LAMA4 (laminin subunit alpha 4) - Rat Genome Database

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Gene: LAMA4 (laminin subunit alpha 4) Homo sapiens
Analyze
Symbol: LAMA4
Name: laminin subunit alpha 4
RGD ID: 1320894
HGNC Page HGNC:6484
Description: Predicted to be an extracellular matrix structural constituent. Predicted to be involved in negative regulation of cold-induced thermogenesis. Predicted to act upstream of or within blood vessel development and brown fat cell differentiation. Located in basement membrane. Implicated in dilated cardiomyopathy 1JJ.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMD1JJ; DKFZp686D23145; LAMA3; LAMA4*-1; laminin alpha 4 chain; laminin subunit alpha-4; laminin, alpha 4; laminin-14 subunit alpha; laminin-8 subunit alpha; laminin-9 subunit alpha
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
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
GRCh386112,107,931 - 112,254,985 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6112,107,931 - 112,254,939 (-)EnsemblGRCh38hg38GRCh38
GRCh376112,429,134 - 112,575,769 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366112,535,827 - 112,682,521 (-)NCBINCBI36Build 36hg18NCBI36
Build 346112,536,769 - 112,682,495NCBI
Celera6113,170,441 - 113,317,106 (-)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6110,003,995 - 110,150,732 (-)NCBIHuRef
CHM1_16112,691,472 - 112,838,207 (-)NCBICHM1_1
T2T-CHM13v2.06113,291,349 - 113,438,419 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4,6-tribromophenol  (EXP)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-amino-2-deoxy-D-glucopyranose  (ISO)
3,3',5,5'-tetrabromobisphenol A  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucosamine  (ISO)
all-trans-retinoic acid  (EXP,ISO)
amitrole  (ISO)
antirheumatic drug  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-D-glucosamine  (ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
busulfan  (ISO)
cantharidin  (ISO)
carbon nanotube  (EXP,ISO)
CGP 52608  (EXP)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
decabromodiphenyl ether  (EXP)
dibenz[a,h]anthracene  (ISO)
diethyl malate  (ISO)
diethylstilbestrol  (ISO)
diquat  (ISO)
disodium selenite  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (EXP)
ethylparaben  (EXP)
fenofibrate  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
geldanamycin  (EXP)
GW 4064  (ISO)
hydroquinone  (EXP)
ivermectin  (EXP)
lipopolysaccharide  (EXP)
medroxyprogesterone acetate  (EXP)
methimazole  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-acetyl-1,4-benzoquinone imine  (EXP)
N-methyl-4-phenylpyridinium  (EXP)
nickel sulfate  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (EXP,ISO)
pirinixic acid  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
propanal  (EXP)
Ptaquiloside  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sodium arsenite  (EXP)
sotorasib  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
testosterone enanthate  (EXP)
trametinib  (EXP)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
troglitazone  (EXP,ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zinc atom  (EXP)
zinc sulfate  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7781776   PMID:7921537   PMID:7959779   PMID:8077230   PMID:8706685   PMID:8889548   PMID:9060828   PMID:9271224   PMID:9310354   PMID:9597096   PMID:10934193   PMID:11102753  
PMID:11311202   PMID:12133914   PMID:12393739   PMID:12445830   PMID:12454288   PMID:12477932   PMID:14557481   PMID:14574404   PMID:14980521   PMID:15086543   PMID:15231748   PMID:15342556  
PMID:15915502   PMID:16146715   PMID:16169070   PMID:16344560   PMID:16824487   PMID:17533363   PMID:17646580   PMID:18084776   PMID:18496706   PMID:18978678   PMID:19048114   PMID:19199708  
PMID:19469865   PMID:20433883   PMID:20485444   PMID:20936779   PMID:21362503   PMID:21988832   PMID:22261194   PMID:23414517   PMID:23979707   PMID:24681327   PMID:24742657   PMID:24951930  
PMID:25037231   PMID:25241761   PMID:25676580   PMID:26059342   PMID:26186194   PMID:26295200   PMID:26921326   PMID:27068509   PMID:27559042   PMID:27614294   PMID:28077445   PMID:28514442  
PMID:28675934   PMID:28973559   PMID:30015861   PMID:30455355   PMID:30561431   PMID:31343575   PMID:31536960   PMID:31553662   PMID:31842202   PMID:32296183   PMID:32628487   PMID:33961781  
PMID:34394003   PMID:34414238   PMID:35563538   PMID:35696571   PMID:36861161  


Genomics

Comparative Map Data
LAMA4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh386112,107,931 - 112,254,985 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl6112,107,931 - 112,254,939 (-)EnsemblGRCh38hg38GRCh38
GRCh376112,429,134 - 112,575,769 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 366112,535,827 - 112,682,521 (-)NCBINCBI36Build 36hg18NCBI36
Build 346112,536,769 - 112,682,495NCBI
Celera6113,170,441 - 113,317,106 (-)NCBICelera
Cytogenetic Map6q21NCBI
HuRef6110,003,995 - 110,150,732 (-)NCBIHuRef
CHM1_16112,691,472 - 112,838,207 (-)NCBICHM1_1
T2T-CHM13v2.06113,291,349 - 113,438,419 (-)NCBIT2T-CHM13v2.0
Lama4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391038,841,511 - 38,986,184 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1038,841,511 - 38,986,184 (+)EnsemblGRCm39 Ensembl
GRCm381038,965,515 - 39,110,188 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1038,965,515 - 39,110,188 (+)EnsemblGRCm38mm10GRCm38
MGSCv371038,685,647 - 38,829,937 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361038,642,372 - 38,799,589 (+)NCBIMGSCv36mm8
Celera1039,849,529 - 39,994,348 (+)NCBICelera
Cytogenetic Map10B1NCBI
cM Map1020.02NCBI
Lama4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82043,946,898 - 44,087,972 (+)NCBIGRCr8
mRatBN7.22042,392,268 - 42,533,347 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2042,392,268 - 42,533,347 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2044,140,520 - 44,282,481 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02043,799,717 - 43,941,686 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02044,530,527 - 44,672,276 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02044,060,715 - 44,201,966 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2044,060,731 - 44,209,614 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02045,786,892 - 45,926,468 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42043,077,612 - 43,203,519 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera2043,109,537 - 43,249,577 (+)NCBICelera
Cytogenetic Map20q12NCBI
Lama4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555264,330,388 - 4,465,528 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555264,330,388 - 4,465,810 (+)NCBIChiLan1.0ChiLan1.0
LAMA4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v25132,126,182 - 132,271,679 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan16130,007,748 - 130,159,899 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v06109,920,329 - 110,066,076 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.16113,995,888 - 114,141,276 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl6113,995,888 - 114,141,273 (-)Ensemblpanpan1.1panPan2
LAMA4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11268,535,614 - 68,639,115 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1268,535,860 - 68,678,762 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1268,354,056 - 68,496,654 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01269,417,409 - 69,559,811 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1269,417,668 - 69,560,564 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11268,776,959 - 68,919,392 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01268,614,450 - 68,756,976 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01268,941,341 - 69,083,774 (-)NCBIUU_Cfam_GSD_1.0
Lama4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404946103,570,956 - 103,705,873 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936679802,885 - 937,721 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936679803,131 - 938,022 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMA4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl178,071,458 - 78,224,365 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1178,071,990 - 78,224,564 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2187,740,885 - 87,892,989 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAMA4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11361,596,940 - 61,748,359 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1361,596,905 - 61,748,022 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604033,935,375 - 34,084,146 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in LAMA4
1628 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001105206.3(LAMA4):c.918C>A (p.Ala306=) single nucleotide variant Cardiovascular phenotype [RCV002377161]|Dilated cardiomyopathy 1JJ [RCV000528328] Chr6:112187498 [GRCh38]
Chr6:112508700 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3073T>C (p.Tyr1025His) single nucleotide variant Cardiovascular phenotype [RCV003159919]|Dilated cardiomyopathy 1JJ [RCV000554184] Chr6:112139789 [GRCh38]
Chr6:112460991 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2747A>T (p.Glu916Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000525595] Chr6:112141424 [GRCh38]
Chr6:112462626 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.962T>C (p.Leu321Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000691209]|not provided [RCV000519929] Chr6:112187454 [GRCh38]
Chr6:112508656 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2188C>T (p.Arg730Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000794780]|not provided [RCV000522246] Chr6:112148322 [GRCh38]
Chr6:112469524 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.753A>C (p.Val251=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002528640]|not specified [RCV000602579] Chr6:112189171 [GRCh38]
Chr6:112510373 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4409A>T (p.Tyr1470Phe) single nucleotide variant Cardiovascular phenotype [RCV002330959]|Dilated cardiomyopathy 1JJ [RCV000544358] Chr6:112122080 [GRCh38]
Chr6:112443283 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4181A>C (p.Lys1394Thr) single nucleotide variant not provided [RCV001508197] Chr6:112129028 [GRCh38]
Chr6:112450230 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.889G>A (p.Gly297Arg) single nucleotide variant Cardiovascular phenotype [RCV002376971]|Dilated cardiomyopathy 1JJ [RCV002525249]|not provided [RCV000520584] Chr6:112187527 [GRCh38]
Chr6:112508729 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1319G>A (p.Arg440Gln) single nucleotide variant Cardiovascular phenotype [RCV002384010]|Dilated cardiomyopathy 1JJ [RCV001857979]|not provided [RCV000518894] Chr6:112175351 [GRCh38]
Chr6:112496553 [GRCh37]
Chr6:6q21		 uncertain significance
NM_002290.4(LAMA4):c.4644+373A>G single nucleotide variant Lung cancer [RCV000096435] Chr6:112119910 [GRCh38]
Chr6:112441113 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter) single nucleotide variant Cardiovascular phenotype [RCV002321538]|Dilated cardiomyopathy 1JJ [RCV000043518]|not provided [RCV003430653] Chr6:112139164 [GRCh38]
Chr6:112460366 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000043519] Chr6:112140887 [GRCh38]
Chr6:112462089 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.195+131C>G single nucleotide variant not provided [RCV001546468]|not specified [RCV000036927] Chr6:112253825 [GRCh38]
Chr6:112575027 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_002290.4(LAMA4):c.1056+8_1056+9insT insertion AllHighlyPenetrant [RCV000037325]|not specified [RCV000037325] Chr6:112185228..112185229 [GRCh38]
Chr6:112506431 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1078-14C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002054653]|not specified [RCV000037326] Chr6:112178246 [GRCh38]
Chr6:112499448 [GRCh37]
Chr6:6q21		 benign|uncertain significance
NM_001105206.3(LAMA4):c.1190-8C>G single nucleotide variant Cardiomyopathy [RCV000770223]|Dilated cardiomyopathy 1JJ [RCV000468515]|not specified [RCV000037327] Chr6:112175488 [GRCh38]
Chr6:112496690 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.1209C>T (p.Leu403=) single nucleotide variant not specified [RCV000037328] Chr6:112175461 [GRCh38]
Chr6:112496663 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1298G>A (p.Arg433His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000686780]|not provided [RCV000767115]|not specified [RCV000037329] Chr6:112175372 [GRCh38]
Chr6:112496574 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1326C>T (p.Leu442=) single nucleotide variant Cardiovascular phenotype [RCV002381303]|Dilated cardiomyopathy 1JJ [RCV000546869]|not provided [RCV001697031]|not specified [RCV000037330] Chr6:112175344 [GRCh38]
Chr6:112496546 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.1357+4G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000456578]|not specified [RCV000037331] Chr6:112175309 [GRCh38]
Chr6:112496511 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1358-12A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002054654]|not specified [RCV000037332] Chr6:112172816 [GRCh38]
Chr6:112494018 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1374G>A (p.Glu458=) single nucleotide variant not specified [RCV000037333] Chr6:112172788 [GRCh38]
Chr6:112493990 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1390C>G (p.His464Asp) single nucleotide variant Cardiomyopathy [RCV001170697]|Cardiovascular phenotype [RCV003298066]|Dilated cardiomyopathy 1JJ [RCV000651446]|not provided [RCV001725122]|not specified [RCV000037334] Chr6:112172772 [GRCh38]
Chr6:112493974 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) single nucleotide variant Cardiomyopathy [RCV000853005]|Cardiovascular phenotype [RCV000620922]|Dilated cardiomyopathy 1JJ [RCV001082708]|not provided [RCV000171982]|not specified [RCV000037335] Chr6:112172687 [GRCh38]
Chr6:112493889 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.1492T>C (p.Tyr498His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000613603]|not specified [RCV000037336] Chr6:112172670 [GRCh38]
Chr6:112493872 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) single nucleotide variant Cardiomyopathy [RCV000770220]|Cardiovascular phenotype [RCV000620865]|Dilated cardiomyopathy 1JJ [RCV000206650]|Hypertrophic cardiomyopathy [RCV000853004]|not provided [RCV000172551]|not specified [RCV000037337] Chr6:112165195 [GRCh38]
Chr6:112486397 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.1674G>A (p.Ala558=) single nucleotide variant Cardiovascular phenotype [RCV002399373]|Dilated cardiomyopathy 1JJ [RCV000460721]|not provided [RCV000858810]|not specified [RCV000037338] Chr6:112158875 [GRCh38]
Chr6:112480077 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1710T>C (p.Ser570=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001521082]|not specified [RCV000037339] Chr6:112158839 [GRCh38]
Chr6:112480041 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1922C>G (p.Ala641Gly) single nucleotide variant not specified [RCV000037340] Chr6:112155602 [GRCh38]
Chr6:112476804 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+4_195+5del deletion not specified [RCV000037341] Chr6:112253951..112253952 [GRCh38]
Chr6:112575153..112575154 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.196-12T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000604102]|not specified [RCV000037342] Chr6:112216481 [GRCh38]
Chr6:112537682 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.196-15G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002054655]|not provided [RCV001701576]|not specified [RCV000037343] Chr6:112216484 [GRCh38]
Chr6:112537685 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.196-9C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000228374]|not provided [RCV001727527]|not specified [RCV000037344] Chr6:112216478 [GRCh38]
Chr6:112537679 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.1999G>T (p.Asp667Tyr) single nucleotide variant Cardiovascular phenotype [RCV000618883]|Dilated cardiomyopathy 1JJ [RCV000864051]|Primary dilated cardiomyopathy [RCV000157276]|not specified [RCV000037345] Chr6:112154908 [GRCh38]
Chr6:112476110 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2026G>A (p.Ala676Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001852773]|not specified [RCV000037346] Chr6:112154881 [GRCh38]
Chr6:112476083 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2056+12C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003114216]|not specified [RCV000037347] Chr6:112154839 [GRCh38]
Chr6:112476041 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2090G>A (p.Arg697His) single nucleotide variant Cardiovascular phenotype [RCV000621421]|Dilated cardiomyopathy 1JJ [RCV000693225]|not provided [RCV002280096]|not specified [RCV000037348] Chr6:112150594 [GRCh38]
Chr6:112471796 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) single nucleotide variant Cardiomyopathy [RCV000770214]|Cardiovascular phenotype [RCV000618226]|Dilated cardiomyopathy 1JJ [RCV000528892]|LAMA4-related condition [RCV003924918]|Primary dilated cardiomyopathy [RCV000853135]|not provided [RCV000172550]|not specified [RCV000037349] Chr6:112150513 [GRCh38]
Chr6:112471715 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.2493+15G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002054656]|not provided [RCV001703879]|not specified [RCV000037350] Chr6:112144779 [GRCh38]
Chr6:112465981 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.2577G>A (p.Thr859=) single nucleotide variant Cardiovascular phenotype [RCV002453312]|Dilated cardiomyopathy 1JJ [RCV002054657]|LAMA4-related condition [RCV003904916]|not specified [RCV000037351] Chr6:112142209 [GRCh38]
Chr6:112463411 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2640G>T (p.Gln880His) single nucleotide variant not specified [RCV000037352] Chr6:112142146 [GRCh38]
Chr6:112463348 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.264C>T (p.Ser88=) single nucleotide variant Cardiomyopathy [RCV000769212]|Cardiovascular phenotype [RCV000618264]|Dilated cardiomyopathy 1JJ [RCV000611665]|not provided [RCV001577901]|not specified [RCV000037353] Chr6:112216401 [GRCh38]
Chr6:112537602 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2810A>G (p.Glu937Gly) single nucleotide variant Cardiovascular phenotype [RCV000246758]|Dilated cardiomyopathy 1JJ [RCV000472840]|Primary dilated cardiomyopathy [RCV000853003]|not specified [RCV000037354] Chr6:112141361 [GRCh38]
Chr6:112462563 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.279C>T (p.Asp93=) single nucleotide variant Cardiovascular phenotype [RCV002433501]|Dilated cardiomyopathy 1JJ [RCV000471271]|not specified [RCV000037355] Chr6:112216386 [GRCh38]
Chr6:112537587 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.280G>A (p.Gly94Ser) single nucleotide variant Cardiomyopathy [RCV000769211]|Dilated cardiomyopathy 1JJ [RCV000472707]|not specified [RCV000037356] Chr6:112216385 [GRCh38]
Chr6:112537586 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2940A>C (p.Thr980=) single nucleotide variant Cardiovascular phenotype [RCV003162324]|Dilated cardiomyopathy 1JJ [RCV001437568]|not specified [RCV000037357] Chr6:112140796 [GRCh38]
Chr6:112461998 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000865563]|not provided [RCV001534592]|not specified [RCV000037358] Chr6:112140786 [GRCh38]
Chr6:112461988 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.297+8G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000467534]|LAMA4-related condition [RCV003934907]|not provided [RCV001725945]|not specified [RCV000037359] Chr6:112216360 [GRCh38]
Chr6:112537561 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.3003C>T (p.Gly1001=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001504171]|not specified [RCV000037360] Chr6:112139859 [GRCh38]
Chr6:112461061 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3175G>A (p.Val1059Met) single nucleotide variant Cardiomyopathy [RCV000769196]|Cardiovascular phenotype [RCV000618915]|Dilated cardiomyopathy 1JJ [RCV001088319]|Premature ventricular contraction [RCV001781353]|not provided [RCV000171974]|not specified [RCV000037361] Chr6:112139227 [GRCh38]
Chr6:112460429 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.3239G>A (p.Arg1080Gln) single nucleotide variant Cardiomyopathy [RCV000769195]|Dilated cardiomyopathy 1JJ [RCV000226356]|not provided [RCV003430645]|not specified [RCV000037362] Chr6:112139163 [GRCh38]
Chr6:112460365 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.3283-15C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000602185]|not specified [RCV000037363] Chr6:112136269 [GRCh38]
Chr6:112457471 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000616715]|not specified [RCV000037364] Chr6:112136188 [GRCh38]
Chr6:112457390 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3356C>G (p.Pro1119Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000609763]|not specified [RCV000037365] Chr6:112136181 [GRCh38]
Chr6:112457383 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.3558-7T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000866357]|LAMA4-related condition [RCV003944909]|not provided [RCV001711120]|not specified [RCV000037366] Chr6:112133494 [GRCh38]
Chr6:112454696 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3834G>A (p.Gly1278=) single nucleotide variant Cardiomyopathy [RCV001170688]|Cardiovascular phenotype [RCV000620617]|Dilated cardiomyopathy 1JJ [RCV000531872]|LAMA4-related condition [RCV003964850]|not specified [RCV000037367] Chr6:112132753 [GRCh38]
Chr6:112453955 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) single nucleotide variant Cardiomyopathy [RCV001170687]|Cardiovascular phenotype [RCV000249774]|Dilated cardiomyopathy 1JJ [RCV001088170]|not provided [RCV000171971]|not specified [RCV000037368] Chr6:112130993 [GRCh38]
Chr6:112452195 [GRCh37]
Chr6:6q21		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) single nucleotide variant Cardiomyopathy [RCV000769194]|Dilated cardiomyopathy 1JJ [RCV000229200]|not specified [RCV000037369] Chr6:112129944 [GRCh38]
Chr6:112451146 [GRCh37]
Chr6:6q21		 benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.4168C>T (p.Arg1390Trp) single nucleotide variant Cardiovascular phenotype [RCV003372606]|Dilated cardiomyopathy 1JJ [RCV000651434]|not provided [RCV000171970]|not specified [RCV000037370] Chr6:112129041 [GRCh38]
Chr6:112450243 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) single nucleotide variant Cardiomyopathy [RCV000769193]|Dilated cardiomyopathy 1JJ [RCV000203919]|not specified [RCV000037371] Chr6:112129036 [GRCh38]
Chr6:112450238 [GRCh37]
Chr6:6q21		 benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.423-10C>T single nucleotide variant Cardiomyopathy [RCV000769210]|Dilated cardiomyopathy 1JJ [RCV000477616]|not specified [RCV000037372] Chr6:112201698 [GRCh38]
Chr6:112522899 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.423-4T>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000458020]|not specified [RCV000037373] Chr6:112201692 [GRCh38]
Chr6:112522893 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4287+15C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000610133]|not specified [RCV000037374] Chr6:112128907 [GRCh38]
Chr6:112450109 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4314A>C (p.Ser1438=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000469524]|not provided [RCV003421949]|not specified [RCV000037375] Chr6:112122175 [GRCh38]
Chr6:112443378 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4386C>T (p.Ser1462=) single nucleotide variant Cardiovascular phenotype [RCV002326737]|Dilated cardiomyopathy 1JJ [RCV002513476]|not specified [RCV000037376] Chr6:112122103 [GRCh38]
Chr6:112443306 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4436G>A (p.Arg1479His) single nucleotide variant Cardiovascular phenotype [RCV002326738]|Dilated cardiomyopathy 1JJ [RCV000651444]|LAMA4-related condition [RCV003904917]|not provided [RCV001762115]|not specified [RCV000037377] Chr6:112122053 [GRCh38]
Chr6:112443256 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.4446T>G (p.Phe1482Leu) single nucleotide variant not specified [RCV000037378] Chr6:112122043 [GRCh38]
Chr6:112443246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4476-3C>A single nucleotide variant not specified [RCV000037379] Chr6:112120475 [GRCh38]
Chr6:112441678 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.460C>T (p.Arg154Trp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001511449]|not specified [RCV000037380] Chr6:112201651 [GRCh38]
Chr6:112522852 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4646A>G (p.Asn1549Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000469667]|not provided [RCV001723614]|not specified [RCV000037381] Chr6:112120302 [GRCh38]
Chr6:112441505 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4679G>A (p.Arg1560Gln) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001852774]|not specified [RCV000037382] Chr6:112119298 [GRCh38]
Chr6:112440501 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4691G>T (p.Ser1564Ile) single nucleotide variant Cardiomyopathy [RCV001170142]|Cardiovascular phenotype [RCV002336127]|Dilated cardiomyopathy 1JJ [RCV000206410]|not provided [RCV001703880]|not specified [RCV000037383] Chr6:112119286 [GRCh38]
Chr6:112440489 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.4716C>T (p.Leu1572=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000462131]|not specified [RCV000037384] Chr6:112119261 [GRCh38]
Chr6:112440464 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4822-3C>T single nucleotide variant Cardiovascular phenotype [RCV000251598]|Dilated cardiomyopathy 1JJ [RCV000233186]|not provided [RCV001703881]|not specified [RCV000037385] Chr6:112117901 [GRCh38]
Chr6:112439104 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4852C>T (p.Leu1618Phe) single nucleotide variant Cardiomyopathy [RCV000769189]|Cardiovascular phenotype [RCV002336128]|Dilated cardiomyopathy 1JJ [RCV000545918]|LAMA4-related condition [RCV003944910]|not provided [RCV001551589]|not specified [RCV000037386] Chr6:112117868 [GRCh38]
Chr6:112439071 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.486T>C (p.Ala162=) single nucleotide variant Cardiomyopathy [RCV000769209]|Cardiovascular phenotype [RCV000617194]|Dilated cardiomyopathy 1JJ [RCV000865924]|not provided [RCV001727528]|not specified [RCV000037387] Chr6:112201625 [GRCh38]
Chr6:112522826 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) single nucleotide variant Cardiomyopathy [RCV000769187]|Dilated cardiomyopathy 1JJ [RCV000459045]|not specified [RCV000037388] Chr6:112115959 [GRCh38]
Chr6:112437162 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.5160T>A (p.Val1720=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000603056]|not specified [RCV000037389] Chr6:112114709 [GRCh38]
Chr6:112435912 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) single nucleotide variant Cardiovascular phenotype [RCV000249046]|Dilated cardiomyopathy 1JJ [RCV000475120]|LAMA4-related condition [RCV003952430]|not provided [RCV001699186]|not specified [RCV000037390] Chr6:112191840 [GRCh38]
Chr6:112513042 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.521A>G (p.Tyr174Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000794430]|LAMA4-related condition [RCV003415772]|not provided [RCV000171986]|not specified [RCV000037391] Chr6:112191833 [GRCh38]
Chr6:112513035 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5270C>T (p.Pro1757Leu) single nucleotide variant Cardiovascular phenotype [RCV002345293]|Dilated cardiomyopathy 1JJ [RCV000765865]|LAMA4-related condition [RCV003944911]|not provided [RCV001563383]|not specified [RCV000037392] Chr6:112114132 [GRCh38]
Chr6:112435335 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.5326+15A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000601243]|not specified [RCV000037393] Chr6:112114061 [GRCh38]
Chr6:112435264 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5326+6T>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000606249]|not specified [RCV000037394] Chr6:112114070 [GRCh38]
Chr6:112435273 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=) single nucleotide variant Cardiomyopathy [RCV000769207]|Dilated cardiomyopathy 1JJ [RCV001001873]|not specified [RCV000037395] Chr6:112191823 [GRCh38]
Chr6:112513025 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile) single nucleotide variant Cardiomyopathy [RCV000769185]|Dilated cardiomyopathy 1JJ [RCV000463999]|not provided [RCV001719742]|not specified [RCV000037396] Chr6:112109466 [GRCh38]
Chr6:112430669 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.651C>T (p.Thr217=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001511159]|not specified [RCV000037397] Chr6:112191703 [GRCh38]
Chr6:112512905 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) single nucleotide variant Cardiovascular phenotype [RCV002444480]|Dilated cardiomyopathy 1JJ [RCV000227416]|LAMA4-related condition [RCV003944912]|not provided [RCV001705673]|not specified [RCV000037398] Chr6:112187553 [GRCh38]
Chr6:112508755 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000231375]|not provided [RCV001531017]|not specified [RCV000037399] Chr6:112187528 [GRCh38]
Chr6:112508730 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.921T>G (p.Ala307=) single nucleotide variant Cardiomyopathy [RCV001170698]|Cardiovascular phenotype [RCV002371829]|Dilated cardiomyopathy 1JJ [RCV000540778]|not provided [RCV001725946]|not specified [RCV000037400] Chr6:112187495 [GRCh38]
Chr6:112508697 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.924T>C (p.His308=) single nucleotide variant Cardiomyopathy [RCV000769200]|Dilated cardiomyopathy 1JJ [RCV000233966]|LAMA4-related condition [RCV003934908]|not provided [RCV001727529]|not specified [RCV000037401] Chr6:112187492 [GRCh38]
Chr6:112508694 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
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
NM_002290.4(LAMA4):c.2359C>T (p.Gln787Ter) single nucleotide variant Malignant melanoma [RCV000067074] Chr6:112144907 [GRCh38]
Chr6:112466109 [GRCh37]
Chr6:112572802 [NCBI36]
Chr6:6q21		 not provided
NM_002290.4(LAMA4):c.1657G>A (p.Gly553Arg) single nucleotide variant Malignant melanoma [RCV000067075] Chr6:112158871 [GRCh38]
Chr6:112480073 [GRCh37]
Chr6:112586766 [NCBI36]
Chr6:6q21		 not provided
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) single nucleotide variant Cardiovascular phenotype [RCV002336277]|Dilated cardiomyopathy 1JJ [RCV000555898]|not provided [RCV001705916]|not specified [RCV000154744] Chr6:112201655 [GRCh38]
Chr6:112522856 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.848= (p.Asp283=) single nucleotide variant Cardiovascular phenotype [RCV000619906]|Dilated cardiomyopathy 1JJ [RCV002055656]|not specified [RCV000172753] Chr6:112187568 [GRCh38]
Chr6:112508770 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.849= (p.Asp283=) single nucleotide variant Cardiovascular phenotype [RCV000617248]|Dilated cardiomyopathy 1JJ [RCV002055657]|not specified [RCV000154630] Chr6:112187567 [GRCh38]
Chr6:112508769 [GRCh37]
Chr6:6q21		 benign|not provided
NM_001105206.3(LAMA4):c.1854G>A (p.Gln618=) single nucleotide variant Cardiomyopathy [RCV001170695]|Cardiovascular phenotype [RCV002408632]|Dilated cardiomyopathy 1JJ [RCV002055658]|not specified [RCV000126553] Chr6:112155670 [GRCh38]
Chr6:112476872 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.74C>T (p.Ala25Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001312978] Chr6:112254077 [GRCh38]
Chr6:112575279 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.297+2368G>A single nucleotide variant not specified [RCV000172754] Chr6:112214000 [GRCh38]
Chr6:112535201 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.195+71_195+73del deletion Dilated cardiomyopathy 1JJ [RCV003227689]|not provided [RCV000171987] Chr6:112253883..112253885 [GRCh38]
Chr6:112575085..112575087 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1087G>C (p.Ala363Pro) single nucleotide variant not provided [RCV000171983] Chr6:112178223 [GRCh38]
Chr6:112499425 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.832T>C (p.Trp278Arg) single nucleotide variant not provided [RCV000171984] Chr6:112187584 [GRCh38]
Chr6:112508786 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.676C>T (p.Pro226Ser) single nucleotide variant Cardiovascular phenotype [RCV002362879]|Dilated cardiomyopathy 1JJ [RCV002492718]|not provided [RCV000171985] Chr6:112191678 [GRCh38]
Chr6:112512880 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5437G>A (p.Gly1813Ser) single nucleotide variant Cardiomyopathy [RCV000769186]|Dilated cardiomyopathy 1JJ [RCV000692677]|not provided [RCV000171966] Chr6:112109472 [GRCh38]
Chr6:112430675 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5369C>T (p.Thr1790Ile) single nucleotide variant not provided [RCV000171967] Chr6:112109540 [GRCh38]
Chr6:112430743 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4328C>T (p.Ala1443Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001852088]|not provided [RCV000171969] Chr6:112122161 [GRCh38]
Chr6:112443364 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3585T>A (p.Asp1195Glu) single nucleotide variant Cardiovascular phenotype [RCV002453595]|not provided [RCV000171972] Chr6:112133460 [GRCh38]
Chr6:112454662 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3074A>G (p.Tyr1025Cys) single nucleotide variant not provided [RCV000171975] Chr6:112139788 [GRCh38]
Chr6:112460990 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3026C>A (p.Ala1009Asp) single nucleotide variant Cardiovascular phenotype [RCV003298209]|not provided [RCV000171977] Chr6:112139836 [GRCh38]
Chr6:112461038 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2912C>T (p.Ser971Phe) single nucleotide variant Cardiovascular phenotype [RCV003298210]|Dilated cardiomyopathy 1JJ [RCV003741153]|not provided [RCV000171978] Chr6:112140824 [GRCh38]
Chr6:112462026 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2177A>T (p.Asp726Val) single nucleotide variant Cardiovascular phenotype [RCV003165357]|not provided [RCV000171980] Chr6:112148333 [GRCh38]
Chr6:112469535 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1858G>A (p.Ala620Thr) single nucleotide variant Cardiovascular phenotype [RCV002408746]|Dilated cardiomyopathy 1JJ [RCV001852089]|not provided [RCV000171981] Chr6:112155666 [GRCh38]
Chr6:112476868 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2398C>T (p.Arg800Cys) single nucleotide variant Cardiovascular phenotype [RCV002453602]|Dilated cardiomyopathy 1JJ [RCV000600227]|Wolff-Parkinson-White pattern [RCV000656168]|not provided [RCV000172549] Chr6:112144889 [GRCh38]
Chr6:112466091 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.1277T>C (p.Met426Thr) single nucleotide variant Cardiovascular phenotype [RCV002415738]|Dilated cardiomyopathy 1JJ [RCV000707706]|Primary familial hypertrophic cardiomyopathy [RCV000624643]|not provided [RCV000172552] Chr6:112175393 [GRCh38]
Chr6:112496595 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) single nucleotide variant Cardiomyopathy [RCV001170905]|Cardiovascular phenotype [RCV002362889]|Dilated cardiomyopathy 1JJ [RCV000550802]|not provided [RCV000172553] Chr6:112191686 [GRCh38]
Chr6:112512888 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) single nucleotide variant Cardiomyopathy [RCV000770218]|Cardiovascular phenotype [RCV002399630]|Dilated cardiomyopathy 1JJ [RCV000535614]|not provided [RCV000724410]|not specified [RCV000197506] Chr6:112158876 [GRCh38]
Chr6:112480078 [GRCh37]
Chr6:6q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.4708G>T (p.Asp1570Tyr) single nucleotide variant Cardiovascular phenotype [RCV002326944]|Dilated cardiomyopathy 1JJ [RCV001205884]|not provided [RCV000171968]|not specified [RCV000200378] Chr6:112119269 [GRCh38]
Chr6:112440472 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3322C>T (p.His1108Tyr) single nucleotide variant not provided [RCV000171973] Chr6:112136215 [GRCh38]
Chr6:112457417 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3029C>T (p.Thr1010Ile) single nucleotide variant Cardiovascular phenotype [RCV002433747]|Dilated cardiomyopathy 1JJ [RCV002516566]|not provided [RCV000171976] Chr6:112139833 [GRCh38]
Chr6:112461035 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q21(chr6:111948842-112906602)x3 copy number gain See cases [RCV000134931] Chr6:111948842..112906602 [GRCh38]
Chr6:112270045..113227804 [GRCh37]
Chr6:112376738..113334497 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1 copy number loss See cases [RCV000138006] Chr6:107370141..115827482 [GRCh38]
Chr6:107691345..116148646 [GRCh37]
Chr6:107798038..116255339 [NCBI36]
Chr6:6q21-22.1		 pathogenic
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 6q16.1-22.31(chr6:96609994-122161548)x1 copy number loss See cases [RCV000139465] Chr6:96609994..122161548 [GRCh38]
Chr6:97057870..122482694 [GRCh37]
Chr6:97164591..122524393 [NCBI36]
Chr6:6q16.1-22.31		 pathogenic
GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1 copy number loss See cases [RCV000141587] Chr6:106503719..125781219 [GRCh38]
Chr6:106951594..126102365 [GRCh37]
Chr6:107058287..126144058 [NCBI36]
Chr6:6q21-22.31		 pathogenic
GRCh38/hg38 6q21(chr6:112010915-112244218)x1 copy number loss See cases [RCV000141793] Chr6:112010915..112244218 [GRCh38]
Chr6:112332118..112565420 [GRCh37]
Chr6:112438811..112672113 [NCBI36]
Chr6:6q21		 uncertain significance
GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1 copy number loss See cases [RCV000142287] Chr6:103279465..113934239 [GRCh38]
Chr6:103727340..114255403 [GRCh37]
Chr6:103834033..114362096 [NCBI36]
Chr6:6q16.3-21		 pathogenic
GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1 copy number loss See cases [RCV000143227] Chr6:100054889..120488154 [GRCh38]
Chr6:100502765..120809300 [GRCh37]
Chr6:100609486..120850999 [NCBI36]
Chr6:6q16.3-22.31		 pathogenic
NM_001105206.3(LAMA4):c.4405G>A (p.Ala1469Thr) single nucleotide variant Cardiomyopathy [RCV000769192]|Cardiovascular phenotype [RCV002326887]|Dilated cardiomyopathy 1JJ [RCV001241749]|not specified [RCV000155773] Chr6:112122084 [GRCh38]
Chr6:112443287 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1988T>C (p.Ile663Thr) single nucleotide variant Cardiovascular phenotype [RCV002415674]|Dilated cardiomyopathy 1JJ [RCV001515854]|not specified [RCV000156264] Chr6:112154919 [GRCh38]
Chr6:112476121 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2215G>A (p.Glu739Lys) single nucleotide variant Cardiovascular phenotype [RCV002426756]|Dilated cardiomyopathy 1JJ [RCV001850154]|not specified [RCV000156330] Chr6:112148295 [GRCh38]
Chr6:112469497 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2758G>A (p.Asp920Asn) single nucleotide variant not specified [RCV000150901] Chr6:112141413 [GRCh38]
Chr6:112462615 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.412C>T (p.His138Tyr) single nucleotide variant Cardiovascular phenotype [RCV002326862]|Dilated cardiomyopathy 1JJ [RCV001244791]|not provided [RCV001762331]|not specified [RCV000150905] Chr6:112207031 [GRCh38]
Chr6:112528232 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.267C>T (p.Asn89=) single nucleotide variant Cardiovascular phenotype [RCV002426714]|Dilated cardiomyopathy 1JJ [RCV001437614]|not specified [RCV000150906] Chr6:112216398 [GRCh38]
Chr6:112537599 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.140C>T (p.Pro47Leu) single nucleotide variant Cardiovascular phenotype [RCV002390321]|not specified [RCV000150908] Chr6:112254011 [GRCh38]
Chr6:112575213 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.106A>G (p.Ile36Val) single nucleotide variant Cardiovascular phenotype [RCV002408666]|not provided [RCV003332126]|not specified [RCV000150909] Chr6:112254045 [GRCh38]
Chr6:112575247 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.4476-4C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001414337]|not specified [RCV000156469] Chr6:112120476 [GRCh38]
Chr6:112441679 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2782C>A (p.Pro928Thr) single nucleotide variant not specified [RCV000156587] Chr6:112141389 [GRCh38]
Chr6:112462591 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3087C>T (p.Pro1029=) single nucleotide variant Cardiovascular phenotype [RCV002444636]|Dilated cardiomyopathy 1JJ [RCV000229893]|not provided [RCV001535361]|not specified [RCV000154629] Chr6:112139775 [GRCh38]
Chr6:112460977 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000853180]|Cardiomyopathy [RCV000770215]|Cardiovascular phenotype [RCV000617800]|Dilated cardiomyopathy 1JJ [RCV000460131]|LAMA4-related condition [RCV003952761]|not provided [RCV001699045]|not specified [RCV000154646] Chr6:112155565 [GRCh38]
Chr6:112476767 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) indel Cardiovascular phenotype [RCV002426742]|Dilated cardiomyopathy 1JJ [RCV000860751]|not specified [RCV000154649] Chr6:112187567..112187568 [GRCh38]
Chr6:112508769..112508770 [GRCh37]
Chr6:6q21		 benign|not provided
NM_001105206.3(LAMA4):c.5450T>C (p.Ile1817Thr) single nucleotide variant Cardiomyopathy [RCV001170141]|Cardiovascular phenotype [RCV000621912]|Dilated cardiomyopathy 1JJ [RCV000651453]|LAMA4-related condition [RCV003927493]|not provided [RCV001528550]|not specified [RCV000154730] Chr6:112109459 [GRCh38]
Chr6:112430662 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.5442C>T (p.Ala1814=) single nucleotide variant Cardiovascular phenotype [RCV002345500]|Dilated cardiomyopathy 1JJ [RCV000651458]|LAMA4-related condition [RCV003907461]|not specified [RCV000154732] Chr6:112109467 [GRCh38]
Chr6:112430670 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4665+15G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002056058]|not specified [RCV000154733] Chr6:112120268 [GRCh38]
Chr6:112441471 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) single nucleotide variant Cardiovascular phenotype [RCV002345501]|Dilated cardiomyopathy 1JJ [RCV001087342]|LAMA4-related condition [RCV003945218]|not provided [RCV000767119]|not specified [RCV000154734] Chr6:112109565 [GRCh38]
Chr6:112430768 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.4665+8G>T single nucleotide variant Cardiomyopathy [RCV001170143]|Dilated cardiomyopathy 1JJ [RCV000468459]|not provided [RCV001706028]|not specified [RCV000154735] Chr6:112120275 [GRCh38]
Chr6:112441478 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.4645A>T (p.Asn1549Tyr) single nucleotide variant Cardiomyopathy [RCV000769190]|Cardiovascular phenotype [RCV000620294]|Dilated cardiomyopathy 1JJ [RCV000544704]|Primary familial hypertrophic cardiomyopathy [RCV000853127]|not provided [RCV000767118]|not specified [RCV000154736] Chr6:112120303 [GRCh38]
Chr6:112441506 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4626T>C (p.Ile1542=) single nucleotide variant Cardiovascular phenotype [RCV002336319]|Dilated cardiomyopathy 1JJ [RCV000651454]|not provided [RCV001589011]|not specified [RCV000154737] Chr6:112120322 [GRCh38]
Chr6:112441525 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2569G>A (p.Ala857Thr) single nucleotide variant Cardiovascular phenotype [RCV000617876]|Dilated cardiomyopathy 1JJ [RCV000605608]|not provided [RCV001699210]|not specified [RCV000154738] Chr6:112142217 [GRCh38]
Chr6:112463419 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.2225A>G (p.Asn742Ser) single nucleotide variant Cardiovascular phenotype [RCV002426745]|Dilated cardiomyopathy 1JJ [RCV000807747]|not specified [RCV000154739] Chr6:112148285 [GRCh38]
Chr6:112469487 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1668+9G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000862189]|not specified [RCV000154740] Chr6:112165151 [GRCh38]
Chr6:112486353 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) single nucleotide variant Cardiovascular phenotype [RCV000618474]|Dilated cardiomyopathy 1JJ [RCV000535258]|not provided [RCV001706029]|not specified [RCV000154741] Chr6:112185279 [GRCh38]
Chr6:112506481 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.641G>A (p.Arg214His) single nucleotide variant Cardiomyopathy [RCV000769204]|Cardiovascular phenotype [RCV000620853]|Dilated cardiomyopathy 1JJ [RCV001088178]|not provided [RCV000172554]|not specified [RCV000154742] Chr6:112191713 [GRCh38]
Chr6:112512915 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.465C>T (p.Cys155=) single nucleotide variant Cardiovascular phenotype [RCV002336320]|not specified [RCV000154743] Chr6:112201646 [GRCh38]
Chr6:112522847 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3434A>G (p.Asn1145Ser) single nucleotide variant not specified [RCV000156825] Chr6:112134590 [GRCh38]
Chr6:112455792 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4982-3del deletion Dilated cardiomyopathy 1JJ [RCV001362681]|not specified [RCV000156916] Chr6:112115996 [GRCh38]
Chr6:112437199 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) single nucleotide variant Cardiomyopathy [RCV001170693]|Cardiovascular phenotype [RCV000253511]|Dilated cardiomyopathy 1JJ [RCV000466404]|not provided [RCV000858027]|not specified [RCV000150902] Chr6:112142131 [GRCh38]
Chr6:112463333 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.2403G>A (p.Thr801=) single nucleotide variant Cardiovascular phenotype [RCV000248517]|Dilated cardiomyopathy 1JJ [RCV000549573]|LAMA4-related condition [RCV003935265]|not provided [RCV001707536]|not specified [RCV000150903] Chr6:112144884 [GRCh38]
Chr6:112466086 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) single nucleotide variant Cardiovascular phenotype [RCV002399526]|Dilated cardiomyopathy 1JJ [RCV000466599]|not provided [RCV001699128]|not specified [RCV000150904] Chr6:112165214 [GRCh38]
Chr6:112486416 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.195+144T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000611290]|LAMA4-related condition [RCV003917472]|not specified [RCV000150907] Chr6:112253812 [GRCh38]
Chr6:112575014 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.*1C>T single nucleotide variant Cardiomyopathy [RCV000769184]|Cardiovascular phenotype [RCV000620003]|not provided [RCV001719960]|not specified [RCV000154731] Chr6:112109436 [GRCh38]
Chr6:112430639 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance|not provided
NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del deletion Dysmorphic features [RCV000157073] Chr6:112511752..118037595 [GRCh37]
Chr6:6q21-22.1		 pathogenic
NM_001105206.3(LAMA4):c.631A>C (p.Asn211His) single nucleotide variant Cardiovascular phenotype [RCV002362838]|Dilated cardiomyopathy 1JJ [RCV001053445]|Primary dilated cardiomyopathy [RCV000157275] Chr6:112191723 [GRCh38]
Chr6:112512925 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2576C>T (p.Thr859Met) single nucleotide variant Catecholaminergic polymorphic ventricular tachycardia 1 [RCV000157277]|Dilated cardiomyopathy 1JJ [RCV000615846]|not provided [RCV001699135] Chr6:112142210 [GRCh38]
Chr6:112463412 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2614C>G (p.Pro872Ala) single nucleotide variant Cardiovascular phenotype [RCV002453529]|Dilated cardiomyopathy 1JJ [RCV003581580]|Primary familial hypertrophic cardiomyopathy [RCV000157278]|not provided [RCV000171979] Chr6:112142172 [GRCh38]
Chr6:112463374 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.3043G>C (p.Val1015Leu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157279]|not provided [RCV002264912] Chr6:112139819 [GRCh38]
Chr6:112461021 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3506C>T (p.Pro1169Leu) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000157280]|Cardiovascular phenotype [RCV002453530]|Dilated cardiomyopathy 1JJ [RCV001370376]|not provided [RCV001698980] Chr6:112134518 [GRCh38]
Chr6:112455720 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.814+7A>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157281] Chr6:112189103 [GRCh38]
Chr6:112510305 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) single nucleotide variant Cardiovascular phenotype [RCV000249058]|Dilated cardiomyopathy 1JJ [RCV000557106]|LAMA4-related condition [RCV003895196]|not provided [RCV000724815]|not specified [RCV000223049] Chr6:112119299 [GRCh38]
Chr6:112440502 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.1551+8G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001523058]|not specified [RCV000200252] Chr6:112172603 [GRCh38]
Chr6:112493805 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1436A>T (p.Asp479Val) single nucleotide variant Cardiovascular phenotype [RCV002390518]|Dilated cardiomyopathy 1JJ [RCV000231676]|not provided [RCV000200470] Chr6:112172726 [GRCh38]
Chr6:112493928 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2734A>T (p.Thr912Ser) single nucleotide variant Cardiovascular phenotype [RCV002426931]|Dilated cardiomyopathy 1JJ [RCV003741158]|not specified [RCV000200621] Chr6:112141437 [GRCh38]
Chr6:112462639 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.370G>C (p.Gly124Arg) single nucleotide variant not provided [RCV000200696] Chr6:112207073 [GRCh38]
Chr6:112528274 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.967-5T>G single nucleotide variant Cardiovascular phenotype [RCV002444795]|not provided [RCV000196880] Chr6:112185352 [GRCh38]
Chr6:112506554 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) single nucleotide variant Cardiomyopathy [RCV000770216]|Cardiovascular phenotype [RCV002408869]|Dilated cardiomyopathy 1JJ [RCV001001266]|not provided [RCV001706176]|not specified [RCV000200718] Chr6:112155703 [GRCh38]
Chr6:112476905 [GRCh37]
Chr6:6q21		 likely pathogenic|benign|likely benign
NM_001105206.3(LAMA4):c.2250G>A (p.Gln750=) single nucleotide variant Cardiovascular phenotype [RCV000620069]|Dilated cardiomyopathy 1JJ [RCV000232358]|not specified [RCV000200865] Chr6:112148260 [GRCh38]
Chr6:112469462 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1613C>T (p.Ala538Val) single nucleotide variant Cardiovascular phenotype [RCV003165448]|Dilated cardiomyopathy 1JJ [RCV001351209]|not provided [RCV003441776] Chr6:112165215 [GRCh38]
Chr6:112486417 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.620G>A (p.Gly207Asp) single nucleotide variant not provided [RCV000197110] Chr6:112191734 [GRCh38]
Chr6:112512936 [GRCh37]
Chr6:6q21		 likely pathogenic
NM_001105206.3(LAMA4):c.5309T>C (p.Phe1770Ser) single nucleotide variant Cardiovascular phenotype [RCV002345706]|not provided [RCV000197244] Chr6:112114093 [GRCh38]
Chr6:112435296 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.2342C>A (p.Ala781Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001857721]|not provided [RCV000197420] Chr6:112148168 [GRCh38]
Chr6:112469370 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.674C>T (p.Ala225Val) single nucleotide variant Cardiomyopathy [RCV000853007]|Cardiovascular phenotype [RCV002372173]|Dilated cardiomyopathy 1JJ [RCV000526813]|not provided [RCV001699000]|not specified [RCV000197622] Chr6:112191680 [GRCh38]
Chr6:112512882 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3122C>G (p.Ala1041Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001371398]|not provided [RCV000197744] Chr6:112139280 [GRCh38]
Chr6:112460482 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.3054G>T (p.Leu1018Phe) single nucleotide variant Cardiomyopathy [RCV000769198]|Cardiovascular phenotype [RCV000246907]|Dilated cardiomyopathy 1JJ [RCV000225909]|not provided [RCV000767116]|not specified [RCV000197877] Chr6:112139808 [GRCh38]
Chr6:112461010 [GRCh37]
Chr6:6q21		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.2141A>G (p.Asp714Gly) single nucleotide variant not provided [RCV000197962] Chr6:112150543 [GRCh38]
Chr6:112471745 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1420G>A (p.Val474Ile) single nucleotide variant Cardiovascular phenotype [RCV002390517]|Dilated cardiomyopathy 1JJ [RCV000651432]|not provided [RCV000198232] Chr6:112172742 [GRCh38]
Chr6:112493944 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4150G>A (p.Glu1384Lys) single nucleotide variant not provided [RCV000198368] Chr6:112129059 [GRCh38]
Chr6:112450261 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1719A>G (p.Gln573=) single nucleotide variant not specified [RCV000198479] Chr6:112158830 [GRCh38]
Chr6:112480032 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4583G>A (p.Arg1528His) single nucleotide variant Cardiovascular phenotype [RCV000621022]|Dilated cardiomyopathy 1JJ [RCV000651437]|not provided [RCV000198503] Chr6:112120365 [GRCh38]
Chr6:112441568 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) single nucleotide variant Cardiovascular phenotype [RCV000622019]|Dilated cardiomyopathy 1JJ [RCV001522148]|not provided [RCV000547478]|not specified [RCV000198603] Chr6:112254066 [GRCh38]
Chr6:112575268 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.503G>A (p.Arg168Lys) single nucleotide variant Cardiovascular phenotype [RCV002345707]|Dilated cardiomyopathy 1JJ [RCV000456903]|not provided [RCV000198801] Chr6:112201608 [GRCh38]
Chr6:112522809 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5340A>G (p.Thr1780=) single nucleotide variant Cardiovascular phenotype [RCV000619313]|Dilated cardiomyopathy 1JJ [RCV000467618]|not specified [RCV000195454] Chr6:112109569 [GRCh38]
Chr6:112430772 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser) single nucleotide variant Cardiovascular phenotype [RCV002444793]|Dilated cardiomyopathy 1JJ [RCV001857720]|not provided [RCV001698999] Chr6:112136226 [GRCh38]
Chr6:112457428 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr) single nucleotide variant Cardiovascular phenotype [RCV002453721]|Dilated cardiomyopathy 1JJ [RCV001037706]|not provided [RCV000198964] Chr6:112142187 [GRCh38]
Chr6:112463389 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1318C>T (p.Arg440Trp) single nucleotide variant Cardiovascular phenotype [RCV002381671]|not provided [RCV000199104] Chr6:112175352 [GRCh38]
Chr6:112496554 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3122C>A (p.Ala1041Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002515366]|not provided [RCV000195521] Chr6:112139280 [GRCh38]
Chr6:112460482 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.719-2A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741159]|not provided [RCV000199252] Chr6:112189207 [GRCh38]
Chr6:112510409 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5207-14G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000613289]|not specified [RCV000199341] Chr6:112114209 [GRCh38]
Chr6:112435412 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.2779T>G (p.Trp927Gly) single nucleotide variant not provided [RCV000195739] Chr6:112141392 [GRCh38]
Chr6:112462594 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.1131del (p.Ile378fs) deletion not provided [RCV000195824] Chr6:112178179 [GRCh38]
Chr6:112499381 [GRCh37]
Chr6:6q21		 uncertain significance
NM_002290.4(LAMA4):c.3089G>A (p.Arg1030Gln) single nucleotide variant not specified [RCV000199514] Chr6:112139752 [GRCh38]
Chr6:112460954 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.928C>G (p.His310Asp) single nucleotide variant Cardiomyopathy [RCV000770225]|Cardiovascular phenotype [RCV002444794]|Dilated cardiomyopathy 1JJ [RCV001303761]|not provided [RCV000196027] Chr6:112187488 [GRCh38]
Chr6:112508690 [GRCh37]
Chr6:6q21		 likely pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.3245C>T (p.Pro1082Leu) single nucleotide variant Cardiovascular phenotype [RCV003165449]|Dilated cardiomyopathy 1JJ [RCV000463887]|not provided [RCV000196154] Chr6:112139157 [GRCh38]
Chr6:112460359 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5444dup (p.Ser1816fs) duplication Cardiovascular phenotype [RCV003298257]|Dilated cardiomyopathy 1JJ [RCV000686019]|not specified [RCV000199730] Chr6:112109464..112109465 [GRCh38]
Chr6:112430667..112430668 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.829G>A (p.Val277Ile) single nucleotide variant Cardiovascular phenotype [RCV002415840]|Dilated cardiomyopathy 1JJ [RCV000801786]|not provided [RCV000199762] Chr6:112187587 [GRCh38]
Chr6:112508789 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.5030G>A (p.Arg1677His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002517181]|not provided [RCV000196258] Chr6:112115945 [GRCh38]
Chr6:112437148 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.141G>A (p.Pro47=) single nucleotide variant Cardiovascular phenotype [RCV002390516]|Dilated cardiomyopathy 1JJ [RCV000869333]|LAMA4-related condition [RCV003947624]|not specified [RCV000196264] Chr6:112254010 [GRCh38]
Chr6:112575212 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.422+20G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002054303]|not specified [RCV000199984] Chr6:112207001 [GRCh38]
Chr6:112528202 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.3136C>G (p.Arg1046Gly) single nucleotide variant not provided [RCV000200059] Chr6:112139266 [GRCh38]
Chr6:112460468 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3055T>C (p.Tyr1019His) single nucleotide variant Cardiovascular phenotype [RCV000620435]|Dilated cardiomyopathy 1JJ [RCV001088832]|not provided [RCV000200106] Chr6:112139807 [GRCh38]
Chr6:112461009 [GRCh37]
Chr6:6q21		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.5005A>G (p.Lys1669Glu) single nucleotide variant Cardiovascular phenotype [RCV000618891]|Dilated cardiomyopathy 1JJ [RCV001344620]|not provided [RCV000200149] Chr6:112115970 [GRCh38]
Chr6:112437173 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1962G>A (p.Ala654=) single nucleotide variant Cardiovascular phenotype [RCV000620908]|Dilated cardiomyopathy 1JJ [RCV001484119]|Left ventricular noncompaction cardiomyopathy [RCV000208210] Chr6:112154945 [GRCh38]
Chr6:112476147 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3563T>G (p.Leu1188Arg) single nucleotide variant Cardiovascular phenotype [RCV003165508]|Dilated cardiomyopathy 1JJ [RCV001853307]|Primary familial hypertrophic cardiomyopathy [RCV000208231] Chr6:112133482 [GRCh38]
Chr6:112454684 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2189G>A (p.Arg730His) single nucleotide variant Cardiovascular phenotype [RCV002415879]|Dilated cardiomyopathy 1JJ [RCV001235492]|Primary familial hypertrophic cardiomyopathy [RCV000208398] Chr6:112148321 [GRCh38]
Chr6:112469523 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1121G>A (p.Ser374Asn) single nucleotide variant Cardiovascular phenotype [RCV003165507]|Dilated cardiomyopathy 1JJ [RCV001218181]|Primary dilated cardiomyopathy [RCV000208022] Chr6:112178189 [GRCh38]
Chr6:112499391 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2493G>A (p.Lys831=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002494543]|Primary dilated cardiomyopathy [RCV000208045] Chr6:112144794 [GRCh38]
Chr6:112465996 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1020C>T (p.Asn340=) single nucleotide variant Cardiovascular phenotype [RCV002384236]|Dilated cardiomyopathy 1JJ [RCV000525059]|LAMA4-related condition [RCV003952850]|not provided [RCV001528925]|not specified [RCV000603428] Chr6:112185294 [GRCh38]
Chr6:112506496 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4088A>G (p.Gln1363Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001064902] Chr6:112129921 [GRCh38]
Chr6:112451123 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1503T>A (p.Asp501Glu) single nucleotide variant Cardiovascular phenotype [RCV002390581]|Dilated cardiomyopathy 1JJ [RCV000689023]|not specified [RCV000221853] Chr6:112172659 [GRCh38]
Chr6:112493861 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.398C>G (p.Pro133Arg) single nucleotide variant not specified [RCV000215306] Chr6:112207045 [GRCh38]
Chr6:112528246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3819C>T (p.Phe1273=) single nucleotide variant Cardiovascular phenotype [RCV000619287]|Dilated cardiomyopathy 1JJ [RCV001429524]|not provided [RCV000866546]|not specified [RCV000222050] Chr6:112132768 [GRCh38]
Chr6:112453970 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.254A>G (p.Asn85Ser) single nucleotide variant Cardiovascular phenotype [RCV000620669]|Dilated cardiomyopathy 1JJ [RCV001460766]|not provided [RCV000866434]|not specified [RCV000222227] Chr6:112216411 [GRCh38]
Chr6:112537612 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.848_849delinsCA (p.Asp283Ala) indel Dilated cardiomyopathy 1JJ [RCV000210513] Chr6:112187567..112187568 [GRCh38]
Chr6:112508769..112508770 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1647A>C (p.Ser549=) single nucleotide variant Cardiomyopathy [RCV000770219]|Cardiovascular phenotype [RCV000618331]|Dilated cardiomyopathy 1JJ [RCV000862190]|LAMA4-related condition [RCV003955247]|not provided [RCV001727635]|not specified [RCV000213537] Chr6:112165181 [GRCh38]
Chr6:112486383 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1353C>T (p.Tyr451=) single nucleotide variant Cardiovascular phenotype [RCV002381732]|Dilated cardiomyopathy 1JJ [RCV001419218]|not provided [RCV001705193]|not specified [RCV000213618] Chr6:112175317 [GRCh38]
Chr6:112496519 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.967-15C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002054959]|not specified [RCV000215691] Chr6:112185362 [GRCh38]
Chr6:112506564 [GRCh37]
Chr6:6q21		 benign|uncertain significance
NM_001105206.3(LAMA4):c.4792G>T (p.Ala1598Ser) single nucleotide variant Cardiovascular phenotype [RCV002327088]|Dilated cardiomyopathy 1JJ [RCV000537963]|not provided [RCV001589129]|not specified [RCV000222537] Chr6:112119185 [GRCh38]
Chr6:112440388 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3897A>G (p.Lys1299=) single nucleotide variant not specified [RCV000214407] Chr6:112131039 [GRCh38]
Chr6:112452241 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3357T>G (p.Pro1119=) single nucleotide variant Cardiovascular phenotype [RCV002321831]|Dilated cardiomyopathy 1JJ [RCV003765372]|not specified [RCV000221122] Chr6:112136180 [GRCh38]
Chr6:112457382 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.392C>T (p.Pro131Leu) single nucleotide variant Cardiovascular phenotype [RCV002372218]|Dilated cardiomyopathy 1JJ [RCV002517471]|not specified [RCV000218805] Chr6:112207051 [GRCh38]
Chr6:112528252 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1189+8T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000866971]|not specified [RCV000221271] Chr6:112178113 [GRCh38]
Chr6:112499315 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4052A>G (p.Lys1351Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000694958]|not specified [RCV000218901] Chr6:112129957 [GRCh38]
Chr6:112451159 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1551+4C>T single nucleotide variant Cardiovascular phenotype [RCV002399788]|Dilated cardiomyopathy 1JJ [RCV001047203]|LAMA4-related condition [RCV003937851]|not provided [RCV001722167]|not specified [RCV000214825] Chr6:112172607 [GRCh38]
Chr6:112493809 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.3375G>A (p.Thr1125=) single nucleotide variant Cardiovascular phenotype [RCV002321832]|Dilated cardiomyopathy 1JJ [RCV001520873]|not provided [RCV001723794]|not specified [RCV000214885] Chr6:112136162 [GRCh38]
Chr6:112457364 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.997G>A (p.Ala333Thr) single nucleotide variant Cardiovascular phenotype [RCV002381733]|Dilated cardiomyopathy 1JJ [RCV000700745]|not specified [RCV000216696] Chr6:112185317 [GRCh38]
Chr6:112506519 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.343G>A (p.Asp115Asn) single nucleotide variant Cardiovascular phenotype [RCV002453760]|Dilated cardiomyopathy 1JJ [RCV000555552]|not specified [RCV000219177] Chr6:112207100 [GRCh38]
Chr6:112528301 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.5002T>C (p.Leu1668=) single nucleotide variant Cardiovascular phenotype [RCV003165527]|Dilated cardiomyopathy 1JJ [RCV000868651]|not specified [RCV000216999] Chr6:112115973 [GRCh38]
Chr6:112437176 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3166G>A (p.Gly1056Ser) single nucleotide variant Cardiovascular phenotype [RCV002321868]|Dilated cardiomyopathy 1JJ [RCV000232751]|LAMA4-related condition [RCV003897539] Chr6:112139236 [GRCh38]
Chr6:112460438 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.730G>C (p.Gly244Arg) single nucleotide variant Cardiovascular phenotype [RCV002378986]|Dilated cardiomyopathy 1JJ [RCV000233575]|LAMA4-related condition [RCV003919949]|not provided [RCV001705257] Chr6:112189194 [GRCh38]
Chr6:112510396 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1669-7del deletion Dilated cardiomyopathy 1JJ [RCV001521661]|LAMA4-related condition [RCV003907866]|not provided [RCV000226643] Chr6:112158887 [GRCh38]
Chr6:112480089 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4872T>C (p.Asn1624=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001436680] Chr6:112117848 [GRCh38]
Chr6:112439051 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.98C>G (p.Pro33Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000228939] Chr6:112254053 [GRCh38]
Chr6:112575255 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3817T>C (p.Phe1273Leu) single nucleotide variant Cardiovascular phenotype [RCV002352265]|Dilated cardiomyopathy 1JJ [RCV001855892]|LAMA4-related condition [RCV003965566]|not provided [RCV000757428] Chr6:112132770 [GRCh38]
Chr6:112453972 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.964A>C (p.Lys322Gln) single nucleotide variant Cardiovascular phenotype [RCV002442565]|Dilated cardiomyopathy 1JJ [RCV000811405]|not provided [RCV000757429] Chr6:112187452 [GRCh38]
Chr6:112508654 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1131C>T (p.Thr377=) single nucleotide variant Cardiovascular phenotype [RCV000620306] Chr6:112178179 [GRCh38]
Chr6:112499381 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2527G>C (p.Ala843Pro) single nucleotide variant Cardiovascular phenotype [RCV000620339]|Dilated cardiomyopathy 1JJ [RCV000814246] Chr6:112142259 [GRCh38]
Chr6:112463461 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.105C>G (p.Asp35Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003338673]|Hypertrophic cardiomyopathy 1 [RCV000584772]|Inborn genetic diseases [RCV003159985] Chr6:112254046 [GRCh38]
Chr6:112575248 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2850G>A (p.Pro950=) single nucleotide variant Cardiovascular phenotype [RCV002438600]|Dilated cardiomyopathy 1JJ [RCV001455478]|not specified [RCV000604615] Chr6:112140886 [GRCh38]
Chr6:112462088 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) single nucleotide variant Cardiovascular phenotype [RCV000243600]|Dilated cardiomyopathy 1JJ [RCV000535001]|not provided [RCV000786338] Chr6:112187542 [GRCh38]
Chr6:112508744 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3594C>A (p.Phe1198Leu) single nucleotide variant Cardiovascular phenotype [RCV000246038]|Dilated cardiomyopathy 1JJ [RCV001854986] Chr6:112133451 [GRCh38]
Chr6:112454653 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3086C>T (p.Pro1029Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000525936] Chr6:112139776 [GRCh38]
Chr6:112460978 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3372T>C (p.Asp1124=) single nucleotide variant Cardiovascular phenotype [RCV000241779]|Dilated cardiomyopathy 1JJ [RCV001413610] Chr6:112136165 [GRCh38]
Chr6:112457367 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3704G>C (p.Arg1235Pro) single nucleotide variant Cardiovascular phenotype [RCV000249579] Chr6:112132883 [GRCh38]
Chr6:112454085 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5405C>A (p.Pro1802Gln) single nucleotide variant Cardiovascular phenotype [RCV000247447]|Dilated cardiomyopathy 1JJ [RCV003741175] Chr6:112109504 [GRCh38]
Chr6:112430707 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5345G>A (p.Arg1782His) single nucleotide variant Cardiovascular phenotype [RCV002350157]|Dilated cardiomyopathy 1JJ [RCV001220278]|not provided [RCV000521431] Chr6:112109564 [GRCh38]
Chr6:112430767 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1200C>T (p.Asn400=) single nucleotide variant Cardiovascular phenotype [RCV000250162]|Dilated cardiomyopathy 1JJ [RCV002059037] Chr6:112175470 [GRCh38]
Chr6:112496672 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2671A>G (p.Lys891Glu) single nucleotide variant not provided [RCV000519426] Chr6:112141500 [GRCh38]
Chr6:112462702 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4235T>C (p.Leu1412Pro) single nucleotide variant Cardiovascular phenotype [RCV000247890]|Dilated cardiomyopathy 1JJ [RCV000764618] Chr6:112128974 [GRCh38]
Chr6:112450176 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4134-1G>A single nucleotide variant Cardiovascular phenotype [RCV000243049] Chr6:112129076 [GRCh38]
Chr6:112450278 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3986A>G (p.Asp1329Gly) single nucleotide variant not provided [RCV000521601] Chr6:112130023 [GRCh38]
Chr6:112451225 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2840dup (p.Leu947fs) duplication not provided [RCV000282950] Chr6:112140895..112140896 [GRCh38]
Chr6:112462097..112462098 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1788C>A (p.Asp596Glu) single nucleotide variant Cardiovascular phenotype [RCV002404281]|Dilated cardiomyopathy 1JJ [RCV000764619]|not provided [RCV000489463] Chr6:112158761 [GRCh38]
Chr6:112479963 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1769C>G (p.Ala590Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001866034]|not provided [RCV001571770] Chr6:112158780 [GRCh38]
Chr6:112479982 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4665+187C>T single nucleotide variant not provided [RCV001567902] Chr6:112120096 [GRCh38]
Chr6:112441299 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2620C>G (p.Leu874Val) single nucleotide variant Cardiovascular phenotype [RCV002431431]|not provided [RCV000489806] Chr6:112142166 [GRCh38]
Chr6:112463368 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.719-24G>T single nucleotide variant not provided [RCV001567169] Chr6:112189229 [GRCh38]
Chr6:112510431 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3921C>A (p.Tyr1307Ter) single nucleotide variant Cardiovascular phenotype [RCV002367664]|not provided [RCV000490110] Chr6:112131015 [GRCh38]
Chr6:112452217 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4455A>C (p.Leu1485Phe) single nucleotide variant not specified [RCV000604240] Chr6:112122034 [GRCh38]
Chr6:112443237 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.72C>T (p.Ala24=) single nucleotide variant Cardiovascular phenotype [RCV000621425]|Dilated cardiomyopathy 1JJ [RCV001437331] Chr6:112254079 [GRCh38]
Chr6:112575281 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.944A>G (p.Asn315Ser) single nucleotide variant Cardiovascular phenotype [RCV002377162]|Dilated cardiomyopathy 1JJ [RCV000549004]|not provided [RCV001571407] Chr6:112187472 [GRCh38]
Chr6:112508674 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3415-7C>G single nucleotide variant not specified [RCV000600828] Chr6:112134616 [GRCh38]
Chr6:112455818 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4724T>C (p.Leu1575Pro) single nucleotide variant Cardiovascular phenotype [RCV003307485]|Dilated cardiomyopathy 1JJ [RCV000806354]|not provided [RCV002462167] Chr6:112119253 [GRCh38]
Chr6:112440456 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2977-5C>T single nucleotide variant not specified [RCV000603137] Chr6:112139890 [GRCh38]
Chr6:112461092 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.952A>G (p.Ile318Val) single nucleotide variant Cardiovascular phenotype [RCV000621871]|Dilated cardiomyopathy 1JJ [RCV000697311]|not provided [RCV001584434] Chr6:112187464 [GRCh38]
Chr6:112508666 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3414+308A>G single nucleotide variant not provided [RCV001545310] Chr6:112135815 [GRCh38]
Chr6:112457017 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2977-3T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000541729] Chr6:112139888 [GRCh38]
Chr6:112461090 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1598C>A (p.Ser533Tyr) single nucleotide variant not specified [RCV000412804] Chr6:112165230 [GRCh38]
Chr6:112486432 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1083T>A (p.Asn361Lys) single nucleotide variant not specified [RCV000414207] Chr6:112178227 [GRCh38]
Chr6:112499429 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3246A>G (p.Pro1082=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001477621]|LAMA4-related condition [RCV003972652]|not specified [RCV000417783] Chr6:112139156 [GRCh38]
Chr6:112460358 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.381A>G (p.Gln127=) single nucleotide variant Cardiovascular phenotype [RCV003168671]|Dilated cardiomyopathy 1JJ [RCV001414871]|not specified [RCV000420914] Chr6:112207062 [GRCh38]
Chr6:112528263 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.66C>T (p.Ser22=) single nucleotide variant not specified [RCV000423816] Chr6:112254085 [GRCh38]
Chr6:112575287 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2493+20A>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002062338]|not specified [RCV000445229] Chr6:112144774 [GRCh38]
Chr6:112465976 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3282+7A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002063552]|not specified [RCV000418185] Chr6:112139113 [GRCh38]
Chr6:112460315 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5400A>G (p.Gly1800=) single nucleotide variant Cardiovascular phenotype [RCV003168672]|Dilated cardiomyopathy 1JJ [RCV001446602]|not specified [RCV000431683] Chr6:112109509 [GRCh38]
Chr6:112430712 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1960-3T>C single nucleotide variant Cardiovascular phenotype [RCV002411382]|Dilated cardiomyopathy 1JJ [RCV000651429]|not provided [RCV001249444]|not specified [RCV000428078] Chr6:112154950 [GRCh38]
Chr6:112476152 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance|not provided
NM_001105206.3(LAMA4):c.996C>T (p.Tyr332=) single nucleotide variant Cardiovascular phenotype [RCV002379348]|Dilated cardiomyopathy 1JJ [RCV001409131]|not specified [RCV000442428] Chr6:112185318 [GRCh38]
Chr6:112506520 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3684A>G (p.Pro1228=) single nucleotide variant Cardiovascular phenotype [RCV002451015]|Dilated cardiomyopathy 1JJ [RCV001442139]|not provided [RCV000960257] Chr6:112133361 [GRCh38]
Chr6:112454563 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3696+8C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002525384]|not specified [RCV000428784] Chr6:112133341 [GRCh38]
Chr6:112454543 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1357+1G>A single nucleotide variant Cardiovascular phenotype [RCV002379395]|Dilated cardiomyopathy 1JJ [RCV001211846]|not provided [RCV000419356] Chr6:112175312 [GRCh38]
Chr6:112496514 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.945C>T (p.Asn315=) single nucleotide variant Cardiovascular phenotype [RCV002374668]|Dilated cardiomyopathy 1JJ [RCV001473417]|not specified [RCV000429011] Chr6:112187471 [GRCh38]
Chr6:112508673 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2331A>C (p.Ala777=) single nucleotide variant not provided [RCV000888909]|not specified [RCV000443313] Chr6:112148179 [GRCh38]
Chr6:112469381 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1357+15C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002063348]|not specified [RCV000429281] Chr6:112175298 [GRCh38]
Chr6:112496500 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4981+9A>G single nucleotide variant not specified [RCV000432695] Chr6:112117730 [GRCh38]
Chr6:112438933 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2354-19T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741180]|not specified [RCV000439647] Chr6:112144952 [GRCh38]
Chr6:112466154 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.141G>T (p.Pro47=) single nucleotide variant Cardiovascular phenotype [RCV002393022]|Dilated cardiomyopathy 1JJ [RCV003741185]|not specified [RCV000432928] Chr6:112254010 [GRCh38]
Chr6:112575212 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)x1 copy number loss See cases [RCV000445666] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
NM_001105206.3(LAMA4):c.4111A>C (p.Ile1371Leu) single nucleotide variant Cardiomyopathy [RCV001170686]|Cardiovascular phenotype [RCV002323634]|Dilated cardiomyopathy 1JJ [RCV000814418]|not provided [RCV000436535] Chr6:112129898 [GRCh38]
Chr6:112451100 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3111-18G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002062316]|not provided [RCV001727718]|not specified [RCV000440236] Chr6:112139309 [GRCh38]
Chr6:112460511 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.3846C>T (p.Phe1282=) single nucleotide variant not specified [RCV000436924] Chr6:112131090 [GRCh38]
Chr6:112452292 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3414+7A>C single nucleotide variant not specified [RCV000440364] Chr6:112136116 [GRCh38]
Chr6:112457318 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1614G>T (p.Ala538=) single nucleotide variant not specified [RCV000420332] Chr6:112165214 [GRCh38]
Chr6:112486416 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1716A>G (p.Leu572=) single nucleotide variant not specified [RCV000426917] Chr6:112158833 [GRCh38]
Chr6:112480035 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5113-16G>A single nucleotide variant not specified [RCV000420390] Chr6:112114772 [GRCh38]
Chr6:112435975 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.85G>A (p.Asp29Asn) single nucleotide variant Cardiovascular phenotype [RCV002446725]|Dilated cardiomyopathy 1JJ [RCV002059871]|not provided [RCV001721355]|not specified [RCV003330675] Chr6:112254066 [GRCh38]
Chr6:112575268 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.-37G>A single nucleotide variant not specified [RCV000426982] Chr6:112254187 [GRCh38]
Chr6:112575389 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1 copy number loss 6q21-6q22.1 deletion [RCV000416567] Chr6:112069445..120994664 [GRCh37]
Chr6:6q21-22.31		 likely pathogenic
NM_001105206.3(LAMA4):c.3574C>T (p.Leu1192Phe) single nucleotide variant Cardiovascular phenotype [RCV002451091]|Dilated cardiomyopathy 1JJ [RCV000458986] Chr6:112133471 [GRCh38]
Chr6:112454673 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.720G>A (p.Val240=) single nucleotide variant Cardiovascular phenotype [RCV002374834]|Dilated cardiomyopathy 1JJ [RCV001478094] Chr6:112189204 [GRCh38]
Chr6:112510406 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.203A>G (p.Asn68Ser) single nucleotide variant Cardiovascular phenotype [RCV003168982]|Dilated cardiomyopathy 1JJ [RCV002481536]|not provided [RCV000479286] Chr6:112216462 [GRCh38]
Chr6:112537663 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.640C>T (p.Arg214Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002525966]|not provided [RCV000483352] Chr6:112191714 [GRCh38]
Chr6:112512916 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5458T>C (p.Cys1820Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000467213] Chr6:112109451 [GRCh38]
Chr6:112430654 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.157C>A (p.Pro53Thr) single nucleotide variant not provided [RCV000480059] Chr6:112253994 [GRCh38]
Chr6:112575196 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.36T>C (p.Pro12=) single nucleotide variant Cardiovascular phenotype [RCV003372721]|Dilated cardiomyopathy 1JJ [RCV001446516] Chr6:112254115 [GRCh38]
Chr6:112575317 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3557+6G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000471551] Chr6:112134461 [GRCh38]
Chr6:112455663 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4870A>C (p.Asn1624His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000475109] Chr6:112117850 [GRCh38]
Chr6:112439053 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.59C>T (p.Ala20Val) single nucleotide variant Cardiovascular phenotype [RCV002356662]|Dilated cardiomyopathy 1JJ [RCV000460405]|not provided [RCV000786334] Chr6:112254092 [GRCh38]
Chr6:112575294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4583G>T (p.Arg1528Leu) single nucleotide variant Cardiovascular phenotype [RCV002339134]|Dilated cardiomyopathy 1JJ [RCV000468013]|not provided [RCV002223844] Chr6:112120365 [GRCh38]
Chr6:112441568 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1327G>A (p.Val443Met) single nucleotide variant Cardiovascular phenotype [RCV002379426]|Dilated cardiomyopathy 1JJ [RCV000471630] Chr6:112175343 [GRCh38]
Chr6:112496545 [GRCh37]
Chr6:6q21		 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_001105206.3(LAMA4):c.5237A>G (p.Asp1746Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000475717] Chr6:112114165 [GRCh38]
Chr6:112435368 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.307C>T (p.Arg103Trp) single nucleotide variant Cardiovascular phenotype [RCV000617622]|Dilated cardiomyopathy 1JJ [RCV000686153]|not provided [RCV000482041] Chr6:112207136 [GRCh38]
Chr6:112528337 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.153C>A (p.Ser51Arg) single nucleotide variant Cardiovascular phenotype [RCV003372717]|Dilated cardiomyopathy 1JJ [RCV000469423]|not specified [RCV003401458] Chr6:112253998 [GRCh38]
Chr6:112575200 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.355G>A (p.Gly119Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000473149]|not provided [RCV000786339] Chr6:112207088 [GRCh38]
Chr6:112528289 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.150G>A (p.Thr50=) single nucleotide variant Cardiovascular phenotype [RCV002393187]|Dilated cardiomyopathy 1JJ [RCV000458213] Chr6:112254001 [GRCh38]
Chr6:112575203 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4077A>G (p.Pro1359=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001418307] Chr6:112129932 [GRCh38]
Chr6:112451134 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3153C>A (p.Phe1051Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000462077] Chr6:112139249 [GRCh38]
Chr6:112460451 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) single nucleotide variant Cardiovascular phenotype [RCV002323776]|Dilated cardiomyopathy 1JJ [RCV000477345]|LAMA4-related condition [RCV003925338]|not provided [RCV000858998]|not specified [RCV001701012] Chr6:112178152 [GRCh38]
Chr6:112499354 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001105206.3(LAMA4):c.913G>A (p.Ala305Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000462484]|Inborn genetic diseases [RCV003352869] Chr6:112187503 [GRCh38]
Chr6:112508705 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6p25.3-q27(chr6:156975-170919482) copy number gain See cases [RCV000510595] Chr6:156975..170919482 [GRCh37]
Chr6:6p25.3-q27		 pathogenic
NM_001105206.3(LAMA4):c.4601A>G (p.Asn1534Ser) single nucleotide variant Cardiovascular phenotype [RCV002341445]|Dilated cardiomyopathy 1JJ [RCV000531937] Chr6:112120347 [GRCh38]
Chr6:112441550 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1437_1442dup (p.Asp480_Tyr481dup) duplication Cardiovascular phenotype [RCV002395204]|Dilated cardiomyopathy 1JJ [RCV000793602]|not provided [RCV000497769] Chr6:112172719..112172720 [GRCh38]
Chr6:112493921..112493922 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1385G>A (p.Arg462Gln) single nucleotide variant Cardiomyopathy [RCV001798863]|Cardiovascular phenotype [RCV002383955]|Dilated cardiomyopathy 1JJ [RCV000559297]|not provided [RCV000498151] Chr6:112172777 [GRCh38]
Chr6:112493979 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3742A>G (p.Ile1248Val) single nucleotide variant Brugada syndrome 9 [RCV000578098]|Cardiovascular phenotype [RCV003159972]|Dilated cardiomyopathy 1JJ [RCV000578042]|Familial atrial fibrillation [RCV000578048]|Primary dilated cardiomyopathy [RCV000578116]|Spinocerebellar ataxia type 19/22 [RCV000577985]|not provided [RCV000951026] Chr6:112132845 [GRCh38]
Chr6:112454047 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.133C>T (p.Gln45Ter) single nucleotide variant Dilated cardiomyopathy 1S [RCV000490907] Chr6:112254018 [GRCh38]
Chr6:112575220 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2506A>G (p.Met836Val) single nucleotide variant Cardiovascular phenotype [RCV002431441]|Dilated cardiomyopathy 1JJ [RCV001856980]|not provided [RCV000493096] Chr6:112142280 [GRCh38]
Chr6:112463482 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.40T>C (p.Trp14Arg) single nucleotide variant Cardiovascular phenotype [RCV003372772]|Dilated cardiomyopathy 1JJ [RCV000600889]|not provided [RCV001727778] Chr6:112254111 [GRCh38]
Chr6:112575313 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.122C>T (p.Ala41Val) single nucleotide variant Cardiovascular phenotype [RCV000618239]|Dilated cardiomyopathy 1JJ [RCV001478565]|not specified [RCV000603016] Chr6:112254029 [GRCh38]
Chr6:112575231 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=) single nucleotide variant Cardiovascular phenotype [RCV002324047]|Dilated cardiomyopathy 1JJ [RCV001391687]|not provided [RCV000594516] Chr6:112139237 [GRCh38]
Chr6:112460439 [GRCh37]
Chr6:6q21		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.2305T>C (p.Phe769Leu) single nucleotide variant Cardiovascular phenotype [RCV002448911]|Dilated cardiomyopathy 1JJ [RCV000607294]|not provided [RCV001701393] Chr6:112148205 [GRCh38]
Chr6:112469407 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5380C>T (p.Arg1794Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001854144]|not specified [RCV000603556] Chr6:112109529 [GRCh38]
Chr6:112430732 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4683_4684del (p.Arg1562fs) deletion Dilated cardiomyopathy 1JJ [RCV001066226]|not provided [RCV001591368]|not specified [RCV000603660] Chr6:112119293..112119294 [GRCh38]
Chr6:112440496..112440497 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5230C>T (p.Gln1744Ter) single nucleotide variant not provided [RCV000578792] Chr6:112114172 [GRCh38]
Chr6:112435375 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4746T>G (p.Thr1582=) single nucleotide variant Cardiovascular phenotype [RCV000618487]|Dilated cardiomyopathy 1JJ [RCV001417976] Chr6:112119231 [GRCh38]
Chr6:112440434 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4953T>C (p.Phe1651=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000558598] Chr6:112117767 [GRCh38]
Chr6:112438970 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2385C>T (p.Leu795=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001443963] Chr6:112144902 [GRCh38]
Chr6:112466104 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5241G>A (p.Val1747=) single nucleotide variant Cardiovascular phenotype [RCV002350433]|Dilated cardiomyopathy 1JJ [RCV002532712]|not specified [RCV000600818] Chr6:112114161 [GRCh38]
Chr6:112435364 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.657C>A (p.Phe219Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000534637] Chr6:112191697 [GRCh38]
Chr6:112512899 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5021T>G (p.Phe1674Cys) single nucleotide variant Cardiovascular phenotype [RCV000617428]|Dilated cardiomyopathy 1JJ [RCV000704221] Chr6:112115954 [GRCh38]
Chr6:112437157 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3819C>A (p.Phe1273Leu) single nucleotide variant Cardiovascular phenotype [RCV003159699]|Dilated cardiomyopathy 1JJ [RCV002527656]|not provided [RCV000522208] Chr6:112132768 [GRCh38]
Chr6:112453970 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2619A>G (p.Glu873=) single nucleotide variant Cardiovascular phenotype [RCV000618808]|Dilated cardiomyopathy 1JJ [RCV002531758] Chr6:112142167 [GRCh38]
Chr6:112463369 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1420G>T (p.Val474Phe) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656183] Chr6:112172742 [GRCh38]
Chr6:112493944 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1961C>T (p.Ala654Val) single nucleotide variant Cardiovascular phenotype [RCV002406460]|Dilated cardiomyopathy 1JJ [RCV000651430]|not provided [RCV000786336] Chr6:112154946 [GRCh38]
Chr6:112476148 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4572G>C (p.Leu1524Phe) single nucleotide variant Cardiovascular phenotype [RCV002331255]|Dilated cardiomyopathy 1JJ [RCV000651431]|not provided [RCV002223899] Chr6:112120376 [GRCh38]
Chr6:112441579 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2402C>T (p.Thr801Met) single nucleotide variant Cardiovascular phenotype [RCV002458142]|Dilated cardiomyopathy 1JJ [RCV000651433] Chr6:112144885 [GRCh38]
Chr6:112466087 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.167C>T (p.Ala56Val) single nucleotide variant Cardiomyopathy [RCV003150325]|Cardiovascular phenotype [RCV002397305]|Dilated cardiomyopathy 1JJ [RCV000651435]|not provided [RCV001577946] Chr6:112253984 [GRCh38]
Chr6:112575186 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2203A>G (p.Arg735Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000651438]|not provided [RCV001557348] Chr6:112148307 [GRCh38]
Chr6:112469509 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4078A>G (p.Ile1360Val) single nucleotide variant Cardiovascular phenotype [RCV002325308]|Dilated cardiomyopathy 1JJ [RCV000651439] Chr6:112129931 [GRCh38]
Chr6:112451133 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.730G>A (p.Gly244Arg) single nucleotide variant Cardiovascular phenotype [RCV002386107]|Dilated cardiomyopathy 1JJ [RCV000651440] Chr6:112189194 [GRCh38]
Chr6:112510396 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1275G>T (p.Lys425Asn) single nucleotide variant Cardiovascular phenotype [RCV002422406]|Dilated cardiomyopathy 1JJ [RCV000651441]|not provided [RCV001731844] Chr6:112175395 [GRCh38]
Chr6:112496597 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.710A>T (p.Asn237Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000651442]|not provided [RCV001766411] Chr6:112191644 [GRCh38]
Chr6:112512846 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1541G>A (p.Arg514Gln) single nucleotide variant Cardiovascular phenotype [RCV002388138]|Dilated cardiomyopathy 1JJ [RCV000651443]|not provided [RCV001756094] Chr6:112172621 [GRCh38]
Chr6:112493823 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4972G>A (p.Val1658Met) single nucleotide variant Cardiovascular phenotype [RCV002334195]|Dilated cardiomyopathy 1JJ [RCV000651445] Chr6:112117748 [GRCh38]
Chr6:112438951 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5184T>C (p.Asp1728=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000651447] Chr6:112114685 [GRCh38]
Chr6:112435888 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2769C>T (p.Pro923=) single nucleotide variant Cardiovascular phenotype [RCV002440363]|Dilated cardiomyopathy 1JJ [RCV000651448]|LAMA4-related condition [RCV003918064]|not provided [RCV001712539] Chr6:112141402 [GRCh38]
Chr6:112462604 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4914C>T (p.Thr1638=) single nucleotide variant Cardiomyopathy [RCV000769188]|Dilated cardiomyopathy 1JJ [RCV000651449] Chr6:112117806 [GRCh38]
Chr6:112439009 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5364C>A (p.Pro1788=) single nucleotide variant Cardiovascular phenotype [RCV002343372]|Dilated cardiomyopathy 1JJ [RCV000651450]|not specified [RCV003488765] Chr6:112109545 [GRCh38]
Chr6:112430748 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+4C>T single nucleotide variant Cardiovascular phenotype [RCV002397306]|Dilated cardiomyopathy 1JJ [RCV000651451] Chr6:112185233 [GRCh38]
Chr6:112506435 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2097T>C (p.Gly699=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000651452] Chr6:112150587 [GRCh38]
Chr6:112471789 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1104A>G (p.Gln368=) single nucleotide variant Cardiovascular phenotype [RCV003303074]|Dilated cardiomyopathy 1JJ [RCV000651460] Chr6:112178206 [GRCh38]
Chr6:112499408 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4878C>A (p.Ala1626=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000651459] Chr6:112117842 [GRCh38]
Chr6:112439045 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.824A>G (p.Lys275Arg) single nucleotide variant Cardiovascular phenotype [RCV002406461]|Dilated cardiomyopathy 1JJ [RCV000651457]|Primary dilated cardiomyopathy [RCV000853006]|not provided [RCV001557901] Chr6:112187592 [GRCh38]
Chr6:112508794 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2146G>A (p.Val716Ile) single nucleotide variant Cardiovascular phenotype [RCV002422407]|Dilated cardiomyopathy 1JJ [RCV000651456]|not provided [RCV001771902] Chr6:112150538 [GRCh38]
Chr6:112471740 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.393G>A (p.Pro131=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001396121] Chr6:112207050 [GRCh38]
Chr6:112528251 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1669-6C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000603729]|not provided [RCV001725192]|not specified [RCV001698769] Chr6:112158886 [GRCh38]
Chr6:112480088 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1761C>T (p.Val587=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001492211]|not specified [RCV000609569] Chr6:112158788 [GRCh38]
Chr6:112479990 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1140C>T (p.His380=) single nucleotide variant Cardiomyopathy [RCV000770224]|Cardiovascular phenotype [RCV002438591]|Dilated cardiomyopathy 1JJ [RCV002065390]|not specified [RCV000609579] Chr6:112178170 [GRCh38]
Chr6:112499372 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3834+19C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002066697]|not specified [RCV000612350] Chr6:112132734 [GRCh38]
Chr6:112453936 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3111-18G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002529504]|not specified [RCV000615178] Chr6:112139309 [GRCh38]
Chr6:112460511 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.225G>A (p.Leu75=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000616612]|not provided [RCV001719047]|not specified [RCV000613967] Chr6:112216440 [GRCh38]
Chr6:112537641 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1818-16G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002528572]|not specified [RCV000601336] Chr6:112155722 [GRCh38]
Chr6:112476924 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2417G>A (p.Arg806Gln) single nucleotide variant Cardiovascular phenotype [RCV000621174]|Dilated cardiomyopathy 1JJ [RCV002506497]|not provided [RCV000786337] Chr6:112144870 [GRCh38]
Chr6:112466072 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2667C>T (p.Asn889=) single nucleotide variant Cardiovascular phenotype [RCV003302954]|Dilated cardiomyopathy 1JJ [RCV001219219]|LAMA4-related condition [RCV003953077]|not specified [RCV000615413] Chr6:112142119 [GRCh38]
Chr6:112463321 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.5046C>T (p.Ser1682=) single nucleotide variant Cardiovascular phenotype [RCV002341562]|Dilated cardiomyopathy 1JJ [RCV002063174]|not specified [RCV000601588] Chr6:112115929 [GRCh38]
Chr6:112437132 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2354-18A>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002063183]|not specified [RCV000601604] Chr6:112144951 [GRCh38]
Chr6:112466153 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2214C>T (p.Thr738=) single nucleotide variant Cardiovascular phenotype [RCV002431832]|Dilated cardiomyopathy 1JJ [RCV000599707] Chr6:112148296 [GRCh38]
Chr6:112469498 [GRCh37]
Chr6:6q21		 benign|likely benign|uncertain significance
NM_001105206.3(LAMA4):c.5267G>A (p.Gly1756Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002528781]|not specified [RCV000607204] Chr6:112114135 [GRCh38]
Chr6:112435338 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3161G>A (p.Gly1054Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003079048] Chr6:112139241 [GRCh38]
Chr6:112460443 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5393T>C (p.Ile1798Thr) single nucleotide variant Cardiovascular phenotype [RCV000618379]|Dilated cardiomyopathy 1JJ [RCV000706232]|not provided [RCV002261132]|not specified [RCV003987623] Chr6:112109516 [GRCh38]
Chr6:112430719 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.196-11G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002483688]|not provided [RCV001707782] Chr6:112216480 [GRCh38]
Chr6:112537681 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.828C>T (p.Cys276=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001409037]|not provided [RCV001719026] Chr6:112187588 [GRCh38]
Chr6:112508790 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.449dup (p.Asn150fs) duplication Cardiovascular phenotype [RCV000618945]|Dilated cardiomyopathy 1JJ [RCV002491308] Chr6:112201661..112201662 [GRCh38]
Chr6:112522862..112522863 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.228G>A (p.Ser76=) single nucleotide variant Cardiovascular phenotype [RCV002448843]|Dilated cardiomyopathy 1JJ [RCV001347902]|not specified [RCV000602099] Chr6:112216437 [GRCh38]
Chr6:112537638 [GRCh37]
Chr6:6q21		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.-147C>T single nucleotide variant not specified [RCV000613153] Chr6:112254464 [GRCh38]
Chr6:112575666 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3515A>G (p.Asp1172Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001305213]|not specified [RCV000607731] Chr6:112134509 [GRCh38]
Chr6:112455711 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4305T>C (p.Asp1435=) single nucleotide variant Cardiovascular phenotype [RCV002331028]|Dilated cardiomyopathy 1JJ [RCV002062116]|not specified [RCV000607898] Chr6:112122184 [GRCh38]
Chr6:112443387 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4696C>T (p.Arg1566Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002506488]|not specified [RCV000608092] Chr6:112119281 [GRCh38]
Chr6:112440484 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3561C>T (p.Ala1187=) single nucleotide variant Cardiovascular phenotype [RCV002456355]|not specified [RCV000616910] Chr6:112133484 [GRCh38]
Chr6:112454686 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.90C>T (p.Asn30=) single nucleotide variant not specified [RCV000611097] Chr6:112254061 [GRCh38]
Chr6:112575263 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3933G>A (p.Leu1311=) single nucleotide variant not specified [RCV000611205] Chr6:112131003 [GRCh38]
Chr6:112452205 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5202T>C (p.Ile1734=) single nucleotide variant Cardiovascular phenotype [RCV003296609] Chr6:112114667 [GRCh38]
Chr6:112435870 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2787T>C (p.Ala929=) single nucleotide variant Cardiovascular phenotype [RCV003296610] Chr6:112141384 [GRCh38]
Chr6:112462586 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1658A>C (p.Asp553Ala) single nucleotide variant Cardiovascular phenotype [RCV003296611] Chr6:112165170 [GRCh38]
Chr6:112486372 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.75G>C (p.Ala25=) single nucleotide variant Cardiovascular phenotype [RCV003296612] Chr6:112254076 [GRCh38]
Chr6:112575278 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3612C>T (p.Gly1204=) single nucleotide variant Cardiovascular phenotype [RCV003296613] Chr6:112133433 [GRCh38]
Chr6:112454635 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3827C>T (p.Ala1276Val) single nucleotide variant Cardiovascular phenotype [RCV003296615] Chr6:112132760 [GRCh38]
Chr6:112453962 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.456T>G (p.Ala152=) single nucleotide variant Cardiovascular phenotype [RCV003296616] Chr6:112201655 [GRCh38]
Chr6:112522856 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5098A>G (p.Met1700Val) single nucleotide variant Cardiovascular phenotype [RCV003296617] Chr6:112115877 [GRCh38]
Chr6:112437080 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5456C>T (p.Ser1819Phe) single nucleotide variant Cardiovascular phenotype [RCV003296620] Chr6:112109453 [GRCh38]
Chr6:112430656 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.494A>T (p.Asn165Ile) single nucleotide variant Cardiovascular phenotype [RCV003296625] Chr6:112201617 [GRCh38]
Chr6:112522818 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.82G>A (p.Asp28Asn) single nucleotide variant Cardiovascular phenotype [RCV003296626]|Dilated cardiomyopathy 1JJ [RCV003581914]|not provided [RCV003434743] Chr6:112254069 [GRCh38]
Chr6:112575271 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3325G>A (p.Val1109Met) single nucleotide variant Cardiovascular phenotype [RCV003296636]|Dilated cardiomyopathy 1JJ [RCV003581915] Chr6:112136212 [GRCh38]
Chr6:112457414 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1551+5A>G single nucleotide variant not specified [RCV000611295] Chr6:112172606 [GRCh38]
Chr6:112493808 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2494-13T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002062868]|not provided [RCV001724077]|not specified [RCV000608877] Chr6:112142305 [GRCh38]
Chr6:112463507 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+8dup duplication Dilated cardiomyopathy 1JJ [RCV001350617]|not specified [RCV000037325] Chr6:112185228..112185229 [GRCh38]
Chr6:112506430..112506431 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2143G>T (p.Ala715Ser) single nucleotide variant Cardiovascular phenotype [RCV002422405]|Dilated cardiomyopathy 1JJ [RCV000651428]|not provided [RCV001565478] Chr6:112150541 [GRCh38]
Chr6:112471743 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) single nucleotide variant Cardiovascular phenotype [RCV002431831]|Dilated cardiomyopathy 1JJ [RCV000612302]|not provided [RCV001702818]|not specified [RCV003330831] Chr6:112148278 [GRCh38]
Chr6:112469480 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.4475+14C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002529735]|not specified [RCV000601915] Chr6:112122000 [GRCh38]
Chr6:112443203 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.82GAC[1] (p.Asp29del) microsatellite Cardiovascular phenotype [RCV000619977]|Dilated cardiomyopathy 1JJ [RCV000818056] Chr6:112254064..112254066 [GRCh38]
Chr6:112575266..112575268 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.873C>T (p.Ile291=) single nucleotide variant Cardiomyopathy [RCV001170904]|Cardiovascular phenotype [RCV002448882]|Dilated cardiomyopathy 1JJ [RCV000865636]|LAMA4-related condition [RCV003980165]|not specified [RCV000604297] Chr6:112187543 [GRCh38]
Chr6:112508745 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4255T>C (p.Leu1419=) single nucleotide variant Cardiovascular phenotype [RCV000619632] Chr6:112128954 [GRCh38]
Chr6:112450156 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.547A>G (p.Thr183Ala) single nucleotide variant Cardiovascular phenotype [RCV000620215]|Dilated cardiomyopathy 1JJ [RCV000651436]|not provided [RCV001529542] Chr6:112191807 [GRCh38]
Chr6:112513009 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4839T>C (p.Ser1613=) single nucleotide variant Cardiovascular phenotype [RCV002334004]|Dilated cardiomyopathy 1JJ [RCV001411637]|not provided [RCV001698432] Chr6:112117881 [GRCh38]
Chr6:112439084 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2334G>A (p.Val778=) single nucleotide variant Cardiovascular phenotype [RCV000620539]|Dilated cardiomyopathy 1JJ [RCV002063272]|not provided [RCV001697574] Chr6:112148176 [GRCh38]
Chr6:112469378 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5035A>G (p.Arg1679Gly) single nucleotide variant Cardiovascular phenotype [RCV000622022]|Dilated cardiomyopathy 1JJ [RCV003741209] Chr6:112115940 [GRCh38]
Chr6:112437143 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.892G>A (p.Val298Met) single nucleotide variant Cardiovascular phenotype [RCV000622037]|Dilated cardiomyopathy 1JJ [RCV001860371] Chr6:112187524 [GRCh38]
Chr6:112508726 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1 copy number loss not provided [RCV000682693] Chr6:95549951..116684929 [GRCh37]
Chr6:6q16.1-22.1		 pathogenic
GRCh37/hg19 6q21(chr6:112249382-113216278)x3 copy number gain not provided [RCV000682710] Chr6:112249382..113216278 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1082dup (p.Asn361fs) duplication Dilated cardiomyopathy 1JJ [RCV000698105] Chr6:112178227..112178228 [GRCh38]
Chr6:112499429..112499430 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4607G>T (p.Gly1536Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000678712]|Dilated cardiomyopathy 1JJ [RCV002477513]|not provided [RCV003148824] Chr6:112120341 [GRCh38]
Chr6:112441544 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1643T>C (p.Leu548Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001312624]|not specified [RCV000678711] Chr6:112165185 [GRCh38]
Chr6:112486387 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4402C>T (p.His1468Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000707352] Chr6:112122087 [GRCh38]
Chr6:112443290 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5129A>G (p.Asn1710Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000705146] Chr6:112114740 [GRCh38]
Chr6:112435943 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.550T>C (p.Cys184Arg) single nucleotide variant Cardiovascular phenotype [RCV003372829]|Dilated cardiomyopathy 1JJ [RCV000705528] Chr6:112191804 [GRCh38]
Chr6:112513006 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.909T>A (p.Ser303=) single nucleotide variant Cardiovascular phenotype [RCV002369828]|Dilated cardiomyopathy 1JJ [RCV000686472] Chr6:112187507 [GRCh38]
Chr6:112508709 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.4287+4A>G single nucleotide variant Cardiovascular phenotype [RCV003303123]|Dilated cardiomyopathy 1JJ [RCV000689835] Chr6:112128918 [GRCh38]
Chr6:112450120 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4786G>A (p.Gly1596Ser) single nucleotide variant Cardiovascular phenotype [RCV002334367]|Dilated cardiomyopathy 1JJ [RCV000703013]|not provided [RCV002223923] Chr6:112119191 [GRCh38]
Chr6:112440394 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2231C>A (p.Thr744Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000699298] Chr6:112148279 [GRCh38]
Chr6:112469481 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.673G>C (p.Ala225Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000703544] Chr6:112191681 [GRCh38]
Chr6:112512883 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1105C>A (p.Leu369Ile) single nucleotide variant Cardiovascular phenotype [RCV002424606]|Dilated cardiomyopathy 1JJ [RCV000689400] Chr6:112178205 [GRCh38]
Chr6:112499407 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.967-222T>C single nucleotide variant not provided [RCV001567528] Chr6:112185569 [GRCh38]
Chr6:112506771 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1668+117A>G single nucleotide variant not provided [RCV001546558] Chr6:112165043 [GRCh38]
Chr6:112486245 [GRCh37]
Chr6:6q21		 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
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 6q21(chr6:112512882-112633545)x3 copy number gain not provided [RCV000745976] Chr6:112512882..112633545 [GRCh37]
Chr6:6q21		 benign
GRCh37/hg19 6q21(chr6:112531660-112612615)x3 copy number gain not provided [RCV000745977] Chr6:112531660..112612615 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4982-136G>A single nucleotide variant not provided [RCV001540497] Chr6:112116129 [GRCh38]
Chr6:112437332 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3969-296CA[19] microsatellite not provided [RCV001611416] Chr6:112130300..112130301 [GRCh38]
Chr6:112451502..112451503 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5135G>C (p.Gly1712Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001286660] Chr6:112114734 [GRCh38]
Chr6:112435937 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+277GT[17] microsatellite not provided [RCV001709078] Chr6:112150202..112150203 [GRCh38]
Chr6:112471404..112471405 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5269C>T (p.Pro1757Ser) single nucleotide variant Cardiomyopathy [RCV000852564]|Dilated cardiomyopathy 1JJ [RCV001858509] Chr6:112114133 [GRCh38]
Chr6:112435336 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.309G>A (p.Arg103=) single nucleotide variant Cardiovascular phenotype [RCV002320018]|Dilated cardiomyopathy 1JJ [RCV002064659] Chr6:112207134 [GRCh38]
Chr6:112528335 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2173+277GT[15] microsatellite not provided [RCV001571561] Chr6:112150203..112150204 [GRCh38]
Chr6:112471405..112471406 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1163C>A (p.Ala388Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001065503]|not provided [RCV001760038] Chr6:112178147 [GRCh38]
Chr6:112499349 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3415-299del deletion not provided [RCV001564420] Chr6:112134908 [GRCh38]
Chr6:112456110 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2668-48A>G single nucleotide variant not provided [RCV001565209] Chr6:112141551 [GRCh38]
Chr6:112462753 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2493+33C>T single nucleotide variant not provided [RCV001570103] Chr6:112144761 [GRCh38]
Chr6:112465963 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4982-165G>A single nucleotide variant not provided [RCV001570130] Chr6:112116158 [GRCh38]
Chr6:112437361 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.829G>T (p.Val277Phe) single nucleotide variant Cardiovascular phenotype [RCV002418547]|Dilated cardiomyopathy 1JJ [RCV001066524] Chr6:112187587 [GRCh38]
Chr6:112508789 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1338G>A (p.Glu446=) single nucleotide variant Cardiovascular phenotype [RCV002381947]|Dilated cardiomyopathy 1JJ [RCV002062277] Chr6:112175332 [GRCh38]
Chr6:112496534 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.729C>T (p.Cys243=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001506572] Chr6:112189195 [GRCh38]
Chr6:112510397 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.687T>C (p.Tyr229=) single nucleotide variant not provided [RCV000900758] Chr6:112191667 [GRCh38]
Chr6:112512869 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5029C>T (p.Arg1677Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001497947] Chr6:112115946 [GRCh38]
Chr6:112437149 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3150C>T (p.Tyr1050=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001393914] Chr6:112139252 [GRCh38]
Chr6:112460454 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3110+10A>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001424719] Chr6:112139742 [GRCh38]
Chr6:112460944 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2718C>T (p.Tyr906=) single nucleotide variant Cardiovascular phenotype [RCV002427161]|Dilated cardiomyopathy 1JJ [RCV000869035] Chr6:112141453 [GRCh38]
Chr6:112462655 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4493G>A (p.Arg1498His) single nucleotide variant Cardiomyopathy [RCV001799032]|Cardiovascular phenotype [RCV002327280]|Dilated cardiomyopathy 1JJ [RCV001043151]|not provided [RCV001528891] Chr6:112120455 [GRCh38]
Chr6:112441658 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1456T>A (p.Ser486Thr) single nucleotide variant Cardiovascular phenotype [RCV002393270]|Dilated cardiomyopathy 1JJ [RCV001053049] Chr6:112172706 [GRCh38]
Chr6:112493908 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.107T>C (p.Ile36Thr) single nucleotide variant Cardiovascular phenotype [RCV002418563]|Dilated cardiomyopathy 1JJ [RCV001071381] Chr6:112254044 [GRCh38]
Chr6:112575246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1057G>A (p.Val353Ile) single nucleotide variant Cardiovascular phenotype [RCV002393285]|Dilated cardiomyopathy 1JJ [RCV001059076] Chr6:112185257 [GRCh38]
Chr6:112506459 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3704G>A (p.Arg1235His) single nucleotide variant Cardiovascular phenotype [RCV002451300]|Dilated cardiomyopathy 1JJ [RCV001069177] Chr6:112132883 [GRCh38]
Chr6:112454085 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1522G>A (p.Ala508Thr) single nucleotide variant Cardiovascular phenotype [RCV002390630]|Dilated cardiomyopathy 1JJ [RCV000810220]|not provided [RCV002510983] Chr6:112172640 [GRCh38]
Chr6:112493842 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1843G>A (p.Gly615Arg) single nucleotide variant Cardiovascular phenotype [RCV002406821]|Dilated cardiomyopathy 1JJ [RCV000810367]|not provided [RCV001759563] Chr6:112155681 [GRCh38]
Chr6:112476883 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.652G>A (p.Gly218Arg) single nucleotide variant Cardiomyopathy [RCV000769203]|Cardiovascular phenotype [RCV002360874] Chr6:112191702 [GRCh38]
Chr6:112512904 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.513C>T (p.Pro171=) single nucleotide variant Cardiomyopathy [RCV000769208]|Cardiovascular phenotype [RCV003372837]|Dilated cardiomyopathy 1JJ [RCV001434444]|not provided [RCV001585693] Chr6:112191841 [GRCh38]
Chr6:112513043 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2745G>A (p.Val915=) single nucleotide variant Cardiomyopathy [RCV000770211]|Dilated cardiomyopathy 1JJ [RCV002067216]|LAMA4-related condition [RCV003918259] Chr6:112141426 [GRCh38]
Chr6:112462628 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1842C>T (p.Asn614=) single nucleotide variant Cardiovascular phenotype [RCV002409023]|Dilated cardiomyopathy 1JJ [RCV000863885] Chr6:112155682 [GRCh38]
Chr6:112476884 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2397T>G (p.Leu799=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000941425] Chr6:112144890 [GRCh38]
Chr6:112466092 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.495C>T (p.Asn165=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001429227] Chr6:112201616 [GRCh38]
Chr6:112522817 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3948T>A (p.Ile1316=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002064758] Chr6:112130988 [GRCh38]
Chr6:112452190 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3307C>T (p.Arg1103Cys) single nucleotide variant Cardiovascular phenotype [RCV002319990]|Dilated cardiomyopathy 1JJ [RCV000868242] Chr6:112136230 [GRCh38]
Chr6:112457432 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1110T>C (p.Val370=) single nucleotide variant Cardiovascular phenotype [RCV002445133]|Dilated cardiomyopathy 1JJ [RCV001483467] Chr6:112178200 [GRCh38]
Chr6:112499402 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4476-10C>A single nucleotide variant Cardiomyopathy [RCV001170144]|Dilated cardiomyopathy 1JJ [RCV001468777] Chr6:112120482 [GRCh38]
Chr6:112441685 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.837C>T (p.Asp279=) single nucleotide variant Cardiomyopathy [RCV000769201]|Cardiovascular phenotype [RCV002422651]|Dilated cardiomyopathy 1JJ [RCV003741217] Chr6:112187579 [GRCh38]
Chr6:112508781 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2762C>A (p.Ser921Tyr) single nucleotide variant Cardiomyopathy [RCV000770210]|Dilated cardiomyopathy 1JJ [RCV001855724] Chr6:112141409 [GRCh38]
Chr6:112462611 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.572G>A (p.Gly191Glu) single nucleotide variant Cardiomyopathy [RCV000769206]|Dilated cardiomyopathy 1JJ [RCV001312249] Chr6:112191782 [GRCh38]
Chr6:112512984 [GRCh37]
Chr6:6q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.4606G>C (p.Gly1536Arg) single nucleotide variant Cardiomyopathy [RCV000769191]|Dilated cardiomyopathy 1JJ [RCV001309616] Chr6:112120342 [GRCh38]
Chr6:112441545 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3147T>C (p.Ser1049=) single nucleotide variant Cardiomyopathy [RCV000769197]|Cardiovascular phenotype [RCV002325463]|Dilated cardiomyopathy 1JJ [RCV001497476] Chr6:112139255 [GRCh38]
Chr6:112460457 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2917C>T (p.Leu973=) single nucleotide variant Cardiomyopathy [RCV000769199] Chr6:112140819 [GRCh38]
Chr6:112462021 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.738C>T (p.Gly246=) single nucleotide variant Cardiomyopathy [RCV000769202] Chr6:112189186 [GRCh38]
Chr6:112510388 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.633T>C (p.Asn211=) single nucleotide variant Cardiomyopathy [RCV000769205]|Dilated cardiomyopathy 1JJ [RCV003768310] Chr6:112191721 [GRCh38]
Chr6:112512923 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2719G>A (p.Val907Ile) single nucleotide variant Cardiomyopathy [RCV000770212]|Cardiovascular phenotype [RCV002424763]|Dilated cardiomyopathy 1JJ [RCV001855988]|LAMA4-related condition [RCV003396336] Chr6:112141452 [GRCh38]
Chr6:112462654 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2226C>T (p.Asn742=) single nucleotide variant Cardiomyopathy [RCV000770213]|Dilated cardiomyopathy 1JJ [RCV001516419]|not provided [RCV000869114] Chr6:112148284 [GRCh38]
Chr6:112469486 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1726C>G (p.Leu576Val) single nucleotide variant Cardiomyopathy [RCV000770217]|Dilated cardiomyopathy 1JJ [RCV002536608] Chr6:112158823 [GRCh38]
Chr6:112480025 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1507G>A (p.Glu503Lys) single nucleotide variant Cardiomyopathy [RCV000770221] Chr6:112172655 [GRCh38]
Chr6:112493857 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1455G>T (p.Leu485Phe) single nucleotide variant Cardiomyopathy [RCV000770222]|Cardiovascular phenotype [RCV002388389]|Dilated cardiomyopathy 1JJ [RCV002493403]|not provided [RCV001759451] Chr6:112172707 [GRCh38]
Chr6:112493909 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+88_2173+91del microsatellite not provided [RCV000832306] Chr6:112150420..112150423 [GRCh38]
Chr6:112471622..112471625 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.966+308C>T single nucleotide variant not provided [RCV000827956] Chr6:112187142 [GRCh38]
Chr6:112508344 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1357+312T>A single nucleotide variant not provided [RCV000827957] Chr6:112175001 [GRCh38]
Chr6:112496203 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.298-213A>T single nucleotide variant not provided [RCV000831965] Chr6:112207358 [GRCh38]
Chr6:112528559 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.298-135T>C single nucleotide variant not provided [RCV000831966] Chr6:112207280 [GRCh38]
Chr6:112528481 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1817+42G>A single nucleotide variant not provided [RCV000831967] Chr6:112158690 [GRCh38]
Chr6:112479892 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3111-155C>T single nucleotide variant not provided [RCV000831968] Chr6:112139446 [GRCh38]
Chr6:112460648 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3414+169A>G single nucleotide variant not provided [RCV000831969] Chr6:112135954 [GRCh38]
Chr6:112457156 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3414+180T>A single nucleotide variant not provided [RCV000831970] Chr6:112135943 [GRCh38]
Chr6:112457145 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2494-115A>G single nucleotide variant not provided [RCV000834007] Chr6:112142407 [GRCh38]
Chr6:112463609 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1829G>A (p.Ser610Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000802712] Chr6:112155695 [GRCh38]
Chr6:112476897 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2667+245A>G single nucleotide variant not provided [RCV000837557] Chr6:112141874 [GRCh38]
Chr6:112463076 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3483G>A (p.Met1161Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000804501] Chr6:112134541 [GRCh38]
Chr6:112455743 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1077+64C>T single nucleotide variant not provided [RCV000832272] Chr6:112185173 [GRCh38]
Chr6:112506375 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2056+196G>A single nucleotide variant not provided [RCV000832273] Chr6:112154655 [GRCh38]
Chr6:112475857 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2668-177C>T single nucleotide variant not provided [RCV000832310] Chr6:112141680 [GRCh38]
Chr6:112462882 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5206+59C>A single nucleotide variant not provided [RCV000832311] Chr6:112114604 [GRCh38]
Chr6:112435807 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2057-210T>C single nucleotide variant not provided [RCV000835798] Chr6:112150837 [GRCh38]
Chr6:112472039 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.967-228C>A single nucleotide variant not provided [RCV000839528] Chr6:112185575 [GRCh38]
Chr6:112506777 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4475+125C>T single nucleotide variant not provided [RCV000831999] Chr6:112121889 [GRCh38]
Chr6:112443092 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1190-132C>T single nucleotide variant not provided [RCV000836035] Chr6:112175612 [GRCh38]
Chr6:112496814 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+286C>T single nucleotide variant not provided [RCV000832116] Chr6:112184951 [GRCh38]
Chr6:112506153 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4223C>T (p.Pro1408Leu) single nucleotide variant Cardiovascular phenotype [RCV002332628]|Dilated cardiomyopathy 1JJ [RCV000801333]|LAMA4-related condition [RCV003392606] Chr6:112128986 [GRCh38]
Chr6:112450188 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1595T>C (p.Met532Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000794622] Chr6:112165233 [GRCh38]
Chr6:112486435 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2057-176T>C single nucleotide variant not provided [RCV000832305] Chr6:112150803 [GRCh38]
Chr6:112472005 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5113-239C>A single nucleotide variant not provided [RCV000838116] Chr6:112114995 [GRCh38]
Chr6:112436198 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.298-247T>G single nucleotide variant not provided [RCV000838172] Chr6:112207392 [GRCh38]
Chr6:112528593 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1817+111G>A single nucleotide variant not provided [RCV000834691] Chr6:112158621 [GRCh38]
Chr6:112479823 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.423-202C>T single nucleotide variant not provided [RCV000834716] Chr6:112201890 [GRCh38]
Chr6:112523091 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.966+135A>G single nucleotide variant not provided [RCV000834717] Chr6:112187315 [GRCh38]
Chr6:112508517 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1189+78C>T single nucleotide variant not provided [RCV000834718] Chr6:112178043 [GRCh38]
Chr6:112499245 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1166A>G (p.His389Arg) single nucleotide variant Cardiovascular phenotype [RCV002458468]|Dilated cardiomyopathy 1JJ [RCV000801598] Chr6:112178144 [GRCh38]
Chr6:112499346 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2611C>T (p.Arg871Trp) single nucleotide variant Cardiovascular phenotype [RCV002453796]|Dilated cardiomyopathy 1JJ [RCV000805265] Chr6:112142175 [GRCh38]
Chr6:112463377 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3558-2A>T single nucleotide variant not provided [RCV000998670] Chr6:112133489 [GRCh38]
Chr6:112454691 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.503+93G>T single nucleotide variant not provided [RCV000834860] Chr6:112201515 [GRCh38]
Chr6:112522716 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.815-36T>C single nucleotide variant not provided [RCV000834861] Chr6:112187637 [GRCh38]
Chr6:112508839 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.371G>A (p.Gly124Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001320467]|not provided [RCV000786335] Chr6:112207072 [GRCh38]
Chr6:112528273 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4134-74C>G single nucleotide variant not provided [RCV000830302] Chr6:112129149 [GRCh38]
Chr6:112450351 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4234C>T (p.Leu1412Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000795729]|not provided [RCV001772052] Chr6:112128975 [GRCh38]
Chr6:112450177 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2057-129A>G single nucleotide variant not provided [RCV000835014] Chr6:112150756 [GRCh38]
Chr6:112471958 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1552-184A>G single nucleotide variant not provided [RCV000835023] Chr6:112165460 [GRCh38]
Chr6:112486662 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.966+144A>T single nucleotide variant not provided [RCV000835029] Chr6:112187306 [GRCh38]
Chr6:112508508 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2416C>G (p.Arg806Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000818359] Chr6:112144871 [GRCh38]
Chr6:112466073 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+251C>G single nucleotide variant not provided [RCV000843762] Chr6:112150260 [GRCh38]
Chr6:112471462 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3415-316_3415-313del deletion not provided [RCV000843763] Chr6:112134922..112134925 [GRCh38]
Chr6:112456124..112456127 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3835-258C>T single nucleotide variant not provided [RCV000843764] Chr6:112131359 [GRCh38]
Chr6:112452561 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3969-312T>A single nucleotide variant not provided [RCV000843766] Chr6:112130352 [GRCh38]
Chr6:112451554 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4666-277G>A single nucleotide variant not provided [RCV000843767] Chr6:112119588 [GRCh38]
Chr6:112440791 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5327-301C>A single nucleotide variant not provided [RCV000843769] Chr6:112109883 [GRCh38]
Chr6:112431086 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2354-323A>G single nucleotide variant not provided [RCV000830650] Chr6:112145256 [GRCh38]
Chr6:112466458 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4681G>A (p.Glu1561Lys) single nucleotide variant Cardiovascular phenotype [RCV002332625]|Dilated cardiomyopathy 1JJ [RCV000800373] Chr6:112119296 [GRCh38]
Chr6:112440499 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2056+70G>A single nucleotide variant not provided [RCV000835121] Chr6:112154781 [GRCh38]
Chr6:112475983 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2354-114dup duplication not provided [RCV000835122] Chr6:112145042..112145043 [GRCh38]
Chr6:112466244..112466245 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2668-153A>C single nucleotide variant not provided [RCV000835123] Chr6:112141656 [GRCh38]
Chr6:112462858 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.503+49C>A single nucleotide variant not provided [RCV000835255] Chr6:112201559 [GRCh38]
Chr6:112522760 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.967-57A>G single nucleotide variant not provided [RCV000835256] Chr6:112185404 [GRCh38]
Chr6:112506606 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4287+7G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001421074] Chr6:112128915 [GRCh38]
Chr6:112450117 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2056+194del deletion not provided [RCV000833924] Chr6:112154657 [GRCh38]
Chr6:112475859 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4171T>C (p.Tyr1391His) single nucleotide variant Cardiovascular phenotype [RCV002332821]|Dilated cardiomyopathy 1JJ [RCV000871160]|LAMA4-related condition [RCV003895319] Chr6:112129038 [GRCh38]
Chr6:112450240 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2977-16T>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002062207]|not provided [RCV000827124]|not specified [RCV003479228] Chr6:112139901 [GRCh38]
Chr6:112461103 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2056+40G>T single nucleotide variant not provided [RCV000830545] Chr6:112154811 [GRCh38]
Chr6:112476013 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5298G>A (p.Arg1766=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581766] Chr6:112114104 [GRCh38]
Chr6:112435307 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.328T>G (p.Cys110Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000813547]|not provided [RCV002223251] Chr6:112207115 [GRCh38]
Chr6:112528316 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.298-179C>A single nucleotide variant not provided [RCV000833666] Chr6:112207324 [GRCh38]
Chr6:112528525 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3111-48C>T single nucleotide variant not provided [RCV000830300] Chr6:112139339 [GRCh38]
Chr6:112460541 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4475+83C>T single nucleotide variant not provided [RCV000830303] Chr6:112121931 [GRCh38]
Chr6:112443134 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3696+13C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741219]|not provided [RCV000828017] Chr6:112133336 [GRCh38]
Chr6:112454538 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1078-222C>A single nucleotide variant not provided [RCV000838090] Chr6:112178454 [GRCh38]
Chr6:112499656 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5112+245C>T single nucleotide variant not provided [RCV000838096] Chr6:112115618 [GRCh38]
Chr6:112436821 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4476-80del deletion not provided [RCV000830546] Chr6:112120552 [GRCh38]
Chr6:112441755 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.298-267T>C single nucleotide variant not provided [RCV000831061] Chr6:112207412 [GRCh38]
Chr6:112528613 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.422+312C>T single nucleotide variant not provided [RCV000831062] Chr6:112206709 [GRCh38]
Chr6:112527910 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.842C>T (p.Thr281Ile) single nucleotide variant not provided [RCV000998671] Chr6:112187574 [GRCh38]
Chr6:112508776 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1078-201A>T single nucleotide variant not provided [RCV000835030] Chr6:112178433 [GRCh38]
Chr6:112499635 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1668+155A>T single nucleotide variant not provided [RCV000835031] Chr6:112165005 [GRCh38]
Chr6:112486207 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4475+114T>C single nucleotide variant not provided [RCV000835032] Chr6:112121900 [GRCh38]
Chr6:112443103 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5113-137C>T single nucleotide variant not provided [RCV000835033] Chr6:112114893 [GRCh38]
Chr6:112436096 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.503+88A>C single nucleotide variant not provided [RCV000835047] Chr6:112201520 [GRCh38]
Chr6:112522721 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2813+70C>T single nucleotide variant not provided [RCV000835124] Chr6:112141288 [GRCh38]
Chr6:112462490 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4822-192A>G single nucleotide variant not provided [RCV000835139] Chr6:112118090 [GRCh38]
Chr6:112439293 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1582G>A (p.Glu528Lys) single nucleotide variant Cardiovascular phenotype [RCV002397727]|Dilated cardiomyopathy 1JJ [RCV000822678] Chr6:112165246 [GRCh38]
Chr6:112486448 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2174-180A>T single nucleotide variant not provided [RCV000834719] Chr6:112148516 [GRCh38]
Chr6:112469718 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5113-166G>A single nucleotide variant not provided [RCV000834721] Chr6:112114922 [GRCh38]
Chr6:112436125 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1677A>G (p.Ser559=) single nucleotide variant not provided [RCV000841605] Chr6:112158872 [GRCh38]
Chr6:112480074 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2174-28A>C single nucleotide variant not provided [RCV000835413] Chr6:112148364 [GRCh38]
Chr6:112469566 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2493+125del deletion not provided [RCV000835799] Chr6:112144669 [GRCh38]
Chr6:112465871 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2493+214A>G single nucleotide variant not provided [RCV000835800] Chr6:112144580 [GRCh38]
Chr6:112465782 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2667+118A>G single nucleotide variant not provided [RCV000835801] Chr6:112142001 [GRCh38]
Chr6:112463203 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3110+116A>C single nucleotide variant not provided [RCV000835802] Chr6:112139636 [GRCh38]
Chr6:112460838 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5327-178T>C single nucleotide variant not provided [RCV000835803] Chr6:112109760 [GRCh38]
Chr6:112430963 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4821+160C>A single nucleotide variant not provided [RCV000832001] Chr6:112118996 [GRCh38]
Chr6:112440199 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4821+219C>G single nucleotide variant not provided [RCV000832002] Chr6:112118937 [GRCh38]
Chr6:112440140 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4822-156G>C single nucleotide variant not provided [RCV000832003] Chr6:112118054 [GRCh38]
Chr6:112439257 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5206+70C>G single nucleotide variant not provided [RCV000832004] Chr6:112114593 [GRCh38]
Chr6:112435796 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5206+184C>T single nucleotide variant not provided [RCV000832005] Chr6:112114479 [GRCh38]
Chr6:112435682 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.815-13G>C single nucleotide variant not provided [RCV000842171] Chr6:112187614 [GRCh38]
Chr6:112508816 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1801G>A (p.Ala601Thr) single nucleotide variant Cardiovascular phenotype [RCV002406719]|Dilated cardiomyopathy 1JJ [RCV000791215] Chr6:112158748 [GRCh38]
Chr6:112479950 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2494-199C>T single nucleotide variant not provided [RCV000832309] Chr6:112142491 [GRCh38]
Chr6:112463693 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4475+74G>T single nucleotide variant not provided [RCV000833017] Chr6:112121940 [GRCh38]
Chr6:112443143 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4821+37T>G single nucleotide variant not provided [RCV000833018] Chr6:112119119 [GRCh38]
Chr6:112440322 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.196-191T>C single nucleotide variant not provided [RCV000833136] Chr6:112216660 [GRCh38]
Chr6:112537861 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1817+168GTTG[5] microsatellite not provided [RCV000834763] Chr6:112158541..112158544 [GRCh38]
Chr6:112479743..112479746 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2813+206del deletion not provided [RCV000835125] Chr6:112141152 [GRCh38]
Chr6:112462354 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.163G>T (p.Val55Leu) single nucleotide variant Cardiovascular phenotype [RCV002400254]|Dilated cardiomyopathy 1JJ [RCV001044400]|not provided [RCV001563255] Chr6:112253988 [GRCh38]
Chr6:112575190 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1669-253del deletion not provided [RCV000843759] Chr6:112159133 [GRCh38]
Chr6:112480335 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2173+25C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001730716]|not provided [RCV000830299] Chr6:112150486 [GRCh38]
Chr6:112471688 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4981+29del deletion Dilated cardiomyopathy 1JJ [RCV001730717]|not provided [RCV000830304] Chr6:112117710 [GRCh38]
Chr6:112438913 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5206+1G>A single nucleotide variant Cardiovascular phenotype [RCV002334460]|Dilated cardiomyopathy 1JJ [RCV001071062]|not provided [RCV000786155] Chr6:112114662 [GRCh38]
Chr6:112435865 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.967-34C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001730715]|not provided [RCV000830297] Chr6:112185381 [GRCh38]
Chr6:112506583 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1960-61A>G single nucleotide variant not provided [RCV000830298] Chr6:112155008 [GRCh38]
Chr6:112476210 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4134-243A>G single nucleotide variant not provided [RCV000830301] Chr6:112129318 [GRCh38]
Chr6:112450520 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.503+71C>G single nucleotide variant not provided [RCV000832928] Chr6:112201537 [GRCh38]
Chr6:112522738 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.967-13C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581733]|not specified [RCV000825180] Chr6:112185360 [GRCh38]
Chr6:112506562 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.422+313A>G single nucleotide variant not provided [RCV000831063] Chr6:112206708 [GRCh38]
Chr6:112527909 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1078-195T>A single nucleotide variant not provided [RCV000833857] Chr6:112178427 [GRCh38]
Chr6:112499629 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1190-165C>T single nucleotide variant not provided [RCV000833858] Chr6:112175645 [GRCh38]
Chr6:112496847 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1669-286_1669-285del deletion not provided [RCV000843757] Chr6:112159165..112159166 [GRCh38]
Chr6:112480367..112480368 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4066G>C (p.Gly1356Arg) single nucleotide variant Cardiovascular phenotype [RCV003372851]|Dilated cardiomyopathy 1JJ [RCV000796559] Chr6:112129943 [GRCh38]
Chr6:112451145 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3558-14A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002067490]|not provided [RCV000829164] Chr6:112133501 [GRCh38]
Chr6:112454703 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.966+78C>G single nucleotide variant not provided [RCV000834666] Chr6:112187372 [GRCh38]
Chr6:112508574 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1818-231C>G single nucleotide variant not provided [RCV000838091] Chr6:112155937 [GRCh38]
Chr6:112477139 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5254A>G (p.Asn1752Asp) single nucleotide variant Cardiovascular phenotype [RCV002345760]|Dilated cardiomyopathy 1JJ [RCV000796863] Chr6:112114148 [GRCh38]
Chr6:112435351 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.298-104T>C single nucleotide variant not provided [RCV000834714] Chr6:112207249 [GRCh38]
Chr6:112528450 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.422+210G>C single nucleotide variant not provided [RCV000834715] Chr6:112206811 [GRCh38]
Chr6:112528012 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3696+109C>T single nucleotide variant not provided [RCV000834720] Chr6:112133240 [GRCh38]
Chr6:112454442 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5113-111_5113-110del deletion not provided [RCV000835048] Chr6:112114866..112114867 [GRCh38]
Chr6:112436069..112436070 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4288-7T>C single nucleotide variant not provided [RCV000895962] Chr6:112122208 [GRCh38]
Chr6:112443411 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.297+72T>C single nucleotide variant not provided [RCV000831964] Chr6:112216296 [GRCh38]
Chr6:112537497 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4287+211G>A single nucleotide variant not provided [RCV000831971] Chr6:112128711 [GRCh38]
Chr6:112449913 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1551+279G>A single nucleotide variant not provided [RCV000831985] Chr6:112172332 [GRCh38]
Chr6:112493534 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4476-153T>C single nucleotide variant not provided [RCV000832000] Chr6:112120625 [GRCh38]
Chr6:112441828 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5207-49_5207-47dup duplication not provided [RCV000832006] Chr6:112114241..112114242 [GRCh38]
Chr6:112435444..112435445 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5327-101A>G single nucleotide variant not provided [RCV000832007] Chr6:112109683 [GRCh38]
Chr6:112430886 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.297+260T>C single nucleotide variant not provided [RCV000832038] Chr6:112216108 [GRCh38]
Chr6:112537309 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2353+180A>G single nucleotide variant not provided [RCV000832307] Chr6:112147977 [GRCh38]
Chr6:112469179 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2494-209dup duplication not provided [RCV000832308] Chr6:112142492..112142493 [GRCh38]
Chr6:112463694..112463695 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4821+245A>G single nucleotide variant not provided [RCV000839087] Chr6:112118911 [GRCh38]
Chr6:112440114 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.196-304A>G single nucleotide variant not provided [RCV000827955] Chr6:112216773 [GRCh38]
Chr6:112537974 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3283-3C>G single nucleotide variant Cardiomyopathy [RCV001170689]|Cardiovascular phenotype [RCV002325610]|Dilated cardiomyopathy 1JJ [RCV000817754]|not provided [RCV001766726] Chr6:112136257 [GRCh38]
Chr6:112457459 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:112352198-112457238)x3 copy number gain not provided [RCV000847368] Chr6:112352198..112457238 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_112465986)_(112476918_?)del deletion Dilated cardiomyopathy 1JJ [RCV001032817] Chr6:112465986..112476918 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1 copy number loss not provided [RCV000848701] Chr6:110981075..119608396 [GRCh37]
Chr6:6q21-22.31		 pathogenic
NM_001105206.3(LAMA4):c.123G>A (p.Ala41=) single nucleotide variant Cardiovascular phenotype [RCV003169160]|Dilated cardiomyopathy 1JJ [RCV001426003] Chr6:112254028 [GRCh38]
Chr6:112575230 [GRCh37]
Chr6:6q21		 likely benign
GRCh37/hg19 6q21(chr6:112421899-112461960)x1 copy number loss not provided [RCV000849802] Chr6:112421899..112461960 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1444A>G (p.Asn482Asp) single nucleotide variant Cardiovascular phenotype [RCV002393449]|Dilated cardiomyopathy 1JJ [RCV001876265]|not provided [RCV001553113]|not specified [RCV001195330] Chr6:112172718 [GRCh38]
Chr6:112493920 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.4365_4366del (p.His1456fs) microsatellite Dilated cardiomyopathy 1JJ [RCV001214016] Chr6:112122123..112122124 [GRCh38]
Chr6:112443326..112443327 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3754T>A (p.Ser1252Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001248047] Chr6:112132833 [GRCh38]
Chr6:112454035 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4243A>G (p.Lys1415Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001213712] Chr6:112128966 [GRCh38]
Chr6:112450168 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4288-3T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001202922] Chr6:112122204 [GRCh38]
Chr6:112443407 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2593A>G (p.Met865Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001222499] Chr6:112142193 [GRCh38]
Chr6:112463395 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2514T>G (p.Phe838Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001223916] Chr6:112142272 [GRCh38]
Chr6:112463474 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1295G>A (p.Ser432Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001231875] Chr6:112175375 [GRCh38]
Chr6:112496577 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2667+4A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001223057] Chr6:112142115 [GRCh38]
Chr6:112463317 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4715T>G (p.Leu1572Arg) single nucleotide variant Cardiovascular phenotype [RCV002327586]|Dilated cardiomyopathy 1JJ [RCV001242897]|not provided [RCV002245899] Chr6:112119262 [GRCh38]
Chr6:112440465 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3550C>T (p.Gln1184Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001237642] Chr6:112134474 [GRCh38]
Chr6:112455676 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2134C>T (p.Leu712Phe) single nucleotide variant Cardiovascular phenotype [RCV002418770]|Dilated cardiomyopathy 1JJ [RCV001223036] Chr6:112150550 [GRCh38]
Chr6:112471752 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.221C>A (p.Thr74Asn) single nucleotide variant Cardiovascular phenotype [RCV002418775]|Dilated cardiomyopathy 1JJ [RCV001223949] Chr6:112216444 [GRCh38]
Chr6:112537645 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3137G>A (p.Arg1046Gln) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001245985] Chr6:112139265 [GRCh38]
Chr6:112460467 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1808A>T (p.Glu603Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001210559] Chr6:112158741 [GRCh38]
Chr6:112479943 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1835A>T (p.Asp612Val) single nucleotide variant Cardiovascular phenotype [RCV003373032]|Dilated cardiomyopathy 1JJ [RCV001210379] Chr6:112155689 [GRCh38]
Chr6:112476891 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4505G>T (p.Arg1502Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001238850] Chr6:112120443 [GRCh38]
Chr6:112441646 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.205G>T (p.Ala69Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001207719] Chr6:112216460 [GRCh38]
Chr6:112537661 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+5A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001219218] Chr6:112253951 [GRCh38]
Chr6:112575153 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3980T>C (p.Ile1327Thr) single nucleotide variant Cardiovascular phenotype [RCV002356905]|Dilated cardiomyopathy 1JJ [RCV001212341] Chr6:112130029 [GRCh38]
Chr6:112451231 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3175G>C (p.Val1059Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001202379] Chr6:112139227 [GRCh38]
Chr6:112460429 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.362C>T (p.Ser121Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001233901] Chr6:112207081 [GRCh38]
Chr6:112528282 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3095_3103del (p.Ser1032_Pro1034del) deletion Cardiomyopathy [RCV001170691] Chr6:112139759..112139767 [GRCh38]
Chr6:112460961..112460969 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.475G>A (p.Glu159Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001882674]|not provided [RCV001569131] Chr6:112201636 [GRCh38]
Chr6:112522837 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_112508632)_(112508823_?)del deletion Dilated cardiomyopathy 1JJ [RCV003107617] Chr6:112508632..112508823 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+275_2173+276del deletion not provided [RCV001570046] Chr6:112150235..112150236 [GRCh38]
Chr6:112471437..112471438 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2493+47C>T single nucleotide variant not provided [RCV001548364] Chr6:112144747 [GRCh38]
Chr6:112465949 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2353+237_2353+238del microsatellite not provided [RCV001560447] Chr6:112147919..112147920 [GRCh38]
Chr6:112469121..112469122 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.297+102C>T single nucleotide variant not provided [RCV001715628] Chr6:112216266 [GRCh38]
Chr6:112537467 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1817+254dup duplication not provided [RCV001583606] Chr6:112158470..112158471 [GRCh38]
Chr6:112479672..112479673 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2056+169C>T single nucleotide variant not provided [RCV001555361] Chr6:112154682 [GRCh38]
Chr6:112475884 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2173+275_2173+282del deletion not provided [RCV001659623] Chr6:112150229..112150236 [GRCh38]
Chr6:112471431..112471438 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2056+185dup duplication not provided [RCV001612252] Chr6:112154656..112154657 [GRCh38]
Chr6:112475858..112475859 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.504-107G>A single nucleotide variant not provided [RCV001637362] Chr6:112191957 [GRCh38]
Chr6:112513159 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4287+16G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002539687]|not provided [RCV001726620]|not specified [RCV001699625] Chr6:112128906 [GRCh38]
Chr6:112450108 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2173+277GT[19] microsatellite not provided [RCV001556923] Chr6:112150202..112150203 [GRCh38]
Chr6:112471404..112471405 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1552-38A>G single nucleotide variant not provided [RCV001586437] Chr6:112165314 [GRCh38]
Chr6:112486516 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4134-127CA[6] microsatellite not provided [RCV001557330] Chr6:112129189..112129190 [GRCh38]
Chr6:112450391..112450392 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002496030]|not provided [RCV001700593] Chr6:112139753 [GRCh38]
Chr6:112460955 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4401G>A (p.Glu1467=) single nucleotide variant Cardiovascular phenotype [RCV002329682]|Dilated cardiomyopathy 1JJ [RCV002573215]|not provided [RCV001571545] Chr6:112122088 [GRCh38]
Chr6:112443291 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3697-106A>G single nucleotide variant not provided [RCV001577964] Chr6:112132996 [GRCh38]
Chr6:112454198 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3969-296CA[13] microsatellite not provided [RCV001609119] Chr6:112130301..112130310 [GRCh38]
Chr6:112451503..112451512 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3296G>T (p.Arg1099Ile) single nucleotide variant not provided [RCV001702157] Chr6:112136241 [GRCh38]
Chr6:112457443 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.815-153A>C single nucleotide variant not provided [RCV001674809] Chr6:112187754 [GRCh38]
Chr6:112508956 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3969-296CA[20] microsatellite not provided [RCV001694525] Chr6:112130300..112130301 [GRCh38]
Chr6:112451502..112451503 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.4133+269G>A single nucleotide variant not provided [RCV001590013] Chr6:112129607 [GRCh38]
Chr6:112450809 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1364G>T (p.Ser455Ile) single nucleotide variant Brugada syndrome [RCV000852565]|Dilated cardiomyopathy 1JJ [RCV001305785] Chr6:112172798 [GRCh38]
Chr6:112494000 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1962G>C (p.Ala654=) single nucleotide variant not provided [RCV000904779] Chr6:112154945 [GRCh38]
Chr6:112476147 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.373G>T (p.Ala125Ser) single nucleotide variant Cardiomyopathy [RCV001170906]|Cardiovascular phenotype [RCV002346081]|Dilated cardiomyopathy 1JJ [RCV001397967] Chr6:112207070 [GRCh38]
Chr6:112528271 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.1677A>C (p.Ser559=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001436707] Chr6:112158872 [GRCh38]
Chr6:112480074 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.123G>T (p.Ala41=) single nucleotide variant Cardiovascular phenotype [RCV002382204]|not provided [RCV000977703] Chr6:112254028 [GRCh38]
Chr6:112575230 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2668-4T>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001433254] Chr6:112141507 [GRCh38]
Chr6:112462709 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5335C>T (p.Leu1779=) single nucleotide variant Cardiovascular phenotype [RCV002346179]|not provided [RCV000976239] Chr6:112109574 [GRCh38]
Chr6:112430777 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.169C>T (p.Leu57=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV000932906] Chr6:112253982 [GRCh38]
Chr6:112575184 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4291G>T (p.Gly1431Trp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001242124] Chr6:112122198 [GRCh38]
Chr6:112443401 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.578C>T (p.Ser193Leu) single nucleotide variant Cardiovascular phenotype [RCV002357045]|Dilated cardiomyopathy 1JJ [RCV001245261]|not provided [RCV003128755] Chr6:112191776 [GRCh38]
Chr6:112512978 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1243G>A (p.Glu415Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001227854] Chr6:112175427 [GRCh38]
Chr6:112496629 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4183G>A (p.Val1395Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001045839] Chr6:112129026 [GRCh38]
Chr6:112450228 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5211T>C (p.Ile1737=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001426121] Chr6:112114191 [GRCh38]
Chr6:112435394 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2057-303G>T single nucleotide variant not provided [RCV001660859] Chr6:112150930 [GRCh38]
Chr6:112472132 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.815-317G>A single nucleotide variant not provided [RCV001557329] Chr6:112187918 [GRCh38]
Chr6:112509120 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3969-260_3969-259insC insertion not provided [RCV001657335] Chr6:112130299..112130300 [GRCh38]
Chr6:112451501..112451502 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1077+13G>C single nucleotide variant not specified [RCV003230949] Chr6:112185224 [GRCh38]
Chr6:112506426 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3969-296CA[21] microsatellite not provided [RCV001552756] Chr6:112130300..112130301 [GRCh38]
Chr6:112451502..112451503 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.196-297C>T single nucleotide variant not provided [RCV001669409] Chr6:112216766 [GRCh38]
Chr6:112537967 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1960-35G>C single nucleotide variant not provided [RCV001561227] Chr6:112154982 [GRCh38]
Chr6:112476184 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4982-162_4982-160del deletion not provided [RCV001561328] Chr6:112116153..112116155 [GRCh38]
Chr6:112437356..112437358 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.757G>A (p.Gly253Arg) single nucleotide variant Cardiovascular phenotype [RCV002388597]|Dilated cardiomyopathy 1JJ [RCV001865979]|not provided [RCV001561474] Chr6:112189167 [GRCh38]
Chr6:112510369 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2201C>T (p.Ser734Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002471567] Chr6:112148309 [GRCh38]
Chr6:112469511 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4134-113_4134-98del deletion not provided [RCV001677487] Chr6:112129173..112129188 [GRCh38]
Chr6:112450375..112450390 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.838C>A (p.Leu280Met) single nucleotide variant Cardiovascular phenotype [RCV002425006]|Dilated cardiomyopathy 1JJ [RCV002488426]|not provided [RCV001593571] Chr6:112187578 [GRCh38]
Chr6:112508780 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3540A>G (p.Pro1180=) single nucleotide variant not provided [RCV001723284] Chr6:112134484 [GRCh38]
Chr6:112455686 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.422+67_422+68insGTTTTGTTTC insertion not provided [RCV001638929] Chr6:112206953..112206954 [GRCh38]
Chr6:112528154..112528155 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3036T>C (p.Asn1012=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002568172]|not provided [RCV001529984] Chr6:112139826 [GRCh38]
Chr6:112461028 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1551+7C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002070465]|not provided [RCV001598278] Chr6:112172604 [GRCh38]
Chr6:112493806 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3697-93T>C single nucleotide variant not provided [RCV001715400] Chr6:112132983 [GRCh38]
Chr6:112454185 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2173+275_2173+284del microsatellite not provided [RCV001593895] Chr6:112150227..112150236 [GRCh38]
Chr6:112471429..112471438 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2056+185_2056+186dup duplication not provided [RCV001638572] Chr6:112154656..112154657 [GRCh38]
Chr6:112475858..112475859 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.247G>C (p.Asp83His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001050286] Chr6:112216418 [GRCh38]
Chr6:112537619 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2687G>T (p.Gly896Val) single nucleotide variant Cardiomyopathy [RCV001170692]|Inborn genetic diseases [RCV003259135] Chr6:112141484 [GRCh38]
Chr6:112462686 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.222C>G (p.Thr74=) single nucleotide variant Cardiomyopathy [RCV001170907]|Dilated cardiomyopathy 1JJ [RCV003581775] Chr6:112216443 [GRCh38]
Chr6:112537644 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3234A>G (p.Glu1078=) single nucleotide variant Cardiomyopathy [RCV001170690] Chr6:112139168 [GRCh38]
Chr6:112460370 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+277GT[13] microsatellite not provided [RCV001710612] Chr6:112150203..112150208 [GRCh38]
Chr6:112471405..112471410 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3414+323G>A single nucleotide variant not provided [RCV001695340] Chr6:112135800 [GRCh38]
Chr6:112457002 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.422+50TTTTG[4] microsatellite not provided [RCV001588390] Chr6:112206947..112206951 [GRCh38]
Chr6:112528148..112528152 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1552-269G>A single nucleotide variant not provided [RCV001586640] Chr6:112165545 [GRCh38]
Chr6:112486747 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2173+277GT[18] microsatellite not provided [RCV001650229] Chr6:112150202..112150203 [GRCh38]
Chr6:112471404..112471405 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1457C>A (p.Ser486Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001049889] Chr6:112172705 [GRCh38]
Chr6:112493907 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.815-13G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741268]|not provided [RCV001699727]|not specified [RCV001699728] Chr6:112187614 [GRCh38]
Chr6:112508816 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.2173+275C>G single nucleotide variant not provided [RCV001536226] Chr6:112150236 [GRCh38]
Chr6:112471438 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3969-261_3969-260insCACAC insertion not provided [RCV001651849] Chr6:112130300..112130301 [GRCh38]
Chr6:112451502..112451503 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1904G>A (p.Ser635Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001070057] Chr6:112155620 [GRCh38]
Chr6:112476822 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1552-198G>A single nucleotide variant not provided [RCV001588123] Chr6:112165474 [GRCh38]
Chr6:112486676 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter) insertion Dilated cardiomyopathy 1JJ [RCV003132514]|not provided [RCV001529893] Chr6:112178133..112178134 [GRCh38]
Chr6:112499335..112499336 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3415-332A>G single nucleotide variant not provided [RCV001695099] Chr6:112134941 [GRCh38]
Chr6:112456143 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2057-2A>T single nucleotide variant not provided [RCV001529037] Chr6:112150629 [GRCh38]
Chr6:112471831 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3969-296CA[17] microsatellite not provided [RCV001666741] Chr6:112130301..112130302 [GRCh38]
Chr6:112451503..112451504 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1402C>T (p.Arg468Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001229249]|Inborn genetic diseases [RCV002563720] Chr6:112172760 [GRCh38]
Chr6:112493962 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3308G>A (p.Arg1103His) single nucleotide variant Cardiovascular phenotype [RCV003380872]|Dilated cardiomyopathy 1JJ [RCV001202885]|not provided [RCV003322866] Chr6:112136229 [GRCh38]
Chr6:112457431 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4195_4200del (p.Leu1399_Tyr1400del) deletion Dilated cardiomyopathy 1JJ [RCV001208440] Chr6:112129009..112129014 [GRCh38]
Chr6:112450211..112450216 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.191C>T (p.Ala64Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001071502] Chr6:112253960 [GRCh38]
Chr6:112575162 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1567G>T (p.Val523Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001042533] Chr6:112165261 [GRCh38]
Chr6:112486463 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1604G>A (p.Ser535Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001042744] Chr6:112165224 [GRCh38]
Chr6:112486426 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2994C>A (p.Asn998Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001053249]|Inborn genetic diseases [RCV002553313] Chr6:112139868 [GRCh38]
Chr6:112461070 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.335A>G (p.Lys112Arg) single nucleotide variant Cardiovascular phenotype [RCV002320243]|Dilated cardiomyopathy 1JJ [RCV001039061] Chr6:112207108 [GRCh38]
Chr6:112528309 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1432C>A (p.Leu478Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001220027] Chr6:112172730 [GRCh38]
Chr6:112493932 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3103T>C (p.Cys1035Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001057590] Chr6:112139759 [GRCh38]
Chr6:112460961 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5440G>A (p.Ala1814Thr) single nucleotide variant Cardiovascular phenotype [RCV002348402]|Dilated cardiomyopathy 1JJ [RCV001051865] Chr6:112109469 [GRCh38]
Chr6:112430672 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1661T>C (p.Ile554Thr) single nucleotide variant Cardiovascular phenotype [RCV002400315]|Dilated cardiomyopathy 1JJ [RCV001055161] Chr6:112165167 [GRCh38]
Chr6:112486369 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4858A>G (p.Asn1620Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001059372] Chr6:112117862 [GRCh38]
Chr6:112439065 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1252G>A (p.Glu418Lys) single nucleotide variant Cardiovascular phenotype [RCV002365921]|Dilated cardiomyopathy 1JJ [RCV001204368] Chr6:112175418 [GRCh38]
Chr6:112496620 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4904_4905delinsAA (p.Phe1635Ter) indel Dilated cardiomyopathy 1JJ [RCV001041196] Chr6:112117815..112117816 [GRCh38]
Chr6:112439018..112439019 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3559G>A (p.Ala1187Thr) single nucleotide variant Cardiovascular phenotype [RCV002451249]|Dilated cardiomyopathy 1JJ [RCV001059512]|LAMA4-related condition [RCV003898064]|not provided [RCV001759813] Chr6:112133486 [GRCh38]
Chr6:112454688 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1842C>G (p.Asn614Lys) single nucleotide variant Cardiomyopathy [RCV001170696] Chr6:112155682 [GRCh38]
Chr6:112476884 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1696G>A (p.Asp566Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001213216] Chr6:112158853 [GRCh38]
Chr6:112480055 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4726G>C (p.Glu1576Gln) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001041230]|Inborn genetic diseases [RCV002551490] Chr6:112119251 [GRCh38]
Chr6:112440454 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4134-1G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001195750] Chr6:112129076 [GRCh38]
Chr6:112450278 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4255T>G (p.Leu1419Val) single nucleotide variant Cardiovascular phenotype [RCV003160426]|Dilated cardiomyopathy 1JJ [RCV001053875]|not provided [RCV001724218] Chr6:112128954 [GRCh38]
Chr6:112450156 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2267C>T (p.Ala756Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001228776] Chr6:112148243 [GRCh38]
Chr6:112469445 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4505G>A (p.Arg1502His) single nucleotide variant Cardiovascular phenotype [RCV002327299]|Dilated cardiomyopathy 1JJ [RCV001050094] Chr6:112120443 [GRCh38]
Chr6:112441646 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2054C>T (p.Ser685Phe) single nucleotide variant Cardiovascular phenotype [RCV002418532]|Dilated cardiomyopathy 1JJ [RCV001064671]|not provided [RCV001760037] Chr6:112154853 [GRCh38]
Chr6:112476055 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2195G>A (p.Gly732Glu) single nucleotide variant Cardiomyopathy [RCV001170694]|Dilated cardiomyopathy 1JJ [RCV002557470] Chr6:112148315 [GRCh38]
Chr6:112469517 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5383C>T (p.His1795Tyr) single nucleotide variant Cardiovascular phenotype [RCV002348414]|Dilated cardiomyopathy 1JJ [RCV001055666] Chr6:112109526 [GRCh38]
Chr6:112430729 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2603C>G (p.Pro868Arg) single nucleotide variant Cardiovascular phenotype [RCV002429874]|Dilated cardiomyopathy 1JJ [RCV001204980] Chr6:112142183 [GRCh38]
Chr6:112463385 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4869C>T (p.Leu1623=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001000633] Chr6:112117851 [GRCh38]
Chr6:112439054 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1357C>G (p.Leu453Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001047865] Chr6:112175313 [GRCh38]
Chr6:112496515 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1127A>G (p.Asp376Gly) single nucleotide variant Cardiovascular phenotype [RCV002429651]|Dilated cardiomyopathy 1JJ [RCV001052360]|not provided [RCV001772261] Chr6:112178183 [GRCh38]
Chr6:112499385 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1510G>A (p.Asp504Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001204673] Chr6:112172652 [GRCh38]
Chr6:112493854 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4982-6C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001204674] Chr6:112115999 [GRCh38]
Chr6:112437202 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4665+6T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001197297] Chr6:112120277 [GRCh38]
Chr6:112441480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5384A>C (p.His1795Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001048410] Chr6:112109525 [GRCh38]
Chr6:112430728 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3721G>A (p.Gly1241Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001063220] Chr6:112132866 [GRCh38]
Chr6:112454068 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3 copy number gain Microcephaly [RCV001251053] Chr6:101296547..117004249 [GRCh37]
Chr6:6q16.3-22.1		 pathogenic
GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1 copy number loss Deletion 6q16 q21 [RCV001263224] Chr6:98949950..114533905 [GRCh37]
Chr6:6q16.1-21		 pathogenic
NM_001105206.3(LAMA4):c.3415A>G (p.Ile1139Val) single nucleotide variant Inborn genetic diseases [RCV001265854] Chr6:112134609 [GRCh38]
Chr6:112455811 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3697-3C>T single nucleotide variant Cardiovascular phenotype [RCV002458576]|Dilated cardiomyopathy 1JJ [RCV002032820]|not provided [RCV001765172] Chr6:112132893 [GRCh38]
Chr6:112454095 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.196-344G>A single nucleotide variant not provided [RCV001580842] Chr6:112216813 [GRCh38]
Chr6:112538014 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1318C>G (p.Arg440Gly) single nucleotide variant Cardiovascular phenotype [RCV002379958]|Dilated cardiomyopathy 1JJ [RCV001879921]|not provided [RCV001254954] Chr6:112175352 [GRCh38]
Chr6:112496554 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3362A>G (p.His1121Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001304800] Chr6:112136175 [GRCh38]
Chr6:112457377 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3557+83C>T single nucleotide variant not provided [RCV001581332] Chr6:112134384 [GRCh38]
Chr6:112455586 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5288T>C (p.Ile1763Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001312710] Chr6:112114114 [GRCh38]
Chr6:112435317 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.795C>A (p.Gly265=) single nucleotide variant Cardiovascular phenotype [RCV002421262]|Dilated cardiomyopathy 1JJ [RCV003581802]|not provided [RCV001765510] Chr6:112189129 [GRCh38]
Chr6:112510331 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.200G>A (p.Cys67Tyr) single nucleotide variant not provided [RCV001529905] Chr6:112216465 [GRCh38]
Chr6:112537666 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2977-156A>G single nucleotide variant not provided [RCV001568096] Chr6:112140041 [GRCh38]
Chr6:112461243 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4135G>A (p.Val1379Met) single nucleotide variant Cardiovascular phenotype [RCV003375234]|Dilated cardiomyopathy 1JJ [RCV001338737] Chr6:112129074 [GRCh38]
Chr6:112450276 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5440G>T (p.Ala1814Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001295620] Chr6:112109469 [GRCh38]
Chr6:112430672 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.133del (p.Gln45fs) deletion Cardiovascular phenotype [RCV002384455]|Dilated cardiomyopathy 1JJ [RCV001339472] Chr6:112254018 [GRCh38]
Chr6:112575220 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1525A>C (p.Thr509Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001308368] Chr6:112172637 [GRCh38]
Chr6:112493839 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3283-1G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001314608] Chr6:112136255 [GRCh38]
Chr6:112457457 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.188C>T (p.Ala63Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001362930]|Primary dilated cardiomyopathy [RCV001293181] Chr6:112253963 [GRCh38]
Chr6:112575165 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.4646A>T (p.Asn1549Ile) single nucleotide variant Cardiovascular phenotype [RCV002341650]|Dilated cardiomyopathy 1JJ [RCV001318114] Chr6:112120302 [GRCh38]
Chr6:112441505 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.763T>C (p.Cys255Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001351250] Chr6:112189161 [GRCh38]
Chr6:112510363 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4008G>C (p.Lys1336Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001351769] Chr6:112130001 [GRCh38]
Chr6:112451203 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.910G>A (p.Gly304Arg) single nucleotide variant Cardiovascular phenotype [RCV002375408]|Dilated cardiomyopathy 1JJ [RCV001317534] Chr6:112187506 [GRCh38]
Chr6:112508708 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3406T>C (p.Tyr1136His) single nucleotide variant Cardiovascular phenotype [RCV002456485]|Dilated cardiomyopathy 1JJ [RCV001342176] Chr6:112136131 [GRCh38]
Chr6:112457333 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4705A>T (p.Ile1569Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001348783] Chr6:112119272 [GRCh38]
Chr6:112440475 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3356C>A (p.Pro1119His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001294733]|not provided [RCV001732115] Chr6:112136181 [GRCh38]
Chr6:112457383 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4492C>T (p.Arg1498Cys) single nucleotide variant Cardiovascular phenotype [RCV002329339]|Dilated cardiomyopathy 1JJ [RCV001349249] Chr6:112120456 [GRCh38]
Chr6:112441659 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1696G>C (p.Asp566His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001334032] Chr6:112158853 [GRCh38]
Chr6:112480055 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4968A>G (p.Gly1656=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001300052]|not provided [RCV001760349] Chr6:112117752 [GRCh38]
Chr6:112438955 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4576C>T (p.His1526Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001318666] Chr6:112120372 [GRCh38]
Chr6:112441575 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.509C>T (p.Ala170Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001324821] Chr6:112191845 [GRCh38]
Chr6:112513047 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.215T>C (p.Phe72Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001315145]|Inborn genetic diseases [RCV002545079] Chr6:112216450 [GRCh38]
Chr6:112537651 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1206G>T (p.Met402Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001300403] Chr6:112175464 [GRCh38]
Chr6:112496666 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.92C>T (p.Ala31Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001294978] Chr6:112254059 [GRCh38]
Chr6:112575261 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.406del (p.Leu136fs) deletion Cardiovascular phenotype [RCV002325723]|not provided [RCV002300858] Chr6:112207037 [GRCh38]
Chr6:112528238 [GRCh37]
Chr6:6q21		 pathogenic|uncertain significance
NM_001105206.3(LAMA4):c.3415-4C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001423211] Chr6:112134613 [GRCh38]
Chr6:112455815 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4981+1G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001306818] Chr6:112117738 [GRCh38]
Chr6:112438941 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.63C>G (p.Cys21Trp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001368030] Chr6:112254088 [GRCh38]
Chr6:112575290 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5093T>C (p.Val1698Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001338452] Chr6:112115882 [GRCh38]
Chr6:112437085 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21(chr6:109796301-113083437)x3 copy number gain See cases [RCV001353182] Chr6:109796301..113083437 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4198T>A (p.Tyr1400Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001358873] Chr6:112129011 [GRCh38]
Chr6:112450213 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2081C>G (p.Thr694Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001359295] Chr6:112150603 [GRCh38]
Chr6:112471805 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2626G>A (p.Glu876Lys) single nucleotide variant Cardiovascular phenotype [RCV002430106]|Dilated cardiomyopathy 1JJ [RCV001303044]|not provided [RCV001751581] Chr6:112142160 [GRCh38]
Chr6:112463362 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4249A>G (p.Lys1417Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001313165] Chr6:112128960 [GRCh38]
Chr6:112450162 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001359748]|not provided [RCV001700737] Chr6:112129001 [GRCh38]
Chr6:112450203 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4833C>G (p.Ile1611Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001306067] Chr6:112117887 [GRCh38]
Chr6:112439090 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5047G>A (p.Gly1683Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001315514] Chr6:112115928 [GRCh38]
Chr6:112437131 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1628C>T (p.Thr543Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001339693] Chr6:112165200 [GRCh38]
Chr6:112486402 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3664G>C (p.Gly1222Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001299907] Chr6:112133381 [GRCh38]
Chr6:112454583 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.784C>A (p.Pro262Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001301393] Chr6:112189140 [GRCh38]
Chr6:112510342 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.307C>G (p.Arg103Gly) single nucleotide variant Cardiovascular phenotype [RCV002319704]|Dilated cardiomyopathy 1JJ [RCV001371169] Chr6:112207136 [GRCh38]
Chr6:112528337 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5113-2A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001301550] Chr6:112114758 [GRCh38]
Chr6:112435961 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3337T>G (p.Phe1113Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001364987] Chr6:112136200 [GRCh38]
Chr6:112457402 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.308G>A (p.Arg103Gln) single nucleotide variant Cardiovascular phenotype [RCV002322279]|Dilated cardiomyopathy 1JJ [RCV001340831]|not provided [RCV001551150] Chr6:112207135 [GRCh38]
Chr6:112528336 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.764G>A (p.Cys255Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001345901] Chr6:112189160 [GRCh38]
Chr6:112510362 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4067G>C (p.Gly1356Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001338001] Chr6:112129942 [GRCh38]
Chr6:112451144 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4992C>G (p.Phe1664Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001320394] Chr6:112115983 [GRCh38]
Chr6:112437186 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.868T>C (p.Ser290Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001322177] Chr6:112187548 [GRCh38]
Chr6:112508750 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.673G>A (p.Ala225Thr) single nucleotide variant Cardiovascular phenotype [RCV002377430]|Dilated cardiomyopathy 1JJ [RCV001337156]|not provided [RCV001357700] Chr6:112191681 [GRCh38]
Chr6:112512883 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4665+6T>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001323435] Chr6:112120277 [GRCh38]
Chr6:112441480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5186G>A (p.Gly1729Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001372860] Chr6:112114683 [GRCh38]
Chr6:112435886 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1834G>A (p.Asp612Asn) single nucleotide variant Cardiovascular phenotype [RCV003166850]|Dilated cardiomyopathy 1JJ [RCV001319448] Chr6:112155690 [GRCh38]
Chr6:112476892 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.859G>T (p.Ala287Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001319463]|LAMA4-related condition [RCV003426044] Chr6:112187557 [GRCh38]
Chr6:112508759 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3667G>T (p.Val1223Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001321062] Chr6:112133378 [GRCh38]
Chr6:112454580 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.660G>C (p.Lys220Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001322528] Chr6:112191694 [GRCh38]
Chr6:112512896 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.518A>G (p.Tyr173Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001322543] Chr6:112191836 [GRCh38]
Chr6:112513038 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3577C>T (p.Pro1193Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001322585] Chr6:112133468 [GRCh38]
Chr6:112454670 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3304A>G (p.Met1102Val) single nucleotide variant Cardiovascular phenotype [RCV002447455]|Dilated cardiomyopathy 1JJ [RCV001359972] Chr6:112136233 [GRCh38]
Chr6:112457435 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.455C>G (p.Ala152Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001299696] Chr6:112201656 [GRCh38]
Chr6:112522857 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3841G>A (p.Val1281Met) single nucleotide variant Cardiovascular phenotype [RCV002366185]|Dilated cardiomyopathy 1JJ [RCV001322605] Chr6:112131095 [GRCh38]
Chr6:112452297 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.985G>C (p.Glu329Gln) single nucleotide variant Cardiovascular phenotype [RCV003382557]|Dilated cardiomyopathy 1JJ [RCV001364426] Chr6:112185329 [GRCh38]
Chr6:112506531 [GRCh37]
Chr6:6q21		 uncertain significance
NC_000006.11:g.(?_112465986)_(112476918_?)del deletion Dilated cardiomyopathy 1JJ [RCV001324435] Chr6:112465986..112476918 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3687del (p.Asp1230fs) deletion Dilated cardiomyopathy 1JJ [RCV001362491] Chr6:112133358 [GRCh38]
Chr6:112454560 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.868T>G (p.Ser290Ala) single nucleotide variant Cardiovascular phenotype [RCV002447396]|Dilated cardiomyopathy 1JJ [RCV001340489] Chr6:112187548 [GRCh38]
Chr6:112508750 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2739A>C (p.Lys913Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001359975] Chr6:112141432 [GRCh38]
Chr6:112462634 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5439C>T (p.Gly1813=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001367675] Chr6:112109470 [GRCh38]
Chr6:112430673 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1813A>G (p.Ser605Gly) single nucleotide variant Cardiovascular phenotype [RCV002412068]|Dilated cardiomyopathy 1JJ [RCV001340700]|not provided [RCV001762567] Chr6:112158736 [GRCh38]
Chr6:112479938 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.490C>T (p.Pro164Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001367004] Chr6:112201621 [GRCh38]
Chr6:112522822 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1867G>A (p.Ala623Thr) single nucleotide variant Cardiovascular phenotype [RCV002414078]|Dilated cardiomyopathy 1JJ [RCV001872004]|not specified [RCV001449769] Chr6:112155657 [GRCh38]
Chr6:112476859 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2668-6T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001369099] Chr6:112141509 [GRCh38]
Chr6:112462711 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1744C>G (p.Leu582Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001369200] Chr6:112158805 [GRCh38]
Chr6:112480007 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3696+1G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001341266] Chr6:112133348 [GRCh38]
Chr6:112454550 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4804G>A (p.Ala1602Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001358830] Chr6:112119173 [GRCh38]
Chr6:112440376 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4425A>G (p.Thr1475=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001395195] Chr6:112122064 [GRCh38]
Chr6:112443267 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4345C>T (p.Arg1449Trp) single nucleotide variant Cardiovascular phenotype [RCV002329380]|Dilated cardiomyopathy 1JJ [RCV001368766] Chr6:112122144 [GRCh38]
Chr6:112443347 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3096A>C (p.Ser1032=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001421633] Chr6:112139766 [GRCh38]
Chr6:112460968 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3060C>T (p.Asn1020=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001413770] Chr6:112139802 [GRCh38]
Chr6:112461004 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4033_4034del (p.Gln1345fs) deletion Dilated cardiomyopathy 1JJ [RCV001366076] Chr6:112129975..112129976 [GRCh38]
Chr6:112451177..112451178 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1331A>G (p.Asp444Gly) single nucleotide variant not provided [RCV001508198] Chr6:112175339 [GRCh38]
Chr6:112496541 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4977T>C (p.Val1659=) single nucleotide variant Cardiovascular phenotype [RCV002341970]|Dilated cardiomyopathy 1JJ [RCV001441162] Chr6:112117743 [GRCh38]
Chr6:112438946 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1275G>A (p.Lys425=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001492388] Chr6:112175395 [GRCh38]
Chr6:112496597 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2901G>A (p.Ser967=) single nucleotide variant Cardiovascular phenotype [RCV002439118]|Dilated cardiomyopathy 1JJ [RCV001470523] Chr6:112140835 [GRCh38]
Chr6:112462037 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3282+8A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001461957] Chr6:112139112 [GRCh38]
Chr6:112460314 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1419C>A (p.Val473=) single nucleotide variant Cardiovascular phenotype [RCV003298819]|Dilated cardiomyopathy 1JJ [RCV001471459] Chr6:112172743 [GRCh38]
Chr6:112493945 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2160A>G (p.Gln720=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001474392] Chr6:112150524 [GRCh38]
Chr6:112471726 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2977-4A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001439676] Chr6:112139889 [GRCh38]
Chr6:112461091 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4602T>C (p.Asn1534=) single nucleotide variant Cardiovascular phenotype [RCV002342027]|Dilated cardiomyopathy 1JJ [RCV001461263] Chr6:112120346 [GRCh38]
Chr6:112441549 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4311T>C (p.Pro1437=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001428006] Chr6:112122178 [GRCh38]
Chr6:112443381 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.474C>T (p.Asn158=) single nucleotide variant Cardiovascular phenotype [RCV002341993]|Dilated cardiomyopathy 1JJ [RCV001449202] Chr6:112201637 [GRCh38]
Chr6:112522838 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1782A>G (p.Ala594=) single nucleotide variant Cardiovascular phenotype [RCV002414069]|Dilated cardiomyopathy 1JJ [RCV001446777] Chr6:112158767 [GRCh38]
Chr6:112479969 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3930G>A (p.Gly1310=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001449319] Chr6:112131006 [GRCh38]
Chr6:112452208 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4982-9T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001405427] Chr6:112116002 [GRCh38]
Chr6:112437205 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2493+7G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001447139] Chr6:112144787 [GRCh38]
Chr6:112465989 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.719-4A>G single nucleotide variant Cardiovascular phenotype [RCV002377608]|Dilated cardiomyopathy 1JJ [RCV001401391] Chr6:112189209 [GRCh38]
Chr6:112510411 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1552-4G>A single nucleotide variant Cardiovascular phenotype [RCV002405055]|Dilated cardiomyopathy 1JJ [RCV001447379] Chr6:112165280 [GRCh38]
Chr6:112486482 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.298-5C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001445236] Chr6:112207150 [GRCh38]
Chr6:112528351 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001405940]|not provided [RCV001702896]|not specified [RCV001700741] Chr6:112144812 [GRCh38]
Chr6:112466014 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.693C>T (p.Asp231=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001436780]|not provided [RCV003426098] Chr6:112191661 [GRCh38]
Chr6:112512863 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3697-153A>G single nucleotide variant not provided [RCV001653301] Chr6:112133043 [GRCh38]
Chr6:112454245 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.672C>T (p.Cys224=) single nucleotide variant Cardiovascular phenotype [RCV002377860]|Dilated cardiomyopathy 1JJ [RCV001496219] Chr6:112191682 [GRCh38]
Chr6:112512884 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.354C>T (p.Ile118=) single nucleotide variant Cardiovascular phenotype [RCV002342097]|Dilated cardiomyopathy 1JJ [RCV001486588]|LAMA4-related condition [RCV003965986] Chr6:112207089 [GRCh38]
Chr6:112528290 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.423-168C>T single nucleotide variant not provided [RCV001581993] Chr6:112201856 [GRCh38]
Chr6:112523057 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5460T>C (p.Cys1820=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001496935] Chr6:112109449 [GRCh38]
Chr6:112430652 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4416T>C (p.Tyr1472=) single nucleotide variant Cardiovascular phenotype [RCV002329546]|Dilated cardiomyopathy 1JJ [RCV001466199] Chr6:112122073 [GRCh38]
Chr6:112443276 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1817+168GTTG[7] microsatellite not provided [RCV001715550] Chr6:112158540..112158541 [GRCh38]
Chr6:112479742..112479743 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.901G>A (p.Val301Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001452444] Chr6:112187515 [GRCh38]
Chr6:112508717 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5113-13C>T single nucleotide variant not provided [RCV001674003] Chr6:112114769 [GRCh38]
Chr6:112435972 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3558-302G>A single nucleotide variant not provided [RCV001591970] Chr6:112133789 [GRCh38]
Chr6:112454991 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1224G>A (p.Glu408=) single nucleotide variant Cardiovascular phenotype [RCV002343675]|Dilated cardiomyopathy 1JJ [RCV001497880] Chr6:112175446 [GRCh38]
Chr6:112496648 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+8T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001481118] Chr6:112185229 [GRCh38]
Chr6:112506431 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002496020]|not provided [RCV001699738] Chr6:112158771 [GRCh38]
Chr6:112479973 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3969-125C>A single nucleotide variant not provided [RCV001648082] Chr6:112130165 [GRCh38]
Chr6:112451367 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1419C>T (p.Val473=) single nucleotide variant Cardiovascular phenotype [RCV002396149]|Dilated cardiomyopathy 1JJ [RCV001481418] Chr6:112172743 [GRCh38]
Chr6:112493945 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1584A>G (p.Glu528=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001453707] Chr6:112165244 [GRCh38]
Chr6:112486446 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3360G>A (p.Val1120=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001425165] Chr6:112136177 [GRCh38]
Chr6:112457379 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.753A>G (p.Val251=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001495476] Chr6:112189171 [GRCh38]
Chr6:112510373 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3415-9C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001473630] Chr6:112134618 [GRCh38]
Chr6:112455820 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1078-10T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001496073] Chr6:112178242 [GRCh38]
Chr6:112499444 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2616G>A (p.Pro872=) single nucleotide variant Cardiovascular phenotype [RCV002432266]|Dilated cardiomyopathy 1JJ [RCV001455435] Chr6:112142170 [GRCh38]
Chr6:112463372 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2367C>T (p.Thr789=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001506193] Chr6:112144920 [GRCh38]
Chr6:112466122 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3750A>G (p.Lys1250=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001473914] Chr6:112132837 [GRCh38]
Chr6:112454039 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.939A>G (p.Glu313=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001461136] Chr6:112187477 [GRCh38]
Chr6:112508679 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.422+7C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001434363] Chr6:112207014 [GRCh38]
Chr6:112528215 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1066T>C (p.Leu356=) single nucleotide variant Cardiovascular phenotype [RCV002405024]|Dilated cardiomyopathy 1JJ [RCV001437153] Chr6:112185248 [GRCh38]
Chr6:112506450 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4226T>C (p.Leu1409Ser) single nucleotide variant not provided [RCV001508196] Chr6:112128983 [GRCh38]
Chr6:112450185 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5133T>C (p.Asn1711=) single nucleotide variant Cardiovascular phenotype [RCV003375293]|Dilated cardiomyopathy 1JJ [RCV001424331] Chr6:112114736 [GRCh38]
Chr6:112435939 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3661C>G (p.Leu1221Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001501320] Chr6:112133384 [GRCh38]
Chr6:112454586 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.504-20T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003108891] Chr6:112191870 [GRCh38]
Chr6:112513072 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4513C>T (p.His1505Tyr) single nucleotide variant not provided [RCV001761008] Chr6:112120435 [GRCh38]
Chr6:112441638 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2932G>A (p.Glu978Lys) single nucleotide variant not provided [RCV001763182] Chr6:112140804 [GRCh38]
Chr6:112462006 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2761T>G (p.Ser921Ala) single nucleotide variant not provided [RCV001758421] Chr6:112141410 [GRCh38]
Chr6:112462612 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2283C>G (p.Asn761Lys) single nucleotide variant Inborn genetic diseases [RCV002540411]|not provided [RCV001758526] Chr6:112148227 [GRCh38]
Chr6:112469429 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.667C>T (p.Arg223Cys) single nucleotide variant Cardiovascular phenotype [RCV002361026]|Dilated cardiomyopathy 1JJ [RCV001882881]|not provided [RCV001772855] Chr6:112191687 [GRCh38]
Chr6:112512889 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5004G>A (p.Leu1668=) single nucleotide variant Cardiomyopathy [RCV001799495]|Cardiovascular phenotype [RCV002343859]|Dilated cardiomyopathy 1JJ [RCV002077233] Chr6:112115971 [GRCh38]
Chr6:112437174 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2302C>T (p.His768Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002503229]|not provided [RCV001772961] Chr6:112148208 [GRCh38]
Chr6:112469410 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5342C>T (p.Pro1781Leu) single nucleotide variant not provided [RCV001774286] Chr6:112109567 [GRCh38]
Chr6:112430770 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1634G>A (p.Arg545His) single nucleotide variant Cardiovascular phenotype [RCV002388652]|Dilated cardiomyopathy 1JJ [RCV001885075]|not provided [RCV001774717] Chr6:112165194 [GRCh38]
Chr6:112486396 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.669T>C (p.Arg223=) single nucleotide variant not provided [RCV001776611] Chr6:112191685 [GRCh38]
Chr6:112512887 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2096G>A (p.Gly699Asp) single nucleotide variant Cardiovascular phenotype [RCV002421267]|not provided [RCV001752647] Chr6:112150588 [GRCh38]
Chr6:112471790 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1297C>T (p.Arg433Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002032782]|not provided [RCV001757925] Chr6:112175373 [GRCh38]
Chr6:112496575 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3343T>C (p.Phe1115Leu) single nucleotide variant not provided [RCV001770721] Chr6:112136194 [GRCh38]
Chr6:112457396 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.227C>T (p.Ser76Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001868580]|not provided [RCV001769061] Chr6:112216438 [GRCh38]
Chr6:112537639 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3415-3C>A single nucleotide variant not provided [RCV001767236] Chr6:112134612 [GRCh38]
Chr6:112455814 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1227T>G (p.His409Gln) single nucleotide variant not provided [RCV001760885] Chr6:112175443 [GRCh38]
Chr6:112496645 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4274G>A (p.Ser1425Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581803]|not provided [RCV001758404] Chr6:112128935 [GRCh38]
Chr6:112450137 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2853T>A (p.Ser951Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001870639] Chr6:112140883 [GRCh38]
Chr6:112462085 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3468G>T (p.Arg1156Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001982686] Chr6:112134556 [GRCh38]
Chr6:112455758 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3110+10A>C single nucleotide variant Cardiomyopathy [RCV001799494] Chr6:112139742 [GRCh38]
Chr6:112460944 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1408C>G (p.Leu470Val) single nucleotide variant not provided [RCV001760842] Chr6:112172754 [GRCh38]
Chr6:112493956 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3126_3140delinsT (p.Thr1043fs) indel not provided [RCV001756855] Chr6:112139262..112139276 [GRCh38]
Chr6:112460464..112460478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1411T>C (p.Phe471Leu) single nucleotide variant Cardiovascular phenotype [RCV002388648]|Dilated cardiomyopathy 1JJ [RCV001882911]|not provided [RCV001758733] Chr6:112172751 [GRCh38]
Chr6:112493953 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.452G>A (p.Gly151Glu) single nucleotide variant not provided [RCV001758262] Chr6:112201659 [GRCh38]
Chr6:112522860 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3708A>T (p.Arg1236Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001802540] Chr6:112132879 [GRCh38]
Chr6:112454081 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3454G>A (p.Val1152Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001863709] Chr6:112134570 [GRCh38]
Chr6:112455772 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2906A>G (p.Asp969Gly) single nucleotide variant Cardiovascular phenotype [RCV002440993]|Dilated cardiomyopathy 1JJ [RCV001893426] Chr6:112140830 [GRCh38]
Chr6:112462032 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4321C>T (p.Pro1441Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001988105] Chr6:112122168 [GRCh38]
Chr6:112443371 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2185C>G (p.Gln729Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001873880] Chr6:112148325 [GRCh38]
Chr6:112469527 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4435C>T (p.Arg1479Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001950044] Chr6:112122054 [GRCh38]
Chr6:112443257 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.718+6G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001895781] Chr6:112191630 [GRCh38]
Chr6:112512832 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1531G>A (p.Ala511Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002045142] Chr6:112172631 [GRCh38]
Chr6:112493833 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2186A>C (p.Gln729Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001988140] Chr6:112148324 [GRCh38]
Chr6:112469526 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2195G>T (p.Gly732Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002025293] Chr6:112148315 [GRCh38]
Chr6:112469517 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4245A>G (p.Lys1415=) single nucleotide variant Cardiovascular phenotype [RCV002331570]|Dilated cardiomyopathy 1JJ [RCV002008603] Chr6:112128964 [GRCh38]
Chr6:112450166 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.4346G>A (p.Arg1449Gln) single nucleotide variant Cardiovascular phenotype [RCV002331489]|Dilated cardiomyopathy 1JJ [RCV001987274] Chr6:112122143 [GRCh38]
Chr6:112443346 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2057G>C (p.Ser686Thr) single nucleotide variant Cardiovascular phenotype [RCV002422962]|Dilated cardiomyopathy 1JJ [RCV001890511] Chr6:112150627 [GRCh38]
Chr6:112471829 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+12A>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001967037] Chr6:112150499 [GRCh38]
Chr6:112471701 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.196-1G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002044485] Chr6:112216470 [GRCh38]
Chr6:112537671 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4883T>G (p.Ile1628Ser) single nucleotide variant Cardiovascular phenotype [RCV002334900]|Dilated cardiomyopathy 1JJ [RCV001929135]|not provided [RCV003167260] Chr6:112117837 [GRCh38]
Chr6:112439040 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3218C>G (p.Thr1073Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002023178] Chr6:112139184 [GRCh38]
Chr6:112460386 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.422+4A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001964959] Chr6:112207017 [GRCh38]
Chr6:112528218 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2543C>T (p.Ser848Leu) single nucleotide variant Cardiovascular phenotype [RCV002458892]|Dilated cardiomyopathy 1JJ [RCV001965966] Chr6:112142243 [GRCh38]
Chr6:112463445 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5393T>G (p.Ile1798Ser) single nucleotide variant Cardiovascular phenotype [RCV002343900]|Dilated cardiomyopathy 1JJ [RCV001872088] Chr6:112109516 [GRCh38]
Chr6:112430719 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.247G>A (p.Asp83Asn) single nucleotide variant Cardiovascular phenotype [RCV002449462]|Dilated cardiomyopathy 1JJ [RCV002042315] Chr6:112216418 [GRCh38]
Chr6:112537619 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4901C>T (p.Thr1634Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001968232] Chr6:112117819 [GRCh38]
Chr6:112439022 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.937G>A (p.Glu313Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002020578] Chr6:112187479 [GRCh38]
Chr6:112508681 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4505del (p.Arg1502fs) deletion Dilated cardiomyopathy 1JJ [RCV001964688] Chr6:112120443 [GRCh38]
Chr6:112441646 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687) copy number loss not specified [RCV002053595] Chr6:85988428..120548687 [GRCh37]
Chr6:6q14.3-22.31		 pathogenic
NM_001105206.3(LAMA4):c.1069G>A (p.Val357Ile) single nucleotide variant Cardiovascular phenotype [RCV002397773]|Dilated cardiomyopathy 1JJ [RCV002039259] Chr6:112185245 [GRCh38]
Chr6:112506447 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3946A>G (p.Ile1316Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001946080] Chr6:112130990 [GRCh38]
Chr6:112452192 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3518T>C (p.Ile1173Thr) single nucleotide variant Cardiovascular phenotype [RCV002458970]|Dilated cardiomyopathy 1JJ [RCV002042769] Chr6:112134506 [GRCh38]
Chr6:112455708 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3313G>A (p.Gly1105Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001986507] Chr6:112136224 [GRCh38]
Chr6:112457426 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3557+4A>G single nucleotide variant Cardiovascular phenotype [RCV003375412]|Dilated cardiomyopathy 1JJ [RCV001927221] Chr6:112134463 [GRCh38]
Chr6:112455665 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1394A>G (p.Asn465Ser) single nucleotide variant Cardiovascular phenotype [RCV002386789]|Dilated cardiomyopathy 1JJ [RCV001987604] Chr6:112172768 [GRCh38]
Chr6:112493970 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3541G>A (p.Glu1181Lys) single nucleotide variant Cardiovascular phenotype [RCV003303323]|Dilated cardiomyopathy 1JJ [RCV001891378] Chr6:112134483 [GRCh38]
Chr6:112455685 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1536_1551+2dup duplication Dilated cardiomyopathy 1JJ [RCV001987300] Chr6:112172608..112172609 [GRCh38]
Chr6:112493810..112493811 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1883A>G (p.Glu628Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001983566] Chr6:112155641 [GRCh38]
Chr6:112476843 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.575del (p.Asn192fs) deletion Dilated cardiomyopathy 1JJ [RCV001946144] Chr6:112191779 [GRCh38]
Chr6:112512981 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2939_2940del (p.Thr980fs) microsatellite Dilated cardiomyopathy 1JJ [RCV001894180] Chr6:112140796..112140797 [GRCh38]
Chr6:112461998..112461999 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3829T>C (p.Ser1277Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001871255] Chr6:112132758 [GRCh38]
Chr6:112453960 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3964A>G (p.Thr1322Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002021214]|Inborn genetic diseases [RCV002548825] Chr6:112130972 [GRCh38]
Chr6:112452174 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1994A>C (p.His665Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001947498]|not provided [RCV003325585] Chr6:112154913 [GRCh38]
Chr6:112476115 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3046A>C (p.Ile1016Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001945990] Chr6:112139816 [GRCh38]
Chr6:112461018 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4663G>T (p.Asp1555Tyr) single nucleotide variant Cardiovascular phenotype [RCV003375525]|Dilated cardiomyopathy 1JJ [RCV002006232] Chr6:112120285 [GRCh38]
Chr6:112441488 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3436G>A (p.Asp1146Asn) single nucleotide variant Cardiovascular phenotype [RCV002331538]|Dilated cardiomyopathy 1JJ [RCV001965618] Chr6:112134588 [GRCh38]
Chr6:112455790 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q21-22.1(chr6:110472732-114762836) copy number loss not specified [RCV002053609] Chr6:110472732..114762836 [GRCh37]
Chr6:6q21-22.1		 uncertain significance
NM_001105206.3(LAMA4):c.4393G>T (p.Ala1465Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002040917] Chr6:112122096 [GRCh38]
Chr6:112443299 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1103A>G (p.Gln368Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001894066] Chr6:112178207 [GRCh38]
Chr6:112499409 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1310T>C (p.Phe437Ser) single nucleotide variant Cardiovascular phenotype [RCV003303301]|Dilated cardiomyopathy 1JJ [RCV001890972] Chr6:112175360 [GRCh38]
Chr6:112496562 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2309A>G (p.Asp770Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002023615]|not provided [RCV002508334] Chr6:112148201 [GRCh38]
Chr6:112469403 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1818-3C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002007124] Chr6:112155709 [GRCh38]
Chr6:112476911 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2600C>A (p.Pro867His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002005505] Chr6:112142186 [GRCh38]
Chr6:112463388 [GRCh37]
Chr6:6q21		 uncertain significance
GRCh37/hg19 6q15-22.2(chr6:92054891-118329651) copy number loss not specified [RCV002053598] Chr6:92054891..118329651 [GRCh37]
Chr6:6q15-22.2		 pathogenic
NM_001105206.3(LAMA4):c.2832G>T (p.Lys944Asn) single nucleotide variant Cardiovascular phenotype [RCV002440944]|Dilated cardiomyopathy 1JJ [RCV001947117] Chr6:112140904 [GRCh38]
Chr6:112462106 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1817+6_1817+13del deletion Dilated cardiomyopathy 1JJ [RCV001894194] Chr6:112158719..112158726 [GRCh38]
Chr6:112479921..112479928 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3793A>G (p.Thr1265Ala) single nucleotide variant Cardiovascular phenotype [RCV003164189]|Dilated cardiomyopathy 1JJ [RCV001894654]|not provided [RCV002224102] Chr6:112132794 [GRCh38]
Chr6:112453996 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1423C>G (p.Leu475Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001966023]|Inborn genetic diseases [RCV002564426] Chr6:112172739 [GRCh38]
Chr6:112493941 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.57_59dup (p.Ala20dup) duplication Cardiovascular phenotype [RCV003167124]|Dilated cardiomyopathy 1JJ [RCV001910002] Chr6:112254091..112254092 [GRCh38]
Chr6:112575293..112575294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5062G>A (p.Gly1688Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001967300] Chr6:112115913 [GRCh38]
Chr6:112437116 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1693A>T (p.Ile565Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001984804] Chr6:112158856 [GRCh38]
Chr6:112480058 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3617A>G (p.Gln1206Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001910465] Chr6:112133428 [GRCh38]
Chr6:112454630 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1655A>G (p.Asp552Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002004293] Chr6:112165173 [GRCh38]
Chr6:112486375 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3307C>A (p.Arg1103Ser) single nucleotide variant Cardiovascular phenotype [RCV002324462]|Dilated cardiomyopathy 1JJ [RCV001999029] Chr6:112136230 [GRCh38]
Chr6:112457432 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3107C>A (p.Ala1036Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001885988] Chr6:112139755 [GRCh38]
Chr6:112460957 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1055A>G (p.Asp352Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001888063] Chr6:112185259 [GRCh38]
Chr6:112506461 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4899_4902del (p.Gln1633fs) deletion Dilated cardiomyopathy 1JJ [RCV001962007] Chr6:112117818..112117821 [GRCh38]
Chr6:112439021..112439024 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2568G>C (p.Lys856Asn) single nucleotide variant Cardiovascular phenotype [RCV002458858]|Dilated cardiomyopathy 1JJ [RCV001941399] Chr6:112142218 [GRCh38]
Chr6:112463420 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4059T>A (p.Phe1353Leu) single nucleotide variant Cardiovascular phenotype [RCV002370698]|Dilated cardiomyopathy 1JJ [RCV002020248] Chr6:112129950 [GRCh38]
Chr6:112451152 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.356G>A (p.Gly119Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001877978] Chr6:112207087 [GRCh38]
Chr6:112528288 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4742C>G (p.Pro1581Arg) single nucleotide variant Cardiovascular phenotype [RCV002337124]|Dilated cardiomyopathy 1JJ [RCV002019973] Chr6:112119235 [GRCh38]
Chr6:112440438 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.967-16A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001888253] Chr6:112185363 [GRCh38]
Chr6:112506565 [GRCh37]
Chr6:6q21		 conflicting interpretations of pathogenicity|uncertain significance
NM_001105206.3(LAMA4):c.898_900del (p.Ser300del) deletion Cardiovascular phenotype [RCV002370420]|Dilated cardiomyopathy 1JJ [RCV001883425] Chr6:112187516..112187518 [GRCh38]
Chr6:112508718..112508720 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.966+4C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001918439] Chr6:112187446 [GRCh38]
Chr6:112508648 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3332A>G (p.Tyr1111Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002027631] Chr6:112136205 [GRCh38]
Chr6:112457407 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3256G>A (p.Gly1086Ser) single nucleotide variant Cardiovascular phenotype [RCV002324506]|Dilated cardiomyopathy 1JJ [RCV002031690] Chr6:112139146 [GRCh38]
Chr6:112460348 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1559A>G (p.Gln520Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001943464]|not provided [RCV003481191] Chr6:112165269 [GRCh38]
Chr6:112486471 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5398G>A (p.Gly1800Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002035999] Chr6:112109511 [GRCh38]
Chr6:112430714 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.595T>A (p.Phe199Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002001051] Chr6:112191759 [GRCh38]
Chr6:112512961 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4768G>T (p.Gly1590Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001998797] Chr6:112119209 [GRCh38]
Chr6:112440412 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.343G>C (p.Asp115His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001902884] Chr6:112207100 [GRCh38]
Chr6:112528301 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1909G>A (p.Ala637Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001942561] Chr6:112155615 [GRCh38]
Chr6:112476817 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4199A>G (p.Tyr1400Cys) single nucleotide variant Cardiovascular phenotype [RCV002331447]|Dilated cardiomyopathy 1JJ [RCV001933372]|not provided [RCV003235619] Chr6:112129010 [GRCh38]
Chr6:112450212 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2044A>C (p.Lys682Gln) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002020232] Chr6:112154863 [GRCh38]
Chr6:112476065 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1837A>G (p.Met613Val) single nucleotide variant Cardiovascular phenotype [RCV002407089]|Dilated cardiomyopathy 1JJ [RCV001943812]|not provided [RCV003235622] Chr6:112155687 [GRCh38]
Chr6:112476889 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.188C>A (p.Ala63Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001989553] Chr6:112253963 [GRCh38]
Chr6:112575165 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4871A>G (p.Asn1624Ser) single nucleotide variant Cardiovascular phenotype [RCV002331635]|Dilated cardiomyopathy 1JJ [RCV002026804] Chr6:112117849 [GRCh38]
Chr6:112439052 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.51G>A (p.Trp17Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002050618] Chr6:112254100 [GRCh38]
Chr6:112575302 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2665A>C (p.Asn889His) single nucleotide variant Cardiovascular phenotype [RCV002458861]|Dilated cardiomyopathy 1JJ [RCV001992465] Chr6:112142121 [GRCh38]
Chr6:112463323 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4537G>A (p.Asp1513Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001975447] Chr6:112120411 [GRCh38]
Chr6:112441614 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2751T>G (p.Ile917Met) single nucleotide variant Cardiovascular phenotype [RCV002458969]|Dilated cardiomyopathy 1JJ [RCV002015711] Chr6:112141420 [GRCh38]
Chr6:112462622 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1519A>G (p.Arg507Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001953340] Chr6:112172643 [GRCh38]
Chr6:112493845 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3638A>G (p.Asn1213Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002051096] Chr6:112133407 [GRCh38]
Chr6:112454609 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3365T>C (p.Leu1122Pro) single nucleotide variant Cardiovascular phenotype [RCV002324256]|Dilated cardiomyopathy 1JJ [RCV001937456] Chr6:112136172 [GRCh38]
Chr6:112457374 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.972A>C (p.Lys324Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002050351] Chr6:112185342 [GRCh38]
Chr6:112506544 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3043del (p.Asp1014_Val1015insTer) deletion Dilated cardiomyopathy 1JJ [RCV002050573] Chr6:112139819 [GRCh38]
Chr6:112461021 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3119T>G (p.Leu1040Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002011692] Chr6:112139283 [GRCh38]
Chr6:112460485 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.422+6T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001924574] Chr6:112207015 [GRCh38]
Chr6:112528216 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+3A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001972988] Chr6:112253953 [GRCh38]
Chr6:112575155 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2114A>G (p.Lys705Arg) single nucleotide variant Cardiovascular phenotype [RCV003299063]|Dilated cardiomyopathy 1JJ [RCV001902050] Chr6:112150570 [GRCh38]
Chr6:112471772 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3694C>T (p.Leu1232Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001934170] Chr6:112133351 [GRCh38]
Chr6:112454553 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3917A>C (p.Gln1306Pro) single nucleotide variant Cardiovascular phenotype [RCV002352668]|Dilated cardiomyopathy 1JJ [RCV001979591] Chr6:112131019 [GRCh38]
Chr6:112452221 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1889T>G (p.Ile630Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001939879] Chr6:112155635 [GRCh38]
Chr6:112476837 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1959+3G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001915594] Chr6:112155562 [GRCh38]
Chr6:112476764 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5126T>C (p.Val1709Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001917059]|not provided [RCV002074439] Chr6:112114743 [GRCh38]
Chr6:112435946 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2615C>T (p.Pro872Leu) single nucleotide variant Cardiovascular phenotype [RCV002425347]|Dilated cardiomyopathy 1JJ [RCV001995152] Chr6:112142171 [GRCh38]
Chr6:112463373 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4616A>T (p.Lys1539Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001980472] Chr6:112120332 [GRCh38]
Chr6:112441535 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4671A>G (p.Ile1557Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001955377] Chr6:112119306 [GRCh38]
Chr6:112440509 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5194C>T (p.His1732Tyr) single nucleotide variant Cardiovascular phenotype [RCV002334871]|Dilated cardiomyopathy 1JJ [RCV001940158] Chr6:112114675 [GRCh38]
Chr6:112435878 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2635G>C (p.Asp879His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001901669] Chr6:112142151 [GRCh38]
Chr6:112463353 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.220A>G (p.Thr74Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002046835] Chr6:112216445 [GRCh38]
Chr6:112537646 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.373G>A (p.Ala125Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001997014] Chr6:112207070 [GRCh38]
Chr6:112528271 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4634A>C (p.Gln1545Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002026845] Chr6:112120314 [GRCh38]
Chr6:112441517 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.851T>C (p.Leu284Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001880878] Chr6:112187565 [GRCh38]
Chr6:112508767 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1318C>A (p.Arg440=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001884027] Chr6:112175352 [GRCh38]
Chr6:112496554 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5015T>C (p.Ile1672Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001938626] Chr6:112115960 [GRCh38]
Chr6:112437163 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3277A>G (p.Asn1093Asp) single nucleotide variant Cardiovascular phenotype [RCV002449521]|Dilated cardiomyopathy 1JJ [RCV001885763] Chr6:112139125 [GRCh38]
Chr6:112460327 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2198A>G (p.Gln733Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001886227] Chr6:112148312 [GRCh38]
Chr6:112469514 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1604del (p.Ser535fs) deletion Dilated cardiomyopathy 1JJ [RCV001997841] Chr6:112165224 [GRCh38]
Chr6:112486426 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.482A>T (p.Tyr161Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001920245] Chr6:112201629 [GRCh38]
Chr6:112522830 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.14C>T (p.Ser5Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001933311]|Inborn genetic diseases [RCV002556418] Chr6:112254137 [GRCh38]
Chr6:112575339 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4379C>T (p.Ser1460Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001864997] Chr6:112122110 [GRCh38]
Chr6:112443313 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4967G>T (p.Gly1656Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001958192]|not specified [RCV003155442] Chr6:112117753 [GRCh38]
Chr6:112438956 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.569G>A (p.Ser190Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001979484] Chr6:112191785 [GRCh38]
Chr6:112512987 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3842T>A (p.Val1281Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001897579] Chr6:112131094 [GRCh38]
Chr6:112452296 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4678C>T (p.Arg1560Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV001902265] Chr6:112119299 [GRCh38]
Chr6:112440502 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2625C>T (p.Thr875=) single nucleotide variant Cardiovascular phenotype [RCV002427593]|Dilated cardiomyopathy 1JJ [RCV002205633] Chr6:112142161 [GRCh38]
Chr6:112463363 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.333A>G (p.Glu111=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002085916] Chr6:112207110 [GRCh38]
Chr6:112528311 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3854C>T (p.Ser1285Leu) single nucleotide variant not provided [RCV002224233] Chr6:112131082 [GRCh38]
Chr6:112452284 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4982-8C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002105419] Chr6:112116001 [GRCh38]
Chr6:112437204 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2105_2106dup (p.Ala703Ter) duplication not provided [RCV002224358] Chr6:112150577..112150578 [GRCh38]
Chr6:112471779..112471780 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.815-2A>G single nucleotide variant not provided [RCV002224409] Chr6:112187603 [GRCh38]
Chr6:112508805 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.967-12A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002191064] Chr6:112185359 [GRCh38]
Chr6:112506561 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5058C>T (p.Val1686=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002072790] Chr6:112115917 [GRCh38]
Chr6:112437120 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.196-2A>C single nucleotide variant not provided [RCV002224381] Chr6:112216471 [GRCh38]
Chr6:112537672 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2668-13C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002209875] Chr6:112141516 [GRCh38]
Chr6:112462718 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3558-17C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002109042] Chr6:112133504 [GRCh38]
Chr6:112454706 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2465T>C (p.Ile822Thr) single nucleotide variant Cardiovascular phenotype [RCV003164316]|Dilated cardiomyopathy 1JJ [RCV003089180]|not provided [RCV002224603] Chr6:112144822 [GRCh38]
Chr6:112466024 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3969-16C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002146688] Chr6:112130056 [GRCh38]
Chr6:112451258 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1818-12G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002205330] Chr6:112155718 [GRCh38]
Chr6:112476920 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+11A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003089187]|not provided [RCV002224829] Chr6:112185226 [GRCh38]
Chr6:112506428 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3360G>C (p.Val1120=) single nucleotide variant Cardiovascular phenotype [RCV002324541]|Dilated cardiomyopathy 1JJ [RCV002188215] Chr6:112136177 [GRCh38]
Chr6:112457379 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4665+18A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002109281] Chr6:112120265 [GRCh38]
Chr6:112441468 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.719-15T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002167395] Chr6:112189220 [GRCh38]
Chr6:112510422 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4345C>A (p.Arg1449=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002109461] Chr6:112122144 [GRCh38]
Chr6:112443347 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4320T>C (p.Asp1440=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002147491] Chr6:112122169 [GRCh38]
Chr6:112443372 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2400T>C (p.Arg800=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002147585] Chr6:112144887 [GRCh38]
Chr6:112466089 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5412C>T (p.Ser1804=) single nucleotide variant Cardiovascular phenotype [RCV002346389]|Dilated cardiomyopathy 1JJ [RCV002206763] Chr6:112109497 [GRCh38]
Chr6:112430700 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2384T>C (p.Leu795Pro) single nucleotide variant not provided [RCV002224241] Chr6:112144903 [GRCh38]
Chr6:112466105 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4981+13A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002130249] Chr6:112117726 [GRCh38]
Chr6:112438929 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3794C>T (p.Thr1265Ile) single nucleotide variant not provided [RCV002224321] Chr6:112132793 [GRCh38]
Chr6:112453995 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.298-11T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002109949] Chr6:112207156 [GRCh38]
Chr6:112528357 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3414+18T>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002076459] Chr6:112136105 [GRCh38]
Chr6:112457307 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3414+13G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002132887] Chr6:112136110 [GRCh38]
Chr6:112457312 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2874A>G (p.Glu958=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002169055] Chr6:112140862 [GRCh38]
Chr6:112462064 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5207-13C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002147911] Chr6:112114208 [GRCh38]
Chr6:112435411 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.195+16C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002072868] Chr6:112253940 [GRCh38]
Chr6:112575142 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5469C>T (p.Ala1823=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002129514] Chr6:112109440 [GRCh38]
Chr6:112430643 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3213G>A (p.Gln1071=) single nucleotide variant Cardiovascular phenotype [RCV003161563]|Dilated cardiomyopathy 1JJ [RCV002091568] Chr6:112139189 [GRCh38]
Chr6:112460391 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1960-5T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002117291] Chr6:112154952 [GRCh38]
Chr6:112476154 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5207-16_5207-15del deletion Dilated cardiomyopathy 1JJ [RCV002153223] Chr6:112114210..112114211 [GRCh38]
Chr6:112435413..112435414 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2724T>C (p.Tyr908=) single nucleotide variant Cardiovascular phenotype [RCV003375571]|Dilated cardiomyopathy 1JJ [RCV002170038] Chr6:112141447 [GRCh38]
Chr6:112462649 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1621C>T (p.Leu541=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002117152] Chr6:112165207 [GRCh38]
Chr6:112486409 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4275del (p.Gln1426fs) deletion not provided [RCV002224215] Chr6:112128934 [GRCh38]
Chr6:112450136 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2979C>T (p.Leu993=) single nucleotide variant Cardiovascular phenotype [RCV002434466]|Dilated cardiomyopathy 1JJ [RCV002092974] Chr6:112139883 [GRCh38]
Chr6:112461085 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4710T>C (p.Asp1570=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002216131] Chr6:112119267 [GRCh38]
Chr6:112440470 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4330C>T (p.Leu1444=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002145634] Chr6:112122159 [GRCh38]
Chr6:112443362 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3111-19C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002170762] Chr6:112139310 [GRCh38]
Chr6:112460512 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1668+12C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002116161] Chr6:112165148 [GRCh38]
Chr6:112486350 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5112+15A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002077641] Chr6:112115848 [GRCh38]
Chr6:112437051 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3414+11T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002087251] Chr6:112136112 [GRCh38]
Chr6:112457314 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2553T>C (p.Ser851=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002204947] Chr6:112142233 [GRCh38]
Chr6:112463435 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4967G>A (p.Gly1656Glu) single nucleotide variant Cardiovascular phenotype [RCV003375606]|not provided [RCV002224223] Chr6:112117753 [GRCh38]
Chr6:112438956 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4666-14T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002174528] Chr6:112119325 [GRCh38]
Chr6:112440528 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4982-15T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002115638] Chr6:112116008 [GRCh38]
Chr6:112437211 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1803T>C (p.Ala601=) single nucleotide variant Cardiovascular phenotype [RCV002398198]|Dilated cardiomyopathy 1JJ [RCV002080667] Chr6:112158746 [GRCh38]
Chr6:112479948 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1647A>T (p.Ser549=) single nucleotide variant Cardiovascular phenotype [RCV002400347]|Dilated cardiomyopathy 1JJ [RCV002114989] Chr6:112165181 [GRCh38]
Chr6:112486383 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.3240A>C (p.Arg1080=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002096404] Chr6:112139162 [GRCh38]
Chr6:112460364 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.297+11G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002197083] Chr6:112216357 [GRCh38]
Chr6:112537558 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5382C>A (p.Arg1794=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002193599] Chr6:112109527 [GRCh38]
Chr6:112430730 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4176T>C (p.Thr1392=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002139560] Chr6:112129033 [GRCh38]
Chr6:112450235 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4665+14A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002158511] Chr6:112120269 [GRCh38]
Chr6:112441472 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.5112+11A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002100787] Chr6:112115852 [GRCh38]
Chr6:112437055 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3110+17A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002122398] Chr6:112139735 [GRCh38]
Chr6:112460937 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.2813+13C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002137006] Chr6:112141345 [GRCh38]
Chr6:112462547 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.915C>T (p.Ala305=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002123262] Chr6:112187501 [GRCh38]
Chr6:112508703 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4475+12C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002199709] Chr6:112122002 [GRCh38]
Chr6:112443205 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.196-5T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002161675] Chr6:112216474 [GRCh38]
Chr6:112537675 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5113-15T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002143339] Chr6:112114771 [GRCh38]
Chr6:112435974 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2813+7T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002083911] Chr6:112141351 [GRCh38]
Chr6:112462553 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2550C>T (p.Thr850=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002179920] Chr6:112142236 [GRCh38]
Chr6:112463438 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4665+7T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002098946] Chr6:112120276 [GRCh38]
Chr6:112441479 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.399C>T (p.Pro133=) single nucleotide variant Cardiovascular phenotype [RCV003303697]|Dilated cardiomyopathy 1JJ [RCV002157070] Chr6:112207044 [GRCh38]
Chr6:112528245 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.504-8del deletion Dilated cardiomyopathy 1JJ [RCV002082944] Chr6:112191858 [GRCh38]
Chr6:112513060 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3558-13C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002178996] Chr6:112133500 [GRCh38]
Chr6:112454702 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2056+12C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002154933] Chr6:112154839 [GRCh38]
Chr6:112476041 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2460G>A (p.Glu820=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002103487] Chr6:112144827 [GRCh38]
Chr6:112466029 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2544G>A (p.Ser848=) single nucleotide variant Cardiovascular phenotype [RCV002454460]|Dilated cardiomyopathy 1JJ [RCV002117690] Chr6:112142242 [GRCh38]
Chr6:112463444 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4134-18C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002081666] Chr6:112129093 [GRCh38]
Chr6:112450295 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+3450A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002200614] Chr6:112181787 [GRCh38]
Chr6:112502989 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.1817+7T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002141878] Chr6:112158725 [GRCh38]
Chr6:112479927 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2681A>T (p.Tyr894Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003116158] Chr6:112141490 [GRCh38]
Chr6:112462692 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5027T>G (p.Val1676Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003116225] Chr6:112115948 [GRCh38]
Chr6:112437151 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1158G>T (p.Glu386Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003112978] Chr6:112178152 [GRCh38]
Chr6:112499354 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2174G>C (p.Gly725Ala) single nucleotide variant not provided [RCV003237177] Chr6:112148336 [GRCh38]
Chr6:112469538 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5187C>T (p.Gly1729=) single nucleotide variant Cardiovascular phenotype [RCV003296621] Chr6:112114682 [GRCh38]
Chr6:112435885 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4663G>C (p.Asp1555His) single nucleotide variant Cardiovascular phenotype [RCV003296624] Chr6:112120285 [GRCh38]
Chr6:112441488 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2859T>C (p.Ser953=) single nucleotide variant Cardiovascular phenotype [RCV002435208]|Dilated cardiomyopathy 1JJ [RCV003102776] Chr6:112140877 [GRCh38]
Chr6:112462079 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.283T>C (p.Ser95Pro) single nucleotide variant Cardiovascular phenotype [RCV002435240] Chr6:112216382 [GRCh38]
Chr6:112537583 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1313C>G (p.Thr438Ser) single nucleotide variant not provided [RCV002261795] Chr6:112175357 [GRCh38]
Chr6:112496559 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5172G>T (p.Gln1724His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003096187]|not provided [RCV002276265] Chr6:112114697 [GRCh38]
Chr6:112435900 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.619G>A (p.Gly207Ser) single nucleotide variant Cardiovascular phenotype [RCV002366433] Chr6:112191735 [GRCh38]
Chr6:112512937 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4169G>A (p.Arg1390Gln) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003095902]|not provided [RCV002261794] Chr6:112129040 [GRCh38]
Chr6:112450242 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3768C>A (p.Gly1256=) single nucleotide variant Cardiovascular phenotype [RCV002349267] Chr6:112132819 [GRCh38]
Chr6:112454021 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3437A>G (p.Asp1146Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003096095]|not provided [RCV002269421] Chr6:112134587 [GRCh38]
Chr6:112455789 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1179T>A (p.Asp393Glu) single nucleotide variant Cardiovascular phenotype [RCV002366365] Chr6:112178131 [GRCh38]
Chr6:112499333 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2842A>G (p.Thr948Ala) single nucleotide variant Cardiovascular phenotype [RCV002434982] Chr6:112140894 [GRCh38]
Chr6:112462096 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.369G>T (p.Arg123Ser) single nucleotide variant Cardiovascular phenotype [RCV002348885] Chr6:112207074 [GRCh38]
Chr6:112528275 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1213T>C (p.Tyr405His) single nucleotide variant Cardiovascular phenotype [RCV002351489] Chr6:112175457 [GRCh38]
Chr6:112496659 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.998C>T (p.Ala333Val) single nucleotide variant Cardiovascular phenotype [RCV002387165]|Dilated cardiomyopathy 1JJ [RCV003581853] Chr6:112185316 [GRCh38]
Chr6:112506518 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.2266G>C (p.Ala756Pro) single nucleotide variant Cardiovascular phenotype [RCV002420208]|Dilated cardiomyopathy 1JJ [RCV003098746] Chr6:112148244 [GRCh38]
Chr6:112469446 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5232G>T (p.Gln1744His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002297494] Chr6:112114170 [GRCh38]
Chr6:112435373 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3639T>G (p.Asn1213Lys) single nucleotide variant Cardiovascular phenotype [RCV002452272] Chr6:112133406 [GRCh38]
Chr6:112454608 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1276A>G (p.Met426Val) single nucleotide variant Cardiovascular phenotype [RCV002419196] Chr6:112175394 [GRCh38]
Chr6:112496596 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.999C>T (p.Ala333=) single nucleotide variant Cardiovascular phenotype [RCV002387189]|Dilated cardiomyopathy 1JJ [RCV003094872] Chr6:112185315 [GRCh38]
Chr6:112506517 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1010T>C (p.Ile337Thr) single nucleotide variant Cardiovascular phenotype [RCV002387433]|Dilated cardiomyopathy 1JJ [RCV003103623] Chr6:112185304 [GRCh38]
Chr6:112506506 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3599G>A (p.Gly1200Glu) single nucleotide variant Cardiovascular phenotype [RCV002455050] Chr6:112133446 [GRCh38]
Chr6:112454648 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2625C>G (p.Thr875=) single nucleotide variant Cardiovascular phenotype [RCV002437144] Chr6:112142161 [GRCh38]
Chr6:112463363 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2049A>C (p.Ala683=) single nucleotide variant Cardiovascular phenotype [RCV002419712] Chr6:112154858 [GRCh38]
Chr6:112476060 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3790C>T (p.Arg1264Ter) single nucleotide variant Cardiovascular phenotype [RCV002351062] Chr6:112132797 [GRCh38]
Chr6:112453999 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3791G>A (p.Arg1264Gln) single nucleotide variant Cardiovascular phenotype [RCV002351084]|Dilated cardiomyopathy 1JJ [RCV003102443] Chr6:112132796 [GRCh38]
Chr6:112453998 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2603C>T (p.Pro868Leu) single nucleotide variant Cardiovascular phenotype [RCV002452853] Chr6:112142183 [GRCh38]
Chr6:112463385 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1357+4G>A single nucleotide variant Cardiovascular phenotype [RCV002387586] Chr6:112175309 [GRCh38]
Chr6:112496511 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3800A>C (p.Gln1267Pro) single nucleotide variant Cardiovascular phenotype [RCV002351124] Chr6:112132787 [GRCh38]
Chr6:112453989 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3805A>C (p.Asn1269His) single nucleotide variant Cardiovascular phenotype [RCV002351158] Chr6:112132782 [GRCh38]
Chr6:112453984 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1140C>A (p.His380Gln) single nucleotide variant Cardiovascular phenotype [RCV002437599] Chr6:112178170 [GRCh38]
Chr6:112499372 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2641T>C (p.Phe881Leu) single nucleotide variant Cardiovascular phenotype [RCV002452926] Chr6:112142145 [GRCh38]
Chr6:112463347 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.202A>G (p.Asn68Asp) single nucleotide variant Cardiovascular phenotype [RCV002419749]|Dilated cardiomyopathy 1JJ [RCV003581866] Chr6:112216463 [GRCh38]
Chr6:112537664 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3601T>G (p.Cys1201Gly) single nucleotide variant Cardiovascular phenotype [RCV002455091] Chr6:112133444 [GRCh38]
Chr6:112454646 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4940C>T (p.Thr1647Ile) single nucleotide variant Cardiovascular phenotype [RCV002351246] Chr6:112117780 [GRCh38]
Chr6:112438983 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3577C>A (p.Pro1193Thr) single nucleotide variant Cardiovascular phenotype [RCV002454893] Chr6:112133468 [GRCh38]
Chr6:112454670 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.194A>T (p.Glu65Val) single nucleotide variant Cardiovascular phenotype [RCV002421492] Chr6:112253957 [GRCh38]
Chr6:112575159 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.628A>C (p.Arg210=) single nucleotide variant Cardiovascular phenotype [RCV002368721] Chr6:112191726 [GRCh38]
Chr6:112512928 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5002T>G (p.Leu1668Val) single nucleotide variant Cardiovascular phenotype [RCV002351352]|Dilated cardiomyopathy 1JJ [RCV003102669] Chr6:112115973 [GRCh38]
Chr6:112437176 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1891G>C (p.Val631Leu) single nucleotide variant Cardiovascular phenotype [RCV002415105] Chr6:112155633 [GRCh38]
Chr6:112476835 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4154T>C (p.Val1385Ala) single nucleotide variant Cardiovascular phenotype [RCV002333080] Chr6:112129055 [GRCh38]
Chr6:112450257 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.107T>A (p.Ile36Asn) single nucleotide variant Cardiovascular phenotype [RCV002417496] Chr6:112254044 [GRCh38]
Chr6:112575246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2137A>G (p.Ser713Gly) single nucleotide variant Cardiovascular phenotype [RCV002417552] Chr6:112150547 [GRCh38]
Chr6:112471749 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1085A>C (p.Gln362Pro) single nucleotide variant Cardiovascular phenotype [RCV002412898] Chr6:112178225 [GRCh38]
Chr6:112499427 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5341C>T (p.Pro1781Ser) single nucleotide variant Cardiovascular phenotype [RCV002346793] Chr6:112109568 [GRCh38]
Chr6:112430771 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2189G>T (p.Arg730Leu) single nucleotide variant Cardiovascular phenotype [RCV002432673] Chr6:112148321 [GRCh38]
Chr6:112469523 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1101A>C (p.Gly367=) single nucleotide variant Cardiovascular phenotype [RCV002417617] Chr6:112178209 [GRCh38]
Chr6:112499411 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.22C>T (p.Arg8Cys) single nucleotide variant Cardiovascular phenotype [RCV002446302]|Dilated cardiomyopathy 1JJ [RCV003098792]|not provided [RCV002463209] Chr6:112254129 [GRCh38]
Chr6:112575331 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.3517A>G (p.Ile1173Val) single nucleotide variant Cardiovascular phenotype [RCV003164531]|Dilated cardiomyopathy 1JJ [RCV003120888]|not provided [RCV002306390] Chr6:112134507 [GRCh38]
Chr6:112455709 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1404C>T (p.Arg468=) single nucleotide variant Cardiovascular phenotype [RCV002381210] Chr6:112172758 [GRCh38]
Chr6:112493960 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.20G>C (p.Trp7Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002303956] Chr6:112254131 [GRCh38]
Chr6:112575333 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4568T>G (p.Phe1523Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002304035] Chr6:112120380 [GRCh38]
Chr6:112441583 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5053C>T (p.Leu1685=) single nucleotide variant Cardiovascular phenotype [RCV002335633] Chr6:112115922 [GRCh38]
Chr6:112437125 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2168A>G (p.Glu723Gly) single nucleotide variant Cardiovascular phenotype [RCV002430625] Chr6:112150516 [GRCh38]
Chr6:112471718 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.863C>T (p.Ala288Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002304165] Chr6:112187553 [GRCh38]
Chr6:112508755 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.56C>T (p.Ala19Val) single nucleotide variant not provided [RCV003234495] Chr6:112254095 [GRCh38]
Chr6:112575297 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4073C>T (p.Ser1358Leu) single nucleotide variant Cardiovascular phenotype [RCV002321297] Chr6:112129936 [GRCh38]
Chr6:112451138 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5080G>A (p.Glu1694Lys) single nucleotide variant Cardiovascular phenotype [RCV002335768] Chr6:112115895 [GRCh38]
Chr6:112437098 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.292T>C (p.Cys98Arg) single nucleotide variant Cardiovascular phenotype [RCV002440051] Chr6:112216373 [GRCh38]
Chr6:112537574 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4512C>G (p.Ser1504=) single nucleotide variant Cardiovascular phenotype [RCV002328624] Chr6:112120436 [GRCh38]
Chr6:112441639 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3833G>T (p.Gly1278Val) single nucleotide variant Cardiovascular phenotype [RCV002355259]|Dilated cardiomyopathy 1JJ [RCV003102452] Chr6:112132754 [GRCh38]
Chr6:112453956 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3217A>T (p.Thr1073Ser) single nucleotide variant Cardiovascular phenotype [RCV002322903] Chr6:112139185 [GRCh38]
Chr6:112460387 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4562C>T (p.Thr1521Ile) single nucleotide variant Cardiovascular phenotype [RCV002340113]|Dilated cardiomyopathy 1JJ [RCV003094748]|LAMA4-related condition [RCV003408242] Chr6:112120386 [GRCh38]
Chr6:112441589 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1386G>A (p.Arg462=) single nucleotide variant Cardiovascular phenotype [RCV002383580] Chr6:112172776 [GRCh38]
Chr6:112493978 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2017C>T (p.Leu673Phe) single nucleotide variant Cardiovascular phenotype [RCV002416993]|Dilated cardiomyopathy 1JJ [RCV003100993] Chr6:112154890 [GRCh38]
Chr6:112476092 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1056C>T (p.Asp352=) single nucleotide variant Cardiovascular phenotype [RCV002391851]|Dilated cardiomyopathy 1JJ [RCV003095135] Chr6:112185258 [GRCh38]
Chr6:112506460 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4827C>G (p.Asn1609Lys) single nucleotide variant Cardiovascular phenotype [RCV002337911]|Dilated cardiomyopathy 1JJ [RCV003096475] Chr6:112117893 [GRCh38]
Chr6:112439096 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1675T>C (p.Ser559Pro) single nucleotide variant Cardiovascular phenotype [RCV002403713]|Dilated cardiomyopathy 1JJ [RCV003774443] Chr6:112158874 [GRCh38]
Chr6:112480076 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2430C>T (p.Asn810=) single nucleotide variant Cardiovascular phenotype [RCV002450308] Chr6:112144857 [GRCh38]
Chr6:112466059 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2231C>T (p.Thr744Met) single nucleotide variant Cardiovascular phenotype [RCV002425859]|Dilated cardiomyopathy 1JJ [RCV003098716]|not provided [RCV003328703] Chr6:112148279 [GRCh38]
Chr6:112469481 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5138T>C (p.Ile1713Thr) single nucleotide variant Cardiovascular phenotype [RCV002336051] Chr6:112114731 [GRCh38]
Chr6:112435934 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3513A>G (p.Thr1171=) single nucleotide variant Cardiovascular phenotype [RCV002459032] Chr6:112134511 [GRCh38]
Chr6:112455713 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1669-16_1669-2del deletion Cardiovascular phenotype [RCV002395000] Chr6:112158882..112158896 [GRCh38]
Chr6:112480084..112480098 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.477A>G (p.Glu159=) single nucleotide variant Cardiovascular phenotype [RCV002337763] Chr6:112201634 [GRCh38]
Chr6:112522835 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4666-3C>T single nucleotide variant Cardiovascular phenotype [RCV002335044]|Dilated cardiomyopathy 1JJ [RCV003741307] Chr6:112119314 [GRCh38]
Chr6:112440517 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4119T>C (p.Asn1373=) single nucleotide variant Cardiovascular phenotype [RCV002323280] Chr6:112129890 [GRCh38]
Chr6:112451092 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5110C>G (p.Gln1704Glu) single nucleotide variant Cardiovascular phenotype [RCV002335917] Chr6:112115865 [GRCh38]
Chr6:112437068 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1070_1077+1delinsAGGAATTAGTAGAGGAATACA indel Cardiovascular phenotype [RCV002398741] Chr6:112185236..112185244 [GRCh38]
Chr6:112506438..112506446 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1197C>T (p.Asn399=) single nucleotide variant Cardiovascular phenotype [RCV002328378]|Dilated cardiomyopathy 1JJ [RCV003741304] Chr6:112175473 [GRCh38]
Chr6:112496675 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.953T>C (p.Ile318Thr) single nucleotide variant Cardiovascular phenotype [RCV002371634] Chr6:112187463 [GRCh38]
Chr6:112508665 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2611C>A (p.Arg871=) single nucleotide variant Cardiovascular phenotype [RCV002426144]|Dilated cardiomyopathy 1JJ [RCV003581871] Chr6:112142175 [GRCh38]
Chr6:112463377 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2419C>A (p.Pro807Thr) single nucleotide variant Cardiovascular phenotype [RCV002459625] Chr6:112144868 [GRCh38]
Chr6:112466070 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.64T>C (p.Ser22Pro) single nucleotide variant Cardiovascular phenotype [RCV002364140] Chr6:112254087 [GRCh38]
Chr6:112575289 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.359A>G (p.Asp120Gly) single nucleotide variant Cardiovascular phenotype [RCV002339856] Chr6:112207084 [GRCh38]
Chr6:112528285 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4768G>A (p.Gly1590Ser) single nucleotide variant Cardiovascular phenotype [RCV002330609] Chr6:112119209 [GRCh38]
Chr6:112440412 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.942C>A (p.Ile314=) single nucleotide variant Cardiovascular phenotype [RCV002371277] Chr6:112187474 [GRCh38]
Chr6:112508676 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.605G>A (p.Cys202Tyr) single nucleotide variant Cardiovascular phenotype [RCV002358306]|Dilated cardiomyopathy 1JJ [RCV003098118]|LAMA4-related condition [RCV003971256] Chr6:112191749 [GRCh38]
Chr6:112512951 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2513T>C (p.Phe838Ser) single nucleotide variant Cardiovascular phenotype [RCV002430959] Chr6:112142273 [GRCh38]
Chr6:112463475 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.510T>C (p.Ala170=) single nucleotide variant Cardiovascular phenotype [RCV002336035] Chr6:112191844 [GRCh38]
Chr6:112513046 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4840T>G (p.Phe1614Val) single nucleotide variant Cardiovascular phenotype [RCV002337999] Chr6:112117880 [GRCh38]
Chr6:112439083 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3117G>A (p.Lys1039=) single nucleotide variant Cardiovascular phenotype [RCV002325855]|Dilated cardiomyopathy 1JJ [RCV003775038] Chr6:112139285 [GRCh38]
Chr6:112460487 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1748G>A (p.Ser583Asn) single nucleotide variant Cardiovascular phenotype [RCV002399137] Chr6:112158801 [GRCh38]
Chr6:112480003 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1704C>T (p.Ala568=) single nucleotide variant Cardiovascular phenotype [RCV002406063] Chr6:112158845 [GRCh38]
Chr6:112480047 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3859G>T (p.Asp1287Tyr) single nucleotide variant Cardiovascular phenotype [RCV002364046] Chr6:112131077 [GRCh38]
Chr6:112452279 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3124T>A (p.Phe1042Ile) single nucleotide variant Cardiovascular phenotype [RCV002326008] Chr6:112139278 [GRCh38]
Chr6:112460480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.966+4C>G single nucleotide variant Cardiovascular phenotype [RCV002374028] Chr6:112187446 [GRCh38]
Chr6:112508648 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1330G>T (p.Asp444Tyr) single nucleotide variant Cardiovascular phenotype [RCV002381037] Chr6:112175340 [GRCh38]
Chr6:112496542 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5159T>A (p.Val1720Asp) single nucleotide variant Cardiovascular phenotype [RCV002338189] Chr6:112114710 [GRCh38]
Chr6:112435913 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1018A>G (p.Asn340Asp) single nucleotide variant Cardiovascular phenotype [RCV002383003]|Dilated cardiomyopathy 1JJ [RCV003741310] Chr6:112185296 [GRCh38]
Chr6:112506498 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2799T>C (p.Ile933=) single nucleotide variant Cardiovascular phenotype [RCV002439688] Chr6:112141372 [GRCh38]
Chr6:112462574 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2813+5A>G single nucleotide variant Cardiovascular phenotype [RCV002441434] Chr6:112141353 [GRCh38]
Chr6:112462555 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2668-5T>G single nucleotide variant Cardiovascular phenotype [RCV002428661]|Dilated cardiomyopathy 1JJ [RCV003741317] Chr6:112141508 [GRCh38]
Chr6:112462710 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3219T>C (p.Thr1073=) single nucleotide variant Cardiovascular phenotype [RCV002322923] Chr6:112139183 [GRCh38]
Chr6:112460385 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1200C>A (p.Asn400Lys) single nucleotide variant Cardiovascular phenotype [RCV002340174]|Dilated cardiomyopathy 1JJ [RCV003581834] Chr6:112175470 [GRCh38]
Chr6:112496672 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.919G>A (p.Ala307Thr) single nucleotide variant Cardiovascular phenotype [RCV002376282] Chr6:112187497 [GRCh38]
Chr6:112508699 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1065A>T (p.Glu355Asp) single nucleotide variant Cardiovascular phenotype [RCV002403225] Chr6:112185249 [GRCh38]
Chr6:112506451 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3113A>G (p.Asp1038Gly) single nucleotide variant Cardiovascular phenotype [RCV002325814] Chr6:112139289 [GRCh38]
Chr6:112460491 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3440A>C (p.Lys1147Thr) single nucleotide variant Cardiovascular phenotype [RCV002456911] Chr6:112134584 [GRCh38]
Chr6:112455786 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3927T>C (p.Asp1309=) single nucleotide variant Cardiovascular phenotype [RCV002373110]|Dilated cardiomyopathy 1JJ [RCV003102475] Chr6:112131009 [GRCh38]
Chr6:112452211 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.386G>T (p.Cys129Phe) single nucleotide variant Cardiovascular phenotype [RCV002355603] Chr6:112207057 [GRCh38]
Chr6:112528258 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3258C>A (p.Gly1086=) single nucleotide variant Cardiovascular phenotype [RCV002324764] Chr6:112139144 [GRCh38]
Chr6:112460346 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2564T>C (p.Leu855Ser) single nucleotide variant Cardiovascular phenotype [RCV002433244] Chr6:112142222 [GRCh38]
Chr6:112463424 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5219C>T (p.Ser1740Phe) single nucleotide variant Cardiovascular phenotype [RCV002338543] Chr6:112114183 [GRCh38]
Chr6:112435386 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1164C>A (p.Ala388=) single nucleotide variant Cardiovascular phenotype [RCV002457317]|Dilated cardiomyopathy 1JJ [RCV003099509] Chr6:112178146 [GRCh38]
Chr6:112499348 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3156C>T (p.Phe1052=) single nucleotide variant Cardiovascular phenotype [RCV002320634] Chr6:112139246 [GRCh38]
Chr6:112460448 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2270A>G (p.Asn757Ser) single nucleotide variant Cardiovascular phenotype [RCV002428428] Chr6:112148240 [GRCh38]
Chr6:112469442 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1567G>A (p.Val523Met) single nucleotide variant Cardiovascular phenotype [RCV002403265] Chr6:112165261 [GRCh38]
Chr6:112486463 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.504A>G (p.Arg168=) single nucleotide variant Cardiovascular phenotype [RCV002335704] Chr6:112191850 [GRCh38]
Chr6:112513052 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1919C>T (p.Thr640Ile) single nucleotide variant Cardiovascular phenotype [RCV002408158] Chr6:112155605 [GRCh38]
Chr6:112476807 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1523C>A (p.Ala508Asp) single nucleotide variant Cardiovascular phenotype [RCV002389952] Chr6:112172639 [GRCh38]
Chr6:112493841 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.320G>A (p.Gly107Glu) single nucleotide variant Cardiovascular phenotype [RCV002324577] Chr6:112207123 [GRCh38]
Chr6:112528324 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3121G>T (p.Ala1041Ser) single nucleotide variant Cardiovascular phenotype [RCV002325984] Chr6:112139281 [GRCh38]
Chr6:112460483 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3467G>A (p.Arg1156Lys) single nucleotide variant Cardiovascular phenotype [RCV002457163] Chr6:112134557 [GRCh38]
Chr6:112455759 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3654A>G (p.Thr1218=) single nucleotide variant Cardiovascular phenotype [RCV002460338] Chr6:112133391 [GRCh38]
Chr6:112454593 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2574C>T (p.Phe858=) single nucleotide variant Cardiovascular phenotype [RCV002433318] Chr6:112142212 [GRCh38]
Chr6:112463414 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2658A>G (p.Gly886=) single nucleotide variant Cardiovascular phenotype [RCV002428598]|Dilated cardiomyopathy 1JJ [RCV003741316] Chr6:112142128 [GRCh38]
Chr6:112463330 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2779T>C (p.Trp927Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002300479] Chr6:112141392 [GRCh38]
Chr6:112462594 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1642C>T (p.Leu548Phe) single nucleotide variant Cardiovascular phenotype [RCV002401072]|Dilated cardiomyopathy 1JJ [RCV003581858] Chr6:112165186 [GRCh38]
Chr6:112486388 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2987G>C (p.Ser996Thr) single nucleotide variant Cardiovascular phenotype [RCV002442034] Chr6:112139875 [GRCh38]
Chr6:112461077 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4914C>A (p.Thr1638=) single nucleotide variant Cardiovascular phenotype [RCV002340558] Chr6:112117806 [GRCh38]
Chr6:112439009 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2488A>G (p.Ser830Gly) single nucleotide variant Cardiovascular phenotype [RCV002455513] Chr6:112144799 [GRCh38]
Chr6:112466001 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.24C>G (p.Arg8=) single nucleotide variant Cardiovascular phenotype [RCV002455602] Chr6:112254127 [GRCh38]
Chr6:112575329 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3833G>A (p.Gly1278Glu) single nucleotide variant Cardiovascular phenotype [RCV002355255]|Dilated cardiomyopathy 1JJ [RCV003094376] Chr6:112132754 [GRCh38]
Chr6:112453956 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1598C>T (p.Ser533Phe) single nucleotide variant Cardiovascular phenotype [RCV002392637] Chr6:112165230 [GRCh38]
Chr6:112486432 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3221G>A (p.Arg1074His) single nucleotide variant Cardiovascular phenotype [RCV002443353]|Dilated cardiomyopathy 1JJ [RCV003741296] Chr6:112139181 [GRCh38]
Chr6:112460383 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3321A>G (p.Leu1107=) single nucleotide variant Cardiovascular phenotype [RCV002326220] Chr6:112136216 [GRCh38]
Chr6:112457418 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2381A>G (p.Gln794Arg) single nucleotide variant Cardiovascular phenotype [RCV002448535] Chr6:112144906 [GRCh38]
Chr6:112466108 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4582C>T (p.Arg1528Cys) single nucleotide variant Cardiovascular phenotype [RCV002340205]|Dilated cardiomyopathy 1JJ [RCV003094760]|not provided [RCV003156379] Chr6:112120366 [GRCh38]
Chr6:112441569 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4017C>G (p.Thr1339=) single nucleotide variant Cardiovascular phenotype [RCV002375601] Chr6:112129992 [GRCh38]
Chr6:112451194 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.398C>A (p.Pro133His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002296237] Chr6:112207045 [GRCh38]
Chr6:112528246 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.15A>G (p.Ser5=) single nucleotide variant Cardiovascular phenotype [RCV002398640] Chr6:112254136 [GRCh38]
Chr6:112575338 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1630C>T (p.Pro544Ser) single nucleotide variant Cardiovascular phenotype [RCV002394802] Chr6:112165198 [GRCh38]
Chr6:112486400 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.103G>C (p.Asp35His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002300529] Chr6:112254048 [GRCh38]
Chr6:112575250 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1651C>T (p.Leu551Phe) single nucleotide variant Cardiovascular phenotype [RCV002401278] Chr6:112165177 [GRCh38]
Chr6:112486379 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2995C>G (p.Leu999Val) single nucleotide variant Cardiovascular phenotype [RCV002442131] Chr6:112139867 [GRCh38]
Chr6:112461069 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1685A>T (p.Tyr562Phe) single nucleotide variant Cardiovascular phenotype [RCV002395107] Chr6:112158864 [GRCh38]
Chr6:112480066 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1284A>C (p.Glu428Asp) single nucleotide variant Cardiovascular phenotype [RCV002447611] Chr6:112175386 [GRCh38]
Chr6:112496588 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2772C>T (p.Val924=) single nucleotide variant Cardiovascular phenotype [RCV002439380]|Dilated cardiomyopathy 1JJ [RCV003102178] Chr6:112141399 [GRCh38]
Chr6:112462601 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3882T>G (p.Asp1294Glu) single nucleotide variant Cardiovascular phenotype [RCV002355554] Chr6:112131054 [GRCh38]
Chr6:112452256 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3255C>T (p.Asn1085=) single nucleotide variant Cardiovascular phenotype [RCV002445556]|Dilated cardiomyopathy 1JJ [RCV003099321] Chr6:112139147 [GRCh38]
Chr6:112460349 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1484C>A (p.Ala495Asp) single nucleotide variant Cardiovascular phenotype [RCV002396770] Chr6:112172678 [GRCh38]
Chr6:112493880 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2399G>A (p.Arg800His) single nucleotide variant Cardiovascular phenotype [RCV002450196]|Dilated cardiomyopathy 1JJ [RCV003098836] Chr6:112144888 [GRCh38]
Chr6:112466090 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5119G>A (p.Val1707Met) single nucleotide variant Cardiovascular phenotype [RCV002335965] Chr6:112114750 [GRCh38]
Chr6:112435953 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2780G>C (p.Trp927Ser) single nucleotide variant Cardiovascular phenotype [RCV002439452] Chr6:112141391 [GRCh38]
Chr6:112462593 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.718+5A>G single nucleotide variant Cardiovascular phenotype [RCV002370733] Chr6:112191631 [GRCh38]
Chr6:112512833 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2279C>T (p.Thr760Ile) single nucleotide variant Cardiovascular phenotype [RCV002443655] Chr6:112148231 [GRCh38]
Chr6:112469433 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1486C>G (p.Leu496Val) single nucleotide variant Cardiovascular phenotype [RCV002396810] Chr6:112172676 [GRCh38]
Chr6:112493878 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1701A>G (p.Gly567=) single nucleotide variant Cardiovascular phenotype [RCV002414534] Chr6:112158848 [GRCh38]
Chr6:112480050 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.422del (p.Asn141fs) deletion Cardiovascular phenotype [RCV002328095] Chr6:112207021 [GRCh38]
Chr6:112528222 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4466T>C (p.Phe1489Ser) single nucleotide variant Cardiovascular phenotype [RCV002328300]|not provided [RCV003225232] Chr6:112122023 [GRCh38]
Chr6:112443226 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2938A>G (p.Thr980Ala) single nucleotide variant Cardiovascular phenotype [RCV002439885] Chr6:112140798 [GRCh38]
Chr6:112462000 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4194del (p.Leu1399fs) deletion Cardiovascular phenotype [RCV002333414] Chr6:112129015 [GRCh38]
Chr6:112450217 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4198T>C (p.Tyr1400His) single nucleotide variant Cardiovascular phenotype [RCV002333439] Chr6:112129011 [GRCh38]
Chr6:112450213 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.103G>A (p.Asp35Asn) single nucleotide variant Cardiovascular phenotype [RCV002389628] Chr6:112254048 [GRCh38]
Chr6:112575250 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4984G>C (p.Glu1662Gln) single nucleotide variant Cardiovascular phenotype [RCV002342810] Chr6:112115991 [GRCh38]
Chr6:112437194 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1995T>G (p.His665Gln) single nucleotide variant Cardiovascular phenotype [RCV002423556] Chr6:112154912 [GRCh38]
Chr6:112476114 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1506C>T (p.Ala502=) single nucleotide variant Cardiovascular phenotype [RCV002389567]|Dilated cardiomyopathy 1JJ [RCV003095225] Chr6:112172656 [GRCh38]
Chr6:112493858 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1141G>A (p.Ala381Thr) single nucleotide variant Cardiovascular phenotype [RCV002439955]|Dilated cardiomyopathy 1JJ [RCV003741318] Chr6:112178169 [GRCh38]
Chr6:112499371 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1073A>G (p.Glu358Gly) single nucleotide variant Cardiovascular phenotype [RCV002403828] Chr6:112185241 [GRCh38]
Chr6:112506443 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4391G>C (p.Arg1464Thr) single nucleotide variant Cardiovascular phenotype [RCV002333510] Chr6:112122098 [GRCh38]
Chr6:112443301 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4513C>A (p.His1505Asn) single nucleotide variant Cardiovascular phenotype [RCV002328629] Chr6:112120435 [GRCh38]
Chr6:112441638 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2955T>C (p.Gly985=) single nucleotide variant Cardiovascular phenotype [RCV002440104] Chr6:112140781 [GRCh38]
Chr6:112461983 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3072C>A (p.Ile1024=) single nucleotide variant Cardiovascular phenotype [RCV002444117] Chr6:112139790 [GRCh38]
Chr6:112460992 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.81G>C (p.Gly27=) single nucleotide variant Cardiovascular phenotype [RCV002427918]|not provided [RCV003426405] Chr6:112254070 [GRCh38]
Chr6:112575272 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4404C>T (p.His1468=) single nucleotide variant Cardiovascular phenotype [RCV002333592]|Dilated cardiomyopathy 1JJ [RCV003094673] Chr6:112122085 [GRCh38]
Chr6:112443288 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1227T>C (p.His409=) single nucleotide variant Cardiovascular phenotype [RCV002347344]|Dilated cardiomyopathy 1JJ [RCV003096832] Chr6:112175443 [GRCh38]
Chr6:112496645 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.854G>A (p.Arg285Gln) single nucleotide variant Cardiovascular phenotype [RCV002434666] Chr6:112187562 [GRCh38]
Chr6:112508764 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1018A>C (p.Asn340His) single nucleotide variant Cardiovascular phenotype [RCV002383001] Chr6:112185296 [GRCh38]
Chr6:112506498 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4213G>C (p.Glu1405Gln) single nucleotide variant Cardiovascular phenotype [RCV002327791] Chr6:112128996 [GRCh38]
Chr6:112450198 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1393_1395del (p.Asn465del) deletion Cardiovascular phenotype [RCV002383720] Chr6:112172767..112172769 [GRCh38]
Chr6:112493969..112493971 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4622A>C (p.Lys1541Thr) single nucleotide variant Cardiovascular phenotype [RCV002342393] Chr6:112120326 [GRCh38]
Chr6:112441529 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4624A>T (p.Ile1542Phe) single nucleotide variant Cardiovascular phenotype [RCV002342402] Chr6:112120324 [GRCh38]
Chr6:112441527 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5158G>A (p.Val1720Ile) single nucleotide variant Cardiovascular phenotype [RCV002344240] Chr6:112114711 [GRCh38]
Chr6:112435914 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.858A>G (p.Leu286=) single nucleotide variant Cardiovascular phenotype [RCV002434795] Chr6:112187558 [GRCh38]
Chr6:112508760 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1640del (p.Thr547fs) deletion Cardiovascular phenotype [RCV002401023] Chr6:112165188 [GRCh38]
Chr6:112486390 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2368G>A (p.Glu790Lys) single nucleotide variant Cardiovascular phenotype [RCV002428536]|Dilated cardiomyopathy 1JJ [RCV003581870] Chr6:112144919 [GRCh38]
Chr6:112466121 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.27G>A (p.Ser9=) single nucleotide variant Cardiovascular phenotype [RCV002441555]|Dilated cardiomyopathy 1JJ [RCV003102235] Chr6:112254124 [GRCh38]
Chr6:112575326 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1778A>T (p.His593Leu) single nucleotide variant Cardiovascular phenotype [RCV002401615] Chr6:112158771 [GRCh38]
Chr6:112479973 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1910C>T (p.Ala637Val) single nucleotide variant Cardiovascular phenotype [RCV002407979] Chr6:112155614 [GRCh38]
Chr6:112476816 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4865A>G (p.Gln1622Arg) single nucleotide variant Cardiovascular phenotype [RCV002340247] Chr6:112117855 [GRCh38]
Chr6:112439058 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3840C>T (p.Asp1280=) single nucleotide variant Cardiovascular phenotype [RCV002355290] Chr6:112131096 [GRCh38]
Chr6:112452298 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3824A>G (p.Tyr1275Cys) single nucleotide variant Cardiovascular phenotype [RCV002355195]|Dilated cardiomyopathy 1JJ [RCV003581828] Chr6:112132763 [GRCh38]
Chr6:112453965 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3834+3_3834+6del deletion Cardiovascular phenotype [RCV002355261] Chr6:112132747..112132750 [GRCh38]
Chr6:112453949..112453952 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2805G>A (p.Lys935=) single nucleotide variant Cardiovascular phenotype [RCV002441346] Chr6:112141366 [GRCh38]
Chr6:112462568 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3110+3A>G single nucleotide variant Cardiovascular phenotype [RCV002325757] Chr6:112139749 [GRCh38]
Chr6:112460951 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4648del (p.Asp1550fs) deletion Cardiovascular phenotype [RCV002342537] Chr6:112120300 [GRCh38]
Chr6:112441503 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4648G>A (p.Asp1550Asn) single nucleotide variant Cardiovascular phenotype [RCV002342538] Chr6:112120300 [GRCh38]
Chr6:112441503 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1302A>G (p.Gln434=) single nucleotide variant Cardiovascular phenotype [RCV002376696]|Dilated cardiomyopathy 1JJ [RCV003103609] Chr6:112175368 [GRCh38]
Chr6:112496570 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.577T>G (p.Ser193Ala) single nucleotide variant Cardiovascular phenotype [RCV002359716] Chr6:112191777 [GRCh38]
Chr6:112512979 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3317A>G (p.Tyr1106Cys) single nucleotide variant Cardiovascular phenotype [RCV002326181]|Dilated cardiomyopathy 1JJ [RCV003581824] Chr6:112136220 [GRCh38]
Chr6:112457422 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5311G>T (p.Val1771Phe) single nucleotide variant Cardiovascular phenotype [RCV002344525] Chr6:112114091 [GRCh38]
Chr6:112435294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5317G>A (p.Gly1773Ser) single nucleotide variant Cardiovascular phenotype [RCV002344547] Chr6:112114085 [GRCh38]
Chr6:112435288 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3283-5C>T single nucleotide variant Cardiovascular phenotype [RCV002445657] Chr6:112136259 [GRCh38]
Chr6:112457461 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3342A>G (p.Gly1114=) single nucleotide variant Cardiovascular phenotype [RCV002326382]|Dilated cardiomyopathy 1JJ [RCV003099397] Chr6:112136195 [GRCh38]
Chr6:112457397 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4957A>C (p.Thr1653Pro) single nucleotide variant Cardiovascular phenotype [RCV002342656] Chr6:112117763 [GRCh38]
Chr6:112438966 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.530C>T (p.Pro177Leu) single nucleotide variant Cardiovascular phenotype [RCV002344639] Chr6:112191824 [GRCh38]
Chr6:112513026 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2994C>G (p.Asn998Lys) single nucleotide variant Cardiovascular phenotype [RCV002442121] Chr6:112139868 [GRCh38]
Chr6:112461070 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4814dup (p.Asn1605fs) duplication Cardiovascular phenotype [RCV002337826] Chr6:112119162..112119163 [GRCh38]
Chr6:112440365..112440366 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4291G>A (p.Gly1431Arg) single nucleotide variant Cardiovascular phenotype [RCV002330036] Chr6:112122198 [GRCh38]
Chr6:112443401 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4794T>A (p.Ala1598=) single nucleotide variant Cardiovascular phenotype [RCV002337744] Chr6:112119183 [GRCh38]
Chr6:112440386 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3263T>G (p.Ile1088Ser) single nucleotide variant Cardiovascular phenotype [RCV002445605] Chr6:112139139 [GRCh38]
Chr6:112460341 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1580T>C (p.Met527Thr) single nucleotide variant Cardiovascular phenotype [RCV002405368] Chr6:112165248 [GRCh38]
Chr6:112486450 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5375G>A (p.Cys1792Tyr) single nucleotide variant Cardiovascular phenotype [RCV002346983] Chr6:112109534 [GRCh38]
Chr6:112430737 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1218G>C (p.Gly406=) single nucleotide variant Cardiovascular phenotype [RCV002340958] Chr6:112175452 [GRCh38]
Chr6:112496654 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2996T>C (p.Leu999Pro) single nucleotide variant Cardiovascular phenotype [RCV002442140] Chr6:112139866 [GRCh38]
Chr6:112461068 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1197C>A (p.Asn399Lys) single nucleotide variant Cardiovascular phenotype [RCV002328353] Chr6:112175473 [GRCh38]
Chr6:112496675 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1949G>A (p.Arg650Gln) single nucleotide variant Cardiovascular phenotype [RCV002410838]|Dilated cardiomyopathy 1JJ [RCV003581863] Chr6:112155575 [GRCh38]
Chr6:112476777 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1209C>G (p.Leu403=) single nucleotide variant Cardiovascular phenotype [RCV002332405] Chr6:112175461 [GRCh38]
Chr6:112496663 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5396A>T (p.Asp1799Val) single nucleotide variant Cardiovascular phenotype [RCV002347079] Chr6:112109513 [GRCh38]
Chr6:112430716 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4689C>T (p.Ser1563=) single nucleotide variant Cardiovascular phenotype [RCV002335133] Chr6:112119288 [GRCh38]
Chr6:112440491 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5007G>C (p.Lys1669Asn) single nucleotide variant Cardiovascular phenotype [RCV002342913] Chr6:112115968 [GRCh38]
Chr6:112437171 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.67C>T (p.Arg23Cys) single nucleotide variant Cardiovascular phenotype [RCV002369473]|Dilated cardiomyopathy 1JJ [RCV003776312] Chr6:112254084 [GRCh38]
Chr6:112575286 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1540C>T (p.Arg514Trp) single nucleotide variant Cardiovascular phenotype [RCV002392374]|Dilated cardiomyopathy 1JJ [RCV003095279]|not provided [RCV003225235] Chr6:112172622 [GRCh38]
Chr6:112493824 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3059A>G (p.Asn1020Ser) single nucleotide variant Cardiovascular phenotype [RCV002438166] Chr6:112139803 [GRCh38]
Chr6:112461005 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1453T>C (p.Leu485=) single nucleotide variant Cardiovascular phenotype [RCV002392103] Chr6:112172709 [GRCh38]
Chr6:112493911 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4665+2T>A single nucleotide variant Cardiovascular phenotype [RCV002335038] Chr6:112120281 [GRCh38]
Chr6:112441484 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1873A>G (p.Asn625Asp) single nucleotide variant Cardiovascular phenotype [RCV002413034]|Dilated cardiomyopathy 1JJ [RCV003741313] Chr6:112155651 [GRCh38]
Chr6:112476853 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1571G>A (p.Arg524Lys) single nucleotide variant Cardiovascular phenotype [RCV002392583] Chr6:112165257 [GRCh38]
Chr6:112486459 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4896T>C (p.Ser1632=) single nucleotide variant Cardiovascular phenotype [RCV002330815] Chr6:112117824 [GRCh38]
Chr6:112439027 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1065A>C (p.Glu355Asp) single nucleotide variant Cardiovascular phenotype [RCV002403209] Chr6:112185249 [GRCh38]
Chr6:112506451 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4733G>C (p.Ser1578Thr) single nucleotide variant Cardiovascular phenotype [RCV002335348]|Dilated cardiomyopathy 1JJ [RCV003096436] Chr6:112119244 [GRCh38]
Chr6:112440447 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4706T>C (p.Ile1569Thr) single nucleotide variant Cardiovascular phenotype [RCV002335220] Chr6:112119271 [GRCh38]
Chr6:112440474 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.383T>G (p.Phe128Cys) single nucleotide variant Cardiovascular phenotype [RCV002364069] Chr6:112207060 [GRCh38]
Chr6:112528261 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4842T>C (p.Phe1614=) single nucleotide variant Cardiovascular phenotype [RCV002330762] Chr6:112117878 [GRCh38]
Chr6:112439081 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1967G>A (p.Ser656Asn) single nucleotide variant Cardiovascular phenotype [RCV002413261] Chr6:112154940 [GRCh38]
Chr6:112476142 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2548A>C (p.Thr850Pro) single nucleotide variant Cardiovascular phenotype [RCV002455698] Chr6:112142238 [GRCh38]
Chr6:112463440 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4751C>T (p.Ala1584Val) single nucleotide variant Cardiovascular phenotype [RCV002335469] Chr6:112119226 [GRCh38]
Chr6:112440429 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3244C>G (p.Pro1082Ala) single nucleotide variant Cardiovascular phenotype [RCV002324690] Chr6:112139158 [GRCh38]
Chr6:112460360 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5158_5159delinsAA (p.Val1720Asn) indel Cardiovascular phenotype [RCV002338186] Chr6:112114710..112114711 [GRCh38]
Chr6:112435913..112435914 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.900C>A (p.Ser300Arg) single nucleotide variant Cardiovascular phenotype [RCV002449776] Chr6:112187516 [GRCh38]
Chr6:112508718 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5166C>A (p.Pro1722=) single nucleotide variant Cardiovascular phenotype [RCV002338217] Chr6:112114703 [GRCh38]
Chr6:112435906 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.770AAG[1] (p.Glu258del) microsatellite Cardiovascular phenotype [RCV002400734] Chr6:112189149..112189151 [GRCh38]
Chr6:112510351..112510353 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4867C>T (p.Leu1623Phe) single nucleotide variant Cardiovascular phenotype [RCV002330793] Chr6:112117853 [GRCh38]
Chr6:112439056 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3646G>A (p.Glu1216Lys) single nucleotide variant Cardiovascular phenotype [RCV002460320] Chr6:112133399 [GRCh38]
Chr6:112454601 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2281A>G (p.Asn761Asp) single nucleotide variant Cardiovascular phenotype [RCV002443731] Chr6:112148229 [GRCh38]
Chr6:112469431 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5215G>A (p.Asp1739Asn) single nucleotide variant Cardiovascular phenotype [RCV002338526] Chr6:112114187 [GRCh38]
Chr6:112435390 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4169G>T (p.Arg1390Leu) single nucleotide variant Cardiovascular phenotype [RCV002333195] Chr6:112129040 [GRCh38]
Chr6:112450242 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.414C>T (p.His138=) single nucleotide variant Cardiovascular phenotype [RCV002333213] Chr6:112207029 [GRCh38]
Chr6:112528230 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4183G>T (p.Val1395Phe) single nucleotide variant Cardiovascular phenotype [RCV002333332] Chr6:112129026 [GRCh38]
Chr6:112450228 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3697-75_3703dup duplication Cardiovascular phenotype [RCV002346678] Chr6:112132883..112132884 [GRCh38]
Chr6:112454085..112454086 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2286G>T (p.Trp762Cys) single nucleotide variant Cardiovascular phenotype [RCV002443808] Chr6:112148224 [GRCh38]
Chr6:112469426 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4652G>A (p.Gly1551Asp) single nucleotide variant Cardiovascular phenotype [RCV002342569] Chr6:112120296 [GRCh38]
Chr6:112441499 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.152G>C (p.Ser51Thr) single nucleotide variant Cardiovascular phenotype [RCV003308182]|Dilated cardiomyopathy 1JJ [RCV002613603] Chr6:112253999 [GRCh38]
Chr6:112575201 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1126G>A (p.Asp376Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002837790] Chr6:112178184 [GRCh38]
Chr6:112499386 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3768C>G (p.Gly1256=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003014579] Chr6:112132819 [GRCh38]
Chr6:112454021 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2237T>C (p.Met746Thr) single nucleotide variant Inborn genetic diseases [RCV002905987] Chr6:112148273 [GRCh38]
Chr6:112469475 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2494-16C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002996246] Chr6:112142308 [GRCh38]
Chr6:112463510 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1190-16del deletion Dilated cardiomyopathy 1JJ [RCV003077085] Chr6:112175496 [GRCh38]
Chr6:112496698 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4700T>A (p.Leu1567Gln) single nucleotide variant Inborn genetic diseases [RCV002906517] Chr6:112119277 [GRCh38]
Chr6:112440480 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4994A>G (p.Asn1665Ser) single nucleotide variant Inborn genetic diseases [RCV002864074] Chr6:112115981 [GRCh38]
Chr6:112437184 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4418G>C (p.Gly1473Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002971512] Chr6:112122071 [GRCh38]
Chr6:112443274 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1354G>T (p.Glu452Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002907737] Chr6:112175316 [GRCh38]
Chr6:112496518 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5155T>C (p.Ser1719Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002997068] Chr6:112114714 [GRCh38]
Chr6:112435917 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5038A>G (p.Ser1680Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002730220] Chr6:112115937 [GRCh38]
Chr6:112437140 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1621_1622del (p.Leu541fs) microsatellite not provided [RCV002511337] Chr6:112165206..112165207 [GRCh38]
Chr6:112486408..112486409 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3287T>C (p.Met1096Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002751625] Chr6:112136250 [GRCh38]
Chr6:112457452 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.39G>T (p.Leu13=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002880608] Chr6:112254112 [GRCh38]
Chr6:112575314 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3414+12T>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003074382] Chr6:112136111 [GRCh38]
Chr6:112457313 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4504C>T (p.Arg1502Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002882159] Chr6:112120444 [GRCh38]
Chr6:112441647 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2770G>A (p.Val924Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002908643] Chr6:112141401 [GRCh38]
Chr6:112462603 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2740G>C (p.Asp914His) single nucleotide variant Cardiovascular phenotype [RCV003167863]|Dilated cardiomyopathy 1JJ [RCV002882176] Chr6:112141431 [GRCh38]
Chr6:112462633 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.196-7G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002618397] Chr6:112216476 [GRCh38]
Chr6:112537677 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2016C>T (p.Leu672=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002622972] Chr6:112154891 [GRCh38]
Chr6:112476093 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.196-20G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002640597] Chr6:112216489 [GRCh38]
Chr6:112537690 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4920C>A (p.Cys1640Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002593166] Chr6:112117800 [GRCh38]
Chr6:112439003 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.966+16C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003078257] Chr6:112187434 [GRCh38]
Chr6:112508636 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4666G>A (p.Val1556Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002800146] Chr6:112119311 [GRCh38]
Chr6:112440514 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5C>T (p.Ala2Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002953231] Chr6:112254146 [GRCh38]
Chr6:112575348 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3359T>C (p.Val1120Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002638902] Chr6:112136178 [GRCh38]
Chr6:112457380 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1468G>A (p.Glu490Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002800548] Chr6:112172694 [GRCh38]
Chr6:112493896 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1242G>T (p.Lys414Asn) single nucleotide variant Inborn genetic diseases [RCV002758786] Chr6:112175428 [GRCh38]
Chr6:112496630 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1669-16A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003055356] Chr6:112158896 [GRCh38]
Chr6:112480098 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.966+4C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003100555] Chr6:112187446 [GRCh38]
Chr6:112508648 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3886A>T (p.Lys1296Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002999597] Chr6:112131050 [GRCh38]
Chr6:112452252 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4008G>A (p.Lys1336=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003039323] Chr6:112130001 [GRCh38]
Chr6:112451203 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3763G>A (p.Asp1255Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003055355] Chr6:112132824 [GRCh38]
Chr6:112454026 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.266A>G (p.Asn89Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002619150] Chr6:112216399 [GRCh38]
Chr6:112537600 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5066A>T (p.His1689Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002619578]|not specified [RCV003988059] Chr6:112115909 [GRCh38]
Chr6:112437112 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2614C>A (p.Pro872Thr) single nucleotide variant Inborn genetic diseases [RCV002924998] Chr6:112142172 [GRCh38]
Chr6:112463374 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1177G>A (p.Asp393Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003019105] Chr6:112178133 [GRCh38]
Chr6:112499335 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4957A>G (p.Thr1653Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002909957] Chr6:112117763 [GRCh38]
Chr6:112438966 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.123G>C (p.Ala41=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003078660] Chr6:112254028 [GRCh38]
Chr6:112575230 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1358-7T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003078378] Chr6:112172811 [GRCh38]
Chr6:112494013 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2015T>C (p.Leu672Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002638018] Chr6:112154892 [GRCh38]
Chr6:112476094 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1186C>G (p.Gln396Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002622740] Chr6:112178124 [GRCh38]
Chr6:112499326 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3697-19C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002740003] Chr6:112132909 [GRCh38]
Chr6:112454111 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.459T>C (p.Val153=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003077391] Chr6:112201652 [GRCh38]
Chr6:112522853 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5139C>T (p.Ile1713=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002620458] Chr6:112114730 [GRCh38]
Chr6:112435933 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4476-20C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002999729] Chr6:112120492 [GRCh38]
Chr6:112441695 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5259T>C (p.His1753=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002736681] Chr6:112114143 [GRCh38]
Chr6:112435346 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2583G>T (p.Leu861=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002846685] Chr6:112142203 [GRCh38]
Chr6:112463405 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3569C>A (p.Ala1190Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002620867] Chr6:112133476 [GRCh38]
Chr6:112454678 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1375_1376del (p.Ser459fs) microsatellite Dilated cardiomyopathy 1JJ [RCV002690821] Chr6:112172786..112172787 [GRCh38]
Chr6:112493988..112493989 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.503+20T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002909435] Chr6:112201588 [GRCh38]
Chr6:112522789 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1561G>A (p.Glu521Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002662423] Chr6:112165267 [GRCh38]
Chr6:112486469 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4216T>A (p.Ser1406Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002795491] Chr6:112128993 [GRCh38]
Chr6:112450195 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3415-5C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002780622] Chr6:112134614 [GRCh38]
Chr6:112455816 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5327-8_5347del deletion Dilated cardiomyopathy 1JJ [RCV003019222] Chr6:112109562..112109590 [GRCh38]
Chr6:112430765..112430793 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2924T>C (p.Leu975Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003052822] Chr6:112140812 [GRCh38]
Chr6:112462014 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.489A>G (p.Gly163=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002913391] Chr6:112201622 [GRCh38]
Chr6:112522823 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1419C>G (p.Val473=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002948994] Chr6:112172743 [GRCh38]
Chr6:112493945 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3139G>T (p.Ala1047Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002909905] Chr6:112139263 [GRCh38]
Chr6:112460465 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1362G>A (p.Leu454=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002710308] Chr6:112172800 [GRCh38]
Chr6:112494002 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4109G>T (p.Cys1370Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002954219] Chr6:112129900 [GRCh38]
Chr6:112451102 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4964G>A (p.Gly1655Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003083224] Chr6:112117756 [GRCh38]
Chr6:112438959 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3374C>T (p.Thr1125Met) single nucleotide variant Cardiovascular phenotype [RCV003170687]|Dilated cardiomyopathy 1JJ [RCV002928750] Chr6:112136163 [GRCh38]
Chr6:112457365 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.703G>A (p.Ala235Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002725764]|Inborn genetic diseases [RCV002701076] Chr6:112191651 [GRCh38]
Chr6:112512853 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1368G>A (p.Gln456=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002596089] Chr6:112172794 [GRCh38]
Chr6:112493996 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2358A>C (p.Arg786Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003024161] Chr6:112144929 [GRCh38]
Chr6:112466131 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.196-15G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002624231] Chr6:112216484 [GRCh38]
Chr6:112537685 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1384C>T (p.Arg462Trp) single nucleotide variant not provided [RCV002508550] Chr6:112172778 [GRCh38]
Chr6:112493980 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3178G>T (p.Val1060Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002625267] Chr6:112139224 [GRCh38]
Chr6:112460426 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1544A>G (p.Asp515Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002914987] Chr6:112172618 [GRCh38]
Chr6:112493820 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4254T>A (p.Asn1418Lys) single nucleotide variant Cardiovascular phenotype [RCV003170764]|Dilated cardiomyopathy 1JJ [RCV002982157] Chr6:112128955 [GRCh38]
Chr6:112450157 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1986C>G (p.Ile662Met) single nucleotide variant Inborn genetic diseases [RCV002929230] Chr6:112154921 [GRCh38]
Chr6:112476123 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5075A>G (p.Asn1692Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002917535] Chr6:112115900 [GRCh38]
Chr6:112437103 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5206+16G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003040339] Chr6:112114647 [GRCh38]
Chr6:112435850 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3180G>T (p.Val1060=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003081811] Chr6:112139222 [GRCh38]
Chr6:112460424 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2274T>G (p.Asn758Lys) single nucleotide variant Inborn genetic diseases [RCV002892042] Chr6:112148236 [GRCh38]
Chr6:112469438 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3415-14A>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002712109] Chr6:112134623 [GRCh38]
Chr6:112455825 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4134-13G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002623560] Chr6:112129088 [GRCh38]
Chr6:112450290 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1057G>T (p.Val353Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002594720] Chr6:112185257 [GRCh38]
Chr6:112506459 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3557+7C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002957767] Chr6:112134460 [GRCh38]
Chr6:112455662 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3686A>C (p.Glu1229Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002626717] Chr6:112133359 [GRCh38]
Chr6:112454561 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1746C>T (p.Leu582=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002893938] Chr6:112158803 [GRCh38]
Chr6:112480005 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.122C>A (p.Ala41Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002851110] Chr6:112254029 [GRCh38]
Chr6:112575231 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.742T>C (p.Cys248Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002624840] Chr6:112189182 [GRCh38]
Chr6:112510384 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4253A>G (p.Asn1418Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003024989] Chr6:112128956 [GRCh38]
Chr6:112450158 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3711A>G (p.Ala1237=) single nucleotide variant Cardiovascular phenotype [RCV003170637]|Dilated cardiomyopathy 1JJ [RCV002957617] Chr6:112132876 [GRCh38]
Chr6:112454078 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2355A>G (p.Val785=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002632602] Chr6:112144932 [GRCh38]
Chr6:112466134 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2206C>T (p.Leu736=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003029699] Chr6:112148304 [GRCh38]
Chr6:112469506 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5061C>T (p.His1687=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002967238] Chr6:112115914 [GRCh38]
Chr6:112437117 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4769G>A (p.Gly1590Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002651692] Chr6:112119208 [GRCh38]
Chr6:112440411 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1077G>A (p.Lys359=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002601773] Chr6:112185237 [GRCh38]
Chr6:112506439 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5115C>T (p.Val1705=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002791980] Chr6:112114754 [GRCh38]
Chr6:112435957 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.503+7C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002938605] Chr6:112201601 [GRCh38]
Chr6:112522802 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3056A>G (p.Tyr1019Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002602858] Chr6:112139806 [GRCh38]
Chr6:112461008 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2976+5G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003044813] Chr6:112140755 [GRCh38]
Chr6:112461957 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3174C>T (p.Ala1058=) single nucleotide variant Cardiovascular phenotype [RCV003377900]|Dilated cardiomyopathy 1JJ [RCV002628086] Chr6:112139228 [GRCh38]
Chr6:112460430 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4476-20C>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002598650] Chr6:112120492 [GRCh38]
Chr6:112441695 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3870T>C (p.Thr1290=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002715129] Chr6:112131066 [GRCh38]
Chr6:112452268 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3767G>A (p.Gly1256Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003010112] Chr6:112132820 [GRCh38]
Chr6:112454022 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.297+9G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002599902] Chr6:112216359 [GRCh38]
Chr6:112537560 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3835-16T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002672168] Chr6:112131117 [GRCh38]
Chr6:112452319 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1960-8C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002579828] Chr6:112154955 [GRCh38]
Chr6:112476157 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1263G>T (p.Val421=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003062989] Chr6:112175407 [GRCh38]
Chr6:112496609 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.982A>G (p.Arg328Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003062767] Chr6:112185332 [GRCh38]
Chr6:112506534 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.368G>A (p.Arg123Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002963260] Chr6:112207075 [GRCh38]
Chr6:112528276 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.997G>T (p.Ala333Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003086896] Chr6:112185317 [GRCh38]
Chr6:112506519 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3759C>A (p.Phe1253Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002988571] Chr6:112132828 [GRCh38]
Chr6:112454030 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.737G>A (p.Gly246Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002581088] Chr6:112189187 [GRCh38]
Chr6:112510389 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.300C>T (p.His100=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003090670] Chr6:112207143 [GRCh38]
Chr6:112528344 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3050G>A (p.Ser1017Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002961920] Chr6:112139812 [GRCh38]
Chr6:112461014 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.815-7C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003090124] Chr6:112187608 [GRCh38]
Chr6:112508810 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5327-9T>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002578363] Chr6:112109591 [GRCh38]
Chr6:112430794 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3352G>A (p.Gly1118Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003027373] Chr6:112136185 [GRCh38]
Chr6:112457387 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.597T>G (p.Phe199Leu) single nucleotide variant Inborn genetic diseases [RCV002898399] Chr6:112191757 [GRCh38]
Chr6:112512959 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2977-12del deletion Dilated cardiomyopathy 1JJ [RCV003088005] Chr6:112139897 [GRCh38]
Chr6:112461099 [GRCh37]
Chr6:6q21		 benign
NM_001105206.3(LAMA4):c.3968+8T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002933643] Chr6:112130960 [GRCh38]
Chr6:112452162 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.195+4C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002988722] Chr6:112253952 [GRCh38]
Chr6:112575154 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.350A>G (p.Tyr117Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003027849] Chr6:112207093 [GRCh38]
Chr6:112528294 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2813+16G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003086279] Chr6:112141342 [GRCh38]
Chr6:112462544 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.646A>G (p.Thr216Ala) single nucleotide variant Inborn genetic diseases [RCV002921146] Chr6:112191708 [GRCh38]
Chr6:112512910 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1358-6T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002716637] Chr6:112172810 [GRCh38]
Chr6:112494012 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2814-5A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002676241] Chr6:112140927 [GRCh38]
Chr6:112462129 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4222C>T (p.Pro1408Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002647911] Chr6:112128987 [GRCh38]
Chr6:112450189 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2999C>T (p.Pro1000Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002966484] Chr6:112139863 [GRCh38]
Chr6:112461065 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.758G>C (p.Gly253Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002988642] Chr6:112189166 [GRCh38]
Chr6:112510368 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3282+7A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002962172] Chr6:112139113 [GRCh38]
Chr6:112460315 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2600C>G (p.Pro867Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003067660] Chr6:112142186 [GRCh38]
Chr6:112463388 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1078-13G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002654787] Chr6:112178245 [GRCh38]
Chr6:112499447 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2173+18T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003093699] Chr6:112150493 [GRCh38]
Chr6:112471695 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.57T>C (p.Ala19=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002676882] Chr6:112254094 [GRCh38]
Chr6:112575296 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3110+12T>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003049581] Chr6:112139740 [GRCh38]
Chr6:112460942 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3272T>C (p.Met1091Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002654557] Chr6:112139130 [GRCh38]
Chr6:112460332 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2571C>T (p.Ala857=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002658433] Chr6:112142215 [GRCh38]
Chr6:112463417 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.78C>T (p.Ser26=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002605773] Chr6:112254073 [GRCh38]
Chr6:112575275 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4911G>A (p.Val1637=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003070488] Chr6:112117809 [GRCh38]
Chr6:112439012 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4988C>T (p.Ser1663Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002589477] Chr6:112115987 [GRCh38]
Chr6:112437190 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2900C>T (p.Ser967Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002943170] Chr6:112140836 [GRCh38]
Chr6:112462038 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2493+4A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003051887] Chr6:112144790 [GRCh38]
Chr6:112465992 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5117T>C (p.Ile1706Thr) single nucleotide variant Cardiovascular phenotype [RCV003170652]|Dilated cardiomyopathy 1JJ [RCV002942842] Chr6:112114752 [GRCh38]
Chr6:112435955 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1777C>T (p.His593Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002588531]|not provided [RCV003232814] Chr6:112158772 [GRCh38]
Chr6:112479974 [GRCh37]
Chr6:6q21		 likely benign|uncertain significance
NM_001105206.3(LAMA4):c.1551+7C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002633690] Chr6:112172604 [GRCh38]
Chr6:112493806 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.930C>T (p.His310=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003092980] Chr6:112187486 [GRCh38]
Chr6:112508688 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1817+8C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002611784] Chr6:112158724 [GRCh38]
Chr6:112479926 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.922C>T (p.His308Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002587424] Chr6:112187494 [GRCh38]
Chr6:112508696 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2976+4A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003072412] Chr6:112140756 [GRCh38]
Chr6:112461958 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2234C>T (p.Thr745Met) single nucleotide variant Inborn genetic diseases [RCV002944336] Chr6:112148276 [GRCh38]
Chr6:112469478 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.756C>T (p.Thr252=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV002612211] Chr6:112189168 [GRCh38]
Chr6:112510370 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4718G>A (p.Arg1573Gln) single nucleotide variant Cardiovascular phenotype [RCV003161889]|Dilated cardiomyopathy 1JJ [RCV002610449] Chr6:112119259 [GRCh38]
Chr6:112440462 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1043G>T (p.Ser348Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003131452] Chr6:112185271 [GRCh38]
Chr6:112506473 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1659T>C (p.Asp553=) single nucleotide variant Cardiovascular phenotype [RCV003296618] Chr6:112165169 [GRCh38]
Chr6:112486371 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2475C>T (p.Thr825=) single nucleotide variant Cardiovascular phenotype [RCV003296619]|Dilated cardiomyopathy 1JJ [RCV003581913] Chr6:112144812 [GRCh38]
Chr6:112466014 [GRCh37]
Chr6:6q21		 benign|likely benign
NM_001105206.3(LAMA4):c.112G>A (p.Gly38Arg) single nucleotide variant Cardiovascular phenotype [RCV003296622] Chr6:112254039 [GRCh38]
Chr6:112575241 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.931G>A (p.Val311Met) single nucleotide variant Cardiovascular phenotype [RCV003296627] Chr6:112187485 [GRCh38]
Chr6:112508687 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.410C>T (p.Pro137Leu) single nucleotide variant Cardiovascular phenotype [RCV003296628] Chr6:112207033 [GRCh38]
Chr6:112528234 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2814G>T (p.Arg938Ser) single nucleotide variant Cardiovascular phenotype [RCV003296629] Chr6:112140922 [GRCh38]
Chr6:112462124 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2958A>G (p.Gly986=) single nucleotide variant Cardiovascular phenotype [RCV003296630] Chr6:112140778 [GRCh38]
Chr6:112461980 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4324G>A (p.Val1442Ile) single nucleotide variant Cardiovascular phenotype [RCV003296632] Chr6:112122165 [GRCh38]
Chr6:112443368 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2103C>A (p.Ala701=) single nucleotide variant Cardiovascular phenotype [RCV003296633] Chr6:112150581 [GRCh38]
Chr6:112471783 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3231A>G (p.Ile1077Met) single nucleotide variant Cardiovascular phenotype [RCV003296634] Chr6:112139171 [GRCh38]
Chr6:112460373 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4630A>T (p.Ser1544Cys) single nucleotide variant Cardiovascular phenotype [RCV003296635] Chr6:112120318 [GRCh38]
Chr6:112441521 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1669-5T>C single nucleotide variant Cardiovascular phenotype [RCV003165300] Chr6:112158885 [GRCh38]
Chr6:112480087 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1271A>T (p.Gln424Leu) single nucleotide variant Cardiovascular phenotype [RCV003176505] Chr6:112175399 [GRCh38]
Chr6:112496601 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2428A>G (p.Asn810Asp) single nucleotide variant Cardiovascular phenotype [RCV003176507] Chr6:112144859 [GRCh38]
Chr6:112466061 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3859G>A (p.Asp1287Asn) single nucleotide variant Cardiovascular phenotype [RCV003176508] Chr6:112131077 [GRCh38]
Chr6:112452279 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4781T>C (p.Leu1594Ser) single nucleotide variant Cardiovascular phenotype [RCV003176509] Chr6:112119196 [GRCh38]
Chr6:112440399 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2869G>A (p.Glu957Lys) single nucleotide variant Cardiovascular phenotype [RCV003176510] Chr6:112140867 [GRCh38]
Chr6:112462069 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4514A>G (p.His1505Arg) single nucleotide variant Cardiovascular phenotype [RCV003176511]|Dilated cardiomyopathy 1JJ [RCV003741329] Chr6:112120434 [GRCh38]
Chr6:112441637 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3586A>G (p.Ile1196Val) single nucleotide variant Cardiovascular phenotype [RCV003216333] Chr6:112133459 [GRCh38]
Chr6:112454661 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2317G>A (p.Ala773Thr) single nucleotide variant Cardiovascular phenotype [RCV003216334] Chr6:112148193 [GRCh38]
Chr6:112469395 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3717C>T (p.Phe1239=) single nucleotide variant Cardiovascular phenotype [RCV003165297]|Dilated cardiomyopathy 1JJ [RCV003581896] Chr6:112132870 [GRCh38]
Chr6:112454072 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5461C>T (p.Pro1821Ser) single nucleotide variant Cardiovascular phenotype [RCV003165302] Chr6:112109448 [GRCh38]
Chr6:112430651 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2421T>A (p.Pro807=) single nucleotide variant Cardiovascular phenotype [RCV003165304]|Dilated cardiomyopathy 1JJ [RCV003741331] Chr6:112144866 [GRCh38]
Chr6:112466068 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3033G>A (p.Leu1011=) single nucleotide variant Cardiovascular phenotype [RCV003171626]|Dilated cardiomyopathy 1JJ [RCV003581899] Chr6:112139829 [GRCh38]
Chr6:112461031 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3705C>G (p.Arg1235=) single nucleotide variant Cardiovascular phenotype [RCV003165299] Chr6:112132882 [GRCh38]
Chr6:112454084 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.228G>C (p.Ser76=) single nucleotide variant Cardiovascular phenotype [RCV003165303]|Dilated cardiomyopathy 1JJ [RCV003741330] Chr6:112216437 [GRCh38]
Chr6:112537638 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4880C>T (p.Ser1627Phe) single nucleotide variant Cardiovascular phenotype [RCV003176512] Chr6:112117840 [GRCh38]
Chr6:112439043 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2083A>G (p.Ser695Gly) single nucleotide variant Cardiovascular phenotype [RCV003176513] Chr6:112150601 [GRCh38]
Chr6:112471803 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4170G>A (p.Arg1390=) single nucleotide variant Cardiovascular phenotype [RCV003176514]|not specified [RCV003479504] Chr6:112129039 [GRCh38]
Chr6:112450241 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5448C>A (p.Ser1816Arg) single nucleotide variant Cardiovascular phenotype [RCV003176515] Chr6:112109461 [GRCh38]
Chr6:112430664 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1523C>T (p.Ala508Val) single nucleotide variant Cardiovascular phenotype [RCV003176516] Chr6:112172639 [GRCh38]
Chr6:112493841 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.987A>G (p.Glu329=) single nucleotide variant Cardiovascular phenotype [RCV003176517] Chr6:112185327 [GRCh38]
Chr6:112506529 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1355A>G (p.Glu452Gly) single nucleotide variant Inborn genetic diseases [RCV003203607] Chr6:112175315 [GRCh38]
Chr6:112496517 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.945C>G (p.Asn315Lys) single nucleotide variant Dilated cardiomyopathy 3B [RCV003224962] Chr6:112187471 [GRCh38]
Chr6:112508673 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.587A>G (p.Asn196Ser) single nucleotide variant Cardiovascular phenotype [RCV003188605] Chr6:112191767 [GRCh38]
Chr6:112512969 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1056C>G (p.Asp352Glu) single nucleotide variant Cardiovascular phenotype [RCV003165305] Chr6:112185258 [GRCh38]
Chr6:112506460 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2325C>T (p.Asn775=) single nucleotide variant Cardiovascular phenotype [RCV003187792] Chr6:112148185 [GRCh38]
Chr6:112469387 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2628G>A (p.Glu876=) single nucleotide variant Cardiovascular phenotype [RCV003176519] Chr6:112142158 [GRCh38]
Chr6:112463360 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1133T>G (p.Ile378Ser) single nucleotide variant Cardiovascular phenotype [RCV003176520] Chr6:112178177 [GRCh38]
Chr6:112499379 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2986A>G (p.Ser996Gly) single nucleotide variant Cardiovascular phenotype [RCV003176521] Chr6:112139876 [GRCh38]
Chr6:112461078 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5112+4G>A single nucleotide variant Cardiovascular phenotype [RCV003176522] Chr6:112115859 [GRCh38]
Chr6:112437062 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1035G>T (p.Thr345=) single nucleotide variant Cardiovascular phenotype [RCV003176523] Chr6:112185279 [GRCh38]
Chr6:112506481 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5380C>A (p.Arg1794Ser) single nucleotide variant Cardiovascular phenotype [RCV003176525] Chr6:112109529 [GRCh38]
Chr6:112430732 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4023G>A (p.Gly1341=) single nucleotide variant Cardiovascular phenotype [RCV003176737] Chr6:112129986 [GRCh38]
Chr6:112451188 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1577A>C (p.Gln526Pro) single nucleotide variant Cardiovascular phenotype [RCV003176869] Chr6:112165251 [GRCh38]
Chr6:112486453 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.97C>G (p.Pro33Ala) single nucleotide variant not provided [RCV003225576] Chr6:112254054 [GRCh38]
Chr6:112575256 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1663A>G (p.Ile555Val) single nucleotide variant Cardiovascular phenotype [RCV003165301] Chr6:112165165 [GRCh38]
Chr6:112486367 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3968G>A (p.Arg1323Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003134024] Chr6:112130968 [GRCh38]
Chr6:112452170 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1580T>G (p.Met527Arg) single nucleotide variant Inborn genetic diseases [RCV003309481] Chr6:112165248 [GRCh38]
Chr6:112486450 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.462G>T (p.Arg154=) single nucleotide variant Cardiovascular phenotype [RCV003309995] Chr6:112201649 [GRCh38]
Chr6:112522850 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1077+5G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741346]|not provided [RCV003328812] Chr6:112185232 [GRCh38]
Chr6:112506434 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2354-1G>A single nucleotide variant Cardiovascular phenotype [RCV003381104] Chr6:112144934 [GRCh38]
Chr6:112466136 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1658A>G (p.Asp553Gly) single nucleotide variant Cardiovascular phenotype [RCV003381075] Chr6:112165170 [GRCh38]
Chr6:112486372 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.370G>A (p.Gly124Arg) single nucleotide variant Inborn genetic diseases [RCV003346105] Chr6:112207073 [GRCh38]
Chr6:112528274 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1779T>C (p.His593=) single nucleotide variant not specified [RCV003331610] Chr6:112158770 [GRCh38]
Chr6:112479972 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1354G>A (p.Glu452Lys) single nucleotide variant Cardiovascular phenotype [RCV003387098]|Dilated cardiomyopathy 1JJ [RCV003581931] Chr6:112175316 [GRCh38]
Chr6:112496518 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1336G>A (p.Glu446Lys) single nucleotide variant Cardiovascular phenotype [RCV003387002] Chr6:112175334 [GRCh38]
Chr6:112496536 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3522C>T (p.Tyr1174=) single nucleotide variant Cardiovascular phenotype [RCV003387134]|Dilated cardiomyopathy 1JJ [RCV003778110] Chr6:112134502 [GRCh38]
Chr6:112455704 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.537C>A (p.Leu179=) single nucleotide variant Cardiovascular phenotype [RCV003377724] Chr6:112191817 [GRCh38]
Chr6:112513019 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1122C>T (p.Ser374=) single nucleotide variant Cardiovascular phenotype [RCV003377725] Chr6:112178188 [GRCh38]
Chr6:112499390 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1063G>C (p.Glu355Gln) single nucleotide variant Inborn genetic diseases [RCV003366918] Chr6:112185251 [GRCh38]
Chr6:112506453 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1357+5G>A single nucleotide variant not provided [RCV003457481] Chr6:112175308 [GRCh38]
Chr6:112496510 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1552-5C>T single nucleotide variant Cardiovascular phenotype [RCV003377705] Chr6:112165281 [GRCh38]
Chr6:112486483 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.402T>C (p.Cys134=) single nucleotide variant Cardiovascular phenotype [RCV003377706] Chr6:112207041 [GRCh38]
Chr6:112528242 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2612G>A (p.Arg871Gln) single nucleotide variant Cardiovascular phenotype [RCV003377707] Chr6:112142174 [GRCh38]
Chr6:112463376 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2199G>A (p.Gln733=) single nucleotide variant Cardiovascular phenotype [RCV003377708] Chr6:112148311 [GRCh38]
Chr6:112469513 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2988C>T (p.Ser996=) single nucleotide variant Cardiovascular phenotype [RCV003377709] Chr6:112139874 [GRCh38]
Chr6:112461076 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2895A>G (p.Glu965=) single nucleotide variant Cardiovascular phenotype [RCV003377710] Chr6:112140841 [GRCh38]
Chr6:112462043 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5318G>A (p.Gly1773Asp) single nucleotide variant Cardiovascular phenotype [RCV003377711] Chr6:112114084 [GRCh38]
Chr6:112435287 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3848C>T (p.Ser1283Phe) single nucleotide variant Cardiovascular phenotype [RCV003377712] Chr6:112131088 [GRCh38]
Chr6:112452290 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1816A>G (p.Arg606Gly) single nucleotide variant Cardiovascular phenotype [RCV003377713] Chr6:112158733 [GRCh38]
Chr6:112479935 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2075C>T (p.Ala692Val) single nucleotide variant Cardiovascular phenotype [RCV003377714] Chr6:112150609 [GRCh38]
Chr6:112471811 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.458T>C (p.Val153Ala) single nucleotide variant Cardiovascular phenotype [RCV003377715] Chr6:112201653 [GRCh38]
Chr6:112522854 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.824A>C (p.Lys275Thr) single nucleotide variant Cardiovascular phenotype [RCV003377716] Chr6:112187592 [GRCh38]
Chr6:112508794 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4278G>A (p.Gln1426=) single nucleotide variant Cardiovascular phenotype [RCV003377717] Chr6:112128931 [GRCh38]
Chr6:112450133 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1034C>T (p.Thr345Met) single nucleotide variant Cardiovascular phenotype [RCV003377718]|Dilated cardiomyopathy 1JJ [RCV003581932] Chr6:112185280 [GRCh38]
Chr6:112506482 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4697G>A (p.Arg1566Gln) single nucleotide variant Cardiovascular phenotype [RCV003377719] Chr6:112119280 [GRCh38]
Chr6:112440483 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3208G>T (p.Gly1070Cys) single nucleotide variant Cardiovascular phenotype [RCV003377720] Chr6:112139194 [GRCh38]
Chr6:112460396 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1432C>T (p.Leu478=) single nucleotide variant Cardiovascular phenotype [RCV003377721] Chr6:112172730 [GRCh38]
Chr6:112493932 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.295G>A (p.Val99Met) single nucleotide variant Cardiovascular phenotype [RCV003377723] Chr6:112216370 [GRCh38]
Chr6:112537571 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5326+5G>T single nucleotide variant Cardiovascular phenotype [RCV003377726] Chr6:112114071 [GRCh38]
Chr6:112435274 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.769G>C (p.Glu257Gln) single nucleotide variant Cardiovascular phenotype [RCV003377727] Chr6:112189155 [GRCh38]
Chr6:112510357 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2963C>T (p.Pro988Leu) single nucleotide variant Cardiovascular phenotype [RCV003377728] Chr6:112140773 [GRCh38]
Chr6:112461975 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3641T>C (p.Leu1214Ser) single nucleotide variant Cardiovascular phenotype [RCV003377729] Chr6:112133404 [GRCh38]
Chr6:112454606 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3732C>T (p.Phe1244=) single nucleotide variant Cardiovascular phenotype [RCV003377730] Chr6:112132855 [GRCh38]
Chr6:112454057 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.528C>G (p.Asn176Lys) single nucleotide variant not provided [RCV003481816] Chr6:112191826 [GRCh38]
Chr6:112513028 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3274G>A (p.Val1092Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003875655] Chr6:112139128 [GRCh38]
Chr6:112460330 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4292G>A (p.Gly1431Glu) single nucleotide variant not provided [RCV003481815] Chr6:112122197 [GRCh38]
Chr6:112443400 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1194CAA[2] (p.Asn400del) microsatellite LAMA4-related condition [RCV003420720] Chr6:112175468..112175470 [GRCh38]
Chr6:112496670..112496672 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2172_2173del (p.Asp726fs) microsatellite not provided [RCV003432012] Chr6:112150511..112150512 [GRCh38]
Chr6:112471713..112471714 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2207T>C (p.Leu736Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003829060] Chr6:112148303 [GRCh38]
Chr6:112469505 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.719-6C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003879378] Chr6:112189211 [GRCh38]
Chr6:112510413 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5113-11A>G single nucleotide variant not specified [RCV003489659] Chr6:112114767 [GRCh38]
Chr6:112435970 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1908A>G (p.Glu636=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003829274] Chr6:112155616 [GRCh38]
Chr6:112476818 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2588T>G (p.Leu863Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003880484] Chr6:112142198 [GRCh38]
Chr6:112463400 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4958C>T (p.Thr1653Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003878071] Chr6:112117762 [GRCh38]
Chr6:112438965 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.717A>G (p.Ala239=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003878112] Chr6:112191637 [GRCh38]
Chr6:112512839 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3968+14C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003830212] Chr6:112130954 [GRCh38]
Chr6:112452156 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.405C>T (p.Pro135=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003878451] Chr6:112207038 [GRCh38]
Chr6:112528239 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3864T>C (p.Asn1288=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003878493] Chr6:112131072 [GRCh38]
Chr6:112452274 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1585G>A (p.Val529Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003875919] Chr6:112165243 [GRCh38]
Chr6:112486445 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.6T>A (p.Ala2=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003876211] Chr6:112254145 [GRCh38]
Chr6:112575347 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2961G>C (p.Val987=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741534] Chr6:112140775 [GRCh38]
Chr6:112461977 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2762C>G (p.Ser921Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741643] Chr6:112141409 [GRCh38]
Chr6:112462611 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1077+15A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581500] Chr6:112185222 [GRCh38]
Chr6:112506424 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4287+16G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581530] Chr6:112128906 [GRCh38]
Chr6:112450108 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3687A>C (p.Glu1229Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581542] Chr6:112133358 [GRCh38]
Chr6:112454560 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2672A>T (p.Lys891Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741839] Chr6:112141499 [GRCh38]
Chr6:112462701 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1737A>C (p.Leu579=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741848] Chr6:112158812 [GRCh38]
Chr6:112480014 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.503+12A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581959] Chr6:112201596 [GRCh38]
Chr6:112522797 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2595G>T (p.Met865Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741981] Chr6:112142191 [GRCh38]
Chr6:112463393 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3040G>A (p.Asp1014Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741966] Chr6:112139822 [GRCh38]
Chr6:112461024 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3882T>C (p.Asp1294=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582042] Chr6:112131054 [GRCh38]
Chr6:112452256 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1747A>G (p.Ser583Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740663] Chr6:112158802 [GRCh38]
Chr6:112480004 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3903G>A (p.Gln1301=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741997] Chr6:112131033 [GRCh38]
Chr6:112452235 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5327-3C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742109] Chr6:112109585 [GRCh38]
Chr6:112430788 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2061del (p.Ser687fs) deletion Dilated cardiomyopathy 1JJ [RCV003582176] Chr6:112150623 [GRCh38]
Chr6:112471825 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.885A>C (p.Lys295Asn) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582217] Chr6:112187531 [GRCh38]
Chr6:112508733 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1545C>T (p.Asp515=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740777] Chr6:112172617 [GRCh38]
Chr6:112493819 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1668+8C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740952] Chr6:112165152 [GRCh38]
Chr6:112486354 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1818-19A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740903] Chr6:112155725 [GRCh38]
Chr6:112476927 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.889G>C (p.Gly297Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740936] Chr6:112187527 [GRCh38]
Chr6:112508729 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.268G>A (p.Glu90Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740919] Chr6:112216397 [GRCh38]
Chr6:112537598 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2790C>T (p.Tyr930=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741008] Chr6:112141381 [GRCh38]
Chr6:112462583 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2339C>T (p.Ser780Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582400] Chr6:112148171 [GRCh38]
Chr6:112469373 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3472G>A (p.Val1158Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582235] Chr6:112134552 [GRCh38]
Chr6:112455754 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2089C>T (p.Arg697Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003832469] Chr6:112150595 [GRCh38]
Chr6:112471797 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.440A>T (p.Tyr147Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582452] Chr6:112201671 [GRCh38]
Chr6:112522872 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.701T>G (p.Ile234Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581158] Chr6:112191653 [GRCh38]
Chr6:112512855 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3557+17A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582477] Chr6:112134450 [GRCh38]
Chr6:112455652 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2693C>T (p.Ala898Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003810833] Chr6:112141478 [GRCh38]
Chr6:112462680 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.298-19_298-17del microsatellite Dilated cardiomyopathy 1JJ [RCV003582500] Chr6:112207162..112207164 [GRCh38]
Chr6:112528363..112528365 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.815-2A>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742512] Chr6:112187603 [GRCh38]
Chr6:112508805 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3969-18A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581257] Chr6:112130058 [GRCh38]
Chr6:112451260 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2765A>G (p.Lys922Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742461] Chr6:112141406 [GRCh38]
Chr6:112462608 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.422+17G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581311] Chr6:112207004 [GRCh38]
Chr6:112528205 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1776C>T (p.Asp592=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742582] Chr6:112158773 [GRCh38]
Chr6:112479975 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2694A>C (p.Ala898=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742584] Chr6:112141477 [GRCh38]
Chr6:112462679 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2478A>C (p.Arg826Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740973] Chr6:112144809 [GRCh38]
Chr6:112466011 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2917C>G (p.Leu973Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741653] Chr6:112140819 [GRCh38]
Chr6:112462021 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1514T>C (p.Met505Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741658] Chr6:112172648 [GRCh38]
Chr6:112493850 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.94T>A (p.Phe32Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581485] Chr6:112254057 [GRCh38]
Chr6:112575259 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1169A>T (p.Asp390Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582938] Chr6:112178141 [GRCh38]
Chr6:112499343 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4821+1G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582252] Chr6:112119155 [GRCh38]
Chr6:112440358 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5443_5444dup (p.Val1815_Ser1816insTer) duplication Dilated cardiomyopathy 1JJ [RCV003581512] Chr6:112109464..112109465 [GRCh38]
Chr6:112430667..112430668 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.694G>T (p.Ala232Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582367] Chr6:112191660 [GRCh38]
Chr6:112512862 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2826T>A (p.His942Gln) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741838] Chr6:112140910 [GRCh38]
Chr6:112462112 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.550T>G (p.Cys184Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003583107] Chr6:112191804 [GRCh38]
Chr6:112513006 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4134-9C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742427] Chr6:112129084 [GRCh38]
Chr6:112450286 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.441T>C (p.Tyr147=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742454] Chr6:112201670 [GRCh38]
Chr6:112522871 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2813+15T>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581155] Chr6:112141343 [GRCh38]
Chr6:112462545 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5214A>C (p.Arg1738Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742472] Chr6:112114188 [GRCh38]
Chr6:112435391 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1303C>A (p.Pro435Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742478] Chr6:112175367 [GRCh38]
Chr6:112496569 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.748A>G (p.Ser250Gly) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582565] Chr6:112189176 [GRCh38]
Chr6:112510378 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2118T>G (p.Ser706Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742004] Chr6:112150566 [GRCh38]
Chr6:112471768 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4475+10C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581236] Chr6:112122004 [GRCh38]
Chr6:112443207 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5162C>T (p.Thr1721Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740713] Chr6:112114707 [GRCh38]
Chr6:112435910 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1360C>T (p.Leu454=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741463] Chr6:112172802 [GRCh38]
Chr6:112494004 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3906A>G (p.Ser1302=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741475] Chr6:112131030 [GRCh38]
Chr6:112452232 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4373A>G (p.His1458Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582763] Chr6:112122116 [GRCh38]
Chr6:112443319 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1979C>T (p.Thr660Ile) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740817] Chr6:112154928 [GRCh38]
Chr6:112476130 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4626T>G (p.Ile1542Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742110] Chr6:112120322 [GRCh38]
Chr6:112441525 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2174-5del deletion Dilated cardiomyopathy 1JJ [RCV003741583] Chr6:112148341 [GRCh38]
Chr6:112469543 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.474C>G (p.Asn158Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742142] Chr6:112201637 [GRCh38]
Chr6:112522838 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.308G>T (p.Arg103Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742190] Chr6:112207135 [GRCh38]
Chr6:112528336 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4134-13G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582254] Chr6:112129088 [GRCh38]
Chr6:112450290 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5233T>C (p.Leu1745=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003856339] Chr6:112114169 [GRCh38]
Chr6:112435372 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1537C>G (p.Gln513Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740904] Chr6:112172625 [GRCh38]
Chr6:112493827 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4694G>A (p.Gly1565Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741591] Chr6:112119283 [GRCh38]
Chr6:112440486 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3835-10T>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742214] Chr6:112131111 [GRCh38]
Chr6:112452313 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2814G>A (p.Arg938=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003855609] Chr6:112140922 [GRCh38]
Chr6:112462124 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1668+13G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740925] Chr6:112165147 [GRCh38]
Chr6:112486349 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4887C>T (p.Thr1629=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741612] Chr6:112117833 [GRCh38]
Chr6:112439036 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1189+17C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003583133] Chr6:112178104 [GRCh38]
Chr6:112499306 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4651G>T (p.Gly1551Cys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003583140] Chr6:112120297 [GRCh38]
Chr6:112441500 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2194G>C (p.Gly732Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003836584] Chr6:112148316 [GRCh38]
Chr6:112469518 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4110C>T (p.Cys1370=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741951] Chr6:112129899 [GRCh38]
Chr6:112451101 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1135A>T (p.Asn379Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740700] Chr6:112178175 [GRCh38]
Chr6:112499377 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.201C>G (p.Cys67Trp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742043] Chr6:112216464 [GRCh38]
Chr6:112537665 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.805C>T (p.Pro269Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582453] Chr6:112189119 [GRCh38]
Chr6:112510321 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.713G>C (p.Cys238Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582515] Chr6:112191641 [GRCh38]
Chr6:112512843 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3136C>T (p.Arg1046Trp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741089] Chr6:112139266 [GRCh38]
Chr6:112460468 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1078-6T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742392] Chr6:112178238 [GRCh38]
Chr6:112499440 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3143C>A (p.Ala1048Asp) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581080] Chr6:112139259 [GRCh38]
Chr6:112460461 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4821+7C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741458] Chr6:112119149 [GRCh38]
Chr6:112440352 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2676del (p.Glu893fs) deletion Dilated cardiomyopathy 1JJ [RCV003742511] Chr6:112141495 [GRCh38]
Chr6:112462697 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1190-14G>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582856] Chr6:112175494 [GRCh38]
Chr6:112496696 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1718A>G (p.Gln573Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741492] Chr6:112158831 [GRCh38]
Chr6:112480033 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1551+11C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582872] Chr6:112172600 [GRCh38]
Chr6:112493802 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.454G>A (p.Ala152Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582888] Chr6:112201657 [GRCh38]
Chr6:112522858 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.422+20G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003581553] Chr6:112207001 [GRCh38]
Chr6:112528202 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5224G>A (p.Val1742Met) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742378] Chr6:112114178 [GRCh38]
Chr6:112435381 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.20G>T (p.Trp7Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003837104] Chr6:112254131 [GRCh38]
Chr6:112575333 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2471A>G (p.Gln824Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003814803] Chr6:112144816 [GRCh38]
Chr6:112466018 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1153G>C (p.Val385Leu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741428] Chr6:112178157 [GRCh38]
Chr6:112499359 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.349T>C (p.Tyr117His) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003740786] Chr6:112207094 [GRCh38]
Chr6:112528295 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.43C>T (p.Leu15Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582826] Chr6:112254108 [GRCh38]
Chr6:112575310 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4958C>G (p.Thr1653Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742316] Chr6:112117762 [GRCh38]
Chr6:112438965 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1177G>T (p.Asp393Tyr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741744] Chr6:112178133 [GRCh38]
Chr6:112499335 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3482T>C (p.Met1161Thr) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741803] Chr6:112134542 [GRCh38]
Chr6:112455744 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3557+6G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003583113] Chr6:112134461 [GRCh38]
Chr6:112455663 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1578A>G (p.Gln526=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582592] Chr6:112165250 [GRCh38]
Chr6:112486452 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2173+8T>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003836373] Chr6:112150503 [GRCh38]
Chr6:112471705 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3572A>C (p.His1191Pro) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742548] Chr6:112133473 [GRCh38]
Chr6:112454675 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4981+19A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582609] Chr6:112117720 [GRCh38]
Chr6:112438923 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.196-11G>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003741983] Chr6:112216480 [GRCh38]
Chr6:112537681 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4820A>G (p.Gln1607Arg) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742038] Chr6:112119157 [GRCh38]
Chr6:112440360 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5327-16T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742080] Chr6:112109598 [GRCh38]
Chr6:112430801 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5419A>G (p.Lys1807Glu) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003742095] Chr6:112109490 [GRCh38]
Chr6:112430693 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2951T>C (p.Val984Ala) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582181] Chr6:112140785 [GRCh38]
Chr6:112461987 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.5207-8C>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582185] Chr6:112114203 [GRCh38]
Chr6:112435406 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5339_5359del (p.Thr1780_Ser1786del) deletion Dilated cardiomyopathy 1JJ [RCV003741457] Chr6:112109550..112109570 [GRCh38]
Chr6:112430753..112430773 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4859A>G (p.Asn1620Ser) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003832258] Chr6:112117861 [GRCh38]
Chr6:112439064 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.488G>T (p.Gly163Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582007] Chr6:112201623 [GRCh38]
Chr6:112522824 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.633T>A (p.Asn211Lys) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003582250] Chr6:112191721 [GRCh38]
Chr6:112512923 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.3364C>T (p.Leu1122Phe) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003845951] Chr6:112136173 [GRCh38]
Chr6:112457375 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.1365C>T (p.Ser455=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003866008] Chr6:112172797 [GRCh38]
Chr6:112493999 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.3252C>T (p.Asp1084=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003840901] Chr6:112139150 [GRCh38]
Chr6:112460352 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1852C>T (p.Gln618Ter) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003842641] Chr6:112155672 [GRCh38]
Chr6:112476874 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4287+11A>G single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003840647] Chr6:112128911 [GRCh38]
Chr6:112450113 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.297+11G>A single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003821357] Chr6:112216357 [GRCh38]
Chr6:112537558 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4288-9C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003868351] Chr6:112122210 [GRCh38]
Chr6:112443413 [GRCh37]
Chr6:6q21		 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
GRCh37/hg19 6q21(chr6:112107860-113572662)x1 copy number loss not specified [RCV003986615] Chr6:112107860..113572662 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.4133+13T>C single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003843145] Chr6:112129863 [GRCh38]
Chr6:112451065 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.2502C>T (p.Val834=) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003862930] Chr6:112142284 [GRCh38]
Chr6:112463486 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.1544A>T (p.Asp515Val) single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003846991] Chr6:112172618 [GRCh38]
Chr6:112493820 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.2056+18C>T single nucleotide variant Dilated cardiomyopathy 1JJ [RCV003823592] Chr6:112154833 [GRCh38]
Chr6:112476035 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.4066G>A (p.Gly1356Ser) single nucleotide variant LAMA4-related condition [RCV003982548] Chr6:112129943 [GRCh38]
Chr6:112451145 [GRCh37]
Chr6:6q21		 uncertain significance
NM_001105206.3(LAMA4):c.195+39T>A single nucleotide variant LAMA4-related condition [RCV003894130] Chr6:112253917 [GRCh38]
Chr6:112575119 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.195+120C>G single nucleotide variant LAMA4-related condition [RCV003956857] Chr6:112253836 [GRCh38]
Chr6:112575038 [GRCh37]
Chr6:6q21		 likely benign
NM_001105206.3(LAMA4):c.5067_5068del (p.His1689fs) microsatellite LAMA4-related condition [RCV003901851] Chr6:112115907..112115908 [GRCh38]
Chr6:112437110..112437111 [GRCh37]
Chr6:6q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3712
Count of miRNA genes:1124
Interacting mature miRNAs:1419
Transcripts:ENST00000230538, ENST00000243219, ENST00000368638, ENST00000368640, ENST00000389463, ENST00000423735, ENST00000424408, ENST00000431543, ENST00000453937, ENST00000455073, ENST00000518842, ENST00000519245, ENST00000519932, ENST00000521187, ENST00000521398, ENST00000521690, ENST00000521693, ENST00000521732, ENST00000522006, ENST00000523765, ENST00000524032, ENST00000604740
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D6S416  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,451,388 - 112,451,644UniSTSGRCh37
GRCh376112,451,451 - 112,451,514UniSTSGRCh37
GRCh376112,451,451 - 112,451,594UniSTSGRCh37
Build 366112,558,144 - 112,558,207RGDNCBI36
Celera6113,192,762 - 113,192,825RGD
Celera6113,192,699 - 113,192,955UniSTS
Celera6113,192,762 - 113,192,905UniSTS
Cytogenetic Map6q21UniSTS
HuRef6110,026,324 - 110,026,387UniSTS
HuRef6110,026,324 - 110,026,471UniSTS
HuRef6110,026,261 - 110,026,521UniSTS
Marshfield Genetic Map6118.64RGD
Genethon Genetic Map6118.1UniSTS
TNG Radiation Hybrid Map653299.0UniSTS
deCODE Assembly Map6116.28UniSTS
Stanford-G3 RH Map64697.0UniSTS
Whitehead-RH Map6693.3UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61435.8UniSTS
GeneMap99-G3 RH Map65000.0UniSTS
RH18133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,430,392 - 112,430,518UniSTSGRCh37
Build 366112,537,085 - 112,537,211RGDNCBI36
Celera6113,171,699 - 113,171,825RGD
Cytogenetic Map6q21UniSTS
HuRef6110,005,253 - 110,005,379UniSTS
GeneMap99-GB4 RH Map6469.96UniSTS
NCBI RH Map61428.3UniSTS
RH92961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,534,884 - 112,535,010UniSTSGRCh37
Build 366112,641,577 - 112,641,703RGDNCBI36
Celera6113,276,161 - 113,276,287RGD
Cytogenetic Map6q21UniSTS
HuRef6110,109,703 - 110,109,829UniSTS
GeneMap99-GB4 RH Map6482.1UniSTS
RH79598  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,575,017 - 112,575,260UniSTSGRCh37
Build 366112,681,710 - 112,681,953RGDNCBI36
Celera6113,316,295 - 113,316,538RGD
Cytogenetic Map6q21UniSTS
HuRef6110,149,832 - 110,150,075UniSTS
SHGC-82095  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,566,369 - 112,566,659UniSTSGRCh37
Build 366112,673,062 - 112,673,352RGDNCBI36
Celera6113,307,646 - 113,307,936RGD
Cytogenetic Map6q21UniSTS
HuRef6110,141,180 - 110,141,470UniSTS
TNG Radiation Hybrid Map653272.0UniSTS
SHGC-84081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,537,276 - 112,537,616UniSTSGRCh37
Build 366112,643,969 - 112,644,309RGDNCBI36
Celera6113,278,553 - 113,278,893RGD
Cytogenetic Map6q21UniSTS
HuRef6110,112,096 - 110,112,436UniSTS
TNG Radiation Hybrid Map653276.0UniSTS
WI-18524  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,431,031 - 112,431,180UniSTSGRCh37
Build 366112,537,724 - 112,537,873RGDNCBI36
Celera6113,172,338 - 113,172,487RGD
Cytogenetic Map6q21UniSTS
HuRef6110,005,892 - 110,006,041UniSTS
GeneMap99-GB4 RH Map6474.44UniSTS
Whitehead-RH Map6690.5UniSTS
A006N46  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,429,202 - 112,429,301UniSTSGRCh37
Build 366112,535,895 - 112,535,994RGDNCBI36
Celera6113,170,509 - 113,170,608RGD
Cytogenetic Map6q21UniSTS
HuRef6110,004,063 - 110,004,162UniSTS
GeneMap99-GB4 RH Map6459.92UniSTS
D6S1133E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,430,560 - 112,430,670UniSTSGRCh37
Build 366112,537,253 - 112,537,363RGDNCBI36
Celera6113,171,867 - 113,171,977RGD
Cytogenetic Map6q21UniSTS
HuRef6110,005,421 - 110,005,531UniSTS
GeneMap99-GB4 RH Map6477.74UniSTS
D6S1066  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,438,738 - 112,438,951UniSTSGRCh37
Build 366112,545,431 - 112,545,644RGDNCBI36
Celera6113,180,045 - 113,180,258RGD
Cytogenetic Map6q21UniSTS
HuRef6110,013,607 - 110,013,820UniSTS
Stanford-G3 RH Map64692.0UniSTS
Whitehead-YAC Contig Map6 UniSTS
NCBI RH Map61432.7UniSTS
G20221  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,431,004 - 112,431,153UniSTSGRCh37
Build 366112,537,697 - 112,537,846RGDNCBI36
Celera6113,172,311 - 113,172,460RGD
Cytogenetic Map6q21UniSTS
HuRef6110,005,865 - 110,006,014UniSTS
A005A32  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,431,004 - 112,431,153UniSTSGRCh37
Build 366112,537,697 - 112,537,846RGDNCBI36
Celera6113,172,311 - 113,172,460RGD
Cytogenetic Map6q21UniSTS
HuRef6110,005,865 - 110,006,014UniSTS
GeneMap99-GB4 RH Map6469.96UniSTS
NCBI RH Map61428.3UniSTS
RH45937  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,510,014 - 112,510,141UniSTSGRCh37
Build 366112,616,707 - 112,616,834RGDNCBI36
Celera6113,251,299 - 113,251,426RGD
Cytogenetic Map6q21UniSTS
HuRef6110,084,849 - 110,084,976UniSTS
GeneMap99-GB4 RH Map6482.1UniSTS
NCBI RH Map61448.9UniSTS
WI-11550  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,484,996 - 112,485,120UniSTSGRCh37
Build 366112,591,689 - 112,591,813RGDNCBI36
Celera6113,226,307 - 113,226,431RGD
Cytogenetic Map6q21UniSTS
HuRef6110,059,853 - 110,059,977UniSTS
GeneMap99-GB4 RH Map6475.01UniSTS
GeneMap99-GB4 RH Map6474.54UniSTS
Whitehead-RH Map6691.1UniSTS
NCBI RH Map61434.4UniSTS
SGC38229  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,509,931 - 112,510,203UniSTSGRCh37
Build 366112,616,624 - 112,616,896RGDNCBI36
Celera6113,251,216 - 113,251,488RGD
Cytogenetic Map6q21UniSTS
HuRef6110,084,766 - 110,085,038UniSTS
GeneMap99-GB4 RH Map6480.16UniSTS
Whitehead-RH Map6693.3UniSTS
WI-12186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh376112,431,021 - 112,431,158UniSTSGRCh37
Build 366112,537,714 - 112,537,851RGDNCBI36
Celera6113,172,328 - 113,172,465RGD
Cytogenetic Map6q21UniSTS
HuRef6110,005,882 - 110,006,019UniSTS
GeneMap99-GB4 RH Map6478.13UniSTS
Whitehead-RH Map6691.2UniSTS
NCBI RH Map61429.4UniSTS
D6S416  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q21UniSTS
TNG Radiation Hybrid Map653299.0UniSTS
D6S416  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6q21UniSTS
Marshfield Genetic Map6118.64UniSTS
Genethon Genetic Map6118.1UniSTS
deCODE Assembly Map6116.28UniSTS
Whitehead-RH Map6693.3UniSTS
Whitehead-YAC Contig Map6 UniSTS


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 2078 1832 817 104 205 44 3028 1194 844 188 1136 1353 63 1204 1859 1
Low 280 433 881 501 334 401 1311 978 2854 212 273 166 109 1 929 3 2
Below cutoff 31 710 21 15 843 16 17 13 32 11 31 68 2 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266983 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005266984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010854 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047418771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355418 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054355423 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001743407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB210027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ710266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027151 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304401 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL590106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC004241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC026237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC066552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM014298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM662226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP234809 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471051 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068272 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR407622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB271101 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S78569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U77706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X70904 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X76939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X91171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y14240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z99289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000230538   ⟹   ENSP00000230538
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,107,931 - 112,254,567 (-)Ensembl
RefSeq Acc Id: ENST00000243219   ⟹   ENSP00000243219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,216,402 - 112,254,538 (-)Ensembl
RefSeq Acc Id: ENST00000368638   ⟹   ENSP00000357627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,253,782 - 112,254,567 (-)Ensembl
RefSeq Acc Id: ENST00000368640   ⟹   ENSP00000357629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,179,766 - 112,191,764 (-)Ensembl
RefSeq Acc Id: ENST00000389463   ⟹   ENSP00000374114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,108,757 - 112,254,567 (-)Ensembl
RefSeq Acc Id: ENST00000423735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,200,133 - 112,216,449 (-)Ensembl
RefSeq Acc Id: ENST00000424408   ⟹   ENSP00000416470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,109,293 - 112,254,538 (-)Ensembl
RefSeq Acc Id: ENST00000431543   ⟹   ENSP00000412136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,213,543 - 112,254,572 (-)Ensembl
RefSeq Acc Id: ENST00000453937   ⟹   ENSP00000398226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,253,784 - 112,254,578 (-)Ensembl
RefSeq Acc Id: ENST00000455073   ⟹   ENSP00000408604
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,253,790 - 112,254,647 (-)Ensembl
RefSeq Acc Id: ENST00000518842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,188,892 - 112,191,801 (-)Ensembl
RefSeq Acc Id: ENST00000519245
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,135,825 - 112,139,276 (-)Ensembl
RefSeq Acc Id: ENST00000519932   ⟹   ENSP00000428583
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,207,123 - 112,254,722 (-)Ensembl
RefSeq Acc Id: ENST00000521187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,171,630 - 112,179,502 (-)Ensembl
RefSeq Acc Id: ENST00000521398   ⟹   ENSP00000430336
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,185,319 - 112,254,485 (-)Ensembl
RefSeq Acc Id: ENST00000521690   ⟹   ENSP00000430415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,216,421 - 112,254,939 (-)Ensembl
RefSeq Acc Id: ENST00000521693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,122,061 - 112,130,159 (-)Ensembl
RefSeq Acc Id: ENST00000521732   ⟹   ENSP00000427865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,179,735 - 112,191,811 (-)Ensembl
RefSeq Acc Id: ENST00000522006   ⟹   ENSP00000429488
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,108,860 - 112,254,710 (-)Ensembl
RefSeq Acc Id: ENST00000523765   ⟹   ENSP00000427837
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,142,144 - 112,165,164 (-)Ensembl
RefSeq Acc Id: ENST00000524032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,191,719 - 112,216,754 (-)Ensembl
RefSeq Acc Id: ENST00000604740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,121,775 - 112,129,988 (-)Ensembl
RefSeq Acc Id: ENST00000651529   ⟹   ENSP00000499099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,109,173 - 112,132,792 (-)Ensembl
RefSeq Acc Id: ENST00000651860   ⟹   ENSP00000498842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl6112,109,149 - 112,150,553 (-)Ensembl
RefSeq Acc Id: NM_001105206   ⟹   NP_001098676
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,567 (-)NCBI
GRCh376112,429,134 - 112,575,924 (-)NCBI
Build 366112,535,827 - 112,682,521 (-)NCBI Archive
HuRef6110,003,995 - 110,150,732 (-)NCBI
CHM1_16112,691,472 - 112,838,207 (-)NCBI
T2T-CHM13v2.06113,291,349 - 113,438,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001105207   ⟹   NP_001098677
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,567 (-)NCBI
GRCh376112,429,134 - 112,575,924 (-)NCBI
Build 366112,535,827 - 112,682,521 (-)NCBI Archive
HuRef6110,003,995 - 110,150,732 (-)NCBI
CHM1_16112,691,472 - 112,838,207 (-)NCBI
T2T-CHM13v2.06113,291,349 - 113,438,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001105208   ⟹   NP_001098678
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,253,788 - 112,254,567 (-)NCBI
GRCh376112,429,134 - 112,575,924 (-)NCBI
Build 366112,681,679 - 112,682,521 (-)NCBI Archive
HuRef6110,003,995 - 110,150,732 (-)NCBI
CHM1_16112,837,274 - 112,838,207 (-)NCBI
T2T-CHM13v2.06113,437,222 - 113,438,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001105209   ⟹   NP_001098679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,253,788 - 112,254,567 (-)NCBI
GRCh376112,429,134 - 112,575,924 (-)NCBI
Build 366112,681,679 - 112,682,521 (-)NCBI Archive
HuRef6110,003,995 - 110,150,732 (-)NCBI
CHM1_16112,837,274 - 112,838,207 (-)NCBI
T2T-CHM13v2.06113,437,222 - 113,438,001 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002290   ⟹   NP_002281
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,567 (-)NCBI
GRCh376112,429,134 - 112,575,924 (-)NCBI
Build 366112,535,827 - 112,682,521 (-)NCBI Archive
HuRef6110,003,995 - 110,150,732 (-)NCBI
CHM1_16112,691,472 - 112,838,207 (-)NCBI
T2T-CHM13v2.06113,291,349 - 113,438,001 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266983   ⟹   XP_005267040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,567 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005266984   ⟹   XP_005267041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,724 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017010854   ⟹   XP_016866343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,724 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047418769   ⟹   XP_047274725
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,966 (-)NCBI
RefSeq Acc Id: XM_047418770   ⟹   XP_047274726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,107,931 - 112,254,985 (-)NCBI
RefSeq Acc Id: XM_047418771   ⟹   XP_047274727
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,129,987 - 112,254,567 (-)NCBI
RefSeq Acc Id: XM_054355418   ⟹   XP_054211393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06113,291,349 - 113,438,001 (-)NCBI
RefSeq Acc Id: XM_054355419   ⟹   XP_054211394
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06113,291,349 - 113,438,186 (-)NCBI
RefSeq Acc Id: XM_054355420   ⟹   XP_054211395
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06113,291,349 - 113,438,400 (-)NCBI
RefSeq Acc Id: XM_054355421   ⟹   XP_054211396
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06113,291,349 - 113,438,186 (-)NCBI
RefSeq Acc Id: XM_054355422   ⟹   XP_054211397
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06113,291,349 - 113,438,419 (-)NCBI
RefSeq Acc Id: XM_054355423   ⟹   XP_054211398
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.06113,313,407 - 113,438,001 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001098676 (Get FASTA)   NCBI Sequence Viewer  
  NP_001098677 (Get FASTA)   NCBI Sequence Viewer  
  NP_001098678 (Get FASTA)   NCBI Sequence Viewer  
  NP_001098679 (Get FASTA)   NCBI Sequence Viewer  
  NP_002281 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267040 (Get FASTA)   NCBI Sequence Viewer  
  XP_005267041 (Get FASTA)   NCBI Sequence Viewer  
  XP_016866343 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274725 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274726 (Get FASTA)   NCBI Sequence Viewer  
  XP_047274727 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211393 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211394 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211395 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211396 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211397 (Get FASTA)   NCBI Sequence Viewer  
  XP_054211398 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB34635 (Get FASTA)   NCBI Sequence Viewer  
  AAB36540 (Get FASTA)   NCBI Sequence Viewer  
  AAH04241 (Get FASTA)   NCBI Sequence Viewer  
  AAH26237 (Get FASTA)   NCBI Sequence Viewer  
  AAH66552 (Get FASTA)   NCBI Sequence Viewer  
  AAP35336 (Get FASTA)   NCBI Sequence Viewer  
  BAE06109 (Get FASTA)   NCBI Sequence Viewer  
  BAH14174 (Get FASTA)   NCBI Sequence Viewer  
  CAA50261 (Get FASTA)   NCBI Sequence Viewer  
  CAA54258 (Get FASTA)   NCBI Sequence Viewer  
  CAA62596 (Get FASTA)   NCBI Sequence Viewer  
  CAA74636 (Get FASTA)   NCBI Sequence Viewer  
  CAG28550 (Get FASTA)   NCBI Sequence Viewer  
  EAW48266 (Get FASTA)   NCBI Sequence Viewer  
  EAW48267 (Get FASTA)   NCBI Sequence Viewer  
  EAW48268 (Get FASTA)   NCBI Sequence Viewer  
  EAW48269 (Get FASTA)   NCBI Sequence Viewer  
  EAW48270 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000230538
  ENSP00000230538.7
  ENSP00000243219.3
  ENSP00000357627
  ENSP00000357627.4
  ENSP00000357629.4
  ENSP00000374114
  ENSP00000374114.4
  ENSP00000398226
  ENSP00000398226.2
  ENSP00000408604.1
  ENSP00000412136.2
  ENSP00000416470.2
  ENSP00000427837.1
  ENSP00000427865.1
  ENSP00000428583.1
  ENSP00000429488
  ENSP00000429488.1
  ENSP00000430336.1
  ENSP00000430415.1
  ENSP00000498842.1
  ENSP00000499099.1
GenBank Protein Q16363 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_002281   ⟸   NM_002290
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0A0MTC7 (UniProtKB/TrEMBL),   Q5D044 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001098676   ⟸   NM_001105206
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UJN9 (UniProtKB/Swiss-Prot),   Q9UE18 (UniProtKB/Swiss-Prot),   Q9BTB8 (UniProtKB/Swiss-Prot),   Q5SZG8 (UniProtKB/Swiss-Prot),   Q4LE44 (UniProtKB/Swiss-Prot),   Q15335 (UniProtKB/Swiss-Prot),   Q14735 (UniProtKB/Swiss-Prot),   Q14731 (UniProtKB/Swiss-Prot),   Q16363 (UniProtKB/Swiss-Prot),   A0A0A0MQS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001098677   ⟸   NM_001105207
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0A0MTC7 (UniProtKB/TrEMBL),   Q5D044 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001098678   ⟸   NM_001105208
- Peptide Label: isoform 3 precursor
- UniProtKB: Q16363 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001098679   ⟸   NM_001105209
- Peptide Label: isoform 3 precursor
- UniProtKB: Q16363 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005267041   ⟸   XM_005266984
- Peptide Label: isoform X1
- UniProtKB: Q9UJN9 (UniProtKB/Swiss-Prot),   Q9UE18 (UniProtKB/Swiss-Prot),   Q9BTB8 (UniProtKB/Swiss-Prot),   Q5SZG8 (UniProtKB/Swiss-Prot),   Q4LE44 (UniProtKB/Swiss-Prot),   Q15335 (UniProtKB/Swiss-Prot),   Q14735 (UniProtKB/Swiss-Prot),   Q14731 (UniProtKB/Swiss-Prot),   Q16363 (UniProtKB/Swiss-Prot),   A0A0A0MQS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005267040   ⟸   XM_005266983
- Peptide Label: isoform X1
- UniProtKB: Q9UJN9 (UniProtKB/Swiss-Prot),   Q9UE18 (UniProtKB/Swiss-Prot),   Q9BTB8 (UniProtKB/Swiss-Prot),   Q5SZG8 (UniProtKB/Swiss-Prot),   Q4LE44 (UniProtKB/Swiss-Prot),   Q15335 (UniProtKB/Swiss-Prot),   Q14735 (UniProtKB/Swiss-Prot),   Q14731 (UniProtKB/Swiss-Prot),   Q16363 (UniProtKB/Swiss-Prot),   A0A0A0MQS9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016866343   ⟸   XM_017010854
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MTC7 (UniProtKB/TrEMBL),   Q5D044 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000416470   ⟸   ENST00000424408
RefSeq Acc Id: ENSP00000428583   ⟸   ENST00000519932
RefSeq Acc Id: ENSP00000398226   ⟸   ENST00000453937
RefSeq Acc Id: ENSP00000243219   ⟸   ENST00000243219
RefSeq Acc Id: ENSP00000374114   ⟸   ENST00000389463
RefSeq Acc Id: ENSP00000498842   ⟸   ENST00000651860
RefSeq Acc Id: ENSP00000499099   ⟸   ENST00000651529
RefSeq Acc Id: ENSP00000408604   ⟸   ENST00000455073
RefSeq Acc Id: ENSP00000230538   ⟸   ENST00000230538
RefSeq Acc Id: ENSP00000430336   ⟸   ENST00000521398
RefSeq Acc Id: ENSP00000427865   ⟸   ENST00000521732
RefSeq Acc Id: ENSP00000430415   ⟸   ENST00000521690
RefSeq Acc Id: ENSP00000429488   ⟸   ENST00000522006
RefSeq Acc Id: ENSP00000427837   ⟸   ENST00000523765
RefSeq Acc Id: ENSP00000412136   ⟸   ENST00000431543
RefSeq Acc Id: ENSP00000357627   ⟸   ENST00000368638
RefSeq Acc Id: ENSP00000357629   ⟸   ENST00000368640
RefSeq Acc Id: XP_047274726   ⟸   XM_047418770
- Peptide Label: isoform X2
- UniProtKB: A0A0A0MTC7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274725   ⟸   XM_047418769
- Peptide Label: isoform X1
- UniProtKB: A0A0A0MQS9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047274727   ⟸   XM_047418771
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054211397   ⟸   XM_054355422
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211395   ⟸   XM_054355420
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211396   ⟸   XM_054355421
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054211394   ⟸   XM_054355419
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211393   ⟸   XM_054355418
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054211398   ⟸   XM_054355423
- Peptide Label: isoform X3
Protein Domains
Laminin EGF-like   Laminin G   Laminin G-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q16363-F1-model_v2 AlphaFold Q16363 1-1823 view protein structure

Promoters
RGD ID:7208927
Promoter ID:EPDNEW_H10209
Type:initiation region
Name:LAMA4_1
Description:laminin subunit alpha 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H10210  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh386112,254,567 - 112,254,627EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6484 AgrOrtholog
COSMIC LAMA4 COSMIC
Ensembl Genes ENSG00000112769 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000230538 ENTREZGENE
  ENST00000230538.12 UniProtKB/TrEMBL
  ENST00000243219.7 UniProtKB/TrEMBL
  ENST00000368638 ENTREZGENE
  ENST00000368638.5 UniProtKB/Swiss-Prot
  ENST00000368640.8 UniProtKB/TrEMBL
  ENST00000389463 ENTREZGENE
  ENST00000389463.9 UniProtKB/TrEMBL
  ENST00000424408.6 UniProtKB/TrEMBL
  ENST00000431543.6 UniProtKB/TrEMBL
  ENST00000453937 ENTREZGENE
  ENST00000453937.2 UniProtKB/Swiss-Prot
  ENST00000455073.1 UniProtKB/Swiss-Prot
  ENST00000519932.5 UniProtKB/TrEMBL
  ENST00000521398.5 UniProtKB/TrEMBL
  ENST00000521690.1 UniProtKB/TrEMBL
  ENST00000521732.5 UniProtKB/TrEMBL
  ENST00000522006 ENTREZGENE
  ENST00000522006.5 UniProtKB/TrEMBL
  ENST00000523765.1 UniProtKB/TrEMBL
  ENST00000651529.1 UniProtKB/TrEMBL
  ENST00000651860.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000112769 GTEx
HGNC ID HGNC:6484 ENTREZGENE
Human Proteome Map LAMA4 Human Proteome Map
InterPro ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Growth_fac_rcpt_N_dom 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
KEGG Report hsa:3910 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 3910 ENTREZGENE
OMIM 600133 OMIM
PANTHER AXOTACTIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KON-TIKI, ISOFORM B UniProtKB/TrEMBL
  LAMININ ALPHA 4 UniProtKB/TrEMBL
  MULTIPLE EPIDERMAL GROWTH FACTOR-LIKE DOMAINS PROTEIN 9 UniProtKB/TrEMBL
  NETRIN/LAMININ-RELATED UniProtKB/TrEMBL
  PIKACHURIN-LIKE PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10574:SF444 UniProtKB/TrEMBL
Pfam Laminin_EGF 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
PharmGKB PA30273 PharmGKB
PROSITE EGF_1 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
SMART EGF UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EGF_Lam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LamG UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP EGF/Laminin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF57184 UniProtKB/TrEMBL
UniProt A0A0A0MQS9 ENTREZGENE, UniProtKB/TrEMBL
  A0A0A0MTC7 ENTREZGENE, UniProtKB/TrEMBL
  A0A494C139_HUMAN UniProtKB/TrEMBL
  A0A494C1K8_HUMAN UniProtKB/TrEMBL
  E5RFD7_HUMAN UniProtKB/TrEMBL
  E5RFQ2_HUMAN UniProtKB/TrEMBL
  E5RHF3_HUMAN UniProtKB/TrEMBL
  E5RK79_HUMAN UniProtKB/TrEMBL
  H0Y351_HUMAN UniProtKB/TrEMBL
  H0YAP9_HUMAN UniProtKB/TrEMBL
  H0YAQ5_HUMAN UniProtKB/TrEMBL
  LAMA4_HUMAN UniProtKB/Swiss-Prot
  Q05CF9_HUMAN UniProtKB/TrEMBL
  Q14731 ENTREZGENE
  Q14735 ENTREZGENE
  Q15335 ENTREZGENE
  Q16363 ENTREZGENE
  Q4LE44 ENTREZGENE
  Q5D044 ENTREZGENE, UniProtKB/TrEMBL
  Q5SZG8 ENTREZGENE
  Q6LET9_HUMAN UniProtKB/TrEMBL
  Q9BTB8 ENTREZGENE
  Q9UE18 ENTREZGENE
  Q9UJN9 ENTREZGENE
UniProt Secondary Q14731 UniProtKB/Swiss-Prot
  Q14735 UniProtKB/Swiss-Prot
  Q15335 UniProtKB/Swiss-Prot
  Q4LE44 UniProtKB/Swiss-Prot
  Q5SZG8 UniProtKB/Swiss-Prot
  Q9BTB8 UniProtKB/Swiss-Prot
  Q9UE18 UniProtKB/Swiss-Prot
  Q9UJN9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 LAMA4  laminin subunit alpha 4  LAMA4  laminin, alpha 4  Symbol and/or name change 5135510 APPROVED