CALR3 (calreticulin 3) - Rat Genome Database

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Gene: CALR3 (calreticulin 3) Homo sapiens
Analyze
Symbol: CALR3
Name: calreticulin 3
RGD ID: 1319475
HGNC Page HGNC:20407
Description: Predicted to enable several functions, including calcium ion binding activity; protein folding chaperone; and unfolded protein binding activity. Predicted to be involved in protein folding. Located in endoplasmic reticulum lumen and nuclear envelope.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: calreticulin 2; calreticulin-2; calreticulin-3; calsperin; cancer/testis antigen 93; CMH19; CRT2; CT93; FLJ25355; MGC26577; testis secretory sperm-binding protein Li 226n
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381916,479,061 - 16,496,167 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1916,479,061 - 16,496,167 (-)EnsemblGRCh38hg38GRCh38
GRCh371916,589,872 - 16,606,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361916,450,887 - 16,468,003 (-)NCBINCBI36Build 36hg18NCBI36
Build 341916,450,887 - 16,468,003NCBI
Celera1916,491,740 - 16,508,840 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1916,158,784 - 16,175,504 (-)NCBIHuRef
CHM1_11916,589,388 - 16,606,484 (-)NCBICHM1_1
T2T-CHM13v2.01916,613,878 - 16,630,953 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:12384296   PMID:12477932   PMID:14702039   PMID:15342556   PMID:15489334   PMID:16159877   PMID:17975137   PMID:20301725   PMID:21590275   PMID:21738480   PMID:21873635   PMID:26186194  
PMID:26252478   PMID:28514442   PMID:29988065   PMID:31056421   PMID:33961781   PMID:34079125  


Genomics

Comparative Map Data
CALR3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381916,479,061 - 16,496,167 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1916,479,061 - 16,496,167 (-)EnsemblGRCh38hg38GRCh38
GRCh371916,589,872 - 16,606,978 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361916,450,887 - 16,468,003 (-)NCBINCBI36Build 36hg18NCBI36
Build 341916,450,887 - 16,468,003NCBI
Celera1916,491,740 - 16,508,840 (-)NCBICelera
Cytogenetic Map19p13.11NCBI
HuRef1916,158,784 - 16,175,504 (-)NCBIHuRef
CHM1_11916,589,388 - 16,606,484 (-)NCBICHM1_1
T2T-CHM13v2.01916,613,878 - 16,630,953 (-)NCBIT2T-CHM13v2.0
Calr3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39873,178,020 - 73,197,638 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl873,178,020 - 73,197,714 (-)EnsemblGRCm39 Ensembl
GRCm38872,424,176 - 72,443,819 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl872,424,176 - 72,443,870 (-)EnsemblGRCm38mm10GRCm38
MGSCv37874,948,082 - 74,967,677 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36875,353,172 - 75,372,767 (-)NCBIMGSCv36mm8
Celera876,763,438 - 76,782,291 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map835.08NCBI
Calr3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81617,430,105 - 17,456,777 (+)NCBIGRCr8
mRatBN7.21617,396,064 - 17,423,166 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1617,396,247 - 17,423,015 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1617,464,589 - 17,488,241 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01618,595,761 - 18,620,537 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01617,517,509 - 17,541,163 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01619,097,391 - 19,124,062 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1619,097,391 - 19,124,062 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01618,960,142 - 18,985,150 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41617,814,237 - 17,842,744 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11617,814,234 - 17,842,742 (+)NCBI
Celera1617,615,842 - 17,640,280 (+)NCBICelera
Cytogenetic Map16p14NCBI
Calr3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555241,245,708 - 1,256,478 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555241,245,607 - 1,256,528 (+)NCBIChiLan1.0ChiLan1.0
CALR3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22021,350,144 - 21,368,984 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11920,356,194 - 20,375,040 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01915,969,684 - 15,986,858 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11916,948,431 - 16,965,232 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1916,948,499 - 16,965,161 (-)Ensemblpanpan1.1panPan2
CALR3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12046,039,115 - 46,060,834 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2046,039,115 - 46,060,814 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2045,953,092 - 45,974,897 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02046,526,579 - 46,548,627 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2046,526,668 - 46,548,607 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12045,761,738 - 45,783,531 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02046,172,531 - 46,194,491 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02046,448,080 - 46,470,106 (+)NCBIUU_Cfam_GSD_1.0
Calr3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118204,571,185 - 204,591,064 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365964,120,295 - 4,140,432 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365964,120,292 - 4,140,432 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CALR3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl261,105,303 - 61,134,961 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1261,105,307 - 61,136,060 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2260,738,182 - 60,767,157 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CALR3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1614,987,761 - 15,007,145 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl614,987,230 - 15,006,857 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660744,464,855 - 4,484,155 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Calr3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624908949,783 - 961,667 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624908949,709 - 962,114 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CALR3
229 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NC_000019.9:g.(?_16593241)_(16606960_?)dup duplication Hypertrophic cardiomyopathy 19 [RCV000531621] Chr19:16593241..16606960 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1120T>G (p.Tyr374Asp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000549366] Chr19:16479166 [GRCh38]
Chr19:16589977 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.92-7C>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000552233] Chr19:16495859 [GRCh38]
Chr19:16606670 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1003G>A (p.Glu335Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000556466]|Inborn genetic diseases [RCV003338662] Chr19:16480622 [GRCh38]
Chr19:16591433 [GRCh37]
Chr19:19p13.11
uncertain significance
NC_000019.9:g.(?_16595954)_(16601401_?)dup duplication Hypertrophic cardiomyopathy 19 [RCV000543945] Chr19:16485143..16490590 [GRCh38]
Chr19:16595954..16601401 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000157136]|Hypertrophic cardiomyopathy 19 [RCV000023894]|Hypertrophic cardiomyopathy [RCV000172523]|not provided [RCV000857965] Chr19:16490519 [GRCh38]
Chr19:16601330 [GRCh37]
Chr19:19p13.11
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_145046.5(CALR3):c.733G>A (p.Gly245Ser) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001229441] Chr19:16482731 [GRCh38]
Chr19:16593542 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh38/hg38 19p13.11(chr19:16485144-16672218)x1 copy number loss See cases [RCV000052092] Chr19:16485144..16672218 [GRCh38]
Chr19:16595955..16783029 [GRCh37]
Chr19:16456955..16644029 [NCBI36]
Chr19:19p13.11
uncertain significance
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3 copy number gain See cases [RCV000052912] Chr19:13974677..27839676 [GRCh38]
Chr19:14085489..28330584 [GRCh37]
Chr19:13946489..33022424 [NCBI36]
Chr19:19p13.12-q11
pathogenic
GRCh38/hg38 19p13.12-13.11(chr19:16065434-16849373)x3 copy number gain See cases [RCV000054147] Chr19:16065434..16849373 [GRCh38]
Chr19:16176244..16960184 [GRCh37]
Chr19:16037244..16821184 [NCBI36]
Chr19:19p13.12-13.11
uncertain significance
NM_145046.4(CALR3):c.784C>T (p.Gln262Ter) single nucleotide variant Malignant melanoma [RCV000071980] Chr19:16482680 [GRCh38]
Chr19:16593491 [GRCh37]
Chr19:16454491 [NCBI36]
Chr19:19p13.11
not provided
NM_145046.4(CALR3):c.745G>A (p.Gly249Arg) single nucleotide variant Malignant melanoma [RCV000071981] Chr19:16482719 [GRCh38]
Chr19:16593530 [GRCh37]
Chr19:16454530 [NCBI36]
Chr19:19p13.11
not provided
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3 copy number gain See cases [RCV000133888] Chr19:11227942..44626354 [GRCh38]
Chr19:11338618..45129651 [GRCh37]
Chr19:11199618..49821491 [NCBI36]
Chr19:19p13.2-q13.31
pathogenic
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) single nucleotide variant Cardiomyopathy [RCV000852751]|Cardiovascular phenotype [RCV000621757]|Hypertrophic cardiomyopathy 19 [RCV000461036]|not provided [RCV000429817]|not specified [RCV000172741] Chr19:16482518 [GRCh38]
Chr19:16593329 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_145046.5(CALR3):c.820G>A (p.Val274Ile) single nucleotide variant Cardiovascular phenotype [RCV000620226]|Hypertrophic cardiomyopathy 19 [RCV000456929]|not provided [RCV000588640]|not specified [RCV000172742] Chr19:16482548 [GRCh38]
Chr19:16593359 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.215G>A (p.Gly72Asp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001078828]|not provided [RCV000171882] Chr19:16490549 [GRCh38]
Chr19:16601360 [GRCh37]
Chr19:19p13.11
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_145046.5(CALR3):c.189T>G (p.Asp63Glu) single nucleotide variant not provided [RCV000171883] Chr19:16495755 [GRCh38]
Chr19:16606566 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1 copy number loss See cases [RCV000134176] Chr19:14154962..16914313 [GRCh38]
Chr19:14265774..17025123 [GRCh37]
Chr19:14126774..16886123 [NCBI36]
Chr19:19p13.12-13.11
pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 copy number gain See cases [RCV000136696] Chr19:15133594..24193591 [GRCh38]
Chr19:15244405..24376393 [GRCh37]
Chr19:15105405..24168233 [NCBI36]
Chr19:19p13.12-12
pathogenic|likely pathogenic
NM_145046.5(CALR3):c.67T>A (p.Phe23Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001850178]|Primary dilated cardiomyopathy [RCV000157135] Chr19:16496063 [GRCh38]
Chr19:16606874 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.679-7T>C single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157137] Chr19:16482792 [GRCh38]
Chr19:16593603 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.398-6T>C single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000204941]|not provided [RCV000588588]|not specified [RCV001699235] Chr19:16485263 [GRCh38]
Chr19:16596074 [GRCh37]
Chr19:19p13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_145046.5(CALR3):c.861G>A (p.Thr287=) single nucleotide variant Cardiovascular phenotype [RCV000618157]|Hypertrophic cardiomyopathy 19 [RCV000205787]|not provided [RCV000587677]|not specified [RCV001699009] Chr19:16482507 [GRCh38]
Chr19:16593318 [GRCh37]
Chr19:19p13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_145046.5(CALR3):c.546T>C (p.Tyr182=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000550410] Chr19:16484062 [GRCh38]
Chr19:16594873 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.38T>C (p.Met13Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000228780] Chr19:16496092 [GRCh38]
Chr19:16606903 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1012-9T>C single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000232231]|not provided [RCV000586675]|not specified [RCV001699247] Chr19:16479283 [GRCh38]
Chr19:16590094 [GRCh37]
Chr19:19p13.11
pathogenic|benign
NM_145046.5(CALR3):c.125A>G (p.Asn42Ser) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000226001]|not provided [RCV001706279]|not specified [RCV001795373] Chr19:16495819 [GRCh38]
Chr19:16606630 [GRCh37]
Chr19:19p13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_145046.5(CALR3):c.483C>A (p.Ile161=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000231547]|not provided [RCV000590260]|not specified [RCV001699167] Chr19:16485172 [GRCh38]
Chr19:16595983 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.780G>T (p.Pro260=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001454570] Chr19:16482684 [GRCh38]
Chr19:16593495 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1095G>C (p.Ser365=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001493842] Chr19:16479191 [GRCh38]
Chr19:16590002 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.648T>C (p.Asp216=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001493860] Chr19:16483960 [GRCh38]
Chr19:16594771 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.484A>G (p.Arg162Gly) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000601348]|not provided [RCV001700172] Chr19:16485171 [GRCh38]
Chr19:16595982 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.702C>T (p.Asp234=) single nucleotide variant Cardiovascular phenotype [RCV000618483]|Hypertrophic cardiomyopathy 19 [RCV000625412]|not provided [RCV000587631]|not specified [RCV000605682] Chr19:16482762 [GRCh38]
Chr19:16593573 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.397+10C>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000625413]|not provided [RCV000586874]|not specified [RCV001700229] Chr19:16490357 [GRCh38]
Chr19:16601168 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.972C>T (p.Tyr324=) single nucleotide variant Cardiovascular phenotype [RCV000620455]|Hypertrophic cardiomyopathy 19 [RCV000615036]|not provided [RCV000589357]|not specified [RCV000616476] Chr19:16480653 [GRCh38]
Chr19:16591464 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.381G>A (p.Gln127=) single nucleotide variant Cardiovascular phenotype [RCV000617668]|Hypertrophic cardiomyopathy 19 [RCV000611629]|not provided [RCV000590058]|not specified [RCV000608406] Chr19:16490383 [GRCh38]
Chr19:16601194 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.833G>A (p.Arg278His) single nucleotide variant Cardiovascular phenotype [RCV000619715]|Hypertrophic cardiomyopathy 19 [RCV001241673] Chr19:16482535 [GRCh38]
Chr19:16593346 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3 copy number gain not provided [RCV000752593] Chr19:16526787..24631604 [GRCh37]
Chr19:19p13.11-11
pathogenic
NM_145046.5(CALR3):c.1104T>A (p.Ile368=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000536928] Chr19:16479182 [GRCh38]
Chr19:16589993 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.832C>T (p.Arg278Cys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000539617] Chr19:16482536 [GRCh38]
Chr19:16593347 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.732C>T (p.Asn244=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000551205] Chr19:16482732 [GRCh38]
Chr19:16593543 [GRCh37]
Chr19:19p13.11
likely benign
GRCh37/hg19 19p13.11(chr19:16595960-16617485)x3 copy number gain See cases [RCV000446947] Chr19:16595960..16617485 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-13.11(chr19:15970389-17893528)x1 copy number loss not provided [RCV000487468] Chr19:15970389..17893528 [GRCh37]
Chr19:19p13.12-13.11
pathogenic
NM_145046.5(CALR3):c.787G>C (p.Asp263His) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000474194] Chr19:16482581 [GRCh38]
Chr19:16593392 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) single nucleotide variant Cardiovascular phenotype [RCV000618962]|Hypertrophic cardiomyopathy 19 [RCV000467356]|Hypertrophic cardiomyopathy [RCV003227765]|not provided [RCV001703179]|not specified [RCV001700129] Chr19:16482520 [GRCh38]
Chr19:16593331 [GRCh37]
Chr19:19p13.11
benign|likely benign|uncertain significance
NM_145046.5(CALR3):c.1114G>A (p.Glu372Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000459812] Chr19:16479172 [GRCh38]
Chr19:16589983 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.181G>A (p.Glu61Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000467702] Chr19:16495763 [GRCh38]
Chr19:16606574 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000460922]|not provided [RCV001528265] Chr19:16485252 [GRCh38]
Chr19:16596063 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1069G>A (p.Glu357Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000476858] Chr19:16479217 [GRCh38]
Chr19:16590028 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.511C>T (p.Leu171=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000473373] Chr19:16484097 [GRCh38]
Chr19:16594908 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.60C>G (p.Thr20=) single nucleotide variant Cardiovascular phenotype [RCV000618943]|Hypertrophic cardiomyopathy 19 [RCV000473444]|not provided [RCV001724021]|not specified [RCV001700128] Chr19:16496070 [GRCh38]
Chr19:16606881 [GRCh37]
Chr19:19p13.11
benign|likely benign|conflicting interpretations of pathogenicity
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu) single nucleotide variant Cardiovascular phenotype [RCV000618856]|Hypertrophic cardiomyopathy 19 [RCV000466260]|Primary dilated cardiomyopathy [RCV000852750]|not provided [RCV000588378]|not specified [RCV001700127] Chr19:16479219 [GRCh38]
Chr19:16590030 [GRCh37]
Chr19:19p13.11
benign
GRCh37/hg19 19p13.12-13.11(chr19:14883158-16788770)x1 copy number loss See cases [RCV000511367] Chr19:14883158..16788770 [GRCh37]
Chr19:19p13.12-13.11
pathogenic
GRCh37/hg19 19p13.12-13.11(chr19:15921132-17479860)x1 copy number loss See cases [RCV000511230] Chr19:15921132..17479860 [GRCh37]
Chr19:19p13.12-13.11
likely pathogenic
NM_145046.5(CALR3):c.594C>T (p.Tyr198=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000526275] Chr19:16484014 [GRCh38]
Chr19:16594825 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_145046.5(CALR3):c.738C>T (p.Asp246=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001466660] Chr19:16482726 [GRCh38]
Chr19:16593537 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.96T>C (p.His32=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002530090]|not provided [RCV000528088]|not specified [RCV001701043] Chr19:16495848 [GRCh38]
Chr19:16606659 [GRCh37]
Chr19:19p13.11
benign|likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_145046.5(CALR3):c.493-6A>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001517641]|not specified [RCV003330784] Chr19:16484121 [GRCh38]
Chr19:16594932 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.564del (p.Gln189fs) deletion Hypertrophic cardiomyopathy 19 [RCV000611727]|not provided [RCV001700241] Chr19:16484044 [GRCh38]
Chr19:16594855 [GRCh37]
Chr19:19p13.11
conflicting interpretations of pathogenicity|uncertain significance
NM_145046.5(CALR3):c.691C>G (p.His231Asp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000538854] Chr19:16482773 [GRCh38]
Chr19:16593584 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_145046.5(CALR3):c.28G>A (p.Ala10Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000648821] Chr19:16496102 [GRCh38]
Chr19:16606913 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1114G>C (p.Glu372Gln) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000648822]|Inborn genetic diseases [RCV003162961] Chr19:16479172 [GRCh38]
Chr19:16589983 [GRCh37]
Chr19:19p13.11
likely benign|uncertain significance
NM_145046.5(CALR3):c.1087C>T (p.Leu363=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000648823] Chr19:16479199 [GRCh38]
Chr19:16590010 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.243C>T (p.Phe81=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000648824] Chr19:16490521 [GRCh38]
Chr19:16601332 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.710C>G (p.Thr237Ser) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000698639] Chr19:16482754 [GRCh38]
Chr19:16593565 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.91+6G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000685548] Chr19:16496033 [GRCh38]
Chr19:16606844 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.740T>A (p.Leu247Gln) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000700645] Chr19:16482724 [GRCh38]
Chr19:16593535 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.521T>C (p.Leu174Pro) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000694911] Chr19:16484087 [GRCh38]
Chr19:16594898 [GRCh37]
Chr19:19p13.11
uncertain significance
NC_000019.9:g.(?_16593553)_(16606960_?)dup duplication Hypertrophic cardiomyopathy 19 [RCV000708388] Chr19:16482742..16496149 [GRCh38]
Chr19:16593553..16606960 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.787-3C>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000698224] Chr19:16482584 [GRCh38]
Chr19:16593395 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1129_1132del (p.Gln377fs) microsatellite Hypertrophic cardiomyopathy 19 [RCV000695308] Chr19:16479154..16479157 [GRCh38]
Chr19:16589965..16589968 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1129C>G (p.Gln377Glu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000696300] Chr19:16479157 [GRCh38]
Chr19:16589968 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_145046.5(CALR3):c.639A>G (p.Glu213=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001463452] Chr19:16483969 [GRCh38]
Chr19:16594780 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.239G>C (p.Arg80Pro) single nucleotide variant Cardiomyopathy [RCV000852753] Chr19:16490525 [GRCh38]
Chr19:16601336 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.828C>G (p.Leu276=) single nucleotide variant not provided [RCV000996817] Chr19:16482540 [GRCh38]
Chr19:16593351 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.493-41T>C single nucleotide variant not provided [RCV001608826] Chr19:16484156 [GRCh38]
Chr19:16594967 [GRCh37]
Chr19:19p13.11
benign
NM_032207.4(C19orf44):c.-2+29A>G single nucleotide variant not provided [RCV001644171] Chr19:16496494 [GRCh38]
Chr19:16607305 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1110G>A (p.Arg370=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000867083] Chr19:16479176 [GRCh38]
Chr19:16589987 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1131A>G (p.Gln377=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001051152] Chr19:16479155 [GRCh38]
Chr19:16589966 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.619A>G (p.Lys207Glu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001065063] Chr19:16483989 [GRCh38]
Chr19:16594800 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.356A>G (p.Gln119Arg) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000792506] Chr19:16490408 [GRCh38]
Chr19:16601219 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1012-10_1012-9del deletion Hypertrophic cardiomyopathy 19 [RCV001416616] Chr19:16479283..16479284 [GRCh38]
Chr19:16590094..16590095 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.129C>T (p.Asp43=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001401146] Chr19:16495815 [GRCh38]
Chr19:16606626 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1089G>T (p.Leu363=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001431308] Chr19:16479197 [GRCh38]
Chr19:16590008 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.741G>C (p.Leu247=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001460489] Chr19:16482723 [GRCh38]
Chr19:16593534 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.780G>A (p.Pro260=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000867043] Chr19:16482684 [GRCh38]
Chr19:16593495 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.63C>G (p.Val21=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000874767] Chr19:16496067 [GRCh38]
Chr19:16606878 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.217C>G (p.Arg73Gly) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001855905]|Hypertrophic cardiomyopathy [RCV000768499] Chr19:16490547 [GRCh38]
Chr19:16601358 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.360G>T (p.Lys120Asn) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000816001] Chr19:16490404 [GRCh38]
Chr19:16601215 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.916C>A (p.Gln306Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000806881] Chr19:16482452 [GRCh38]
Chr19:16593263 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1094C>T (p.Ser365Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000801511] Chr19:16479192 [GRCh38]
Chr19:16590003 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.54G>C (p.Leu18=) single nucleotide variant not provided [RCV000996820] Chr19:16496076 [GRCh38]
Chr19:16606887 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.137T>C (p.Phe46Ser) single nucleotide variant not provided [RCV000996819] Chr19:16495807 [GRCh38]
Chr19:16606618 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.641C>T (p.Ser214Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000816932] Chr19:16483967 [GRCh38]
Chr19:16594778 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.642G>A (p.Ser214=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001493394] Chr19:16483966 [GRCh38]
Chr19:16594777 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.626C>T (p.Thr209Met) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000792224] Chr19:16483982 [GRCh38]
Chr19:16594793 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.16G>A (p.Val6Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000803526] Chr19:16496114 [GRCh38]
Chr19:16606925 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.488G>A (p.Cys163Tyr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000807971] Chr19:16485167 [GRCh38]
Chr19:16595978 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1066C>T (p.Arg356Cys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000817989] Chr19:16479220 [GRCh38]
Chr19:16590031 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.493-1G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000801993] Chr19:16484116 [GRCh38]
Chr19:16594927 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.492+9T>C single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001422796] Chr19:16485154 [GRCh38]
Chr19:16595965 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.724G>A (p.Asp242Asn) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000815981] Chr19:16482740 [GRCh38]
Chr19:16593551 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.194-2A>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000803947] Chr19:16490572 [GRCh38]
Chr19:16601383 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.37A>G (p.Met13Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001239014] Chr19:16496093 [GRCh38]
Chr19:16606904 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.641C>G (p.Ser214Trp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001228534] Chr19:16483967 [GRCh38]
Chr19:16594778 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.323G>C (p.Gly108Ala) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001204008] Chr19:16490441 [GRCh38]
Chr19:16601252 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.39G>C (p.Met13Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001229166] Chr19:16496091 [GRCh38]
Chr19:16606902 [GRCh37]
Chr19:19p13.11
uncertain significance
NC_000019.9:g.(?_16606542)_(16606940_?)del deletion Hypertrophic cardiomyopathy 19 [RCV003113655] Chr19:16606542..16606940 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.193+172dup duplication not provided [RCV001684915] Chr19:16495558..16495559 [GRCh38]
Chr19:16606369..16606370 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1011+251T>C single nucleotide variant not provided [RCV001687104] Chr19:16480363 [GRCh38]
Chr19:16591174 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.92-79C>G single nucleotide variant not provided [RCV001534706] Chr19:16495931 [GRCh38]
Chr19:16606742 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.193+17G>A single nucleotide variant not specified [RCV001699604] Chr19:16495734 [GRCh38]
Chr19:16606545 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs) microsatellite not provided [RCV001699612] Chr19:16479217..16479218 [GRCh38]
Chr19:16590028..16590029 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.194-30T>A single nucleotide variant not provided [RCV001641118] Chr19:16490600 [GRCh38]
Chr19:16601411 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.918+321G>T single nucleotide variant not provided [RCV001611192] Chr19:16482129 [GRCh38]
Chr19:16592940 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.493-53G>A single nucleotide variant not provided [RCV001671918] Chr19:16484168 [GRCh38]
Chr19:16594979 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.679-184G>T single nucleotide variant not provided [RCV001719490] Chr19:16482969 [GRCh38]
Chr19:16593780 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.679-186T>C single nucleotide variant not provided [RCV001719491] Chr19:16482971 [GRCh38]
Chr19:16593782 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.194-194del deletion not provided [RCV001719493] Chr19:16490764 [GRCh38]
Chr19:16601575 [GRCh37]
Chr19:19p13.11
benign
NC_000019.10:g.16496310C>T single nucleotide variant not provided [RCV001719494] Chr19:16496310 [GRCh38]
Chr19:16607121 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.193+190_193+192del deletion not provided [RCV001719495] Chr19:16495559..16495561 [GRCh38]
Chr19:16606370..16606372 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1012-175C>T single nucleotide variant not provided [RCV001719498] Chr19:16479449 [GRCh38]
Chr19:16590260 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1012-167dup duplication not provided [RCV001719499] Chr19:16479429..16479430 [GRCh38]
Chr19:16590240..16590241 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.919-183A>G single nucleotide variant not provided [RCV001644382] Chr19:16480889 [GRCh38]
Chr19:16591700 [GRCh37]
Chr19:19p13.11
benign
NM_032207.4(C19orf44):c.-45G>C single nucleotide variant not provided [RCV001695113] Chr19:16496422 [GRCh38]
Chr19:16607233 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.772_777delinsGCCAGG (p.Lys258_Pro259delinsAlaArg) indel Restrictive cardiomyopathy [RCV000852479] Chr19:16482687..16482692 [GRCh38]
Chr19:16593498..16593503 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.679-3dup duplication Cardiomyopathy [RCV000852752] Chr19:16482786..16482787 [GRCh38]
Chr19:16593597..16593598 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.291A>G (p.Val97=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV000865118] Chr19:16490473 [GRCh38]
Chr19:16601284 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.195T>C (p.Gly65=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001457871] Chr19:16490569 [GRCh38]
Chr19:16601380 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.759G>A (p.Ala253=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001432670] Chr19:16482705 [GRCh38]
Chr19:16593516 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.368A>C (p.Asn123Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001222688] Chr19:16490396 [GRCh38]
Chr19:16601207 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1A>T (p.Met1Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001247862] Chr19:16496129 [GRCh38]
Chr19:16606940 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.194-90T>C single nucleotide variant not provided [RCV001595827] Chr19:16490660 [GRCh38]
Chr19:16601471 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.193+172_193+173dup duplication not provided [RCV001716313] Chr19:16495558..16495559 [GRCh38]
Chr19:16606369..16606370 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.918+249G>A single nucleotide variant not provided [RCV001527775] Chr19:16482201 [GRCh38]
Chr19:16593012 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.91+84C>G single nucleotide variant not provided [RCV001597424] Chr19:16495955 [GRCh38]
Chr19:16606766 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.918+47TTGTT[4] microsatellite not provided [RCV001608610] Chr19:16482379..16482383 [GRCh38]
Chr19:16593190..16593194 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.787-23C>T single nucleotide variant not provided [RCV001719496] Chr19:16482604 [GRCh38]
Chr19:16593415 [GRCh37]
Chr19:19p13.11
benign
NC_000019.10:g.16478939T>C single nucleotide variant not provided [RCV001719500] Chr19:16478939 [GRCh38]
Chr19:16589750 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1012-86A>C single nucleotide variant not provided [RCV001719501] Chr19:16479360 [GRCh38]
Chr19:16590171 [GRCh37]
Chr19:19p13.11
benign
NC_000019.10:g.16478996A>G single nucleotide variant not provided [RCV001598937] Chr19:16478996 [GRCh38]
Chr19:16589807 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1011+187G>A single nucleotide variant not provided [RCV001640868] Chr19:16480427 [GRCh38]
Chr19:16591238 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.397+24A>G single nucleotide variant not provided [RCV001658599]|not specified [RCV001724378] Chr19:16490343 [GRCh38]
Chr19:16601154 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.1011+189C>T single nucleotide variant not provided [RCV001612358] Chr19:16480425 [GRCh38]
Chr19:16591236 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.918+58T>C single nucleotide variant not provided [RCV001708860] Chr19:16482392 [GRCh38]
Chr19:16593203 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.919-178C>T single nucleotide variant not provided [RCV001527789] Chr19:16480884 [GRCh38]
Chr19:16591695 [GRCh37]
Chr19:19p13.11
benign
NC_000019.10:g.(?_16482440)_(16496139_?)dup duplication Hypertrophic cardiomyopathy 19 [RCV001033947] Chr19:16593251..16606950 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.493-1G>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001206623] Chr19:16484116 [GRCh38]
Chr19:16594927 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.127G>A (p.Asp43Asn) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001204638] Chr19:16495817 [GRCh38]
Chr19:16606628 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.714C>T (p.Ser238=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001052456] Chr19:16482750 [GRCh38]
Chr19:16593561 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.404A>G (p.Asp135Gly) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001203920] Chr19:16485251 [GRCh38]
Chr19:16596062 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3 copy number gain not provided [RCV001259370] Chr19:14286624..20956753 [GRCh37]
Chr19:19p13.12-12
pathogenic
NM_145046.5(CALR3):c.600G>C (p.Trp200Cys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001348522] Chr19:16484008 [GRCh38]
Chr19:16594819 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.476A>C (p.Lys159Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001315362] Chr19:16485179 [GRCh38]
Chr19:16595990 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1147G>A (p.Glu383Lys) single nucleotide variant CALR3-related condition [RCV003399146]|Hypertrophic cardiomyopathy 19 [RCV001351325] Chr19:16479139 [GRCh38]
Chr19:16589950 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.21G>C (p.Gln7His) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001342403] Chr19:16496109 [GRCh38]
Chr19:16606920 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.941A>T (p.Asp314Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001307007] Chr19:16480684 [GRCh38]
Chr19:16591495 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.452A>G (p.Lys151Arg) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001296819] Chr19:16485203 [GRCh38]
Chr19:16596014 [GRCh37]
Chr19:19p13.11
uncertain significance
NC_000019.9:g.(?_16595954)_(16601401_?)dup duplication Familial hypertrophic cardiomyopathy 19 [RCV001296833] Chr19:16595954..16601401 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.349A>G (p.Ile117Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001295959] Chr19:16490415 [GRCh38]
Chr19:16601226 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.697C>G (p.Leu233Val) single nucleotide variant Hypertrophic cardiomyopathy [RCV001281573] Chr19:16482767 [GRCh38]
Chr19:16593578 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.31A>G (p.Ile11Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001351562] Chr19:16496099 [GRCh38]
Chr19:16606910 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.377C>T (p.Ser126Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001296715] Chr19:16490387 [GRCh38]
Chr19:16601198 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.761C>T (p.Pro254Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001492260] Chr19:16482703 [GRCh38]
Chr19:16593514 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.273G>A (p.Leu91=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001505623] Chr19:16490491 [GRCh38]
Chr19:16601302 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.345A>G (p.Ala115=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001489090] Chr19:16490419 [GRCh38]
Chr19:16601230 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.520C>A (p.Leu174Ile) single nucleotide variant not provided [RCV001528399] Chr19:16484088 [GRCh38]
Chr19:16594899 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.705C>T (p.Ala235=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001431066] Chr19:16482759 [GRCh38]
Chr19:16593570 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.159G>A (p.Ser53=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001431329] Chr19:16495785 [GRCh38]
Chr19:16606596 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.216C>T (p.Gly72=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001447712] Chr19:16490548 [GRCh38]
Chr19:16601359 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.398-4G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001519835]|not specified [RCV003331174] Chr19:16485261 [GRCh38]
Chr19:16596072 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.193+191_193+192del deletion not provided [RCV001684216] Chr19:16495559..16495560 [GRCh38]
Chr19:16606370..16606371 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.271C>T (p.Leu91=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001496557] Chr19:16490493 [GRCh38]
Chr19:16601304 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.787-14dup duplication Hypertrophic cardiomyopathy 19 [RCV001522980] Chr19:16482588..16482589 [GRCh38]
Chr19:16593399..16593400 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.156G>A (p.Ser52=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001482755] Chr19:16495788 [GRCh38]
Chr19:16606599 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.816A>G (p.Lys272=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001495304] Chr19:16482552 [GRCh38]
Chr19:16593363 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.378G>A (p.Ser126=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001479920]|not provided [RCV001729920]|not specified [RCV001729921] Chr19:16490386 [GRCh38]
Chr19:16601197 [GRCh37]
Chr19:19p13.11
benign|likely benign
NM_145046.5(CALR3):c.633G>A (p.Pro211=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001458612] Chr19:16483975 [GRCh38]
Chr19:16594786 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1152T>G (p.Leu384=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001478453] Chr19:16479134 [GRCh38]
Chr19:16589945 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.858G>A (p.Leu286=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001400151] Chr19:16482510 [GRCh38]
Chr19:16593321 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.787-8del deletion Hypertrophic cardiomyopathy 19 [RCV001476709] Chr19:16482589 [GRCh38]
Chr19:16593400 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.493-64del deletion not provided [RCV001769749] Chr19:16484179 [GRCh38]
Chr19:16594990 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.493-64dup duplication not provided [RCV001759161] Chr19:16484178..16484179 [GRCh38]
Chr19:16594989..16594990 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.226G>A (p.Ala76Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001950409] Chr19:16490538 [GRCh38]
Chr19:16601349 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.193+1G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002009292] Chr19:16495750 [GRCh38]
Chr19:16606561 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.786+3G>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002022229] Chr19:16482675 [GRCh38]
Chr19:16593486 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.728G>A (p.Trp243Ter) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001988384] Chr19:16482736 [GRCh38]
Chr19:16593547 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.298G>A (p.Glu100Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001982806] Chr19:16490466 [GRCh38]
Chr19:16601277 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.923G>A (p.Arg308Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001871528] Chr19:16480702 [GRCh38]
Chr19:16591513 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.520_527del (p.Leu174fs) deletion Hypertrophic cardiomyopathy 19 [RCV001908617] Chr19:16484081..16484088 [GRCh38]
Chr19:16594892..16594899 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.139G>C (p.Gly47Arg) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001891554] Chr19:16495805 [GRCh38]
Chr19:16606616 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.445C>T (p.His149Tyr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002003835] Chr19:16485210 [GRCh38]
Chr19:16596021 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.535G>T (p.Asp179Tyr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001889997] Chr19:16484073 [GRCh38]
Chr19:16594884 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.384C>G (p.Tyr128Ter) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001912156] Chr19:16490380 [GRCh38]
Chr19:16601191 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.466G>A (p.Glu156Lys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002043698] Chr19:16485189 [GRCh38]
Chr19:16596000 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.500G>A (p.Gly167Asp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001909058] Chr19:16484108 [GRCh38]
Chr19:16594919 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.961G>A (p.Asp321Asn) single nucleotide variant Hypertrophic cardiomyopathy [RCV001843998] Chr19:16480664 [GRCh38]
Chr19:16591475 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.97T>C (p.Trp33Arg) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001889590] Chr19:16495847 [GRCh38]
Chr19:16606658 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.962A>G (p.Asp321Gly) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002000287] Chr19:16480663 [GRCh38]
Chr19:16591474 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.923G>T (p.Arg308Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001943847]|Inborn genetic diseases [RCV003247172] Chr19:16480702 [GRCh38]
Chr19:16591513 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.158C>T (p.Ser53Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001997432] Chr19:16495786 [GRCh38]
Chr19:16606597 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.113T>G (p.Leu38Trp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001972878]|Inborn genetic diseases [RCV002569290] Chr19:16495831 [GRCh38]
Chr19:16606642 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.309G>A (p.Met103Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002038558] Chr19:16490455 [GRCh38]
Chr19:16601266 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.192dup (p.Gly65fs) duplication Hypertrophic cardiomyopathy 19 [RCV002031027] Chr19:16495751..16495752 [GRCh38]
Chr19:16606562..16606563 [GRCh37]
Chr19:19p13.11
uncertain significance
NC_000019.9:g.(?_16601158)_(16601401_?)dup duplication Hypertrophic cardiomyopathy 19 [RCV001943277] Chr19:16601158..16601401 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.277A>G (p.Ile93Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002035822] Chr19:16490487 [GRCh38]
Chr19:16601298 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.421A>G (p.Ile141Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001959371] Chr19:16485234 [GRCh38]
Chr19:16596045 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.602A>G (p.Asn201Ser) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001930635] Chr19:16484006 [GRCh38]
Chr19:16594817 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.-13_5del (p.Met1_Ala2del) deletion Hypertrophic cardiomyopathy 19 [RCV001933361] Chr19:16496125..16496142 [GRCh38]
Chr19:16606936..16606953 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.772_773del (p.Lys258fs) deletion Hypertrophic cardiomyopathy 19 [RCV001901685] Chr19:16482691..16482692 [GRCh38]
Chr19:16593502..16593503 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1067G>A (p.Arg356His) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002014197] Chr19:16479219 [GRCh38]
Chr19:16590030 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.224A>T (p.Tyr75Phe) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001883161] Chr19:16490540 [GRCh38]
Chr19:16601351 [GRCh37]
Chr19:19p13.11
uncertain significance
NC_000019.9:g.(?_16593241)_(16606940_?)dup duplication Hypertrophic cardiomyopathy 19 [RCV001919184] Chr19:16593241..16606940 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.34T>G (p.Cys12Gly) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002014544] Chr19:16496096 [GRCh38]
Chr19:16606907 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.723C>A (p.Ser241Arg) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001959525] Chr19:16482741 [GRCh38]
Chr19:16593552 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.545A>G (p.Tyr182Cys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001932836] Chr19:16484063 [GRCh38]
Chr19:16594874 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.274G>A (p.Val92Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001998043] Chr19:16490490 [GRCh38]
Chr19:16601301 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.703G>A (p.Ala235Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001898953] Chr19:16482761 [GRCh38]
Chr19:16593572 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.786+18A>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002146743] Chr19:16482660 [GRCh38]
Chr19:16593471 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.787-11T>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002149259] Chr19:16482592 [GRCh38]
Chr19:16593403 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.891del (p.Ile297fs) deletion not provided [RCV002224412] Chr19:16482477 [GRCh38]
Chr19:16593288 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.92-1G>A single nucleotide variant not provided [RCV002224489] Chr19:16495853 [GRCh38]
Chr19:16606664 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.786+9C>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002134692] Chr19:16482669 [GRCh38]
Chr19:16593480 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1080G>A (p.Glu360=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002213252] Chr19:16479206 [GRCh38]
Chr19:16590017 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.632C>T (p.Pro211Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV001944951] Chr19:16483976 [GRCh38]
Chr19:16594787 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.493-15C>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002171802] Chr19:16484130 [GRCh38]
Chr19:16594941 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.398-17G>C single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002215487] Chr19:16485274 [GRCh38]
Chr19:16596085 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1095G>A (p.Ser365=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002202199] Chr19:16479191 [GRCh38]
Chr19:16590002 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.627G>A (p.Thr209=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002118314] Chr19:16483981 [GRCh38]
Chr19:16594792 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.777C>A (p.Pro259=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002142010] Chr19:16482687 [GRCh38]
Chr19:16593498 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.849C>T (p.Thr283=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002202470] Chr19:16482519 [GRCh38]
Chr19:16593330 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.387T>C (p.Tyr129=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002137312] Chr19:16490377 [GRCh38]
Chr19:16601188 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.398-9T>C single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002175563] Chr19:16485266 [GRCh38]
Chr19:16596077 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.398-11C>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002098500] Chr19:16485268 [GRCh38]
Chr19:16596079 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.918+16C>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002100465] Chr19:16482434 [GRCh38]
Chr19:16593245 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1011+12G>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002100617] Chr19:16480602 [GRCh38]
Chr19:16591413 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.249G>A (p.Pro83=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002122399] Chr19:16490515 [GRCh38]
Chr19:16601326 [GRCh37]
Chr19:19p13.11
likely benign
NC_000019.9:g.(?_14847048)_(17394124_?)del deletion not provided [RCV003116664] Chr19:14847048..17394124 [GRCh37]
Chr19:19p13.12-13.11
uncertain significance
NM_145046.5(CALR3):c.674C>T (p.Ala225Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002303955] Chr19:16483934 [GRCh38]
Chr19:16594745 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.466G>C (p.Glu156Gln) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003015526] Chr19:16485189 [GRCh38]
Chr19:16596000 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1134T>A (p.Phe378Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002615902] Chr19:16479152 [GRCh38]
Chr19:16589963 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.690G>A (p.Lys230=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002993991] Chr19:16482774 [GRCh38]
Chr19:16593585 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1113C>T (p.His371=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002972352] Chr19:16479173 [GRCh38]
Chr19:16589984 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1011+11C>T single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002995866] Chr19:16480603 [GRCh38]
Chr19:16591414 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.397+7T>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002947331] Chr19:16490360 [GRCh38]
Chr19:16601171 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.397+13G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003076303] Chr19:16490354 [GRCh38]
Chr19:16601165 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.398-20G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002639258] Chr19:16485277 [GRCh38]
Chr19:16596088 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.193+1del deletion Hypertrophic cardiomyopathy 19 [RCV002740482] Chr19:16495750 [GRCh38]
Chr19:16606561 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.896C>T (p.Ala299Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002695943] Chr19:16482472 [GRCh38]
Chr19:16593283 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1002C>T (p.Gly334=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002926733] Chr19:16480623 [GRCh38]
Chr19:16591434 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.604T>C (p.Leu202=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003019189] Chr19:16484004 [GRCh38]
Chr19:16594815 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.724G>C (p.Asp242His) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002659235] Chr19:16482740 [GRCh38]
Chr19:16593551 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.608C>T (p.Thr203Ile) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002620447] Chr19:16484000 [GRCh38]
Chr19:16594811 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.238C>T (p.Arg80Cys) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002999211] Chr19:16490526 [GRCh38]
Chr19:16601337 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.786+14_786+15del deletion Hypertrophic cardiomyopathy 19 [RCV003001947] Chr19:16482663..16482664 [GRCh38]
Chr19:16593474..16593475 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.579C>T (p.Ser193=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002638264] Chr19:16484029 [GRCh38]
Chr19:16594840 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.1064C>T (p.Ala355Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002596223] Chr19:16479222 [GRCh38]
Chr19:16590033 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1043C>A (p.Ala348Asp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002595708] Chr19:16479243 [GRCh38]
Chr19:16590054 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1058A>G (p.Lys353Arg) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003082948] Chr19:16479228 [GRCh38]
Chr19:16590039 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.758C>T (p.Ala253Val) single nucleotide variant Inborn genetic diseases [RCV002709832] Chr19:16482706 [GRCh38]
Chr19:16593517 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.941A>G (p.Asp314Gly) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003085588] Chr19:16480684 [GRCh38]
Chr19:16591495 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.681C>A (p.Asp227Glu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002932687] Chr19:16482783 [GRCh38]
Chr19:16593594 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.623A>C (p.Glu208Ala) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002932115] Chr19:16483985 [GRCh38]
Chr19:16594796 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.517A>G (p.Thr173Ala) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002573863] Chr19:16484091 [GRCh38]
Chr19:16594902 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.667A>G (p.Asn223Asp) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002931980] Chr19:16483941 [GRCh38]
Chr19:16594752 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.1036A>G (p.Ile346Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003009902] Chr19:16479250 [GRCh38]
Chr19:16590061 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.516C>T (p.Tyr172=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003028573] Chr19:16484092 [GRCh38]
Chr19:16594903 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.779C>T (p.Pro260Leu) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003063285] Chr19:16482685 [GRCh38]
Chr19:16593496 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.194-13A>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003089246] Chr19:16490583 [GRCh38]
Chr19:16601394 [GRCh37]
Chr19:19p13.11
benign
NM_145046.5(CALR3):c.397+11G>A single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002630668] Chr19:16490356 [GRCh38]
Chr19:16601167 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.743A>C (p.Asp248Ala) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002938047] Chr19:16482721 [GRCh38]
Chr19:16593532 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.812A>G (p.His271Arg) single nucleotide variant Inborn genetic diseases [RCV002719032] Chr19:16482556 [GRCh38]
Chr19:16593367 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.30C>T (p.Ala10=) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003069845] Chr19:16496100 [GRCh38]
Chr19:16606911 [GRCh37]
Chr19:19p13.11
likely benign
NM_145046.5(CALR3):c.587T>C (p.Ile196Thr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002586616] Chr19:16484021 [GRCh38]
Chr19:16594832 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.860C>T (p.Thr287Met) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003071635] Chr19:16482508 [GRCh38]
Chr19:16593319 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.580G>A (p.Gly194Ser) single nucleotide variant Inborn genetic diseases [RCV002652667] Chr19:16484028 [GRCh38]
Chr19:16594839 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.992C>T (p.Ala331Val) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV002603404]|Inborn genetic diseases [RCV002603403] Chr19:16480633 [GRCh38]
Chr19:16591444 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.418G>T (p.Asp140Tyr) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003073079] Chr19:16485237 [GRCh38]
Chr19:16596048 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.58A>G (p.Thr20Ala) single nucleotide variant not specified [RCV003331672] Chr19:16496072 [GRCh38]
Chr19:16606883 [GRCh37]
Chr19:19p13.11
uncertain significance
GRCh37/hg19 19p13.12-13.11(chr19:14888106-17360864)x3 copy number gain not provided [RCV003485195] Chr19:14888106..17360864 [GRCh37]
Chr19:19p13.12-13.11
uncertain significance
NM_145046.5(CALR3):c.194-3A>G single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003878105] Chr19:16490573 [GRCh38]
Chr19:16601384 [GRCh37]
Chr19:19p13.11
uncertain significance
NM_145046.5(CALR3):c.766C>T (p.Leu256Phe) single nucleotide variant Hypertrophic cardiomyopathy 19 [RCV003879347] Chr19:16482698 [GRCh38]
Chr19:16593509 [GRCh37]
Chr19:19p13.11
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:366
Count of miRNA genes:323
Interacting mature miRNAs:347
Transcripts:ENST00000269881, ENST00000600762, ENST00000602234
Prediction methods:Miranda, Rnahybrid
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1 1 1 366 1
Low 11 3 13 6 33 5 101 4 9 1 69 31 1 4 11
Below cutoff 913 999 970 349 869 267 1979 793 1565 172 501 819 88 493 1241 2

Sequence


RefSeq Acc Id: ENST00000269881   ⟹   ENSP00000269881
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1916,479,061 - 16,496,167 (-)Ensembl
RefSeq Acc Id: ENST00000600762   ⟹   ENSP00000471533
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1916,483,969 - 16,496,119 (-)Ensembl
RefSeq Acc Id: ENST00000602234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1916,482,454 - 16,484,113 (-)Ensembl
RefSeq Acc Id: NM_145046   ⟹   NP_659483
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,479,061 - 16,496,167 (-)NCBI
GRCh371916,589,767 - 16,607,015 (-)NCBI
Build 361916,450,887 - 16,468,003 (-)NCBI Archive
Celera1916,491,740 - 16,508,840 (-)RGD
HuRef1916,158,784 - 16,175,504 (-)NCBI
CHM1_11916,589,388 - 16,606,484 (-)NCBI
T2T-CHM13v2.01916,613,878 - 16,630,953 (-)NCBI
Sequence:
RefSeq Acc Id: NP_659483   ⟸   NM_145046
- Peptide Label: precursor
- UniProtKB: D9N574 (UniProtKB/Swiss-Prot),   Q96LN3 (UniProtKB/Swiss-Prot),   Q96L12 (UniProtKB/Swiss-Prot),   A0A140VJF7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000269881   ⟸   ENST00000269881
RefSeq Acc Id: ENSP00000471533   ⟸   ENST00000600762

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q96L12-F1-model_v2 AlphaFold Q96L12 1-384 view protein structure

Promoters
RGD ID:6795238
Promoter ID:HG_KWN:29206
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_032207,   NM_145046,   UC002NEF.1,   UC002NEG.2,   UC010EAI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361916,467,699 - 16,468,199 (-)MPROMDB
RGD ID:7238943
Promoter ID:EPDNEW_H25218
Type:single initiation site
Name:CALR3_2
Description:calreticulin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25219  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,485,267 - 16,485,327EPDNEW
RGD ID:7238947
Promoter ID:EPDNEW_H25219
Type:initiation region
Name:CALR3_1
Description:calreticulin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H25218  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381916,496,213 - 16,496,273EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:20407 AgrOrtholog
COSMIC CALR3 COSMIC
Ensembl Genes ENSG00000269058 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269881 ENTREZGENE
  ENST00000269881.8 UniProtKB/Swiss-Prot
  ENST00000600762.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.120.200 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000269058 GTEx
HGNC ID HGNC:20407 ENTREZGENE
Human Proteome Map CALR3 Human Proteome Map
InterPro Calret/calnex UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calret/calnex_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calreticulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Calreticulin/calnexin_P_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ConA-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:125972 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 125972 ENTREZGENE
OMIM 611414 OMIM
PANTHER CALRETICULIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Calreticulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134922944 PharmGKB
PIRSF Calreticulin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS CALRETICULIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CALRETICULIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CALRETICULIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ER_TARGET UniProtKB/Swiss-Prot
Superfamily-SCOP SSF49899 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF63887 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A140VJF7 ENTREZGENE, UniProtKB/TrEMBL
  A0A7R6RQ58_HUMAN UniProtKB/TrEMBL
  CALR3_HUMAN UniProtKB/Swiss-Prot
  D9N574 ENTREZGENE
  M0R0Y8_HUMAN UniProtKB/TrEMBL
  Q96L12 ENTREZGENE
  Q96LN3 ENTREZGENE
UniProt Secondary D9N574 UniProtKB/Swiss-Prot
  Q96LN3 UniProtKB/Swiss-Prot