CSRP3 (cysteine and glycine rich protein 3) - Rat Genome Database

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Gene: CSRP3 (cysteine and glycine rich protein 3) Homo sapiens
Analyze
Symbol: CSRP3
Name: cysteine and glycine rich protein 3
RGD ID: 733068
HGNC Page HGNC:2472
Description: Enables identical protein binding activity and telethonin binding activity. A structural constituent of muscle. Involved in several processes, including cardiac muscle contraction; cardiac muscle hypertrophy; and detection of muscle stretch. Acts upstream of or within positive regulation of transcription by RNA polymerase II; regulation of actin filament severing; and regulation of myoblast differentiation. Located in Z disc; cytosol; and nucleoplasm. Implicated in dilated cardiomyopathy; dilated cardiomyopathy 1M; hypertrophic cardiomyopathy; and hypertrophic cardiomyopathy 12.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: cardiac LIM domain protein; CLP; CMD1M; CMH12; CRP3; cysteine and glycine-rich protein 3; cysteine and glycine-rich protein 3 (cardiac LIM protein); cysteine-rich protein 3; LIM domain only 4; LIM domain protein, cardiac; LMO4; MGC14488; MGC61993; MLP; muscle LIM protein; muscle lim protein isoform
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
GRCh381119,182,030 - 19,201,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1119,182,030 - 19,210,571 (-)EnsemblGRCh38hg38GRCh38
GRCh371119,203,577 - 19,223,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361119,160,154 - 19,180,177 (-)NCBINCBI36Build 36hg18NCBI36
Build 341119,160,153 - 19,180,177NCBI
Celera1119,336,055 - 19,356,021 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,887,548 - 18,916,047 (-)NCBIHuRef
CHM1_11119,202,919 - 19,231,414 (-)NCBICHM1_1
T2T-CHM13v2.01119,302,167 - 19,322,081 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1-benzylpiperazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
alpha-Zearalanol  (ISO)
amiodarone  (ISO)
amitriptyline  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arsenous acid  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
Botulinum toxin type A  (ISO)
cantharidin  (ISO)
carmustine  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
corticosterone  (ISO)
cyclosporin A  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
dichlorine  (ISO)
diethyl maleate  (ISO)
dioxygen  (ISO)
disodium selenite  (EXP)
doxorubicin  (EXP)
Echimidine  (ISO)
genistein  (ISO)
Heliotrine  (ISO)
Indeno[1,2,3-cd]pyrene  (ISO)
inulin  (ISO)
lidocaine  (ISO)
lipopolysaccharide  (EXP)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mercury dichloride  (ISO)
methotrexate  (ISO)
methoxychlor  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
N-nitrosodiethylamine  (ISO)
naphthalenes  (ISO)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
perfluorohexanesulfonic acid  (EXP,ISO)
perfluorononanoic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenobarbital  (ISO)
phenylephrine  (ISO)
pioglitazone  (ISO)
pirinixic acid  (EXP,ISO)
potassium bromate  (ISO)
progesterone  (ISO)
resveratrol  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
S-nitroso-N-acetyl-D-penicillamine  (ISO)
streptozocin  (ISO)
sulforaphane  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
triclosan  (EXP)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vanadyl sulfate  (ISO)
verapamil  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IBA,IEA)
cytoskeleton  (IEA)
cytosol  (IDA)
nucleoplasm  (IDA)
nucleus  (IBA,IEA)
sarcomere  (IEA)
Z disc  (IBA,IDA,IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Downregulation and nuclear relocation of MLP during the progression of right ventricular hypertrophy induced by chronic pressure overload. Ecarnot-Laubriet A, etal., J Mol Cell Cardiol. 2000 Dec;32(12):2385-95.
2. Mutations in the human muscle LIM protein gene in families with hypertrophic cardiomyopathy. Geier C, etal., Circulation. 2003 Mar 18;107(10):1390-5.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Knoll R, etal., Cell 2002 Dec 27;111(7):943-55.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. Online Mendelian Inheritance in Man, OMIM (TM). Online Mendelian Inheritance in Man, OMIM (TM).
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7490106   PMID:7499425   PMID:7954791   PMID:8782062   PMID:9234731   PMID:10751147   PMID:12127981   PMID:12477932   PMID:12878195   PMID:15205937   PMID:15489334   PMID:15582318  
PMID:17519359   PMID:18250163   PMID:18331358   PMID:18393774   PMID:18505755   PMID:18513529   PMID:19035361   PMID:19230835   PMID:19293840   PMID:19351738   PMID:19412328   PMID:19636821  
PMID:19752190   PMID:19875404   PMID:19913121   PMID:20044516   PMID:20201937   PMID:20301486   PMID:20301725   PMID:20474083   PMID:20628086   PMID:21873635   PMID:22584587   PMID:23414517  
PMID:24860983   PMID:24934443   PMID:25814554   PMID:30012424   PMID:31406109   PMID:31919335   PMID:32606430   PMID:32814053   PMID:33035702   PMID:33961781   PMID:35241752   PMID:36877346  


Genomics

Comparative Map Data
CSRP3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381119,182,030 - 19,201,983 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1119,182,030 - 19,210,571 (-)EnsemblGRCh38hg38GRCh38
GRCh371119,203,577 - 19,223,530 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361119,160,154 - 19,180,177 (-)NCBINCBI36Build 36hg18NCBI36
Build 341119,160,153 - 19,180,177NCBI
Celera1119,336,055 - 19,356,021 (-)NCBICelera
Cytogenetic Map11p15.1NCBI
HuRef1118,887,548 - 18,916,047 (-)NCBIHuRef
CHM1_11119,202,919 - 19,231,414 (-)NCBICHM1_1
T2T-CHM13v2.01119,302,167 - 19,322,081 (-)NCBIT2T-CHM13v2.0
Csrp3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39748,480,146 - 48,497,799 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl748,480,146 - 48,497,781 (-)EnsemblGRCm39 Ensembl
GRCm38748,830,398 - 48,848,051 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl748,830,398 - 48,848,033 (-)EnsemblGRCm38mm10GRCm38
MGSCv37756,085,768 - 56,099,021 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36748,698,419 - 48,711,672 (-)NCBIMGSCv36mm8
Celera744,274,422 - 44,287,671 (-)NCBICelera
Cytogenetic Map7B4NCBI
cM Map731.11NCBI
Csrp3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81107,664,338 - 107,682,916 (-)NCBIGRCr8
mRatBN7.2198,528,067 - 98,546,647 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl198,528,068 - 98,546,653 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1103,881,687 - 103,900,350 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01112,353,629 - 112,372,274 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01105,676,355 - 105,694,925 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01104,147,205 - 104,166,389 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1104,147,206 - 104,166,367 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01105,206,459 - 105,225,635 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4198,601,681 - 98,611,747 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1198,679,791 - 98,689,858 (-)NCBI
Celera192,735,902 - 92,745,962 (-)NCBICelera
Cytogenetic Map1q22NCBI
Csrp3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955476154,917 - 176,616 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955476155,913 - 176,122 (-)NCBIChiLan1.0ChiLan1.0
CSRP3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2921,487,369 - 21,507,272 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11121,447,665 - 21,467,550 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01119,208,025 - 19,228,000 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11119,121,234 - 19,149,374 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1119,121,234 - 19,140,820 (-)Ensemblpanpan1.1panPan2
CSRP3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12141,300,277 - 41,318,788 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2141,300,425 - 41,318,738 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2140,778,804 - 40,797,354 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02142,423,567 - 42,442,117 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2142,423,567 - 42,442,039 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12141,425,878 - 41,444,425 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02141,603,282 - 41,621,845 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02141,980,467 - 41,999,019 (-)NCBIUU_Cfam_GSD_1.0
Csrp3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494743,636,738 - 43,655,378 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936654271,067 - 289,823 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936654271,067 - 313,251 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CSRP3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl240,215,353 - 40,240,616 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1240,219,288 - 40,240,614 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2243,258,339 - 43,279,704 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CSRP3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1145,792,106 - 45,813,715 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl145,803,243 - 45,813,800 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666038143,137,913 - 143,148,273 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Csrp3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462476610,611,804 - 10,631,490 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462476610,611,798 - 10,631,567 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CSRP3
389 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003476.5(CSRP3):c.26A>C (p.Lys9Thr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000554657]|not provided [RCV003327422] Chr11:19192423 [GRCh38]
Chr11:19213970 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.461T>G (p.Leu154Arg) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000544596] Chr11:19184999 [GRCh38]
Chr11:19206546 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.251C>T (p.Thr84Met) single nucleotide variant Cardiovascular phenotype [RCV002431710]|Hypertrophic cardiomyopathy 12 [RCV000524635] Chr11:19188166 [GRCh38]
Chr11:19209713 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.282-3C>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000526142] Chr11:19186351 [GRCh38]
Chr11:19207898 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.524dup (p.Asn175fs) duplication Hypertrophic cardiomyopathy 12 [RCV000552472] Chr11:19182730..19182731 [GRCh38]
Chr11:19204277..19204278 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.562CAA[1] (p.Gln189del) microsatellite Hypertrophic cardiomyopathy 12 [RCV001257228]|not provided [RCV000520509] Chr11:19182688..19182690 [GRCh38]
Chr11:19204235..19204237 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.164A>G (p.Glu55Gly) single nucleotide variant Familial hypertrophic cardiomyopathy 12 [RCV000144440] Chr11:19188253 [GRCh38]
Chr11:19209800 [GRCh37]
Chr11:11p15.1		 not provided
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) single nucleotide variant Cardiomyopathy [RCV000029622]|Cardiovascular phenotype [RCV002453271]|Hypertrophic cardiomyopathy 12 [RCV000653699]|not provided [RCV001529100] Chr11:19186265 [GRCh38]
Chr11:19207812 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) single nucleotide variant CSRP3-related disorder [RCV004532315]|Cardiomyopathy [RCV000770316]|Cardiovascular phenotype [RCV000251021]|Dilated cardiomyopathy 1M [RCV000009321]|Hypertrophic cardiomyopathy 12 [RCV000201441]|Hypertrophic cardiomyopathy 12 [RCV001084134]|Hypertrophic cardiomyopathy [RCV000999619]|Hypertrophic cardiomyopathy [RCV003993742]|Primary dilated cardiomyopathy [RCV000172743]|not provided [RCV000487821]|not specified [RCV000150371] Chr11:19192439 [GRCh38]
Chr11:19213986 [GRCh37]
Chr11:11p15.1		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly) single nucleotide variant Cardiovascular phenotype [RCV002399315]|Hypertrophic cardiomyopathy 12 [RCV000009322] Chr11:19188245 [GRCh38]
Chr11:19209792 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) single nucleotide variant Cardiovascular phenotype [RCV000621095]|Hypertrophic cardiomyopathy 12 [RCV000009323]|Hypertrophic cardiomyopathy 12 [RCV000627796]|Hypertrophic cardiomyopathy [RCV000768501]|See cases [RCV003231096]|not provided [RCV001529867]|not specified [RCV000037770] Chr11:19188286 [GRCh38]
Chr11:19209833 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.4(CSRP3):c.160_164delTCGGAinsAGGGG (p.Ser54_Glu55delinsArgGly) indel Familial hypertrophic cardiomyopathy 12 [RCV000009324] Chr11:19188253..19188257 [GRCh38]
Chr11:19209800..19209804 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg) single nucleotide variant Cardiovascular phenotype [RCV000254537]|Dilated cardiomyopathy 1M [RCV000009325]|Hypertrophic cardiomyopathy 12 [RCV000196843]|Hypertrophic cardiomyopathy [RCV001254753]|not provided [RCV000505800] Chr11:19188211 [GRCh38]
Chr11:19209758 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg) single nucleotide variant Cardiomyopathy [RCV001170939]|Cardiovascular phenotype [RCV002381246]|Hypertrophic cardiomyopathy 12 [RCV000009326]|Hypertrophic cardiomyopathy 12 [RCV000549408]|not provided [RCV001703415]|not specified [RCV000183335] Chr11:19188281 [GRCh38]
Chr11:19209828 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) single nucleotide variant Cardiovascular phenotype [RCV003162328]|Hypertrophic cardiomyopathy 12 [RCV001361320]|not provided [RCV001528411]|not specified [RCV000037771] Chr11:19188277 [GRCh38]
Chr11:19209824 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.219T>C (p.Tyr73=) single nucleotide variant not specified [RCV000037772] Chr11:19188198 [GRCh38]
Chr11:19209745 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.148G>A (p.Ala50Thr) single nucleotide variant CSRP3-related disorder [RCV004734550]|Cardiovascular phenotype [RCV004018845]|Hypertrophic cardiomyopathy 12 [RCV000653691]|not provided [RCV003480040]|not specified [RCV000037773] Chr11:19188269 [GRCh38]
Chr11:19209816 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.150G>A (p.Ala50=) single nucleotide variant Cardiovascular phenotype [RCV000244162]|Hypertrophic cardiomyopathy 12 [RCV000371899]|Hypertrophic cardiomyopathy 12 [RCV001082615]|not provided [RCV000845319]|not specified [RCV000037774] Chr11:19188267 [GRCh38]
Chr11:19209814 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_003476.5(CSRP3):c.152C>A (p.Ala51Asp) single nucleotide variant Cardiomyopathy [RCV003149634]|Cardiovascular phenotype [RCV003338392]|Hypertrophic cardiomyopathy 12 [RCV002504895]|not provided [RCV000788118]|not specified [RCV000037775] Chr11:19188265 [GRCh38]
Chr11:19209812 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.191G>A (p.Arg64His) single nucleotide variant Cardiomyopathy [RCV002470733]|Cardiovascular phenotype [RCV004018846]|Hypertrophic cardiomyopathy 12 [RCV001852788]|not provided [RCV001762116]|not specified [RCV000037776] Chr11:19188226 [GRCh38]
Chr11:19209773 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.197A>G (p.Tyr66Cys) single nucleotide variant Cardiomyopathy [RCV000770312]|Cardiovascular phenotype [RCV004018847]|Hypertrophic cardiomyopathy 12 [RCV001852789]|Primary familial hypertrophic cardiomyopathy [RCV000208102]|not provided [RCV004589530]|not specified [RCV000037777] Chr11:19188220 [GRCh38]
Chr11:19209767 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.213C>T (p.Ile71=) single nucleotide variant Cardiomyopathy [RCV000769306]|Cardiovascular phenotype [RCV000243128]|Hypertrophic cardiomyopathy 12 [RCV000206392]|Hypertrophic cardiomyopathy 12 [RCV000342792]|not provided [RCV001529538]|not specified [RCV000037778] Chr11:19188204 [GRCh38]
Chr11:19209751 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NM_003476.5(CSRP3):c.282-5_285del deletion Hypertrophic cardiomyopathy 12 [RCV001852790]|not provided [RCV001699109]|not specified [RCV000037779] Chr11:19186345..19186353 [GRCh38]
Chr11:19207892..19207900 [GRCh37]
Chr11:11p15.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.5(CSRP3):c.299G>A (p.Arg100His) single nucleotide variant CSRP3-related disorder [RCV004534801]|Cardiomyopathy [RCV001170413]|Cardiovascular phenotype [RCV000617191]|Hypertrophic cardiomyopathy 12 [RCV001087554]|Hypertrophic cardiomyopathy 12 [RCV001107280]|Hypertrophic cardiomyopathy [RCV000143875]|not provided [RCV000514222]|not specified [RCV000037780] Chr11:19186331 [GRCh38]
Chr11:19207878 [GRCh37]
Chr11:19164454 [NCBI36]
Chr11:11p15.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) single nucleotide variant CSRP3-related disorder [RCV004534802]|Cardiomyopathy [RCV000769304]|Cardiovascular phenotype [RCV000243280]|Hypertrophic cardiomyopathy 12 [RCV000269525]|Hypertrophic cardiomyopathy 12 [RCV001081877]|not provided [RCV000587893]|not specified [RCV000037781] Chr11:19186318 [GRCh38]
Chr11:19207865 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) single nucleotide variant Cardiomyopathy [RCV001170411]|Cardiovascular phenotype [RCV000246047]|Hypertrophic cardiomyopathy 12 [RCV000371114]|Hypertrophic cardiomyopathy 12 [RCV000860521]|Primary dilated cardiomyopathy [RCV000710025]|not provided [RCV001354194]|not specified [RCV000037782] Chr11:19186294 [GRCh38]
Chr11:19207841 [GRCh37]
Chr11:11p15.1		 likely pathogenic|benign|likely benign|uncertain significance
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) single nucleotide variant Cardiovascular phenotype [RCV004018848]|Hypertrophic cardiomyopathy 12 [RCV000702155]|not provided [RCV001528600]|not specified [RCV000037783] Chr11:19186251 [GRCh38]
Chr11:19207798 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.456G>A (p.Lys152=) single nucleotide variant Cardiovascular phenotype [RCV002336133]|not specified [RCV000037784] Chr11:19185004 [GRCh38]
Chr11:19206551 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.47C>T (p.Thr16Ile) single nucleotide variant not specified [RCV000037785] Chr11:19192402 [GRCh38]
Chr11:19213949 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.509-3_509-2del microsatellite Cardiovascular phenotype [RCV004018849]|Hypertrophic cardiomyopathy 12 [RCV001427729]|Hypertrophic cardiomyopathy 12 [RCV004593980]|Hypertrophic cardiomyopathy [RCV003993758]|not provided [RCV001781355]|not specified [RCV000037786] Chr11:19182748..19182749 [GRCh38]
Chr11:19204295..19204296 [GRCh37]
Chr11:11p15.1		 likely pathogenic|likely benign|uncertain significance
NM_003476.5(CSRP3):c.535A>G (p.Thr179Ala) single nucleotide variant Cardiomyopathy [RCV000769295]|Cardiovascular phenotype [RCV003298069]|Hypertrophic cardiomyopathy 12 [RCV000700094]|not provided [RCV001699187]|not specified [RCV000037787] Chr11:19182720 [GRCh38]
Chr11:19204267 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1 copy number loss See cases [RCV000052646] Chr11:17905089..19674505 [GRCh38]
Chr11:17926636..19696051 [GRCh37]
Chr11:17883212..19652627 [NCBI36]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.5-13(chr11:202758-31726224)x3 copy number gain See cases [RCV000053613] Chr11:202758..31726224 [GRCh38]
Chr11:202758..31747772 [GRCh37]
Chr11:192758..31704348 [NCBI36]
Chr11:11p15.5-13		 pathogenic
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) single nucleotide variant Cardiomyopathy [RCV000770313]|Cardiovascular phenotype [RCV000620498]|Hypertrophic cardiomyopathy 12 [RCV000456702]|Hypertrophic cardiomyopathy 12 [RCV001107936]|not specified [RCV000124614] Chr11:19188255 [GRCh38]
Chr11:19209802 [GRCh37]
Chr11:11p15.1		 benign|likely benign|uncertain significance
NC_000011.10:g.19201999T>G single nucleotide variant Cardiomyopathy [RCV000770317]|Hypertrophic cardiomyopathy 12 [RCV000337116]|not specified [RCV000150372] Chr11:19201999 [GRCh38]
Chr11:19223546 [GRCh37]
Chr11:11p15.1		 benign|uncertain significance|not provided
NM_003476.5(CSRP3):c.151G>T (p.Ala51Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001302724] Chr11:19188266 [GRCh38]
Chr11:19209813 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.322del (p.Ser108fs) deletion Hypertrophic cardiomyopathy [RCV000999578] Chr11:19186308 [GRCh38]
Chr11:19207855 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly) indel Hypertrophic cardiomyopathy 12 [RCV000009324] Chr11:19188253..19188257 [GRCh38]
Chr11:19209800..19209804 [GRCh37]
Chr11:11p15.1		 pathogenic
GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3 copy number gain See cases [RCV000134932] Chr11:18526222..20748125 [GRCh38]
Chr11:18547769..20769671 [GRCh37]
Chr11:18504345..20726247 [NCBI36]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.516T>C (p.Tyr172=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001479035]|not provided [RCV000868797]|not specified [RCV000155743] Chr11:19182739 [GRCh38]
Chr11:19204286 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.10:g.19202009T>C single nucleotide variant not specified [RCV000155873] Chr11:19202009 [GRCh38]
Chr11:19223556 [GRCh37]
Chr11:11p15.1		 not provided
NM_003476.5(CSRP3):c.*12G>A single nucleotide variant Cardiomyopathy [RCV000769293]|Hypertrophic cardiomyopathy 12 [RCV002492552]|not specified [RCV000150364] Chr11:19182658 [GRCh38]
Chr11:19204205 [GRCh37]
Chr11:11p15.1		 benign|likely benign|not provided
NM_003476.5(CSRP3):c.579_582del (p.Lys193fs) microsatellite Hypertrophic cardiomyopathy [RCV003993829]|not specified [RCV000150365] Chr11:19182673..19182676 [GRCh38]
Chr11:19204220..19204223 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.437G>A (p.Arg146His) single nucleotide variant Cardiomyopathy [RCV000769299]|Cardiovascular phenotype [RCV004019803]|Hypertrophic cardiomyopathy 12 [RCV000532109]|Hypertrophic cardiomyopathy [RCV001254750]|Prolonged QT interval [RCV000498289]|not provided [RCV001528571]|not specified [RCV000150367] Chr11:19185023 [GRCh38]
Chr11:19206570 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.265G>A (p.Gly89Ser) single nucleotide variant Cardiovascular phenotype [RCV002453481]|Hypertrophic cardiomyopathy 12 [RCV001107933]|Hypertrophic cardiomyopathy 12 [RCV001346369]|not specified [RCV000150368] Chr11:19188152 [GRCh38]
Chr11:19209699 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.10:g.19202013T>C single nucleotide variant not specified [RCV000150373] Chr11:19202013 [GRCh38]
Chr11:19223560 [GRCh37]
Chr11:11p15.1		 not provided
NM_003476.5(CSRP3):c.539G>T (p.Gly180Val) single nucleotide variant Cardiovascular phenotype [RCV002345517]|Hypertrophic cardiomyopathy 12 [RCV003764967]|not provided [RCV004760402]|not specified [RCV000156278] Chr11:19182716 [GRCh38]
Chr11:19204263 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.334G>C (p.Ala112Pro) single nucleotide variant Cardiovascular phenotype [RCV002321649]|not specified [RCV000156290] Chr11:19186296 [GRCh38]
Chr11:19207843 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.272A>T (p.Gln91Leu) single nucleotide variant Cardiovascular phenotype [RCV002433676]|Hypertrophic cardiomyopathy 1 [RCV001256872]|Hypertrophic cardiomyopathy 12 [RCV000764959]|not specified [RCV000154695] Chr11:19188145 [GRCh38]
Chr11:19209692 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.536C>T (p.Thr179Met) single nucleotide variant CSRP3-related disorder [RCV004532673]|Cardiovascular phenotype [RCV002345461]|Hypertrophic cardiomyopathy 12 [RCV000201497]|Hypertrophic cardiomyopathy 12 [RCV000231901]|not provided [RCV000786289]|not specified [RCV000150366] Chr11:19182719 [GRCh38]
Chr11:19204266 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg) single nucleotide variant Cardiomyopathy [RCV000770315]|Cardiovascular phenotype [RCV002408664]|Hypertrophic cardiomyopathy 12 [RCV001082041]|Primary familial hypertrophic cardiomyopathy [RCV000623694]|not provided [RCV000788865]|not specified [RCV000150370] Chr11:19192433 [GRCh38]
Chr11:19213980 [GRCh37]
Chr11:11p15.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.5(CSRP3):c.508+9T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002056096]|not specified [RCV000155664] Chr11:19184943 [GRCh38]
Chr11:19206490 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_003476.5(CSRP3):c.465G>T (p.Glu155Asp) single nucleotide variant not specified [RCV000183330] Chr11:19184995 [GRCh38]
Chr11:19206542 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.508+18C>T single nucleotide variant Cardiovascular phenotype [RCV004017462]|Hypertrophic cardiomyopathy 12 [RCV002054179]|not provided [RCV001812177]|not specified [RCV000183331] Chr11:19184934 [GRCh38]
Chr11:19206481 [GRCh37]
Chr11:11p15.1		 pathogenic|benign|likely benign
NM_003476.5(CSRP3):c.509-20C>A single nucleotide variant not specified [RCV000183332] Chr11:19182766 [GRCh38]
Chr11:19204313 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.86G>A (p.Ser29Asn) single nucleotide variant Cardiovascular phenotype [RCV002444739]|Hypertrophic cardiomyopathy 12 [RCV000200582]|not provided [RCV001704876] Chr11:19192363 [GRCh38]
Chr11:19213910 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.116C>A (p.Ala39Asp) single nucleotide variant Cardiovascular phenotype [RCV002326990]|Hypertrophic cardiomyopathy 12 [RCV001852350]|not specified [RCV000183334] Chr11:19188301 [GRCh38]
Chr11:19209848 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.229G>T (p.Ala77Ser) single nucleotide variant Cardiovascular phenotype [RCV002444740]|Hypertrophic cardiomyopathy 12 [RCV000320610]|Hypertrophic cardiomyopathy 12 [RCV001341005]|not provided [RCV001704877] Chr11:19188188 [GRCh38]
Chr11:19209735 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.544G>C (p.Gly182Arg) single nucleotide variant Cardiovascular phenotype [RCV002345639]|Hypertrophic cardiomyopathy 12 [RCV000546066]|not provided [RCV004589835] Chr11:19182711 [GRCh38]
Chr11:19204258 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.508G>T (p.Val170Phe) single nucleotide variant not specified [RCV000183340] Chr11:19184952 [GRCh38]
Chr11:19206499 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.281+25T>G single nucleotide variant not provided [RCV001575737] Chr11:19188111 [GRCh38]
Chr11:19209658 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.337A>T (p.Lys113Ter) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000198698] Chr11:19186293 [GRCh38]
Chr11:19207840 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.93C>G (p.His31Gln) single nucleotide variant Cardiovascular phenotype [RCV004020487]|Hypertrophic cardiomyopathy 1 [RCV000201925]|Hypertrophic cardiomyopathy 12 [RCV001231161] Chr11:19192356 [GRCh38]
Chr11:19213903 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.15C>A (p.Gly5=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002515514] Chr11:19192434 [GRCh38]
Chr11:19213981 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr) single nucleotide variant Cardiomyopathy [RCV000769298]|Cardiovascular phenotype [RCV000617264]|Hypertrophic cardiomyopathy 12 [RCV000203888]|Hypertrophic cardiomyopathy 12 [RCV004594028]|Primary familial hypertrophic cardiomyopathy [RCV003401104]|not provided [RCV003324730]|not specified [RCV000220445] Chr11:19185011 [GRCh38]
Chr11:19206558 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance|no classifications from unflagged records
NM_003476.5(CSRP3):c.112+1G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001037056]|Primary familial hypertrophic cardiomyopathy [RCV000208187]|not provided [RCV004696872] Chr11:19192336 [GRCh38]
Chr11:19213883 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.353A>G (p.Glu118Gly) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208293] Chr11:19186277 [GRCh38]
Chr11:19207824 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.388G>C (p.Ala130Pro) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208476] Chr11:19186242 [GRCh38]
Chr11:19207789 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.49del (p.Val17fs) deletion Hypertrophic cardiomyopathy 12 [RCV001853296]|Primary dilated cardiomyopathy [RCV000208380] Chr11:19192400 [GRCh38]
Chr11:19213947 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.354G>C (p.Glu118Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001042397]|not specified [RCV000216724] Chr11:19186276 [GRCh38]
Chr11:19207823 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.256G>A (p.Glu86Lys) single nucleotide variant CSRP3-related disorder [RCV004734885]|Cardiovascular phenotype [RCV002450690]|Hypertrophic cardiomyopathy 12 [RCV000228098]|not provided [RCV000493807] Chr11:19188161 [GRCh38]
Chr11:19209708 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.452G>A (p.Gly151Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000228626] Chr11:19185008 [GRCh38]
Chr11:19206555 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.269T>C (p.Leu90Pro) single nucleotide variant Cardiovascular phenotype [RCV004609330]|Hypertrophic cardiomyopathy 12 [RCV000230939] Chr11:19188148 [GRCh38]
Chr11:19209695 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.352G>A (p.Glu118Lys) single nucleotide variant Cardiovascular phenotype [RCV000617928]|Hypertrophic cardiomyopathy 12 [RCV000233661] Chr11:19186278 [GRCh38]
Chr11:19207825 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.233G>T (p.Gly78Val) single nucleotide variant Cardiovascular phenotype [RCV000620040]|Hypertrophic cardiomyopathy 12 [RCV003767769]|Primary dilated cardiomyopathy [RCV000710024] Chr11:19188184 [GRCh38]
Chr11:19209731 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_003476.4(CSRP3):c.572delA (p.Lys192Argfs) deletion Cardiovascular phenotype [RCV000251024] Chr11:19182683 [GRCh38]
Chr11:19204230 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.575del (p.Lys192fs) deletion Cardiovascular phenotype [RCV000250135]|not provided [RCV000522240] Chr11:19182680 [GRCh38]
Chr11:19204227 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*245T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000377203]|Hypertrophic cardiomyopathy 12 [RCV002487355] Chr11:19182425 [GRCh38]
Chr11:19203972 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*450T>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000288542]|not provided [RCV004705215] Chr11:19182220 [GRCh38]
Chr11:19203767 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.302C>T (p.Ser101Leu) single nucleotide variant Cardiomyopathy [RCV001170412]|Cardiovascular phenotype [RCV003298365]|Hypertrophic cardiomyopathy 12 [RCV000272966]|Hypertrophic cardiomyopathy 12 [RCV000795269]|not provided [RCV000479752] Chr11:19186328 [GRCh38]
Chr11:19207875 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-161delG deletion Dilated Cardiomyopathy, Dominant [RCV000308972]|Hypertrophic cardiomyopathy [RCV000365935] Chr11:19210493 [GRCh38]
Chr11:19232040 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.414+6A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000367513]|Hypertrophic cardiomyopathy 12 [RCV002520710] Chr11:19186210 [GRCh38]
Chr11:19207757 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-163A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000361767] Chr11:19210495 [GRCh38]
Chr11:19232042 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.-8602G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000387392]|Hypertrophic cardiomyopathy 12 [RCV002487356] Chr11:19210527 [GRCh38]
Chr11:19232074 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*629T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000262556]|not provided [RCV004718404] Chr11:19182041 [GRCh38]
Chr11:19203588 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_003476.4(CSRP3):c.-158A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000270163] Chr11:19210490 [GRCh38]
Chr11:19232037 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-182delT deletion Dilated Cardiomyopathy, Dominant [RCV000330351]|Hypertrophic cardiomyopathy [RCV000282330] Chr11:19210514 [GRCh38]
Chr11:19232061 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.122_123dup (p.Lys42fs) duplication not provided [RCV000338630] Chr11:19188293..19188294 [GRCh38]
Chr11:19209840..19209841 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_003476.4(CSRP3):c.-162delA deletion Dilated Cardiomyopathy, Dominant [RCV000323345]|Hypertrophic cardiomyopathy [RCV000265892] Chr11:19210494 [GRCh38]
Chr11:19232041 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*575T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000277854]|Hypertrophic cardiomyopathy 12 [RCV002487354] Chr11:19182095 [GRCh38]
Chr11:19203642 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*638T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000357142]|Hypertrophic cardiomyopathy 12 [RCV002487353] Chr11:19182032 [GRCh38]
Chr11:19203579 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.436C>T (p.Arg146Cys) single nucleotide variant Cardiomyopathy [RCV000769300]|Cardiovascular phenotype [RCV002329165]|Hypertrophic cardiomyopathy 12 [RCV001071683]|Hypertrophic cardiomyopathy [RCV003319200]|not provided [RCV000994581] Chr11:19185024 [GRCh38]
Chr11:19206571 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-157G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000404887] Chr11:19210489 [GRCh38]
Chr11:19232036 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-181delC deletion Dilated Cardiomyopathy, Dominant [RCV000374537]|Hypertrophic cardiomyopathy [RCV000317637] Chr11:19210513 [GRCh38]
Chr11:19232060 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*504A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000382868] Chr11:19182166 [GRCh38]
Chr11:19203713 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.537G>A (p.Thr179=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000336426]|Hypertrophic cardiomyopathy 12 [RCV000533591] Chr11:19182718 [GRCh38]
Chr11:19204265 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.208G>T (p.Gly70Trp) single nucleotide variant Cardiovascular phenotype [RCV000620585]|Hypertrophic cardiomyopathy 12 [RCV001855288]|not provided [RCV001529951] Chr11:19188209 [GRCh38]
Chr11:19209756 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-154_-153dupAG microsatellite Dilated Cardiomyopathy, Dominant [RCV000349931]|Hypertrophic cardiomyopathy [RCV000311463] Chr11:19210484..19210485 [GRCh38]
Chr11:19232031..19232032 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*159C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000342299]|Hypertrophic cardiomyopathy 12 [RCV002494952] Chr11:19182511 [GRCh38]
Chr11:19204058 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-11G>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000402871]|Hypertrophic cardiomyopathy 12 [RCV002056185] Chr11:19185056 [GRCh38]
Chr11:19206603 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.4(CSRP3):c.-252G>A single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000294848]|Hypertrophic cardiomyopathy [RCV000344946] Chr11:19210584 [GRCh38]
Chr11:19232131 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.230C>G (p.Ala77Gly) single nucleotide variant Cardiovascular phenotype [RCV003302885]|Hypertrophic cardiomyopathy 12 [RCV000548621]|Hypertrophic cardiomyopathy [RCV000853472]|not specified [RCV003155234] Chr11:19188187 [GRCh38]
Chr11:19209734 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.568G>T (p.Val190Leu) single nucleotide variant Cardiomyopathy [RCV000769294]|Cardiovascular phenotype [RCV002343176]|Hypertrophic cardiomyopathy 12 [RCV000806587]|Primary familial hypertrophic cardiomyopathy [RCV000624616]|not provided [RCV001553324] Chr11:19182687 [GRCh38]
Chr11:19204234 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.282-16C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002550745]|not specified [RCV001001068] Chr11:19186364 [GRCh38]
Chr11:19207911 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.300C>T (p.Arg100=) single nucleotide variant Cardiovascular phenotype [RCV002438489]|Hypertrophic cardiomyopathy 12 [RCV000555576] Chr11:19186330 [GRCh38]
Chr11:19207877 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.282G>T (p.Gln94His) single nucleotide variant not provided [RCV001545533]|not specified [RCV000412936] Chr11:19186348 [GRCh38]
Chr11:19207895 [GRCh37]
Chr11:11p15.1		 uncertain significance|no classifications from unflagged records
NM_003476.5(CSRP3):c.364C>T (p.Arg122Ter) single nucleotide variant Cardiomyopathy [RCV000769302]|Hypertrophic cardiomyopathy 12 [RCV001861413]|not provided [RCV000413421] Chr11:19186266 [GRCh38]
Chr11:19207813 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.5(CSRP3):c.216G>T (p.Gly72=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000536142] Chr11:19188201 [GRCh38]
Chr11:19209748 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1 copy number loss Aniridia 1 [RCV000420782] Chr11:18536224..31923308 [GRCh37]
Chr11:11p15.1-13		 pathogenic
NM_003476.5(CSRP3):c.-46C>T single nucleotide variant not specified [RCV000424016] Chr11:19201971 [GRCh38]
Chr11:19223518 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.3(CSRP3):c.-236G>C single nucleotide variant not specified [RCV000421405] Chr11:19202161 [GRCh38]
Chr11:19223708 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.174C>T (p.Cys58=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001058734]|not specified [RCV000418776] Chr11:19188243 [GRCh38]
Chr11:19209790 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.294G>A (p.Pro98=) single nucleotide variant CSRP3-related disorder [RCV004539818]|Cardiomyopathy [RCV001798804]|Cardiovascular phenotype [RCV002436276]|Hypertrophic cardiomyopathy 12 [RCV000538561]|not provided [RCV001723993]|not specified [RCV000425017] Chr11:19186336 [GRCh38]
Chr11:19207883 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.108C>T (p.His36=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003766419]|not specified [RCV000439429] Chr11:19192341 [GRCh38]
Chr11:19213888 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.252G>A (p.Thr84=) single nucleotide variant Cardiomyopathy [RCV001170414]|Cardiovascular phenotype [RCV002429428]|Hypertrophic cardiomyopathy 12 [RCV000541622]|not provided [RCV001704503]|not specified [RCV000432651] Chr11:19188165 [GRCh38]
Chr11:19209712 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.147C>A (p.Val49=) single nucleotide variant Cardiovascular phenotype [RCV003372709]|not specified [RCV000419863] Chr11:19188270 [GRCh38]
Chr11:19209817 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.-54G>T single nucleotide variant not specified [RCV000430023] Chr11:19201979 [GRCh38]
Chr11:19223526 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.-3A>C single nucleotide variant Cardiovascular phenotype [RCV002356544]|not specified [RCV000426831] Chr11:19192451 [GRCh38]
Chr11:19213998 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.3(CSRP3):c.-226G>A single nucleotide variant not specified [RCV000423545] Chr11:19202151 [GRCh38]
Chr11:19223698 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.141G>A (p.Thr47=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002064928]|not provided [RCV004707230]|not specified [RCV000444750] Chr11:19188276 [GRCh38]
Chr11:19209823 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.264C>T (p.Leu88=) single nucleotide variant Cardiovascular phenotype [RCV004022915]|Hypertrophic cardiomyopathy 12 [RCV000466513] Chr11:19188153 [GRCh38]
Chr11:19209700 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.175A>G (p.Lys59Glu) single nucleotide variant Cardiovascular phenotype [RCV002402417]|Hypertrophic cardiomyopathy 12 [RCV000525402]|not provided [RCV004691785] Chr11:19188242 [GRCh38]
Chr11:19209789 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.201C>A (p.Gly67=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001479059] Chr11:19188216 [GRCh38]
Chr11:19209763 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.50T>A (p.Val17Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000471088] Chr11:19192399 [GRCh38]
Chr11:19213946 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.-28-9T>A single nucleotide variant not specified [RCV000485217] Chr11:19192485 [GRCh38]
Chr11:19214032 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.22G>A (p.Ala8Thr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000464452]|not provided [RCV001591061] Chr11:19192427 [GRCh38]
Chr11:19213974 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.48C>T (p.Thr16=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000470024]|not provided [RCV003736779] Chr11:19192401 [GRCh38]
Chr11:19213948 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3 copy number gain See cases [RCV000511561] Chr11:230615..37698540 [GRCh37]
Chr11:11p15.5-12		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003476.5(CSRP3):c.3G>A (p.Met1Ile) single nucleotide variant Cardiovascular phenotype [RCV003296750] Chr11:19192446 [GRCh38]
Chr11:19213993 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.465G>A (p.Glu155=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002066516]|not provided [RCV001698404] Chr11:19184995 [GRCh38]
Chr11:19206542 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.40G>C (p.Glu14Gln) single nucleotide variant Cardiovascular phenotype [RCV002325314]|Hypertrophic cardiomyopathy 12 [RCV000653692] Chr11:19192409 [GRCh38]
Chr11:19213956 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.472A>G (p.Asn158Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000653693]|not provided [RCV001701432] Chr11:19184988 [GRCh38]
Chr11:19206535 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.532C>T (p.Pro178Ser) single nucleotide variant Cardiovascular phenotype [RCV004025912]|Hypertrophic cardiomyopathy 12 [RCV000653694] Chr11:19182723 [GRCh38]
Chr11:19204270 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.113T>C (p.Met38Thr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000653695] Chr11:19188304 [GRCh38]
Chr11:19209851 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.55del (p.His19fs) deletion Hypertrophic cardiomyopathy 12 [RCV000653696] Chr11:19192394 [GRCh38]
Chr11:19213941 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.373A>T (p.Lys125Ter) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000653697]|not provided [RCV000786288] Chr11:19186257 [GRCh38]
Chr11:19207804 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_003476.5(CSRP3):c.261T>C (p.His87=) single nucleotide variant Cardiomyopathy [RCV001798952]|Cardiovascular phenotype [RCV002440372]|Hypertrophic cardiomyopathy 12 [RCV001089090]|not specified [RCV002282294] Chr11:19188156 [GRCh38]
Chr11:19209703 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.411C>A (p.Gly137=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000653701] Chr11:19186219 [GRCh38]
Chr11:19207766 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.49G>A (p.Val17Ile) single nucleotide variant CSRP3-related disorder [RCV004533264]|Cardiovascular phenotype [RCV002334020]|Hypertrophic cardiomyopathy 12 [RCV000793526]|not provided [RCV001584429]|not specified [RCV000614107] Chr11:19192400 [GRCh38]
Chr11:19213947 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.508+17A>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003767670]|not specified [RCV000609025] Chr11:19184935 [GRCh38]
Chr11:19206482 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.190C>T (p.Arg64Cys) single nucleotide variant Cardiomyopathy [RCV001170938]|Cardiovascular phenotype [RCV000619588]|Hypertrophic cardiomyopathy 1 [RCV001256874]|Hypertrophic cardiomyopathy 12 [RCV000687913]|not provided [RCV001756016] Chr11:19188227 [GRCh38]
Chr11:19209774 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.255C>T (p.Gly85=) single nucleotide variant Cardiovascular phenotype [RCV000619740]|Hypertrophic cardiomyopathy 12 [RCV000653698]|not provided [RCV000786287]|not specified [RCV003323643] Chr11:19188162 [GRCh38]
Chr11:19209709 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-70C>T single nucleotide variant not specified [RCV000603470] Chr11:19201995 [GRCh38]
Chr11:19223542 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.21C>T (p.Gly7=) single nucleotide variant Cardiovascular phenotype [RCV000619361]|Hypertrophic cardiomyopathy 12 [RCV000866561]|not provided [RCV001697536] Chr11:19192428 [GRCh38]
Chr11:19213975 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3 copy number gain See cases [RCV000512225] Chr11:230615..25584362 [GRCh37]
Chr11:11p15.5-14.3		 pathogenic
NM_003476.5(CSRP3):c.509-16C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002529677]|not specified [RCV000603879] Chr11:19182762 [GRCh38]
Chr11:19204309 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.282-16C>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002531558]|not specified [RCV000605666] Chr11:19186364 [GRCh38]
Chr11:19207911 [GRCh37]
Chr11:11p15.1		 likely benign
GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3 copy number gain See cases [RCV000512477] Chr11:230615..31995219 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_003476.5(CSRP3):c.10_11del (p.Trp4fs) deletion Cardiomyopathy [RCV001798929]|Cardiovascular phenotype [RCV000617245]|Hypertrophic cardiomyopathy 12 [RCV004771482] Chr11:19192438..19192439 [GRCh38]
Chr11:19213985..19213986 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.46A>T (p.Thr16Ser) single nucleotide variant Primary dilated cardiomyopathy [RCV000710022] Chr11:19192403 [GRCh38]
Chr11:19213950 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.96G>A (p.Lys32=) single nucleotide variant Primary dilated cardiomyopathy [RCV000710023] Chr11:19192353 [GRCh38]
Chr11:19213900 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.420G>C (p.Trp140Cys) single nucleotide variant Primary dilated cardiomyopathy [RCV000710027] Chr11:19185040 [GRCh38]
Chr11:19206587 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_003476.5(CSRP3):c.29G>A (p.Cys10Tyr) single nucleotide variant Cardiovascular phenotype [RCV002440492]|Hypertrophic cardiomyopathy 12 [RCV000698091] Chr11:19192420 [GRCh38]
Chr11:19213967 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.32G>A (p.Gly11Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000685705] Chr11:19192417 [GRCh38]
Chr11:19213964 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.354G>A (p.Glu118=) single nucleotide variant Primary dilated cardiomyopathy [RCV000710026] Chr11:19186276 [GRCh38]
Chr11:19207823 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.508+2T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000691436] Chr11:19184950 [GRCh38]
Chr11:19206497 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.367T>C (p.Cys123Arg) single nucleotide variant Cardiovascular phenotype [RCV002343539]|Hypertrophic cardiomyopathy 12 [RCV000701755] Chr11:19186263 [GRCh38]
Chr11:19207810 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.181T>C (p.Cys61Arg) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000707101] Chr11:19188236 [GRCh38]
Chr11:19209783 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.109T>G (p.Cys37Gly) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000694326] Chr11:19192340 [GRCh38]
Chr11:19213887 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.542T>C (p.Ile181Thr) single nucleotide variant Cardiovascular phenotype [RCV004026641]|Hypertrophic cardiomyopathy 12 [RCV000703771] Chr11:19182713 [GRCh38]
Chr11:19204260 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.583T>A (p.Ter195Arg) single nucleotide variant CSRP3-related disorder [RCV000779054]|Cardiovascular phenotype [RCV002352293]|Hypertrophic cardiomyopathy 12 [RCV003768439] Chr11:19182672 [GRCh38]
Chr11:19204219 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.191G>T (p.Arg64Leu) single nucleotide variant Hypertrophic cardiomyopathy [RCV000768502] Chr11:19188226 [GRCh38]
Chr11:19209773 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.497T>G (p.Leu166Arg) single nucleotide variant Cardiomyopathy [RCV000769297] Chr11:19184963 [GRCh38]
Chr11:19206510 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.264C>A (p.Leu88=) single nucleotide variant Cardiomyopathy [RCV000769305]|Cardiovascular phenotype [RCV003353018]|Hypertrophic cardiomyopathy 12 [RCV001467538] Chr11:19188153 [GRCh38]
Chr11:19209700 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met) single nucleotide variant Cardiovascular phenotype [RCV004039211]|Hypertrophic cardiomyopathy 12 [RCV001882579]|not provided [RCV001530023] Chr11:19192351 [GRCh38]
Chr11:19213898 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_003476.5(CSRP3):c.508+113del deletion not provided [RCV001530863] Chr11:19184839 [GRCh38]
Chr11:19206386 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.414+264A>G single nucleotide variant not provided [RCV001547285] Chr11:19185952 [GRCh38]
Chr11:19207499 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.123G>A (p.Arg41=) single nucleotide variant Cardiovascular phenotype [RCV004609571]|Hypertrophic cardiomyopathy 12 [RCV001442192] Chr11:19188294 [GRCh38]
Chr11:19209841 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.228C>T (p.Gly76=) single nucleotide variant Cardiovascular phenotype [RCV002451294]|Hypertrophic cardiomyopathy 12 [RCV001068132] Chr11:19188189 [GRCh38]
Chr11:19209736 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.282-214T>G single nucleotide variant not provided [RCV001570636] Chr11:19186562 [GRCh38]
Chr11:19208109 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.99G>A (p.Thr33=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001493465] Chr11:19192350 [GRCh38]
Chr11:19213897 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.351C>T (p.Ser117=) single nucleotide variant CSRP3-related disorder [RCV004533572]|Cardiomyopathy [RCV001170410]|Cardiovascular phenotype [RCV002454107]|Hypertrophic cardiomyopathy 12 [RCV000927711] Chr11:19186279 [GRCh38]
Chr11:19207826 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.445A>T (p.Ile149Phe) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001049398] Chr11:19185015 [GRCh38]
Chr11:19206562 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.369T>A (p.Cys123Ter) single nucleotide variant Cardiovascular phenotype [RCV002354984]|Hypertrophic cardiomyopathy 12 [RCV001037848]|not provided [RCV001784576] Chr11:19186261 [GRCh38]
Chr11:19207808 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.362del (p.Pro121fs) deletion Cardiomyopathy [RCV000769303]|Hypertrophic cardiomyopathy 12 [RCV001855723]|not provided [RCV003313144] Chr11:19186268 [GRCh38]
Chr11:19207815 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.258G>A (p.Glu86=) single nucleotide variant Cardiovascular phenotype [RCV002427337]|Hypertrophic cardiomyopathy 12 [RCV001393175] Chr11:19188159 [GRCh38]
Chr11:19209706 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.382T>C (p.Tyr128His) single nucleotide variant Cardiomyopathy [RCV000769301] Chr11:19186248 [GRCh38]
Chr11:19207795 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.509-7T>G single nucleotide variant Cardiomyopathy [RCV000769296] Chr11:19182753 [GRCh38]
Chr11:19204300 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.90C>T (p.Phe30=) single nucleotide variant Cardiomyopathy [RCV000770314]|Hypertrophic cardiomyopathy 12 [RCV002067217] Chr11:19192359 [GRCh38]
Chr11:19213906 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.223C>G (p.Gln75Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000814002] Chr11:19188194 [GRCh38]
Chr11:19209741 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.509-110T>C single nucleotide variant not provided [RCV000831775] Chr11:19182856 [GRCh38]
Chr11:19204403 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.113-232G>A single nucleotide variant not provided [RCV000838063] Chr11:19188536 [GRCh38]
Chr11:19210083 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.242G>A (p.Ser81Asn) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000816347] Chr11:19188175 [GRCh38]
Chr11:19209722 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.119G>A (p.Cys40Tyr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000821461] Chr11:19188298 [GRCh38]
Chr11:19209845 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-30T>C single nucleotide variant not provided [RCV000830535]|not specified [RCV001727803] Chr11:19185075 [GRCh38]
Chr11:19206622 [GRCh37]
Chr11:11p15.1		 benign|likely benign
GRCh37/hg19 11p15.1(chr11:18894624-19554521)x3 copy number gain not provided [RCV000849349] Chr11:18894624..19554521 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.52del (p.Tyr18fs) deletion Hypertrophic cardiomyopathy 12 [RCV000811964] Chr11:19192397 [GRCh38]
Chr11:19213944 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-96G>A single nucleotide variant not provided [RCV000834670] Chr11:19185141 [GRCh38]
Chr11:19206688 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.509-201C>T single nucleotide variant not provided [RCV000834996] Chr11:19182947 [GRCh38]
Chr11:19204494 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.112+126T>C single nucleotide variant not provided [RCV000831738] Chr11:19192211 [GRCh38]
Chr11:19213758 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.113-92C>T single nucleotide variant not provided [RCV000831739] Chr11:19188396 [GRCh38]
Chr11:19209943 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.110del (p.Cys37fs) deletion not provided [RCV000788768] Chr11:19192339 [GRCh38]
Chr11:19213886 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.17G>A (p.Gly6Glu) single nucleotide variant Cardiomyopathy [RCV001170941]|Hypertrophic cardiomyopathy 12 [RCV001065389] Chr11:19192432 [GRCh38]
Chr11:19213979 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.283T>G (p.Ser95Ala) single nucleotide variant Cardiovascular phenotype [RCV002440660]|Hypertrophic cardiomyopathy 12 [RCV000798742]|not provided [RCV001766653] Chr11:19186347 [GRCh38]
Chr11:19207894 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.112+278T>C single nucleotide variant not provided [RCV000843600] Chr11:19192059 [GRCh38]
Chr11:19213606 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.112+341G>C single nucleotide variant not provided [RCV000843601] Chr11:19191996 [GRCh38]
Chr11:19213543 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.113-261C>T single nucleotide variant not provided [RCV000843603] Chr11:19188565 [GRCh38]
Chr11:19210112 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.282-269C>T single nucleotide variant not provided [RCV000828921] Chr11:19186617 [GRCh38]
Chr11:19208164 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.282-175G>T single nucleotide variant not provided [RCV000831231] Chr11:19186523 [GRCh38]
Chr11:19208070 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.113-3C>T single nucleotide variant not provided [RCV000788335] Chr11:19188307 [GRCh38]
Chr11:19209854 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.509-130C>T single nucleotide variant not provided [RCV000832269] Chr11:19182876 [GRCh38]
Chr11:19204423 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.508+73T>A single nucleotide variant not provided [RCV000830261] Chr11:19184879 [GRCh38]
Chr11:19206426 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.154C>T (p.His52Tyr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001856228]|not provided [RCV000788729] Chr11:19188263 [GRCh38]
Chr11:19209810 [GRCh37]
Chr11:11p15.1		 uncertain significance
GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3 copy number gain not provided [RCV001006372] Chr11:235934..33826995 [GRCh37]
Chr11:11p15.5-13		 pathogenic
NM_003476.5(CSRP3):c.209G>A (p.Gly70Glu) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000845326] Chr11:19188208 [GRCh38]
Chr11:19209755 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.409G>T (p.Gly137Cys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001222336] Chr11:19186221 [GRCh38]
Chr11:19207768 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.459T>A (p.Ser153Arg) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001237901] Chr11:19185001 [GRCh38]
Chr11:19206548 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.311C>T (p.Thr104Ile) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001237751] Chr11:19186319 [GRCh38]
Chr11:19207866 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.116C>G (p.Ala39Gly) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001243536] Chr11:19188301 [GRCh38]
Chr11:19209848 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.168C>G (p.Ile56Met) single nucleotide variant Cardiovascular phenotype [RCV003373043]|Hypertrophic cardiomyopathy 12 [RCV001215019] Chr11:19188249 [GRCh38]
Chr11:19209796 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.285C>A (p.Ser95=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001236103] Chr11:19186345 [GRCh38]
Chr11:19207892 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.82A>G (p.Arg28Gly) single nucleotide variant not provided [RCV003231754] Chr11:19192367 [GRCh38]
Chr11:19213914 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-1G>T single nucleotide variant Cardiovascular phenotype [RCV002329681]|Hypertrophic cardiomyopathy 12 [RCV001882679]|not provided [RCV001571457] Chr11:19185046 [GRCh38]
Chr11:19206593 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.95A>G (p.Lys32Arg) single nucleotide variant not provided [RCV001552173] Chr11:19192354 [GRCh38]
Chr11:19213901 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*174T>C single nucleotide variant not provided [RCV001588566] Chr11:19182496 [GRCh38]
Chr11:19204043 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.10:g.19202157C>T single nucleotide variant not provided [RCV001671349] Chr11:19202157 [GRCh38]
Chr11:19223704 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.113-39T>C single nucleotide variant not provided [RCV001561870] Chr11:19188343 [GRCh38]
Chr11:19209890 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.10:g.19202232G>A single nucleotide variant not provided [RCV001656615] Chr11:19202232 [GRCh38]
Chr11:19223779 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.538G>T (p.Gly180Cys) single nucleotide variant Cardiovascular phenotype [RCV004027663]|Hypertrophic cardiomyopathy 12 [RCV000866025]|Hypertrophic cardiomyopathy 12 [RCV002470997] Chr11:19182717 [GRCh38]
Chr11:19204264 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.255C>A (p.Gly85=) single nucleotide variant Cardiovascular phenotype [RCV002427310]|Hypertrophic cardiomyopathy 12 [RCV001483838] Chr11:19188162 [GRCh38]
Chr11:19209709 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.265G>T (p.Gly89Cys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001231872]|not provided [RCV001724271] Chr11:19188152 [GRCh38]
Chr11:19209699 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.214G>T (p.Gly72Trp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001107935] Chr11:19188203 [GRCh38]
Chr11:19209750 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.127G>T (p.Ala43Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001036949] Chr11:19188290 [GRCh38]
Chr11:19209837 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*292A>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001104522] Chr11:19182378 [GRCh38]
Chr11:19203925 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.284C>T (p.Ser95Phe) single nucleotide variant Cardiovascular phenotype [RCV003160580]|Hypertrophic cardiomyopathy 12 [RCV001070538] Chr11:19186346 [GRCh38]
Chr11:19207893 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.210G>A (p.Gly70=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV000935881] Chr11:19188207 [GRCh38]
Chr11:19209754 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.112+245T>G single nucleotide variant not provided [RCV001576977] Chr11:19192092 [GRCh38]
Chr11:19213639 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.583T>C (p.Ter195Arg) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002466941] Chr11:19182672 [GRCh38]
Chr11:19204219 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.509-215T>C single nucleotide variant not provided [RCV001608423] Chr11:19182961 [GRCh38]
Chr11:19204508 [GRCh37]
Chr11:11p15.1		 benign
NM_003476.5(CSRP3):c.415-1G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001035131] Chr11:19185046 [GRCh38]
Chr11:19206593 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.518C>T (p.Ala173Val) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001044936] Chr11:19182737 [GRCh38]
Chr11:19204284 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.414+1G>T single nucleotide variant Cardiomyopathy [RCV001170409]|Cardiovascular phenotype [RCV004032921]|Hypertrophic cardiomyopathy 12 [RCV003769837] Chr11:19186215 [GRCh38]
Chr11:19207762 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.221G>A (p.Gly74Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001107934] Chr11:19188196 [GRCh38]
Chr11:19209743 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.4(CSRP3):c.-211C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001102703] Chr11:19210543 [GRCh38]
Chr11:19232090 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.282-147C>T single nucleotide variant not provided [RCV001684148] Chr11:19186495 [GRCh38]
Chr11:19208042 [GRCh37]
Chr11:11p15.1		 benign
GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3 copy number gain not provided [RCV001006387] Chr11:11053978..34732891 [GRCh37]
Chr11:11p15.3-13		 pathogenic
GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3 copy number gain not provided [RCV001006388] Chr11:13970757..27565888 [GRCh37]
Chr11:11p15.2-14.1		 pathogenic
NC_000011.10:g.(?_19184942)_(19188314_?)del deletion Hypertrophic cardiomyopathy 12 [RCV001032408] Chr11:19206489..19209861 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.298C>T (p.Arg100Cys) single nucleotide variant Cardiomyopathy [RCV001799036]|Cardiovascular phenotype [RCV002436620]|Hypertrophic cardiomyopathy 12 [RCV001056154]|not provided [RCV002511024] Chr11:19186332 [GRCh38]
Chr11:19207879 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.128del (p.Ala43fs) deletion Hypertrophic cardiomyopathy 12 [RCV001050650]|not provided [RCV001759781] Chr11:19188289 [GRCh38]
Chr11:19209836 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.457_458del (p.Leu154fs) microsatellite Cardiomyopathy [RCV001799037]|Cardiovascular phenotype [RCV002339302]|Hypertrophic cardiomyopathy 12 [RCV001061314] Chr11:19185002..19185003 [GRCh38]
Chr11:19206549..19206550 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.149C>A (p.Ala50Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001203484]|not provided [RCV001550926] Chr11:19188268 [GRCh38]
Chr11:19209815 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*559G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001104520]|Hypertrophic cardiomyopathy 12 [RCV002497513] Chr11:19182111 [GRCh38]
Chr11:19203658 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.*415A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001104521]|Hypertrophic cardiomyopathy 12 [RCV002480475] Chr11:19182255 [GRCh38]
Chr11:19203802 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.286C>T (p.Pro96Ser) single nucleotide variant Cardiovascular phenotype [RCV004030530]|Hypertrophic cardiomyopathy 12 [RCV001064286] Chr11:19186344 [GRCh38]
Chr11:19207891 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.-28-17G>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001195799] Chr11:19192493 [GRCh38]
Chr11:19214040 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.282-15G>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001107932] Chr11:19186363 [GRCh38]
Chr11:19207910 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.514T>C (p.Tyr172His) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001037737] Chr11:19182741 [GRCh38]
Chr11:19204288 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.149C>T (p.Ala50Val) single nucleotide variant Cardiovascular phenotype [RCV002393586]|Hypertrophic cardiomyopathy 12 [RCV001233724]|not provided [RCV004778020] Chr11:19188268 [GRCh38]
Chr11:19209815 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.111C>A (p.Cys37Ter) single nucleotide variant Cardiomyopathy [RCV001170940]|Hypertrophic cardiomyopathy 12 [RCV001325848] Chr11:19192338 [GRCh38]
Chr11:19213885 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.511T>G (p.Cys171Gly) single nucleotide variant Cardiomyopathy [RCV001799056]|Hypertrophic cardiomyopathy [RCV001254735] Chr11:19182744 [GRCh38]
Chr11:19204291 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.319C>A (p.Pro107Thr) single nucleotide variant Hypertrophic cardiomyopathy 1 [RCV001256875]|Hypertrophic cardiomyopathy 12 [RCV002570610] Chr11:19186311 [GRCh38]
Chr11:19207858 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.332C>G (p.Thr111Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001349811] Chr11:19186298 [GRCh38]
Chr11:19207845 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.483dup (p.Lys162fs) duplication Hypertrophic cardiomyopathy 1 [RCV001256873] Chr11:19184976..19184977 [GRCh38]
Chr11:19206523..19206524 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.76A>G (p.Asn26Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001879973]|Hypertrophic cardiomyopathy [RCV001293157] Chr11:19192373 [GRCh38]
Chr11:19213920 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NC_000011.9:g.(?_17552691)_(19213995_?)dup duplication Progressive myoclonic epilepsy type 7 [RCV001295201] Chr11:17552691..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.434T>G (p.Phe145Cys) single nucleotide variant Hypertrophic cardiomyopathy [RCV001283727] Chr11:19185026 [GRCh38]
Chr11:19206573 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.287C>T (p.Pro96Leu) single nucleotide variant Cardiovascular phenotype [RCV002438760]|Hypertrophic cardiomyopathy 12 [RCV001331057]|Hypertrophic cardiomyopathy 12 [RCV002546441] Chr11:19186343 [GRCh38]
Chr11:19207890 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.377C>G (p.Ser126Ter) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001305556] Chr11:19186253 [GRCh38]
Chr11:19207800 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_003476.5(CSRP3):c.415-2A>C single nucleotide variant Cardiovascular phenotype [RCV002333251]|Hypertrophic cardiomyopathy 12 [RCV003094549] Chr11:19185047 [GRCh38]
Chr11:19206594 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.300C>G (p.Arg100=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001352163] Chr11:19186330 [GRCh38]
Chr11:19207877 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.293C>T (p.Pro98Leu) single nucleotide variant Cardiomyopathy [RCV001799300]|Cardiovascular phenotype [RCV004040866]|Hypertrophic cardiomyopathy 12 [RCV002544360] Chr11:19186337 [GRCh38]
Chr11:19207884 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.196T>A (p.Tyr66Asn) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001349980] Chr11:19188221 [GRCh38]
Chr11:19209768 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.214G>A (p.Gly72Arg) single nucleotide variant Cardiovascular phenotype [RCV002432025]|Hypertrophic cardiomyopathy 12 [RCV001364005]|not provided [RCV003136029] Chr11:19188203 [GRCh38]
Chr11:19209750 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.72del (p.Gln24fs) deletion Hypertrophic cardiomyopathy 12 [RCV001308738] Chr11:19192377 [GRCh38]
Chr11:19213924 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.143C>T (p.Thr48Ile) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001342366] Chr11:19188274 [GRCh38]
Chr11:19209821 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.358T>C (p.Cys120Arg) single nucleotide variant Cardiovascular phenotype [RCV004037525]|Hypertrophic cardiomyopathy 12 [RCV001372235] Chr11:19186272 [GRCh38]
Chr11:19207819 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.229G>A (p.Ala77Thr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001363636] Chr11:19188188 [GRCh38]
Chr11:19209735 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.75C>G (p.Cys25Trp) single nucleotide variant not provided [RCV001311741] Chr11:19192374 [GRCh38]
Chr11:19213921 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.198T>C (p.Tyr66=) single nucleotide variant Cardiovascular phenotype [RCV002420924]|Hypertrophic cardiomyopathy 12 [RCV001412566] Chr11:19188219 [GRCh38]
Chr11:19209766 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.335C>T (p.Ala112Val) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001367133] Chr11:19186295 [GRCh38]
Chr11:19207842 [GRCh37]
Chr11:11p15.1		 uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3		 pathogenic
NM_003476.5(CSRP3):c.49_55del (p.Val17fs) deletion Hypertrophic cardiomyopathy 12 [RCV001306690] Chr11:19192394..19192400 [GRCh38]
Chr11:19213941..19213947 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.15C>T (p.Gly5=) single nucleotide variant Cardiovascular phenotype [RCV003160987]|Hypertrophic cardiomyopathy 12 [RCV001492196] Chr11:19192434 [GRCh38]
Chr11:19213981 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.431G>A (p.Cys144Tyr) single nucleotide variant not provided [RCV001508307] Chr11:19185029 [GRCh38]
Chr11:19206576 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.348G>A (p.Glu116=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001394182] Chr11:19186282 [GRCh38]
Chr11:19207829 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.480T>C (p.Thr160=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001504374] Chr11:19184980 [GRCh38]
Chr11:19206527 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.513C>T (p.Cys171=) single nucleotide variant Cardiovascular phenotype [RCV002350859]|Hypertrophic cardiomyopathy 12 [RCV001436215] Chr11:19182742 [GRCh38]
Chr11:19204289 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) deletion Cardiovascular phenotype [RCV002440839]|Hypertrophic cardiomyopathy 12 [RCV001868384]|not provided [RCV001700909] Chr11:19186343..19186344 [GRCh38]
Chr11:19207890..19207891 [GRCh37]
Chr11:11p15.1		 pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_003476.5(CSRP3):c.112+9G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001470413] Chr11:19192328 [GRCh38]
Chr11:19213875 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.327A>G (p.Lys109=) single nucleotide variant Cardiovascular phenotype [RCV004037923]|Hypertrophic cardiomyopathy 12 [RCV001513699]|not specified [RCV003987872] Chr11:19186303 [GRCh38]
Chr11:19207850 [GRCh37]
Chr11:11p15.1		 benign|likely benign
NM_003476.5(CSRP3):c.36C>T (p.Ala12=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001407108] Chr11:19192413 [GRCh38]
Chr11:19213960 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.164A>G (p.Glu55Gly) single nucleotide variant not provided [RCV001754944] Chr11:19188253 [GRCh38]
Chr11:19209800 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.467C>T (p.Ser156Phe) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002032796]|not provided [RCV001758261] Chr11:19184993 [GRCh38]
Chr11:19206540 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.280C>G (p.Gln94Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003771901]|not provided [RCV001754133] Chr11:19188137 [GRCh38]
Chr11:19209684 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.543del (p.Ile181fs) deletion not provided [RCV001765160] Chr11:19182712 [GRCh38]
Chr11:19204259 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.532C>G (p.Pro178Ala) single nucleotide variant Cardiovascular phenotype [RCV002343818]|not provided [RCV001768894] Chr11:19182723 [GRCh38]
Chr11:19204270 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV001780888] Chr11:19192447 [GRCh38]
Chr11:19213994 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.185A>G (p.Tyr62Cys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001808867] Chr11:19188232 [GRCh38]
Chr11:19209779 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.526T>G (p.Phe176Val) single nucleotide variant Cardiomyopathy [RCV001799301]|not provided [RCV004774465] Chr11:19182729 [GRCh38]
Chr11:19204276 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.50_51insGCAGATTTCTT (p.Tyr18fs) insertion Hypertrophic cardiomyopathy 12 [RCV001885178]|not provided [RCV001780887] Chr11:19192398..19192399 [GRCh38]
Chr11:19213945..19213946 [GRCh37]
Chr11:11p15.1		 pathogenic|likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.44del (p.Lys15fs) deletion not provided [RCV001780889] Chr11:19192405 [GRCh38]
Chr11:19213952 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.576G>C (p.Lys192Asn) single nucleotide variant Cardiovascular phenotype [RCV002359378]|Hypertrophic cardiomyopathy 12 [RCV001915047]|not provided [RCV004693906] Chr11:19182679 [GRCh38]
Chr11:19204226 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18420958)_(19213995_?)dup duplication Hypertrophic cardiomyopathy 12 [RCV001896615] Chr11:18420958..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.403G>A (p.Gly135Arg) single nucleotide variant Cardiovascular phenotype [RCV003167409]|Hypertrophic cardiomyopathy 12 [RCV001965098] Chr11:19186227 [GRCh38]
Chr11:19207774 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.439T>C (p.Cys147Arg) single nucleotide variant Cardiovascular phenotype [RCV003375561]|Hypertrophic cardiomyopathy 12 [RCV002024480] Chr11:19185021 [GRCh38]
Chr11:19206568 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.354G>T (p.Glu118Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001947624] Chr11:19186276 [GRCh38]
Chr11:19207823 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.88T>C (p.Phe30Leu) single nucleotide variant Cardiovascular phenotype [RCV003375439]|Hypertrophic cardiomyopathy 12 [RCV001945394]|Hypertrophic cardiomyopathy [RCV004764975]|not provided [RCV004762246] Chr11:19192361 [GRCh38]
Chr11:19213908 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.562C>G (p.Gln188Glu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002021463] Chr11:19182693 [GRCh38]
Chr11:19204240 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.278A>C (p.Gln93Pro) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001894583] Chr11:19188139 [GRCh38]
Chr11:19209686 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-9G>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001970202] Chr11:19185054 [GRCh38]
Chr11:19206601 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.267C>T (p.Gly89=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001895133] Chr11:19188150 [GRCh38]
Chr11:19209697 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.37T>C (p.Cys13Arg) single nucleotide variant Cardiovascular phenotype [RCV002361158]|Hypertrophic cardiomyopathy 12 [RCV001890517] Chr11:19192412 [GRCh38]
Chr11:19213959 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.165del (p.Ile56fs) deletion Hypertrophic cardiomyopathy 12 [RCV001964172] Chr11:19188252 [GRCh38]
Chr11:19209799 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.238C>T (p.Leu80Phe) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001944026] Chr11:19188179 [GRCh38]
Chr11:19209726 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.335C>G (p.Ala112Gly) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002037102] Chr11:19186295 [GRCh38]
Chr11:19207842 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.159G>C (p.Glu53Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001982529] Chr11:19188258 [GRCh38]
Chr11:19209805 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.143C>A (p.Thr48Lys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001976617] Chr11:19188274 [GRCh38]
Chr11:19209821 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.468del (p.Thr157fs) deletion Hypertrophic cardiomyopathy 12 [RCV002030703] Chr11:19184992 [GRCh38]
Chr11:19206539 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.443C>T (p.Ala148Val) single nucleotide variant Cardiovascular phenotype [RCV004044225]|Hypertrophic cardiomyopathy 12 [RCV001921455] Chr11:19185017 [GRCh38]
Chr11:19206564 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.329del (p.Phe110fs) deletion Cardiovascular phenotype [RCV002458708]|Hypertrophic cardiomyopathy 12 [RCV001881275] Chr11:19186301 [GRCh38]
Chr11:19207848 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_19207743)_(19213995_?)del deletion Hypertrophic cardiomyopathy 12 [RCV001918686] Chr11:19207743..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.386C>G (p.Ala129Gly) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001996376] Chr11:19186244 [GRCh38]
Chr11:19207791 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.28T>C (p.Cys10Arg) single nucleotide variant Cardiovascular phenotype [RCV004045456]|Hypertrophic cardiomyopathy 12 [RCV001989598] Chr11:19192421 [GRCh38]
Chr11:19213968 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.490G>A (p.Gly164Arg) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001995752] Chr11:19184970 [GRCh38]
Chr11:19206517 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.73T>A (p.Cys25Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001907411] Chr11:19192376 [GRCh38]
Chr11:19213923 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_19206489)_(19207905_?)del deletion Hypertrophic cardiomyopathy 12 [RCV001920305] Chr11:19206489..19207905 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.524A>G (p.Asn175Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001904134] Chr11:19182731 [GRCh38]
Chr11:19204278 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.109T>C (p.Cys37Arg) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001973894]|not provided [RCV004591677] Chr11:19192340 [GRCh38]
Chr11:19213887 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-7_415-6delinsTA indel Hypertrophic cardiomyopathy 12 [RCV001975913] Chr11:19185051..19185052 [GRCh38]
Chr11:19206598..19206599 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.14G>A (p.Gly5Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV001935259] Chr11:19192435 [GRCh38]
Chr11:19213982 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.82_85del (p.Arg28fs) deletion Hypertrophic cardiomyopathy 12 [RCV001931050] Chr11:19192364..19192367 [GRCh38]
Chr11:19213911..19213914 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.508+17A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002076078] Chr11:19184935 [GRCh38]
Chr11:19206482 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.509-5C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002209853] Chr11:19182751 [GRCh38]
Chr11:19204298 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.381C>A (p.Val127=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002190698] Chr11:19186249 [GRCh38]
Chr11:19207796 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.551G>A (p.Gly184Glu) single nucleotide variant Cardiovascular phenotype [RCV004047209]|not provided [RCV002224378] Chr11:19182704 [GRCh38]
Chr11:19204251 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.201C>T (p.Gly67=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002110887] Chr11:19188216 [GRCh38]
Chr11:19209763 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.424A>G (p.Lys142Glu) single nucleotide variant Cardiovascular phenotype [RCV002331848]|Hypertrophic cardiomyopathy 12 [RCV003101282]|not provided [RCV002223718] Chr11:19185036 [GRCh38]
Chr11:19206583 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.339G>A (p.Lys113=) single nucleotide variant Cardiovascular phenotype [RCV002454480]|Hypertrophic cardiomyopathy 12 [RCV002152399] Chr11:19186291 [GRCh38]
Chr11:19207838 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.89T>C (p.Phe30Ser) single nucleotide variant not provided [RCV002224491] Chr11:19192360 [GRCh38]
Chr11:19213907 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.414+16T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002134377] Chr11:19186200 [GRCh38]
Chr11:19207747 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.415-16T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002215883] Chr11:19185061 [GRCh38]
Chr11:19206608 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.279A>G (p.Gln93=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002085267] Chr11:19188138 [GRCh38]
Chr11:19209685 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.309C>G (p.Thr103=) single nucleotide variant Cardiovascular phenotype [RCV002325688]|Hypertrophic cardiomyopathy 12 [RCV002161546] Chr11:19186321 [GRCh38]
Chr11:19207868 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.147C>T (p.Val49=) single nucleotide variant Cardiovascular phenotype [RCV002391227]|Hypertrophic cardiomyopathy 12 [RCV002100142] Chr11:19188270 [GRCh38]
Chr11:19209817 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.509-8A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002102323] Chr11:19182754 [GRCh38]
Chr11:19204301 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.501T>C (p.Tyr167=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002102576] Chr11:19184959 [GRCh38]
Chr11:19206506 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.294G>C (p.Pro98=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002180470] Chr11:19186336 [GRCh38]
Chr11:19207883 [GRCh37]
Chr11:11p15.1		 likely benign
NC_000011.9:g.(?_18418390)_(19204313_?)del deletion Hypertrophic cardiomyopathy 12 [RCV003113264] Chr11:18418390..19204313 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_19204217)_(19209871_?)del deletion Hypertrophic cardiomyopathy 12 [RCV003113265] Chr11:19204217..19209871 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.281+3G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003121382] Chr11:19188133 [GRCh38]
Chr11:19209680 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.78T>C (p.Asn26=) single nucleotide variant Cardiovascular phenotype [RCV003296752] Chr11:19192371 [GRCh38]
Chr11:19213918 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.156T>A (p.His52Gln) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003096166]|not provided [RCV002273641] Chr11:19188261 [GRCh38]
Chr11:19209808 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.282-1G>A single nucleotide variant Cardiomyopathy [RCV002282800] Chr11:19186349 [GRCh38]
Chr11:19207896 [GRCh37]
Chr11:11p15.1		 likely pathogenic
GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3 copy number gain See cases [RCV002286351] Chr11:230615..26881146 [GRCh37]
Chr11:11p15.5-14.2		 pathogenic
NM_003476.5(CSRP3):c.541A>G (p.Ile181Val) single nucleotide variant Cardiovascular phenotype [RCV002349462]|Hypertrophic cardiomyopathy 12 [RCV003776106] Chr11:19182714 [GRCh38]
Chr11:19204261 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.54C>T (p.Tyr18=) single nucleotide variant Cardiovascular phenotype [RCV002351631] Chr11:19192395 [GRCh38]
Chr11:19213942 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.372C>T (p.Gly124=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003128551] Chr11:19186258 [GRCh38]
Chr11:19207805 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.200G>A (p.Gly67Asp) single nucleotide variant Cardiovascular phenotype [RCV002417322] Chr11:19188217 [GRCh38]
Chr11:19209764 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.511T>C (p.Cys171Arg) single nucleotide variant Cardiovascular phenotype [RCV002344187] Chr11:19182744 [GRCh38]
Chr11:19204291 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.311C>A (p.Thr104Asn) single nucleotide variant Cardiovascular phenotype [RCV002320467] Chr11:19186319 [GRCh38]
Chr11:19207866 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.335C>A (p.Ala112Glu) single nucleotide variant Cardiovascular phenotype [RCV002321051]|Hypertrophic cardiomyopathy 12 [RCV003099425] Chr11:19186295 [GRCh38]
Chr11:19207842 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.209G>T (p.Gly70Val) single nucleotide variant Cardiovascular phenotype [RCV002424178] Chr11:19188208 [GRCh38]
Chr11:19209755 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.572A>T (p.Glu191Val) single nucleotide variant Cardiovascular phenotype [RCV002347715] Chr11:19182683 [GRCh38]
Chr11:19204230 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.377C>A (p.Ser126Ter) single nucleotide variant Cardiovascular phenotype [RCV002363881]|Hypertrophic cardiomyopathy 12 [RCV003775729] Chr11:19186253 [GRCh38]
Chr11:19207800 [GRCh37]
Chr11:11p15.1		 pathogenic|uncertain significance
NM_003476.5(CSRP3):c.64G>T (p.Glu22Ter) single nucleotide variant Cardiovascular phenotype [RCV002356276] Chr11:19192385 [GRCh38]
Chr11:19213932 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.580G>C (p.Glu194Gln) single nucleotide variant Cardiovascular phenotype [RCV002353104]|Hypertrophic cardiomyopathy 12 [RCV003776161] Chr11:19182675 [GRCh38]
Chr11:19204222 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.582A>G (p.Glu194=) single nucleotide variant Cardiovascular phenotype [RCV002353193] Chr11:19182673 [GRCh38]
Chr11:19204220 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.240C>T (p.Leu80=) single nucleotide variant Cardiovascular phenotype [RCV002459715]|Hypertrophic cardiomyopathy 12 [RCV003775232] Chr11:19188177 [GRCh38]
Chr11:19209724 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.301T>A (p.Ser101Thr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002300325] Chr11:19186329 [GRCh38]
Chr11:19207876 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.259C>T (p.His87Tyr) single nucleotide variant Cardiovascular phenotype [RCV002426200] Chr11:19188158 [GRCh38]
Chr11:19209705 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.161C>T (p.Ser54Leu) single nucleotide variant Cardiovascular phenotype [RCV002401040] Chr11:19188256 [GRCh38]
Chr11:19209803 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.136A>T (p.Ser46Cys) single nucleotide variant Cardiovascular phenotype [RCV002383663] Chr11:19188281 [GRCh38]
Chr11:19209828 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.381C>T (p.Val127=) single nucleotide variant Cardiovascular phenotype [RCV002355308] Chr11:19186249 [GRCh38]
Chr11:19207796 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.324C>T (p.Ser108=) single nucleotide variant Cardiovascular phenotype [RCV002324872]|Hypertrophic cardiomyopathy 12 [RCV003775573]|not provided [RCV003156375] Chr11:19186306 [GRCh38]
Chr11:19207853 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.190C>A (p.Arg64Ser) single nucleotide variant Cardiovascular phenotype [RCV002408426]|Hypertrophic cardiomyopathy 12 [RCV003774556] Chr11:19188227 [GRCh38]
Chr11:19209774 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.455A>G (p.Lys152Arg) single nucleotide variant Cardiovascular phenotype [RCV002330365] Chr11:19185005 [GRCh38]
Chr11:19206552 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.4C>T (p.Pro2Ser) single nucleotide variant Cardiovascular phenotype [RCV002343042] Chr11:19192445 [GRCh38]
Chr11:19213992 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.120C>T (p.Cys40=) single nucleotide variant Cardiovascular phenotype [RCV002359897]|Hypertrophic cardiomyopathy 12 [RCV003096880] Chr11:19188297 [GRCh38]
Chr11:19209844 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.251C>G (p.Thr84Arg) single nucleotide variant Cardiovascular phenotype [RCV002433028] Chr11:19188166 [GRCh38]
Chr11:19209713 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.236G>C (p.Cys79Ser) single nucleotide variant Cardiovascular phenotype [RCV002450168]|Hypertrophic cardiomyopathy 12 [RCV003098829] Chr11:19188181 [GRCh38]
Chr11:19209728 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.163G>A (p.Glu55Lys) single nucleotide variant Cardiovascular phenotype [RCV002403529] Chr11:19188254 [GRCh38]
Chr11:19209801 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.359G>A (p.Cys120Tyr) single nucleotide variant not provided [RCV002511436] Chr11:19186271 [GRCh38]
Chr11:19207818 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.508+5G>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003033621] Chr11:19184947 [GRCh38]
Chr11:19206494 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.155A>C (p.His52Pro) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002947483] Chr11:19188262 [GRCh38]
Chr11:19209809 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.231T>C (p.Ala77=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002952981] Chr11:19188186 [GRCh38]
Chr11:19209733 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.51C>A (p.Val17=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002636329] Chr11:19192398 [GRCh38]
Chr11:19213945 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.133G>A (p.Asp45Asn) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003054638] Chr11:19188284 [GRCh38]
Chr11:19209831 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.240C>G (p.Leu80=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003036078] Chr11:19188177 [GRCh38]
Chr11:19209724 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.414+7C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002760929] Chr11:19186209 [GRCh38]
Chr11:19207756 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.553G>A (p.Gly185Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002824267] Chr11:19182702 [GRCh38]
Chr11:19204249 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.113-17C>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002645783] Chr11:19188321 [GRCh38]
Chr11:19209868 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.508+7G>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002790807] Chr11:19184945 [GRCh38]
Chr11:19206492 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.508+9_508+15dup duplication Hypertrophic cardiomyopathy 12 [RCV003023758] Chr11:19184936..19184937 [GRCh38]
Chr11:19206483..19206484 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.270G>C (p.Leu90=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002643414] Chr11:19188147 [GRCh38]
Chr11:19209694 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.516T>A (p.Tyr172Ter) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002700232] Chr11:19182739 [GRCh38]
Chr11:19204286 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.345A>G (p.Gly115=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003059617] Chr11:19186285 [GRCh38]
Chr11:19207832 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.370G>A (p.Gly124Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002626458] Chr11:19186260 [GRCh38]
Chr11:19207807 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.285C>T (p.Ser95=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003007609] Chr11:19186345 [GRCh38]
Chr11:19207892 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.377C>T (p.Ser126Leu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002595430] Chr11:19186253 [GRCh38]
Chr11:19207800 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.282-19A>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002700667] Chr11:19186367 [GRCh38]
Chr11:19207914 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.415-6C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002853323] Chr11:19185051 [GRCh38]
Chr11:19206598 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.415-10T>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003023695] Chr11:19185055 [GRCh38]
Chr11:19206602 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.273G>A (p.Gln91=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003065276] Chr11:19188144 [GRCh38]
Chr11:19209691 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.141G>T (p.Thr47=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003090918] Chr11:19188276 [GRCh38]
Chr11:19209823 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.415-3C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003063199] Chr11:19185048 [GRCh38]
Chr11:19206595 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.437G>T (p.Arg146Leu) single nucleotide variant Cardiovascular phenotype [RCV004614356]|Hypertrophic cardiomyopathy 12 [RCV003086620] Chr11:19185023 [GRCh38]
Chr11:19206570 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-11G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003060578] Chr11:19185056 [GRCh38]
Chr11:19206603 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.112+12G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003045358] Chr11:19192325 [GRCh38]
Chr11:19213872 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.5C>A (p.Pro2Gln) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV002943155] Chr11:19192444 [GRCh38]
Chr11:19213991 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.43A>G (p.Lys15Glu) single nucleotide variant Cardiovascular phenotype [RCV004072034]|Hypertrophic cardiomyopathy 12 [RCV002654713] Chr11:19192406 [GRCh38]
Chr11:19213953 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.282-15G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003072673] Chr11:19186363 [GRCh38]
Chr11:19207910 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.113-9T>C single nucleotide variant Cardiomyopathy [RCV003150746] Chr11:19188313 [GRCh38]
Chr11:19209860 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.72G>C (p.Gln24His) single nucleotide variant Cardiovascular phenotype [RCV003167980] Chr11:19192377 [GRCh38]
Chr11:19213924 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.397G>T (p.Val133Phe) single nucleotide variant not provided [RCV003143382] Chr11:19186233 [GRCh38]
Chr11:19207780 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.496C>G (p.Leu166Val) single nucleotide variant Cardiovascular phenotype [RCV003176575]|Hypertrophic cardiomyopathy 12 [RCV003778958]|not provided [RCV003235786] Chr11:19184964 [GRCh38]
Chr11:19206511 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.509-20C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003777358]|not specified [RCV003324471] Chr11:19182766 [GRCh38]
Chr11:19204313 [GRCh37]
Chr11:11p15.1		 likely benign|uncertain significance
NM_003476.5(CSRP3):c.118T>G (p.Cys40Gly) single nucleotide variant not specified [RCV003324470] Chr11:19188299 [GRCh38]
Chr11:19209846 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.299G>T (p.Arg100Leu) single nucleotide variant not provided [RCV003319823] Chr11:19186331 [GRCh38]
Chr11:19207878 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.458G>T (p.Ser153Ile) single nucleotide variant Cardiovascular phenotype [RCV003379882] Chr11:19185002 [GRCh38]
Chr11:19206549 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.357G>T (p.Lys119Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV003447917] Chr11:19186273 [GRCh38]
Chr11:19207820 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.266G>C (p.Gly89Ala) single nucleotide variant CSRP3-related disorder [RCV004527901] Chr11:19188151 [GRCh38]
Chr11:19209698 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.338A>C (p.Lys113Thr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003796977] Chr11:19186292 [GRCh38]
Chr11:19207839 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.391G>C (p.Glu131Gln) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003782847] Chr11:19186239 [GRCh38]
Chr11:19207786 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.113-20A>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003797018] Chr11:19188324 [GRCh38]
Chr11:19209871 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.298C>A (p.Arg100Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003791941] Chr11:19186332 [GRCh38]
Chr11:19207879 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.182G>A (p.Cys61Tyr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003807400] Chr11:19188235 [GRCh38]
Chr11:19209782 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.402G>A (p.Met134Ile) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003807651] Chr11:19186228 [GRCh38]
Chr11:19207775 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.460C>G (p.Leu154Val) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003793532] Chr11:19185000 [GRCh38]
Chr11:19206547 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.414+8C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003784606] Chr11:19186208 [GRCh38]
Chr11:19207755 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.126G>A (p.Lys42=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003794975] Chr11:19188291 [GRCh38]
Chr11:19209838 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.481G>C (p.Asp161His) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003781015] Chr11:19184979 [GRCh38]
Chr11:19206526 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.136A>G (p.Ser46Gly) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003791227] Chr11:19188281 [GRCh38]
Chr11:19209828 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.38G>A (p.Cys13Tyr) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003789448] Chr11:19192411 [GRCh38]
Chr11:19213958 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.222A>C (p.Gly74=) single nucleotide variant Cardiovascular phenotype [RCV004366545]|Hypertrophic cardiomyopathy 12 [RCV003781327] Chr11:19188195 [GRCh38]
Chr11:19209742 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.78T>G (p.Asn26Lys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003795972] Chr11:19192371 [GRCh38]
Chr11:19213918 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.481G>A (p.Asp161Asn) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003797272] Chr11:19184979 [GRCh38]
Chr11:19206526 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.284C>G (p.Ser95Cys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003807464] Chr11:19186346 [GRCh38]
Chr11:19207893 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.186T>G (p.Tyr62Ter) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003795538] Chr11:19188231 [GRCh38]
Chr11:19209778 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_003476.5(CSRP3):c.385G>T (p.Ala129Ser) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003796501] Chr11:19186245 [GRCh38]
Chr11:19207792 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.349T>C (p.Ser117Pro) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003792085] Chr11:19186281 [GRCh38]
Chr11:19207828 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.414+1G>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003804315] Chr11:19186215 [GRCh38]
Chr11:19207762 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.238C>G (p.Leu80Val) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003782045] Chr11:19188179 [GRCh38]
Chr11:19209726 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.35C>G (p.Ala12Gly) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003787598] Chr11:19192414 [GRCh38]
Chr11:19213961 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.415-18C>G single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003790707] Chr11:19185063 [GRCh38]
Chr11:19206610 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.156T>C (p.His52=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003782282] Chr11:19188261 [GRCh38]
Chr11:19209808 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.112+11T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003788841] Chr11:19192326 [GRCh38]
Chr11:19213873 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.414+7C>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003783155] Chr11:19186209 [GRCh38]
Chr11:19207756 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.113-17C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003781667] Chr11:19188321 [GRCh38]
Chr11:19209868 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.162G>T (p.Ser54=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003812964] Chr11:19188255 [GRCh38]
Chr11:19209802 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.479C>A (p.Thr160Asn) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003799766] Chr11:19184981 [GRCh38]
Chr11:19206528 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.55C>G (p.His19Asp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003798554] Chr11:19192394 [GRCh38]
Chr11:19213941 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.533C>T (p.Pro178Leu) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003799042] Chr11:19182722 [GRCh38]
Chr11:19204269 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.157G>A (p.Glu53Lys) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003810472] Chr11:19188260 [GRCh38]
Chr11:19209807 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.113-3C>A single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003799878]|Hypertrophic cardiomyopathy 12 [RCV004787034] Chr11:19188307 [GRCh38]
Chr11:19209854 [GRCh37]
Chr11:11p15.1		 likely pathogenic|uncertain significance
NM_003476.5(CSRP3):c.187G>T (p.Gly63Trp) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003803903] Chr11:19188230 [GRCh38]
Chr11:19209777 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.144A>C (p.Thr48=) single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003804011] Chr11:19188273 [GRCh38]
Chr11:19209820 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.279del (p.Gln93fs) deletion Hypertrophic cardiomyopathy 12 [RCV003802267] Chr11:19188138 [GRCh38]
Chr11:19209685 [GRCh37]
Chr11:11p15.1		 pathogenic
NM_003476.5(CSRP3):c.112+19C>T single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003802368] Chr11:19192318 [GRCh38]
Chr11:19213865 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.281+2T>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV003802908] Chr11:19188134 [GRCh38]
Chr11:19209681 [GRCh37]
Chr11:11p15.1		 likely pathogenic
NM_003476.5(CSRP3):c.112+4del deletion Cardiovascular phenotype [RCV004508734] Chr11:19192333 [GRCh38]
Chr11:19213880 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.180G>A (p.Val60=) single nucleotide variant Cardiovascular phenotype [RCV004508735] Chr11:19188237 [GRCh38]
Chr11:19209784 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.216G>A (p.Gly72=) single nucleotide variant Cardiovascular phenotype [RCV004508736] Chr11:19188201 [GRCh38]
Chr11:19209748 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.228C>A (p.Gly76=) single nucleotide variant Cardiovascular phenotype [RCV004508737] Chr11:19188189 [GRCh38]
Chr11:19209736 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.84G>A (p.Arg28=) single nucleotide variant Cardiovascular phenotype [RCV004508740] Chr11:19192365 [GRCh38]
Chr11:19213912 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.309C>T (p.Thr103=) single nucleotide variant Cardiovascular phenotype [RCV004508738] Chr11:19186321 [GRCh38]
Chr11:19207868 [GRCh37]
Chr11:11p15.1		 likely benign
NM_003476.5(CSRP3):c.423C>A (p.His141Gln) single nucleotide variant Cardiovascular phenotype [RCV004508739] Chr11:19185037 [GRCh38]
Chr11:19206584 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.64del (p.Glu22fs) deletion Hypertrophic cardiomyopathy 12 [RCV004577976] Chr11:19192385 [GRCh38]
Chr11:19213932 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.113-2A>C single nucleotide variant Hypertrophic cardiomyopathy 12 [RCV004594920] Chr11:19188306 [GRCh38]
Chr11:19209853 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_18418390)_(19213995_?)del deletion Hypertrophic cardiomyopathy 12 [RCV004580268] Chr11:18418390..19213995 [GRCh37]
Chr11:11p15.1		 pathogenic
NC_000011.9:g.(?_19206479)_(19207915_?)del deletion Hypertrophic cardiomyopathy 12 [RCV004580269] Chr11:19206479..19207915 [GRCh37]
Chr11:11p15.1		 uncertain significance
NC_000011.9:g.(?_19204217)_(19213995_?)dup duplication Hypertrophic cardiomyopathy 12 [RCV004580270] Chr11:19204217..19213995 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.472A>C (p.Asn158His) single nucleotide variant Cardiovascular phenotype [RCV004615736] Chr11:19184988 [GRCh38]
Chr11:19206535 [GRCh37]
Chr11:11p15.1		 uncertain significance
NM_003476.5(CSRP3):c.386C>T (p.Ala129Val) single nucleotide variant Cardiovascular phenotype [RCV004615734] Chr11:19186244 [GRCh38]
Chr11:19207791 [GRCh37]
Chr11:11p15.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:408
Count of miRNA genes:190
Interacting mature miRNAs:198
Transcripts:ENST00000265968, ENST00000533783
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1576345LVC1_HLeft ventricular contractility QTL 1 (human)3.93Left ventricular contractility11797076733970767Human
2289313BW388_HBody weight QTL 388 (human)1.570.00356Body fat amountabdominal11443467130434671Human
1559107SCL32_HSerum cholesterol level QTL 32 (human)3.27Lipid levelLDL cholesterol11289243028892430Human
1559104SCL15_HSerum cholesterol level QTL 15 (human)2.60.06Lipid levelhyperlipidemia susceptibility111589236841892368Human
1559113SCL31_HSerum cholesterol level QTL 31 (human)3.72Lipid levelLDL cholesterol11289243028892430Human

Markers in Region
RH91852  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371119,203,645 - 19,203,766UniSTSGRCh37
Build 361119,160,221 - 19,160,342RGDNCBI36
Celera1119,336,122 - 19,336,243RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,887,616 - 18,887,737UniSTS
GeneMap99-GB4 RH Map1167.52UniSTS
CSRP3_8775  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371119,203,553 - 19,204,087UniSTSGRCh37
Build 361119,160,129 - 19,160,663RGDNCBI36
Celera1119,336,030 - 19,336,564RGD
HuRef1118,887,524 - 18,888,058UniSTS
RH70653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371119,203,781 - 19,203,905UniSTSGRCh37
Build 361119,160,357 - 19,160,481RGDNCBI36
Celera1119,336,258 - 19,336,382RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,887,752 - 18,887,876UniSTS
GeneMap99-GB4 RH Map1173.64UniSTS
NCBI RH Map11129.6UniSTS
D11S4012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371119,215,535 - 19,215,741UniSTSGRCh37
Build 361119,172,111 - 19,172,317RGDNCBI36
Celera1119,348,012 - 19,348,218RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,899,514 - 18,899,720UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH41836  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371119,203,983 - 19,204,145UniSTSGRCh37
Build 361119,160,559 - 19,160,721RGDNCBI36
Celera1119,336,460 - 19,336,622RGD
Cytogenetic Map11p15.1UniSTS
HuRef1118,887,954 - 18,888,116UniSTS
GeneMap99-GB4 RH Map1173.59UniSTS
NCBI RH Map11129.6UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1063 1939 2606 2066 4092 1269 1676 2 369 1175 217 1851 5532 5159 14 3175 520 1373 1242 155

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011932 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001369404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA192614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009652 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF121260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI184002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ711422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK313289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX207868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC024010 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC057221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF671742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF179182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JN898958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF616507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF616508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U20324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U49837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U72899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265968   ⟹   ENSP00000265968
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1119,182,030 - 19,201,983 (-)Ensembl
Ensembl Acc Id: ENST00000533783   ⟹   ENSP00000431813
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1119,182,037 - 19,210,571 (-)Ensembl
Ensembl Acc Id: ENST00000647990   ⟹   ENSP00000496798
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1119,182,164 - 19,201,976 (-)Ensembl
Ensembl Acc Id: ENST00000648719   ⟹   ENSP00000497633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1119,182,168 - 19,202,030 (-)Ensembl
Ensembl Acc Id: ENST00000649235   ⟹   ENSP00000497388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1119,182,413 - 19,201,981 (-)Ensembl
Ensembl Acc Id: ENST00000649842   ⟹   ENSP00000497531
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1119,182,415 - 19,201,989 (-)Ensembl
RefSeq Acc Id: NM_001369404   ⟹   NP_001356333
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381119,182,030 - 19,201,983 (-)NCBI
T2T-CHM13v2.01119,302,167 - 19,322,081 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003476   ⟹   NP_003467
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381119,182,030 - 19,201,983 (-)NCBI
GRCh371119,203,577 - 19,232,118 (-)NCBI
Build 361119,160,154 - 19,180,177 (-)NCBI Archive
HuRef1118,887,548 - 18,916,047 (-)NCBI
CHM1_11119,202,919 - 19,231,414 (-)NCBI
T2T-CHM13v2.01119,302,167 - 19,322,081 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003467   ⟸   NM_003476
- Peptide Label: isoform 1
- UniProtKB: Q9P131 (UniProtKB/Swiss-Prot),   S4S7M7 (UniProtKB/Swiss-Prot),   P50461 (UniProtKB/Swiss-Prot),   A2TDB8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001356333   ⟸   NM_001369404
- Peptide Label: isoform 2
- UniProtKB: A0A3B3ISZ2 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000497633   ⟸   ENST00000648719
Ensembl Acc Id: ENSP00000497388   ⟸   ENST00000649235
Ensembl Acc Id: ENSP00000497531   ⟸   ENST00000649842
Ensembl Acc Id: ENSP00000431813   ⟸   ENST00000533783
Ensembl Acc Id: ENSP00000265968   ⟸   ENST00000265968
Ensembl Acc Id: ENSP00000496798   ⟸   ENST00000647990
Protein Domains
LIM zinc-binding

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50461-F1-model_v2 AlphaFold P50461 1-194 view protein structure

Promoters
RGD ID:7219827
Promoter ID:EPDNEW_H15659
Type:multiple initiation site
Name:CSRP3_1
Description:cysteine and glycine rich protein 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381119,201,983 - 19,202,043EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2472 AgrOrtholog
COSMIC CSRP3 COSMIC
Ensembl Genes ENSG00000129170 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265968 ENTREZGENE
  ENST00000265968.9 UniProtKB/Swiss-Prot
  ENST00000533783.2 UniProtKB/Swiss-Prot
  ENST00000647990.1 UniProtKB/TrEMBL
  ENST00000648719.1 UniProtKB/TrEMBL
  ENST00000649235.1 UniProtKB/Swiss-Prot
  ENST00000649842 ENTREZGENE
  ENST00000649842.1 UniProtKB/TrEMBL
Gene3D-CATH Cysteine Rich Protein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000129170 GTEx
HGNC ID HGNC:2472 ENTREZGENE
Human Proteome Map CSRP3 Human Proteome Map
InterPro Znf_LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8048 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 8048 ENTREZGENE
OMIM 600824 OMIM
PANTHER CYSTEINE AND GLYCINE-RICH PROTEIN 3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  RHO-GTPASE-ACTIVATING PROTEIN LRG1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26971 PharmGKB
PROSITE LIM_DOMAIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LIM_DOMAIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART LIM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Glucocorticoid receptor-like (DNA-binding domain) UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A3B3IRI5_HUMAN UniProtKB/TrEMBL
  A0A3B3ISZ2 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IT61_HUMAN UniProtKB/TrEMBL
  A0A7R6RQ65_HUMAN UniProtKB/TrEMBL
  A0A7R6RR27_HUMAN UniProtKB/TrEMBL
  A2TDB8 ENTREZGENE, UniProtKB/TrEMBL
  CSRP3_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9P131 ENTREZGENE
  S4S7M7 ENTREZGENE
UniProt Secondary Q9P131 UniProtKB/Swiss-Prot
  S4S7M7 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-01 CSRP3  cysteine and glycine rich protein 3  CSRP3  cysteine and glycine-rich protein 3 (cardiac LIM protein)  Symbol and/or name change 5135510 APPROVED