TNNC1 (troponin C1, slow skeletal and cardiac type) - Rat Genome Database

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Gene: TNNC1 (troponin C1, slow skeletal and cardiac type) Homo sapiens
Analyze
Symbol: TNNC1
Name: troponin C1, slow skeletal and cardiac type
RGD ID: 1320524
HGNC Page HGNC:11943
Description: Enables several functions, including calcium-dependent protein binding activity; cytoskeletal protein binding activity; and protein homodimerization activity. Involved in cardiac muscle contraction; regulation of muscle contraction; and ventricular cardiac muscle tissue morphogenesis. Part of cardiac Troponin complex. Implicated in dilated cardiomyopathy 1Z; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 13.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac troponin C; CMD1Z; CMH13; slow twitch skeletal/cardiac muscle troponin C; TN-C; TNC; TNNC; troponin C type 1 (slow); troponin c, slow; troponin C, slow skeletal and cardiac muscles; troponin C1, slow
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38352,451,100 - 52,454,041 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,451,100 - 52,454,041 (-)EnsemblGRCh38hg38GRCh38
GRCh37352,485,116 - 52,488,057 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,460,158 - 52,463,098 (-)NCBINCBI36Build 36hg18NCBI36
Build 34352,460,157 - 52,463,098NCBI
Celera352,464,352 - 52,467,302 (-)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef352,547,765 - 52,550,715 (-)NCBIHuRef
CHM1_1352,437,484 - 52,440,434 (-)NCBICHM1_1
T2T-CHM13v2.0352,484,001 - 52,486,942 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,2-dichloroethane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-hydroxypropanoic acid  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (ISO)
amphetamine  (ISO)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (EXP,ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
C60 fullerene  (ISO)
cadmium dichloride  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
cantharidin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
choline  (ISO)
cobalt atom  (ISO)
cycloheximide  (EXP)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dioxygen  (ISO)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
Echimidine  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
esketamine  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
Heliotrine  (ISO)
indole-3-methanol  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lithium chloride  (EXP)
manganese(II) chloride  (ISO)
methylmercury chloride  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (EXP)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP)
quercetin  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
senecionine  (ISO)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
succimer  (EXP)
sulforaphane  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP,ISO)
thalidomide  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
triclosan  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
triticonazole  (ISO)
trovafloxacin  (ISO)
urethane  (EXP)
valproic acid  (EXP)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
acebutolol pharmacodynamics pathway   (EXP)
adrenergic beta receptor agonist and beta-blocker pharmacodynamics pathway  (EXP)
amiodarone pharmacodynamics pathway  (EXP)
amlodipine pharmacodynamics pathway  (EXP)
atenolol pharmacodynamics pathway  (EXP)
betaxolol pharmacodynamics pathway  (EXP)
bisoprolol pharmacodynamics pathway  (EXP)
bupranolol drug pathway  (EXP)
bupranolol pharmacodynamics pathway   (EXP)
calcium/calcium-mediated signaling pathway  (TAS)
carvedilol pharmacodynamics pathway  (EXP)
dilated cardiomyopathy pathway  (IEA)
diltiazem pharmacodynamics pathway  (EXP)
disopyramide pharmacodynamics pathway  (EXP)
dobutamine pharmacodynamics pathway  (EXP)
esmolol pharmacodynamics pathway  (EXP)
flecainde pharmacodynamics pathway  (EXP)
fosphenytoin pharmacodynamics pathway  (EXP)
hypertrophic cardiomyopathy pathway  (IEA)
ibutilide pharmacodynamics pathway  (EXP)
isoprenaline pharmacodynamics pathway  (EXP)
isradipine pharmacodynamics pathway  (EXP)
levobunolol pharmacodynamics pathway  (EXP)
lidocaine pharmacodynamics pathway  (EXP)
metoprolol pharmacodynamics pathway  (EXP)
mexiletine pharmacodynamics pathway  (EXP)
nadolol pharmacodynamics pathway  (EXP)
nebivolol pharmacodynamics pathway  (EXP)
nifedipine pharmacodynamics pathway  (EXP)
nimodipine pharmacodynamics pathway  (EXP)
nisoldipine pharmacodynamics pathway  (EXP)
nitrendipine pharmacodynamics pathway  (EXP)
penbutolol pharmacodynamics pathway  (EXP)
phenytoin pharmacodynamics pathway  (EXP)
pindolol pharmacodynamics pathway  (EXP)
procainamide pharmacodynamics pathway  (EXP)
propranolol pharmacodynamics pathway  (EXP)
quinidine pharmacodynamics pathway  (EXP)
sotalol pharmacodynamics pathway  (EXP)
timolol pharmacodynamics pathway  (EXP)
verapamil pharmacodynamics pathway  (EXP)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy. Hoffmann B, etal., Hum Mutat. 2001 Jun;17(6):524.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Calcium, troponin, calmodulin, S100 proteins: from myocardial basics to new therapeutic strategies. Schaub MC and Heizmann CW, Biochem Biophys Res Commun. 2008 Apr 25;369(1):247-64. Epub 2007 Oct 25.
Additional References at PubMed
PMID:1907279   PMID:2250022   PMID:2455687   PMID:3166492   PMID:3951483   PMID:7103951   PMID:7957210   PMID:8205619   PMID:8987992   PMID:8995486   PMID:9219516   PMID:9315850  
PMID:9346285   PMID:9448267   PMID:9560191   PMID:10806205   PMID:10850966   PMID:11735257   PMID:11904166   PMID:12044157   PMID:12060657   PMID:12093807   PMID:12122471   PMID:12477932  
PMID:12732641   PMID:12840750   PMID:12939162   PMID:15049709   PMID:15134451   PMID:15147183   PMID:15489334   PMID:15524171   PMID:15542288   PMID:15601779   PMID:15628883   PMID:15808858  
PMID:16157639   PMID:16157641   PMID:16302972   PMID:17021793   PMID:17446435   PMID:17693547   PMID:17977476   PMID:18032382   PMID:18042489   PMID:18063575   PMID:18092822   PMID:18572189  
PMID:18803402   PMID:18820258   PMID:18986304   PMID:19439414   PMID:19492165   PMID:19542563   PMID:19808376   PMID:19920153   PMID:20031618   PMID:20128626   PMID:20215591   PMID:20301486  
PMID:20301725   PMID:20371872   PMID:20378771   PMID:20459070   PMID:20566645   PMID:20889975   PMID:21056975   PMID:21832052   PMID:21873635   PMID:21926972   PMID:21988832   PMID:22329450  
PMID:22489623   PMID:22511780   PMID:22591429   PMID:22675533   PMID:22815480   PMID:23066014   PMID:23111626   PMID:23554884   PMID:23633581   PMID:23974872   PMID:24333682   PMID:24490734  
PMID:24650606   PMID:24744096   PMID:25101951   PMID:25246568   PMID:25277212   PMID:25771144   PMID:25996354   PMID:26111167   PMID:26232335   PMID:26304555   PMID:26341255   PMID:26976709  
PMID:27133568   PMID:27604170   PMID:27713166   PMID:28087371   PMID:28530094   PMID:28533433   PMID:29997244   PMID:30021884   PMID:30554943   PMID:30620548   PMID:32296183   PMID:32638704  
PMID:32946432   PMID:33242510   PMID:33548225   PMID:33592378   PMID:33901537   PMID:33961781   PMID:34502534   PMID:34797443   PMID:38803224   PMID:38871035  


Genomics

Comparative Map Data
TNNC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38352,451,100 - 52,454,041 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl352,451,100 - 52,454,041 (-)EnsemblGRCh38hg38GRCh38
GRCh37352,485,116 - 52,488,057 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36352,460,158 - 52,463,098 (-)NCBINCBI36Build 36hg18NCBI36
Build 34352,460,157 - 52,463,098NCBI
Celera352,464,352 - 52,467,302 (-)NCBICelera
Cytogenetic Map3p21.1NCBI
HuRef352,547,765 - 52,550,715 (-)NCBIHuRef
CHM1_1352,437,484 - 52,440,434 (-)NCBICHM1_1
T2T-CHM13v2.0352,484,001 - 52,486,942 (-)NCBIT2T-CHM13v2.0
Tnnc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391430,930,274 - 30,933,671 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1430,930,269 - 30,933,686 (+)EnsemblGRCm39 Ensembl
GRCm381431,208,312 - 31,211,729 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1431,208,312 - 31,211,729 (+)EnsemblGRCm38mm10GRCm38
MGSCv371432,021,498 - 32,024,897 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361430,037,321 - 30,040,720 (+)NCBIMGSCv36mm8
Celera1427,466,935 - 27,470,320 (+)NCBICelera
Cytogenetic Map14BNCBI
cM Map1419.09NCBI
Tnnc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8166,408,607 - 6,412,070 (+)NCBIGRCr8
mRatBN7.2166,400,801 - 6,405,634 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl166,402,171 - 6,405,634 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx166,414,415 - 6,417,445 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0167,559,640 - 7,562,670 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0166,421,423 - 6,424,453 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0167,292,207 - 7,295,238 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl167,292,096 - 7,295,465 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0167,220,777 - 7,223,730 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4166,639,357 - 6,642,331 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1166,639,312 - 6,642,502 (+)NCBI
Celera168,783,769 - 8,786,737 (-)NCBICelera
Cytogenetic Map16p16NCBI
Tnnc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554302,434,874 - 2,441,596 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554302,438,644 - 2,441,596 (-)NCBIChiLan1.0ChiLan1.0
TNNC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2252,446,169 - 52,449,158 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1352,450,941 - 52,453,930 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0352,393,106 - 52,396,076 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1353,621,749 - 53,624,726 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl353,621,749 - 53,624,726 (-)Ensemblpanpan1.1panPan2
TNNC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12037,313,983 - 37,317,288 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2037,311,966 - 37,317,321 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2037,295,437 - 37,298,748 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02037,664,003 - 37,667,314 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2037,664,083 - 37,667,311 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12037,027,955 - 37,031,266 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02037,436,607 - 37,439,918 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02037,721,202 - 37,724,515 (+)NCBIUU_Cfam_GSD_1.0
Tnnc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118170,152,389 - 170,155,387 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364733,290,913 - 3,294,132 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364733,290,961 - 3,293,920 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNNC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1334,591,386 - 34,594,337 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11334,591,571 - 34,594,320 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21337,805,313 - 37,808,062 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TNNC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12213,816,603 - 13,819,572 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2213,816,222 - 13,819,518 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041153,080,316 - 153,083,290 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnnc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248224,764,742 - 4,770,293 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248224,763,285 - 4,767,810 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNNC1
315 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003280.3(TNNC1):c.393C>A (p.Asp131Glu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000543073] Chr3:52451452 [GRCh38]
Chr3:52485468 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003764652]|Hypertrophic cardiomyopathy 13 [RCV000033053] Chr3:52452217 [GRCh38]
Chr3:52486233 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000013254]|not provided [RCV000523060] Chr3:52451285 [GRCh38]
Chr3:52485301 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln) single nucleotide variant Cardiovascular phenotype [RCV004678596]|Dilated cardiomyopathy 1Z [RCV000702748]|Hypertrophic cardiomyopathy 13 [RCV000013255]|not provided [RCV000998084]|not specified [RCV000215162] Chr3:52452222 [GRCh38]
Chr3:52486238 [GRCh37]
Chr3:3p21.1		 pathogenic|uncertain significance
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val) single nucleotide variant Cardiomyopathy [RCV001582477]|Cardiovascular phenotype [RCV000618084]|Dilated cardiomyopathy 1Z [RCV001034686]|Dilated cardiomyopathy 1Z [RCV003147283]|Hypertrophic cardiomyopathy 13 [RCV000013256]|Hypertrophic cardiomyopathy [RCV000824773]|not provided [RCV000159204]|not specified [RCV000037762] Chr3:52453993 [GRCh38]
Chr3:52488009 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002513004]|Hypertrophic cardiomyopathy 13 [RCV000013257] Chr3:52451810 [GRCh38]
Chr3:52485826 [GRCh37]
Chr3:3p21.1		 pathogenic|uncertain significance
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu) single nucleotide variant Cardiomyopathy [RCV003149570]|Cardiovascular phenotype [RCV000622135]|Dilated cardiomyopathy 1S [RCV000491539]|Dilated cardiomyopathy 1Z [RCV000227883]|Hypertrophic cardiomyopathy 13 [RCV000013258]|not provided [RCV000766925]|not specified [RCV000222787] Chr3:52451410 [GRCh38]
Chr3:52485426 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.186T>A (p.Asp62Glu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000543555] Chr3:52452122 [GRCh38]
Chr3:52486138 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.334A>G (p.Ile112Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001882552]|not provided [RCV001508150] Chr3:52451511 [GRCh38]
Chr3:52485527 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.140T>G (p.Met47Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000577999]|Dilated cardiomyopathy 1Z [RCV000687534]|Hypertrophic cardiomyopathy 13 [RCV000578078] Chr3:52452168 [GRCh38]
Chr3:52486184 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.210C>T (p.Gly70=) single nucleotide variant Cardiomyopathy [RCV001798117]|Cardiovascular phenotype [RCV002415471]|Dilated cardiomyopathy 1Z [RCV000322551]|Dilated cardiomyopathy 1Z [RCV000555960]|Hypertrophic cardiomyopathy 13 [RCV000262457]|not provided [RCV001355522]|not specified [RCV000037761] Chr3:52451851 [GRCh38]
Chr3:52485867 [GRCh37]
Chr3:3p21.1		 benign|likely benign|uncertain significance
NM_003280.3(TNNC1):c.324T>C (p.Ala108=) single nucleotide variant Cardiovascular phenotype [RCV002321511]|Dilated cardiomyopathy 1Z [RCV000865665]|not specified [RCV000037763] Chr3:52451521 [GRCh38]
Chr3:52485537 [GRCh37]
Chr3:3p21.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_003280.3(TNNC1):c.387G>C (p.Thr129=) single nucleotide variant Cardiovascular phenotype [RCV000622106]|Dilated cardiomyopathy 1Z [RCV000316678]|Dilated cardiomyopathy 1Z [RCV000874556]|Hypertrophic cardiomyopathy 13 [RCV000375980]|not provided [RCV001697133]|not specified [RCV000037764] Chr3:52451458 [GRCh38]
Chr3:52485474 [GRCh37]
Chr3:3p21.1		 benign|likely benign|uncertain significance
NM_003280.3(TNNC1):c.394G>A (p.Asp132Asn) single nucleotide variant not specified [RCV000037765] Chr3:52451451 [GRCh38]
Chr3:52485467 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.402G>T (p.Glu134Asp) single nucleotide variant Cardiovascular phenotype [RCV003162327]|Dilated cardiomyopathy 1Z [RCV000704085]|not provided [RCV000766924]|not specified [RCV000037766] Chr3:52451443 [GRCh38]
Chr3:52485459 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.442A>G (p.Ile148Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000457083]|Primary dilated cardiomyopathy [RCV000171845]|not specified [RCV000037767] Chr3:52451403 [GRCh38]
Chr3:52485419 [GRCh37]
Chr3:52460459 [NCBI36]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.445G>A (p.Asp149Asn) single nucleotide variant Cardiovascular phenotype [RCV004018844]|Dilated cardiomyopathy 1Z [RCV001309381]|not provided [RCV000487591]|not specified [RCV000037768] Chr3:52451400 [GRCh38]
Chr3:52485416 [GRCh37]
Chr3:3p21.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_003280.3(TNNC1):c.5A>G (p.Asp2Gly) single nucleotide variant Cardiovascular phenotype [RCV002354193]|Dilated cardiomyopathy 1Z [RCV003764674]|not specified [RCV000037769] Chr3:52454011 [GRCh38]
Chr3:52488027 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1 copy number loss See cases [RCV000051511] Chr3:49461000..55314500 [GRCh38]
Chr3:49498433..55348528 [GRCh37]
Chr3:49473437..55323568 [NCBI36]
Chr3:3p21.31-14.3		 pathogenic
NM_003280.3(TNNC1):c.455-14C>A single nucleotide variant not specified [RCV000125558] Chr3:52451320 [GRCh38]
Chr3:52485336 [GRCh37]
Chr3:3p21.1		 benign
GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1 copy number loss See cases [RCV000143631] Chr3:51394434..55064449 [GRCh38]
Chr3:51431865..55098476 [GRCh37]
Chr3:51406905..55073516 [NCBI36]
Chr3:3p21.2-14.3		 likely pathogenic
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) single nucleotide variant Cardiomyopathy [RCV001171079]|Cardiovascular phenotype [RCV000620402]|Dilated cardiomyopathy 1Z [RCV000377146]|Dilated cardiomyopathy 1Z [RCV000464283]|Hypertrophic cardiomyopathy 13 [RCV000287274]|not provided [RCV001701535]|not specified [RCV000155818] Chr3:52452200 [GRCh38]
Chr3:52486216 [GRCh37]
Chr3:3p21.1		 benign|likely benign|uncertain significance
NM_003280.3(TNNC1):c.480G>A (p.Val160=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001437758]|not specified [RCV000156275] Chr3:52451281 [GRCh38]
Chr3:52485297 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.203-10C>G single nucleotide variant Cardiomyopathy [RCV001171077]|Dilated cardiomyopathy 1Z [RCV001416112]|not specified [RCV000156748] Chr3:52451868 [GRCh38]
Chr3:52485884 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) single nucleotide variant Cardiomyopathy [RCV001171078]|Cardiovascular phenotype [RCV000617484]|Dilated cardiomyopathy 1Z [RCV000230191]|TNNC1-related disorder [RCV003945221]|not provided [RCV001529702]|not specified [RCV000154860] Chr3:52452107 [GRCh38]
Chr3:52486123 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_003280.3(TNNC1):c.97G>A (p.Asp33Asn) single nucleotide variant not specified [RCV000152067] Chr3:52452211 [GRCh38]
Chr3:52486227 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.56-8G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002516061]|not provided [RCV003884362]|not specified [RCV000152068] Chr3:52452260 [GRCh38]
Chr3:52486276 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.74_82del (p.Asp25_Phe27del) deletion not specified [RCV000152069] Chr3:52452226..52452234 [GRCh38]
Chr3:52486242..52486250 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.56-9T>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV005222773]|not specified [RCV000152070] Chr3:52452261 [GRCh38]
Chr3:52486277 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.24+1G>A single nucleotide variant not specified [RCV000152071] Chr3:52453991 [GRCh38]
Chr3:52488007 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-5C>T single nucleotide variant Cardiovascular phenotype [RCV000244110]|Dilated cardiomyopathy 1Z [RCV000205821]|TNNC1-related disorder [RCV003965134]|not provided [RCV001711594]|not specified [RCV000152066] Chr3:52451863 [GRCh38]
Chr3:52485879 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_003280.3(TNNC1):c.469A>T (p.Met157Leu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003764993]|Primary dilated cardiomyopathy [RCV000157529] Chr3:52451292 [GRCh38]
Chr3:52485308 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.26T>G (p.Val9Gly) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000468842]|not provided [RCV000159192] Chr3:52452512 [GRCh38]
Chr3:52486528 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.91G>A (p.Ala31Thr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001306036]|Hypertrophic cardiomyopathy 13 [RCV002283461]|not provided [RCV000159193] Chr3:52452217 [GRCh38]
Chr3:52486233 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003280.3(TNNC1):c.191T>C (p.Val64Ala) single nucleotide variant not provided [RCV000159194] Chr3:52452117 [GRCh38]
Chr3:52486133 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.262G>A (p.Asp88Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000647102]|not provided [RCV000159195] Chr3:52451799 [GRCh38]
Chr3:52485815 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.290T>A (p.Leu97Gln) single nucleotide variant not provided [RCV000159196] Chr3:52451771 [GRCh38]
Chr3:52485787 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_003280.3(TNNC1):c.304C>T (p.Arg102Cys) single nucleotide variant Cardiovascular phenotype [RCV003362702]|Dilated cardiomyopathy 1Z [RCV001247323]|not provided [RCV000159197] Chr3:52451757 [GRCh38]
Chr3:52485773 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.376G>A (p.Glu126Lys) single nucleotide variant Cardiomyopathy [RCV001171075]|Dilated cardiomyopathy 1Z [RCV002516399]|not provided [RCV000159198] Chr3:52451469 [GRCh38]
Chr3:52485485 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.430A>G (p.Asn144Asp) single nucleotide variant Cardiomyopathy [RCV000770185]|Cardiovascular phenotype [RCV002326908]|Dilated cardiomyopathy 1Z [RCV000471611]|Hypertrophic cardiomyopathy 13 [RCV001808432]|Hypertrophic cardiomyopathy [RCV000497492]|TNNC1-related disorder [RCV003952794]|not provided [RCV003236784] Chr3:52451415 [GRCh38]
Chr3:52485431 [GRCh37]
Chr3:3p21.1		 pathogenic|likely pathogenic|likely benign|uncertain significance
NM_003280.3(TNNC1):c.446A>G (p.Asp149Gly) single nucleotide variant not provided [RCV000159201] Chr3:52451399 [GRCh38]
Chr3:52485415 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.469A>C (p.Met157Leu) single nucleotide variant Cardiovascular phenotype [RCV002326909]|Dilated cardiomyopathy 1Z [RCV000797394]|not provided [RCV000159202] Chr3:52451292 [GRCh38]
Chr3:52485308 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.8A>T (p.Asp3Val) single nucleotide variant not provided [RCV000159203] Chr3:52454008 [GRCh38]
Chr3:52488024 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_003280.3(TNNC1):c.73G>A (p.Asp25Asn) single nucleotide variant Cardiomyopathy [RCV000770191]|Dilated cardiomyopathy 1Z [RCV001243941]|Dilated cardiomyopathy 1Z [RCV001329673]|not provided [RCV000159205] Chr3:52452235 [GRCh38]
Chr3:52486251 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.155C>G (p.Pro52Arg) single nucleotide variant Cardiovascular phenotype [RCV002399579]|Dilated cardiomyopathy 1Z [RCV000647106]|not provided [RCV000586385] Chr3:52452153 [GRCh38]
Chr3:52486169 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.336C>T (p.Ile112=) single nucleotide variant Cardiovascular phenotype [RCV004020538]|Dilated cardiomyopathy 1Z [RCV000205112] Chr3:52451509 [GRCh38]
Chr3:52485525 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.189G>T (p.Glu63Asp) single nucleotide variant Cardiovascular phenotype [RCV004020547]|Dilated cardiomyopathy 1Z [RCV000205502] Chr3:52452119 [GRCh38]
Chr3:52486135 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.141G>T (p.Met47Ile) single nucleotide variant not provided [RCV000255337] Chr3:52452167 [GRCh38]
Chr3:52486183 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_003280.3(TNNC1):c.24+13G>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV001853420]|not specified [RCV000217185] Chr3:52453979 [GRCh38]
Chr3:52487995 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.454+6C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV002518211]|not specified [RCV000217419] Chr3:52451385 [GRCh38]
Chr3:52485401 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.435C>T (p.Asp145=) single nucleotide variant Cardiovascular phenotype [RCV002327082]|Dilated cardiomyopathy 1Z [RCV000865662]|not provided [RCV001711996]|not specified [RCV000220842] Chr3:52451410 [GRCh38]
Chr3:52485426 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.431A>G (p.Asn144Ser) single nucleotide variant not specified [RCV000223704] Chr3:52451414 [GRCh38]
Chr3:52485430 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.456G>A (p.Glu152=) single nucleotide variant Cardiomyopathy [RCV001171073]|Dilated cardiomyopathy 1Z [RCV001439369]|not specified [RCV000605728] Chr3:52451305 [GRCh38]
Chr3:52485321 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.161C>A (p.Pro54His) single nucleotide variant not provided [RCV000483835]|not specified [RCV000223755] Chr3:52452147 [GRCh38]
Chr3:52486163 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.72C>T (p.Phe24=) single nucleotide variant Cardiovascular phenotype [RCV003165629]|Dilated cardiomyopathy 1Z [RCV000232911]|not provided [RCV004710604] Chr3:52452236 [GRCh38]
Chr3:52486252 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1 copy number loss See cases [RCV000239886] Chr3:52086599..59689209 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_003280.3(TNNC1):c.*83A>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV000315130]|Hypertrophic cardiomyopathy 13 [RCV000273930]|not provided [RCV001534763] Chr3:52451192 [GRCh38]
Chr3:52485208 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_003280.3(TNNC1):c.55+9C>A single nucleotide variant Cardiomyopathy [RCV001798795]|Dilated cardiomyopathy 1Z [RCV000287461]|Dilated cardiomyopathy 1Z [RCV000647108]|Hypertrophic cardiomyopathy 13 [RCV000347208] Chr3:52452474 [GRCh38]
Chr3:52486490 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.81C>T (p.Phe27=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000381930]|Dilated cardiomyopathy 1Z [RCV001398310]|Hypertrophic cardiomyopathy 13 [RCV000342320]|not provided [RCV001539058] Chr3:52452227 [GRCh38]
Chr3:52486243 [GRCh37]
Chr3:3p21.1		 benign|likely benign|uncertain significance
NM_003280.3(TNNC1):c.*127C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV000368591]|Hypertrophic cardiomyopathy 13 [RCV000309339]|not provided [RCV001598659] Chr3:52451148 [GRCh38]
Chr3:52485164 [GRCh37]
Chr3:3p21.1		 benign|uncertain significance
NM_003280.3(TNNC1):c.*75G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV000261404]|Dilated cardiomyopathy 1Z [RCV002487522]|Hypertrophic cardiomyopathy 13 [RCV000369765] Chr3:52451200 [GRCh38]
Chr3:52485216 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.242T>C (p.Met81Thr) single nucleotide variant Cardiovascular phenotype [RCV002446514]|Dilated cardiomyopathy 1Z [RCV001855084]|not provided [RCV000389539] Chr3:52451819 [GRCh38]
Chr3:52485835 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.280G>C (p.Glu94Gln) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001851310]|not provided [RCV000489474] Chr3:52451781 [GRCh38]
Chr3:52485797 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.262G>T (p.Asp88Tyr) single nucleotide variant not provided [RCV000523663] Chr3:52451799 [GRCh38]
Chr3:52485815 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.4G>A (p.Asp2Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000398459]|Hypertrophic cardiomyopathy 13 [RCV000312255] Chr3:52454012 [GRCh38]
Chr3:52488028 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.387G>A (p.Thr129=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000530615] Chr3:52451458 [GRCh38]
Chr3:52485474 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.24+10A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV001405914]|not provided [RCV000587774] Chr3:52453982 [GRCh38]
Chr3:52487998 [GRCh37]
Chr3:3p21.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003280.3(TNNC1):c.427AAC[1] (p.Asn144del) microsatellite Dilated cardiomyopathy 1Z [RCV000647103]|not specified [RCV000599200] Chr3:52451413..52451415 [GRCh38]
Chr3:52485429..52485431 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.305G>T (p.Arg102Leu) single nucleotide variant Cardiomyopathy [RCV001798908]|Dilated cardiomyopathy 1Z [RCV001239466]|not provided [RCV000589132] Chr3:52451756 [GRCh38]
Chr3:52485772 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.400G>A (p.Glu134Lys) single nucleotide variant Cardiovascular phenotype [RCV002358553]|Dilated cardiomyopathy 1Z [RCV000560323]|TNNC1-related disorder [RCV003392398]|not provided [RCV000788619] Chr3:52451445 [GRCh38]
Chr3:52485461 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.473A>C (p.Lys158Thr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000536334] Chr3:52451288 [GRCh38]
Chr3:52485304 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.153C>A (p.Asn51Lys) single nucleotide variant not specified [RCV000413622] Chr3:52452155 [GRCh38]
Chr3:52486171 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.90C>T (p.Gly30=) single nucleotide variant Cardiomyopathy [RCV000770190]|Cardiovascular phenotype [RCV003168662]|Dilated cardiomyopathy 1Z [RCV000457424]|not specified [RCV000424149] Chr3:52452218 [GRCh38]
Chr3:52486234 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.317+9G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV000864540]|TNNC1-related disorder [RCV003942331]|not specified [RCV000419197] Chr3:52451735 [GRCh38]
Chr3:52485751 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_003280.3(TNNC1):c.102C>A (p.Gly34=) single nucleotide variant Cardiovascular phenotype [RCV002379351]|Dilated cardiomyopathy 1Z [RCV001451126]|not specified [RCV000443294] Chr3:52452206 [GRCh38]
Chr3:52486222 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.183C>T (p.Ile61=) single nucleotide variant Cardiovascular phenotype [RCV003168653]|Dilated cardiomyopathy 1Z [RCV001456794]|not provided [RCV001703803] Chr3:52452125 [GRCh38]
Chr3:52486141 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.24+6G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV001861523]|not specified [RCV000436608] Chr3:52453986 [GRCh38]
Chr3:52488002 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.207C>T (p.Ser69=) single nucleotide variant Cardiovascular phenotype [RCV002418253]|Dilated cardiomyopathy 1Z [RCV001463471]|not specified [RCV000440349] Chr3:52451854 [GRCh38]
Chr3:52485870 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_003280.3(TNNC1):c.393C>T (p.Asp131=) single nucleotide variant Cardiomyopathy [RCV001171074]|Cardiovascular phenotype [RCV002374658]|Dilated cardiomyopathy 1Z [RCV000870395]|not provided [RCV001703778] Chr3:52451452 [GRCh38]
Chr3:52485468 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.454+7G>A single nucleotide variant Cardiomyopathy [RCV001798851]|Dilated cardiomyopathy 1Z [RCV001470067] Chr3:52451384 [GRCh38]
Chr3:52485400 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.213G>A (p.Thr71=) single nucleotide variant Cardiovascular phenotype [RCV003298534]|Dilated cardiomyopathy 1Z [RCV000474177] Chr3:52451848 [GRCh38]
Chr3:52485864 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.207C>G (p.Ser69Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000470675] Chr3:52451854 [GRCh38]
Chr3:52485870 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.452A>T (p.Asp151Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000463709] Chr3:52451393 [GRCh38]
Chr3:52485409 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.348G>T (p.Glu116Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000475315] Chr3:52451497 [GRCh38]
Chr3:52485513 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.24+9C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV000457505] Chr3:52453983 [GRCh38]
Chr3:52487999 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.175dup (p.Glu59fs) duplication Dilated cardiomyopathy 1Z [RCV000461894] Chr3:52452132..52452133 [GRCh38]
Chr3:52486148..52486149 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.433G>A (p.Asp145Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000462298]|Dilated cardiomyopathy 1Z [RCV003992299]|not provided [RCV002223849] Chr3:52451412 [GRCh38]
Chr3:52485428 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.184G>A (p.Asp62Asn) single nucleotide variant Cardiovascular phenotype [RCV002411133]|Dilated cardiomyopathy 1S [RCV000491866]|Dilated cardiomyopathy 1Z [RCV001039174]|not provided [RCV001578154] Chr3:52452124 [GRCh38]
Chr3:52486140 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-16T>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV003767494]|not specified [RCV000606325] Chr3:52451874 [GRCh38]
Chr3:52485890 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.383T>C (p.Ile128Thr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000647105] Chr3:52451462 [GRCh38]
Chr3:52485478 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.288G>A (p.Glu96=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003767605]|not specified [RCV000606911] Chr3:52451773 [GRCh38]
Chr3:52485789 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.454+6C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV001040997]|not specified [RCV000607357] Chr3:52451385 [GRCh38]
Chr3:52485401 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_003280.3(TNNC1):c.386C>T (p.Thr129Met) single nucleotide variant Cardiovascular phenotype [RCV000620132]|Dilated cardiomyopathy 1Z [RCV001301821]|not provided [RCV001756003] Chr3:52451459 [GRCh38]
Chr3:52485475 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.94G>A (p.Glu32Lys) single nucleotide variant Cardiovascular phenotype [RCV003162940]|Dilated cardiomyopathy 1Z [RCV000647104] Chr3:52452214 [GRCh38]
Chr3:52486230 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.195C>T (p.Asp65=) single nucleotide variant Cardiovascular phenotype [RCV003162941]|Dilated cardiomyopathy 1Z [RCV000647109]|not provided [RCV001700286] Chr3:52452113 [GRCh38]
Chr3:52486129 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.157A>G (p.Thr53Ala) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000647107]|not provided [RCV001579329]|not specified [RCV000825474] Chr3:52452151 [GRCh38]
Chr3:52486167 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.68C>A (p.Ala23Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000685102] Chr3:52452240 [GRCh38]
Chr3:52486256 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.391GAC[1] (p.Asp132del) microsatellite Dilated cardiomyopathy 1Z [RCV000689887] Chr3:52451449..52451451 [GRCh38]
Chr3:52485465..52485467 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.337G>A (p.Asp113Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000687634]|not provided [RCV001584556] Chr3:52451508 [GRCh38]
Chr3:52485524 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.318-6C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV000693974] Chr3:52451533 [GRCh38]
Chr3:52485549 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-9C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV000703846] Chr3:52451867 [GRCh38]
Chr3:52485883 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.355A>G (p.Ile119Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000704614] Chr3:52451490 [GRCh38]
Chr3:52485506 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.328G>T (p.Gly110Cys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000702701] Chr3:52451517 [GRCh38]
Chr3:52485533 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_003280.3(TNNC1):c.12C>G (p.Ile4Met) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003315472] Chr3:52454004 [GRCh38]
Chr3:52488020 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_003280.3(TNNC1):c.100G>C (p.Gly34Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003315276] Chr3:52452208 [GRCh38]
Chr3:52486224 [GRCh37]
Chr3:3p21.1		 pathogenic
NC_000003.12:g.52454150C>T single nucleotide variant not provided [RCV001552207] Chr3:52454150 [GRCh38]
Chr3:52488166 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.354G>A (p.Lys118=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001418886] Chr3:52451491 [GRCh38]
Chr3:52485507 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.317+8C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV000867924]|not provided [RCV001712816] Chr3:52451736 [GRCh38]
Chr3:52485752 [GRCh37]
Chr3:3p21.1		 benign|likely benign
NM_003280.3(TNNC1):c.213G>C (p.Thr71=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001149384]|Dilated cardiomyopathy 1Z [RCV001493883]|Hypertrophic cardiomyopathy 13 [RCV001149385]|not provided [RCV000871183] Chr3:52451848 [GRCh38]
Chr3:52485864 [GRCh37]
Chr3:3p21.1		 benign|likely benign|uncertain significance
NM_003280.3(TNNC1):c.372A>G (p.Thr124=) single nucleotide variant Cardiovascular phenotype [RCV004678883]|Dilated cardiomyopathy 1Z [RCV001474260] Chr3:52451473 [GRCh38]
Chr3:52485489 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.426G>C (p.Lys142Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001051491] Chr3:52451419 [GRCh38]
Chr3:52485435 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.216G>A (p.Val72=) single nucleotide variant Cardiomyopathy [RCV000770188]|Cardiovascular phenotype [RCV002424762]|Dilated cardiomyopathy 1Z [RCV001484149]|TNNC1-related disorder [RCV003918258] Chr3:52451845 [GRCh38]
Chr3:52485861 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.202+9C>T single nucleotide variant Cardiomyopathy [RCV000770189] Chr3:52452097 [GRCh38]
Chr3:52486113 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.202+10C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV000939234] Chr3:52452096 [GRCh38]
Chr3:52486112 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.384C>T (p.Ile128=) single nucleotide variant Cardiomyopathy [RCV001799017]|Dilated cardiomyopathy 1Z [RCV001433739] Chr3:52451461 [GRCh38]
Chr3:52485477 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.90C>G (p.Gly30=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001443582] Chr3:52452218 [GRCh38]
Chr3:52486234 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.444C>T (p.Ile148=) single nucleotide variant Cardiovascular phenotype [RCV002332803]|Dilated cardiomyopathy 1Z [RCV000868238]|Dilated cardiomyopathy 1Z [RCV001149383]|Hypertrophic cardiomyopathy 13 [RCV001149382] Chr3:52451401 [GRCh38]
Chr3:52485417 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.417C>T (p.Asp139=) single nucleotide variant Cardiomyopathy [RCV000770186]|Cardiovascular phenotype [RCV002332548]|Dilated cardiomyopathy 1Z [RCV002067215] Chr3:52451428 [GRCh38]
Chr3:52485444 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.317+8C>A single nucleotide variant Cardiomyopathy [RCV000770187] Chr3:52451736 [GRCh38]
Chr3:52485752 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616) copy number gain not provided [RCV000767704] Chr3:45153770..53878616 [GRCh37]
Chr3:3p21.31-21.1		 pathogenic
NM_003280.3(TNNC1):c.397A>G (p.Ile133Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000793080] Chr3:52451448 [GRCh38]
Chr3:52485464 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.105C>T (p.Cys35=) single nucleotide variant Cardiovascular phenotype [RCV002399848]|Dilated cardiomyopathy 1Z [RCV001417879]|not provided [RCV000840294] Chr3:52452203 [GRCh38]
Chr3:52486219 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.2(TNNC1):c.-171G>A single nucleotide variant not provided [RCV000831161] Chr3:52454186 [GRCh38]
Chr3:52488202 [GRCh37]
Chr3:3p21.1		 benign
NM_003280.3(TNNC1):c.55+5G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV000803900] Chr3:52452478 [GRCh38]
Chr3:52486494 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.356T>C (p.Ile119Thr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001066490] Chr3:52451489 [GRCh38]
Chr3:52485505 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.454+6dup duplication Dilated cardiomyopathy 1Z [RCV001405867] Chr3:52451384..52451385 [GRCh38]
Chr3:52485400..52485401 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.271G>A (p.Gly91Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV000802210] Chr3:52451790 [GRCh38]
Chr3:52485806 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.419G>A (p.Gly140Glu) single nucleotide variant Cardiovascular phenotype [RCV002332603]|Dilated cardiomyopathy 1Z [RCV000796775] Chr3:52451426 [GRCh38]
Chr3:52485442 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.15C>T (p.Tyr5=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005228053] Chr3:52454001 [GRCh38]
Chr3:52488017 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-21.1(chr3:52195134-52869037)x1 copy number loss not provided [RCV000848455] Chr3:52195134..52869037 [GRCh37]
Chr3:3p21.2-21.1		 pathogenic
NM_003280.3(TNNC1):c.455-6C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV001219300]|not provided [RCV001587240] Chr3:52451312 [GRCh38]
Chr3:52485328 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.25G>A (p.Val9Ile) single nucleotide variant Cardiovascular phenotype [RCV002427090]|Dilated cardiomyopathy 1Z [RCV002538870]|Primary dilated cardiomyopathy [RCV000853119] Chr3:52452513 [GRCh38]
Chr3:52486529 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.*123G>A single nucleotide variant not provided [RCV001621237] Chr3:52451152 [GRCh38]
Chr3:52485168 [GRCh37]
Chr3:3p21.1		 benign
NM_003280.3(TNNC1):c.317+6C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV001866208]|not specified [RCV001582379] Chr3:52451738 [GRCh38]
Chr3:52485754 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.317+1G>A single nucleotide variant not provided [RCV001723429] Chr3:52451743 [GRCh38]
Chr3:52485759 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_003280.3(TNNC1):c.248G>A (p.Arg83Gln) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001868389]|not provided [RCV001699897] Chr3:52451813 [GRCh38]
Chr3:52485829 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.291G>A (p.Leu97=) single nucleotide variant not provided [RCV001552810] Chr3:52451770 [GRCh38]
Chr3:52485786 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.440G>A (p.Arg147His) single nucleotide variant Cardiovascular phenotype [RCV002327524]|Dilated cardiomyopathy 1Z [RCV001221375] Chr3:52451405 [GRCh38]
Chr3:52485421 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.202+6C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV001243711] Chr3:52452100 [GRCh38]
Chr3:52486116 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.46C>G (p.Gln16Glu) single nucleotide variant not provided [RCV004812706] Chr3:52452492 [GRCh38]
Chr3:52486508 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.475G>A (p.Gly159Ser) single nucleotide variant not specified [RCV004799903] Chr3:52451286 [GRCh38]
Chr3:52485302 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.2-21.1(chr3:51247306-53069942)x3 copy number gain not provided [RCV001005434] Chr3:51247306..53069942 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NC_000003.12:g.52451089G>C single nucleotide variant not provided [RCV001715114] Chr3:52451089 [GRCh38]
Chr3:52485105 [GRCh37]
Chr3:3p21.1		 benign
NM_003280.3(TNNC1):c.439C>T (p.Arg147Cys) single nucleotide variant Cardiomyopathy [RCV001799119]|Dilated cardiomyopathy 1Z [RCV005225452]|not provided [RCV001699995] Chr3:52451406 [GRCh38]
Chr3:52485422 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.*77G>T single nucleotide variant not provided [RCV001714172] Chr3:52451198 [GRCh38]
Chr3:52485214 [GRCh37]
Chr3:3p21.1		 benign
NC_000003.12:g.(?_52451265)_(52454025_?)dup duplication Dilated cardiomyopathy 1Z [RCV001033519] Chr3:52485281..52488041 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.304C>A (p.Arg102Ser) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001217203] Chr3:52451757 [GRCh38]
Chr3:52485773 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.418G>A (p.Gly140Arg) single nucleotide variant Cardiovascular phenotype [RCV002327565]|Dilated cardiomyopathy 1Z [RCV001234525] Chr3:52451427 [GRCh38]
Chr3:52485443 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.276A>G (p.Lys92=) single nucleotide variant Cardiomyopathy [RCV001171076] Chr3:52451785 [GRCh38]
Chr3:52485801 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.189G>C (p.Glu63Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001209080] Chr3:52452119 [GRCh38]
Chr3:52486135 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.155C>T (p.Pro52Leu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001052549] Chr3:52452153 [GRCh38]
Chr3:52486169 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.2-21.1(chr3:51975459-52561678)x4 copy number gain not provided [RCV001259685] Chr3:51975459..52561678 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_003280.3(TNNC1):c.196G>A (p.Glu66Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001324642] Chr3:52452112 [GRCh38]
Chr3:52486128 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.186T>G (p.Asp62Glu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001313693] Chr3:52452122 [GRCh38]
Chr3:52486138 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.180G>A (p.Met60Ile) single nucleotide variant Cardiovascular phenotype [RCV002412011]|Dilated cardiomyopathy 1Z [RCV001315280]|not provided [RCV001751605] Chr3:52452128 [GRCh38]
Chr3:52486144 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.7G>A (p.Asp3Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001372143] Chr3:52454009 [GRCh38]
Chr3:52488025 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.221T>G (p.Phe74Cys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001313770]|not provided [RCV002223299] Chr3:52451840 [GRCh38]
Chr3:52485856 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.30G>A (p.Glu10=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003789064] Chr3:52452508 [GRCh38]
Chr3:52486524 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.195C>G (p.Asp65Glu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001352246] Chr3:52452113 [GRCh38]
Chr3:52486129 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.130G>A (p.Val44Met) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002546259]|Hypertrophic cardiomyopathy [RCV001328482] Chr3:52452178 [GRCh38]
Chr3:52486194 [GRCh37]
Chr3:3p21.1		 likely pathogenic|uncertain significance
NM_003280.3(TNNC1):c.202+5G>C single nucleotide variant Cardiovascular phenotype [RCV002420792]|Dilated cardiomyopathy 1Z [RCV001362035]|TNNC1-related disorder [RCV003394002]|not provided [RCV001528564] Chr3:52452101 [GRCh38]
Chr3:52486117 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.17A>G (p.Lys6Arg) single nucleotide variant Cardiovascular phenotype [RCV002413865]|Dilated cardiomyopathy 1Z [RCV001364666] Chr3:52453999 [GRCh38]
Chr3:52488015 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.208G>A (p.Gly70Ser) single nucleotide variant Cardiovascular phenotype [RCV002418902]|Dilated cardiomyopathy 1Z [RCV001299003]|not provided [RCV002246289] Chr3:52451853 [GRCh38]
Chr3:52485869 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.318-26_318-1dup duplication Dilated cardiomyopathy 1Z [RCV001371733] Chr3:52451527..52451528 [GRCh38]
Chr3:52485543..52485544 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.125G>A (p.Gly42Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001314095] Chr3:52452183 [GRCh38]
Chr3:52486199 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.305G>A (p.Arg102His) single nucleotide variant Cardiovascular phenotype [RCV002447459]|Dilated cardiomyopathy 1Z [RCV001361884] Chr3:52451756 [GRCh38]
Chr3:52485772 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.341T>G (p.Leu114Arg) single nucleotide variant Cardiovascular phenotype [RCV002456587]|Dilated cardiomyopathy 1Z [RCV001372994] Chr3:52451504 [GRCh38]
Chr3:52485520 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.404A>C (p.Glu135Ala) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001325000] Chr3:52451441 [GRCh38]
Chr3:52485457 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.50A>C (p.Lys17Thr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001362489] Chr3:52452488 [GRCh38]
Chr3:52486504 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.212C>T (p.Thr71Met) single nucleotide variant Cardiovascular phenotype [RCV002418873]|Dilated cardiomyopathy 1Z [RCV004799622] Chr3:52451849 [GRCh38]
Chr3:52485865 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.336C>G (p.Ile112Met) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001351252] Chr3:52451509 [GRCh38]
Chr3:52485525 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.25-9C>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV001314259] Chr3:52452522 [GRCh38]
Chr3:52486538 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.93T>C (p.Ala31=) single nucleotide variant Cardiovascular phenotype [RCV002377752]|Dilated cardiomyopathy 1Z [RCV001454090] Chr3:52452215 [GRCh38]
Chr3:52486231 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.162T>C (p.Pro54=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001484954] Chr3:52452146 [GRCh38]
Chr3:52486162 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.111C>T (p.Ser37=) single nucleotide variant not provided [RCV001529956] Chr3:52452197 [GRCh38]
Chr3:52486213 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+10C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV001444820] Chr3:52452096 [GRCh38]
Chr3:52486112 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.291G>C (p.Leu97=) single nucleotide variant Cardiovascular phenotype [RCV004995772]|Dilated cardiomyopathy 1Z [RCV001411144] Chr3:52451770 [GRCh38]
Chr3:52485786 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.168G>C (p.Glu56Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001377540] Chr3:52452140 [GRCh38]
Chr3:52486156 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_003280.3(TNNC1):c.455-5C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV001499084] Chr3:52451311 [GRCh38]
Chr3:52485327 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.432C>T (p.Asn144=) single nucleotide variant Cardiovascular phenotype [RCV002329714]|Dilated cardiomyopathy 1Z [RCV002073328]|TNNC1-related disorder [RCV003900849]|not provided [RCV001715111] Chr3:52451413 [GRCh38]
Chr3:52485429 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.144G>T (p.Leu48=) single nucleotide variant not provided [RCV001727955]|not specified [RCV001700567] Chr3:52452164 [GRCh38]
Chr3:52486180 [GRCh37]
Chr3:3p21.1		 benign|likely benign|uncertain significance
NM_003280.3(TNNC1):c.483G>A (p.Glu161=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001502485] Chr3:52451278 [GRCh38]
Chr3:52485294 [GRCh37]
Chr3:3p21.1		 likely benign
NC_000003.11:g.(?_52018081)_(53845433_?)del deletion not provided [RCV003105312] Chr3:52018081..53845433 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_003280.3(TNNC1):c.11T>C (p.Ile4Thr) single nucleotide variant not provided [RCV001756494] Chr3:52454005 [GRCh38]
Chr3:52488021 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.454G>A (p.Glu152Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002250827] Chr3:52451391 [GRCh38]
Chr3:52485407 [GRCh37]
Chr3:3p21.1		 pathogenic
NM_003280.3(TNNC1):c.*8C>T single nucleotide variant TNNC1-related disorder [RCV003956357]|not provided [RCV001757071] Chr3:52451267 [GRCh38]
Chr3:52485283 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.433G>C (p.Asp145His) single nucleotide variant Cardiomyopathy [RCV001799299]|Dilated cardiomyopathy 1Z [RCV005213599] Chr3:52451412 [GRCh38]
Chr3:52485428 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.277T>C (p.Ser93Pro) single nucleotide variant not provided [RCV001767409] Chr3:52451784 [GRCh38]
Chr3:52485800 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV004798657] Chr3:52453996 [GRCh38]
Chr3:52488012 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.202+20G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002001855] Chr3:52452086 [GRCh38]
Chr3:52486102 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.309G>A (p.Met103Ile) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002025566]|Dilated cardiomyopathy 1Z [RCV003316860] Chr3:52451752 [GRCh38]
Chr3:52485768 [GRCh37]
Chr3:3p21.1		 pathogenic|uncertain significance
NM_003280.3(TNNC1):c.18G>A (p.Lys6=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001871009] Chr3:52453998 [GRCh38]
Chr3:52488014 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.285G>T (p.Glu95Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002003364]|not specified [RCV003331257] Chr3:52451776 [GRCh38]
Chr3:52485792 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.354G>T (p.Lys118Asn) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001945755] Chr3:52451491 [GRCh38]
Chr3:52485507 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.307A>C (p.Met103Leu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002022349] Chr3:52451754 [GRCh38]
Chr3:52485770 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.14A>G (p.Tyr5Cys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001891689] Chr3:52454002 [GRCh38]
Chr3:52488018 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.298C>T (p.Leu100Phe) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002038528] Chr3:52451763 [GRCh38]
Chr3:52485779 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.202+4A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV002017857] Chr3:52452102 [GRCh38]
Chr3:52486118 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.436G>A (p.Gly146Ser) single nucleotide variant Cardiovascular phenotype [RCV002331620]|Dilated cardiomyopathy 1Z [RCV002017895] Chr3:52451409 [GRCh38]
Chr3:52485425 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.265A>G (p.Ser89Gly) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002047369] Chr3:52451796 [GRCh38]
Chr3:52485812 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.362_364delinsCTT (p.Leu121_Gln122delinsProTer) indel Dilated cardiomyopathy 1Z [RCV001974017] Chr3:52451481..52451483 [GRCh38]
Chr3:52485497..52485499 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.318-9T>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002014519] Chr3:52451536 [GRCh38]
Chr3:52485552 [GRCh37]
Chr3:3p21.1		 likely benign|uncertain significance
NM_003280.3(TNNC1):c.363dup (p.Gln122fs) duplication Dilated cardiomyopathy 1Z [RCV001901595] Chr3:52451481..52451482 [GRCh38]
Chr3:52485497..52485498 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.470T>G (p.Met157Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001877200] Chr3:52451291 [GRCh38]
Chr3:52485307 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.202G>A (p.Gly68Ser) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002011291] Chr3:52452106 [GRCh38]
Chr3:52486122 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.24+2T>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV001925474] Chr3:52453990 [GRCh38]
Chr3:52488006 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.247C>T (p.Arg83Trp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001989438] Chr3:52451814 [GRCh38]
Chr3:52485830 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.23C>G (p.Ala8Gly) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002014274] Chr3:52453993 [GRCh38]
Chr3:52488009 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.473A>G (p.Lys158Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV001953135] Chr3:52451288 [GRCh38]
Chr3:52485304 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.454+3A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV001989425] Chr3:52451388 [GRCh38]
Chr3:52485404 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.24+18G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002188706] Chr3:52453974 [GRCh38]
Chr3:52487990 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.270A>G (p.Lys90=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002188149] Chr3:52451791 [GRCh38]
Chr3:52485807 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+19A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV002111313] Chr3:52452087 [GRCh38]
Chr3:52486103 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.313G>C (p.Asp105His) single nucleotide variant not provided [RCV002224620] Chr3:52451748 [GRCh38]
Chr3:52485764 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.455-19C>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002106501] Chr3:52451325 [GRCh38]
Chr3:52485341 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.243G>C (p.Met81Ile) single nucleotide variant Cardiovascular phenotype [RCV002454590]|Dilated cardiomyopathy 1Z [RCV003101260]|not provided [RCV002223414] Chr3:52451818 [GRCh38]
Chr3:52485834 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.9C>T (p.Asp3=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002089700] Chr3:52454007 [GRCh38]
Chr3:52488023 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.456G>C (p.Glu152Asp) single nucleotide variant Cardiovascular phenotype [RCV003164312]|not provided [RCV002224180] Chr3:52451305 [GRCh38]
Chr3:52485321 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.56-16del deletion Dilated cardiomyopathy 1Z [RCV002078267] Chr3:52452268 [GRCh38]
Chr3:52486284 [GRCh37]
Chr3:3p21.1		 benign
NM_003280.3(TNNC1):c.454+17G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002095119]|not provided [RCV003738138] Chr3:52451374 [GRCh38]
Chr3:52485390 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.327T>C (p.Asp109=) single nucleotide variant Cardiovascular phenotype [RCV002443139]|Dilated cardiomyopathy 1Z [RCV002215004] Chr3:52451518 [GRCh38]
Chr3:52485534 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.222T>C (p.Phe74=) single nucleotide variant Cardiovascular phenotype [RCV002423343]|Dilated cardiomyopathy 1Z [RCV002085799] Chr3:52451839 [GRCh38]
Chr3:52485855 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+13C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV002194669] Chr3:52452093 [GRCh38]
Chr3:52486109 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.203-8A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV002133340] Chr3:52451866 [GRCh38]
Chr3:52485882 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.219C>T (p.Asp73=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002193415] Chr3:52451842 [GRCh38]
Chr3:52485858 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.55+17C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV002141807] Chr3:52452466 [GRCh38]
Chr3:52486482 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.45G>A (p.Glu15=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002178408] Chr3:52452493 [GRCh38]
Chr3:52486509 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.375C>A (p.Gly125=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002182740] Chr3:52451470 [GRCh38]
Chr3:52485486 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.317+18G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002154719] Chr3:52451726 [GRCh38]
Chr3:52485742 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.25-19G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002219324] Chr3:52452532 [GRCh38]
Chr3:52486548 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.169C>T (p.Leu57=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002200014] Chr3:52452139 [GRCh38]
Chr3:52486155 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.474G>A (p.Lys158=) single nucleotide variant Cardiovascular phenotype [RCV002337372]|Dilated cardiomyopathy 1Z [RCV002141292] Chr3:52451287 [GRCh38]
Chr3:52485303 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+12C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV002098983] Chr3:52452094 [GRCh38]
Chr3:52486110 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.261C>T (p.Asp87=) single nucleotide variant Cardiovascular phenotype [RCV004046362]|Dilated cardiomyopathy 1Z [RCV002162756] Chr3:52451800 [GRCh38]
Chr3:52485816 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.455-18C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV002100945] Chr3:52451324 [GRCh38]
Chr3:52485340 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.396C>T (p.Asp132=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003110483] Chr3:52451449 [GRCh38]
Chr3:52485465 [GRCh37]
Chr3:3p21.1		 likely benign
NC_000003.11:g.(?_52485283)_(52485425_?)del deletion Dilated cardiomyopathy 1Z [RCV003113248] Chr3:52485283..52485425 [GRCh37]
Chr3:3p21.1		 uncertain significance
NC_000003.11:g.(?_52109903)_(53164416_?)del deletion RFT1-congenital disorder of glycosylation [RCV003122979] Chr3:52109903..53164416 [GRCh37]
Chr3:3p21.2-21.1		 uncertain significance
NM_003280.3(TNNC1):c.109A>G (p.Ser37Gly) single nucleotide variant not provided [RCV003129367] Chr3:52452199 [GRCh38]
Chr3:52486215 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.363G>T (p.Leu121=) single nucleotide variant Cardiovascular phenotype [RCV002452424]|Dilated cardiomyopathy 1Z [RCV003775687] Chr3:52451482 [GRCh38]
Chr3:52485498 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.454+16G>A single nucleotide variant not specified [RCV003236523] Chr3:52451375 [GRCh38]
Chr3:52485391 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.436G>C (p.Gly146Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002297130] Chr3:52451409 [GRCh38]
Chr3:52485425 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.375C>T (p.Gly125=) single nucleotide variant Cardiovascular phenotype [RCV002349351]|Dilated cardiomyopathy 1Z [RCV003102436] Chr3:52451470 [GRCh38]
Chr3:52485486 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.469A>G (p.Met157Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002466821] Chr3:52451292 [GRCh38]
Chr3:52485308 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.416A>C (p.Asp139Ala) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002304061] Chr3:52451429 [GRCh38]
Chr3:52485445 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.241A>T (p.Met81Leu) single nucleotide variant Cardiovascular phenotype [RCV002450387]|Dilated cardiomyopathy 1Z [RCV003775240] Chr3:52451820 [GRCh38]
Chr3:52485836 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.436G>T (p.Gly146Cys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002295463] Chr3:52451409 [GRCh38]
Chr3:52485425 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.123G>T (p.Leu41=) single nucleotide variant Cardiovascular phenotype [RCV002382609] Chr3:52452185 [GRCh38]
Chr3:52486201 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.183C>G (p.Ile61Met) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002295721] Chr3:52452125 [GRCh38]
Chr3:52486141 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.116A>G (p.Lys39Arg) single nucleotide variant Cardiovascular phenotype [RCV002329852]|Dilated cardiomyopathy 1Z [RCV003775845] Chr3:52452192 [GRCh38]
Chr3:52486208 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.444C>A (p.Ile148=) single nucleotide variant Cardiovascular phenotype [RCV002328321]|Dilated cardiomyopathy 1Z [RCV003094709] Chr3:52451401 [GRCh38]
Chr3:52485417 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.8A>G (p.Asp3Gly) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002295165] Chr3:52454008 [GRCh38]
Chr3:52488024 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.158C>A (p.Thr53Asn) single nucleotide variant Cardiovascular phenotype [RCV002398394] Chr3:52452150 [GRCh38]
Chr3:52486166 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.65C>T (p.Ala22Val) single nucleotide variant Cardiovascular phenotype [RCV002364560]|Dilated cardiomyopathy 1Z [RCV003776285] Chr3:52452243 [GRCh38]
Chr3:52486259 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.53A>C (p.Asn18Thr) single nucleotide variant Cardiovascular phenotype [RCV002347247] Chr3:52452485 [GRCh38]
Chr3:52486501 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.402G>A (p.Glu134=) single nucleotide variant Cardiovascular phenotype [RCV002359547] Chr3:52451443 [GRCh38]
Chr3:52485459 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.321T>G (p.Asn107Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002294802] Chr3:52451524 [GRCh38]
Chr3:52485540 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.424_425del (p.Lys142fs) deletion Cardiovascular phenotype [RCV002328205] Chr3:52451420..52451421 [GRCh38]
Chr3:52485436..52485437 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.175G>A (p.Glu59Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002299277] Chr3:52452133 [GRCh38]
Chr3:52486149 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.370A>C (p.Thr124Pro) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002302013] Chr3:52451475 [GRCh38]
Chr3:52485491 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.171G>A (p.Leu57=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003014702] Chr3:52452137 [GRCh38]
Chr3:52486153 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+8C>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002880615] Chr3:52452098 [GRCh38]
Chr3:52486114 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.339C>A (p.Asp113Glu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002914431] Chr3:52451506 [GRCh38]
Chr3:52485522 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.454+15G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV002636626] Chr3:52451376 [GRCh38]
Chr3:52485392 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.56-14A>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV003081710] Chr3:52452266 [GRCh38]
Chr3:52486282 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.322_338del (p.Ala108fs) deletion Dilated cardiomyopathy 1Z [RCV002825462] Chr3:52451507..52451523 [GRCh38]
Chr3:52485523..52485539 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.65C>A (p.Ala22Glu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003019136] Chr3:52452243 [GRCh38]
Chr3:52486259 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.314A>G (p.Asp105Gly) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003037620] Chr3:52451747 [GRCh38]
Chr3:52485763 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.121C>A (p.Leu41Met) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002820170] Chr3:52452187 [GRCh38]
Chr3:52486203 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.257A>C (p.Lys86Thr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003043603] Chr3:52451804 [GRCh38]
Chr3:52485820 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-17A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV003056524] Chr3:52451875 [GRCh38]
Chr3:52485891 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+2T>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV002625657] Chr3:52452104 [GRCh38]
Chr3:52486120 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.215T>C (p.Val72Ala) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002825642] Chr3:52451846 [GRCh38]
Chr3:52485862 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.275A>T (p.Lys92Ile) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002574496] Chr3:52451786 [GRCh38]
Chr3:52485802 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.158C>T (p.Thr53Ile) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003024150] Chr3:52452150 [GRCh38]
Chr3:52486166 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.168G>A (p.Glu56=) single nucleotide variant Cardiovascular phenotype [RCV003274040]|Dilated cardiomyopathy 1Z [RCV002790861] Chr3:52452140 [GRCh38]
Chr3:52486156 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.5A>T (p.Asp2Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002932127] Chr3:52454011 [GRCh38]
Chr3:52488027 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.163G>A (p.Glu55Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002810545] Chr3:52452145 [GRCh38]
Chr3:52486161 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.318-7C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV002647388] Chr3:52451534 [GRCh38]
Chr3:52485550 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.337del (p.Asp113fs) deletion Dilated cardiomyopathy 1Z [RCV002671601] Chr3:52451508 [GRCh38]
Chr3:52485524 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.351G>A (p.Leu117=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002601327] Chr3:52451494 [GRCh38]
Chr3:52485510 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.108C>T (p.Ile36=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002598871] Chr3:52452200 [GRCh38]
Chr3:52486216 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.317+7A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV003044258] Chr3:52451737 [GRCh38]
Chr3:52485753 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.202+16C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV002938044] Chr3:52452090 [GRCh38]
Chr3:52486106 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.147C>G (p.Gly49=) single nucleotide variant Cardiovascular phenotype [RCV004992499]|Dilated cardiomyopathy 1Z [RCV003090054] Chr3:52452161 [GRCh38]
Chr3:52486177 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.25-14C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003068698] Chr3:52452527 [GRCh38]
Chr3:52486543 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.55+20_55+21del deletion Dilated cardiomyopathy 1Z [RCV003071924] Chr3:52452462..52452463 [GRCh38]
Chr3:52486478..52486479 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.162del (p.Glu55fs) deletion Dilated cardiomyopathy 1Z [RCV003070860] Chr3:52452146 [GRCh38]
Chr3:52486162 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.306C>T (p.Arg102=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002606909] Chr3:52451755 [GRCh38]
Chr3:52485771 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.399C>T (p.Ile133=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV002680798] Chr3:52451446 [GRCh38]
Chr3:52485462 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.317+9G>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV002658228] Chr3:52451735 [GRCh38]
Chr3:52485751 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.56-16dup duplication Dilated cardiomyopathy 1Z [RCV002589524] Chr3:52452267..52452268 [GRCh38]
Chr3:52486283..52486284 [GRCh37]
Chr3:3p21.1		 benign
NM_003280.3(TNNC1):c.-7C>A single nucleotide variant not specified [RCV003226739] Chr3:52454022 [GRCh38]
Chr3:52488038 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.57G>T (p.Glu19Asp) single nucleotide variant Cardiovascular phenotype [RCV004265064] Chr3:52452251 [GRCh38]
Chr3:52486267 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.416A>G (p.Asp139Gly) single nucleotide variant Cardiovascular phenotype [RCV003288476] Chr3:52451429 [GRCh38]
Chr3:52485445 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.184G>T (p.Asp62Tyr) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003338181] Chr3:52452124 [GRCh38]
Chr3:52486140 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.55+2T>C single nucleotide variant TNNC1-related disorder [RCV003402377] Chr3:52452481 [GRCh38]
Chr3:52486497 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.64G>T (p.Ala22Ser) single nucleotide variant Cardiovascular phenotype [RCV004992609]|Dilated cardiomyopathy 1Z [RCV003448922] Chr3:52452244 [GRCh38]
Chr3:52486260 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-14C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003778165]|not specified [RCV003388504] Chr3:52451872 [GRCh38]
Chr3:52485888 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.434A>T (p.Asp145Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003807923] Chr3:52451411 [GRCh38]
Chr3:52485427 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.455-3C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003792510] Chr3:52451309 [GRCh38]
Chr3:52485325 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.486G>T (p.Ter162Tyr) single nucleotide variant Cardiomyopathy [RCV003487113] Chr3:52451275 [GRCh38]
Chr3:52485291 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.56-13C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003807276] Chr3:52452265 [GRCh38]
Chr3:52486281 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.135G>A (p.Met45Ile) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003486530] Chr3:52452173 [GRCh38]
Chr3:52486189 [GRCh37]
Chr3:3p21.1		 likely pathogenic
NM_003280.3(TNNC1):c.51A>G (p.Lys17=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003785390] Chr3:52452487 [GRCh38]
Chr3:52486503 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.56-17C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003783923] Chr3:52452269 [GRCh38]
Chr3:52486285 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.386C>G (p.Thr129Arg) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003795328] Chr3:52451459 [GRCh38]
Chr3:52485475 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.429C>A (p.Asn143Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003782331] Chr3:52451416 [GRCh38]
Chr3:52485432 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.330C>G (p.Gly110=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003795956] Chr3:52451515 [GRCh38]
Chr3:52485531 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.454+8G>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV003782394] Chr3:52451383 [GRCh38]
Chr3:52485399 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.203-7C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003784571] Chr3:52451865 [GRCh38]
Chr3:52485881 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.56-16C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV003791453] Chr3:52452268 [GRCh38]
Chr3:52486284 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.286_287delinsAT (p.Glu96Met) indel Dilated cardiomyopathy 1Z [RCV003782634] Chr3:52451774..52451775 [GRCh38]
Chr3:52485790..52485791 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-13dup duplication Dilated cardiomyopathy 1Z [RCV003783671] Chr3:52451870..52451871 [GRCh38]
Chr3:52485886..52485887 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.408C>T (p.Leu136=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003788929] Chr3:52451437 [GRCh38]
Chr3:52485453 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.188A>C (p.Glu63Ala) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003800334] Chr3:52452120 [GRCh38]
Chr3:52486136 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.133A>G (p.Met45Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003810156] Chr3:52452175 [GRCh38]
Chr3:52486191 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.150G>T (p.Gln50His) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003801279] Chr3:52452158 [GRCh38]
Chr3:52486174 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.247C>G (p.Arg83Gly) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003799171] Chr3:52451814 [GRCh38]
Chr3:52485830 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.391del (p.Asp131fs) deletion Dilated cardiomyopathy 1Z [RCV003813639] Chr3:52451454 [GRCh38]
Chr3:52485470 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.318-14C>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV003810044] Chr3:52451541 [GRCh38]
Chr3:52485557 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.268_269insT (p.Lys90fs) insertion Dilated cardiomyopathy 1Z [RCV003808190] Chr3:52451792..52451793 [GRCh38]
Chr3:52485808..52485809 [GRCh37]
Chr3:3p21.1		 uncertain significance
GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1 copy number loss not specified [RCV003986409] Chr3:51149374..59265315 [GRCh37]
Chr3:3p21.2-14.2		 pathogenic
NM_003280.3(TNNC1):c.141G>A (p.Met47Ile) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003802698] Chr3:52452167 [GRCh38]
Chr3:52486183 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.225T>C (p.Asp75=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV003802724] Chr3:52451836 [GRCh38]
Chr3:52485852 [GRCh37]
Chr3:3p21.1		 likely benign
NC_000003.11:g.(?_52485291)_(52488031_?)dup duplication Dilated cardiomyopathy 1Z [RCV004582193] Chr3:52485291..52488031 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.293C>G (p.Ser98Cys) single nucleotide variant Cardiovascular phenotype [RCV004682240] Chr3:52451768 [GRCh38]
Chr3:52485784 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.441C>T (p.Arg147=) single nucleotide variant Cardiovascular phenotype [RCV004682241] Chr3:52451404 [GRCh38]
Chr3:52485420 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.66A>G (p.Ala22=) single nucleotide variant Cardiovascular phenotype [RCV004996435] Chr3:52452242 [GRCh38]
Chr3:52486258 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.186T>C (p.Asp62=) single nucleotide variant Cardiovascular phenotype [RCV004996434] Chr3:52452122 [GRCh38]
Chr3:52486138 [GRCh37]
Chr3:3p21.1		 likely benign
GRCh37/hg19 3p21.2-21.1(chr3:51962412-53969609)x1 copy number loss not provided [RCV004819336] Chr3:51962412..53969609 [GRCh37]
Chr3:3p21.2-21.1		 pathogenic
NM_003280.3(TNNC1):c.-6G>A single nucleotide variant not specified [RCV005087673] Chr3:52454021 [GRCh38]
Chr3:52488037 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.332A>G (p.Tyr111Cys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005214577] Chr3:52451513 [GRCh38]
Chr3:52485529 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.306C>A (p.Arg102=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005214989] Chr3:52451755 [GRCh38]
Chr3:52485771 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.55+20A>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV005226948] Chr3:52452463 [GRCh38]
Chr3:52486479 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.318-19C>T single nucleotide variant Dilated cardiomyopathy 1Z [RCV005228905] Chr3:52451546 [GRCh38]
Chr3:52485562 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.89del (p.Gly30fs) deletion Dilated cardiomyopathy 1Z [RCV005209761] Chr3:52452219 [GRCh38]
Chr3:52486235 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.317+16T>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV005210001] Chr3:52451728 [GRCh38]
Chr3:52485744 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.471G>C (p.Met157Ile) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005226376] Chr3:52451290 [GRCh38]
Chr3:52485306 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.439C>A (p.Arg147Ser) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005213153] Chr3:52451406 [GRCh38]
Chr3:52485422 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.483G>T (p.Glu161Asp) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005212915] Chr3:52451278 [GRCh38]
Chr3:52485294 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.16A>C (p.Lys6Gln) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005223684] Chr3:52454000 [GRCh38]
Chr3:52488016 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.25-13C>G single nucleotide variant Dilated cardiomyopathy 1Z [RCV005224122] Chr3:52452526 [GRCh38]
Chr3:52486542 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.53dup (p.Asn18fs) duplication Dilated cardiomyopathy 1Z [RCV005224282] Chr3:52452484..52452485 [GRCh38]
Chr3:52486500..52486501 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.203-7C>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV005217894] Chr3:52451865 [GRCh38]
Chr3:52485881 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.75C>T (p.Asp25=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005217012] Chr3:52452233 [GRCh38]
Chr3:52486249 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.358A>C (p.Met120Leu) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005222372] Chr3:52451487 [GRCh38]
Chr3:52485503 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.137G>A (p.Arg46Lys) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005224883] Chr3:52452171 [GRCh38]
Chr3:52486187 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.24+19T>C single nucleotide variant Dilated cardiomyopathy 1Z [RCV005216752] Chr3:52453973 [GRCh38]
Chr3:52487989 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.165G>A (p.Glu55=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005216754] Chr3:52452143 [GRCh38]
Chr3:52486159 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.307A>G (p.Met103Val) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005217152] Chr3:52451754 [GRCh38]
Chr3:52485770 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.24+17G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV005216565] Chr3:52453975 [GRCh38]
Chr3:52487991 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.331T>C (p.Tyr111His) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005220439] Chr3:52451514 [GRCh38]
Chr3:52485530 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.369T>C (p.Ala123=) single nucleotide variant Dilated cardiomyopathy 1Z [RCV005217005] Chr3:52451476 [GRCh38]
Chr3:52485492 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.318-17G>A single nucleotide variant Dilated cardiomyopathy 1Z [RCV005223409] Chr3:52451544 [GRCh38]
Chr3:52485560 [GRCh37]
Chr3:3p21.1		 likely benign
NM_003280.3(TNNC1):c.225T>G (p.Asp75Glu) single nucleotide variant Cardiovascular phenotype [RCV003341688]|Dilated cardiomyopathy 1Z [RCV005228011] Chr3:52451836 [GRCh38]
Chr3:52485852 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.412A>G (p.Lys138Glu) single nucleotide variant Cardiovascular phenotype [RCV003341690] Chr3:52451433 [GRCh38]
Chr3:52485449 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.230del (p.Phe77fs) deletion Cardiovascular phenotype [RCV003341689]|Dilated cardiomyopathy 1Z [RCV003777446] Chr3:52451831 [GRCh38]
Chr3:52485847 [GRCh37]
Chr3:3p21.1		 uncertain significance
NM_003280.3(TNNC1):c.154C>T (p.Pro52Ser) single nucleotide variant Cardiovascular phenotype [RCV003341687] Chr3:52452154 [GRCh38]
Chr3:52486170 [GRCh37]
Chr3:3p21.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1085
Count of miRNA genes:538
Interacting mature miRNAs:613
Transcripts:ENST00000232975, ENST00000461086, ENST00000496590
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298487BFD1_HBody fluid distribution QTL 1 (human)3.94Body fluid distributionimpedance ratio33638071262380712Human
1298489RA4_HRheumatoid arthritis QTL 4 (human)0.0283Joint/bone inflammationrheumatoid arthritis33638071262380712Human
1643509BW293_HBody Weight QTL 293 (human)1.42Body weightBMI33638071262380712Human
597237845GWAS1333919_HBMI-adjusted waist-hip ratio QTL GWAS1333919 (human)1e-09body size trait (VT:0100005)35245288652452887Human
2289308BW392_HBody weight QTL 392 (human)1.42Body weightBMI33638071262380712Human
1331643COPD16_HChronic obstructive pulmonary disease QTL 16 (human)1.07Chronic airflow obstructionpost-BD FEV1 minus pre-BD FEV1/pre-BD FEV1 x 10034938065175380651Human

Markers in Region
SGC35451  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,485,118 - 52,485,292UniSTSGRCh37
Build 36352,460,158 - 52,460,332RGDNCBI36
Celera352,464,363 - 52,464,537RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,547,776 - 52,547,950UniSTS
GeneMap99-GB4 RH Map3162.7UniSTS
Whitehead-RH Map3214.2UniSTS
RH79154  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,485,237 - 52,485,480UniSTSGRCh37
Build 36352,460,277 - 52,460,520RGDNCBI36
Celera352,464,482 - 52,464,725RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,547,895 - 52,548,138UniSTS
GeneMap99-GB4 RH Map3162.7UniSTS
STS-M37984  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,485,118 - 52,485,297UniSTSGRCh37
Build 36352,460,158 - 52,460,337RGDNCBI36
Celera352,464,363 - 52,464,542RGD
Cytogenetic Map3p21.1UniSTS
HuRef352,547,776 - 52,547,955UniSTS
GeneMap99-GB4 RH Map3164.33UniSTS
MARC_5631-5632:996690526:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37352,485,520 - 52,486,526UniSTSGRCh37
Celera352,464,765 - 52,465,771UniSTS
HuRef352,548,178 - 52,549,184UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2432 2788 2249 4931 1723 2341 5 622 1925 463 2260 7268 6443 51 3703 1 846 1732 1610 172 1

Sequence


Ensembl Acc Id: ENST00000232975   ⟹   ENSP00000232975
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,451,100 - 52,454,041 (-)Ensembl
Ensembl Acc Id: ENST00000461086
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,451,439 - 52,451,991 (-)Ensembl
Ensembl Acc Id: ENST00000496590   ⟹   ENSP00000420596
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl352,451,415 - 52,452,834 (-)Ensembl
RefSeq Acc Id: NM_003280   ⟹   NP_003271
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,451,100 - 52,454,041 (-)NCBI
GRCh37352,485,107 - 52,488,057 (-)ENTREZGENE
Build 36352,460,158 - 52,463,098 (-)NCBI Archive
HuRef352,547,765 - 52,550,715 (-)ENTREZGENE
CHM1_1352,437,484 - 52,440,434 (-)NCBI
T2T-CHM13v2.0352,484,001 - 52,486,942 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003271   ⟸   NM_003280
- UniProtKB: P02590 (UniProtKB/Swiss-Prot),   O14800 (UniProtKB/Swiss-Prot),   P04463 (UniProtKB/Swiss-Prot),   P63316 (UniProtKB/Swiss-Prot),   Q6FH91 (UniProtKB/TrEMBL),   A0A024R2Z4 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000232975   ⟸   ENST00000232975
Ensembl Acc Id: ENSP00000420596   ⟸   ENST00000496590
Protein Domains
EF-hand

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P63316-F1-model_v2 AlphaFold P63316 1-161 view protein structure

Promoters
RGD ID:6864652
Promoter ID:EPDNEW_H5491
Type:multiple initiation site
Name:TNNC1_1
Description:troponin C1, slow skeletal and cardiac type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5492  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,454,041 - 52,454,101EPDNEW
RGD ID:6864654
Promoter ID:EPDNEW_H5492
Type:initiation region
Name:TNNC1_2
Description:troponin C1, slow skeletal and cardiac type
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H5491  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38352,455,431 - 52,455,491EPDNEW
RGD ID:6851748
Promoter ID:EP73679
Type:single initiation site
Name:HS_TNNC1
Description:Troponin C, slow.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 36352,463,097 - 52,463,157EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11943 AgrOrtholog
COSMIC TNNC1 COSMIC
Ensembl Genes ENSG00000114854 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000232975 ENTREZGENE
  ENST00000232975.8 UniProtKB/Swiss-Prot
  ENST00000496590.1 UniProtKB/TrEMBL
Gene3D-CATH EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000114854 GTEx
HGNC ID HGNC:11943 ENTREZGENE
Human Proteome Map TNNC1 Human Proteome Map
InterPro Ca-Reg_Muscle_Contr_Cell_Proc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7134 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 7134 ENTREZGENE
OMIM 191040 OMIM
PANTHER MYOSIN LIGHT CHAIN 1, 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TROPONIN C1, SLOW SKELETAL AND CARDIAC TYPE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36632 PharmGKB
PRINTS RECOVERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART EFh UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R2Z4 ENTREZGENE
  C9JDI3_HUMAN UniProtKB/TrEMBL
  O14800 ENTREZGENE
  P02590 ENTREZGENE
  P04463 ENTREZGENE
  P63316 ENTREZGENE
  Q6FH91 ENTREZGENE, UniProtKB/TrEMBL
  TNNC1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A0A024R2Z4 UniProtKB/TrEMBL
  O14800 UniProtKB/Swiss-Prot
  P02590 UniProtKB/Swiss-Prot
  P04463 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-23 TNNC1  troponin C1, slow skeletal and cardiac type  TNNC1  troponin C type 1 (slow)  Symbol and/or name change 5135510 APPROVED