237] Chr6:129391487 [GRCh38]
Chr6:129712632 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8989-7T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735384] Chr6:129514366 [GRCh38]
Chr6:129835511 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3492C>T (p.Ser1164=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735385] Chr6:129314735 [GRCh38]
Chr6:129635880 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6274+8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735386] Chr6:129443076 [GRCh38]
Chr6:129764221 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.909+2T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735389] Chr6:129147050 [GRCh38]
Chr6:129468195 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1608+17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735390] Chr6:129190362 [GRCh38]
Chr6:129511507 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2097-20T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735393] Chr6:129260691 [GRCh38]
Chr6:129581836 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7155+17T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735394] Chr6:129464469 [GRCh38]
Chr6:129785614 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2208+7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735395] Chr6:129260829 [GRCh38]
Chr6:129581974 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3038-12A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735491] Chr6:129300724 [GRCh38]
Chr6:129621869 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5445+14dup duplication LAMA2-related muscular dystrophy [RCV003735493] Chr6:129393265..129393266 [GRCh38]
Chr6:129714410..129714411 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2749+13C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735494] Chr6:129288071 [GRCh38]
Chr6:129609216 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-7C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735495] Chr6:129456328 [GRCh38]
Chr6:129777473 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7155+17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735448] Chr6:129464469 [GRCh38]
Chr6:129785614 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6274+11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735445] Chr6:129443079 [GRCh38]
Chr6:129764224 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+21del deletion LAMA2-related muscular dystrophy [RCV003735444] Chr6:129370010 [GRCh38]
Chr6:129691155 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5988T>C (p.Asn1996=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735443] Chr6:129438665 [GRCh38]
Chr6:129759810 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3936A>G (p.Lys1312=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735442] Chr6:129316049 [GRCh38]
Chr6:129637194 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7629A>G (p.Pro2543=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735510] Chr6:129481319 [GRCh38]
Chr6:129802464 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5730C>T (p.Ile1910=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735516] Chr6:129403824 [GRCh38]
Chr6:129724969 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8704-11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735519] Chr6:129507478 [GRCh38]
Chr6:129828623 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3556-13T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735520] Chr6:129315463 [GRCh38]
Chr6:129636608 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6513T>C (p.Val2171=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735521] Chr6:129453071 [GRCh38]
Chr6:129774216 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3411+19C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735534] Chr6:129313116 [GRCh38]
Chr6:129634261 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3175-13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735533] Chr6:129312848 [GRCh38]
Chr6:129633993 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-6del deletion LAMA2-related muscular dystrophy [RCV003735532] Chr6:129252074 [GRCh38]
Chr6:129573219 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2100G>A (p.Leu700=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735583] Chr6:129260714 [GRCh38]
Chr6:129581859 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.99A>T (p.Ala33=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737115] Chr6:128883344 [GRCh38]
Chr6:129204489 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6240T>C (p.Asn2080=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003871124] Chr6:129440970 [GRCh38]
Chr6:129762115 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6414G>A (p.Arg2138=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737314] Chr6:129445806 [GRCh38]
Chr6:129766951 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7209T>C (p.Asp2403=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737315] Chr6:129465198 [GRCh38]
Chr6:129786343 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737316] Chr6:129190185 [GRCh38]
Chr6:129511330 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2097-11C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737317] Chr6:129260700 [GRCh38]
Chr6:129581845 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6086-20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737319] Chr6:129440796 [GRCh38]
Chr6:129761941 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2685C>A (p.Gly895=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735949] Chr6:129287994 [GRCh38]
Chr6:129609139 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1468-17C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003736025] Chr6:129190188 [GRCh38]
Chr6:129511333 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8592T>C (p.Asp2864=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003736027] Chr6:129505244 [GRCh38]
Chr6:129826389 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9226T>G (p.Phe3076Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003867568] Chr6:129516204 [GRCh38]
Chr6:129837349 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4869G>C (p.Leu1623=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003854216] Chr6:129369900 [GRCh38]
Chr6:129691045 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6574-8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003738489] Chr6:129454147 [GRCh38]
Chr6:129775292 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4248C>T (p.Thr1416=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738490] Chr6:129328349 [GRCh38]
Chr6:129649494 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8716A>G (p.Ile2906Val) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738504] Chr6:129507501 [GRCh38]
Chr6:129828646 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9334A>C (p.Arg3112=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003848220] Chr6:129516312 [GRCh38]
Chr6:129837457 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4695A>G (p.Ala1565=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003736303] Chr6:129353335 [GRCh38]
Chr6:129674480 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6708-12G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003736308] Chr6:129456323 [GRCh38]
Chr6:129777468 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+7C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003736333] Chr6:129453138 [GRCh38]
Chr6:129774283 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q22.31-22.33(chr6:124515654-130227224)x1 copy number loss not specified [RCV003986658] Chr6:124515654..130227224 [GRCh37]
Chr6:6q22.31-22.33		 uncertain significance
NM_000426.4(LAMA2):c.555C>T (p.Arg185=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737967] Chr6:129098331 [GRCh38]
Chr6:129419476 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3 copy number gain not specified [RCV003986625] Chr6:110546061..131896074 [GRCh37]
Chr6:6q21-23.2		 likely pathogenic
NM_000426.4(LAMA2):c.3038-18C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003737938] Chr6:129300718 [GRCh38]
Chr6:129621863 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-4T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737116] Chr6:129192676 [GRCh38]
Chr6:129513821 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+12A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003870377] Chr6:129288070 [GRCh38]
Chr6:129609215 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003866994] Chr6:129391667 [GRCh38]
Chr6:129712812 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.969A>T (p.Pro323=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003867145] Chr6:129149038 [GRCh38]
Chr6:129470183 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6707+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737138] Chr6:129454301 [GRCh38]
Chr6:129775446 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8100G>A (p.Val2700=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003843244] Chr6:129492339 [GRCh38]
Chr6:129813484 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003865399] Chr6:129252073 [GRCh38]
Chr6:129573218 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7452-12A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735093] Chr6:129478681 [GRCh38]
Chr6:129799826 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6943T>C (p.Leu2315=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735097] Chr6:129460275 [GRCh38]
Chr6:129781420 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+12_7749+13insGA insertion LAMA2-related muscular dystrophy [RCV003735099] Chr6:129481451..129481452 [GRCh38]
Chr6:129802596..129802597 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7156-10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735104] Chr6:129465135 [GRCh38]
Chr6:129786280 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8148T>C (p.Arg2716=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737324] Chr6:129492387 [GRCh38]
Chr6:129813532 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+13G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003737325] Chr6:129391666 [GRCh38]
Chr6:129712811 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4809T>A (p.Pro1603=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737328] Chr6:129366310 [GRCh38]
Chr6:129687455 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003737329] Chr6:129492502 [GRCh38]
Chr6:129813647 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2097-15T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003737332] Chr6:129260696 [GRCh38]
Chr6:129581841 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.240C>T (p.Asn80=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737334] Chr6:129050045 [GRCh38]
Chr6:129371190 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-20del deletion LAMA2-related muscular dystrophy [RCV003737336] Chr6:129516170 [GRCh38]
Chr6:129837315 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7572+17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003737337] Chr6:129478830 [GRCh38]
Chr6:129799975 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8236C>T (p.Leu2746=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003868234] Chr6:129492475 [GRCh38]
Chr6:129813620 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4035T>C (p.Tyr1345=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003868238] Chr6:129316148 [GRCh38]
Chr6:129637293 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.177A>G (p.Gly59=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003869919] Chr6:129049982 [GRCh38]
Chr6:129371127 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.820-20C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003818331] Chr6:129146939 [GRCh38]
Chr6:129468084 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1626C>A (p.Gly542=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003863389] Chr6:129192697 [GRCh38]
Chr6:129513842 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6972C>T (p.Asp2324=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735151] Chr6:129460304 [GRCh38]
Chr6:129781449 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8547+9C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735153] Chr6:129503289 [GRCh38]
Chr6:129824434 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-5C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735154] Chr6:129098168 [GRCh38]
Chr6:129419313 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5877T>C (p.Pro1959=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735158] Chr6:129427763 [GRCh38]
Chr6:129748908 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8274T>C (p.Ala2758=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735161] Chr6:129502688 [GRCh38]
Chr6:129823833 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9212-4dup duplication LAMA2-related muscular dystrophy [RCV003735162] Chr6:129516181..129516182 [GRCh38]
Chr6:129837326..129837327 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.2604T>C (p.Asn868=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735164] Chr6:129287913 [GRCh38]
Chr6:129609058 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+1G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735165] Chr6:129453132 [GRCh38]
Chr6:129774277 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4334_4352dup (p.Cys1451delinsTrpTer) duplication LAMA2-related muscular dystrophy [RCV003735166] Chr6:129342362..129342363 [GRCh38]
Chr6:129663507..129663508 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7750-14A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735169] Chr6:129486460 [GRCh38]
Chr6:129807605 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8595G>T (p.Gly2865=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735171] Chr6:129505247 [GRCh38]
Chr6:129826392 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4779C>T (p.Val1593=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735177] Chr6:129366280 [GRCh38]
Chr6:129687425 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4152G>A (p.Leu1384=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735178] Chr6:129320631 [GRCh38]
Chr6:129641776 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3736-8T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735196] Chr6:129315754 [GRCh38]
Chr6:129636899 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+12A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735197] Chr6:129252307 [GRCh38]
Chr6:129573452 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2559A>G (p.Gly853=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737340] Chr6:129287868 [GRCh38]
Chr6:129609013 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1028-5T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003737344] Chr6:129154500 [GRCh38]
Chr6:129475645 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5556C>T (p.Ile1852=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737345] Chr6:129401334 [GRCh38]
Chr6:129722479 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1206+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003737346] Chr6:129154693 [GRCh38]
Chr6:129475838 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1290G>A (p.Glu430=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737347] Chr6:129165659 [GRCh38]
Chr6:129486804 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2136T>C (p.Pro712=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737349] Chr6:129260750 [GRCh38]
Chr6:129581895 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+20C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003737372] Chr6:129291740 [GRCh38]
Chr6:129612885 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3924+17_3924+20del deletion LAMA2-related muscular dystrophy [RCV003737371] Chr6:129315964..129315967 [GRCh38]
Chr6:129637109..129637112 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6429+14A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737369] Chr6:129445835 [GRCh38]
Chr6:129766980 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5862A>G (p.Lys1954=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735246] Chr6:129403956 [GRCh38]
Chr6:129725101 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3294G>A (p.Trp1098Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735342] Chr6:129312980 [GRCh38]
Chr6:129634125 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8361C>A (p.Leu2787=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735343] Chr6:129503094 [GRCh38]
Chr6:129824239 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.480T>C (p.Asp160=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735345] Chr6:129098256 [GRCh38]
Chr6:129419401 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7899-20T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735349] Chr6:129491881 [GRCh38]
Chr6:129813026 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1306+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735351] Chr6:129165685 [GRCh38]
Chr6:129486830 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7928_7929del (p.Arg2643fs) deletion LAMA2-related muscular dystrophy [RCV003735352] Chr6:129491929..129491930 [GRCh38]
Chr6:129813074..129813075 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.7568del (p.Leu2523fs) deletion LAMA2-related muscular dystrophy [RCV003735360] Chr6:129478809 [GRCh38]
Chr6:129799954 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2856+14G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735361] Chr6:129291734 [GRCh38]
Chr6:129612879 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6993-16A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735362] Chr6:129464274 [GRCh38]
Chr6:129785419 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4436+16A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735363] Chr6:129342483 [GRCh38]
Chr6:129663628 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.120C>T (p.Phe40=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735367] Chr6:129049925 [GRCh38]
Chr6:129371070 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2208+15A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735368] Chr6:129260837 [GRCh38]
Chr6:129581982 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8704-12C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735369] Chr6:129507477 [GRCh38]
Chr6:129828622 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8400C>T (p.Gly2800=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735370] Chr6:129503133 [GRCh38]
Chr6:129824278 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2856+19C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735373] Chr6:129291739 [GRCh38]
Chr6:129612884 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4986G>A (p.Glu1662=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735374] Chr6:129383148 [GRCh38]
Chr6:129704293 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4756T>C (p.Leu1586=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735375] Chr6:129366257 [GRCh38]
Chr6:129687402 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4524-18G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003737412] Chr6:129353146 [GRCh38]
Chr6:129674291 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4437-19C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737368] Chr6:129349279 [GRCh38]
Chr6:129670424 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+20del deletion LAMA2-related muscular dystrophy [RCV003737367] Chr6:129403979 [GRCh38]
Chr6:129725124 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8409T>C (p.Phe2803=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737366] Chr6:129503142 [GRCh38]
Chr6:129824287 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+19_5234+21del microsatellite LAMA2-related muscular dystrophy [RCV003737363] Chr6:129391667..129391669 [GRCh38]
Chr6:129712812..129712814 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8548-16_8548-14del deletion LAMA2-related muscular dystrophy [RCV003737362] Chr6:129505182..129505184 [GRCh38]
Chr6:129826327..129826329 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-7T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003737359] Chr6:129098166 [GRCh38]
Chr6:129419311 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6993-11T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003737358] Chr6:129464279 [GRCh38]
Chr6:129785424 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+16C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003737453] Chr6:129250229 [GRCh38]
Chr6:129571374 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8396C>G (p.Ser2799Cys) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737354] Chr6:129503129 [GRCh38]
Chr6:129824274 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1885-15T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738511] Chr6:129252069 [GRCh38]
Chr6:129573214 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738512] Chr6:129250092 [GRCh38]
Chr6:129571237 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6588dup (p.Ile2197fs) duplication LAMA2-related muscular dystrophy [RCV003738514] Chr6:129454168..129454169 [GRCh38]
Chr6:129775313..129775314 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6051T>C (p.Asn2017=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738520] Chr6:129438728 [GRCh38]
Chr6:129759873 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.60A>G (p.Val20=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738521] Chr6:128883305 [GRCh38]
Chr6:129204450 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.225G>T (p.Gly75=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003738523] Chr6:129050030 [GRCh38]
Chr6:129371175 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5968+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003738539] Chr6:129427867 [GRCh38]
Chr6:129749012 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4686C>T (p.His1562=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003847381] Chr6:129353326 [GRCh38]
Chr6:129674471 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4959+13A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735441] Chr6:129370003 [GRCh38]
Chr6:129691148 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.879C>G (p.Ala293=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735438] Chr6:129147018 [GRCh38]
Chr6:129468163 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4638C>A (p.Cys1546Ter) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735436] Chr6:129353278 [GRCh38]
Chr6:129674423 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.5563-11C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735432] Chr6:129402313 [GRCh38]
Chr6:129723458 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7898+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735431] Chr6:129486632 [GRCh38]
Chr6:129807777 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8547+10C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735430] Chr6:129503290 [GRCh38]
Chr6:129824435 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3412-14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735502] Chr6:129314641 [GRCh38]
Chr6:129635786 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-11G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735506] Chr6:129445656 [GRCh38]
Chr6:129766801 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3618C>A (p.Thr1206=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735508] Chr6:129315538 [GRCh38]
Chr6:129636683 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.284-8C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003738633] Chr6:129059776 [GRCh38]
Chr6:129380921 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735825] Chr6:129453148 [GRCh38]
Chr6:129774293 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3192A>G (p.Thr1064=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003737562] Chr6:129312878 [GRCh38]
Chr6:129634023 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3 copy number gain not specified [RCV003986631] Chr6:119840686..156623091 [GRCh37]
Chr6:6q22.31-25.3		 pathogenic
NM_000426.4(LAMA2):c.7300+17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003818692] Chr6:129465306 [GRCh38]
Chr6:129786451 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3528T>C (p.Ser1176=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003843867] Chr6:129314771 [GRCh38]
Chr6:129635916 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1398C>T (p.Cys466=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003867745] Chr6:129177797 [GRCh38]
Chr6:129498942 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.284-18A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003860464] Chr6:129059766 [GRCh38]
Chr6:129380911 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.397-11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003846121] Chr6:129098162 [GRCh38]
Chr6:129419307 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.283+14T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003841350] Chr6:129050102 [GRCh38]
Chr6:129371247 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.9123C>G (p.Val3041=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003859296] Chr6:129514507 [GRCh38]
Chr6:129835652 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1665T>C (p.Ala555=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003845521] Chr6:129192736 [GRCh38]
Chr6:129513881 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5071+13A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735048] Chr6:129383246 [GRCh38]
Chr6:129704391 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7434C>T (p.Asn2478=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735051] Chr6:129473347 [GRCh38]
Chr6:129794492 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7439+16T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735052] Chr6:129473368 [GRCh38]
Chr6:129794513 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1884+19G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735053] Chr6:129250232 [GRCh38]
Chr6:129571377 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4960-19C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735054] Chr6:129383103 [GRCh38]
Chr6:129704248 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2096+14C>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735055] Chr6:129252309 [GRCh38]
Chr6:129573454 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6033T>C (p.Asp2011=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735266] Chr6:129438710 [GRCh38]
Chr6:129759855 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3604C>T (p.Leu1202=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735270] Chr6:129315524 [GRCh38]
Chr6:129636669 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5446-8G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735273] Chr6:129401216 [GRCh38]
Chr6:129722361 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.234G>A (p.Val78=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735274] Chr6:129050039 [GRCh38]
Chr6:129371184 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2749+1G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735307] Chr6:129288059 [GRCh38]
Chr6:129609204 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.3570T>A (p.Ala1190=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735334] Chr6:129315490 [GRCh38]
Chr6:129636635 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7782T>C (p.Arg2594=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735336] Chr6:129486506 [GRCh38]
Chr6:129807651 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1911C>T (p.Ala637=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735337] Chr6:129252110 [GRCh38]
Chr6:129573255 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6573+13T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735079] Chr6:129453144 [GRCh38]
Chr6:129774289 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5058C>T (p.Ala1686=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735080] Chr6:129383220 [GRCh38]
Chr6:129704365 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1815C>G (p.Thr605=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735081] Chr6:129250144 [GRCh38]
Chr6:129571289 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1207-13A>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735083] Chr6:129165563 [GRCh38]
Chr6:129486708 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6269-16G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003735339] Chr6:129443047 [GRCh38]
Chr6:129764192 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.213A>G (p.Glu71=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735341] Chr6:129050018 [GRCh38]
Chr6:129371163 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.819+10G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735353] Chr6:129144090 [GRCh38]
Chr6:129465235 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4198C>A (p.Arg1400=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735354] Chr6:129328299 [GRCh38]
Chr6:129649444 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4629A>T (p.Thr1543=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735356] Chr6:129353269 [GRCh38]
Chr6:129674414 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1609-17T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735358] Chr6:129192663 [GRCh38]
Chr6:129513808 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5865+17A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735359] Chr6:129403976 [GRCh38]
Chr6:129725121 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1197A>G (p.Arg399=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735401] Chr6:129154674 [GRCh38]
Chr6:129475819 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2859_2862dup (p.Thr955fs) duplication LAMA2-related muscular dystrophy [RCV003735404] Chr6:129297686..129297687 [GRCh38]
Chr6:129618831..129618832 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.231T>C (p.Pro77=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735407] Chr6:129050036 [GRCh38]
Chr6:129371181 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2252del (p.Gly751fs) deletion LAMA2-related muscular dystrophy [RCV003735408] Chr6:129267148 [GRCh38]
Chr6:129588293 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.6852G>C (p.Leu2284=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735413] Chr6:129456479 [GRCh38]
Chr6:129777624 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5480A>G (p.Gln1827Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735418] Chr6:129401258 [GRCh38]
Chr6:129722403 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6268+12T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003863584] Chr6:129441010 [GRCh38]
Chr6:129762155 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4861-9C>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735181] Chr6:129369883 [GRCh38]
Chr6:129691028 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2754T>C (p.Cys918=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735183] Chr6:129291618 [GRCh38]
Chr6:129612763 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3618C>T (p.Thr1206=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735184] Chr6:129315538 [GRCh38]
Chr6:129636683 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3462A>G (p.Gly1154=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735187] Chr6:129314705 [GRCh38]
Chr6:129635850 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4374T>A (p.Ile1458=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735190] Chr6:129342405 [GRCh38]
Chr6:129663550 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2079G>C (p.Gly693=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735419] Chr6:129252278 [GRCh38]
Chr6:129573423 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1783-4G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735422] Chr6:129250108 [GRCh38]
Chr6:129571253 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4718-20_4718-19del deletion LAMA2-related muscular dystrophy [RCV003735423] Chr6:129366198..129366199 [GRCh38]
Chr6:129687343..129687344 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8858-18A>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735425] Chr6:129512345 [GRCh38]
Chr6:129833490 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4717+20T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735426] Chr6:129353377 [GRCh38]
Chr6:129674522 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2644T>C (p.Leu882=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735451] Chr6:129287953 [GRCh38]
Chr6:129609098 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7301-10T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735452] Chr6:129473204 [GRCh38]
Chr6:129794349 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7515G>C (p.Pro2505=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735453] Chr6:129478756 [GRCh38]
Chr6:129799901 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5130T>C (p.Phe1710=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735459] Chr6:129391549 [GRCh38]
Chr6:129712694 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4170C>G (p.Ser1390=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735460] Chr6:129320649 [GRCh38]
Chr6:129641794 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3174+7G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003866789] Chr6:129300879 [GRCh38]
Chr6:129622024 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4338C>T (p.Asp1446=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735248] Chr6:129342369 [GRCh38]
Chr6:129663514 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+14T>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735249] Chr6:129391667 [GRCh38]
Chr6:129712812 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7437G>A (p.Leu2479=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735256] Chr6:129473350 [GRCh38]
Chr6:129794495 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+7A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735258] Chr6:129391660 [GRCh38]
Chr6:129712805 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4993G>C (p.Gly1665Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735261] Chr6:129383155 [GRCh38]
Chr6:129704300 [GRCh37]
Chr6:6q22.33		 benign
NM_000426.4(LAMA2):c.189T>A (p.Pro63=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735542] Chr6:129049994 [GRCh38]
Chr6:129371139 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.284-16G>A single nucleotide variant LAMA2-related muscular dystrophy [RCV003735605] Chr6:129059768 [GRCh38]
Chr6:129380913 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3867G>A (p.Arg1289=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003859362] Chr6:129315893 [GRCh38]
Chr6:129637038 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+15T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735536] Chr6:129512508 [GRCh38]
Chr6:129833653 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.4312-18C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003735681] Chr6:129342325 [GRCh38]
Chr6:129663470 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1782+17T>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003735665] Chr6:129192870 [GRCh38]
Chr6:129514015 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.915T>C (p.Ser305=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003861131] Chr6:129148984 [GRCh38]
Chr6:129470129 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-14G>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003823840] Chr6:129393031 [GRCh38]
Chr6:129714176 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+7G>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003845408] Chr6:129512500 [GRCh38]
Chr6:129833645 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3925-7T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003857347] Chr6:129316031 [GRCh38]
Chr6:129637176 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.903G>C (p.Ala301=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003735950] Chr6:129147042 [GRCh38]
Chr6:129468187 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7062C>T (p.Pro2354=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003858684] Chr6:129464359 [GRCh38]
Chr6:129785504 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8790T>C (p.His2930=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003823306] Chr6:129507575 [GRCh38]
Chr6:129828720 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3591G>A (p.Leu1197=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003846918] Chr6:129315511 [GRCh38]
Chr6:129636656 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6275-17A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003845242] Chr6:129445650 [GRCh38]
Chr6:129766795 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8988+6_8988+7insCAAT insertion LAMA2-related muscular dystrophy [RCV003845407] Chr6:129512498..129512499 [GRCh38]
Chr6:129833643..129833644 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7899-11T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003822891] Chr6:129491890 [GRCh38]
Chr6:129813035 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5234+17T>C single nucleotide variant LAMA2-related muscular dystrophy [RCV003847436] Chr6:129391670 [GRCh38]
Chr6:129712815 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.8244+18C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003844077] Chr6:129492501 [GRCh38]
Chr6:129813646 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+12C>T single nucleotide variant LAMA2-related muscular dystrophy [RCV003736322] Chr6:129481451 [GRCh38]
Chr6:129802596 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3345C>T (p.Ala1115=) single nucleotide variant LAMA2-related muscular dystrophy [RCV003845987] Chr6:129313031 [GRCh38]
Chr6:129634176 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7749+6C>T single nucleotide variant not specified [RCV003988432] Chr6:129481445 [GRCh38]
Chr6:129802590 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.4689G>A (p.Trp1563Ter) single nucleotide variant LAMA2-related condition [RCV003899362] Chr6:129353329 [GRCh38]
Chr6:129674474 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.6597G>A (p.Met2199Ile) single nucleotide variant LAMA2-related condition [RCV003983617] Chr6:129454178 [GRCh38]
Chr6:129775323 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2918_2936del (p.Gly973fs) deletion not provided [RCV003887610] Chr6:129297744..129297762 [GRCh38]
Chr6:129618889..129618907 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.8614A>G (p.Ser2872Gly) single nucleotide variant not specified [RCV003988527] Chr6:129505266 [GRCh38]
Chr6:129826411 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2857-48C>T single nucleotide variant LAMA2-related condition [RCV003921428] Chr6:129297637 [GRCh38]
Chr6:129618782 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2857-47G>A single nucleotide variant LAMA2-related condition [RCV003952083] Chr6:129297638 [GRCh38]
Chr6:129618783 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.5235-28T>C single nucleotide variant LAMA2-related condition [RCV003949665] Chr6:129393017 [GRCh38]
Chr6:129714162 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.3168T>C (p.Gly1056=) single nucleotide variant LAMA2-related condition [RCV003946815] Chr6:129300866 [GRCh38]
Chr6:129622011 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.6757_6774del (p.Ala2253_Ser2258del) deletion not provided [RCV003887170] Chr6:129456384..129456401 [GRCh38]
Chr6:129777529..129777546 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.1027+20A>G single nucleotide variant LAMA2-related muscular dystrophy [RCV003875262] Chr6:129149116 [GRCh38]
Chr6:129470261 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.2127C>T (p.Val709=) single nucleotide variant LAMA2-related muscular dystrophy [RCV001414071] Chr6:129260741 [GRCh38]
Chr6:129581886 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter) single nucleotide variant Hypotonia [RCV000850320] Chr6:129165657 [GRCh38]
Chr6:129486802 [GRCh37]
Chr6:6q22.33		 likely pathogenic
NM_000426.4(LAMA2):c.4880G>A (p.Arg1627Gln) single nucleotide variant not provided [RCV001256049] Chr6:129369911 [GRCh38]
Chr6:129691056 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.521C>T (p.Thr174Met) single nucleotide variant LAMA2-related muscular dystrophy [RCV002543970]|not provided [RCV001752263] Chr6:129098297 [GRCh38]
Chr6:129419442 [GRCh37]
Chr6:6q22.33		 likely benign|uncertain significance
NM_000426.4(LAMA2):c.6993-7_6993-3del deletion not provided [RCV001774489] Chr6:129464279..129464283 [GRCh38]
Chr6:129785424..129785428 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1209A>G (p.Val403=) single nucleotide variant LAMA2-related muscular dystrophy [RCV002216755] Chr6:129165578 [GRCh38]
Chr6:129486723 [GRCh37]
Chr6:6q22.33		 likely benign
NM_000426.4(LAMA2):c.7067G>A (p.Arg2356His) single nucleotide variant LAMA2-related muscular dystrophy [RCV003115154]|not provided [RCV003135278] Chr6:129464364 [GRCh38]
Chr6:129785509 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3379T>C (p.Cys1127Arg) single nucleotide variant LAMA2-related muscular dystrophy [RCV003118835] Chr6:129313065 [GRCh38]
Chr6:129634210 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3741G>A (p.Met1247Ile) single nucleotide variant not provided [RCV003131438] Chr6:129315767 [GRCh38]
Chr6:129636912 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6031G>T (p.Asp2011Tyr) single nucleotide variant not provided [RCV003131440] Chr6:129438708 [GRCh38]
Chr6:129759853 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.7612G>A (p.Glu2538Lys) single nucleotide variant not provided [RCV003131446] Chr6:129481302 [GRCh38]
Chr6:129802447 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.6532G>A (p.Val2178Ile) single nucleotide variant not provided [RCV003131434] Chr6:129453090 [GRCh38]
Chr6:129774235 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2657G>A (p.Cys886Tyr) single nucleotide variant not provided [RCV003131435] Chr6:129287966 [GRCh38]
Chr6:129609111 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8713A>C (p.Ser2905Arg) single nucleotide variant not provided [RCV003131429] Chr6:129507498 [GRCh38]
Chr6:129828643 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3028G>A (p.Gly1010Ser) single nucleotide variant not provided [RCV003131420] Chr6:129297856 [GRCh38]
Chr6:129619001 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.1178G>T (p.Cys393Phe) single nucleotide variant not provided [RCV003131418] Chr6:129154655 [GRCh38]
Chr6:129475800 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8240C>T (p.Thr2747Ile) single nucleotide variant not provided [RCV003131433] Chr6:129492479 [GRCh38]
Chr6:129813624 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3460G>A (p.Gly1154Arg) single nucleotide variant not provided [RCV003133984] Chr6:129314703 [GRCh38]
Chr6:129635848 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8411A>C (p.Tyr2804Ser) single nucleotide variant not provided [RCV003133987] Chr6:129503144 [GRCh38]
Chr6:129824289 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.2749+4_2749+15del deletion not provided [RCV003133994] Chr6:129288060..129288071 [GRCh38]
Chr6:129609205..129609216 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9106C>T (p.Arg3036Cys) single nucleotide variant not provided [RCV003133995] Chr6:129514490 [GRCh38]
Chr6:129835635 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5752T>A (p.Ser1918Thr) single nucleotide variant not provided [RCV003134008] Chr6:129403846 [GRCh38]
Chr6:129724991 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8048G>A (p.Cys2683Tyr) single nucleotide variant not provided [RCV003134009] Chr6:129492050 [GRCh38]
Chr6:129813195 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.5621T>C (p.Ile1874Thr) single nucleotide variant not provided [RCV003134010] Chr6:129402382 [GRCh38]
Chr6:129723527 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.9026C>G (p.Thr3009Ser) single nucleotide variant not provided [RCV003134011] Chr6:129514410 [GRCh38]
Chr6:129835555 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8357+115dup duplication not provided [RCV003325875] Chr6:129502885..129502886 [GRCh38]
Chr6:129824030..129824031 [GRCh37]
Chr6:6q22.33		 likely benign
GRCh37/hg19 6q22.33(chr6:129612759-129622017)x3 copy number gain not provided [RCV003327179] Chr6:129612759..129622017 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.1823_1824del (p.Ser607_Tyr608insTer) microsatellite LAMA2-related muscular dystrophy [RCV003738434]|Merosin deficient congenital muscular dystrophy [RCV003340704] Chr6:129250150..129250151 [GRCh38]
Chr6:129571295..129571296 [GRCh37]
Chr6:6q22.33		 pathogenic
NM_000426.4(LAMA2):c.2585G>A (p.Cys862Tyr) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003337883] Chr6:129287894 [GRCh38]
Chr6:129609039 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.29T>A (p.Leu10His) single nucleotide variant Muscular dystrophy, limb-girdle, autosomal recessive 23 [RCV003340951] Chr6:128883274 [GRCh38]
Chr6:129204419 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.8243A>T (p.His2748Leu) single nucleotide variant Inborn genetic diseases [RCV003381652] Chr6:129492482 [GRCh38]
Chr6:129813627 [GRCh37]
Chr6:6q22.33		 uncertain significance
NM_000426.4(LAMA2):c.3500A>G (p.Tyr1167Cys) single nucleotide variant Inborn genetic diseases [RCV003372184] Chr6:129314743 [GRCh38]
Chr6:129635888 [GRCh37]
Chr6:6q22.33		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:449
Count of miRNA genes:371
Interacting mature miRNAs:396
Transcripts:ENST00000421865, ENST00000466230, ENST00000494137, ENST00000498257
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D6S2085  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,556,878 - 129,557,021UniSTSGRCh37
Build 366129,598,571 - 129,598,714RGDNCBI36
Celera6130,303,167 - 130,303,310RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,138,092 - 127,138,235UniSTS
TNG Radiation Hybrid Map663824.0UniSTS
Stanford-G3 RH Map65315.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61519.9UniSTS
GeneMap99-G3 RH Map65618.0UniSTS
D6S2437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,656,448 - 129,656,593UniSTSGRCh37
Build 366129,698,141 - 129,698,286RGDNCBI36
Celera6130,402,556 - 130,402,705RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,237,352 - 127,237,501UniSTS
Marshfield Genetic Map6124.11UniSTS
deCODE Assembly Map6128.74UniSTS
D6S1457  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,428,692 - 129,428,800UniSTSGRCh37
Build 366129,470,385 - 129,470,493RGDNCBI36
Celera6130,174,980 - 130,175,088RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,009,932 - 127,010,040UniSTS
Whitehead-YAC Contig Map6 UniSTS
SHGC-83145  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,344,046 - 129,344,348UniSTSGRCh37
Build 366129,385,739 - 129,386,041RGDNCBI36
Celera6130,090,309 - 130,090,611RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6126,925,283 - 126,925,585UniSTS
TNG Radiation Hybrid Map663904.0UniSTS
SHGC-68772  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,704,590 - 129,704,867UniSTSGRCh37
Build 366129,746,283 - 129,746,560RGDNCBI36
Celera6130,450,710 - 130,450,987RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,285,507 - 127,285,784UniSTS
TNG Radiation Hybrid Map663639.0UniSTS
SHGC-79252  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,556,574 - 129,556,853UniSTSGRCh37
Build 366129,598,267 - 129,598,546RGDNCBI36
Celera6130,302,863 - 130,303,142RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,137,788 - 127,138,067UniSTS
TNG Radiation Hybrid Map663819.0UniSTS
RH119549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,711,569 - 129,711,855UniSTSGRCh37
Build 366129,753,262 - 129,753,548RGDNCBI36
Celera6130,457,690 - 130,457,976RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,292,593 - 127,292,879UniSTS
TNG Radiation Hybrid Map663639.0UniSTS
RH120703  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,825,810 - 129,826,083UniSTSGRCh37
Build 366129,867,503 - 129,867,776RGDNCBI36
Celera6130,571,887 - 130,572,160RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,406,463 - 127,406,736UniSTS
TNG Radiation Hybrid Map663599.0UniSTS
RH122053  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,712,035 - 129,712,313UniSTSGRCh37
Build 366129,753,728 - 129,754,006RGDNCBI36
Celera6130,458,156 - 130,458,434RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,293,059 - 127,293,337UniSTS
TNG Radiation Hybrid Map663639.0UniSTS
SHGC-111271  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,438,231 - 129,438,331UniSTSGRCh37
Build 366129,479,924 - 129,480,024RGDNCBI36
Celera6130,184,518 - 130,184,618RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,019,470 - 127,019,570UniSTS
TNG Radiation Hybrid Map663874.0UniSTS
SHGC-111945  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,307,323 - 129,307,644UniSTSGRCh37
Build 366129,349,016 - 129,349,337RGDNCBI36
Celera6130,053,589 - 130,053,910RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6126,888,562 - 126,888,883UniSTS
TNG Radiation Hybrid Map663926.0UniSTS
SHGC-104670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,442,584 - 129,442,907UniSTSGRCh37
Build 366129,484,277 - 129,484,600RGDNCBI36
Celera6130,188,871 - 130,189,194RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,023,823 - 127,024,146UniSTS
TNG Radiation Hybrid Map663870.0UniSTS
SHGC-143161  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,369,053 - 129,369,324UniSTSGRCh37
Build 366129,410,746 - 129,411,017RGDNCBI36
Celera6130,115,323 - 130,115,594RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6126,950,297 - 126,950,568UniSTS
SHGC-144988  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,748,610 - 129,748,921UniSTSGRCh37
Build 366129,790,303 - 129,790,614RGDNCBI36
Celera6130,494,709 - 130,495,020RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,329,298 - 127,329,609UniSTS
TNG Radiation Hybrid Map663613.0UniSTS
SHGC-146573  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,604,734 - 129,605,030UniSTSGRCh37
Build 366129,646,427 - 129,646,723RGDNCBI36
Celera6130,350,983 - 130,351,279RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,185,883 - 127,186,179UniSTS
TNG Radiation Hybrid Map663786.0UniSTS
SHGC-148006  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,344,861 - 129,345,187UniSTSGRCh37
Build 366129,386,554 - 129,386,880RGDNCBI36
Celera6130,091,124 - 130,091,450RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6126,926,098 - 126,926,424UniSTS
TNG Radiation Hybrid Map663904.0UniSTS
SHGC-149941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,344,547 - 129,344,883UniSTSGRCh37
Build 366129,386,240 - 129,386,576RGDNCBI36
Celera6130,090,810 - 130,091,146RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6126,925,784 - 126,926,120UniSTS
TNG Radiation Hybrid Map663904.0UniSTS
SHGC-153360  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,582,110 - 129,582,417UniSTSGRCh37
Build 366129,623,803 - 129,624,110RGDNCBI36
Celera6130,328,391 - 130,328,698RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,163,291 - 127,163,598UniSTS
TNG Radiation Hybrid Map663799.0UniSTS
SHGC-155545  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,784,292 - 129,784,607UniSTSGRCh37
Build 366129,825,985 - 129,826,300RGDNCBI36
Celera6130,530,372 - 130,530,687RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,364,973 - 127,365,288UniSTS
TNG Radiation Hybrid Map663679.0UniSTS
WI-17944  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377142,954,478 - 142,954,592UniSTSGRCh37
GRCh376129,446,933 - 129,447,057UniSTSGRCh37
Build 366129,488,626 - 129,488,750RGDNCBI36
Celera7137,791,349 - 137,791,463UniSTS
Celera6130,193,220 - 130,193,344RGD
Cytogenetic Map6q22-q23UniSTS
HuRef7137,291,843 - 137,291,957UniSTS
HuRef6127,028,172 - 127,028,296UniSTS
CRA_TCAGchr7v27142,356,601 - 142,356,715UniSTS
GeneMap99-GB4 RH Map6516.25UniSTS
Whitehead-RH Map6738.3UniSTS
WI-12009  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,837,376 - 129,837,525UniSTSGRCh37
Build 366129,879,069 - 129,879,218RGDNCBI36
Celera6130,583,458 - 130,583,607RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,418,030 - 127,418,179UniSTS
GeneMap99-GB4 RH Map6516.35UniSTS
Whitehead-RH Map6738.3UniSTS
RH46671  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,446,848 - 129,446,987UniSTSGRCh37
Build 366129,488,541 - 129,488,680RGDNCBI36
Celera6130,193,135 - 130,193,274RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,028,087 - 127,028,226UniSTS
GeneMap99-GB4 RH Map6516.35UniSTS
SGC44486  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,581,995 - 129,582,258UniSTSGRCh37
Build 366129,623,688 - 129,623,951RGDNCBI36
Celera6130,328,276 - 130,328,539RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,163,176 - 127,163,439UniSTS
GeneMap99-GB4 RH Map6516.65UniSTS
Whitehead-RH Map6740.1UniSTS
G30956  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376129,733,542 - 129,733,687UniSTSGRCh37
Build 366129,775,235 - 129,775,380RGDNCBI36
Celera6130,479,642 - 130,479,787RGD
Cytogenetic Map6q22-q23UniSTS
HuRef6127,314,545 - 127,314,690UniSTS
D6S2413  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q22-q23UniSTS
HuRef6127,237,349 - 127,237,511UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1922 2135 873 166 227 36 3425 1843 761 72 995 1226 131 1190 2364 2
Low 446 132 789 412 371 382 896 325 2914 283 406 263 38 1 14 424 2 1
Below cutoff 56 720 57 40 1198 41 35 22 41 62 55 99 5 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000426 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001079823 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011535820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB208922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH003690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK026829 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK125980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL041786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL356124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL445439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL513527 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL583853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL589927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590613 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL669984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM984634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA421469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN414799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA864571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB106101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY054725 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY100117 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KY100118 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M59832 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OQ865237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y07831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z26653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000421865   ⟹   ENSP00000400365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6128,883,138 - 129,516,566 (+)Ensembl
RefSeq Acc Id: ENST00000466230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6128,883,315 - 129,049,981 (+)Ensembl
RefSeq Acc Id: ENST00000494137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,490,717 - 129,516,528 (+)Ensembl
RefSeq Acc Id: ENST00000498257
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,490,683 - 129,516,566 (+)Ensembl
RefSeq Acc Id: ENST00000617695   ⟹   ENSP00000481744
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6128,883,138 - 129,516,538 (+)Ensembl
RefSeq Acc Id: ENST00000618192   ⟹   ENSP00000480802
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6128,883,138 - 129,516,566 (+)Ensembl
RefSeq Acc Id: ENST00000645154   ⟹   ENSP00000493888
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,291,614 - 129,297,865 (+)Ensembl
RefSeq Acc Id: ENST00000684985
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,445,762 - 129,467,479 (+)Ensembl
RefSeq Acc Id: ENST00000685128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,143,106 - 129,165,795 (+)Ensembl
RefSeq Acc Id: ENST00000686577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6128,883,180 - 129,167,022 (+)Ensembl
RefSeq Acc Id: ENST00000686599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6128,883,141 - 129,194,025 (+)Ensembl
RefSeq Acc Id: ENST00000687590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,365,082 - 129,395,932 (+)Ensembl
RefSeq Acc Id: ENST00000688150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,456,081 - 129,465,207 (+)Ensembl
RefSeq Acc Id: ENST00000688198
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,485,747 - 129,516,528 (+)Ensembl
RefSeq Acc Id: ENST00000688799   ⟹   ENSP00000508458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,490,736 - 129,516,566 (+)Ensembl
RefSeq Acc Id: ENST00000689044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,049,916 - 129,146,386 (+)Ensembl
RefSeq Acc Id: ENST00000690858
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,491,009 - 129,516,548 (+)Ensembl
RefSeq Acc Id: ENST00000690881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,098,314 - 129,243,045 (+)Ensembl
RefSeq Acc Id: ENST00000692206
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,342,383 - 129,353,716 (+)Ensembl
RefSeq Acc Id: ENST00000693425
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,349,336 - 129,366,727 (+)Ensembl
RefSeq Acc Id: ENST00000693461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6129,501,117 - 129,516,529 (+)Ensembl
RefSeq Acc Id: NM_000426   ⟹   NP_000417
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386128,883,138 - 129,516,566 (+)NCBI
GRCh376129,204,286 - 129,837,711 (+)ENTREZGENE
Build 366129,245,979 - 129,879,404 (+)NCBI Archive
HuRef6126,785,527 - 127,418,362 (+)ENTREZGENE
CHM1_16129,468,357 - 130,101,369 (+)NCBI
T2T-CHM13v2.06130,076,331 - 130,710,229 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001079823   ⟹   NP_001073291
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386128,883,138 - 129,516,566 (+)NCBI
GRCh376129,204,286 - 129,837,711 (+)ENTREZGENE
Build 366129,245,979 - 129,879,404 (+)NCBI Archive
HuRef6126,785,527 - 127,418,362 (+)ENTREZGENE
CHM1_16129,468,357 - 130,101,369 (+)NCBI
T2T-CHM13v2.06130,076,331 - 130,710,229 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_000417   ⟸   NM_000426
- Peptide Label: isoform a precursor
- UniProtKB: Q5VUM2 (UniProtKB/Swiss-Prot),   Q14736 (UniProtKB/Swiss-Prot),   P24043 (UniProtKB/Swiss-Prot),   Q93022 (UniProtKB/Swiss-Prot),   A0A087WX80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001073291   ⟸   NM_001079823
- Peptide Label: isoform b precursor
- UniProtKB: A0A087WYF1 (UniProtKB/TrEMBL),   A0A087WX80 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000481744   ⟸   ENST00000617695
RefSeq Acc Id: ENSP00000480802   ⟸   ENST00000618192
RefSeq Acc Id: ENSP00000493888   ⟸   ENST00000645154
RefSeq Acc Id: ENSP00000400365   ⟸   ENST00000421865
RefSeq Acc Id: ENSP00000508458   ⟸   ENST00000688799
Protein Domains
Laminin EGF-like   Laminin G   Laminin G-like   Laminin IV type A   Laminin N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24043-F1-model_v2 AlphaFold P24043 1-1400 view protein structure
AF-P24043-F2-model_v2 AlphaFold P24043 201-1600 view protein structure
AF-P24043-F3-model_v2 AlphaFold P24043 401-1800 view protein structure
AF-P24043-F4-model_v2 AlphaFold P24043 601-2000 view protein structure
AF-P24043-F5-model_v2 AlphaFold P24043 801-2200 view protein structure
AF-P24043-F6-model_v2 AlphaFold P24043 1001-2400 view protein structure
AF-P24043-F7-model_v2 AlphaFold P24043 1201-2600 view protein structure
AF-P24043-F8-model_v2 AlphaFold P24043 1401-2800 view protein structure
AF-P24043-F9-model_v2 AlphaFold P24043 1601-3000 view protein structure
AF-P24043-F10-model_v2 AlphaFold P24043 1801-3122 view protein structure

Promoters
RGD ID:6804407
Promoter ID:HG_KWN:54977
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000042181,   OTTHUMT00000042182
Position:
Human AssemblyChrPosition (strand)Source
Build 366129,853,461 - 129,853,997 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6482 AgrOrtholog
COSMIC LAMA2 COSMIC
Ensembl Genes ENSG00000196569 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000421865 ENTREZGENE
  ENST00000421865.3 UniProtKB/Swiss-Prot
  ENST00000466230.2 UniProtKB/TrEMBL
  ENST00000494137.2 UniProtKB/TrEMBL
  ENST00000498257.6 UniProtKB/TrEMBL
  ENST00000617695 ENTREZGENE
  ENST00000617695.5 UniProtKB/TrEMBL
  ENST00000618192.5 UniProtKB/TrEMBL
  ENST00000688799.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Galactose-binding domain-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Tie2 ligand-binding domain superfamily UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000196569 GTEx
HGNC ID HGNC:6482 ENTREZGENE
Human Proteome Map LAMA2 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_ UniProtKB/TrEMBL
  Laminin_aI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_dom_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_IV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3908 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3908 ENTREZGENE
OMIM 156225 OMIM
PANTHER LAMININ SUBUNIT ALPHA-2 UniProtKB/TrEMBL
  LAMININ SUBUNIT ALPHA-LIKE PROTEIN UniProtKB/TrEMBL
  LAMININ SUBUNIT GAMMA-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NETRIN/LAMININ-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PIKACHURIN-LIKE PROTEIN UniProtKB/TrEMBL
Pfam Laminin_B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_G_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30271 PharmGKB
PRINTS EGFLAMININ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EGF_1 UniProtKB/Swiss-Prot
  EGF_2 UniProtKB/Swiss-Prot
  EGF_LAM_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_LAM_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAM_G_DOMAIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMININ_IVA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LAMININ_NTER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamB UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamNT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP ADP-ribosylation UniProtKB/TrEMBL
  EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Methyl-accepting chemotaxis protein (MCP) signaling domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/TrEMBL
UniProt A0A087WX80 ENTREZGENE, UniProtKB/TrEMBL
  A0A087WYF1 ENTREZGENE, UniProtKB/TrEMBL
  A0A1P8NQA0_HUMAN UniProtKB/TrEMBL
  A0A1P8NQC0_HUMAN UniProtKB/TrEMBL
  A0A1P8NQC4_HUMAN UniProtKB/TrEMBL
  A0A8I5KQG5_HUMAN UniProtKB/TrEMBL
  A0A8I5KYA2_HUMAN UniProtKB/TrEMBL
  LAMA2_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q14736 ENTREZGENE
  Q59H37_HUMAN UniProtKB/TrEMBL
  Q5VUM2 ENTREZGENE
  Q93022 ENTREZGENE
UniProt Secondary Q14736 UniProtKB/Swiss-Prot
  Q5VUM2 UniProtKB/Swiss-Prot
  Q93022 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LAMA2  laminin subunit alpha 2  LAMA2  laminin, alpha 2  Symbol and/or name change 5135510 APPROVED