RBM20 (RNA binding motif protein 20) - Rat Genome Database

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Gene: RBM20 (RNA binding motif protein 20) Homo sapiens
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Symbol: RBM20
Name: RNA binding motif protein 20
RGD ID: 1316618
HGNC Page HGNC:27424
Description: Enables pre-mRNA intronic binding activity and splicing factor binding activity. Involved in heart formation; regulation of RNA splicing; and spliceosome-depend formation of circular RNA. Located in cytoplasmic ribonucleoprotein granule. Is active in nucleus. Implicated in dilated cardiomyopathy and dilated cardiomyopathy 1DD.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: probable RNA-binding protein 20; RNA-binding motif protein 20; RNA-binding protein 20; truncated RNA binding motif protein 20
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
GRCh3810110,643,245 - 110,839,468 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10110,644,336 - 110,839,471 (+)EnsemblGRCh38hg38GRCh38
GRCh3710112,404,094 - 112,599,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610112,394,203 - 112,589,217 (+)NCBINCBI36Build 36hg18NCBI36
Celera10106,135,726 - 106,330,820 (+)NCBICelera
Cytogenetic Map10q25.2NCBI
HuRef10106,033,283 - 106,228,064 (+)NCBIHuRef
CHM1_110112,685,947 - 112,881,061 (+)NCBICHM1_1
T2T-CHM13v2.010111,526,746 - 111,723,237 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy. Brauch KM, etal., J Am Coll Cardiol. 2009 Sep 1;54(10):930-41. doi: 10.1016/j.jacc.2009.05.038.
2. RBM20, a gene for hereditary cardiomyopathy, regulates titin splicing. Guo W, etal., Nat Med. 2012 May;18(5):766-73. doi: 10.1038/nm.2693.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:19712805   PMID:20301486   PMID:20379614   PMID:20590677   PMID:21846512   PMID:21873635   PMID:22004663   PMID:22561820   PMID:23861363   PMID:23886709   PMID:24584570   PMID:24960161  
PMID:26604136   PMID:26638075   PMID:26972000   PMID:27396593   PMID:27496873   PMID:27531932   PMID:27880917   PMID:28941705   PMID:29395067   PMID:29507755   PMID:29518215   PMID:29650543  
PMID:29895960   PMID:29987050   PMID:30262925   PMID:30468920   PMID:30557877   PMID:30871351   PMID:30948719   PMID:31583969   PMID:32276354   PMID:32296183   PMID:32344865   PMID:32840935  
PMID:32877691   PMID:33188278   PMID:33450993   PMID:34079125   PMID:34174465   PMID:34201072   PMID:34333030   PMID:34709266   PMID:34732726   PMID:35016035   PMID:35041844   PMID:35140242  
PMID:35427468   PMID:36140694   PMID:36198914   PMID:36724073   PMID:36897256   PMID:37593875   PMID:37689310   PMID:37905768   PMID:38580884   PMID:38777146   PMID:39250314  


Genomics

Comparative Map Data
RBM20
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3810110,643,245 - 110,839,468 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl10110,644,336 - 110,839,471 (+)EnsemblGRCh38hg38GRCh38
GRCh3710112,404,094 - 112,599,226 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3610112,394,203 - 112,589,217 (+)NCBINCBI36Build 36hg18NCBI36
Celera10106,135,726 - 106,330,820 (+)NCBICelera
Cytogenetic Map10q25.2NCBI
HuRef10106,033,283 - 106,228,064 (+)NCBIHuRef
CHM1_110112,685,947 - 112,881,061 (+)NCBICHM1_1
T2T-CHM13v2.010111,526,746 - 111,723,237 (+)NCBIT2T-CHM13v2.0
Rbm20
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391953,649,422 - 53,855,514 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1953,665,737 - 53,855,511 (+)EnsemblGRCm39 Ensembl
GRCm381953,660,989 - 53,867,083 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1953,677,306 - 53,867,080 (+)EnsemblGRCm38mm10GRCm38
MGSCv371953,751,796 - 53,941,570 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361953,730,363 - 53,919,025 (+)NCBIMGSCv36mm8
MGSCv361953,676,844 - 53,880,034 (+)NCBIMGSCv36mm8
Celera1955,870,376 - 56,061,918 (+)NCBICelera
Cytogenetic Map19D2NCBI
cM Map1948.28NCBI
Rbm20
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81262,671,311 - 262,912,551 (+)NCBIGRCr8
mRatBN7.21252,683,760 - 252,907,465 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1252,683,771 - 252,886,060 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1260,872,977 - 261,075,647 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01267,579,046 - 267,781,723 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01260,234,755 - 260,437,091 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01274,391,932 - 274,589,816 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1274,391,932 - 274,589,816 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01281,783,646 - 282,003,053 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41259,905,545 - 260,144,190 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11260,300,378 - 260,352,579 (+)NCBI
Celera1248,402,941 - 248,600,603 (+)NCBICelera
Cytogenetic Map1q55NCBI
Rbm20
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955485586,373 - 769,635 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955485590,094 - 769,604 (-)NCBIChiLan1.0ChiLan1.0
RBM20
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v28122,528,458 - 122,721,290 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan110122,533,794 - 122,726,626 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v010107,240,854 - 107,433,749 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.110110,767,653 - 110,882,909 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl10110,822,255 - 110,882,909 (+)Ensemblpanpan1.1panPan2
RBM20
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12821,971,424 - 22,162,798 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2821,971,504 - 22,161,476 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2822,243,625 - 22,314,911 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02822,616,330 - 22,687,337 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2822,496,586 - 22,687,315 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12822,175,756 - 22,246,804 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02822,182,299 - 22,253,611 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02822,316,433 - 22,387,379 (+)NCBIUU_Cfam_GSD_1.0
Rbm20
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440721323,908,959 - 24,089,243 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364861,472,227 - 1,653,209 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364861,472,170 - 1,652,314 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
RBM20
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl14121,210,666 - 121,269,823 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.114121,058,896 - 121,269,824 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.214131,944,861 - 132,146,766 (+)NCBISscrofa10.2Sscrofa10.2susScr3
RBM20
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.19103,583,722 - 103,775,391 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl9103,703,569 - 103,777,934 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604864,923,022 - 64,982,689 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Rbm20
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473735,477,521 - 35,545,242 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473735,479,621 - 35,660,357 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in RBM20
1899 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001134363.3(RBM20):c.1899G>A (p.Pro633=) single nucleotide variant Cardiovascular phenotype [RCV002413584]|Dilated cardiomyopathy 1DD [RCV001105242]|not specified [RCV003987599] Chr10:110812296 [GRCh38]
Chr10:112572054 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3314C>T (p.Pro1105Leu) single nucleotide variant Cardiovascular phenotype [RCV003159879]|Dilated cardiomyopathy 1DD [RCV000526808]|not provided [RCV002286757] Chr10:110821933 [GRCh38]
Chr10:112581691 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1201G>A (p.Asp401Asn) single nucleotide variant Cardiovascular phenotype [RCV002350324]|Dilated cardiomyopathy 1DD [RCV000544357] Chr10:110781810 [GRCh38]
Chr10:112541568 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.43G>A (p.Gly15Ser) single nucleotide variant Cardiovascular phenotype [RCV004024147]|Dilated cardiomyopathy 1DD [RCV000546781] Chr10:110644497 [GRCh38]
Chr10:112404255 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.933G>C (p.Leu311=) single nucleotide variant Cardiovascular phenotype [RCV002377123]|Dilated cardiomyopathy 1DD [RCV000547750]|not provided [RCV001700150] Chr10:110781542 [GRCh38]
Chr10:112541300 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3517G>A (p.Glu1173Lys) single nucleotide variant Cardiovascular phenotype [RCV002456184]|Dilated cardiomyopathy 1DD [RCV000532749]|Primary dilated cardiomyopathy [RCV001293071] Chr10:110831126 [GRCh38]
Chr10:112590884 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu) single nucleotide variant Cardiovascular phenotype [RCV000619200]|Dilated cardiomyopathy 1A [RCV001256960]|Dilated cardiomyopathy 1DD [RCV000000292]|Dilated cardiomyopathy 1S [RCV000490927]|Primary dilated cardiomyopathy [RCV000211851]|RBM20-related disorder [RCV003407245]|not provided [RCV000183865] Chr10:110812310 [GRCh38]
Chr10:112572068 [GRCh37]
Chr10:10q25.2		 pathogenic
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) single nucleotide variant Cardiovascular phenotype [RCV002408443]|Dilated cardiomyopathy 1DD [RCV000000293]|not provided [RCV000183859] Chr10:110812298 [GRCh38]
Chr10:112572056 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser) single nucleotide variant Cardiovascular phenotype [RCV003338375]|Dilated cardiomyopathy 1DD [RCV000000294]|Primary dilated cardiomyopathy [RCV000208477]|not provided [RCV000183860] Chr10:110812303 [GRCh38]
Chr10:112572061 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His) single nucleotide variant Cardiomyopathy [RCV000852423]|Cardiovascular phenotype [RCV002408444]|Dilated cardiomyopathy 1DD [RCV000000295]|Primary dilated cardiomyopathy [RCV000157430]|Primary familial dilated cardiomyopathy [RCV000622325]|RBM20-related disorder [RCV004751187]|not provided [RCV000183862] Chr10:110812304 [GRCh38]
Chr10:112572062 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly) single nucleotide variant Cardiovascular phenotype [RCV002408445]|Dilated cardiomyopathy 1DD [RCV000000296]|not provided [RCV001753393] Chr10:110812306 [GRCh38]
Chr10:112572064 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.2592_2595del (p.Ser865fs) deletion not provided [RCV001544889] Chr10:110820110..110820113 [GRCh38]
Chr10:112579868..112579871 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1858G>A (p.Asp620Asn) single nucleotide variant Cardiomyopathy [RCV000769262]|Cardiovascular phenotype [RCV002413583]|Dilated cardiomyopathy 1DD [RCV000547939] Chr10:110810440 [GRCh38]
Chr10:112570198 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3023G>A (p.Arg1008Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000526040] Chr10:110821642 [GRCh38]
Chr10:112581400 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2271C>T (p.Asp757=) single nucleotide variant Cardiovascular phenotype [RCV002448740]|Dilated cardiomyopathy 1DD [RCV000546224] Chr10:110812668 [GRCh38]
Chr10:112572426 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2172C>T (p.Asp724=) single nucleotide variant Cardiovascular phenotype [RCV000621070]|Dilated cardiomyopathy 1DD [RCV000553506]|not provided [RCV001696998] Chr10:110812569 [GRCh38]
Chr10:112572327 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.-6C>T single nucleotide variant not provided [RCV002305441]|not specified [RCV000036934] Chr10:110644449 [GRCh38]
Chr10:112404207 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1027C>T (p.His343Tyr) single nucleotide variant Cardiovascular phenotype [RCV002381302]|Dilated cardiomyopathy 1A [RCV001256893]|Dilated cardiomyopathy 1DD [RCV000686647]|Primary dilated cardiomyopathy [RCV000157428]|not provided [RCV000994506]|not specified [RCV000036935] Chr10:110781636 [GRCh38]
Chr10:112541394 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1056C>G (p.Pro352=) single nucleotide variant Cardiovascular phenotype [RCV003338389]|Dilated cardiomyopathy 1DD [RCV001501368]|not specified [RCV000036936] Chr10:110781665 [GRCh38]
Chr10:112541423 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1080A>T (p.Thr360=) single nucleotide variant Cardiovascular phenotype [RCV004984662]|Dilated cardiomyopathy 1DD [RCV005089351]|not specified [RCV000036937] Chr10:110781689 [GRCh38]
Chr10:112541447 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) single nucleotide variant Cardiomyopathy [RCV001170721]|Cardiovascular phenotype [RCV000619605]|Dilated cardiomyopathy 1DD [RCV000228395]|RBM20-related disorder [RCV003924913]|not provided [RCV001701574]|not specified [RCV000036938] Chr10:110781788 [GRCh38]
Chr10:112541546 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1209C>T (p.His403=) single nucleotide variant Cardiovascular phenotype [RCV002354192]|Dilated cardiomyopathy 1DD [RCV001435766]|not specified [RCV000036939] Chr10:110781818 [GRCh38]
Chr10:112541576 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1275+13A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000603199]|not specified [RCV000036940] Chr10:110781897 [GRCh38]
Chr10:112541655 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) single nucleotide variant Cardiomyopathy [RCV000770278]|Cardiovascular phenotype [RCV000622000]|Dilated cardiomyopathy 1DD [RCV000234102]|not provided [RCV000757719]|not specified [RCV000036941] Chr10:110783376 [GRCh38]
Chr10:112543134 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) microsatellite Cardiomyopathy [RCV000183890]|Cardiovascular phenotype [RCV000617613]|Dilated Cardiomyopathy, Dominant [RCV000392741]|Dilated cardiomyopathy 1DD [RCV000231300]|not provided [RCV001729363]|not specified [RCV000036942] Chr10:110644576..110644577 [GRCh38]
Chr10:112404334..112404335 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) single nucleotide variant Cardiomyopathy [RCV000770279]|Cardiovascular phenotype [RCV000242401]|Dilated cardiomyopathy 1DD [RCV000229126]|Long QT syndrome [RCV000852630]|Primary dilated cardiomyopathy [RCV000148767]|not provided [RCV003221791]|not specified [RCV000036943] Chr10:110784367 [GRCh38]
Chr10:112544125 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1458C>T (p.Tyr486=) single nucleotide variant Cardiomyopathy [RCV001798111]|Cardiovascular phenotype [RCV002390147]|Dilated cardiomyopathy 1DD [RCV000473670]|not provided [RCV001711117]|not specified [RCV000036944] Chr10:110784820 [GRCh38]
Chr10:112544578 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1459G>A (p.Val487Met) single nucleotide variant Cardiovascular phenotype [RCV003338390]|Dilated cardiomyopathy 1DD [RCV000798619]|not specified [RCV000036945] Chr10:110784821 [GRCh38]
Chr10:112544579 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) single nucleotide variant Cardiomyopathy [RCV001170718]|Cardiovascular phenotype [RCV000621385]|Dilated cardiomyopathy 1DD [RCV000226340]|Primary dilated cardiomyopathy [RCV003125851]|not provided [RCV001727523]|not specified [RCV000036946] Chr10:110644604 [GRCh38]
Chr10:112404362 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.1527+8C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000360651]|Primary dilated cardiomyopathy [RCV003125852]|not provided [RCV004717913]|not specified [RCV000036947] Chr10:110784897 [GRCh38]
Chr10:112544655 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1633G>A (p.Val545Ile) single nucleotide variant Cardiovascular phenotype [RCV002390148]|Dilated cardiomyopathy 1DD [RCV000695267]|not provided [RCV000766687]|not specified [RCV000036948] Chr10:110797613 [GRCh38]
Chr10:112557371 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1801-11G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000615716]|not provided [RCV004704820]|not specified [RCV000036949] Chr10:110810372 [GRCh38]
Chr10:112570130 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1880+4_1880+6dup duplication Cardiomyopathy [RCV001170925]|Cardiovascular phenotype [RCV000618301]|Dilated Cardiomyopathy, Dominant [RCV000271797]|Dilated cardiomyopathy 1DD [RCV000475809]|Primary familial hypertrophic cardiomyopathy [RCV000157429]|not provided [RCV001529848]|not specified [RCV000036950] Chr10:110810464..110810465 [GRCh38]
Chr10:112570222..112570223 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1881-3C>T single nucleotide variant Cardiomyopathy [RCV000769263]|Cardiovascular phenotype [RCV000248544]|Dilated cardiomyopathy 1DD [RCV000232795]|not specified [RCV000036951] Chr10:110812275 [GRCh38]
Chr10:112572033 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys) single nucleotide variant Cardiovascular phenotype [RCV002408510]|Dilated cardiomyopathy 1DD [RCV000170520]|not provided [RCV000225732]|not specified [RCV000036953] Chr10:110812303 [GRCh38]
Chr10:112572061 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) single nucleotide variant Cardiomyopathy [RCV000769264]|Cardiovascular phenotype [RCV000243396]|Dilated cardiomyopathy 1DD [RCV000999975]|not provided [RCV004704821]|not specified [RCV000036956] Chr10:110812311 [GRCh38]
Chr10:112572069 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1973C>G (p.Ser658Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000691864]|Primary familial dilated cardiomyopathy [RCV000845397]|not specified [RCV000036957] Chr10:110812370 [GRCh38]
Chr10:112572128 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) single nucleotide variant Cardiomyopathy [RCV000769268]|Cardiovascular phenotype [RCV000621531]|Dilated cardiomyopathy 1DD [RCV000475115]|not provided [RCV001705665]|not specified [RCV000036958] Chr10:110812389 [GRCh38]
Chr10:112572147 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) single nucleotide variant Cardiovascular phenotype [RCV004018822]|Dilated cardiomyopathy 1DD [RCV001371237]|not provided [RCV000766691]|not specified [RCV000036959] Chr10:110812414 [GRCh38]
Chr10:112572172 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2108G>A (p.Arg703Lys) single nucleotide variant Cardiomyopathy [RCV003149631]|Dilated cardiomyopathy 1DD [RCV002513454]|not specified [RCV000036960] Chr10:110812505 [GRCh38]
Chr10:112572263 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) single nucleotide variant Cardiomyopathy [RCV000769270]|Cardiovascular phenotype [RCV004018823]|Dilated cardiomyopathy 1DD [RCV000468499]|Primary dilated cardiomyopathy [RCV000148766]|not provided [RCV000766693]|not specified [RCV000036961] Chr10:110812544 [GRCh38]
Chr10:112572302 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2213C>T (p.Pro738Leu) single nucleotide variant Cardiovascular phenotype [RCV002426560]|Dilated cardiomyopathy 1DD [RCV000863923]|RBM20-related disorder [RCV003944901]|not provided [RCV001703878]|not specified [RCV000036962] Chr10:110812610 [GRCh38]
Chr10:112572368 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) single nucleotide variant Cardiomyopathy [RCV000769272]|Cardiovascular phenotype [RCV000247863]|Dilated cardiomyopathy 1DD [RCV000464527]|not specified [RCV000036963] Chr10:110812700 [GRCh38]
Chr10:112572458 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2333C>T (p.Ala778Val) single nucleotide variant Cardiomyopathy [RCV003486559]|Cardiovascular phenotype [RCV004018824]|Dilated cardiomyopathy 1DD [RCV001223784]|Hypertrophic cardiomyopathy [RCV000853463]|RBM20-related disorder [RCV003415771]|not specified [RCV000036964] Chr10:110812730 [GRCh38]
Chr10:112572488 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2452G>T (p.Ala818Ser) single nucleotide variant Cardiomyopathy [RCV001170927]|Cardiovascular phenotype [RCV002444475]|Dilated cardiomyopathy 1DD [RCV001083431]|not provided [RCV000845312]|not specified [RCV000036965] Chr10:110812849 [GRCh38]
Chr10:112572607 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2551G>A (p.Ala851Thr) single nucleotide variant Cardiovascular phenotype [RCV000620574]|Dilated cardiomyopathy 1DD [RCV000231369]|not provided [RCV001560424]|not specified [RCV000036966] Chr10:110820072 [GRCh38]
Chr10:112579830 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2565_2570del (p.Gln856_Glu857del) deletion Cardiovascular phenotype [RCV002426561]|Dilated cardiomyopathy 1DD [RCV000692555]|Hypertrophic cardiomyopathy [RCV000852631]|Ventricular fibrillation, paroxysmal familial, type 1 [RCV000157435]|not specified [RCV000036967] Chr10:110820082..110820087 [GRCh38]
Chr10:112579840..112579845 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2655+15A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000280358]|not provided [RCV001725121]|not specified [RCV000036968] Chr10:110820191 [GRCh38]
Chr10:112579949 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2723T>C (p.Leu908Pro) single nucleotide variant Cardiovascular phenotype [RCV003343610]|Dilated cardiomyopathy 1DD [RCV005089352]|not specified [RCV000036969] Chr10:110821342 [GRCh38]
Chr10:112581100 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) single nucleotide variant Cardiomyopathy [RCV000769273]|Cardiovascular phenotype [RCV000617547]|Dilated cardiomyopathy 1DD [RCV000228639]|Hypertrophic cardiomyopathy [RCV005054145]|Primary dilated cardiomyopathy [RCV000210896]|Primary dilated cardiomyopathy [RCV000852632]|RBM20-related disorder [RCV003924914]|not provided [RCV001573531]|not specified [RCV000036970] Chr10:110821281 [GRCh38]
Chr10:112581039 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2664T>C (p.Asp888=) single nucleotide variant Cardiovascular phenotype [RCV000252801]|Dilated cardiomyopathy 1DD [RCV000951595]|not specified [RCV000036971] Chr10:110821283 [GRCh38]
Chr10:112581041 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2728A>C (p.Thr910Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000230287]|not provided [RCV000766695]|not specified [RCV000036972] Chr10:110821347 [GRCh38]
Chr10:112581105 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2737G>A (p.Glu913Lys) single nucleotide variant Cardiomyopathy [RCV000769275]|Cardiovascular phenotype [RCV002433499]|Dilated cardiomyopathy 1DD [RCV000647156]|Left ventricular noncompaction cardiomyopathy [RCV002054621]|Primary dilated cardiomyopathy [RCV000036973]|not provided [RCV000497300] Chr10:110821356 [GRCh38]
Chr10:112581114 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.2761A>G (p.Ile921Val) single nucleotide variant Cardiomyopathy [RCV000201452]|Cardiovascular phenotype [RCV004018825]|Dilated cardiomyopathy 1DD [RCV000647154]|not provided [RCV000766482]|not specified [RCV000036974] Chr10:110821380 [GRCh38]
Chr10:112581138 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2784G>A (p.Glu928=) single nucleotide variant not specified [RCV000036975] Chr10:110821403 [GRCh38]
Chr10:112581161 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3022C>T (p.Arg1008Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001051910]|not specified [RCV000036976] Chr10:110821641 [GRCh38]
Chr10:112581399 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.313C>T (p.Leu105=) single nucleotide variant Cardiovascular phenotype [RCV004984663]|Dilated cardiomyopathy 1DD [RCV001453303]|not specified [RCV000036977] Chr10:110780922 [GRCh38]
Chr10:112540680 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) single nucleotide variant Cardiomyopathy [RCV000770281]|Cardiovascular phenotype [RCV000248347]|Dilated cardiomyopathy 1DD [RCV000463946]|not provided [RCV004706456]|not specified [RCV000036978] Chr10:110821763 [GRCh38]
Chr10:112581521 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) single nucleotide variant Cardiomyopathy [RCV000770282]|Cardiovascular phenotype [RCV000619887]|Dilated cardiomyopathy 1DD [RCV000225935]|not provided [RCV001705666]|not specified [RCV000036979] Chr10:110821789 [GRCh38]
Chr10:112581547 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.3183A>G (p.Pro1061=) single nucleotide variant not specified [RCV000036980] Chr10:110821802 [GRCh38]
Chr10:112581560 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) single nucleotide variant Cardiomyopathy [RCV001170931]|Cardiovascular phenotype [RCV000252850]|Dilated cardiomyopathy 1DD [RCV000467697]|not provided [RCV001727524]|not specified [RCV000036981] Chr10:110821884 [GRCh38]
Chr10:112581642 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3366G>A (p.Glu1122=) single nucleotide variant Cardiomyopathy [RCV003149632]|Cardiovascular phenotype [RCV004984664]|Dilated cardiomyopathy 1DD [RCV003495106]|not specified [RCV000036982] Chr10:110823529 [GRCh38]
Chr10:112583287 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3372T>C (p.Thr1124=) single nucleotide variant Cardiovascular phenotype [RCV004018826]|Dilated cardiomyopathy 1DD [RCV001468341]|not specified [RCV000036983] Chr10:110823535 [GRCh38]
Chr10:112583293 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852634]|Cardiomyopathy [RCV000770284]|Cardiovascular phenotype [RCV000252174]|Dilated cardiomyopathy 1DD [RCV000226115]|not provided [RCV000857871]|not specified [RCV000036984] Chr10:110823536 [GRCh38]
Chr10:112583294 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3451+10AC[2] microsatellite Dilated cardiomyopathy 1DD [RCV005089353]|not specified [RCV000036985] Chr10:110823624..110823625 [GRCh38]
Chr10:112583382..112583383 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3452-10C>T single nucleotide variant Cardiomyopathy [RCV000770285]|Dilated cardiomyopathy 1DD [RCV000230014]|Hypertrophic cardiomyopathy [RCV000852635]|not specified [RCV000036986] Chr10:110831051 [GRCh38]
Chr10:112590809 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3452-9= single nucleotide variant Dilated cardiomyopathy 1DD [RCV000614182]|not provided [RCV004717914]|not specified [RCV000036987] Chr10:110831052 [GRCh38]
Chr10:112590810 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3574-7T>G single nucleotide variant Cardiomyopathy [RCV000770287]|Dilated cardiomyopathy 1DD [RCV000698717]|not specified [RCV000036988] Chr10:110835861 [GRCh38]
Chr10:112595619 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3603C>G (p.Gly1201=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001463057]|not specified [RCV000036989] Chr10:110835897 [GRCh38]
Chr10:112595655 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3623C>T (p.Ala1208Val) single nucleotide variant Cardiovascular phenotype [RCV004668753]|Dilated cardiomyopathy 1DD [RCV000803243]|not provided [RCV001719738]|not specified [RCV000036990] Chr10:110835917 [GRCh38]
Chr10:112595675 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3667G>C (p.Glu1223Gln) single nucleotide variant Cardiovascular phenotype [RCV000253753]|Dilated cardiomyopathy 1DD [RCV000614817]|Primary dilated cardiomyopathy [RCV003125853]|not provided [RCV004717915]|not specified [RCV000036991] Chr10:110835961 [GRCh38]
Chr10:112595719 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.441C>A (p.His147Gln) single nucleotide variant not specified [RCV000036992] Chr10:110781050 [GRCh38]
Chr10:112540808 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) single nucleotide variant Cardiomyopathy [RCV000770272]|Cardiovascular phenotype [RCV000618530]|Dilated cardiomyopathy 1DD [RCV000469728]|Familial dilated cardiomyopathy and peripheral neuropathy [RCV000852627]|RBM20-related disorder [RCV003944902]|not provided [RCV003311666]|not specified [RCV000036993] Chr10:110781057 [GRCh38]
Chr10:112540815 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.465T>C (p.His155=) single nucleotide variant not specified [RCV000036994] Chr10:110781074 [GRCh38]
Chr10:112540832 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) single nucleotide variant Cardiomyopathy [RCV000770273]|Cardiovascular phenotype [RCV000248470]|Dilated cardiomyopathy 1DD [RCV000465419]|not provided [RCV004706457]|not specified [RCV000036995] Chr10:110781126 [GRCh38]
Chr10:112540884 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) single nucleotide variant Cardiomyopathy [RCV000770274]|Cardiovascular phenotype [RCV002345292]|Dilated cardiomyopathy 1DD [RCV001086084]|RBM20-related disorder [RCV003952426]|not provided [RCV000724064]|not specified [RCV000036996] Chr10:110781138 [GRCh38]
Chr10:112540896 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.544C>A (p.Pro182Thr) single nucleotide variant Cardiomyopathy [RCV000770275]|Cardiovascular phenotype [RCV000620221]|Dilated cardiomyopathy 1DD [RCV000558953]|Primary familial dilated cardiomyopathy [RCV000623345]|not provided [RCV000766683]|not specified [RCV000036997] Chr10:110781153 [GRCh38]
Chr10:112540911 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.530C>G (p.Thr177Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000543574]|not specified [RCV000036998] Chr10:110781139 [GRCh38]
Chr10:112540897 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) single nucleotide variant Cardiomyopathy [RCV000852628]|Cardiovascular phenotype [RCV000620938]|Dilated cardiomyopathy 1DD [RCV001086043]|not provided [RCV000723940]|not specified [RCV000036999] Chr10:110781139 [GRCh38]
Chr10:112540897 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) single nucleotide variant Cardiomyopathy [RCV000770277]|Cardiovascular phenotype [RCV000254256]|Dilated cardiomyopathy 1DD [RCV000460888]|not provided [RCV004704822]|not specified [RCV000037000] Chr10:110781304 [GRCh38]
Chr10:112541062 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.746G>T (p.Gly249Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003764670]|not specified [RCV000037001] Chr10:110781355 [GRCh38]
Chr10:112541113 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.831C>G (p.Ala277=) single nucleotide variant not specified [RCV000037002] Chr10:110781440 [GRCh38]
Chr10:112541198 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.850G>A (p.Gly284Arg) single nucleotide variant Cardiomyopathy [RCV001170719]|Cardiovascular phenotype [RCV000618197]|Dilated cardiomyopathy 1DD [RCV000458367]|not provided [RCV000766684]|not specified [RCV000037003] Chr10:110781459 [GRCh38]
Chr10:112541217 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.90G>A (p.Arg30=) single nucleotide variant Cardiomyopathy [RCV000770269]|Cardiovascular phenotype [RCV000244584]|Dilated cardiomyopathy 1DD [RCV000351361]|Primary dilated cardiomyopathy [RCV003125854]|not provided [RCV004717916]|not specified [RCV000037004] Chr10:110644544 [GRCh38]
Chr10:112404302 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.925G>A (p.Gly309Arg) single nucleotide variant Cardiomyopathy [RCV000852422]|Cardiovascular phenotype [RCV003162321]|Dilated cardiomyopathy 1DD [RCV000647158]|not provided [RCV000786397]|not specified [RCV000037005] Chr10:110781534 [GRCh38]
Chr10:112541292 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3 copy number gain See cases [RCV000050747] Chr10:95112607..116776637 [GRCh38]
Chr10:96872364..118383651 [GRCh37]
Chr10:96862354..118526138 [NCBI36]
Chr10:10q23.33-25.3		 pathogenic
GRCh38/hg38 10q25.1-26.11(chr10:107191100-118761489)x1 copy number loss See cases [RCV000052570] Chr10:107191100..118761489 [GRCh38]
Chr10:108950858..120521001 [GRCh37]
Chr10:108940848..120510991 [NCBI36]
Chr10:10q25.1-26.11		 pathogenic
GRCh38/hg38 10q23.31-26.3(chr10:91048545-133620674)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053560]|See cases [RCV000053560] Chr10:91048545..133620674 [GRCh38]
Chr10:92808302..135434178 [GRCh37]
Chr10:92798282..135284168 [NCBI36]
Chr10:10q23.31-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3 copy number gain See cases [RCV000053564] Chr10:100194215..132432797 [GRCh38]
Chr10:101953972..134246301 [GRCh37]
Chr10:101943962..134096291 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.1-26.3(chr10:106925303-133620815)x3 copy number gain See cases [RCV000053588] Chr10:106925303..133620815 [GRCh38]
Chr10:108685061..135434319 [GRCh37]
Chr10:108675051..135284309 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
NM_001134363.2(RBM20):c.191+67841G>C single nucleotide variant Lung cancer [RCV000108643] Chr10:110712486 [GRCh38]
Chr10:112472244 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.2(RBM20):c.192-41016C>A single nucleotide variant Lung cancer [RCV000108644] Chr10:110739785 [GRCh38]
Chr10:112499543 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.146_147del (p.Gln49fs) deletion not provided [RCV001725885]|not specified [RCV001725886] Chr10:110644600..110644601 [GRCh38]
Chr10:112404358..112404359 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.523A>C (p.Ser175Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV000999602] Chr10:110781132 [GRCh38]
Chr10:112540890 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.255A>C (p.Ser85=) single nucleotide variant not specified [RCV000127732] Chr10:110780864 [GRCh38]
Chr10:112540622 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) single nucleotide variant Cardiomyopathy [RCV000769267]|Cardiovascular phenotype [RCV000253168]|Dilated cardiomyopathy 1DD [RCV000232829]|RBM20-related disorder [RCV003935204]|not provided [RCV000857911]|not specified [RCV000156392] Chr10:110812383 [GRCh38]
Chr10:112572141 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2303= (p.Ser768=) single nucleotide variant Cardiomyopathy [RCV000769271]|Cardiovascular phenotype [RCV000248729]|Dilated cardiomyopathy 1DD [RCV000606761]|not provided [RCV004718019]|not specified [RCV000151730] Chr10:110812700 [GRCh38]
Chr10:112572458 [GRCh37]
Chr10:10q25.2		 benign|likely benign|not provided
NM_001134363.3(RBM20):c.2763C>T (p.Ile921=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002055773]|not specified [RCV000127745] Chr10:110821382 [GRCh38]
Chr10:112581140 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2904C>T (p.Ala968=) single nucleotide variant Cardiovascular phenotype [RCV003338418]|Dilated cardiomyopathy 1DD [RCV002055774]|not provided [RCV003326354]|not specified [RCV000127746] Chr10:110821523 [GRCh38]
Chr10:112581281 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.70T>A (p.Cys24Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001312717] Chr10:110644524 [GRCh38]
Chr10:112404282 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) single nucleotide variant Cardiomyopathy [RCV001170926]|Cardiovascular phenotype [RCV000244273]|Dilated cardiomyopathy 1DD [RCV000466145]|not provided [RCV001529847]|not specified [RCV000180559] Chr10:110812715 [GRCh38]
Chr10:112572473 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.32C>T (p.Ala11Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005089876]|not provided [RCV000173229] Chr10:110644486 [GRCh38]
Chr10:112404244 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2362G>T (p.Ala788Ser) single nucleotide variant Cardiomyopathy [RCV003486979]|Cardiovascular phenotype [RCV002447424]|Dilated cardiomyopathy 1DD [RCV001348532]|not provided [RCV004770086]|not specified [RCV004699325] Chr10:110812759 [GRCh38]
Chr10:112572517 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3632C>T (p.Pro1211Leu) single nucleotide variant Cardiomyopathy [RCV001170932]|Cardiovascular phenotype [RCV004017418]|Dilated cardiomyopathy 1DD [RCV002492521]|Primary familial hypertrophic cardiomyopathy [RCV000143945] Chr10:110835926 [GRCh38]
Chr10:112595684 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2599G>A (p.Gly867Ser) single nucleotide variant Cardiovascular phenotype [RCV004987054]|Dilated cardiomyopathy 1DD [RCV001312248] Chr10:110820120 [GRCh38]
Chr10:112579878 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3218A>C (p.Glu1073Ala) single nucleotide variant Cardiovascular phenotype [RCV003310672] Chr10:110821837 [GRCh38]
Chr10:112581595 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2309A>G (p.Lys770Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001294398] Chr10:110812706 [GRCh38]
Chr10:112572464 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) single nucleotide variant Cardiovascular phenotype [RCV000621557]|Dilated cardiomyopathy 1DD [RCV001486052]|not provided [RCV000724771] Chr10:110823494 [GRCh38]
Chr10:112583252 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) single nucleotide variant Cardiovascular phenotype [RCV002444696]|Dilated cardiomyopathy 1DD [RCV001086183]|Primary dilated cardiomyopathy [RCV001293161]|not provided [RCV000174042] Chr10:110821666 [GRCh38]
Chr10:112581424 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) single nucleotide variant Cardiomyopathy [RCV001798627]|Cardiovascular phenotype [RCV002453609]|Dilated cardiomyopathy 1DD [RCV000468632]|not provided [RCV000724378]|not specified [RCV003488424] Chr10:110835878 [GRCh38]
Chr10:112595636 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3 copy number gain See cases [RCV000133688] Chr10:108102587..133620674 [GRCh38]
Chr10:109862345..135434178 [GRCh37]
Chr10:109852335..135284168 [NCBI36]
Chr10:10q25.1-26.3		 pathogenic
GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3 copy number gain See cases [RCV000137747] Chr10:100600492..133622588 [GRCh38]
Chr10:102360249..135436092 [GRCh37]
Chr10:102350239..135286082 [NCBI36]
Chr10:10q24.31-26.3		 pathogenic
GRCh38/hg38 10q25.2-25.3(chr10:110804735-114884010)x1 copy number loss See cases [RCV000139783] Chr10:110804735..114884010 [GRCh38]
Chr10:112564493..116643769 [GRCh37]
Chr10:112554483..116633759 [NCBI36]
Chr10:10q25.2-25.3		 likely pathogenic
GRCh38/hg38 10q24.32-25.3(chr10:102732173-114085105)x1 copy number loss See cases [RCV000143371] Chr10:102732173..114085105 [GRCh38]
Chr10:104491930..115844864 [GRCh37]
Chr10:104481920..115834854 [NCBI36]
Chr10:10q24.32-25.3		 pathogenic
NM_001134363.3(RBM20):c.364C>A (p.Gln122Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000458254]|not specified [RCV000155756] Chr10:110780973 [GRCh38]
Chr10:112540731 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) single nucleotide variant Cardiovascular phenotype [RCV002408692]|Dilated cardiomyopathy 1DD [RCV001087181]|not provided [RCV000724685]|not specified [RCV000155809] Chr10:110781458 [GRCh38]
Chr10:112541216 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3004C>G (p.Leu1002Val) single nucleotide variant Cardiovascular phenotype [RCV002433685]|Dilated cardiomyopathy 1DD [RCV000647173]|not provided [RCV001567804]|not specified [RCV000155811] Chr10:110821623 [GRCh38]
Chr10:112581381 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1266T>C (p.Phe422=) single nucleotide variant not specified [RCV000156035] Chr10:110781875 [GRCh38]
Chr10:112541633 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3261_3262delinsG (p.Ser1087fs) indel Cardiomyopathy [RCV003486704]|Cardiovascular phenotype [RCV000619175]|Dilated cardiomyopathy 1DD [RCV005208548]|Primary dilated cardiomyopathy [RCV000156073]|not provided [RCV000623790] Chr10:110821880..110821881 [GRCh38]
Chr10:112581638..112581639 [GRCh37]
Chr10:10q25.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.56C>G (p.Pro19Arg) single nucleotide variant not specified [RCV000156078] Chr10:110644510 [GRCh38]
Chr10:112404268 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1051G>C (p.Asp351His) single nucleotide variant Cardiovascular phenotype [RCV002399556]|Dilated cardiomyopathy 1DD [RCV000796576]|not specified [RCV000156140] Chr10:110781660 [GRCh38]
Chr10:112541418 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1761C>T (p.Leu587=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001428481]|not specified [RCV000156159] Chr10:110799879 [GRCh38]
Chr10:112559637 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2746G>A (p.Glu916Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001857539]|Primary dilated cardiomyopathy [RCV000156214] Chr10:110821365 [GRCh38]
Chr10:112581123 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.774G>A (p.Ser258=) single nucleotide variant Cardiovascular phenotype [RCV002408695]|Dilated cardiomyopathy 1DD [RCV000685870]|not provided [RCV001723727]|not specified [RCV000156284] Chr10:110781383 [GRCh38]
Chr10:112541141 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.363C>T (p.Asn121=) single nucleotide variant Cardiovascular phenotype [RCV003162639]|Dilated cardiomyopathy 1DD [RCV002516333]|not specified [RCV000156323] Chr10:110780972 [GRCh38]
Chr10:112540730 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.536G>A (p.Gly179Asp) single nucleotide variant Cardiomyopathy [RCV001798519]|Left ventricular noncompaction cardiomyopathy [RCV001254754]|not specified [RCV000156344] Chr10:110781145 [GRCh38]
Chr10:112540903 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1816G>A (p.Val606Met) single nucleotide variant Cardiomyopathy [RCV001170725]|Cardiovascular phenotype [RCV002408700]|Dilated cardiomyopathy 1DD [RCV000229866]|not provided [RCV000766688]|not specified [RCV000156503] Chr10:110810398 [GRCh38]
Chr10:112570156 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1497C>T (p.Pro499=) single nucleotide variant Cardiovascular phenotype [RCV002390366]|Dilated cardiomyopathy 1DD [RCV000647193]|not provided [RCV004704999]|not specified [RCV000156539] Chr10:110784859 [GRCh38]
Chr10:112544617 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1190A>C (p.His397Pro) single nucleotide variant not specified [RCV000156787] Chr10:110781799 [GRCh38]
Chr10:112541557 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.131C>A (p.Pro44Gln) single nucleotide variant Cardiovascular phenotype [RCV002381473]|Dilated cardiomyopathy 1DD [RCV000647199]|not provided [RCV001704092]|not specified [RCV000151725] Chr10:110644585 [GRCh38]
Chr10:112404343 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1519G>A (p.Gly507Arg) single nucleotide variant not specified [RCV000151727] Chr10:110784881 [GRCh38]
Chr10:112544639 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1418C>T (p.Ala473Val) single nucleotide variant Cardiovascular phenotype [RCV002390327]|Dilated cardiomyopathy 1DD [RCV000696365]|not provided [RCV000843947]|not specified [RCV000151728] Chr10:110784421 [GRCh38]
Chr10:112544179 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2244T>G (p.Ser748=) single nucleotide variant Cardiomyopathy [RCV001798476]|Cardiovascular phenotype [RCV002415641]|Dilated cardiomyopathy 1DD [RCV000647188]|not provided [RCV001668302]|not specified [RCV000151729] Chr10:110812641 [GRCh38]
Chr10:112572399 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2357A>G (p.Asp786Gly) single nucleotide variant Cardiovascular phenotype [RCV002444623]|Dilated cardiomyopathy 1DD [RCV000554244]|not provided [RCV002260994]|not specified [RCV000151731] Chr10:110812754 [GRCh38]
Chr10:112572512 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2844T>C (p.Cys948=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495113]|not specified [RCV000151732] Chr10:110821463 [GRCh38]
Chr10:112581221 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2855C>T (p.Thr952Ile) single nucleotide variant not specified [RCV000151733] Chr10:110821474 [GRCh38]
Chr10:112581232 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3031G>A (p.Ala1011Thr) single nucleotide variant not specified [RCV000151735] Chr10:110821650 [GRCh38]
Chr10:112581408 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3115C>T (p.Pro1039Ser) single nucleotide variant Cardiomyopathy [RCV000769276]|Cardiovascular phenotype [RCV002321626]|Dilated cardiomyopathy 1DD [RCV000473528]|Hypertrophic cardiomyopathy [RCV000852426]|Primary dilated cardiomyopathy [RCV000208527]|not provided [RCV000994517]|not specified [RCV000151736] Chr10:110821734 [GRCh38]
Chr10:112581492 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3265C>A (p.Pro1089Thr) single nucleotide variant Cardiovascular phenotype [RCV000619097]|Dilated cardiomyopathy 1DD [RCV001089374]|not provided [RCV000766696]|not specified [RCV000151737] Chr10:110821884 [GRCh38]
Chr10:112581642 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.680G>T (p.Gly227Val) single nucleotide variant Cardiomyopathy [RCV000770276]|Cardiovascular phenotype [RCV000619836]|Dilated cardiomyopathy 1DD [RCV000462379]|Primary dilated cardiomyopathy [RCV000590946]|not provided [RCV001528500]|not specified [RCV000154806] Chr10:110781289 [GRCh38]
Chr10:112541047 [GRCh37]
Chr10:10q25.2		 pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2201G>A (p.Arg734Gln) single nucleotide variant Cardiovascular phenotype [RCV000251348]|Dilated cardiomyopathy 1DD [RCV000647161]|not provided [RCV001698979]|not specified [RCV000154807] Chr10:110812598 [GRCh38]
Chr10:112572356 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1259A>G (p.Lys420Arg) single nucleotide variant Cardiovascular phenotype [RCV002426762]|Dilated cardiomyopathy 1DD [RCV001850171]|not specified [RCV000156846] Chr10:110781868 [GRCh38]
Chr10:112541626 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1958C>T (p.Thr653Ile) single nucleotide variant Cardiovascular phenotype [RCV002415682]|Dilated cardiomyopathy 1DD [RCV001081755]|not provided [RCV000766690]|not specified [RCV000156848] Chr10:110812355 [GRCh38]
Chr10:112572113 [GRCh37]
Chr10:10q25.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1275+8G>T single nucleotide variant Cardiomyopathy [RCV001170722]|Dilated cardiomyopathy 1DD [RCV000459231]|not provided [RCV001706059]|not specified [RCV000156859] Chr10:110781892 [GRCh38]
Chr10:112541650 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1338-11G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002053896]|not specified [RCV000156879] Chr10:110784330 [GRCh38]
Chr10:112544088 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.280C>T (p.Leu94=) single nucleotide variant Cardiovascular phenotype [RCV002433654]|Dilated cardiomyopathy 1DD [RCV000234343]|not provided [RCV001699042]|not specified [RCV000151726] Chr10:110780889 [GRCh38]
Chr10:112540647 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.2887A>G (p.Lys963Glu) single nucleotide variant Cardiomyopathy [RCV001170929]|Cardiovascular phenotype [RCV000619140]|Dilated cardiomyopathy 1DD [RCV000534396]|not provided [RCV001528314]|not specified [RCV000151734] Chr10:110821506 [GRCh38]
Chr10:112581264 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2517T>C (p.Asp839=) single nucleotide variant Cardiovascular phenotype [RCV004019862]|not specified [RCV000155592] Chr10:110812914 [GRCh38]
Chr10:112572672 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1093G>A (p.Gly365Arg) single nucleotide variant Cardiovascular phenotype [RCV000617510]|Dilated cardiomyopathy 1DD [RCV001086529]|not provided [RCV000766685]|not specified [RCV000155649] Chr10:110781702 [GRCh38]
Chr10:112541460 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1019C>T (p.Pro340Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000700838]|Pulmonary valve stenosis (rare) [RCV000157427] Chr10:110781628 [GRCh38]
Chr10:112541386 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2014G>A (p.Gly672Ser) single nucleotide variant Cardiovascular phenotype [RCV002415685]|Dilated cardiomyopathy 1DD [RCV000477856]|Primary familial hypertrophic cardiomyopathy [RCV000157431]|not provided [RCV000183868] Chr10:110812411 [GRCh38]
Chr10:112572169 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2089G>A (p.Gly697Arg) single nucleotide variant Cardiovascular phenotype [RCV003343665]|Dilated cardiomyopathy 1DD [RCV001399241]|Primary familial hypertrophic cardiomyopathy [RCV000157432]|not provided [RCV004724942] Chr10:110812486 [GRCh38]
Chr10:112572244 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.2219C>T (p.Ser740Phe) single nucleotide variant Cardiovascular phenotype [RCV004984696]|Dilated cardiomyopathy 1DD [RCV001850187]|Primary familial hypertrophic cardiomyopathy [RCV000157433]|not provided [RCV004696859] Chr10:110812616 [GRCh38]
Chr10:112572374 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2393C>T (p.Pro798Leu) single nucleotide variant Cardiovascular phenotype [RCV002426766]|Dilated cardiomyopathy 1DD [RCV000814282]|Primary dilated cardiomyopathy [RCV000157434]|not provided [RCV001657894]|not specified [RCV001280683] Chr10:110812790 [GRCh38]
Chr10:112572548 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.2(RBM20):c.2561_2566delAGGAAC (p.Gln856_Glu857del) deletion Paroxysmal familial ventricular fibrillation [RCV000157435] Chr10:110820082..110820087 [GRCh38]
Chr10:112579840..112579845 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3067G>T (p.Asp1023Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002516362]|Ventricular fibrillation, paroxysmal familial, type 1 [RCV000157440] Chr10:110821686 [GRCh38]
Chr10:112581444 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) single nucleotide variant Cardiovascular phenotype [RCV000617792]|Dilated cardiomyopathy 1DD [RCV000988452]|Primary dilated cardiomyopathy [RCV000157441]|not provided [RCV001575454]|not specified [RCV000678748] Chr10:110831154 [GRCh38]
Chr10:112590912 [GRCh37]
Chr10:10q25.2		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) single nucleotide variant Cardiovascular phenotype [RCV002399639]|Dilated cardiomyopathy 1DD [RCV001079157]|not provided [RCV000724708]|not specified [RCV000221172] Chr10:110797582 [GRCh38]
Chr10:112557340 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=) single nucleotide variant Cardiovascular phenotype [RCV004020174]|Dilated cardiomyopathy 1DD [RCV002054151]|not provided [RCV000180558] Chr10:110812911 [GRCh38]
Chr10:112572669 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.488G>A (p.Arg163Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647166]|not specified [RCV000183822] Chr10:110781097 [GRCh38]
Chr10:112540855 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.674C>T (p.Thr225Ile) single nucleotide variant Cardiovascular phenotype [RCV002372126]|Dilated cardiomyopathy 1DD [RCV001307286]|not specified [RCV000183823] Chr10:110781283 [GRCh38]
Chr10:112541041 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1451C>T (p.Thr484Ile) single nucleotide variant Cardiomyopathy [RCV001170723]|Cardiovascular phenotype [RCV000617429]|Dilated cardiomyopathy 1DD [RCV000473320]|RBM20-related disorder [RCV003955112]|not provided [RCV001704889]|not specified [RCV003317133] Chr10:110784813 [GRCh38]
Chr10:112544571 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) single nucleotide variant Cardiovascular phenotype [RCV000619976]|Dilated cardiomyopathy 1DD [RCV000690518]|not provided [RCV000183827] Chr10:110797583 [GRCh38]
Chr10:112557341 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1617G>T (p.Gly539=) single nucleotide variant Cardiovascular phenotype [RCV002399682]|Dilated cardiomyopathy 1DD [RCV000946314]|not provided [RCV003311708]|not specified [RCV000183828] Chr10:110797597 [GRCh38]
Chr10:112557355 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2116C>A (p.Pro706Thr) single nucleotide variant Cardiomyopathy [RCV000769269]|Cardiovascular phenotype [RCV002415789]|Dilated cardiomyopathy 1DD [RCV000685352]|not provided [RCV000766692]|not specified [RCV000183829] Chr10:110812513 [GRCh38]
Chr10:112572271 [GRCh37]
Chr10:10q25.2		 likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2231A>T (p.Asn744Ile) single nucleotide variant not specified [RCV000183831] Chr10:110812628 [GRCh38]
Chr10:112572386 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2547T>A (p.Asn849Lys) single nucleotide variant Cardiovascular phenotype [RCV002426887]|Dilated cardiomyopathy 1DD [RCV000647172]|not provided [RCV000505752]|not specified [RCV002282009] Chr10:110812944 [GRCh38]
Chr10:112572702 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2862C>T (p.Asp954=) single nucleotide variant Cardiovascular phenotype [RCV002433819]|Dilated cardiomyopathy 1DD [RCV000946315]|not specified [RCV000183835] Chr10:110821481 [GRCh38]
Chr10:112581239 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2869C>G (p.Leu957Val) single nucleotide variant not specified [RCV000183836] Chr10:110821488 [GRCh38]
Chr10:112581246 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-20C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002056960]|not provided [RCV001701549]|not specified [RCV000183839] Chr10:110823460 [GRCh38]
Chr10:112583218 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.224C>T (p.Ser75Leu) single nucleotide variant Cardiomyopathy [RCV000770270]|Cardiovascular phenotype [RCV002426888]|Dilated cardiomyopathy 1DD [RCV000705259]|not provided [RCV000183842]|not specified [RCV001256892] Chr10:110780833 [GRCh38]
Chr10:112540591 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.613C>A (p.Gln205Lys) single nucleotide variant Cardiovascular phenotype [RCV002354496]|Dilated cardiomyopathy 1DD [RCV000460747]|not provided [RCV000183843] Chr10:110781222 [GRCh38]
Chr10:112540980 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1040A>G (p.Tyr347Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001852373]|not provided [RCV000183847] Chr10:110781649 [GRCh38]
Chr10:112541407 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1156C>T (p.Gln386Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000818287]|not provided [RCV000183849] Chr10:110781765 [GRCh38]
Chr10:112541523 [GRCh37]
Chr10:10q25.2		 pathogenic|uncertain significance
NM_001134363.3(RBM20):c.1183C>T (p.Gln395Ter) single nucleotide variant not provided [RCV000183850] Chr10:110781792 [GRCh38]
Chr10:112541550 [GRCh37]
Chr10:10q25.2		 pathogenic|uncertain significance
NM_001134363.3(RBM20):c.1552C>T (p.Arg518Cys) single nucleotide variant Cardiovascular phenotype [RCV002399683]|Dilated cardiomyopathy 1DD [RCV000232048]|not provided [RCV000183852]|not specified [RCV001201317] Chr10:110797532 [GRCh38]
Chr10:112557290 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1607T>C (p.Ile536Thr) single nucleotide variant Cardiovascular phenotype [RCV004984729]|Dilated cardiomyopathy 1DD [RCV005089927]|not provided [RCV000183853] Chr10:110797587 [GRCh38]
Chr10:112557345 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.1668G>C (p.Gln556His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005083827] Chr10:110797648 [GRCh38]
Chr10:112557406 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1769T>G (p.Met590Arg) single nucleotide variant Cardiovascular phenotype [RCV002408813]|Dilated cardiomyopathy 1DD [RCV001211392]|not provided [RCV000183856] Chr10:110799887 [GRCh38]
Chr10:112559645 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1867C>T (p.Arg623Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005089928]|not provided [RCV000183858] Chr10:110810449 [GRCh38]
Chr10:112570207 [GRCh37]
Chr10:10q25.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1910G>A (p.Ser637Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001852374]|not provided [RCV000183863] Chr10:110812307 [GRCh38]
Chr10:112572065 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.1913C>G (p.Pro638Arg) single nucleotide variant Cardiovascular phenotype [RCV003165408]|Dilated cardiomyopathy 1DD [RCV002517818]|not provided [RCV000183864] Chr10:110812310 [GRCh38]
Chr10:112572068 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.1922G>A (p.Arg641Gln) single nucleotide variant Cardiomyopathy [RCV000769265]|Cardiovascular phenotype [RCV002408814]|Dilated cardiomyopathy 1DD [RCV000477478] Chr10:110812319 [GRCh38]
Chr10:112572077 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2062C>T (p.Arg688Ter) single nucleotide variant Cardiovascular phenotype [RCV002415790]|Dilated cardiomyopathy 1DD [RCV000230631] Chr10:110812459 [GRCh38]
Chr10:112572217 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2158A>G (p.Lys720Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005089929]|not provided [RCV000183871] Chr10:110812555 [GRCh38]
Chr10:112572313 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2287G>A (p.Glu763Lys) single nucleotide variant not provided [RCV000183872] Chr10:110812684 [GRCh38]
Chr10:112572442 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2299A>C (p.Lys767Gln) single nucleotide variant not provided [RCV000183873] Chr10:110812696 [GRCh38]
Chr10:112572454 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2588C>G (p.Pro863Arg) single nucleotide variant Dilated cardiomyopathy 1A [RCV001256958]|Dilated cardiomyopathy 1DD [RCV001305531]|not provided [RCV000183874] Chr10:110820109 [GRCh38]
Chr10:112579867 [GRCh37]
Chr10:10q25.2		 likely pathogenic|likely benign|uncertain significance
NM_001134363.3(RBM20):c.2736C>A (p.Asp912Glu) single nucleotide variant RBM20-related disorder [RCV004730898]|not provided [RCV000183877] Chr10:110821355 [GRCh38]
Chr10:112581113 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2741T>C (p.Val914Ala) single nucleotide variant Cardiovascular phenotype [RCV002433820]|Dilated cardiomyopathy 1DD [RCV000550246] Chr10:110821360 [GRCh38]
Chr10:112581118 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2986G>T (p.Asp996Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647146]|not provided [RCV000183880] Chr10:110821605 [GRCh38]
Chr10:112581363 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3046G>A (p.Gly1016Ser) single nucleotide variant Cardiovascular phenotype [RCV000621682]|Dilated cardiomyopathy 1DD [RCV000538598]|not provided [RCV000183881] Chr10:110821665 [GRCh38]
Chr10:112581423 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3091G>T (p.Gly1031Ter) single nucleotide variant Cardiovascular phenotype [RCV000617548]|Dilated cardiomyopathy 1DD [RCV001348535] Chr10:110821710 [GRCh38]
Chr10:112581468 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3464T>C (p.Val1155Ala) single nucleotide variant Cardiovascular phenotype [RCV003380510]|Dilated cardiomyopathy 1DD [RCV001239306]|not provided [RCV000183886] Chr10:110831073 [GRCh38]
Chr10:112590831 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.42C>G (p.Ser14Arg) single nucleotide variant Cardiovascular phenotype [RCV002326995]|Dilated cardiomyopathy 1DD [RCV000814476]|not provided [RCV000183887] Chr10:110644496 [GRCh38]
Chr10:112404254 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.237_298del (p.Asn80fs) deletion Cardiovascular phenotype [RCV000621829]|Dilated cardiomyopathy 1DD [RCV001065773]|not provided [RCV002223810] Chr10:110780842..110780903 [GRCh38]
Chr10:112540600..112540661 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2501dup (p.Asp834fs) duplication not provided [RCV000183889] Chr10:110812897..110812898 [GRCh38]
Chr10:112572655..112572656 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.304C>T (p.Arg102Trp) single nucleotide variant Cardiovascular phenotype [RCV002444745]|Dilated cardiomyopathy 1DD [RCV001221376]|not provided [RCV000183891] Chr10:110780913 [GRCh38]
Chr10:112540671 [GRCh37]
Chr10:10q25.2		 pathogenic|uncertain significance
NM_001134363.3(RBM20):c.532C>T (p.Arg178Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001852375]|not provided [RCV000183892] Chr10:110781141 [GRCh38]
Chr10:112540899 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1748G>A (p.Gly583Asp) single nucleotide variant Cardiomyopathy [RCV001170724]|Cardiovascular phenotype [RCV002408815]|Dilated cardiomyopathy 1DD [RCV000551578]|not provided [RCV000183894] Chr10:110799866 [GRCh38]
Chr10:112559624 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.2(RBM20):c.783_801dup19 (p.Ser268Aspfs) duplication Cardiomyopathy [RCV000183896] Chr10:110781392..110781410 [GRCh38]
Chr10:112541150..112541168 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1909_1911del (p.Ser637del) deletion Dilated cardiomyopathy 1DD [RCV001852376]|not provided [RCV000183897] Chr10:110812304..110812306 [GRCh38]
Chr10:112572062..112572064 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1988G>A (p.Gly663Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000204468] Chr10:110812385 [GRCh38]
Chr10:112572143 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3573+10C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001392122] Chr10:110831192 [GRCh38]
Chr10:112590950 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2173G>A (p.Glu725Lys) single nucleotide variant Cardiovascular phenotype [RCV003338462]|Dilated cardiomyopathy 1DD [RCV001416972]|Primary familial hypertrophic cardiomyopathy [RCV000208155] Chr10:110812570 [GRCh38]
Chr10:112572328 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1606A>G (p.Ile536Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005055736]|Primary familial hypertrophic cardiomyopathy [RCV000208328] Chr10:110797586 [GRCh38]
Chr10:112557344 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2709T>A (p.Thr903=) single nucleotide variant Cardiovascular phenotype [RCV002431664]|Dilated cardiomyopathy 1DD [RCV000544974] Chr10:110821328 [GRCh38]
Chr10:112581086 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1281G>A (p.Trp427Ter) single nucleotide variant Primary dilated cardiomyopathy [RCV000208109] Chr10:110783371 [GRCh38]
Chr10:112543129 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3496T>C (p.Cys1166Arg) single nucleotide variant Primary dilated cardiomyopathy [RCV000208139] Chr10:110831105 [GRCh38]
Chr10:112590863 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2338G>C (p.Gly780Arg) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000208306] Chr10:110812735 [GRCh38]
Chr10:112572493 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.611C>T (p.Pro204Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV000208435] Chr10:110781220 [GRCh38]
Chr10:112540978 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1769T>A (p.Met590Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001853477]|not specified [RCV000219548] Chr10:110799887 [GRCh38]
Chr10:112559645 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.-16G>T single nucleotide variant not specified [RCV000215278] Chr10:110644439 [GRCh38]
Chr10:112404197 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1329C>G (p.Phe443Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002519649]|not specified [RCV000217118] Chr10:110783419 [GRCh38]
Chr10:112543177 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.441C>T (p.His147=) single nucleotide variant Cardiovascular phenotype [RCV002327081]|Dilated cardiomyopathy 1DD [RCV000559341]|RBM20-related disorder [RCV003907816]|not specified [RCV000221969] Chr10:110781050 [GRCh38]
Chr10:112540808 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1494C>A (p.Ser498Arg) single nucleotide variant Cardiomyopathy [RCV000769261]|Dilated cardiomyopathy 1DD [RCV001315621]|not provided [RCV001729465]|not specified [RCV000221984] Chr10:110784856 [GRCh38]
Chr10:112544614 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2464C>A (p.Gln822Lys) single nucleotide variant Cardiovascular phenotype [RCV002431662]|Dilated cardiomyopathy 1DD [RCV000543036] Chr10:110812861 [GRCh38]
Chr10:112572619 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1612C>T (p.Leu538=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001484450]|not specified [RCV000213562] Chr10:110797592 [GRCh38]
Chr10:112557350 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3500G>T (p.Gly1167Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001853480]|not specified [RCV000220193] Chr10:110831109 [GRCh38]
Chr10:112590867 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3574-6C>G single nucleotide variant Cardiomyopathy [RCV000770288]|Dilated cardiomyopathy 1DD [RCV000647175]|not provided [RCV000788433]|not specified [RCV000213733] Chr10:110835862 [GRCh38]
Chr10:112595620 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) single nucleotide variant Cardiovascular phenotype [RCV002381746]|Dilated cardiomyopathy 1DD [RCV000810104]|not provided [RCV000766615]|not specified [RCV000215489] Chr10:110781633 [GRCh38]
Chr10:112541391 [GRCh37]
Chr10:10q25.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1812G>A (p.Lys604=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001437111]|not specified [RCV000217893] Chr10:110810394 [GRCh38]
Chr10:112570152 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1779A>T (p.Arg593Ser) single nucleotide variant not specified [RCV000215663] Chr10:110799897 [GRCh38]
Chr10:112559655 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2286dup (p.Glu763fs) duplication not specified [RCV000220499] Chr10:110812680..110812681 [GRCh38]
Chr10:112572438..112572439 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.600T>G (p.Thr200=) single nucleotide variant Cardiovascular phenotype [RCV002354597]|Dilated cardiomyopathy 1DD [RCV002519613]|not specified [RCV000215686] Chr10:110781209 [GRCh38]
Chr10:112540967 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2727_2741del (p.Thr910_Val914del) deletion not specified [RCV000215905] Chr10:110821343..110821357 [GRCh38]
Chr10:112581104..112581118 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2161G>T (p.Ala721Ser) single nucleotide variant not specified [RCV000222592] Chr10:110812558 [GRCh38]
Chr10:112572316 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2183_2185del (p.Glu728del) deletion Cardiovascular phenotype [RCV004020632]|Dilated cardiomyopathy 1DD [RCV001853478]|not specified [RCV000216283] Chr10:110812578..110812580 [GRCh38]
Chr10:112572336..112572338 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3177A>G (p.Pro1059=) single nucleotide variant Cardiomyopathy [RCV000770283]|Cardiovascular phenotype [RCV000619255]|Dilated cardiomyopathy 1DD [RCV000469286]|not provided [RCV001563366]|not specified [RCV000214631] Chr10:110821796 [GRCh38]
Chr10:112581554 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.954A>G (p.Gln318=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000351795]|not specified [RCV000218706] Chr10:110781563 [GRCh38]
Chr10:112541321 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1529T>C (p.Phe510Ser) single nucleotide variant Cardiomyopathy [RCV003486774]|Conduction disorder of the heart [RCV001256957]|Dilated cardiomyopathy 1DD [RCV000870381]|RBM20-related disorder [RCV003955277]|not provided [RCV001528302]|not specified [RCV000218735] Chr10:110797509 [GRCh38]
Chr10:112557267 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1538G>A (p.Arg513Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647174]|not provided [RCV004791334]|not specified [RCV000222983] Chr10:110797518 [GRCh38]
Chr10:112557276 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.409C>T (p.Leu137=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002519612]|not specified [RCV000218972] Chr10:110781018 [GRCh38]
Chr10:112540776 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1013T>C (p.Met338Thr) single nucleotide variant Cardiovascular phenotype [RCV004020631]|Dilated cardiomyopathy 1DD [RCV001206594]|Primary dilated cardiomyopathy [RCV000852629]|not specified [RCV000221722] Chr10:110781622 [GRCh38]
Chr10:112541380 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2338G>A (p.Gly780Arg) single nucleotide variant Cardiovascular phenotype [RCV004668853]|Dilated cardiomyopathy 1DD [RCV001853479]|not provided [RCV001566006]|not specified [RCV000223435] Chr10:110812735 [GRCh38]
Chr10:112572493 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2018G>A (p.Arg673Gln) single nucleotide variant Cardiovascular phenotype [RCV002418006]|Dilated cardiomyopathy 1DD [RCV000227865]|not provided [RCV001557159] Chr10:110812415 [GRCh38]
Chr10:112572173 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3076G>A (p.Glu1026Lys) single nucleotide variant Cardiomyopathy [RCV000852425]|Cardiovascular phenotype [RCV000619316]|Dilated cardiomyopathy 1DD [RCV000228113]|Primary dilated cardiomyopathy [RCV001293118] Chr10:110821695 [GRCh38]
Chr10:112581453 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.533G>C (p.Arg178Pro) single nucleotide variant Cardiovascular phenotype [RCV000249321]|Dilated cardiomyopathy 1DD [RCV003597971]|not specified [RCV000223854] Chr10:110781142 [GRCh38]
Chr10:112540900 [GRCh37]
Chr10:10q25.2		 likely pathogenic|likely benign|uncertain significance
NM_001134363.3(RBM20):c.352A>G (p.Thr118Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000226710] Chr10:110780961 [GRCh38]
Chr10:112540719 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3156A>G (p.Ala1052=) single nucleotide variant Cardiovascular phenotype [RCV003161442]|Dilated cardiomyopathy 1DD [RCV002085178] Chr10:110821775 [GRCh38]
Chr10:112581533 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1511C>T (p.Ala504Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000228152] Chr10:110784873 [GRCh38]
Chr10:112544631 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3245T>G (p.Leu1082Arg) single nucleotide variant Cardiovascular phenotype [RCV003380525]|Dilated cardiomyopathy 1DD [RCV000228860] Chr10:110821864 [GRCh38]
Chr10:112581622 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1784A>G (p.Lys595Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000225960] Chr10:110799902 [GRCh38]
Chr10:112559660 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3504G>A (p.Leu1168=) single nucleotide variant Cardiovascular phenotype [RCV002450677]|Dilated cardiomyopathy 1DD [RCV000232944]|not provided [RCV001727644]|not specified [RCV000604704] Chr10:110831113 [GRCh38]
Chr10:112590871 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3268A>T (p.Ile1090Phe) single nucleotide variant Cardiovascular phenotype [RCV002321863]|Dilated cardiomyopathy 1DD [RCV000231627]|not provided [RCV000520466] Chr10:110821887 [GRCh38]
Chr10:112581645 [GRCh37]
Chr10:10q25.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.882C>T (p.Ser294=) single nucleotide variant Cardiovascular phenotype [RCV002444891]|Dilated cardiomyopathy 1DD [RCV000233549] Chr10:110781491 [GRCh38]
Chr10:112541249 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2303C>G (p.Ser768Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000233563]|not specified [RCV001193514] Chr10:110812700 [GRCh38]
Chr10:112572458 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.138_149dup (p.Gln49_Pro52dup) duplication Dilated cardiomyopathy 1DD [RCV000231435] Chr10:110644588..110644589 [GRCh38]
Chr10:112404346..112404347 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3119C>G (p.Ala1040Gly) single nucleotide variant Cardiovascular phenotype [RCV003380524]|Dilated cardiomyopathy 1DD [RCV000232158] Chr10:110821738 [GRCh38]
Chr10:112581496 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.247C>A (p.Leu83Ile) single nucleotide variant Cardiovascular phenotype [RCV002444890]|Dilated cardiomyopathy 1DD [RCV000227334] Chr10:110780856 [GRCh38]
Chr10:112540614 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2565A>C (p.Glu855Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000234162] Chr10:110820086 [GRCh38]
Chr10:112579844 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1100G>A (p.Arg367Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000234632] Chr10:110781709 [GRCh38]
Chr10:112541467 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2633C>T (p.Pro878Leu) single nucleotide variant Cardiovascular phenotype [RCV002431484]|Dilated cardiomyopathy 1DD [RCV001314163]|not provided [RCV000519821] Chr10:110820154 [GRCh38]
Chr10:112579912 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1066A>C (p.Thr356Pro) single nucleotide variant Cardiovascular phenotype [RCV002413879]|Dilated cardiomyopathy 1DD [RCV001367831] Chr10:110781675 [GRCh38]
Chr10:112541433 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.287C>T (p.Ala96Val) single nucleotide variant Cardiovascular phenotype [RCV004024145]|Dilated cardiomyopathy 1DD [RCV000526389]|not provided [RCV004691889] Chr10:110780896 [GRCh38]
Chr10:112540654 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) single nucleotide variant Cardiovascular phenotype [RCV004025032]|Dilated cardiomyopathy 1DD [RCV000608721]|Primary dilated cardiomyopathy [RCV003994046]|not provided [RCV001700236] Chr10:110835872 [GRCh38]
Chr10:112595630 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000757978]|not provided [RCV004800535] Chr10:110821333 [GRCh38]
Chr10:112581091 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.2131C>T (p.Arg711Cys) single nucleotide variant Cardiomyopathy [RCV001798750]|Cardiovascular phenotype [RCV000244461]|Dilated cardiomyopathy 1DD [RCV000472008] Chr10:110812528 [GRCh38]
Chr10:112572286 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3171G>T (p.Arg1057=) single nucleotide variant Cardiovascular phenotype [RCV000244498]|Dilated cardiomyopathy 1DD [RCV001459133] Chr10:110821790 [GRCh38]
Chr10:112581548 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1348C>T (p.Arg450Trp) single nucleotide variant Cardiovascular phenotype [RCV000251901]|Dilated cardiomyopathy 1DD [RCV001859462] Chr10:110784351 [GRCh38]
Chr10:112544109 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3595G>A (p.Glu1199Lys) single nucleotide variant Cardiovascular phenotype [RCV000242395]|Dilated cardiomyopathy 1DD [RCV000457319]|not provided [RCV001770221] Chr10:110835889 [GRCh38]
Chr10:112595647 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3023G>C (p.Arg1008Pro) single nucleotide variant Cardiovascular phenotype [RCV000242511]|Dilated cardiomyopathy 1DD [RCV000794019]|RBM20-related disorder [RCV004751405]|not provided [RCV001508304] Chr10:110821642 [GRCh38]
Chr10:112581400 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3169C>T (p.Arg1057Trp) single nucleotide variant Cardiovascular phenotype [RCV002324011]|Dilated cardiomyopathy 1DD [RCV000551247]|Heart failure [RCV000852633]|not provided [RCV002261114] Chr10:110821788 [GRCh38]
Chr10:112581546 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) single nucleotide variant Cardiovascular phenotype [RCV000249972]|Dilated cardiomyopathy 1DD [RCV000647190]|not provided [RCV001697698]|not specified [RCV001795475] Chr10:110835942 [GRCh38]
Chr10:112595700 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1807G>A (p.Gly603Arg) single nucleotide variant Cardiovascular phenotype [RCV000252458]|Dilated cardiomyopathy 1DD [RCV000707238]|not provided [RCV001589300] Chr10:110810389 [GRCh38]
Chr10:112570147 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3 copy number gain See cases [RCV000240457] Chr10:103288313..135512075 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
NM_001134363.3(RBM20):c.261C>T (p.Ala87=) single nucleotide variant Cardiovascular phenotype [RCV002450770]|Dilated cardiomyopathy 1DD [RCV002057981]|not specified [RCV000250160] Chr10:110780870 [GRCh38]
Chr10:112540628 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2231A>G (p.Asn744Ser) single nucleotide variant Cardiovascular phenotype [RCV004024144]|Dilated cardiomyopathy 1DD [RCV000529615]|not provided [RCV000786395] Chr10:110812628 [GRCh38]
Chr10:112572386 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2359G>A (p.Glu787Lys) single nucleotide variant Cardiovascular phenotype [RCV000245599]|Dilated cardiomyopathy 1DD [RCV000660435]|not provided [RCV001764235] Chr10:110812756 [GRCh38]
Chr10:112572514 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) single nucleotide variant Cardiovascular phenotype [RCV000250714]|Dilated cardiomyopathy 1DD [RCV000871076]|not provided [RCV001700024]|not specified [RCV001823720] Chr10:110784817 [GRCh38]
Chr10:112544575 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.3649G>A (p.Gly1217Arg) single nucleotide variant Cardiovascular phenotype [RCV002456185]|Dilated cardiomyopathy 1DD [RCV000530121] Chr10:110835943 [GRCh38]
Chr10:112595701 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*3289C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000284210]|not provided [RCV002292510] Chr10:110839267 [GRCh38]
Chr10:112599025 [GRCh37]
Chr10:10q25.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*448C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000284296]|not provided [RCV004718200] Chr10:110836426 [GRCh38]
Chr10:112596184 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.*386T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000285491]|not provided [RCV004705146] Chr10:110836364 [GRCh38]
Chr10:112596122 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.*1104G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000322210]|not provided [RCV004718203] Chr10:110837082 [GRCh38]
Chr10:112596840 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.*513A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000345291] Chr10:110836491 [GRCh38]
Chr10:112596249 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*484C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000346370] Chr10:110836462 [GRCh38]
Chr10:112596220 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3633G>A (p.Pro1211=) single nucleotide variant Cardiovascular phenotype [RCV002450848]|Dilated cardiomyopathy 1DD [RCV000370959] Chr10:110835927 [GRCh38]
Chr10:112595685 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*417G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000324214] Chr10:110836395 [GRCh38]
Chr10:112596153 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.*1360G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000325721]|not provided [RCV002292509] Chr10:110837338 [GRCh38]
Chr10:112597096 [GRCh37]
Chr10:10q25.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*627_*628del deletion Dilated Cardiomyopathy, Dominant [RCV000348718] Chr10:110836605..110836606 [GRCh38]
Chr10:112596363..112596364 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1135G>A (p.Gly379Arg) single nucleotide variant Cardiomyopathy [RCV003150160]|Cardiovascular phenotype [RCV002446547]|Dilated cardiomyopathy 1DD [RCV000869838]|not provided [RCV001699296]|not specified [RCV000443274] Chr10:110781744 [GRCh38]
Chr10:112541502 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*263C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000373311] Chr10:110836241 [GRCh38]
Chr10:112595999 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*512G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000287974] Chr10:110836490 [GRCh38]
Chr10:112596248 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2202C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000306211] Chr10:110838180 [GRCh38]
Chr10:112597938 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2722T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000327054]|not provided [RCV004705148] Chr10:110838700 [GRCh38]
Chr10:112598458 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.*442G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000376365] Chr10:110836420 [GRCh38]
Chr10:112596178 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1553G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000352669]|not provided [RCV004718204] Chr10:110837531 [GRCh38]
Chr10:112597289 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.*546C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000400934]|not provided [RCV004718201] Chr10:110836524 [GRCh38]
Chr10:112596282 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.*3259G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000402030] Chr10:110839237 [GRCh38]
Chr10:112598995 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3266C>G (p.Pro1089Arg) single nucleotide variant Cardiovascular phenotype [RCV002446548]|Dilated cardiomyopathy 1DD [RCV000865269] Chr10:110821885 [GRCh38]
Chr10:112581643 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2145C>T (p.Pro715=) single nucleotide variant Cardiovascular phenotype [RCV000622104]|Dilated cardiomyopathy 1DD [RCV000460775]|not provided [RCV001597045] Chr10:110812542 [GRCh38]
Chr10:112572300 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1053C>T (p.Asp351=) single nucleotide variant Cardiomyopathy [RCV003150159]|Cardiovascular phenotype [RCV002402012]|Dilated cardiomyopathy 1DD [RCV000647182]|not provided [RCV001723884]|not specified [RCV001702417] Chr10:110781662 [GRCh38]
Chr10:112541420 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*936T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000356785] Chr10:110836914 [GRCh38]
Chr10:112596672 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1170G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000383837] Chr10:110837148 [GRCh38]
Chr10:112596906 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2787A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000277637] Chr10:110838765 [GRCh38]
Chr10:112598523 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1723G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000294295] Chr10:110837701 [GRCh38]
Chr10:112597459 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2229A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000358616] Chr10:110838207 [GRCh38]
Chr10:112597965 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1356A>T (p.Ile452=) single nucleotide variant Cardiovascular phenotype [RCV004668888]|Dilated cardiomyopathy 1DD [RCV000407140]|not specified [RCV000437336] Chr10:110784359 [GRCh38]
Chr10:112544117 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*1539G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000295292] Chr10:110837517 [GRCh38]
Chr10:112597275 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3549C>T (p.Ser1183=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000314021] Chr10:110831158 [GRCh38]
Chr10:112590916 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*2054T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000336554] Chr10:110838032 [GRCh38]
Chr10:112597790 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1768C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000337580] Chr10:110837746 [GRCh38]
Chr10:112597504 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*3197A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000279973] Chr10:110839175 [GRCh38]
Chr10:112598933 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*552G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000314935]|not provided [RCV004705147] Chr10:110836530 [GRCh38]
Chr10:112596288 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.*999A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000361691]|not provided [RCV002292508] Chr10:110836977 [GRCh38]
Chr10:112596735 [GRCh37]
Chr10:10q25.2		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*2866C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000387251]|not provided [RCV004718205] Chr10:110838844 [GRCh38]
Chr10:112598602 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2200C>T (p.Arg734Trp) single nucleotide variant Cardiovascular phenotype [RCV004668889]|Dilated cardiomyopathy 1DD [RCV000647162]|not provided [RCV001770236] Chr10:110812597 [GRCh38]
Chr10:112572355 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1002A>G (p.Thr334=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000387697] Chr10:110781611 [GRCh38]
Chr10:112541369 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1867G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000297933] Chr10:110837845 [GRCh38]
Chr10:112597603 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*985G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000298366] Chr10:110836963 [GRCh38]
Chr10:112596721 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*234T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000316379] Chr10:110836212 [GRCh38]
Chr10:112595970 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*834G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000299572]|not provided [RCV004718202] Chr10:110836812 [GRCh38]
Chr10:112596570 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.*2443C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000366526] Chr10:110838421 [GRCh38]
Chr10:112598179 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2528C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000269559] Chr10:110838506 [GRCh38]
Chr10:112598264 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2867G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000281000] Chr10:110838845 [GRCh38]
Chr10:112598603 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*965G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000259626] Chr10:110836943 [GRCh38]
Chr10:112596701 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1429+10G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000545142] Chr10:110784442 [GRCh38]
Chr10:112544200 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.788A>G (p.Tyr263Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000272642] Chr10:110781397 [GRCh38]
Chr10:112541155 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*1201T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000273042] Chr10:110837179 [GRCh38]
Chr10:112596937 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*72T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000263559] Chr10:110836050 [GRCh38]
Chr10:112595808 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1098dup duplication Dilated Cardiomyopathy, Dominant [RCV000264728] Chr10:110837070..110837071 [GRCh38]
Chr10:112596828..112596829 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2362_*2365del deletion Dilated Cardiomyopathy, Dominant [RCV000266186] Chr10:110838337..110838340 [GRCh38]
Chr10:112598095..112598098 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1138C>T (p.Arg380Trp) single nucleotide variant Cardiovascular phenotype [RCV002324010]|Dilated cardiomyopathy 1DD [RCV000531746]|not provided [RCV005091276] Chr10:110781747 [GRCh38]
Chr10:112541505 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3317-19C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495246]|not provided [RCV001575225] Chr10:110823461 [GRCh38]
Chr10:112583219 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.195C>T (p.Ala65=) single nucleotide variant Cardiovascular phenotype [RCV004333255]|Dilated cardiomyopathy 1DD [RCV003777271]|not provided [RCV003312178] Chr10:110780804 [GRCh38]
Chr10:112540562 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3594_3623dup (p.Glu1199_Ala1208dup) duplication Dilated cardiomyopathy 1DD [RCV000553958] Chr10:110835884..110835885 [GRCh38]
Chr10:112595642..112595643 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1866C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000398674] Chr10:110837844 [GRCh38]
Chr10:112597602 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2839C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000330365] Chr10:110838817 [GRCh38]
Chr10:112598575 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2905G>A (p.Val969Ile) single nucleotide variant Cardiomyopathy [RCV003486873]|Cardiovascular phenotype [RCV002438452]|Dilated cardiomyopathy 1DD [RCV000549880]|RBM20-related disorder [RCV003419976]|not provided [RCV003105955]|not specified [RCV001823735] Chr10:110821524 [GRCh38]
Chr10:112581282 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*3296T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000346301] Chr10:110839274 [GRCh38]
Chr10:112599032 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1517C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000382629] Chr10:110837495 [GRCh38]
Chr10:112597253 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*511G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000384583] Chr10:110836489 [GRCh38]
Chr10:112596247 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2060A>G (p.Glu687Gly) single nucleotide variant Cardiovascular phenotype [RCV002420482]|Dilated cardiomyopathy 1DD [RCV000528296]|not provided [RCV001755859] Chr10:110812457 [GRCh38]
Chr10:112572215 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*1666G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000386287] Chr10:110837644 [GRCh38]
Chr10:112597402 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2925T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000319931] Chr10:110838903 [GRCh38]
Chr10:112598661 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1276-8T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000335754] Chr10:110783358 [GRCh38]
Chr10:112543116 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2737G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000388580] Chr10:110838715 [GRCh38]
Chr10:112598473 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2148G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV000407141] Chr10:110838126 [GRCh38]
Chr10:112597884 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2951T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000372241] Chr10:110838929 [GRCh38]
Chr10:112598687 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2442G>A single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000309635] Chr10:110838420 [GRCh38]
Chr10:112598178 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.874G>T (p.Val292Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000287457] Chr10:110781483 [GRCh38]
Chr10:112541241 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*20A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000355788] Chr10:110835998 [GRCh38]
Chr10:112595756 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2196C>T (p.Pro732=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000600858]|not provided [RCV001726268]|not specified [RCV001700234] Chr10:110812593 [GRCh38]
Chr10:112572351 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.128A>C (p.Gln43Pro) single nucleotide variant Cardiovascular phenotype [RCV002379169]|Dilated cardiomyopathy 1DD [RCV000311535] Chr10:110644582 [GRCh38]
Chr10:112404340 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3162G>T (p.Glu1054Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000341095] Chr10:110821781 [GRCh38]
Chr10:112581539 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.305G>A (p.Arg102Gln) single nucleotide variant Cardiovascular phenotype [RCV002446546]|Dilated cardiomyopathy 1DD [RCV000357051]|not provided [RCV001571536] Chr10:110780914 [GRCh38]
Chr10:112540672 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*628T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000393633] Chr10:110836606 [GRCh38]
Chr10:112596364 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*3250A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000342036] Chr10:110839228 [GRCh38]
Chr10:112598986 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2819A>G (p.Lys940Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000342406] Chr10:110821438 [GRCh38]
Chr10:112581196 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.717A>T (p.Thr239=) single nucleotide variant Cardiomyopathy [RCV001798779]|Cardiovascular phenotype [RCV002374509]|Dilated cardiomyopathy 1DD [RCV000376580] Chr10:110781326 [GRCh38]
Chr10:112541084 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1159G>A (p.Ala387Thr) single nucleotide variant Cardiovascular phenotype [RCV002374510]|Dilated cardiomyopathy 1DD [RCV000398249]|not provided [RCV003159115] Chr10:110781768 [GRCh38]
Chr10:112541526 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2504AAG[1] (p.Glu836del) microsatellite Cardiovascular phenotype [RCV000622241]|Dilated cardiomyopathy 1DD [RCV003495167] Chr10:110812901..110812903 [GRCh38]
Chr10:112572659..112572661 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1791G>A (p.Leu597=) single nucleotide variant Cardiovascular phenotype [RCV000622140]|Dilated cardiomyopathy 1DD [RCV000527729] Chr10:110799909 [GRCh38]
Chr10:112559667 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3452G>C (p.Gly1151Ala) single nucleotide variant Cardiovascular phenotype [RCV004025261]|Dilated cardiomyopathy 1DD [RCV003597994]|Primary familial dilated cardiomyopathy [RCV000623310] Chr10:110831061 [GRCh38]
Chr10:112590819 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3512C>T (p.Thr1171Met) single nucleotide variant Cardiovascular phenotype [RCV002456183]|Dilated cardiomyopathy 1DD [RCV000552029]|not provided [RCV002261115] Chr10:110831121 [GRCh38]
Chr10:112590879 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2371C>T (p.Arg791Trp) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852424]|Cardiomyopathy [RCV001798892]|Cardiovascular phenotype [RCV004659102]|Dilated cardiomyopathy 1DD [RCV000530425] Chr10:110812768 [GRCh38]
Chr10:112572526 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1095G>C (p.Gly365=) single nucleotide variant not specified [RCV000600068] Chr10:110781704 [GRCh38]
Chr10:112541462 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.150A>C (p.Pro50=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000607952]|not provided [RCV000860994] Chr10:110644604 [GRCh38]
Chr10:112404362 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2043T>A (p.Tyr681Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597995]|not provided [RCV000627372] Chr10:110812440 [GRCh38]
Chr10:112572198 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1308C>T (p.His436=) single nucleotide variant Cardiovascular phenotype [RCV002384189]|Dilated cardiomyopathy 1DD [RCV000556895]|not provided [RCV001727750]|not specified [RCV001701040] Chr10:110783398 [GRCh38]
Chr10:112543156 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2679T>G (p.Ser893Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000536885] Chr10:110821298 [GRCh38]
Chr10:112581056 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3271G>A (p.Glu1091Lys) single nucleotide variant Cardiovascular phenotype [RCV002442566]|Dilated cardiomyopathy 1DD [RCV001055345]|not provided [RCV000757718] Chr10:110821890 [GRCh38]
Chr10:112581648 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1057G>A (p.Glu353Lys) single nucleotide variant Cardiovascular phenotype [RCV002406682]|Dilated cardiomyopathy 1DD [RCV001087506]|not provided [RCV000757721] Chr10:110781666 [GRCh38]
Chr10:112541424 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3424G>A (p.Val1142Met) single nucleotide variant Cardiovascular phenotype [RCV004659021]|not provided [RCV000416214] Chr10:110823587 [GRCh38]
Chr10:112583345 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3440G>C (p.Ser1147Thr) single nucleotide variant Cardiovascular phenotype [RCV004024146]|Dilated cardiomyopathy 1DD [RCV000539402] Chr10:110823603 [GRCh38]
Chr10:112583361 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.978G>A (p.Ser326=) single nucleotide variant Cardiovascular phenotype [RCV002384190]|Dilated cardiomyopathy 1DD [RCV000560312] Chr10:110781587 [GRCh38]
Chr10:112541345 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1913C>A (p.Pro638Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000799353]|not provided [RCV000413319] Chr10:110812310 [GRCh38]
Chr10:112572068 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.2149C>A (p.Gln717Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000540882] Chr10:110812546 [GRCh38]
Chr10:112572304 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.541G>A (p.Gly181Arg) single nucleotide variant Cardiovascular phenotype [RCV002348132]|Dilated cardiomyopathy 1DD [RCV001105154]|not specified [RCV000413353] Chr10:110781150 [GRCh38]
Chr10:112540908 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 10q24.32-26.3(chr10:104633712-135427143)x3 copy number gain See cases [RCV000449386] Chr10:104633712..135427143 [GRCh37]
Chr10:10q24.32-26.3		 pathogenic
NM_001134363.3(RBM20):c.153G>T (p.Pro51=) single nucleotide variant Cardiovascular phenotype [RCV002402126]|Dilated cardiomyopathy 1DD [RCV000456648]|not provided [RCV001718862] Chr10:110644607 [GRCh38]
Chr10:112404365 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3677A>G (p.Lys1226Arg) single nucleotide variant Cardiovascular phenotype [RCV004659031]|Dilated cardiomyopathy 1DD [RCV000467447]|not provided [RCV000425990] Chr10:110835971 [GRCh38]
Chr10:112595729 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.785C>G (p.Thr262Ser) single nucleotide variant Cardiovascular phenotype [RCV002411329]|Dilated cardiomyopathy 1DD [RCV000473702]|not specified [RCV000429739] Chr10:110781394 [GRCh38]
Chr10:112541152 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) single nucleotide variant Cardiomyopathy [RCV003486828]|Cardiovascular phenotype [RCV002392957]|Dilated cardiomyopathy 1DD [RCV000458774]|not provided [RCV001703490]|not specified [RCV000433030] Chr10:110797639 [GRCh38]
Chr10:112557397 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.2069C>T (p.Pro690Leu) single nucleotide variant Cardiomyopathy [RCV003486830]|Cardiovascular phenotype [RCV002418257]|Dilated cardiomyopathy 1DD [RCV000477546]|not specified [RCV000440322] Chr10:110812466 [GRCh38]
Chr10:112572224 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2043T>C (p.Tyr681=) single nucleotide variant Cardiovascular phenotype [RCV003159878]|Dilated cardiomyopathy 1DD [RCV000553839] Chr10:110812440 [GRCh38]
Chr10:112572198 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q24.2-26.3(chr10:100780957-135427143)x3 copy number gain See cases [RCV000446733] Chr10:100780957..135427143 [GRCh37]
Chr10:10q24.2-26.3		 pathogenic
NM_001134363.3(RBM20):c.237G>A (p.Pro79=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002062804]|not provided [RCV001729591]|not specified [RCV000434245] Chr10:110780846 [GRCh38]
Chr10:112540604 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1129G>A (p.Gly377Ser) single nucleotide variant Cardiovascular phenotype [RCV002323666]|Dilated cardiomyopathy 1DD [RCV000807865]|not provided [RCV000437717] Chr10:110781738 [GRCh38]
Chr10:112541496 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2388C>G (p.Pro796=) single nucleotide variant Cardiovascular phenotype [RCV000621951]|Dilated cardiomyopathy 1DD [RCV001446910]|not specified [RCV000418119] Chr10:110812785 [GRCh38]
Chr10:112572543 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3000T>A (p.Pro1000=) single nucleotide variant not specified [RCV000438563] Chr10:110821619 [GRCh38]
Chr10:112581377 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1668+8T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005090753]|not specified [RCV000421505] Chr10:110797656 [GRCh38]
Chr10:112557414 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2736C>T (p.Asp912=) single nucleotide variant Cardiovascular phenotype [RCV002436335]|Dilated cardiomyopathy 1DD [RCV000537616]|not provided [RCV004705575]|not specified [RCV000439175] Chr10:110821355 [GRCh38]
Chr10:112581113 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2214G>A (p.Pro738=) single nucleotide variant Cardiovascular phenotype [RCV004659030]|Dilated cardiomyopathy 1DD [RCV002060010]|not specified [RCV000442932] Chr10:110812611 [GRCh38]
Chr10:112572369 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3513G>A (p.Thr1171=) single nucleotide variant Cardiovascular phenotype [RCV002450965]|Dilated cardiomyopathy 1DD [RCV000647195]|not specified [RCV000422047] Chr10:110831122 [GRCh38]
Chr10:112590880 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1172T>C (p.Val391Ala) single nucleotide variant Cardiovascular phenotype [RCV002328933]|Dilated cardiomyopathy 1DD [RCV002061623]|not provided [RCV001703556] Chr10:110781781 [GRCh38]
Chr10:112541539 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1162T>C (p.Leu388=) single nucleotide variant Cardiovascular phenotype [RCV002323610]|Dilated cardiomyopathy 1DD [RCV001467995]|not provided [RCV001720182] Chr10:110781771 [GRCh38]
Chr10:112541529 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1804C>A (p.Pro602Thr) single nucleotide variant not provided [RCV000443307] Chr10:110810386 [GRCh38]
Chr10:112570144 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1668+12T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV005090754]|not specified [RCV000432644] Chr10:110797660 [GRCh38]
Chr10:112557418 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2835A>G (p.Thr945=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002058981]|not specified [RCV000436557] Chr10:110821454 [GRCh38]
Chr10:112581212 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.523A>G (p.Ser175Gly) single nucleotide variant Cardiovascular phenotype [RCV002339001]|Dilated cardiomyopathy 1DD [RCV001370058] Chr10:110781132 [GRCh38]
Chr10:112540890 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.1620G>A (p.Leu540=) single nucleotide variant Cardiomyopathy [RCV001798810]|Cardiovascular phenotype [RCV004659027]|Dilated cardiomyopathy 1DD [RCV000647198]|not provided [RCV001720205] Chr10:110797600 [GRCh38]
Chr10:112557358 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) single nucleotide variant Cardiovascular phenotype [RCV002446724]|Dilated cardiomyopathy 1DD [RCV001468762]|not provided [RCV001702481]|not specified [RCV000426281] Chr10:110812755 [GRCh38]
Chr10:112572513 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3574-19T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002063374]|not specified [RCV000433416] Chr10:110835849 [GRCh38]
Chr10:112595607 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.57G>T (p.Pro19=) single nucleotide variant Cardiomyopathy [RCV000770268]|Cardiovascular phenotype [RCV002356574]|Dilated cardiomyopathy 1DD [RCV000869294]|not specified [RCV000440406] Chr10:110644511 [GRCh38]
Chr10:112404269 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) single nucleotide variant Cardiomyopathy [RCV000770280]|Cardiovascular phenotype [RCV002379300]|Dilated cardiomyopathy 1DD [RCV000537064]|not provided [RCV003311808]|not specified [RCV000440426] Chr10:110784381 [GRCh38]
Chr10:112544139 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.3573+16C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002061662]|not provided [RCV001729585]|not specified [RCV000440458] Chr10:110831198 [GRCh38]
Chr10:112590956 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1338-10C>T single nucleotide variant not specified [RCV000426473] Chr10:110784331 [GRCh38]
Chr10:112544089 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3084G>A (p.Glu1028=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495131]|not specified [RCV000420361] Chr10:110821703 [GRCh38]
Chr10:112581461 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+12T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001865341]|not specified [RCV000423331] Chr10:110812959 [GRCh38]
Chr10:112572717 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3574-15C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002521690]|not specified [RCV000440821] Chr10:110835853 [GRCh38]
Chr10:112595611 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.555C>T (p.Asn185=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001452984]|not specified [RCV000444618] Chr10:110781164 [GRCh38]
Chr10:112540922 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.-19C>T single nucleotide variant not specified [RCV000430733] Chr10:110644436 [GRCh38]
Chr10:112404194 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527+9G>A single nucleotide variant Cardiomyopathy [RCV001798806]|Dilated cardiomyopathy 1DD [RCV001287253]|not specified [RCV000444785] Chr10:110784898 [GRCh38]
Chr10:112544656 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3 copy number gain See cases [RCV000448750] Chr10:93297..135378918 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590)x1 copy number loss See cases [RCV000448581] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
NM_001134363.3(RBM20):c.1962C>T (p.Ser654=) single nucleotide variant Cardiovascular phenotype [RCV002418486]|Dilated cardiomyopathy 1DD [RCV000462930]|not provided [RCV004568136] Chr10:110812359 [GRCh38]
Chr10:112572117 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.196G>A (p.Ala66Thr) single nucleotide variant Cardiovascular phenotype [RCV002418421]|Dilated cardiomyopathy 1DD [RCV000457429] Chr10:110780805 [GRCh38]
Chr10:112540563 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.7C>T (p.Leu3=) single nucleotide variant Cardiovascular phenotype [RCV002418487]|Dilated cardiomyopathy 1DD [RCV000457739]|not provided [RCV001725183] Chr10:110644461 [GRCh38]
Chr10:112404219 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.773C>T (p.Ser258Leu) single nucleotide variant Cardiovascular phenotype [RCV002402293]|Dilated cardiomyopathy 1DD [RCV000466919]|not provided [RCV003233643]|not specified [RCV000825223] Chr10:110781382 [GRCh38]
Chr10:112541140 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) single nucleotide variant Cardiomyopathy [RCV001798852]|Cardiovascular phenotype [RCV002323809]|Dilated cardiomyopathy 1DD [RCV000474478]|not provided [RCV001725184]|not specified [RCV001701019] Chr10:110781770 [GRCh38]
Chr10:112541528 [GRCh37]
Chr10:10q25.2		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.1160C>T (p.Ala387Val) single nucleotide variant Cardiovascular phenotype [RCV004022881]|Dilated cardiomyopathy 1DD [RCV000465882]|RBM20-related disorder [RCV004751541] Chr10:110781769 [GRCh38]
Chr10:112541527 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3330C>G (p.Tyr1110Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000466828] Chr10:110823493 [GRCh38]
Chr10:112583251 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1800+1G>A single nucleotide variant Cardiovascular phenotype [RCV002411512]|Dilated cardiomyopathy 1DD [RCV000463545] Chr10:110799919 [GRCh38]
Chr10:112559677 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3331G>A (p.Val1111Met) single nucleotide variant Cardiovascular phenotype [RCV000619994]|Dilated cardiomyopathy 1DD [RCV000471075]|not provided [RCV004777678]|not specified [RCV003317227] Chr10:110823494 [GRCh38]
Chr10:112583252 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.419C>T (p.Pro140Leu) single nucleotide variant Cardiovascular phenotype [RCV003380579]|Dilated cardiomyopathy 1DD [RCV000472870]|RBM20-related disorder [RCV004751542] Chr10:110781028 [GRCh38]
Chr10:112540786 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3636G>A (p.Arg1212=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000474694] Chr10:110835930 [GRCh38]
Chr10:112595688 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2229C>G (p.Pro743=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001498823] Chr10:110812626 [GRCh38]
Chr10:112572384 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3616G>A (p.Glu1206Lys) single nucleotide variant Cardiovascular phenotype [RCV002455912]|Dilated cardiomyopathy 1DD [RCV001243445]|Primary familial dilated cardiomyopathy [RCV000622264]|RBM20-related disorder [RCV004751555]|not provided [RCV000484750]|not specified [RCV003993978] Chr10:110835910 [GRCh38]
Chr10:112595668 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.442G>A (p.Gly148Ser) single nucleotide variant Cardiovascular phenotype [RCV002329073]|Dilated cardiomyopathy 1DD [RCV000456604]|not specified [RCV003226299] Chr10:110781051 [GRCh38]
Chr10:112540809 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.299T>G (p.Leu100Arg) single nucleotide variant Cardiovascular phenotype [RCV004022882]|Dilated cardiomyopathy 1DD [RCV000460797] Chr10:110780908 [GRCh38]
Chr10:112540666 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2042A>G (p.Tyr681Cys) single nucleotide variant Cardiomyopathy [RCV001798854]|Cardiovascular phenotype [RCV000620460]|Dilated cardiomyopathy 1DD [RCV000515711]|not provided [RCV000481759] Chr10:110812439 [GRCh38]
Chr10:112572197 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3666C>T (p.Phe1222=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001406867] Chr10:110835960 [GRCh38]
Chr10:112595718 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1250G>A (p.Cys417Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000465047]|not provided [RCV000786396] Chr10:110781859 [GRCh38]
Chr10:112541617 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) single nucleotide variant Cardiovascular phenotype [RCV002411511]|Dilated cardiomyopathy 1DD [RCV000472655]|not provided [RCV000497722] Chr10:110812297 [GRCh38]
Chr10:112572055 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.434G>A (p.Gly145Asp) single nucleotide variant Cardiovascular phenotype [RCV002329072]|Dilated cardiomyopathy 1DD [RCV000461714] Chr10:110781043 [GRCh38]
Chr10:112540801 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3216C>T (p.Pro1072=) single nucleotide variant Cardiovascular phenotype [RCV002446910]|Dilated cardiomyopathy 1DD [RCV001498796]|not provided [RCV000469163] Chr10:110821835 [GRCh38]
Chr10:112581593 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.710G>T (p.Gly237Val) single nucleotide variant Cardiovascular phenotype [RCV004984899]|Dilated cardiomyopathy 1DD [RCV000473219] Chr10:110781319 [GRCh38]
Chr10:112541077 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.348C>T (p.Ala116=) single nucleotide variant Cardiomyopathy [RCV000770271]|Cardiovascular phenotype [RCV002455900]|Dilated cardiomyopathy 1DD [RCV000473221]|not provided [RCV000842176]|not specified [RCV000614300] Chr10:110780957 [GRCh38]
Chr10:112540715 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.901G>C (p.Ala301Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002526982]|not provided [RCV000487068] Chr10:110781510 [GRCh38]
Chr10:112541268 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.3564G>C (p.Arg1188Ser) single nucleotide variant Cardiovascular phenotype [RCV002339184]|Dilated cardiomyopathy 1DD [RCV000473426] Chr10:110831173 [GRCh38]
Chr10:112590931 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.761C>T (p.Ser254Leu) single nucleotide variant Cardiovascular phenotype [RCV002393158]|Dilated cardiomyopathy 1DD [RCV000462628]|not specified [RCV002230636] Chr10:110781370 [GRCh38]
Chr10:112541128 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3269T>C (p.Ile1090Thr) single nucleotide variant not provided [RCV000497590] Chr10:110821888 [GRCh38]
Chr10:112581646 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.152CGCCCC[3] (p.Pro53_Pro54dup) microsatellite Dilated cardiomyopathy 1DD [RCV000811320]|not provided [RCV000497706] Chr10:110644604..110644605 [GRCh38]
Chr10:112404362..112404363 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1527+2del deletion Dilated cardiomyopathy 1DD [RCV005091064]|not provided [RCV000498089] Chr10:110784891 [GRCh38]
Chr10:112544649 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2119T>A (p.Trp707Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001865572]|not provided [RCV000498338] Chr10:110812516 [GRCh38]
Chr10:112572274 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.68C>T (p.Ala23Val) single nucleotide variant Cardiovascular phenotype [RCV004659074]|Dilated cardiomyopathy 1DD [RCV000535151]|not provided [RCV000493960] Chr10:110644522 [GRCh38]
Chr10:112404280 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1904C>G (p.Ser635Cys) single nucleotide variant Dilated cardiomyopathy 1S [RCV000491360] Chr10:110812301 [GRCh38]
Chr10:112572059 [GRCh37]
Chr10:10q25.2		 likely pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143) copy number gain See cases [RCV000511389] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic|uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:106003533-135427143)x3 copy number gain See cases [RCV000510813] Chr10:106003533..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3 copy number gain See cases [RCV000510861] Chr10:100027..135427143 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3 copy number gain See cases [RCV000510972] Chr10:93283493..135427143 [GRCh37]
Chr10:10q23.32-26.3		 pathogenic
NM_001134363.3(RBM20):c.2716G>A (p.Glu906Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000557456] Chr10:110821335 [GRCh38]
Chr10:112581093 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1961C>T (p.Ser654Phe) single nucleotide variant not specified [RCV003317793] Chr10:110812358 [GRCh38]
Chr10:112572116 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2497A>G (p.Arg833Gly) single nucleotide variant Cardiovascular phenotype [RCV002431663]|Dilated cardiomyopathy 1DD [RCV000560694]|not provided [RCV001755860] Chr10:110812894 [GRCh38]
Chr10:112572652 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1881-19C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002063938]|not specified [RCV000605107] Chr10:110812259 [GRCh38]
Chr10:112572017 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1801-5G>T single nucleotide variant Cardiovascular phenotype [RCV003159877]|Dilated cardiomyopathy 1DD [RCV000535886] Chr10:110810378 [GRCh38]
Chr10:112570136 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.99G>C (p.Pro33=) single nucleotide variant Cardiovascular phenotype [RCV002384324]|Dilated cardiomyopathy 1DD [RCV001103236]|RBM20-related disorder [RCV003892334]|not provided [RCV000757720]|not specified [RCV000600028] Chr10:110644553 [GRCh38]
Chr10:112404311 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.465TGC[1] (p.Ala158del) microsatellite Cardiovascular phenotype [RCV003162757]|Dilated cardiomyopathy 1DD [RCV000613931] Chr10:110781074..110781076 [GRCh38]
Chr10:112540832..112540834 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.36C>A (p.Asp12Glu) single nucleotide variant Cardiovascular phenotype [RCV000621789]|Dilated cardiomyopathy 1DD [RCV000802264] Chr10:110644490 [GRCh38]
Chr10:112404248 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.-8C>T single nucleotide variant not specified [RCV000606111] Chr10:110644447 [GRCh38]
Chr10:112404205 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1969_1970delinsAG (p.Ser657=) indel Cardiomyopathy [RCV000769266]|Cardiovascular phenotype [RCV002422356]|Dilated cardiomyopathy 1DD [RCV000647147]|not provided [RCV001724115] Chr10:110812366..110812367 [GRCh38]
Chr10:112572124..112572125 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.882C>A (p.Ser294Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647148] Chr10:110781491 [GRCh38]
Chr10:112541249 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3602G>A (p.Gly1201Asp) single nucleotide variant Cardiovascular phenotype [RCV002458107]|Dilated cardiomyopathy 1DD [RCV000647149]|not provided [RCV003162943] Chr10:110835896 [GRCh38]
Chr10:112595654 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2153T>C (p.Leu718Pro) single nucleotide variant Cardiovascular phenotype [RCV004025728]|Dilated cardiomyopathy 1DD [RCV000647150] Chr10:110812550 [GRCh38]
Chr10:112572308 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1787A>C (p.Glu596Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647151] Chr10:110799905 [GRCh38]
Chr10:112559663 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3655G>A (p.Val1219Met) single nucleotide variant Cardiomyopathy [RCV003486908]|Dilated cardiomyopathy 1DD [RCV000647155] Chr10:110835949 [GRCh38]
Chr10:112595707 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1139G>A (p.Arg380Gln) single nucleotide variant Cardiovascular phenotype [RCV002458108]|Dilated cardiomyopathy 1DD [RCV000647157]|not provided [RCV001836856] Chr10:110781748 [GRCh38]
Chr10:112541506 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3394C>G (p.Leu1132Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647159] Chr10:110823557 [GRCh38]
Chr10:112583315 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2100G>C (p.Lys700Asn) single nucleotide variant Cardiovascular phenotype [RCV002422357]|Dilated cardiomyopathy 1DD [RCV000647160] Chr10:110812497 [GRCh38]
Chr10:112572255 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) single nucleotide variant Cardiovascular phenotype [RCV002424486]|Dilated cardiomyopathy 1DD [RCV000647165]|Primary dilated cardiomyopathy [RCV001375652]|not provided [RCV001528428] Chr10:110812573 [GRCh38]
Chr10:112572331 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.870A>G (p.Ser290=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647167] Chr10:110781479 [GRCh38]
Chr10:112541237 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1598A>G (p.Asn533Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647169] Chr10:110797578 [GRCh38]
Chr10:112557336 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2436_2442del (p.Arg813fs) deletion Dilated cardiomyopathy 1DD [RCV000647170] Chr10:110812832..110812838 [GRCh38]
Chr10:112572590..112572596 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3044C>T (p.Thr1015Ile) single nucleotide variant Cardiovascular phenotype [RCV002449058]|Dilated cardiomyopathy 1A [RCV001256894]|Dilated cardiomyopathy 1DD [RCV000647171]|not provided [RCV003126891] Chr10:110821663 [GRCh38]
Chr10:112581421 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1767G>T (p.Arg589=) single nucleotide variant Cardiomyopathy [RCV001798949]|Cardiovascular phenotype [RCV002397265]|Dilated cardiomyopathy 1DD [RCV000647176] Chr10:110799885 [GRCh38]
Chr10:112559643 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2868C>A (p.Asp956Glu) single nucleotide variant Cardiovascular phenotype [RCV002440330]|Dilated cardiomyopathy 1DD [RCV000647177]|RBM20-related disorder [RCV003411526] Chr10:110821487 [GRCh38]
Chr10:112581245 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1723C>G (p.Gln575Glu) single nucleotide variant Cardiovascular phenotype [RCV002406425]|Dilated cardiomyopathy 1DD [RCV000647178] Chr10:110799841 [GRCh38]
Chr10:112559599 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.318_327delinsG (p.Gln107_Ala109del) indel Dilated cardiomyopathy 1DD [RCV000647179] Chr10:110780927..110780936 [GRCh38]
Chr10:112540685..112540694 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3609G>A (p.Lys1203=) single nucleotide variant Cardiovascular phenotype [RCV002458109]|Dilated cardiomyopathy 1DD [RCV000647180] Chr10:110835903 [GRCh38]
Chr10:112595661 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.420G>A (p.Pro140=) single nucleotide variant Cardiovascular phenotype [RCV002331215]|Dilated cardiomyopathy 1DD [RCV000647187] Chr10:110781029 [GRCh38]
Chr10:112540787 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1935G>A (p.Pro645=) single nucleotide variant Cardiovascular phenotype [RCV002406426]|Dilated cardiomyopathy 1DD [RCV000647189]|not specified [RCV002234083] Chr10:110812332 [GRCh38]
Chr10:112572090 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3584C>G (p.Ser1195Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000541344]|not provided [RCV000786173] Chr10:110835878 [GRCh38]
Chr10:112595636 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112579810)_(112595756_?)dup duplication Dilated cardiomyopathy 1DD [RCV000555562] Chr10:110820052..110835998 [GRCh38]
Chr10:112579810..112595756 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1016G>A (p.Trp339Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000624264] Chr10:110781625 [GRCh38]
Chr10:112541383 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.2324_2358del (p.Gln775fs) deletion Cardiovascular phenotype [RCV000617495] Chr10:110812720..110812754 [GRCh38]
Chr10:112572478..112572512 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.700G>A (p.Ala234Thr) single nucleotide variant Cardiovascular phenotype [RCV000617841] Chr10:110781309 [GRCh38]
Chr10:112541067 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2572G>A (p.Gly858Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001853640]|not provided [RCV000519062] Chr10:110820093 [GRCh38]
Chr10:112579851 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2004C>A (p.Asp668Glu) single nucleotide variant Cardiovascular phenotype [RCV000618042]|Dilated cardiomyopathy 1DD [RCV001241272]|Primary dilated cardiomyopathy [RCV001293162] Chr10:110812401 [GRCh38]
Chr10:112572159 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.2436T>A (p.Thr812=) single nucleotide variant Cardiovascular phenotype [RCV002456323]|Dilated cardiomyopathy 1DD [RCV002529385]|not specified [RCV000607198] Chr10:110812833 [GRCh38]
Chr10:112572591 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1113C>T (p.Ser371=) single nucleotide variant Cardiovascular phenotype [RCV002438606]|Dilated cardiomyopathy 1DD [RCV000867790]|not specified [RCV000607779] Chr10:110781722 [GRCh38]
Chr10:112541480 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626438] Chr10:42347406..135534747 [GRCh37]
Chr10:10q11.21-26.3		 drug response
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000601508]|not provided [RCV001700235] Chr10:110821380 [GRCh38]
Chr10:112581138 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1430-20_1430-19del deletion Dilated cardiomyopathy 1DD [RCV000603833]|not provided [RCV001724085]|not specified [RCV001700233] Chr10:110784771..110784772 [GRCh38]
Chr10:112544529..112544530 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2860G>C (p.Asp954His) single nucleotide variant Cardiovascular phenotype [RCV000620771] Chr10:110821479 [GRCh38]
Chr10:112581237 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3378G>A (p.Val1126=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000608210]|not specified [RCV001701058] Chr10:110823541 [GRCh38]
Chr10:112583299 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.136C>T (p.Pro46Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002529327]|not specified [RCV000615660] Chr10:110644590 [GRCh38]
Chr10:112404348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1101G>T (p.Arg367=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000614563]|not provided [RCV001727774] Chr10:110781710 [GRCh38]
Chr10:112541468 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.686A>G (p.Tyr229Cys) single nucleotide variant Cardiovascular phenotype [RCV000617227]|Dilated cardiomyopathy 1DD [RCV001860382]|Primary dilated cardiomyopathy [RCV000850344] Chr10:110781295 [GRCh38]
Chr10:112541053 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2988C>T (p.Asp996=) single nucleotide variant Cardiovascular phenotype [RCV002438566]|Dilated cardiomyopathy 1DD [RCV002529494]|not specified [RCV000615386] Chr10:110821607 [GRCh38]
Chr10:112581365 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+7A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002529514]|not specified [RCV000607083] Chr10:110812954 [GRCh38]
Chr10:112572712 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1545G>C (p.Gly515=) single nucleotide variant Cardiovascular phenotype [RCV002404671]|Dilated cardiomyopathy 1DD [RCV002528561]|not specified [RCV000610209] Chr10:110797525 [GRCh38]
Chr10:112557283 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1528-16T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002066798]|not specified [RCV000613315] Chr10:110797492 [GRCh38]
Chr10:112557250 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.169G>A (p.Gly57Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000533836] Chr10:110644623 [GRCh38]
Chr10:112404381 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1670C>A (p.Ala557Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000557659] Chr10:110799788 [GRCh38]
Chr10:112559546 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2075C>T (p.Pro692Leu) single nucleotide variant Cardiovascular phenotype [RCV003310675] Chr10:110812472 [GRCh38]
Chr10:112572230 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1361G>T (p.Gly454Val) single nucleotide variant Cardiovascular phenotype [RCV003310678] Chr10:110784364 [GRCh38]
Chr10:112544122 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2390A>T (p.His797Leu) single nucleotide variant Long QT syndrome [RCV003318458] Chr10:110812787 [GRCh38]
Chr10:112572545 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1814C>T (p.Ala605Val) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000622931]|Cardiovascular phenotype [RCV002413776]|Dilated cardiomyopathy 1DD [RCV001065342]|not provided [RCV001731814] Chr10:110810396 [GRCh38]
Chr10:112570154 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3185T>C (p.Phe1062Ser) single nucleotide variant Cardiovascular phenotype [RCV002325141]|Dilated cardiomyopathy 1DD [RCV001363098]|not provided [RCV004773037]|not specified [RCV000614621] Chr10:110821804 [GRCh38]
Chr10:112581562 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1338-1G>T single nucleotide variant Cardiovascular phenotype [RCV002385958]|Dilated cardiomyopathy 1DD [RCV001855291]|not provided [RCV000624396] Chr10:110784340 [GRCh38]
Chr10:112544098 [GRCh37]
Chr10:10q25.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2941C>G (p.Pro981Ala) single nucleotide variant Cardiovascular phenotype [RCV003310669] Chr10:110821560 [GRCh38]
Chr10:112581318 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3280C>G (p.Leu1094Val) single nucleotide variant Cardiovascular phenotype [RCV003310670] Chr10:110821899 [GRCh38]
Chr10:112581657 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2640C>T (p.Asn880=) single nucleotide variant Cardiovascular phenotype [RCV003310674] Chr10:110820161 [GRCh38]
Chr10:112579919 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1072G>A (p.Asp358Asn) single nucleotide variant Cardiovascular phenotype [RCV003310676]|Dilated cardiomyopathy 1DD [RCV003777172] Chr10:110781681 [GRCh38]
Chr10:112541439 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1553G>A (p.Arg518His) single nucleotide variant Cardiovascular phenotype [RCV000617941]|Dilated cardiomyopathy 1DD [RCV001306011] Chr10:110797533 [GRCh38]
Chr10:112557291 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3588G>A (p.Gln1196=) single nucleotide variant not specified [RCV000603324] Chr10:110835882 [GRCh38]
Chr10:112595640 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.567G>T (p.Gln189His) single nucleotide variant Cardiovascular phenotype [RCV000619571]|Dilated cardiomyopathy 1DD [RCV001243574]|not specified [RCV001175080] Chr10:110781176 [GRCh38]
Chr10:112540934 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1380G>A (p.Leu460=) single nucleotide variant Cardiovascular phenotype [RCV000620611]|Dilated cardiomyopathy 1DD [RCV002066935] Chr10:110784383 [GRCh38]
Chr10:112544141 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.129GCC[4] (p.Pro48del) microsatellite Cardiovascular phenotype [RCV002395625]|Dilated cardiomyopathy 1DD [RCV000801181]|not specified [RCV000599866] Chr10:110644583..110644585 [GRCh38]
Chr10:112404341..112404343 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1400C>G (p.Thr467Arg) single nucleotide variant Cardiomyopathy [RCV001798947]|Cardiovascular phenotype [RCV002388112]|Dilated cardiomyopathy 1DD [RCV000647152]|not provided [RCV001571373] Chr10:110784403 [GRCh38]
Chr10:112544161 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2968A>G (p.Ser990Gly) single nucleotide variant Cardiovascular phenotype [RCV002440329]|Dilated cardiomyopathy 1DD [RCV000647153]|not provided [RCV002223897] Chr10:110821587 [GRCh38]
Chr10:112581345 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2720A>C (p.Glu907Ala) single nucleotide variant Cardiovascular phenotype [RCV004659143]|Dilated cardiomyopathy 1DD [RCV000647163] Chr10:110821339 [GRCh38]
Chr10:112581097 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3226G>T (p.Ala1076Ser) single nucleotide variant Cardiomyopathy [RCV001798948]|Cardiovascular phenotype [RCV002449057]|Dilated cardiomyopathy 1DD [RCV000647164] Chr10:110821845 [GRCh38]
Chr10:112581603 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) single nucleotide variant Cardiovascular phenotype [RCV002325279]|Dilated cardiomyopathy 1DD [RCV000647168]|not provided [RCV001700287] Chr10:110823507 [GRCh38]
Chr10:112583265 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3316+8T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000647181] Chr10:110821943 [GRCh38]
Chr10:112581701 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3654C>T (p.Ile1218=) single nucleotide variant Cardiovascular phenotype [RCV002458110]|Dilated cardiomyopathy 1DD [RCV000647183] Chr10:110835948 [GRCh38]
Chr10:112595706 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2346C>G (p.Ser782=) single nucleotide variant Cardiovascular phenotype [RCV003303051]|Dilated cardiomyopathy 1DD [RCV000647184] Chr10:110812743 [GRCh38]
Chr10:112572501 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1218C>A (p.Ala406=) single nucleotide variant Cardiovascular phenotype [RCV004659144]|Dilated cardiomyopathy 1DD [RCV000647185] Chr10:110781827 [GRCh38]
Chr10:112541585 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3279C>T (p.Asp1093=) single nucleotide variant Cardiovascular phenotype [RCV003162945]|Dilated cardiomyopathy 1DD [RCV000647191]|not specified [RCV000825222] Chr10:110821898 [GRCh38]
Chr10:112581656 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1701A>G (p.Ala567=) single nucleotide variant Cardiovascular phenotype [RCV003303052]|Dilated cardiomyopathy 1DD [RCV000647192] Chr10:110799819 [GRCh38]
Chr10:112559577 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.225G>A (p.Ser75=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001467915] Chr10:110780834 [GRCh38]
Chr10:112540592 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3075C>T (p.Tyr1025=) single nucleotide variant Cardiovascular phenotype [RCV004025729]|Dilated cardiomyopathy 1DD [RCV000647196] Chr10:110821694 [GRCh38]
Chr10:112581452 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1050C>T (p.Tyr350=) single nucleotide variant Cardiovascular phenotype [RCV002397266]|Dilated cardiomyopathy 1DD [RCV000647197]|RBM20-related disorder [RCV003953164]|not provided [RCV001613423]|not specified [RCV001255574] Chr10:110781659 [GRCh38]
Chr10:112541417 [GRCh37]
Chr10:10q25.2		 likely benign
NC_000010.11:g.(?_110644435)_(110823634_?)del deletion Dilated cardiomyopathy 1DD [RCV000647201] Chr10:110644435..110823634 [GRCh38]
Chr10:112404193..112583392 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3316+9C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000601364]|not specified [RCV001701061] Chr10:110821944 [GRCh38]
Chr10:112581702 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2945G>T (p.Arg982Ile) single nucleotide variant Cardiovascular phenotype [RCV000621432]|Dilated cardiomyopathy 1DD [RCV005091764] Chr10:110821564 [GRCh38]
Chr10:112581322 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2070G>A (p.Pro690=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001860257]|not specified [RCV000606061] Chr10:110812467 [GRCh38]
Chr10:112572225 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.468T>A (p.Ala156=) single nucleotide variant Cardiovascular phenotype [RCV002331079]|not specified [RCV000606332] Chr10:110781077 [GRCh38]
Chr10:112540835 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.934C>A (p.Leu312Met) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656209] Chr10:110781543 [GRCh38]
Chr10:112541301 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.710G>A (p.Gly237Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003825449] Chr10:110781319 [GRCh38]
Chr10:112541077 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2567A>C (p.Gln856Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000687017]|not provided [RCV003424277] Chr10:110820088 [GRCh38]
Chr10:112579846 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2605C>T (p.Gln869Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000699448]|not provided [RCV001766521] Chr10:110820126 [GRCh38]
Chr10:112579884 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3315G>A (p.Pro1105=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000686859]|not provided [RCV001726301]|not specified [RCV001700448] Chr10:110821934 [GRCh38]
Chr10:112581692 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
GRCh37/hg19 10q24.33-26.3(chr10:105613040-135427143)x3 copy number gain not provided [RCV000683290] Chr10:105613040..135427143 [GRCh37]
Chr10:10q24.33-26.3		 pathogenic
GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3 copy number gain not provided [RCV000683291] Chr10:94346520..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_001134363.3(RBM20):c.2688G>T (p.Glu896Asp) single nucleotide variant Cardiovascular phenotype [RCV002424683]|Dilated cardiomyopathy 1DD [RCV000699450] Chr10:110821307 [GRCh38]
Chr10:112581065 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2434A>C (p.Thr812Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000686339] Chr10:110812831 [GRCh38]
Chr10:112572589 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2371C>G (p.Arg791Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000706788] Chr10:110812768 [GRCh38]
Chr10:112572526 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1898C>T (p.Pro633Leu) single nucleotide variant Cardiovascular phenotype [RCV002406584]|Dilated cardiomyopathy 1DD [RCV000693408]|Primary dilated cardiomyopathy [RCV000722051] Chr10:110812295 [GRCh38]
Chr10:112572053 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.2264G>A (p.Arg755His) single nucleotide variant Cardiovascular phenotype [RCV002442433]|Dilated cardiomyopathy 1DD [RCV001081756] Chr10:110812661 [GRCh38]
Chr10:112572419 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys) single nucleotide variant Cardiovascular phenotype [RCV004026235]|Dilated cardiomyopathy 1DD [RCV000686422] Chr10:110821920 [GRCh38]
Chr10:112581678 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1800+4A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV000692528] Chr10:110799922 [GRCh38]
Chr10:112559680 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.838A>G (p.Lys280Glu) single nucleotide variant Cardiovascular phenotype [RCV002440490]|Dilated cardiomyopathy 1DD [RCV000697481] Chr10:110781447 [GRCh38]
Chr10:112541205 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.485C>T (p.Thr162Ile) single nucleotide variant Cardiomyopathy [RCV001798964]|Dilated cardiomyopathy 1DD [RCV000702187] Chr10:110781094 [GRCh38]
Chr10:112540852 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.680G>A (p.Gly227Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000695184] Chr10:110781289 [GRCh38]
Chr10:112541047 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1265T>C (p.Phe422Ser) single nucleotide variant Cardiovascular phenotype [RCV002369887]|Dilated cardiomyopathy 1DD [RCV000695340] Chr10:110781874 [GRCh38]
Chr10:112541632 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1766G>A (p.Arg589Gln) single nucleotide variant Cardiomyopathy [RCV003486920]|Dilated cardiomyopathy 1DD [RCV000693819] Chr10:110799884 [GRCh38]
Chr10:112559642 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2689G>C (p.Gly897Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000705463] Chr10:110821308 [GRCh38]
Chr10:112581066 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.629C>T (p.Pro210Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000684876] Chr10:110781238 [GRCh38]
Chr10:112540996 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1244G>A (p.Ser415Asn) single nucleotide variant Cardiovascular phenotype [RCV002388170]|Dilated cardiomyopathy 1DD [RCV000696448]|not provided [RCV001584522] Chr10:110781853 [GRCh38]
Chr10:112541611 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2347A>G (p.Arg783Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000694444] Chr10:110812744 [GRCh38]
Chr10:112572502 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.188A>G (p.Gln63Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000686619] Chr10:110644642 [GRCh38]
Chr10:112404400 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3040G>T (p.Glu1014Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000703597] Chr10:110821659 [GRCh38]
Chr10:112581417 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.11:g.110644216G>A single nucleotide variant not provided [RCV001547525] Chr10:110644216 [GRCh38]
Chr10:112403974 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q25.2(chr10:112559414-112668381)x3 copy number gain not provided [RCV000749821] Chr10:112559414..112668381 [GRCh37]
Chr10:10q25.2		 benign
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3 copy number gain not provided [RCV000749464] Chr10:73232..135524321 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3 copy number gain not provided [RCV000749465] Chr10:98087..135477883 [GRCh37]
Chr10:10p15.3-q26.3		 pathogenic
NM_001134363.3(RBM20):c.762G>A (p.Ser254=) single nucleotide variant Cardiomyopathy [RCV003150451]|Cardiovascular phenotype [RCV002388626]|Dilated cardiomyopathy 1DD [RCV002538598]|not provided [RCV001668109] Chr10:110781371 [GRCh38]
Chr10:112541129 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3270C>T (p.Ile1090=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001440904] Chr10:110821889 [GRCh38]
Chr10:112581647 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.146A>C (p.Gln49Pro) single nucleotide variant not provided [RCV001702278] Chr10:110644600 [GRCh38]
Chr10:112404358 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-7C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001440395] Chr10:110812271 [GRCh38]
Chr10:112572029 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527+49TTTA[3] microsatellite not provided [RCV001545100] Chr10:110784937..110784938 [GRCh38]
Chr10:112544695..112544696 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2331T>C (p.Asp777=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001285912] Chr10:110812728 [GRCh38]
Chr10:112572486 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-33_3317-22del deletion not provided [RCV001572453] Chr10:110823432..110823443 [GRCh38]
Chr10:112583190..112583201 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3451+293dup duplication not provided [RCV001709137] Chr10:110823893..110823894 [GRCh38]
Chr10:112583651..112583652 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3316+259del deletion not provided [RCV001574788] Chr10:110822194 [GRCh38]
Chr10:112581952 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-27_3317-22del deletion not provided [RCV001583936] Chr10:110823432..110823437 [GRCh38]
Chr10:112583190..112583195 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2239C>G (p.His747Asp) single nucleotide variant not provided [RCV003314921] Chr10:110812636 [GRCh38]
Chr10:112572394 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.924C>G (p.Val308=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598808] Chr10:110781533 [GRCh38]
Chr10:112541291 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1429+129C>A single nucleotide variant not provided [RCV001565656] Chr10:110784561 [GRCh38]
Chr10:112544319 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1800+58C>T single nucleotide variant not provided [RCV001551834] Chr10:110799976 [GRCh38]
Chr10:112559734 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-31_3317-22del deletion not provided [RCV001570594] Chr10:110823432..110823441 [GRCh38]
Chr10:112583190..112583199 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1669-6_1669-3del microsatellite Dilated cardiomyopathy 1DD [RCV000866598]|not provided [RCV001540348] Chr10:110799774..110799777 [GRCh38]
Chr10:112559532..112559535 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3492G>A (p.Lys1164=) single nucleotide variant Cardiovascular phenotype [RCV004029759]|Dilated cardiomyopathy 1DD [RCV000945004] Chr10:110831101 [GRCh38]
Chr10:112590859 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1056C>T (p.Pro352=) single nucleotide variant Cardiovascular phenotype [RCV002399870]|Dilated cardiomyopathy 1DD [RCV000863230]|not provided [RCV003326515] Chr10:110781665 [GRCh38]
Chr10:112541423 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3273A>G (p.Glu1091=) single nucleotide variant Cardiovascular phenotype [RCV002320161]|Dilated cardiomyopathy 1DD [RCV000946123] Chr10:110821892 [GRCh38]
Chr10:112581650 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1221C>A (p.Pro407=) single nucleotide variant Cardiomyopathy [RCV001799011]|Cardiovascular phenotype [RCV004659268]|Dilated cardiomyopathy 1DD [RCV001474666]|RBM20-related disorder [RCV004751828] Chr10:110781830 [GRCh38]
Chr10:112541588 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1996C>T (p.Arg666Trp) single nucleotide variant Cardiovascular phenotype [RCV004027680]|Dilated cardiomyopathy 1DD [RCV000866867] Chr10:110812393 [GRCh38]
Chr10:112572151 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-4G>T single nucleotide variant not provided [RCV000945667] Chr10:110823476 [GRCh38]
Chr10:112583234 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.936G>T (p.Leu312=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001444912] Chr10:110781545 [GRCh38]
Chr10:112541303 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3594C>T (p.Ala1198=) single nucleotide variant Cardiovascular phenotype [RCV002454173]|Dilated cardiomyopathy 1DD [RCV001418353] Chr10:110835888 [GRCh38]
Chr10:112595646 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1765C>T (p.Arg589Trp) single nucleotide variant Cardiovascular phenotype [RCV003160217]|Dilated cardiomyopathy 1DD [RCV001036796]|not provided [RCV005004493] Chr10:110799883 [GRCh38]
Chr10:112559641 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.262A>G (p.Ser88Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001035071] Chr10:110780871 [GRCh38]
Chr10:112540629 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2500G>C (p.Asp834His) single nucleotide variant Cardiovascular phenotype [RCV003310671]|Dilated cardiomyopathy 1DD [RCV003598166] Chr10:110812897 [GRCh38]
Chr10:112572655 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1130G>A (p.Gly377Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001041449] Chr10:110781739 [GRCh38]
Chr10:112541497 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3173A>G (p.Gln1058Arg) single nucleotide variant Cardiovascular phenotype [RCV004986775]|Dilated cardiomyopathy 1DD [RCV001053038] Chr10:110821792 [GRCh38]
Chr10:112581550 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2182G>T (p.Glu728Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001058901] Chr10:110812579 [GRCh38]
Chr10:112572337 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3601G>A (p.Gly1201Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001071560] Chr10:110835895 [GRCh38]
Chr10:112595653 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3431G>A (p.Ser1144Asn) single nucleotide variant Cardiovascular phenotype [RCV004986762]|Dilated cardiomyopathy 1DD [RCV001048752] Chr10:110823594 [GRCh38]
Chr10:112583352 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.3245T>C (p.Leu1082Pro) single nucleotide variant Primary familial dilated cardiomyopathy [RCV000845498] Chr10:110821864 [GRCh38]
Chr10:112581622 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2989G>A (p.Val997Met) single nucleotide variant Cardiovascular phenotype [RCV002440742]|Dilated cardiomyopathy 1A [RCV001256956]|Dilated cardiomyopathy 1DD [RCV000810120]|not specified [RCV003317378] Chr10:110821608 [GRCh38]
Chr10:112581366 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3453G>A (p.Gly1151=) single nucleotide variant Cardiomyopathy [RCV000770286] Chr10:110831062 [GRCh38]
Chr10:112590820 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1516G>A (p.Val506Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005056611]|not specified [RCV000826028] Chr10:110784878 [GRCh38]
Chr10:112544636 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:110022170-135439095) copy number gain not provided [RCV000767665] Chr10:110022170..135439095 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_001134363.3(RBM20):c.1175G>C (p.Arg392Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000809829] Chr10:110781784 [GRCh38]
Chr10:112541542 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.794_795dup (p.His266fs) duplication Dilated cardiomyopathy 1DD [RCV000778272]|not provided [RCV003328626] Chr10:110781401..110781402 [GRCh38]
Chr10:112541159..112541160 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3660A>G (p.Pro1220=) single nucleotide variant Cardiomyopathy [RCV000770289]|Dilated cardiomyopathy 1DD [RCV001518447] Chr10:110835954 [GRCh38]
Chr10:112595712 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3316+7A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001499768] Chr10:110821942 [GRCh38]
Chr10:112581700 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2118C>T (p.Pro706=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001496726] Chr10:110812515 [GRCh38]
Chr10:112572273 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.150A>G (p.Pro50=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001502401] Chr10:110644604 [GRCh38]
Chr10:112404362 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1830C>A (p.Ile610=) single nucleotide variant Cardiovascular phenotype [RCV002409162]|Dilated cardiomyopathy 1DD [RCV001477720] Chr10:110810412 [GRCh38]
Chr10:112570170 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1338-9C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001410427] Chr10:110784332 [GRCh38]
Chr10:112544090 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1880+9C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV000943819] Chr10:110810471 [GRCh38]
Chr10:112570229 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2424G>T (p.Gly808=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000863891]|not provided [RCV001724177]|not specified [RCV001701455] Chr10:110812821 [GRCh38]
Chr10:112572579 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1815C>T (p.Ala605=) single nucleotide variant Cardiomyopathy [RCV001798995]|Cardiovascular phenotype [RCV002409020]|Dilated cardiomyopathy 1DD [RCV001505303]|not provided [RCV000863480] Chr10:110810397 [GRCh38]
Chr10:112570155 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2451C>T (p.Gly817=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001451970] Chr10:110812848 [GRCh38]
Chr10:112572606 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3267C>T (p.Pro1089=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000884253] Chr10:110821886 [GRCh38]
Chr10:112581644 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1430-6A>G single nucleotide variant not provided [RCV000977939] Chr10:110784786 [GRCh38]
Chr10:112544544 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3451+7A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV000941427] Chr10:110823621 [GRCh38]
Chr10:112583379 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2719G>A (p.Glu907Lys) single nucleotide variant Cardiomyopathy [RCV000769274]|Cardiovascular phenotype [RCV002440596]|Dilated cardiomyopathy 1DD [RCV001359464] Chr10:110821338 [GRCh38]
Chr10:112581096 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3571C>A (p.Gln1191Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000809158] Chr10:110831180 [GRCh38]
Chr10:112590938 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2989G>T (p.Val997Leu) single nucleotide variant Cardiovascular phenotype [RCV002440781]|Dilated cardiomyopathy 1DD [RCV000814121]|RBM20-related disorder [RCV003396427]|not provided [RCV004768690] Chr10:110821608 [GRCh38]
Chr10:112581366 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2521del (p.Arg841fs) deletion Dilated cardiomyopathy 1DD [RCV000823183] Chr10:110812918 [GRCh38]
Chr10:112572676 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.294C>G (p.Leu98=) single nucleotide variant Cardiovascular phenotype [RCV002434264]|Dilated cardiomyopathy 1DD [RCV000937788] Chr10:110780903 [GRCh38]
Chr10:112540661 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-214del deletion not provided [RCV000832180] Chr10:110812064 [GRCh38]
Chr10:112571822 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1669-131G>A single nucleotide variant not provided [RCV000832347] Chr10:110799656 [GRCh38]
Chr10:112559414 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2518G>A (p.Asp840Asn) single nucleotide variant Cardiovascular phenotype [RCV002424812]|Dilated cardiomyopathy 1DD [RCV000794735]|not provided [RCV001759498] Chr10:110812915 [GRCh38]
Chr10:112572673 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3452-41G>C single nucleotide variant not provided [RCV000834770] Chr10:110831020 [GRCh38]
Chr10:112590778 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3316+188G>A single nucleotide variant not provided [RCV000832956] Chr10:110822123 [GRCh38]
Chr10:112581881 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2748AGA[2] (p.Glu918del) microsatellite Cardiovascular phenotype [RCV002440670]|Dilated cardiomyopathy 1DD [RCV000800141]|Hypertrophic cardiomyopathy [RCV001375653]|RBM20-related disorder [RCV003965592]|not provided [RCV001701443] Chr10:110821365..110821367 [GRCh38]
Chr10:112581123..112581125 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1222dup (p.Leu408fs) duplication Cardiovascular phenotype [RCV002360903]|Dilated cardiomyopathy 1DD [RCV002535736]|not provided [RCV000786399] Chr10:110781825..110781826 [GRCh38]
Chr10:112541583..112541584 [GRCh37]
Chr10:10q25.2		 pathogenic|uncertain significance
NC_000010.10:g.(?_112327555)_(112771596_?)dup duplication RASopathy [RCV000810682] Chr10:110567797..111011838 [GRCh38]
Chr10:112327555..112771596 [GRCh37]
Chr10:10q25.2		 pathogenic
NM_001134363.3(RBM20):c.1276-259A>G single nucleotide variant not provided [RCV000843928] Chr10:110783107 [GRCh38]
Chr10:112542865 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1669-256C>T single nucleotide variant not provided [RCV000843931] Chr10:110799531 [GRCh38]
Chr10:112559289 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.922G>A (p.Val308Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000808255] Chr10:110781531 [GRCh38]
Chr10:112541289 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1880+23T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001796267]|not provided [RCV000830573]|not specified [RCV001724168] Chr10:110810485 [GRCh38]
Chr10:110810485..110810486 [GRCh38]
Chr10:112570243 [GRCh37]
Chr10:112570243..112570244 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.832T>C (p.Phe278Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000816886] Chr10:110781441 [GRCh38]
Chr10:112541199 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3316+243C>G single nucleotide variant not provided [RCV000838711] Chr10:110822178 [GRCh38]
Chr10:112581936 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1171G>A (p.Val391Met) single nucleotide variant Cardiovascular phenotype [RCV003307630]|Dilated cardiomyopathy 1DD [RCV000870075]|RBM20-related disorder [RCV004751766]|not provided [RCV001529374] Chr10:110781780 [GRCh38]
Chr10:112541538 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-167C>T single nucleotide variant not provided [RCV000831255] Chr10:110819905 [GRCh38]
Chr10:112579663 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2656-153C>T single nucleotide variant not provided [RCV000831256] Chr10:110821122 [GRCh38]
Chr10:112580880 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2550+225G>A single nucleotide variant not provided [RCV000830367] Chr10:110813172 [GRCh38]
Chr10:112572930 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.563A>G (p.Asn188Ser) single nucleotide variant Cardiovascular phenotype [RCV002345776]|Dilated cardiomyopathy 1DD [RCV000799013]|RBM20-related disorder [RCV003396392] Chr10:110781172 [GRCh38]
Chr10:112540930 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1290T>C (p.His430=) single nucleotide variant Cardiovascular phenotype [RCV003380766]|Dilated cardiomyopathy 1DD [RCV000871609] Chr10:110783380 [GRCh38]
Chr10:112543138 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1337+166G>A single nucleotide variant not provided [RCV000835445] Chr10:110783593 [GRCh38]
Chr10:112543351 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1275+34T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001796264]|not provided [RCV000830362] Chr10:110781918 [GRCh38]
Chr10:112541676 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.569C>T (p.Pro190Leu) single nucleotide variant Cardiovascular phenotype [RCV004027988]|Dilated cardiomyopathy 1DD [RCV000799224]|not provided [RCV002466588] Chr10:110781178 [GRCh38]
Chr10:112540936 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2084A>G (p.Asp695Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000816031] Chr10:110812481 [GRCh38]
Chr10:112572239 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3452-237G>A single nucleotide variant not provided [RCV000838197] Chr10:110830824 [GRCh38]
Chr10:112590582 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2656-189C>T single nucleotide variant not provided [RCV000835127] Chr10:110821086 [GRCh38]
Chr10:112580844 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3573+194A>G single nucleotide variant not provided [RCV000831257] Chr10:110831376 [GRCh38]
Chr10:112591134 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1338-237A>G single nucleotide variant not provided [RCV000838705] Chr10:110784104 [GRCh38]
Chr10:112543862 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.19A>T (p.Met7Leu) single nucleotide variant not provided [RCV000788398] Chr10:110644473 [GRCh38]
Chr10:112404231 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.364C>G (p.Gln122Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495185]|not provided [RCV000788750] Chr10:110780973 [GRCh38]
Chr10:112540731 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1309G>T (p.Ala437Ser) single nucleotide variant Cardiovascular phenotype [RCV004027356]|Dilated cardiomyopathy 1DD [RCV005092347]|not provided [RCV000786192] Chr10:110783399 [GRCh38]
Chr10:112543157 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2234T>C (p.Leu745Pro) single nucleotide variant Cardiovascular phenotype [RCV004028808]|Dilated cardiomyopathy 1DD [RCV000814081] Chr10:110812631 [GRCh38]
Chr10:112572389 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1337+160G>A single nucleotide variant not provided [RCV000832318] Chr10:110783587 [GRCh38]
Chr10:112543345 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1658C>T (p.Ser553Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001046888]|not specified [RCV000826029] Chr10:110797638 [GRCh38]
Chr10:112557396 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3573+299T>C single nucleotide variant not provided [RCV000832793] Chr10:110831481 [GRCh38]
Chr10:112591239 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+268G>A single nucleotide variant not provided [RCV000833425] Chr10:110813215 [GRCh38]
Chr10:112572973 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2764G>A (p.Val922Met) single nucleotide variant Cardiovascular phenotype [RCV002433983]|Dilated cardiomyopathy 1DD [RCV000815233]|not provided [RCV003480861] Chr10:110821383 [GRCh38]
Chr10:112581141 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1517T>C (p.Val506Ala) single nucleotide variant Cardiovascular phenotype [RCV002390626]|Dilated cardiomyopathy 1DD [RCV000809720] Chr10:110784879 [GRCh38]
Chr10:112544637 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.50A>T (p.Glu17Val) single nucleotide variant not provided [RCV001090929] Chr10:110644504 [GRCh38]
Chr10:112404262 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2282G>A (p.Arg761Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001317857] Chr10:110812679 [GRCh38]
Chr10:112572437 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2193G>C (p.Arg731Ser) single nucleotide variant Cardiovascular phenotype [RCV004659223]|Dilated cardiomyopathy 1DD [RCV000810172] Chr10:110812590 [GRCh38]
Chr10:112572348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2579A>G (p.Glu860Gly) single nucleotide variant Cardiovascular phenotype [RCV002451179]|Dilated cardiomyopathy 1DD [RCV001045610]|not provided [RCV004726827] Chr10:110820100 [GRCh38]
Chr10:112579858 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1337+32G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001796265]|not provided [RCV000830364] Chr10:110783459 [GRCh38]
Chr10:112543217 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2550+168T>C single nucleotide variant not provided [RCV000830366] Chr10:110813115 [GRCh38]
Chr10:112572873 [GRCh37]
Chr10:10q25.2		 benign
NC_000010.10:g.(?_112540539)_(112595756_?)dup duplication Dilated cardiomyopathy 1DD [RCV000822553] Chr10:110780781..110835998 [GRCh38]
Chr10:112540539..112595756 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2388_2393dup (p.795_796HP[3]) duplication Dilated cardiomyopathy 1DD [RCV000812375] Chr10:110812782..110812783 [GRCh38]
Chr10:112572540..112572541 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1275+148T>C single nucleotide variant not provided [RCV000830629] Chr10:110782032 [GRCh38]
Chr10:112541790 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527+22C>G single nucleotide variant not provided [RCV000830630] Chr10:110784911 [GRCh38]
Chr10:112544669 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) single nucleotide variant Cardiovascular phenotype [RCV002458403]|Dilated cardiomyopathy 1DD [RCV000785602]|not provided [RCV000788751] Chr10:110831087 [GRCh38]
Chr10:112590845 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1543G>A (p.Gly515Arg) single nucleotide variant Cardiovascular phenotype [RCV003380709]|Dilated cardiomyopathy 1DD [RCV001306951]|not provided [RCV000786398] Chr10:110797523 [GRCh38]
Chr10:112557281 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1311T>C (p.Ala437=) single nucleotide variant Cardiovascular phenotype [RCV002385462]|Dilated cardiomyopathy 1DD [RCV005097429] Chr10:110783401 [GRCh38]
Chr10:112543159 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1275+36G>A single nucleotide variant not provided [RCV000830363] Chr10:110781920 [GRCh38]
Chr10:112541678 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1338-36A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001796266]|not provided [RCV000830365] Chr10:110784305 [GRCh38]
Chr10:112544063 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2732T>C (p.Val911Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000793882] Chr10:110821351 [GRCh38]
Chr10:112581109 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.70T>C (p.Cys24Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000795971] Chr10:110644524 [GRCh38]
Chr10:112404282 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2759T>G (p.Phe920Cys) single nucleotide variant Cardiovascular phenotype [RCV002433980]|Dilated cardiomyopathy 1DD [RCV000815150]|not provided [RCV001575504] Chr10:110821378 [GRCh38]
Chr10:112581136 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1528-205A>G single nucleotide variant not provided [RCV000833974] Chr10:110797303 [GRCh38]
Chr10:112557061 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1668+264A>G single nucleotide variant not provided [RCV000843930] Chr10:110797912 [GRCh38]
Chr10:112557670 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.168C>T (p.Ala56=) single nucleotide variant Cardiovascular phenotype [RCV002399873]|Dilated cardiomyopathy 1DD [RCV001394351] Chr10:110644622 [GRCh38]
Chr10:112404380 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3451+234A>G single nucleotide variant not provided [RCV000838195] Chr10:110823848 [GRCh38]
Chr10:112583606 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2905G>T (p.Val969Leu) single nucleotide variant Cardiovascular phenotype [RCV002440731]|Dilated cardiomyopathy 1DD [RCV000808538]|not provided [RCV004723220] Chr10:110821524 [GRCh38]
Chr10:112581282 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1444C>T (p.Leu482Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000797097] Chr10:110784806 [GRCh38]
Chr10:112544564 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.191+106C>T single nucleotide variant not provided [RCV000834919] Chr10:110644751 [GRCh38]
Chr10:112404509 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.540C>T (p.Pro180=) single nucleotide variant Cardiovascular phenotype [RCV002346167]|Dilated cardiomyopathy 1DD [RCV001424249] Chr10:110781149 [GRCh38]
Chr10:112540907 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3167C>T (p.Ala1056Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000797437] Chr10:110821786 [GRCh38]
Chr10:112581544 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3574-187A>G single nucleotide variant not provided [RCV000835329] Chr10:110835681 [GRCh38]
Chr10:112595439 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2065G>A (p.Asp689Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000804038] Chr10:110812462 [GRCh38]
Chr10:112572220 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.11:g.(?_110780791)_(110823624_?)del deletion Dilated cardiomyopathy 1DD [RCV000805906] Chr10:110780791..110823624 [GRCh38]
Chr10:112540549..112583382 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3198C>G (p.Cys1066Trp) single nucleotide variant not provided [RCV003239075] Chr10:110821817 [GRCh38]
Chr10:112581575 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.1(RBM20):c.-403C>A single nucleotide variant not provided [RCV000827967] Chr10:110644052 [GRCh38]
Chr10:112403810 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.349G>T (p.Ala117Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001046184] Chr10:110780958 [GRCh38]
Chr10:112540716 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2845G>T (p.Val949Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001068107] Chr10:110821464 [GRCh38]
Chr10:112581222 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.2(chr10:112448209-112601330)x3 copy number gain not provided [RCV000847198] Chr10:112448209..112601330 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1901G>T (p.Arg634Leu) single nucleotide variant Cardiovascular phenotype [RCV002409006]|Primary dilated cardiomyopathy [RCV000850340] Chr10:110812298 [GRCh38]
Chr10:112572056 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic
NM_001134363.3(RBM20):c.812G>A (p.Gly271Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001211937] Chr10:110781421 [GRCh38]
Chr10:112541179 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.722G>T (p.Gly241Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001228786] Chr10:110781331 [GRCh38]
Chr10:112541089 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1177C>G (p.Pro393Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001230941] Chr10:110781786 [GRCh38]
Chr10:112541544 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.464A>T (p.His155Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001209444] Chr10:110781073 [GRCh38]
Chr10:112540831 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3515G>A (p.Ser1172Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001209495]|RBM20-related disorder [RCV004751916] Chr10:110831124 [GRCh38]
Chr10:112590882 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3612G>T (p.Glu1204Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001223056] Chr10:110835906 [GRCh38]
Chr10:112595664 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1982C>G (p.Pro661Arg) single nucleotide variant Cardiovascular phenotype [RCV002418819]|Dilated cardiomyopathy 1DD [RCV001239665] Chr10:110812379 [GRCh38]
Chr10:112572137 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1196T>C (p.Leu399Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001223103] Chr10:110781805 [GRCh38]
Chr10:112541563 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2161G>A (p.Ala721Thr) single nucleotide variant Cardiovascular phenotype [RCV004032476]|Dilated cardiomyopathy 1DD [RCV001223516] Chr10:110812558 [GRCh38]
Chr10:112572316 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1653G>A (p.Met551Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001235128] Chr10:110797633 [GRCh38]
Chr10:112557391 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1352G>A (p.Cys451Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001241514] Chr10:110784355 [GRCh38]
Chr10:112544113 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.194C>G (p.Ala65Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001207100] Chr10:110780803 [GRCh38]
Chr10:112540561 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3452-2del deletion Dilated cardiomyopathy 1DD [RCV001239770] Chr10:110831059 [GRCh38]
Chr10:112590817 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3329A>T (p.Tyr1110Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001242104] Chr10:110823492 [GRCh38]
Chr10:112583250 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1186G>T (p.Ala396Ser) single nucleotide variant Cardiovascular phenotype [RCV002339542]|Dilated cardiomyopathy 1DD [RCV001210560]|not provided [RCV002274149] Chr10:110781795 [GRCh38]
Chr10:112541553 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.1051G>A (p.Asp351Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001225549] Chr10:110781660 [GRCh38]
Chr10:112541418 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1886G>T (p.Gly629Val) single nucleotide variant Cardiovascular phenotype [RCV004034882]|Dilated cardiomyopathy 1DD [RCV001247033] Chr10:110812283 [GRCh38]
Chr10:112572041 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3523A>G (p.Thr1175Ala) single nucleotide variant Cardiovascular phenotype [RCV004029271]|Dilated cardiomyopathy 1DD [RCV000866361]|Primary dilated cardiomyopathy [RCV000852636] Chr10:110831132 [GRCh38]
Chr10:112590890 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.298C>T (p.Leu100Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001858515]|Primary dilated cardiomyopathy [RCV000853145]|not provided [RCV004789238] Chr10:110780907 [GRCh38]
Chr10:112540665 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.141_161del (p.Pro48_Pro54del) deletion Cardiovascular phenotype [RCV002391052]|Dilated cardiomyopathy 1DD [RCV001052453]|not provided [RCV000994504] Chr10:110644590..110644610 [GRCh38]
Chr10:112404348..112404368 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1197G>A (p.Leu399=) single nucleotide variant not provided [RCV000994508] Chr10:110781806 [GRCh38]
Chr10:112541564 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2852C>G (p.Thr951Ser) single nucleotide variant not provided [RCV000994514] Chr10:110821471 [GRCh38]
Chr10:112581229 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1857G>T (p.Arg619Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001245897] Chr10:110810439 [GRCh38]
Chr10:112570197 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2021A>G (p.Asp674Gly) single nucleotide variant Cardiovascular phenotype [RCV002418725]|Dilated cardiomyopathy 1DD [RCV001212342] Chr10:110812418 [GRCh38]
Chr10:112572176 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2936A>G (p.Lys979Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001212352] Chr10:110821555 [GRCh38]
Chr10:112581313 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3112C>A (p.His1038Asn) single nucleotide variant Cardiomyopathy [RCV001170930]|Dilated cardiomyopathy 1DD [RCV001359810] Chr10:110821731 [GRCh38]
Chr10:112581489 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1619A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108746] Chr10:110837597 [GRCh38]
Chr10:112597355 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2673A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105522]|not provided [RCV004693629] Chr10:110838651 [GRCh38]
Chr10:112598409 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3317-21_3317-20delinsTT indel not specified [RCV001193515] Chr10:110823459..110823460 [GRCh38]
Chr10:112583217..112583218 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.160C>G (p.Pro54Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103237] Chr10:110644614 [GRCh38]
Chr10:112404372 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2174A>C (p.Glu725Ala) single nucleotide variant Cardiovascular phenotype [RCV004032117]|Dilated cardiomyopathy 1DD [RCV001106371] Chr10:110812571 [GRCh38]
Chr10:112572329 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.275C>T (p.Ala92Val) single nucleotide variant Cardiovascular phenotype [RCV002436885]|Dilated cardiomyopathy 1DD [RCV001228378] Chr10:110780884 [GRCh38]
Chr10:112540642 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112404213)_(112771576_?)dup duplication Dilated cardiomyopathy 1DD [RCV003105491]|RASopathy [RCV004579594] Chr10:112404213..112771576 [GRCh37]
Chr10:10q25.2		 pathogenic|uncertain significance
NM_001134363.3(RBM20):c.662C>T (p.Pro221Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003104485] Chr10:110781271 [GRCh38]
Chr10:112541029 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3060G>A (p.Glu1020=) single nucleotide variant Cardiovascular phenotype [RCV004661610]|Dilated cardiomyopathy 1DD [RCV003107211] Chr10:110821679 [GRCh38]
Chr10:112581437 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.192-31G>A single nucleotide variant not provided [RCV001686873] Chr10:110780770 [GRCh38]
Chr10:112540528 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3317-21G>T single nucleotide variant not provided [RCV001534039] Chr10:110823459 [GRCh38]
Chr10:112583217 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-34_3317-22del deletion not provided [RCV001617974] Chr10:110823432..110823444 [GRCh38]
Chr10:112583190..112583202 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.164A>C (p.Gln55Pro) single nucleotide variant Cardiovascular phenotype [RCV004039980]|not provided [RCV001723323] Chr10:110644618 [GRCh38]
Chr10:112404376 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2749G>A (p.Glu917Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001859396]|not provided [RCV001562087] Chr10:110821368 [GRCh38]
Chr10:112581126 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1482C>T (p.Phe494=) single nucleotide variant not provided [RCV001726667]|not specified [RCV001699900] Chr10:110784844 [GRCh38]
Chr10:112544602 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2550+80G>A single nucleotide variant not provided [RCV001557157] Chr10:110813027 [GRCh38]
Chr10:112572785 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1668+108C>T single nucleotide variant not provided [RCV001716224] Chr10:110797756 [GRCh38]
Chr10:112557514 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2656-226C>T single nucleotide variant not provided [RCV001586524] Chr10:110821049 [GRCh38]
Chr10:112580807 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val) single nucleotide variant not provided [RCV001700560] Chr10:110781274 [GRCh38]
Chr10:112541032 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3317-36_3317-22del deletion not provided [RCV001564408] Chr10:110823432..110823446 [GRCh38]
Chr10:112583190..112583204 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.192-165_192-164del deletion not provided [RCV001609246] Chr10:110780621..110780622 [GRCh38]
Chr10:112540379..112540380 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.192-164del deletion not provided [RCV001718527] Chr10:110780621 [GRCh38]
Chr10:112540379 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.135G>C (p.Pro45=) single nucleotide variant Cardiomyopathy [RCV001799006]|not provided [RCV000894784] Chr10:110644589 [GRCh38]
Chr10:112404347 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1236T>C (p.His412=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001483844] Chr10:110781845 [GRCh38]
Chr10:112541603 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.522C>G (p.Pro174=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001432405] Chr10:110781131 [GRCh38]
Chr10:112540889 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1128C>T (p.Ile376=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV000862394]|not provided [RCV004546571] Chr10:110781737 [GRCh38]
Chr10:112541495 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2991G>A (p.Val997=) single nucleotide variant Cardiovascular phenotype [RCV002434105]|Dilated cardiomyopathy 1DD [RCV000869093] Chr10:110821610 [GRCh38]
Chr10:112581368 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity
NM_001134363.3(RBM20):c.1742T>A (p.Ile581Asn) single nucleotide variant Cardiomyopathy [RCV001799133]|Cardiovascular phenotype [RCV004656652]|Dilated cardiomyopathy 1DD [RCV002544356]|not provided [RCV003327522] Chr10:110799860 [GRCh38]
Chr10:112559618 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3545G>C (p.Arg1182Pro) single nucleotide variant Cardiomyopathy [RCV001799137] Chr10:110831154 [GRCh38]
Chr10:112590912 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.4G>T (p.Val2Leu) single nucleotide variant Cardiomyopathy [RCV001799138] Chr10:110644458 [GRCh38]
Chr10:112404216 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3201G>A (p.Lys1067=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001406356] Chr10:110821820 [GRCh38]
Chr10:112581578 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1173G>A (p.Val391=) single nucleotide variant not provided [RCV000944048] Chr10:110781782 [GRCh38]
Chr10:112541540 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3615C>T (p.Thr1205=) single nucleotide variant Cardiovascular phenotype [RCV002453947]|Dilated cardiomyopathy 1DD [RCV000864172]|not provided [RCV001539226] Chr10:110835909 [GRCh38]
Chr10:112595667 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.*2576T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105521] Chr10:110838554 [GRCh38]
Chr10:112598312 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2603G>T (p.Arg868Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001238754] Chr10:110820124 [GRCh38]
Chr10:112579882 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2177G>A (p.Arg726Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001106372] Chr10:110812574 [GRCh38]
Chr10:112572332 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.542G>A (p.Gly181Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001049440] Chr10:110781151 [GRCh38]
Chr10:112540909 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1643A>G (p.Tyr548Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001236151] Chr10:110797623 [GRCh38]
Chr10:112557381 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2024C>T (p.Ser675Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001071747] Chr10:110812421 [GRCh38]
Chr10:112572179 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2528A>G (p.Glu843Gly) single nucleotide variant Cardiomyopathy [RCV003486968]|Cardiovascular phenotype [RCV004032450]|Dilated cardiomyopathy 1DD [RCV001222670] Chr10:110812925 [GRCh38]
Chr10:112572683 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.707C>A (p.Ser236Tyr) single nucleotide variant Cardiovascular phenotype [RCV002366086]|Dilated cardiomyopathy 1DD [RCV001247890] Chr10:110781316 [GRCh38]
Chr10:112541074 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2132G>A (p.Arg711His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001205597]|not provided [RCV003233991] Chr10:110812529 [GRCh38]
Chr10:112572287 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1833G>A (p.Gln611=) single nucleotide variant Cardiovascular phenotype [RCV002411899]|Dilated cardiomyopathy 1DD [RCV001243626] Chr10:110810415 [GRCh38]
Chr10:112570173 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.359del (p.Leu120fs) deletion Cardiovascular phenotype [RCV002339566]|Dilated cardiomyopathy 1DD [RCV001216786] Chr10:110780968 [GRCh38]
Chr10:112540726 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2131C>G (p.Arg711Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001208824] Chr10:110812528 [GRCh38]
Chr10:112572286 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.201G>A (p.Lys67=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103238] Chr10:110780810 [GRCh38]
Chr10:112540568 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*222C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108660] Chr10:110836200 [GRCh38]
Chr10:112595958 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*251A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108661] Chr10:110836229 [GRCh38]
Chr10:112595987 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.487C>T (p.Arg163Trp) single nucleotide variant Cardiovascular phenotype [RCV002327254]|Dilated cardiomyopathy 1DD [RCV001037270] Chr10:110781096 [GRCh38]
Chr10:112540854 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.5T>C (p.Val2Ala) single nucleotide variant Cardiomyopathy [RCV003486956]|Dilated cardiomyopathy 1DD [RCV001037271]|not provided [RCV002293498] Chr10:110644459 [GRCh38]
Chr10:112404217 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2225C>G (p.Ser742Cys) single nucleotide variant Cardiovascular phenotype [RCV002429605]|Dilated cardiomyopathy 1DD [RCV001044964] Chr10:110812622 [GRCh38]
Chr10:112572380 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1232C>T (p.Pro411Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001045372]|not provided [RCV004783886] Chr10:110781841 [GRCh38]
Chr10:112541599 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2343del (p.Arg781fs) deletion Dilated cardiomyopathy 1DD [RCV001217783] Chr10:110812739 [GRCh38]
Chr10:112572497 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.425T>C (p.Val142Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105153] Chr10:110781034 [GRCh38]
Chr10:112540792 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.115C>T (p.Arg39Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001244015] Chr10:110644569 [GRCh38]
Chr10:112404327 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.901del (p.Ala301fs) deletion Dilated cardiomyopathy 1DD [RCV001218286] Chr10:110781509 [GRCh38]
Chr10:112541267 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1338-4C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103328] Chr10:110784337 [GRCh38]
Chr10:112544095 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3003C>G (p.Gly1001=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001459132] Chr10:110821622 [GRCh38]
Chr10:112581380 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2916G>A (p.Gly972=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001427857]|not provided [RCV000934875] Chr10:110821535 [GRCh38]
Chr10:112581293 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3369C>T (p.Tyr1123=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001469324] Chr10:110823532 [GRCh38]
Chr10:112583290 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527+18T>G single nucleotide variant not provided [RCV001529676] Chr10:110784907 [GRCh38]
Chr10:112544665 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2381G>C (p.Arg794Thr) single nucleotide variant not provided [RCV001556967] Chr10:110812778 [GRCh38]
Chr10:112572536 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3317-11A>T single nucleotide variant not provided [RCV001563242] Chr10:110823469 [GRCh38]
Chr10:112583227 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1063C>T (p.Pro355Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495220]|not provided [RCV000994507] Chr10:110781672 [GRCh38]
Chr10:112541430 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1705G>A (p.Ala569Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005139685] Chr10:110799823 [GRCh38]
Chr10:112559581 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1920C>A (p.Ser640Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001049585]|not provided [RCV000994511] Chr10:110812317 [GRCh38]
Chr10:112572075 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+292_3451+293dup duplication not provided [RCV001554954] Chr10:110823893..110823894 [GRCh38]
Chr10:112583651..112583652 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2656-304A>G single nucleotide variant not provided [RCV001561172] Chr10:110820971 [GRCh38]
Chr10:112580729 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) single nucleotide variant Cardiomyopathy [RCV003486999]|Dilated cardiomyopathy 1DD [RCV002496025]|not provided [RCV001700534] Chr10:110821881 [GRCh38]
Chr10:112581639 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1800+336C>A single nucleotide variant not provided [RCV001713567] Chr10:110800254 [GRCh38]
Chr10:112560012 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1527+159G>A single nucleotide variant not provided [RCV001593691] Chr10:110785048 [GRCh38]
Chr10:112544806 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+151A>G single nucleotide variant not provided [RCV001593585] Chr10:110813098 [GRCh38]
Chr10:112572856 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.138G>C (p.Pro46=) single nucleotide variant not provided [RCV001723387] Chr10:110644592 [GRCh38]
Chr10:112404350 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527+36_1527+41del deletion not provided [RCV001639373] Chr10:110784920..110784925 [GRCh38]
Chr10:112544678..112544683 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.186C>A (p.Ile62=) single nucleotide variant not provided [RCV001727938]|not specified [RCV001698858] Chr10:110644640 [GRCh38]
Chr10:112404398 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) single nucleotide variant Cardiovascular phenotype [RCV004656640]|Dilated cardiomyopathy 1DD [RCV001868386]|not provided [RCV001699877] Chr10:110831159 [GRCh38]
Chr10:112590917 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2146C>T (p.Arg716Trp) single nucleotide variant Cardiovascular phenotype [RCV004986763]|Dilated cardiomyopathy 1DD [RCV001048794] Chr10:110812543 [GRCh38]
Chr10:112572301 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.150_153del (p.Pro52fs) deletion Primary dilated cardiomyopathy [RCV001093563] Chr10:110644604..110644607 [GRCh38]
Chr10:112404362..112404365 [GRCh37]
Chr10:10q25.2		 pathogenic|uncertain significance
NM_001134363.3(RBM20):c.-31T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108413] Chr10:110644424 [GRCh38]
Chr10:112404182 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3317-10T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105335] Chr10:110823470 [GRCh38]
Chr10:112583228 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*800G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105424] Chr10:110836778 [GRCh38]
Chr10:112596536 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*941C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105425] Chr10:110836919 [GRCh38]
Chr10:112596677 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.776G>T (p.Gly259Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001106280]|Long QT syndrome [RCV003318391] Chr10:110781385 [GRCh38]
Chr10:112541143 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1101T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001106569] Chr10:110837079 [GRCh38]
Chr10:112596837 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3544C>T (p.Arg1182Cys) single nucleotide variant Cardiovascular phenotype [RCV002451282]|Dilated cardiomyopathy 1DD [RCV001065840] Chr10:110831153 [GRCh38]
Chr10:112590911 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.*1452T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001106571] Chr10:110837430 [GRCh38]
Chr10:112597188 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2276A>G (p.Tyr759Cys) single nucleotide variant Cardiovascular phenotype [RCV002445248]|Dilated cardiomyopathy 1DD [RCV001047320] Chr10:110812673 [GRCh38]
Chr10:112572431 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3266C>A (p.Pro1089His) single nucleotide variant Cardiovascular phenotype [RCV002320267]|Dilated cardiomyopathy 1DD [RCV001046309] Chr10:110821885 [GRCh38]
Chr10:112581643 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.917G>C (p.Ser306Thr) single nucleotide variant Cardiomyopathy [RCV001170720] Chr10:110781526 [GRCh38]
Chr10:112541284 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2001T>C (p.Ala667=) single nucleotide variant Cardiovascular phenotype [RCV003293985]|Dilated cardiomyopathy 1DD [RCV005094040]|not specified [RCV001195207] Chr10:110812398 [GRCh38]
Chr10:112572156 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.*2296A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103585] Chr10:110838274 [GRCh38]
Chr10:112598032 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3317-35_3317-22del deletion not provided [RCV001651799] Chr10:110823432..110823445 [GRCh38]
Chr10:112583190..112583203 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1528-1G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001868391]|not provided [RCV001700666] Chr10:110797507 [GRCh38]
Chr10:112557265 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+277del deletion not provided [RCV001680428] Chr10:110823885 [GRCh38]
Chr10:112583643 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1525A>G (p.Thr509Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001049338] Chr10:110784887 [GRCh38]
Chr10:112544645 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1528-211AT[8] microsatellite not provided [RCV001684536] Chr10:110797296..110797297 [GRCh38]
Chr10:112557054..112557055 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1975C>T (p.His659Tyr) single nucleotide variant not provided [RCV001699933] Chr10:110812372 [GRCh38]
Chr10:112572130 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.11:g.110644335C>T single nucleotide variant not provided [RCV001680240] Chr10:110644335 [GRCh38]
Chr10:112404093 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1904C>A (p.Ser635Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002555933] Chr10:110812301 [GRCh38]
Chr10:112572059 [GRCh37]
Chr10:10q25.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3205del (p.Arg1069fs) deletion Cardiovascular phenotype [RCV004039472]|Dilated cardiomyopathy 1DD [RCV003495247]|not provided [RCV001583328] Chr10:110821824 [GRCh38]
Chr10:112581582 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+14A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002077145]|not provided [RCV001703340]|not specified [RCV001699894] Chr10:110823628 [GRCh38]
Chr10:112583386 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.192-300G>A single nucleotide variant not provided [RCV001583625] Chr10:110780501 [GRCh38]
Chr10:112540259 [GRCh37]
Chr10:10q25.2		 likely benign
NC_000010.11:g.(?_110820062)_(110835988_?)del deletion Dilated cardiomyopathy 1DD [RCV001031625] Chr10:112579820..112595746 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3242C>T (p.Pro1081Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495333]|not specified [RCV003331794] Chr10:110821861 [GRCh38]
Chr10:112581619 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2331T>G (p.Asp777Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001233010] Chr10:110812728 [GRCh38]
Chr10:112572486 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3147del (p.Lys1050fs) deletion Dilated cardiomyopathy 1DD [RCV001195647] Chr10:110821766 [GRCh38]
Chr10:112581524 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.533G>A (p.Arg178Gln) single nucleotide variant Cardiovascular phenotype [RCV004659431]|Dilated cardiomyopathy 1DD [RCV001235763]|not specified [RCV001527040] Chr10:110781142 [GRCh38]
Chr10:112540900 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1309G>A (p.Ala437Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001056233] Chr10:110783399 [GRCh38]
Chr10:112543157 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.83G>A (p.Gly28Asp) single nucleotide variant Cardiovascular phenotype [RCV003163565]|Dilated cardiomyopathy 1DD [RCV001206675] Chr10:110644537 [GRCh38]
Chr10:112404295 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1813G>A (p.Ala605Thr) single nucleotide variant Cardiovascular phenotype [RCV003294013]|Dilated cardiomyopathy 1DD [RCV001208837] Chr10:110810395 [GRCh38]
Chr10:112570153 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.132_155dup (p.Pro47_Pro54dup) duplication Dilated cardiomyopathy 1DD [RCV001237183] Chr10:110644582..110644583 [GRCh38]
Chr10:112404340..112404341 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3277G>A (p.Asp1093Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001230197] Chr10:110821896 [GRCh38]
Chr10:112581654 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.418C>A (p.Pro140Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001052869]|not provided [RCV003229014] Chr10:110781027 [GRCh38]
Chr10:112540785 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3278A>T (p.Asp1093Val) single nucleotide variant Cardiovascular phenotype [RCV002447182]|Dilated cardiomyopathy 1DD [RCV001236853]|not provided [RCV001773538] Chr10:110821897 [GRCh38]
Chr10:112581655 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.3267dup (p.Ile1090fs) duplication Cardiomyopathy [RCV001799034]|Dilated cardiomyopathy 1DD [RCV001050449]|not provided [RCV001554955] Chr10:110821879..110821880 [GRCh38]
Chr10:112581637..112581638 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3240C>A (p.Ser1080Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001042676] Chr10:110821859 [GRCh38]
Chr10:112581617 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1850G>A (p.Arg617Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001061162] Chr10:110810432 [GRCh38]
Chr10:112570190 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1079C>T (p.Thr360Ile) single nucleotide variant Cardiovascular phenotype [RCV002418503]|Dilated cardiomyopathy 1DD [RCV001057489] Chr10:110781688 [GRCh38]
Chr10:112541446 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1206dup (p.His403fs) duplication Dilated cardiomyopathy 1DD [RCV001208495] Chr10:110781812..110781813 [GRCh38]
Chr10:112541570..112541571 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.349G>A (p.Ala117Thr) single nucleotide variant Cardiovascular phenotype [RCV003307856]|Dilated cardiomyopathy 1DD [RCV001050982] Chr10:110780958 [GRCh38]
Chr10:112540716 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2011A>G (p.Asn671Asp) single nucleotide variant Cardiovascular phenotype [RCV002418754]|Dilated cardiomyopathy 1DD [RCV001220066]|not provided [RCV002281171] Chr10:110812408 [GRCh38]
Chr10:112572166 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2575A>G (p.Met859Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001039679] Chr10:110820096 [GRCh38]
Chr10:112579854 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*552G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103505] Chr10:110836530 [GRCh38]
Chr10:112596288 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.321G>C (p.Gln107His) single nucleotide variant Cardiovascular phenotype [RCV002320247]|Dilated cardiomyopathy 1DD [RCV001040075] Chr10:110780930 [GRCh38]
Chr10:112540688 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.116G>A (p.Arg39Gln) single nucleotide variant Cardiovascular phenotype [RCV003294039]|Dilated cardiomyopathy 1DD [RCV001216067] Chr10:110644570 [GRCh38]
Chr10:112404328 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1903T>C (p.Ser635Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001218008] Chr10:110812300 [GRCh38]
Chr10:112572058 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2764G>T (p.Val922Leu) single nucleotide variant Cardiovascular phenotype [RCV002436633]|Dilated cardiomyopathy 1DD [RCV001059310] Chr10:110821383 [GRCh38]
Chr10:112581141 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3512C>G (p.Thr1171Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001059311] Chr10:110831121 [GRCh38]
Chr10:112590879 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.968A>G (p.His323Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001202207]|not provided [RCV003229022] Chr10:110781577 [GRCh38]
Chr10:112541335 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.27G>C (p.Gln9His) single nucleotide variant Cardiovascular phenotype [RCV002436897]|Dilated cardiomyopathy 1DD [RCV001230637] Chr10:110644481 [GRCh38]
Chr10:112404239 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2930G>A (p.Ser977Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001041063] Chr10:110821549 [GRCh38]
Chr10:112581307 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*2749C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001105523] Chr10:110838727 [GRCh38]
Chr10:112598485 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.408A>G (p.Gln136=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001231882] Chr10:110781017 [GRCh38]
Chr10:112540775 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3584C>T (p.Ser1195Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001873655]|not specified [RCV001174900] Chr10:110835878 [GRCh38]
Chr10:112595636 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1166G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001106570] Chr10:110837144 [GRCh38]
Chr10:112596902 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*3004T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001106676] Chr10:110838982 [GRCh38]
Chr10:112598740 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2853C>T (p.Thr951=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103412] Chr10:110821472 [GRCh38]
Chr10:112581230 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2476A>C (p.Asn826His) single nucleotide variant Cardiovascular phenotype [RCV004671194]|Dilated cardiomyopathy 1DD [RCV001050917] Chr10:110812873 [GRCh38]
Chr10:112572631 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3262C>T (p.Pro1088Ser) single nucleotide variant Cardiomyopathy [RCV001799054]|Dilated cardiomyopathy 1DD [RCV001230438] Chr10:110821881 [GRCh38]
Chr10:112581639 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.2428A>G (p.Lys810Glu) single nucleotide variant Cardiovascular phenotype [RCV004659382]|Dilated cardiomyopathy 1DD [RCV001202488] Chr10:110812825 [GRCh38]
Chr10:112572583 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3097G>A (p.Glu1033Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001051592] Chr10:110821716 [GRCh38]
Chr10:112581474 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*1863A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108747] Chr10:110837841 [GRCh38]
Chr10:112597599 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*3256C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108835] Chr10:110839234 [GRCh38]
Chr10:112598992 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.*3427G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001108836] Chr10:110839405 [GRCh38]
Chr10:112599163 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.134C>T (p.Pro45Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001047538] Chr10:110644588 [GRCh38]
Chr10:112404346 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.*1919A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV001103584] Chr10:110837897 [GRCh38]
Chr10:112597655 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+3A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001231658] Chr10:110823617 [GRCh38]
Chr10:112583375 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1345A>G (p.Ile449Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001232196] Chr10:110784348 [GRCh38]
Chr10:112544106 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.950G>A (p.Ser317Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001228569] Chr10:110781559 [GRCh38]
Chr10:112541317 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1174C>T (p.Arg392Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001063654] Chr10:110781783 [GRCh38]
Chr10:112541541 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2281C>T (p.Arg761Trp) single nucleotide variant Cardiovascular phenotype [RCV003380833]|Dilated cardiomyopathy 1DD [RCV001063810] Chr10:110812678 [GRCh38]
Chr10:112572436 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.215A>T (p.Asn72Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001214234]|not provided [RCV003442775] Chr10:110780824 [GRCh38]
Chr10:112540582 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2693A>G (p.Glu898Gly) single nucleotide variant Cardiomyopathy [RCV001170928]|Dilated cardiomyopathy 1DD [RCV005093719] Chr10:110821312 [GRCh38]
Chr10:112581070 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112404193)_(112583392_?)del deletion Dilated cardiomyopathy 1DD [RCV001304270] Chr10:112404193..112583392 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2205G>A (p.Glu735=) single nucleotide variant Cardiovascular phenotype [RCV004987011]|Primary dilated cardiomyopathy [RCV001257943] Chr10:110812602 [GRCh38]
Chr10:112572360 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1682T>C (p.Met561Thr) single nucleotide variant Cardiovascular phenotype [RCV003294260]|Dilated cardiomyopathy 1DD [RCV001313879] Chr10:110799800 [GRCh38]
Chr10:112559558 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2817C>T (p.Asp939=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001401195]|not specified [RCV001256959] Chr10:110821436 [GRCh38]
Chr10:112581194 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.318_326del (p.Gln107_Ala109del) deletion Dilated cardiomyopathy 1DD [RCV001313524] Chr10:110780925..110780933 [GRCh38]
Chr10:112540683..112540691 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2350_2351delinsGT (p.Arg784Val) indel Dilated cardiomyopathy 1DD [RCV001295137] Chr10:110812747..110812748 [GRCh38]
Chr10:112572505..112572506 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.860C>T (p.Ser287Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001349448] Chr10:110781469 [GRCh38]
Chr10:112541227 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3489C>A (p.Cys1163Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001317145] Chr10:110831098 [GRCh38]
Chr10:112590856 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2291C>A (p.Pro764His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001295247]|not provided [RCV001751558] Chr10:110812688 [GRCh38]
Chr10:112572446 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3586C>T (p.Gln1196Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001309921] Chr10:110835880 [GRCh38]
Chr10:112595638 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2237C>T (p.Pro746Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001339438] Chr10:110812634 [GRCh38]
Chr10:112572392 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2338G>T (p.Gly780Trp) single nucleotide variant Cardiovascular phenotype [RCV002447339]|Dilated cardiomyopathy 1DD [RCV001316699] Chr10:110812735 [GRCh38]
Chr10:112572493 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.132_149dup (p.44PPPPPQ[3]) duplication Cardiovascular phenotype [RCV002380004]|Dilated cardiomyopathy 1DD [RCV001298959]|not provided [RCV001751572] Chr10:110644580..110644581 [GRCh38]
Chr10:112404338..112404339 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.871C>T (p.His291Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001308583] Chr10:110781480 [GRCh38]
Chr10:112541238 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.118G>C (p.Gly40Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001350953] Chr10:110644572 [GRCh38]
Chr10:112404330 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2382A>C (p.Arg794Ser) single nucleotide variant Cardiovascular phenotype [RCV002456422]|Dilated cardiomyopathy 1DD [RCV001317231]|Primary dilated cardiomyopathy [RCV001535678] Chr10:110812779 [GRCh38]
Chr10:112572537 [GRCh37]
Chr10:10q25.2		 uncertain significance|not provided
NM_001134363.3(RBM20):c.1949C>T (p.Pro650Leu) single nucleotide variant Cardiovascular phenotype [RCV004987032]|Dilated cardiomyopathy 1DD [RCV001296713]|not provided [RCV003320821] Chr10:110812346 [GRCh38]
Chr10:112572104 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1384G>A (p.Ala462Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001296882] Chr10:110784387 [GRCh38]
Chr10:112544145 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2063G>A (p.Arg688Gln) single nucleotide variant Cardiovascular phenotype [RCV002418905]|Dilated cardiomyopathy 1DD [RCV001299884]|not provided [RCV004727097] Chr10:110812460 [GRCh38]
Chr10:112572218 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1894A>G (p.Arg632Gly) single nucleotide variant Cardiovascular phenotype [RCV002411967]|Dilated cardiomyopathy 1DD [RCV001304313] Chr10:110812291 [GRCh38]
Chr10:112572049 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.858C>A (p.Asn286Lys) single nucleotide variant Cardiovascular phenotype [RCV002413836]|Dilated cardiomyopathy 1DD [RCV001352401]|not provided [RCV001773709] Chr10:110781467 [GRCh38]
Chr10:112541225 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3160G>C (p.Glu1054Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001325955] Chr10:110821779 [GRCh38]
Chr10:112581537 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1175G>A (p.Arg392Gln) single nucleotide variant Cardiovascular phenotype [RCV004987034]|Dilated cardiomyopathy 1DD [RCV001296874] Chr10:110781784 [GRCh38]
Chr10:112541542 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1823C>T (p.Ala608Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001295130] Chr10:110810405 [GRCh38]
Chr10:112570163 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2477A>G (p.Asn826Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001319250] Chr10:110812874 [GRCh38]
Chr10:112572632 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1027C>G (p.His343Asp) single nucleotide variant Cardiovascular phenotype [RCV004036330]|Dilated cardiomyopathy 1DD [RCV001304891] Chr10:110781636 [GRCh38]
Chr10:112541394 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.3489C>T (p.Cys1163=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001361314]|not provided [RCV001806145] Chr10:110831098 [GRCh38]
Chr10:112590856 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2988C>A (p.Asp996Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001315811] Chr10:110821607 [GRCh38]
Chr10:112581365 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3169C>G (p.Arg1057Gly) single nucleotide variant Cardiovascular phenotype [RCV002322206]|Dilated cardiomyopathy 1DD [RCV001304788]|not provided [RCV005094370] Chr10:110821788 [GRCh38]
Chr10:112581546 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2975C>G (p.Pro992Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001361495] Chr10:110821594 [GRCh38]
Chr10:112581352 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.658G>A (p.Gly220Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001363201] Chr10:110781267 [GRCh38]
Chr10:112541025 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1242T>C (p.Cys414=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001372637] Chr10:110781851 [GRCh38]
Chr10:112541609 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1351T>C (p.Cys451Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001374243] Chr10:110784354 [GRCh38]
Chr10:112544112 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2730_2731inv (p.Val911Leu) inversion Dilated cardiomyopathy 1DD [RCV001368602] Chr10:110821349..110821350 [GRCh38]
Chr10:112581107..112581108 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2953C>T (p.Pro985Ser) single nucleotide variant Cardiomyopathy [RCV001799135]|Cardiovascular phenotype [RCV004988749]|Dilated cardiomyopathy 1DD [RCV002074135]|not provided [RCV004774464] Chr10:110821572 [GRCh38]
Chr10:112581330 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.399C>T (p.Leu133=) single nucleotide variant Cardiovascular phenotype [RCV003298715]|Dilated cardiomyopathy 1DD [RCV001422445] Chr10:110781008 [GRCh38]
Chr10:112540766 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1745A>G (p.Asn582Ser) single nucleotide variant Cardiomyopathy [RCV001799134]|Dilated cardiomyopathy 1DD [RCV001868904] Chr10:110799863 [GRCh38]
Chr10:112559621 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.688G>T (p.Glu230Ter) single nucleotide variant Cardiomyopathy [RCV001799139] Chr10:110781297 [GRCh38]
Chr10:112541055 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1180C>T (p.Leu394=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001415252] Chr10:110781789 [GRCh38]
Chr10:112541547 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1164G>C (p.Leu388Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001371342] Chr10:110781773 [GRCh38]
Chr10:112541531 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2086A>G (p.Asn696Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001362510] Chr10:110812483 [GRCh38]
Chr10:112572241 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2183A>G (p.Glu728Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001323813] Chr10:110812580 [GRCh38]
Chr10:112572338 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.707C>G (p.Ser236Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001362552] Chr10:110781316 [GRCh38]
Chr10:112541074 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1558G>A (p.Val520Met) single nucleotide variant Cardiovascular phenotype [RCV002402867]|Dilated cardiomyopathy 1DD [RCV001308627] Chr10:110797538 [GRCh38]
Chr10:112557296 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2019G>T (p.Arg673=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001320079] Chr10:110812416 [GRCh38]
Chr10:112572174 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3669A>T (p.Glu1223Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001364915] Chr10:110835963 [GRCh38]
Chr10:112595721 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.705C>A (p.Ser235Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001349008] Chr10:110781314 [GRCh38]
Chr10:112541072 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2587C>T (p.Pro863Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001337818] Chr10:110820108 [GRCh38]
Chr10:112579866 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser) single nucleotide variant Cardiovascular phenotype [RCV003382536]|Dilated cardiomyopathy 1DD [RCV001340695]|not provided [RCV001729852] Chr10:110812669 [GRCh38]
Chr10:112572427 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1337+5G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001307529] Chr10:110783432 [GRCh38]
Chr10:112543190 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1396A>G (p.Ser466Gly) single nucleotide variant Cardiovascular phenotype [RCV002393735]|Dilated cardiomyopathy 1DD [RCV001308735] Chr10:110784399 [GRCh38]
Chr10:112544157 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.25C>T (p.Gln9Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001318711] Chr10:110644479 [GRCh38]
Chr10:112404237 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1868G>A (p.Arg623Gln) single nucleotide variant Cardiovascular phenotype [RCV002411993]|Dilated cardiomyopathy 1DD [RCV001309735]|not provided [RCV001529524] Chr10:110810450 [GRCh38]
Chr10:112570208 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3047G>A (p.Gly1016Asp) single nucleotide variant Cardiovascular phenotype [RCV003298614]|Dilated cardiomyopathy 1DD [RCV001371857]|not provided [RCV004692666] Chr10:110821666 [GRCh38]
Chr10:112581424 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.676G>A (p.Ala226Thr) single nucleotide variant Cardiovascular phenotype [RCV004988590]|Dilated cardiomyopathy 1DD [RCV001359380]|not provided [RCV004590349]|not specified [RCV003399158] Chr10:110781285 [GRCh38]
Chr10:112541043 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3661C>T (p.Arg1221Cys) single nucleotide variant Cardiovascular phenotype [RCV004034234]|Dilated cardiomyopathy 1DD [RCV001871766] Chr10:110835955 [GRCh38]
Chr10:112595713 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1448G>A (p.Gly483Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001365281] Chr10:110784810 [GRCh38]
Chr10:112544568 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3217G>A (p.Glu1073Lys) single nucleotide variant Cardiovascular phenotype [RCV002322243]|Dilated cardiomyopathy 1DD [RCV001323173]|not provided [RCV004692499] Chr10:110821836 [GRCh38]
Chr10:112581594 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1944C>A (p.His648Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001347026] Chr10:110812341 [GRCh38]
Chr10:112572099 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2280_2282dup (p.Arg761dup) duplication Dilated cardiomyopathy 1DD [RCV001344071] Chr10:110812676..110812677 [GRCh38]
Chr10:112572434..112572435 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3124A>G (p.Thr1042Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001323214] Chr10:110821743 [GRCh38]
Chr10:112581501 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3332T>C (p.Val1111Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001372267] Chr10:110823495 [GRCh38]
Chr10:112583253 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1934C>T (p.Pro645Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001320591] Chr10:110812331 [GRCh38]
Chr10:112572089 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.89_90delinsCA (p.Arg30Pro) indel Dilated cardiomyopathy 1DD [RCV001325755] Chr10:110644543..110644544 [GRCh38]
Chr10:112404301..112404302 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.303C>A (p.His101Gln) single nucleotide variant Cardiovascular phenotype [RCV002447466]|Dilated cardiomyopathy 1DD [RCV001363401] Chr10:110780912 [GRCh38]
Chr10:112540670 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3597G>C (p.Glu1199Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001322332] Chr10:110835891 [GRCh38]
Chr10:112595649 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1329_1331del (p.Ser444del) deletion Dilated cardiomyopathy 1DD [RCV001323379] Chr10:110783419..110783421 [GRCh38]
Chr10:112543177..112543179 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2289G>C (p.Glu763Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001298506] Chr10:110812686 [GRCh38]
Chr10:112572444 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1896G>C (p.Arg632Ser) single nucleotide variant Cardiovascular phenotype [RCV002412056]|Dilated cardiomyopathy 1DD [RCV001338311] Chr10:110812293 [GRCh38]
Chr10:112572051 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1775A>G (p.Lys592Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001298578] Chr10:110799893 [GRCh38]
Chr10:112559651 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3557A>G (p.His1186Arg) single nucleotide variant Cardiovascular phenotype [RCV002456421]|Dilated cardiomyopathy 1DD [RCV001317223]|not provided [RCV004720851] Chr10:110831166 [GRCh38]
Chr10:112590924 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1851G>C (p.Arg617Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001299522] Chr10:110810433 [GRCh38]
Chr10:112570191 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2539G>A (p.Ala847Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001297663] Chr10:110812936 [GRCh38]
Chr10:112572694 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2741T>A (p.Val914Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001308168] Chr10:110821360 [GRCh38]
Chr10:112581118 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2071G>T (p.Ala691Ser) single nucleotide variant Cardiomyopathy [RCV001799069]|Dilated cardiomyopathy 1DD [RCV001348009] Chr10:110812468 [GRCh38]
Chr10:112572226 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2351G>T (p.Arg784Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001373184] Chr10:110812748 [GRCh38]
Chr10:112572506 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2132G>C (p.Arg711Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002001535] Chr10:110812529 [GRCh38]
Chr10:112572287 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2294A>C (p.Lys765Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001359904] Chr10:110812691 [GRCh38]
Chr10:112572449 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2107A>G (p.Arg703Gly) single nucleotide variant Cardiovascular phenotype [RCV002420759]|Dilated cardiomyopathy 1DD [RCV001350646] Chr10:110812504 [GRCh38]
Chr10:112572262 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1078A>G (p.Thr360Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001297743] Chr10:110781687 [GRCh38]
Chr10:112541445 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1189C>T (p.His397Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001362353] Chr10:110781798 [GRCh38]
Chr10:112541556 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3053_3056del (p.Ser1018fs) deletion Cardiovascular phenotype [RCV004035937]|Dilated cardiomyopathy 1DD [RCV001340382] Chr10:110821670..110821673 [GRCh38]
Chr10:112581428..112581431 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2360A>G (p.Glu787Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001309316] Chr10:110812757 [GRCh38]
Chr10:112572515 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3125C>T (p.Thr1042Ile) single nucleotide variant Cardiovascular phenotype [RCV004988565]|Dilated cardiomyopathy 1DD [RCV001341755] Chr10:110821744 [GRCh38]
Chr10:112581502 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2239C>T (p.His747Tyr) single nucleotide variant Cardiovascular phenotype [RCV002431886]|Dilated cardiomyopathy 1DD [RCV001313897] Chr10:110812636 [GRCh38]
Chr10:112572394 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.409C>G (p.Leu137Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001339885] Chr10:110781018 [GRCh38]
Chr10:112540776 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1921C>T (p.Arg641Trp) single nucleotide variant Cardiovascular phenotype [RCV003346512]|Dilated cardiomyopathy 1DD [RCV001359888]|not provided [RCV004728668] Chr10:110812318 [GRCh38]
Chr10:112572076 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3659del (p.Pro1220fs) deletion Dilated cardiomyopathy 1DD [RCV001324773] Chr10:110835952 [GRCh38]
Chr10:112595710 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2814A>G (p.Lys938=) single nucleotide variant Cardiovascular phenotype [RCV004037454]|Dilated cardiomyopathy 1DD [RCV001369991] Chr10:110821433 [GRCh38]
Chr10:112581191 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3262C>A (p.Pro1088Thr) single nucleotide variant Cardiovascular phenotype [RCV004656506]|Dilated cardiomyopathy 1DD [RCV001308983]|not provided [RCV001760371] Chr10:110821881 [GRCh38]
Chr10:112581639 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2749G>C (p.Glu917Gln) single nucleotide variant Cardiovascular phenotype [RCV003382560]|Dilated cardiomyopathy 1DD [RCV001366499] Chr10:110821368 [GRCh38]
Chr10:112581126 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1349G>A (p.Arg450Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001296085] Chr10:110784352 [GRCh38]
Chr10:112544110 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1454C>T (p.Ser485Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001360327] Chr10:110784816 [GRCh38]
Chr10:112544574 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2087A>G (p.Asn696Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001865911]|not provided [RCV004692685]|not specified [RCV001420944] Chr10:110812484 [GRCh38]
Chr10:112572242 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3128T>C (p.Val1043Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001371343] Chr10:110821747 [GRCh38]
Chr10:112581505 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2893G>A (p.Gly965Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001871977]|Primary dilated cardiomyopathy [RCV001375654] Chr10:110821512 [GRCh38]
Chr10:112581270 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1092C>T (p.Phe364=) single nucleotide variant Cardiovascular phenotype [RCV004038092]|Dilated cardiomyopathy 1DD [RCV001412612] Chr10:110781701 [GRCh38]
Chr10:112541459 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.883G>A (p.Gly295Arg) single nucleotide variant Cardiovascular phenotype [RCV004987064]|Dilated cardiomyopathy 1DD [RCV001316566] Chr10:110781492 [GRCh38]
Chr10:112541250 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.519C>T (p.Pro173=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001421293] Chr10:110781128 [GRCh38]
Chr10:112540886 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1245C>G (p.Ser415Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001341250] Chr10:110781854 [GRCh38]
Chr10:112541612 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.43G>C (p.Gly15Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001337180] Chr10:110644497 [GRCh38]
Chr10:112404255 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.2201G>C (p.Arg734Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001327690] Chr10:110812598 [GRCh38]
Chr10:112572356 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2031G>A (p.Glu677=) single nucleotide variant Cardiovascular phenotype [RCV002420932]|Dilated cardiomyopathy 1DD [RCV001414111] Chr10:110812428 [GRCh38]
Chr10:112572186 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3512C>A (p.Thr1171Lys) single nucleotide variant Cardiovascular phenotype [RCV002456458]|Dilated cardiomyopathy 1DD [RCV001326624] Chr10:110831121 [GRCh38]
Chr10:112590879 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112579820)_(112595746_?)del deletion Dilated cardiomyopathy 1DD [RCV001313637] Chr10:112579820..112595746 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.145C>G (p.Gln49Glu) single nucleotide variant Cardiovascular phenotype [RCV002393693]|Dilated cardiomyopathy 1DD [RCV001294585] Chr10:110644599 [GRCh38]
Chr10:112404357 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1915G>A (p.Val639Met) single nucleotide variant Cardiovascular phenotype [RCV002412022]|Dilated cardiomyopathy 1DD [RCV001317699] Chr10:110812312 [GRCh38]
Chr10:112572070 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2337C>T (p.Pro779=) single nucleotide variant Cardiovascular phenotype [RCV004037828]|Dilated cardiomyopathy 1DD [RCV001401994]|not provided [RCV001727850]|not specified [RCV001699784] Chr10:110812734 [GRCh38]
Chr10:112572492 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2745G>A (p.Gly915=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001473082] Chr10:110821364 [GRCh38]
Chr10:112581122 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.48G>C (p.Pro16=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001479194] Chr10:110644502 [GRCh38]
Chr10:112404260 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2802del (p.Ile935fs) deletion Dilated cardiomyopathy 1DD [RCV001865938]|not provided [RCV001508303] Chr10:110821419 [GRCh38]
Chr10:112581177 [GRCh37]
Chr10:10q25.2		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3096G>A (p.Val1032=) single nucleotide variant Cardiovascular phenotype [RCV002322443]|Dilated cardiomyopathy 1DD [RCV001424712] Chr10:110821715 [GRCh38]
Chr10:112581473 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-9G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001455037]|not provided [RCV001556608] Chr10:110823471 [GRCh38]
Chr10:112583229 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2691G>A (p.Gly897=) single nucleotide variant Cardiovascular phenotype [RCV002456827]|Dilated cardiomyopathy 1DD [RCV001475891] Chr10:110821310 [GRCh38]
Chr10:112581068 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1326C>G (p.Val442=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001483007] Chr10:110783416 [GRCh38]
Chr10:112543174 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2046C>T (p.Ala682=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001492720] Chr10:110812443 [GRCh38]
Chr10:112572201 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1880+7C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001486832] Chr10:110810469 [GRCh38]
Chr10:112570227 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1521G>A (p.Gly507=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001426305] Chr10:110784883 [GRCh38]
Chr10:112544641 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1920C>T (p.Ser640=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001491707] Chr10:110812317 [GRCh38]
Chr10:112572075 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.702C>T (p.Ala234=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001487255] Chr10:110781311 [GRCh38]
Chr10:112541069 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527+10G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001491785] Chr10:110784899 [GRCh38]
Chr10:112544657 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1656G>A (p.Lys552=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001453788] Chr10:110797636 [GRCh38]
Chr10:112557394 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1806C>T (p.Pro602=) single nucleotide variant Cardiovascular phenotype [RCV002414108]|Dilated cardiomyopathy 1DD [RCV001461236]|not provided [RCV001685360] Chr10:110810388 [GRCh38]
Chr10:112570146 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1528-4T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001399190] Chr10:110797504 [GRCh38]
Chr10:112557262 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1429+154C>T single nucleotide variant not provided [RCV001541292] Chr10:110784586 [GRCh38]
Chr10:112544344 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3336A>G (p.Glu1112=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001430628] Chr10:110823499 [GRCh38]
Chr10:112583257 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.219A>G (p.Pro73=) single nucleotide variant Cardiovascular phenotype [RCV002432125]|Dilated cardiomyopathy 1DD [RCV001407431]|not specified [RCV003331151] Chr10:110780828 [GRCh38]
Chr10:112540586 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.154C>A (p.Pro52Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002488194]|Primary dilated cardiomyopathy [RCV001376076] Chr10:110644608 [GRCh38]
Chr10:112404366 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1793A>C (p.Gln598Pro) single nucleotide variant Primary dilated cardiomyopathy [RCV001376077] Chr10:110799911 [GRCh38]
Chr10:112559669 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.580A>G (p.Met194Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002550226]|Primary dilated cardiomyopathy [RCV001376078] Chr10:110781189 [GRCh38]
Chr10:112540947 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1953C>T (p.Ser651=) single nucleotide variant Cardiovascular phenotype [RCV003160752]|Dilated cardiomyopathy 1DD [RCV001437761] Chr10:110812350 [GRCh38]
Chr10:112572108 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3000T>C (p.Pro1000=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001444940] Chr10:110821619 [GRCh38]
Chr10:112581377 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.327T>G (p.Ala109=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001447438] Chr10:110780936 [GRCh38]
Chr10:112540694 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2022C>T (p.Asp674=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001418782] Chr10:110812419 [GRCh38]
Chr10:112572177 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1429+9G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001410904] Chr10:110784441 [GRCh38]
Chr10:112544199 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3330C>T (p.Tyr1110=) single nucleotide variant Cardiovascular phenotype [RCV003160700]|Dilated cardiomyopathy 1DD [RCV001423753]|not provided [RCV001724319]|not specified [RCV001700745] Chr10:110823493 [GRCh38]
Chr10:112583251 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3417A>G (p.Pro1139=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001437784] Chr10:110823580 [GRCh38]
Chr10:112583338 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3462C>T (p.Phe1154=) single nucleotide variant Cardiovascular phenotype [RCV003160772]|Dilated cardiomyopathy 1DD [RCV001440416]|RBM20-related disorder [RCV003930929] Chr10:110831071 [GRCh38]
Chr10:112590829 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1386T>C (p.Ala462=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001403998] Chr10:110784389 [GRCh38]
Chr10:112544147 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.435C>A (p.Gly145=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001419467] Chr10:110781044 [GRCh38]
Chr10:112540802 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1593T>A (p.Thr531=) single nucleotide variant Cardiovascular phenotype [RCV002404992]|Dilated cardiomyopathy 1DD [RCV001424419] Chr10:110797573 [GRCh38]
Chr10:112557331 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.651C>G (p.Gly217=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001457476] Chr10:110781260 [GRCh38]
Chr10:112541018 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1210G>A (p.Gly404Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001464352] Chr10:110781819 [GRCh38]
Chr10:112541577 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2286A>G (p.Lys762=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001495603] Chr10:110812683 [GRCh38]
Chr10:112572441 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.114G>T (p.Pro38=) single nucleotide variant Cardiovascular phenotype [RCV002458494]|Dilated cardiomyopathy 1DD [RCV001510004]|not provided [RCV001729929] Chr10:110644568 [GRCh38]
Chr10:112404326 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3317-28_3317-22del deletion not provided [RCV001684091] Chr10:110823432..110823438 [GRCh38]
Chr10:112583190..112583196 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3555C>A (p.Val1185=) single nucleotide variant Cardiovascular phenotype [RCV004038683]|Dilated cardiomyopathy 1DD [RCV001469405] Chr10:110831164 [GRCh38]
Chr10:112590922 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3204C>G (p.Thr1068=) single nucleotide variant Cardiovascular phenotype [RCV002322496]|Dilated cardiomyopathy 1DD [RCV001455443] Chr10:110821823 [GRCh38]
Chr10:112581581 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-303G>A single nucleotide variant not provided [RCV001592522] Chr10:110811975 [GRCh38]
Chr10:112571733 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1801-146G>T single nucleotide variant not provided [RCV001591478] Chr10:110810237 [GRCh38]
Chr10:112569995 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2523A>G (p.Arg841=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001453030] Chr10:110812920 [GRCh38]
Chr10:112572678 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-30_3317-22del deletion not provided [RCV001690397] Chr10:110823432..110823440 [GRCh38]
Chr10:112583190..112583198 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3627T>C (p.Asp1209=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001454265] Chr10:110835921 [GRCh38]
Chr10:112595679 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2232C>T (p.Asn744=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001472782]|not provided [RCV001615169] Chr10:110812629 [GRCh38]
Chr10:112572387 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1338-234G>A single nucleotide variant not provided [RCV001537542] Chr10:110784107 [GRCh38]
Chr10:112543865 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1212T>G (p.Gly404=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001464041] Chr10:110781821 [GRCh38]
Chr10:112541579 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2418G>T (p.Gly806=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001479938] Chr10:110812815 [GRCh38]
Chr10:112572573 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3384G>A (p.Leu1128=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001399808] Chr10:110823547 [GRCh38]
Chr10:112583305 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1200C>T (p.Asn400=) single nucleotide variant Cardiovascular phenotype [RCV002343676]|Dilated cardiomyopathy 1DD [RCV001497951]|not provided [RCV004706226] Chr10:110781809 [GRCh38]
Chr10:112541567 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.594T>C (p.Pro198=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001464830] Chr10:110781203 [GRCh38]
Chr10:112540961 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1239C>T (p.Ile413=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001474027] Chr10:110781848 [GRCh38]
Chr10:112541606 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1668+8T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001506813] Chr10:110797656 [GRCh38]
Chr10:112557414 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2385C>T (p.His795=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001502021] Chr10:110812782 [GRCh38]
Chr10:112572540 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3189G>A (p.Val1063=) single nucleotide variant Cardiovascular phenotype [RCV002324108]|Dilated cardiomyopathy 1DD [RCV001500529] Chr10:110821808 [GRCh38]
Chr10:112581566 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2634G>A (p.Pro878=) single nucleotide variant Cardiovascular phenotype [RCV002458498]|Dilated cardiomyopathy 1DD [RCV001515061]|not provided [RCV001615192] Chr10:110820155 [GRCh38]
Chr10:112579913 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.720T>C (p.Tyr240=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001420039] Chr10:110781329 [GRCh38]
Chr10:112541087 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.432T>G (p.Thr144=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001432559] Chr10:110781041 [GRCh38]
Chr10:112540799 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1809G>A (p.Gly603=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001478829] Chr10:110810391 [GRCh38]
Chr10:112570149 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1749T>C (p.Gly583=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001500813] Chr10:110799867 [GRCh38]
Chr10:112559625 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2061G>A (p.Glu687=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001467878] Chr10:110812458 [GRCh38]
Chr10:112572216 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1337+7G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001505528] Chr10:110783434 [GRCh38]
Chr10:112543192 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2847G>C (p.Val949=) single nucleotide variant Cardiovascular phenotype [RCV004038364]|Dilated cardiomyopathy 1DD [RCV001438457] Chr10:110821466 [GRCh38]
Chr10:112581224 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2304G>A (p.Ser768=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001400683] Chr10:110812701 [GRCh38]
Chr10:112572459 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1542A>G (p.Lys514=) single nucleotide variant Cardiovascular phenotype [RCV004038357]|Dilated cardiomyopathy 1DD [RCV001437757] Chr10:110797522 [GRCh38]
Chr10:112557280 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1800+8A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV001435206] Chr10:110799926 [GRCh38]
Chr10:112559684 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.460C>T (p.Gln154Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003771552]|not provided [RCV001508302] Chr10:110781069 [GRCh38]
Chr10:112540827 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.924C>T (p.Val308=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001465243] Chr10:110781533 [GRCh38]
Chr10:112541291 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3403C>T (p.Pro1135Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003108613] Chr10:110823566 [GRCh38]
Chr10:112583324 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1528-12del deletion Dilated cardiomyopathy 1DD [RCV003108618] Chr10:110797494 [GRCh38]
Chr10:112557252 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1948C>T (p.Pro650Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003104326] Chr10:110812345 [GRCh38]
Chr10:112572103 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2033dup (p.His678fs) duplication not provided [RCV001772744] Chr10:110812429..110812430 [GRCh38]
Chr10:112572187..112572188 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2715G>A (p.Met905Ile) single nucleotide variant Long QT syndrome [RCV003318450] Chr10:110821334 [GRCh38]
Chr10:112581092 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.839A>G (p.Lys280Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598053]|not provided [RCV001752739] Chr10:110781448 [GRCh38]
Chr10:112541206 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.19A>G (p.Met7Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005094967]|not provided [RCV001767122] Chr10:110644473 [GRCh38]
Chr10:112404231 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.551T>C (p.Met184Thr) single nucleotide variant Cardiovascular phenotype [RCV002343817]|Dilated cardiomyopathy 1DD [RCV001861086]|not provided [RCV001768809] Chr10:110781160 [GRCh38]
Chr10:112540918 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2740G>C (p.Val914Leu) single nucleotide variant not provided [RCV001773804] Chr10:110821359 [GRCh38]
Chr10:112581117 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.141_161dup (p.Pro48_Pro54dup) duplication Cardiovascular phenotype [RCV003298980]|Dilated cardiomyopathy 1DD [RCV001868574]|not provided [RCV001774413] Chr10:110644589..110644590 [GRCh38]
Chr10:112404347..112404348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1636A>G (p.Thr546Ala) single nucleotide variant not provided [RCV001774725] Chr10:110797616 [GRCh38]
Chr10:112557374 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.16G>A (p.Ala6Thr) single nucleotide variant Cardiovascular phenotype [RCV002405285]|Dilated cardiomyopathy 1DD [RCV002032746]|not provided [RCV001754128] Chr10:110644470 [GRCh38]
Chr10:112404228 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2731G>A (p.Val911Met) single nucleotide variant Cardiovascular phenotype [RCV004040847]|not provided [RCV001795514] Chr10:110821350 [GRCh38]
Chr10:112581108 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3264C>T (p.Pro1088=) single nucleotide variant Cardiomyopathy [RCV001799136]|Cardiovascular phenotype [RCV004040864]|Dilated cardiomyopathy 1DD [RCV002074136]|not specified [RCV001823790] Chr10:110821883 [GRCh38]
Chr10:112581641 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3402G>A (p.Leu1134=) single nucleotide variant Cardiovascular phenotype [RCV002458623]|Dilated cardiomyopathy 1DD [RCV001869638] Chr10:110823565 [GRCh38]
Chr10:112583323 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.650G>T (p.Gly217Val) single nucleotide variant Cardiovascular phenotype [RCV004040860]|Dilated cardiomyopathy 1DD [RCV002544347]|not provided [RCV001797493] Chr10:110781259 [GRCh38]
Chr10:112541017 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.620C>T (p.Pro207Leu) single nucleotide variant not provided [RCV001758748] Chr10:110781229 [GRCh38]
Chr10:112540987 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3116C>T (p.Pro1039Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001971209] Chr10:110821735 [GRCh38]
Chr10:112581493 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1883A>G (p.Tyr628Cys) single nucleotide variant Cardiovascular phenotype [RCV004988874]|Dilated cardiomyopathy 1DD [RCV001915172] Chr10:110812280 [GRCh38]
Chr10:112572038 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1053C>A (p.Asp351Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002008498] Chr10:110781662 [GRCh38]
Chr10:112541420 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1699G>A (p.Ala567Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001950523] Chr10:110799817 [GRCh38]
Chr10:112559575 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2434A>T (p.Thr812Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001970840] Chr10:110812831 [GRCh38]
Chr10:112572589 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1880+16C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001893674] Chr10:110810478 [GRCh38]
Chr10:112570236 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2041T>C (p.Tyr681His) single nucleotide variant Cardiovascular phenotype [RCV002422905]|Dilated cardiomyopathy 1DD [RCV001863786] Chr10:110812438 [GRCh38]
Chr10:112572196 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.129GCC[6] (p.Pro48dup) microsatellite Cardiovascular phenotype [RCV002389000]|Dilated cardiomyopathy 1DD [RCV001988753] Chr10:110644582..110644583 [GRCh38]
Chr10:112404340..112404341 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.119G>C (p.Gly40Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001987996] Chr10:110644573 [GRCh38]
Chr10:112404331 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2678G>A (p.Ser893Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001950276] Chr10:110821297 [GRCh38]
Chr10:112581055 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2971T>C (p.Cys991Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001895932] Chr10:110821590 [GRCh38]
Chr10:112581348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1747G>A (p.Gly583Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001929826] Chr10:110799865 [GRCh38]
Chr10:112559623 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2213C>G (p.Pro738Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001929096] Chr10:110812610 [GRCh38]
Chr10:112572368 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1004C>T (p.Ala335Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001971164] Chr10:110781613 [GRCh38]
Chr10:112541371 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1691C>T (p.Thr564Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001988227] Chr10:110799809 [GRCh38]
Chr10:112559567 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1590C>A (p.Cys530Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001986613] Chr10:110797570 [GRCh38]
Chr10:112557328 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1059G>A (p.Glu353=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001914815] Chr10:110781668 [GRCh38]
Chr10:112541426 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.3198C>T (p.Cys1066=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001892320] Chr10:110821817 [GRCh38]
Chr10:112581575 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2714T>G (p.Met905Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001910017] Chr10:110821333 [GRCh38]
Chr10:112581091 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3501G>T (p.Gly1167=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001966309] Chr10:110831110 [GRCh38]
Chr10:112590868 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.98del (p.Pro33fs) deletion Cardiovascular phenotype [RCV002386679]|Dilated cardiomyopathy 1DD [RCV001891421]|not provided [RCV002509714] Chr10:110644549 [GRCh38]
Chr10:112404307 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1097G>A (p.Gly366Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001968967] Chr10:110781706 [GRCh38]
Chr10:112541464 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3463G>A (p.Val1155Met) single nucleotide variant Cardiovascular phenotype [RCV003303639]|Dilated cardiomyopathy 1DD [RCV002042995]|not provided [RCV003426289] Chr10:110831072 [GRCh38]
Chr10:112590830 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.3098A>G (p.Glu1033Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001948080] Chr10:110821717 [GRCh38]
Chr10:112581475 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.721G>C (p.Gly241Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001890787] Chr10:110781330 [GRCh38]
Chr10:112541088 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
GRCh37/hg19 10q25.1-25.3(chr10:107092654-117852548)x1 copy number loss not provided [RCV001827678] Chr10:107092654..117852548 [GRCh37]
Chr10:10q25.1-25.3		 uncertain significance
NM_001134363.3(RBM20):c.437C>T (p.Pro146Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002042471] Chr10:110781046 [GRCh38]
Chr10:112540804 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1960T>C (p.Ser654Pro) single nucleotide variant Cardiovascular phenotype [RCV002422929]|Dilated cardiomyopathy 1DD [RCV001947367]|RBM20-related disorder [RCV003401801] Chr10:110812357 [GRCh38]
Chr10:112572115 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
GRCh37/hg19 10q24.32-25.3(chr10:104030479-115410590) copy number loss not specified [RCV002052885] Chr10:104030479..115410590 [GRCh37]
Chr10:10q24.32-25.3		 pathogenic
GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143) copy number gain not specified [RCV002052891] Chr10:108455687..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_001134363.3(RBM20):c.1908T>C (p.Arg636=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002039660] Chr10:110812305 [GRCh38]
Chr10:112572063 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001965402] Chr10:110812807 [GRCh38]
Chr10:112572565 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.1741A>G (p.Ile581Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001909162]|not provided [RCV004693918] Chr10:110799859 [GRCh38]
Chr10:112559617 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2383C>A (p.His795Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001893664] Chr10:110812780 [GRCh38]
Chr10:112572538 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.505A>G (p.Ile169Val) single nucleotide variant Cardiovascular phenotype [RCV002346312]|Dilated cardiomyopathy 1DD [RCV002021707] Chr10:110781114 [GRCh38]
Chr10:112540872 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2807A>G (p.Asp936Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001969366] Chr10:110821426 [GRCh38]
Chr10:112581184 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2140C>T (p.His714Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001965649] Chr10:110812537 [GRCh38]
Chr10:112572295 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3154G>A (p.Ala1052Thr) single nucleotide variant Cardiovascular phenotype [RCV003170191]|Dilated cardiomyopathy 1DD [RCV001965887] Chr10:110821773 [GRCh38]
Chr10:112581531 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2687del (p.Glu896fs) deletion Primary familial dilated cardiomyopathy [RCV001825060]|not provided [RCV002307766] Chr10:110821306 [GRCh38]
Chr10:112581064 [GRCh37]
Chr10:10q25.2		 likely pathogenic|uncertain significance
NM_001134363.3(RBM20):c.1881A>G (p.Arg627=) single nucleotide variant Cardiovascular phenotype [RCV002407059]|Dilated cardiomyopathy 1DD [RCV001913613] Chr10:110812278 [GRCh38]
Chr10:112572036 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NC_000010.10:g.(?_111860412)_(112404423_?)dup duplication not provided [RCV002004916] Chr10:111860412..112404423 [GRCh37]
Chr10:10q25.1-25.2		 uncertain significance
NM_001134363.3(RBM20):c.829G>A (p.Ala277Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001986943] Chr10:110781438 [GRCh38]
Chr10:112541196 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3277G>T (p.Asp1093Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002006514] Chr10:110821896 [GRCh38]
Chr10:112581654 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2833A>T (p.Thr945Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001967625] Chr10:110821452 [GRCh38]
Chr10:112581210 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1708A>G (p.Met570Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001908240] Chr10:110799826 [GRCh38]
Chr10:112559584 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2303C>A (p.Ser768Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002021541] Chr10:110812700 [GRCh38]
Chr10:112572458 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3134A>G (p.Gln1045Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001948656] Chr10:110821753 [GRCh38]
Chr10:112581511 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1472C>T (p.Ala491Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001984168] Chr10:110784834 [GRCh38]
Chr10:112544592 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2263C>T (p.Arg755Cys) single nucleotide variant Cardiovascular phenotype [RCV002449440]|Dilated cardiomyopathy 1DD [RCV001885366]|not specified [RCV001823825] Chr10:110812660 [GRCh38]
Chr10:112572418 [GRCh37]
Chr10:10q25.2		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.822T>C (p.Gly274=) single nucleotide variant Cardiovascular phenotype [RCV002406902]|Dilated cardiomyopathy 1DD [RCV003598060]|not specified [RCV001823836] Chr10:110781431 [GRCh38]
Chr10:112541189 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1289A>G (p.His430Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001895555] Chr10:110783379 [GRCh38]
Chr10:112543137 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1279T>C (p.Trp427Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001909258] Chr10:110783369 [GRCh38]
Chr10:112543127 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1444C>G (p.Leu482Val) single nucleotide variant Cardiovascular phenotype [RCV003382782]|Dilated cardiomyopathy 1DD [RCV001986056] Chr10:110784806 [GRCh38]
Chr10:112544564 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3025A>G (p.Lys1009Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001894703] Chr10:110821644 [GRCh38]
Chr10:112581402 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3265C>T (p.Pro1089Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002023603] Chr10:110821884 [GRCh38]
Chr10:112581642 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1429+6C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002043678] Chr10:110784438 [GRCh38]
Chr10:112544196 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.35A>T (p.Asp12Val) single nucleotide variant Cardiovascular phenotype [RCV004988859]|Dilated cardiomyopathy 1DD [RCV001889502] Chr10:110644489 [GRCh38]
Chr10:112404247 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.151C>T (p.Pro51Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001913144] Chr10:110644605 [GRCh38]
Chr10:112404363 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1360G>T (p.Gly454Cys) single nucleotide variant Cardiovascular phenotype [RCV002386928]|Dilated cardiomyopathy 1DD [RCV002021671]|RBM20-related disorder [RCV004752129] Chr10:110784363 [GRCh38]
Chr10:112544121 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1184A>G (p.Gln395Arg) single nucleotide variant not specified [RCV001823837] Chr10:110781793 [GRCh38]
Chr10:112541551 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1316A>T (p.Lys439Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001932354] Chr10:110783406 [GRCh38]
Chr10:112543164 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2443_2454del (p.Pro815_Ala818del) deletion Dilated cardiomyopathy 1DD [RCV001887665] Chr10:110812837..110812848 [GRCh38]
Chr10:112572595..112572606 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2109G>C (p.Arg703Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001999271] Chr10:110812506 [GRCh38]
Chr10:112572264 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2113G>A (p.Asp705Asn) single nucleotide variant Cardiovascular phenotype [RCV004656670]|Dilated cardiomyopathy 1DD [RCV002046805] Chr10:110812510 [GRCh38]
Chr10:112572268 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2009G>A (p.Gly670Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001886438] Chr10:110812406 [GRCh38]
Chr10:112572164 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2358C>A (p.Asp786Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001936822] Chr10:110812755 [GRCh38]
Chr10:112572513 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2016C>T (p.Gly672=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001957449] Chr10:110812413 [GRCh38]
Chr10:112572171 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3053C>T (p.Ser1018Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002036908] Chr10:110821672 [GRCh38]
Chr10:112581430 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3452G>A (p.Gly1151Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001887373] Chr10:110831061 [GRCh38]
Chr10:112590819 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.977C>T (p.Ser326Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001982172] Chr10:110781586 [GRCh38]
Chr10:112541344 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2720_2725del (p.Glu907_Leu908del) deletion Dilated cardiomyopathy 1DD [RCV001924523] Chr10:110821337..110821342 [GRCh38]
Chr10:112581095..112581100 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.856A>G (p.Asn286Asp) single nucleotide variant Cardiovascular phenotype [RCV002449516]|Dilated cardiomyopathy 1DD [RCV001883256] Chr10:110781465 [GRCh38]
Chr10:112541223 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.691T>A (p.Tyr231Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002047478] Chr10:110781300 [GRCh38]
Chr10:112541058 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3551C>T (p.Ala1184Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001979193] Chr10:110831160 [GRCh38]
Chr10:112590918 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2550+1G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002037341] Chr10:110812948 [GRCh38]
Chr10:112572706 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2518del (p.Asp840fs) deletion Dilated cardiomyopathy 1DD [RCV002039199] Chr10:110812915 [GRCh38]
Chr10:112572673 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2960C>T (p.Ala987Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001888841] Chr10:110821579 [GRCh38]
Chr10:112581337 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.864A>G (p.Gln288=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001956850] Chr10:110781473 [GRCh38]
Chr10:112541231 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.104C>G (p.Pro35Arg) single nucleotide variant Cardiovascular phenotype [RCV002397923]|Dilated cardiomyopathy 1DD [RCV001921672] Chr10:110644558 [GRCh38]
Chr10:112404316 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1234C>A (p.His412Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001905304] Chr10:110781843 [GRCh38]
Chr10:112541601 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2385C>A (p.His795Gln) single nucleotide variant Cardiovascular phenotype [RCV002458907]|Dilated cardiomyopathy 1DD [RCV001995004] Chr10:110812782 [GRCh38]
Chr10:112572540 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1881-1G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002036388] Chr10:110812277 [GRCh38]
Chr10:112572035 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.397C>G (p.Leu133Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001976348] Chr10:110781006 [GRCh38]
Chr10:112540764 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+5G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV001922401] Chr10:110823619 [GRCh38]
Chr10:112583377 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3485A>T (p.Tyr1162Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002016236] Chr10:110831094 [GRCh38]
Chr10:112590852 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3155C>T (p.Ala1052Val) single nucleotide variant Cardiovascular phenotype [RCV002324492]|Dilated cardiomyopathy 1DD [RCV002029411] Chr10:110821774 [GRCh38]
Chr10:112581532 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1990C>T (p.Pro664Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001867427] Chr10:110812387 [GRCh38]
Chr10:112572145 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.14C>T (p.Ala5Val) single nucleotide variant Cardiovascular phenotype [RCV004671476]|Dilated cardiomyopathy 1DD [RCV001867444] Chr10:110644468 [GRCh38]
Chr10:112404226 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3484del (p.Tyr1162fs) deletion Dilated cardiomyopathy 1DD [RCV001992505] Chr10:110831090 [GRCh38]
Chr10:112590848 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1222del (p.Leu408fs) deletion Cardiovascular phenotype [RCV004040628]|Dilated cardiomyopathy 1DD [RCV001879283] Chr10:110781826 [GRCh38]
Chr10:112541584 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.793G>A (p.Gly265Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002032941] Chr10:110781402 [GRCh38]
Chr10:112541160 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3494T>C (p.Leu1165Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002014669] Chr10:110831103 [GRCh38]
Chr10:112590861 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2374G>A (p.Glu792Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001900743] Chr10:110812771 [GRCh38]
Chr10:112572529 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1733C>G (p.Ser578Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001902681] Chr10:110799851 [GRCh38]
Chr10:112559609 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2422G>T (p.Gly808Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002010976] Chr10:110812819 [GRCh38]
Chr10:112572577 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2591A>C (p.Gln864Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001935569] Chr10:110820112 [GRCh38]
Chr10:112579870 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.147_164del (p.44PPPPPQ[1]) deletion Dilated cardiomyopathy 1DD [RCV001898803] Chr10:110644593..110644610 [GRCh38]
Chr10:112404351..112404368 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1210G>T (p.Gly404Cys) single nucleotide variant Cardiovascular phenotype [RCV004039020]|Dilated cardiomyopathy 1DD [RCV001866883] Chr10:110781819 [GRCh38]
Chr10:112541577 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3592_3612dup (p.Ala1198_Glu1204dup) duplication Dilated cardiomyopathy 1DD [RCV001866906] Chr10:110835884..110835885 [GRCh38]
Chr10:112595642..112595643 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.811G>A (p.Gly271Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002029259] Chr10:110781420 [GRCh38]
Chr10:112541178 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.2414A>T (p.Asp805Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001994302] Chr10:110812811 [GRCh38]
Chr10:112572569 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2242T>C (p.Ser748Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002026649] Chr10:110812639 [GRCh38]
Chr10:112572397 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112540539)_(112583392_?)del deletion Dilated cardiomyopathy 1DD [RCV001916335] Chr10:112540539..112583392 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2540C>T (p.Ala847Val) single nucleotide variant Cardiovascular phenotype [RCV002458743]|Dilated cardiomyopathy 1DD [RCV001882142] Chr10:110812937 [GRCh38]
Chr10:112572695 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.659G>A (p.Gly220Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001906316] Chr10:110781268 [GRCh38]
Chr10:112541026 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1990_2000del (p.Gly663_Pro664insTer) deletion Dilated cardiomyopathy 1DD [RCV001917906] Chr10:110812381..110812391 [GRCh38]
Chr10:112572139..112572149 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2188G>C (p.Gly730Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001955674] Chr10:110812585 [GRCh38]
Chr10:112572343 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112579810)_(112595736_?)dup duplication Dilated cardiomyopathy 1DD [RCV001959759] Chr10:112579810..112595736 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.536_537delinsTT (p.Gly179Val) indel Cardiovascular phenotype [RCV002343893]|Dilated cardiomyopathy 1DD [RCV001876389] Chr10:110781145..110781146 [GRCh38]
Chr10:112540903..112540904 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.413G>C (p.Arg138Thr) single nucleotide variant Cardiovascular phenotype [RCV003382715]|Dilated cardiomyopathy 1DD [RCV001920713] Chr10:110781022 [GRCh38]
Chr10:112540780 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.967C>A (p.His323Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001906541] Chr10:110781576 [GRCh38]
Chr10:112541334 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3266C>T (p.Pro1089Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002031186] Chr10:110821885 [GRCh38]
Chr10:112581643 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3365A>G (p.Glu1122Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001992778] Chr10:110823528 [GRCh38]
Chr10:112583286 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.55C>A (p.Pro19Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001881523] Chr10:110644509 [GRCh38]
Chr10:112404267 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.880A>G (p.Ser294Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001980176] Chr10:110781489 [GRCh38]
Chr10:112541247 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2815G>A (p.Asp939Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002025988] Chr10:110821434 [GRCh38]
Chr10:112581192 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3534G>A (p.Met1178Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002026008] Chr10:110831143 [GRCh38]
Chr10:112590901 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2038C>T (p.Pro680Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001973418] Chr10:110812435 [GRCh38]
Chr10:112572193 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2312A>G (p.Tyr771Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001954920] Chr10:110812709 [GRCh38]
Chr10:112572467 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1136G>A (p.Gly379Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001972030] Chr10:110781745 [GRCh38]
Chr10:112541503 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112404213)_(112771576_?)del deletion Dilated cardiomyopathy 1DD [RCV001940028] Chr10:112404213..112771576 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2676A>C (p.Glu892Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001995214] Chr10:110821295 [GRCh38]
Chr10:112581053 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1172T>G (p.Val391Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001997407] Chr10:110781781 [GRCh38]
Chr10:112541539 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3662G>A (p.Arg1221His) single nucleotide variant Cardiomyopathy [RCV003150469]|Cardiovascular phenotype [RCV002458783]|Dilated cardiomyopathy 1DD [RCV001940093]|not provided [RCV003442955] Chr10:110835956 [GRCh38]
Chr10:112595714 [GRCh37]
Chr10:10q25.2		 benign|likely benign|uncertain significance
NM_001134363.3(RBM20):c.3109G>A (p.Val1037Ile) single nucleotide variant Cardiovascular phenotype [RCV004656730]|Dilated cardiomyopathy 1DD [RCV001918737] Chr10:110821728 [GRCh38]
Chr10:112581486 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.844T>G (p.Phe282Val) single nucleotide variant Cardiovascular phenotype [RCV002443000]|Dilated cardiomyopathy 1DD [RCV002030531] Chr10:110781453 [GRCh38]
Chr10:112541211 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1820C>T (p.Ala607Val) single nucleotide variant Cardiovascular phenotype [RCV004039068]|Dilated cardiomyopathy 1DD [RCV001875766]|not provided [RCV002286857] Chr10:110810402 [GRCh38]
Chr10:112570160 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1112G>T (p.Ser371Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002013065] Chr10:110781721 [GRCh38]
Chr10:112541479 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2152C>G (p.Leu718Val) single nucleotide variant Cardiovascular phenotype [RCV002425327]|Dilated cardiomyopathy 1DD [RCV001956180] Chr10:110812549 [GRCh38]
Chr10:112572307 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.57_58delinsTT (p.Asp20Tyr) indel Dilated cardiomyopathy 1DD [RCV001996906] Chr10:110644511..110644512 [GRCh38]
Chr10:112404269..112404270 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3516C>T (p.Ser1172=) single nucleotide variant Cardiovascular phenotype [RCV003303389]|Dilated cardiomyopathy 1DD [RCV001938469] Chr10:110831125 [GRCh38]
Chr10:112590883 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1880+6G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV001925909] Chr10:110810468 [GRCh38]
Chr10:112570226 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2437A>G (p.Arg813Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001924201] Chr10:110812834 [GRCh38]
Chr10:112572592 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1365G>A (p.Ser455=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001981090] Chr10:110784368 [GRCh38]
Chr10:112544126 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2942C>T (p.Pro981Leu) single nucleotide variant Cardiovascular phenotype [RCV004988998]|Dilated cardiomyopathy 1DD [RCV001959528] Chr10:110821561 [GRCh38]
Chr10:112581319 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.404A>G (p.Asn135Ser) single nucleotide variant Cardiovascular phenotype [RCV002324468]|Dilated cardiomyopathy 1DD [RCV002035633] Chr10:110781013 [GRCh38]
Chr10:112540771 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1429+1G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002036187] Chr10:110784433 [GRCh38]
Chr10:112544191 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2072C>T (p.Ala691Val) single nucleotide variant Cardiovascular phenotype [RCV003167075]|Dilated cardiomyopathy 1DD [RCV001925228] Chr10:110812469 [GRCh38]
Chr10:112572227 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1429G>T (p.Asp477Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001998207] Chr10:110784432 [GRCh38]
Chr10:112544190 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1498A>T (p.Thr500Ser) single nucleotide variant Cardiovascular phenotype [RCV004042593]|Dilated cardiomyopathy 1DD [RCV001925444] Chr10:110784860 [GRCh38]
Chr10:112544618 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.52C>A (p.Gln18Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001954539] Chr10:110644506 [GRCh38]
Chr10:112404264 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.353C>T (p.Thr118Ile) single nucleotide variant Cardiovascular phenotype [RCV002458915]|Dilated cardiomyopathy 1DD [RCV001977373] Chr10:110780962 [GRCh38]
Chr10:112540720 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2612AAG[1] (p.Glu872del) microsatellite Cardiovascular phenotype [RCV002458638]|Dilated cardiomyopathy 1DD [RCV002049803] Chr10:110820133..110820135 [GRCh38]
Chr10:112579891..112579893 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.87_92del (p.Arg30_Ala31del) deletion Dilated cardiomyopathy 1DD [RCV002029230] Chr10:110644539..110644544 [GRCh38]
Chr10:112404297..112404302 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.522del (p.Ser175fs) deletion Dilated cardiomyopathy 1DD [RCV002049992] Chr10:110781126 [GRCh38]
Chr10:112540884 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.125A>G (p.Gln42Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV001979405] Chr10:110644579 [GRCh38]
Chr10:112404337 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.192-42229C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002110483] Chr10:110738572 [GRCh38]
Chr10:112498330 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.105C>T (p.Pro35=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002104939] Chr10:110644559 [GRCh38]
Chr10:112404317 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3171G>A (p.Arg1057=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002085532] Chr10:110821790 [GRCh38]
Chr10:112581548 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1668+17T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002110587] Chr10:110797665 [GRCh38]
Chr10:112557423 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2616A>G (p.Glu872=) single nucleotide variant Cardiovascular phenotype [RCV003307996]|Dilated cardiomyopathy 1DD [RCV002130313] Chr10:110820137 [GRCh38]
Chr10:112579895 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.333C>G (p.Thr111=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002110586] Chr10:110780942 [GRCh38]
Chr10:112540700 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-13T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002145832] Chr10:110820059 [GRCh38]
Chr10:112579817 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.109_112del (p.Gly37fs) deletion not provided [RCV002210961] Chr10:110644561..110644564 [GRCh38]
Chr10:112404319..112404322 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3316+13C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002126368] Chr10:110821948 [GRCh38]
Chr10:112581706 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.126G>A (p.Gln42=) single nucleotide variant Cardiovascular phenotype [RCV002372860]|Dilated cardiomyopathy 1DD [RCV002188249] Chr10:110644580 [GRCh38]
Chr10:112404338 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1880+19A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002205514] Chr10:110810481 [GRCh38]
Chr10:112570239 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.456T>C (p.Val152=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002127874] Chr10:110781065 [GRCh38]
Chr10:112540823 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.801C>T (p.Tyr267=) single nucleotide variant Cardiovascular phenotype [RCV002416497]|Dilated cardiomyopathy 1DD [RCV002148330] Chr10:110781410 [GRCh38]
Chr10:112541168 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.191+7A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002090821] Chr10:110644652 [GRCh38]
Chr10:112404410 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.735T>C (p.Asp245=) single nucleotide variant Cardiovascular phenotype [RCV004046493]|Dilated cardiomyopathy 1DD [RCV002106660] Chr10:110781344 [GRCh38]
Chr10:112541102 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.532C>A (p.Arg178=) single nucleotide variant Cardiovascular phenotype [RCV004656857]|Dilated cardiomyopathy 1DD [RCV002072473]|not specified [RCV003235669] Chr10:110781141 [GRCh38]
Chr10:112540899 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3099G>A (p.Glu1033=) single nucleotide variant Cardiovascular phenotype [RCV003339908]|Dilated cardiomyopathy 1DD [RCV002106744]|not specified [RCV005057951] Chr10:110821718 [GRCh38]
Chr10:112581476 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.75T>C (p.Ser25=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002075117] Chr10:110644529 [GRCh38]
Chr10:112404287 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.906G>T (p.Gly302=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002091704]|not provided [RCV003222395] Chr10:110781515 [GRCh38]
Chr10:112541273 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.828T>C (p.Ala276=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002188379] Chr10:110781437 [GRCh38]
Chr10:112541195 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1191T>C (p.His397=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002106757] Chr10:110781800 [GRCh38]
Chr10:112541558 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3675A>G (p.Lys1225=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002087036] Chr10:110835969 [GRCh38]
Chr10:112595727 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3507C>T (p.Phe1169=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002192484] Chr10:110831116 [GRCh38]
Chr10:112590874 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1338-20C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002167776] Chr10:110784321 [GRCh38]
Chr10:112544079 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2307C>T (p.Asp769=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002185739] Chr10:110812704 [GRCh38]
Chr10:112572462 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.467C>T (p.Ala156Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002113822] Chr10:110781076 [GRCh38]
Chr10:112540834 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1554T>A (p.Arg518=) single nucleotide variant Cardiovascular phenotype [RCV002400375]|Dilated cardiomyopathy 1DD [RCV002168818] Chr10:110797534 [GRCh38]
Chr10:112557292 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3574-20T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002153553] Chr10:110835848 [GRCh38]
Chr10:112595606 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.522C>A (p.Pro174=) single nucleotide variant Cardiovascular phenotype [RCV004982879]|Dilated cardiomyopathy 1DD [RCV002170699] Chr10:110781131 [GRCh38]
Chr10:112540889 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.3317-6T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002174489] Chr10:110823474 [GRCh38]
Chr10:112583232 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2310G>A (p.Lys770=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002078895] Chr10:110812707 [GRCh38]
Chr10:112572465 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1452A>G (p.Thr484=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002191765] Chr10:110784814 [GRCh38]
Chr10:112544572 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1548T>C (p.Ala516=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002131716] Chr10:110797528 [GRCh38]
Chr10:112557286 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1669-14C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002115172] Chr10:110799773 [GRCh38]
Chr10:112559531 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.999C>G (p.Leu333=) single nucleotide variant Cardiovascular phenotype [RCV003161376]|Dilated cardiomyopathy 1DD [RCV002175123] Chr10:110781608 [GRCh38]
Chr10:112541366 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2502C>T (p.Asp834=) single nucleotide variant Cardiovascular phenotype [RCV004046594]|Dilated cardiomyopathy 1DD [RCV002150809] Chr10:110812899 [GRCh38]
Chr10:112572657 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3451+15C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002095785] Chr10:110823629 [GRCh38]
Chr10:112583387 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1221C>G (p.Pro407=) single nucleotide variant Cardiovascular phenotype [RCV003161484]|Dilated cardiomyopathy 1DD [RCV002095937] Chr10:110781830 [GRCh38]
Chr10:112541588 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1677A>G (p.Leu559=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002172880] Chr10:110799795 [GRCh38]
Chr10:112559553 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2382A>G (p.Arg794=) single nucleotide variant Cardiovascular phenotype [RCV003161495]|Dilated cardiomyopathy 1DD [RCV002096481] Chr10:110812779 [GRCh38]
Chr10:112572537 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3495G>A (p.Leu1165=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002109261] Chr10:110831104 [GRCh38]
Chr10:112590862 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2076C>T (p.Pro692=) single nucleotide variant Cardiovascular phenotype [RCV003308056]|Dilated cardiomyopathy 1DD [RCV002206541] Chr10:110812473 [GRCh38]
Chr10:112572231 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3123T>C (p.Pro1041=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002147971] Chr10:110821742 [GRCh38]
Chr10:112581500 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3493C>T (p.Leu1165=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002174146] Chr10:110831102 [GRCh38]
Chr10:112590860 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2241C>T (p.His747=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002196235] Chr10:110812638 [GRCh38]
Chr10:112572396 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3452-19A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002078102] Chr10:110831042 [GRCh38]
Chr10:112590800 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.933G>A (p.Leu311=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002073802] Chr10:110781542 [GRCh38]
Chr10:112541300 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1385del (p.Ala462fs) deletion Dilated cardiomyopathy 1DD [RCV002077359] Chr10:110784388 [GRCh38]
Chr10:112544146 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.2229C>A (p.Pro743=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002195794] Chr10:110812626 [GRCh38]
Chr10:112572384 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2656-15T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002192642] Chr10:110821260 [GRCh38]
Chr10:112581018 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2493T>C (p.Thr831=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002103481] Chr10:110812890 [GRCh38]
Chr10:112572648 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-17G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002199803] Chr10:110820055 [GRCh38]
Chr10:112579813 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3574-13C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002175583] Chr10:110835855 [GRCh38]
Chr10:112595613 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1314G>A (p.Gln438=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002158732] Chr10:110783404 [GRCh38]
Chr10:112543162 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-19C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002102606] Chr10:110823461 [GRCh38]
Chr10:112583219 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1029C>T (p.His343=) single nucleotide variant Cardiovascular phenotype [RCV002382376]|Dilated cardiomyopathy 1DD [RCV002142194] Chr10:110781638 [GRCh38]
Chr10:112541396 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2214G>T (p.Pro738=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002102947] Chr10:110812611 [GRCh38]
Chr10:112572369 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1430-19T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002118924] Chr10:110784773 [GRCh38]
Chr10:112544531 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3316+11C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002143060] Chr10:110821946 [GRCh38]
Chr10:112581704 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.978G>C (p.Ser326=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002160466] Chr10:110781587 [GRCh38]
Chr10:112541345 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1110C>T (p.Asn370=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002083944] Chr10:110781719 [GRCh38]
Chr10:112541477 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3249G>A (p.Glu1083=) single nucleotide variant Cardiovascular phenotype [RCV003382849]|Dilated cardiomyopathy 1DD [RCV002160542] Chr10:110821868 [GRCh38]
Chr10:112581626 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3129C>A (p.Val1043=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002122394] Chr10:110821748 [GRCh38]
Chr10:112581506 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3162G>A (p.Glu1054=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002176592] Chr10:110821781 [GRCh38]
Chr10:112581539 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1326C>T (p.Val442=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002201486] Chr10:110783416 [GRCh38]
Chr10:112543174 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.72C>T (p.Cys24=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002162972] Chr10:110644526 [GRCh38]
Chr10:112404284 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1528-18G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002139533] Chr10:110797490 [GRCh38]
Chr10:112557248 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1557G>A (p.Val519=) single nucleotide variant Cardiovascular phenotype [RCV004982892]|Dilated cardiomyopathy 1DD [RCV002220862] Chr10:110797537 [GRCh38]
Chr10:112557295 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1332T>C (p.Ser444=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002219725] Chr10:110783422 [GRCh38]
Chr10:112543180 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+10A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002141778] Chr10:110812957 [GRCh38]
Chr10:112572715 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1263G>A (p.Val421=) single nucleotide variant Cardiovascular phenotype [RCV003161449]|Dilated cardiomyopathy 1DD [RCV002081248] Chr10:110781872 [GRCh38]
Chr10:112541630 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.15A>T (p.Ala5=) single nucleotide variant Cardiovascular phenotype [RCV004046999]|Dilated cardiomyopathy 1DD [RCV002138980] Chr10:110644469 [GRCh38]
Chr10:112404227 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1337+18_1337+20del microsatellite Dilated cardiomyopathy 1DD [RCV002179069] Chr10:110783441..110783443 [GRCh38]
Chr10:112543199..112543201 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1900C>A (p.Arg634=) single nucleotide variant Cardiovascular phenotype [RCV002409499]|Dilated cardiomyopathy 1DD [RCV002100679]|not specified [RCV003479403] Chr10:110812297 [GRCh38]
Chr10:112572055 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.704G>T (p.Ser235Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002082440] Chr10:110781313 [GRCh38]
Chr10:112541071 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2223G>T (p.Gly741=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002082801] Chr10:110812620 [GRCh38]
Chr10:112572378 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2047A>G (p.Arg683Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003118292] Chr10:110812444 [GRCh38]
Chr10:112572202 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_111860412)_(112839579_?)dup duplication Cornelia de Lange syndrome 3 [RCV003116369] Chr10:111860412..112839579 [GRCh37]
Chr10:10q25.1-25.2		 uncertain significance
NM_001134363.3(RBM20):c.1815C>G (p.Ala605=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003121925] Chr10:110810397 [GRCh38]
Chr10:112570155 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3636del (p.Arg1212fs) deletion Dilated cardiomyopathy 1DD [RCV005105078]|not provided [RCV004787447] Chr10:110835929 [GRCh38]
Chr10:112595687 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2006G>A (p.Trp669Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005105002]|not provided [RCV004776944] Chr10:110812403 [GRCh38]
Chr10:112572161 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3076G>C (p.Glu1026Gln) single nucleotide variant not provided [RCV003233131] Chr10:110821695 [GRCh38]
Chr10:112581453 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.2(chr10:112516278-112591134) copy number loss Dilated cardiomyopathy 1DD [RCV002280764] Chr10:112516278..112591134 [GRCh37]
Chr10:10q25.2		 pathogenic
NM_001134363.3(RBM20):c.743C>T (p.Pro248Leu) single nucleotide variant Cardiovascular phenotype [RCV002385061]|Dilated cardiomyopathy 1DD [RCV003103401] Chr10:110781352 [GRCh38]
Chr10:112541110 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3666C>G (p.Phe1222Leu) single nucleotide variant Cardiovascular phenotype [RCV002452597]|Dilated cardiomyopathy 1DD [RCV003094285]|not provided [RCV004774659] Chr10:110835960 [GRCh38]
Chr10:112595718 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.780T>G (p.Ser260Arg) single nucleotide variant not provided [RCV002287092] Chr10:110781389 [GRCh38]
Chr10:112541147 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1528T>C (p.Phe510Leu) single nucleotide variant not provided [RCV003230241] Chr10:110797508 [GRCh38]
Chr10:112557266 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.338A>C (p.Asn113Thr) single nucleotide variant Cardiovascular phenotype [RCV002451883] Chr10:110780947 [GRCh38]
Chr10:112540705 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.164A>G (p.Gln55Arg) single nucleotide variant Cardiomyopathy [RCV002281601] Chr10:110644618 [GRCh38]
Chr10:112404376 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.-2G>T single nucleotide variant Cardiovascular phenotype [RCV002435638] Chr10:110644453 [GRCh38]
Chr10:112404211 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.973T>C (p.Phe325Leu) single nucleotide variant Cardiovascular phenotype [RCV002387080]|Dilated cardiomyopathy 1DD [RCV003598116] Chr10:110781582 [GRCh38]
Chr10:112541340 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3015T>G (p.Asp1005Glu) single nucleotide variant Cardiovascular phenotype [RCV002435821] Chr10:110821634 [GRCh38]
Chr10:112581392 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1332del (p.Glu445fs) deletion Cardiovascular phenotype [RCV002387526] Chr10:110783422 [GRCh38]
Chr10:112543180 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2031G>T (p.Glu677Asp) single nucleotide variant Cardiovascular phenotype [RCV002419797] Chr10:110812428 [GRCh38]
Chr10:112572186 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.302A>G (p.His101Arg) single nucleotide variant Cardiovascular phenotype [RCV002435972] Chr10:110780911 [GRCh38]
Chr10:112540669 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.669A>G (p.Pro223=) single nucleotide variant Cardiovascular phenotype [RCV002367098] Chr10:110781278 [GRCh38]
Chr10:112541036 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.490T>G (p.Phe164Val) single nucleotide variant Cardiovascular phenotype [RCV002351216] Chr10:110781099 [GRCh38]
Chr10:112540857 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1319G>C (p.Cys440Ser) single nucleotide variant Cardiovascular phenotype [RCV002385633] Chr10:110783409 [GRCh38]
Chr10:112543167 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.807C>G (p.His269Gln) single nucleotide variant Cardiovascular phenotype [RCV002419388]|Dilated cardiomyopathy 1DD [RCV005097189] Chr10:110781416 [GRCh38]
Chr10:112541174 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2314C>T (p.Leu772=) single nucleotide variant Cardiovascular phenotype [RCV003305721] Chr10:110812711 [GRCh38]
Chr10:112572469 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1969_1970delinsAT (p.Ser657Ile) indel Dilated cardiomyopathy 1DD [RCV002470437] Chr10:110812366..110812367 [GRCh38]
Chr10:112572124..112572125 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.521C>G (p.Pro174Arg) single nucleotide variant Cardiovascular phenotype [RCV002344289]|Dilated cardiomyopathy 1DD [RCV003096659]|not provided [RCV003313274] Chr10:110781130 [GRCh38]
Chr10:112540888 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.347C>T (p.Ala116Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002837953] Chr10:110780956 [GRCh38]
Chr10:112540714 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2115C>A (p.Asp705Glu) single nucleotide variant Cardiovascular phenotype [RCV002417540] Chr10:110812512 [GRCh38]
Chr10:112572270 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1063C>A (p.Pro355Thr) single nucleotide variant Cardiovascular phenotype [RCV002412663] Chr10:110781672 [GRCh38]
Chr10:112541430 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1070C>A (p.Ser357Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002750484] Chr10:110781679 [GRCh38]
Chr10:112541437 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1289A>C (p.His430Pro) single nucleotide variant Cardiovascular phenotype [RCV003288264]|Dilated cardiomyopathy 1DD [RCV003495330] Chr10:110783379 [GRCh38]
Chr10:112543137 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2463G>A (p.Lys821=) single nucleotide variant Cardiovascular phenotype [RCV003288265]|Dilated cardiomyopathy 1DD [RCV005061207] Chr10:110812860 [GRCh38]
Chr10:112572618 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.586A>T (p.Met196Leu) single nucleotide variant Cardiovascular phenotype [RCV002353441]|Dilated cardiomyopathy 1DD [RCV003598096] Chr10:110781195 [GRCh38]
Chr10:112540953 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.736G>T (p.Gly246Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002299603] Chr10:110781345 [GRCh38]
Chr10:112541103 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3420G>A (p.Glu1140=) single nucleotide variant Cardiovascular phenotype [RCV002456944] Chr10:110823583 [GRCh38]
Chr10:112583341 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3422A>T (p.Asp1141Val) single nucleotide variant Cardiovascular phenotype [RCV002456962]|Dilated cardiomyopathy 1DD [RCV003099470] Chr10:110823585 [GRCh38]
Chr10:112583343 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2416G>A (p.Gly806Arg) single nucleotide variant Cardiovascular phenotype [RCV002450366]|Dilated cardiomyopathy 1DD [RCV003101797] Chr10:110812813 [GRCh38]
Chr10:112572571 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2088C>T (p.Asn696=) single nucleotide variant Cardiovascular phenotype [RCV002423979]|Dilated cardiomyopathy 1DD [RCV003101046] Chr10:110812485 [GRCh38]
Chr10:112572243 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1738G>A (p.Val580Met) single nucleotide variant Cardiovascular phenotype [RCV002407471] Chr10:110799856 [GRCh38]
Chr10:112559614 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2564A>T (p.Glu855Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002299956] Chr10:110820085 [GRCh38]
Chr10:112579843 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2339G>A (p.Gly780Glu) single nucleotide variant Cardiovascular phenotype [RCV002448257] Chr10:110812736 [GRCh38]
Chr10:112572494 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1994C>G (p.Ser665Cys) single nucleotide variant Cardiovascular phenotype [RCV002416961]|Dilated cardiomyopathy 1DD [RCV003495303] Chr10:110812391 [GRCh38]
Chr10:112572149 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1994C>T (p.Ser665Phe) single nucleotide variant Cardiovascular phenotype [RCV002416964]|Dilated cardiomyopathy 1DD [RCV003100990] Chr10:110812391 [GRCh38]
Chr10:112572149 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1371G>A (p.Glu457=) single nucleotide variant Cardiovascular phenotype [RCV002383708] Chr10:110784374 [GRCh38]
Chr10:112544132 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1997G>A (p.Arg666Gln) single nucleotide variant Cardiovascular phenotype [RCV002417011]|Dilated cardiomyopathy 1DD [RCV003097413] Chr10:110812394 [GRCh38]
Chr10:112572152 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.159G>C (p.Pro53=) single nucleotide variant Cardiovascular phenotype [RCV002398619] Chr10:110644613 [GRCh38]
Chr10:112404371 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.-1C>T single nucleotide variant Cardiovascular phenotype [RCV002417130] Chr10:110644454 [GRCh38]
Chr10:112404212 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3339G>A (p.Met1113Ile) single nucleotide variant Cardiovascular phenotype [RCV002326550] Chr10:110823502 [GRCh38]
Chr10:112583260 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1970C>G (p.Ser657Cys) single nucleotide variant Cardiovascular phenotype [RCV002423483] Chr10:110812367 [GRCh38]
Chr10:112572125 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1417G>A (p.Ala473Thr) single nucleotide variant Cardiovascular phenotype [RCV002391726]|Dilated cardiomyopathy 1DD [RCV003495298] Chr10:110784420 [GRCh38]
Chr10:112544178 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.141G>C (p.Pro47=) single nucleotide variant Cardiovascular phenotype [RCV002391793] Chr10:110644595 [GRCh38]
Chr10:112404353 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.705C>T (p.Ser235=) single nucleotide variant Cardiovascular phenotype [RCV002365017]|Dilated cardiomyopathy 1DD [RCV003598104] Chr10:110781314 [GRCh38]
Chr10:112541072 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.68C>G (p.Ala23Gly) single nucleotide variant Cardiovascular phenotype [RCV002378049]|Dilated cardiomyopathy 1DD [RCV005097033] Chr10:110644522 [GRCh38]
Chr10:112404280 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.124C>T (p.Gln42Ter) single nucleotide variant Cardiovascular phenotype [RCV002400714] Chr10:110644578 [GRCh38]
Chr10:112404336 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1527+1G>A single nucleotide variant Cardiovascular phenotype [RCV002392536] Chr10:110784890 [GRCh38]
Chr10:112544648 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.88C>G (p.Arg30Gly) single nucleotide variant Cardiovascular phenotype [RCV002376047] Chr10:110644542 [GRCh38]
Chr10:112404300 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1278C>T (p.Asp426=) single nucleotide variant Cardiovascular phenotype [RCV002374045]|Dilated cardiomyopathy 1DD [RCV005058570] Chr10:110783368 [GRCh38]
Chr10:112543126 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3594C>G (p.Ala1198=) single nucleotide variant Cardiovascular phenotype [RCV002339843] Chr10:110835888 [GRCh38]
Chr10:112595646 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2912A>G (p.Asn971Ser) single nucleotide variant Cardiovascular phenotype [RCV002439843] Chr10:110821531 [GRCh38]
Chr10:112581289 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3304G>T (p.Val1102Leu) single nucleotide variant Cardiomyopathy [RCV003487026]|Cardiovascular phenotype [RCV002326246] Chr10:110821923 [GRCh38]
Chr10:112581681 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1353T>C (p.Cys451=) single nucleotide variant Cardiovascular phenotype [RCV002383314] Chr10:110784356 [GRCh38]
Chr10:112544114 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2949A>G (p.Glu983=) single nucleotide variant Cardiovascular phenotype [RCV002440248] Chr10:110821568 [GRCh38]
Chr10:112581326 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.934C>T (p.Leu312=) single nucleotide variant Cardiovascular phenotype [RCV002450086]|Dilated cardiomyopathy 1DD [RCV003100150] Chr10:110781543 [GRCh38]
Chr10:112541301 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1890A>G (p.Pro630=) single nucleotide variant Cardiovascular phenotype [RCV002408011] Chr10:110812287 [GRCh38]
Chr10:112572045 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2398G>A (p.Asp800Asn) single nucleotide variant Cardiovascular phenotype [RCV002430656]|Dilated cardiomyopathy 1DD [RCV003775226] Chr10:110812795 [GRCh38]
Chr10:112572553 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2071G>A (p.Ala691Thr) single nucleotide variant Cardiovascular phenotype [RCV002422150]|not specified [RCV003331362] Chr10:110812468 [GRCh38]
Chr10:112572226 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1745A>T (p.Asn582Ile) single nucleotide variant Cardiovascular phenotype [RCV002401476]|Dilated cardiomyopathy 1DD [RCV003598121] Chr10:110799863 [GRCh38]
Chr10:112559621 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1178C>T (p.Pro393Leu) single nucleotide variant Cardiovascular phenotype [RCV002340040] Chr10:110781787 [GRCh38]
Chr10:112541545 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2450G>A (p.Gly817Asp) single nucleotide variant Cardiovascular phenotype [RCV002430696] Chr10:110812847 [GRCh38]
Chr10:112572605 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1099C>T (p.Arg367Trp) single nucleotide variant Cardiovascular phenotype [RCV002430704]|Dilated cardiomyopathy 1DD [RCV003101838] Chr10:110781708 [GRCh38]
Chr10:112541466 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2097C>T (p.Asp699=) single nucleotide variant Cardiovascular phenotype [RCV002424119]|Dilated cardiomyopathy 1DD [RCV003101052] Chr10:110812494 [GRCh38]
Chr10:112572252 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.20T>C (p.Met7Thr) single nucleotide variant Cardiovascular phenotype [RCV002424205] Chr10:110644474 [GRCh38]
Chr10:112404232 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2961T>G (p.Ala987=) single nucleotide variant Cardiovascular phenotype [RCV002441995]|Dilated cardiomyopathy 1DD [RCV003102925] Chr10:110821580 [GRCh38]
Chr10:112581338 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2264G>T (p.Arg755Leu) single nucleotide variant Cardiovascular phenotype [RCV002443795]|Dilated cardiomyopathy 1DD [RCV005058765] Chr10:110812661 [GRCh38]
Chr10:112572419 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.3190G>T (p.Asp1064Tyr) single nucleotide variant Cardiovascular phenotype [RCV002443324] Chr10:110821809 [GRCh38]
Chr10:112581567 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2535A>G (p.Thr845=) single nucleotide variant Cardiovascular phenotype [RCV002433196]|Dilated cardiomyopathy 1DD [RCV003598130] Chr10:110812932 [GRCh38]
Chr10:112572690 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1358T>C (p.Leu453Pro) single nucleotide variant Cardiovascular phenotype [RCV002383404] Chr10:110784361 [GRCh38]
Chr10:112544119 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2694G>C (p.Glu898Asp) single nucleotide variant Cardiovascular phenotype [RCV002428954]|Dilated cardiomyopathy 1DD [RCV003775340] Chr10:110821313 [GRCh38]
Chr10:112581071 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.419C>A (p.Pro140Gln) single nucleotide variant Cardiovascular phenotype [RCV002327824] Chr10:110781028 [GRCh38]
Chr10:112540786 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.508G>A (p.Ala170Thr) single nucleotide variant Cardiovascular phenotype [RCV002335925] Chr10:110781117 [GRCh38]
Chr10:112540875 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2752G>A (p.Glu918Lys) single nucleotide variant Cardiovascular phenotype [RCV002439393] Chr10:110821371 [GRCh38]
Chr10:112581129 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3201G>T (p.Lys1067Asn) single nucleotide variant Cardiovascular phenotype [RCV002322991] Chr10:110821820 [GRCh38]
Chr10:112581578 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2984T>C (p.Met995Thr) single nucleotide variant Cardiovascular phenotype [RCV002442238]|Dilated cardiomyopathy 1DD [RCV003102945] Chr10:110821603 [GRCh38]
Chr10:112581361 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.225G>C (p.Ser75=) single nucleotide variant Cardiovascular phenotype [RCV002443706] Chr10:110780834 [GRCh38]
Chr10:112540592 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1176G>A (p.Arg392=) single nucleotide variant Cardiovascular phenotype [RCV002328471]|Dilated cardiomyopathy 1DD [RCV003775899] Chr10:110781785 [GRCh38]
Chr10:112541543 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1969T>A (p.Ser657Thr) single nucleotide variant Cardiovascular phenotype [RCV002423445] Chr10:110812366 [GRCh38]
Chr10:112572124 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2920G>A (p.Ala974Thr) single nucleotide variant Cardiovascular phenotype [RCV002439960]|Dilated cardiomyopathy 1DD [RCV003495309] Chr10:110821539 [GRCh38]
Chr10:112581297 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2263C>G (p.Arg755Gly) single nucleotide variant Cardiovascular phenotype [RCV002443772] Chr10:110812660 [GRCh38]
Chr10:112572418 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.117A>G (p.Arg39=) single nucleotide variant Cardiovascular phenotype [RCV002342235] Chr10:110644571 [GRCh38]
Chr10:112404329 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3283C>T (p.Gln1095Ter) single nucleotide variant Cardiovascular phenotype [RCV002325075] Chr10:110821902 [GRCh38]
Chr10:112581660 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1779A>G (p.Arg593=) single nucleotide variant Cardiovascular phenotype [RCV002404029] Chr10:110799897 [GRCh38]
Chr10:112559655 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1020T>A (p.Pro340=) single nucleotide variant Cardiovascular phenotype [RCV002393981]|Dilated cardiomyopathy 1DD [RCV003598111] Chr10:110781629 [GRCh38]
Chr10:112541387 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.916A>G (p.Ser306Gly) single nucleotide variant Cardiovascular phenotype [RCV002378847] Chr10:110781525 [GRCh38]
Chr10:112541283 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2381G>A (p.Arg794Lys) single nucleotide variant Cardiovascular phenotype [RCV002457905]|Dilated cardiomyopathy 1DD [RCV003098841] Chr10:110812778 [GRCh38]
Chr10:112572536 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.1270T>C (p.Leu424=) single nucleotide variant Cardiovascular phenotype [RCV002376380] Chr10:110781879 [GRCh38]
Chr10:112541637 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.452G>A (p.Gly151Glu) single nucleotide variant Cardiovascular phenotype [RCV002340044] Chr10:110781061 [GRCh38]
Chr10:112540819 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1911T>G (p.Ser637Arg) single nucleotide variant Cardiovascular phenotype [RCV002410551]|Dilated cardiomyopathy 1DD [RCV003598123] Chr10:110812308 [GRCh38]
Chr10:112572066 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.975C>A (p.Phe325Leu) single nucleotide variant Cardiovascular phenotype [RCV004047642]|not provided [RCV002301045] Chr10:110781584 [GRCh38]
Chr10:112541342 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2667G>A (p.Trp889Ter) single nucleotide variant Cardiovascular phenotype [RCV002428776]|Dilated cardiomyopathy 1DD [RCV003495306] Chr10:110821286 [GRCh38]
Chr10:112581044 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.522dup (p.Ser175fs) duplication Cardiovascular phenotype [RCV002340846] Chr10:110781125..110781126 [GRCh38]
Chr10:112540883..112540884 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1879A>G (p.Arg627Gly) single nucleotide variant Cardiovascular phenotype [RCV002415251]|Dilated cardiomyopathy 1DD [RCV003598122] Chr10:110810461 [GRCh38]
Chr10:112570219 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.578C>G (p.Ala193Gly) single nucleotide variant Cardiovascular phenotype [RCV002359745] Chr10:110781187 [GRCh38]
Chr10:112540945 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1923G>A (p.Arg641=) single nucleotide variant Cardiovascular phenotype [RCV002410763]|Dilated cardiomyopathy 1DD [RCV005097837] Chr10:110812320 [GRCh38]
Chr10:112572078 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.2973T>C (p.Cys991=) single nucleotide variant Cardiovascular phenotype [RCV002442125]|Dilated cardiomyopathy 1DD [RCV003598138] Chr10:110821592 [GRCh38]
Chr10:112581350 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3269T>A (p.Ile1090Asn) single nucleotide variant Cardiovascular phenotype [RCV002445686]|Dilated cardiomyopathy 1DD [RCV005058285] Chr10:110821888 [GRCh38]
Chr10:112581646 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.159G>T (p.Pro53=) single nucleotide variant Cardiovascular phenotype [RCV002398625] Chr10:110644613 [GRCh38]
Chr10:112404371 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1671C>T (p.Ala557=) single nucleotide variant Cardiovascular phenotype [RCV002405862] Chr10:110799789 [GRCh38]
Chr10:112559547 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1603G>C (p.Val535Leu) single nucleotide variant Cardiovascular phenotype [RCV002398745]|Dilated cardiomyopathy 1DD [RCV003598118] Chr10:110797583 [GRCh38]
Chr10:112557341 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.767C>T (p.Ser256Leu) single nucleotide variant Cardiovascular phenotype [RCV002400477] Chr10:110781376 [GRCh38]
Chr10:112541134 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.192T>C (p.Asn64=) single nucleotide variant Cardiovascular phenotype [RCV002410896] Chr10:110780801 [GRCh38]
Chr10:112540559 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2051G>T (p.Arg684Met) single nucleotide variant Cardiovascular phenotype [RCV002421831] Chr10:110812448 [GRCh38]
Chr10:112572206 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.564C>T (p.Asn188=) single nucleotide variant Cardiovascular phenotype [RCV002345173] Chr10:110781173 [GRCh38]
Chr10:112540931 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1502T>G (p.Phe501Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002300467] Chr10:110784864 [GRCh38]
Chr10:112544622 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1731A>G (p.Lys577=) single nucleotide variant Cardiovascular phenotype [RCV002399185]|Dilated cardiomyopathy 1DD [RCV003774480] Chr10:110799849 [GRCh38]
Chr10:112559607 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2306A>G (p.Asp769Gly) single nucleotide variant Cardiovascular phenotype [RCV002446379]|Dilated cardiomyopathy 1DD [RCV003101724] Chr10:110812703 [GRCh38]
Chr10:112572461 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2600del (p.Gly867fs) deletion Cardiovascular phenotype [RCV002426252]|Dilated cardiomyopathy 1DD [RCV003102016] Chr10:110820119 [GRCh38]
Chr10:112579877 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2255A>G (p.Tyr752Cys) single nucleotide variant Cardiovascular phenotype [RCV002443615] Chr10:110812652 [GRCh38]
Chr10:112572410 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.843T>A (p.Asp281Glu) single nucleotide variant Cardiovascular phenotype [RCV002414366] Chr10:110781452 [GRCh38]
Chr10:112541210 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.172C>T (p.Leu58=) single nucleotide variant Cardiovascular phenotype [RCV002399167] Chr10:110644626 [GRCh38]
Chr10:112404384 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.939G>A (p.Gln313=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003015500] Chr10:110781548 [GRCh38]
Chr10:112541306 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.508G>C (p.Ala170Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002617308] Chr10:110781117 [GRCh38]
Chr10:112540875 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1669-17C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002904241] Chr10:110799770 [GRCh38]
Chr10:112559528 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1689C>T (p.Tyr563=) single nucleotide variant Cardiovascular phenotype [RCV004065283]|Dilated cardiomyopathy 1DD [RCV002994319] Chr10:110799807 [GRCh38]
Chr10:112559565 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.964C>A (p.Pro322Thr) single nucleotide variant Cardiovascular phenotype [RCV004071800]|Dilated cardiomyopathy 1DD [RCV003075201] Chr10:110781573 [GRCh38]
Chr10:112541331 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3347T>C (p.Leu1116Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003012493] Chr10:110823510 [GRCh38]
Chr10:112583268 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2574C>T (p.Gly858=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002750441] Chr10:110820095 [GRCh38]
Chr10:112579853 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3146del (p.Pro1049fs) deletion Dilated cardiomyopathy 1DD [RCV003095549]|not provided [RCV004763539] Chr10:110821762 [GRCh38]
Chr10:112581520 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1735G>T (p.Ala579Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002780108] Chr10:110799853 [GRCh38]
Chr10:112559611 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3663C>T (p.Arg1221=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002968036] Chr10:110835957 [GRCh38]
Chr10:112595715 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3649G>C (p.Gly1217Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002795033] Chr10:110835943 [GRCh38]
Chr10:112595701 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.383C>T (p.Ala128Val) single nucleotide variant Cardiovascular phenotype [RCV004103623] Chr10:110780992 [GRCh38]
Chr10:112540750 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1214T>G (p.Val405Gly) single nucleotide variant Cardiovascular phenotype [RCV004152693] Chr10:110781823 [GRCh38]
Chr10:112541581 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.438C>T (p.Pro146=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002681372] Chr10:110781047 [GRCh38]
Chr10:112540805 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2990T>C (p.Val997Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003014563] Chr10:110821609 [GRCh38]
Chr10:112581367 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1999G>A (p.Ala667Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003015576] Chr10:110812396 [GRCh38]
Chr10:112572154 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1527+15A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002907755] Chr10:110784904 [GRCh38]
Chr10:112544662 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.514dup (p.Ser172fs) duplication Dilated cardiomyopathy 1DD [RCV002771441] Chr10:110781119..110781120 [GRCh38]
Chr10:112540877..112540878 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3305T>C (p.Val1102Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003075790] Chr10:110821924 [GRCh38]
Chr10:112581682 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3275C>T (p.Thr1092Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003015708] Chr10:110821894 [GRCh38]
Chr10:112581652 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3480C>G (p.Gly1160=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002862981] Chr10:110831089 [GRCh38]
Chr10:112590847 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.723C>A (p.Gly241=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002815234] Chr10:110781332 [GRCh38]
Chr10:112541090 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.348del (p.Ala117fs) deletion Cardiovascular phenotype [RCV003164874]|not provided [RCV003152226] Chr10:110780956 [GRCh38]
Chr10:112540714 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2566C>G (p.Gln856Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002838041] Chr10:110820087 [GRCh38]
Chr10:112579845 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.475A>G (p.Ile159Val) single nucleotide variant Cardiovascular phenotype [RCV004170229] Chr10:110781084 [GRCh38]
Chr10:112540842 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1223T>C (p.Leu408Pro) single nucleotide variant Cardiovascular phenotype [RCV004070297]|Dilated cardiomyopathy 1DD [RCV003076615] Chr10:110781832 [GRCh38]
Chr10:112541590 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2577G>A (p.Met859Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002756240] Chr10:110820098 [GRCh38]
Chr10:112579856 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2758T>G (p.Phe920Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002756000] Chr10:110821377 [GRCh38]
Chr10:112581135 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1995C>T (p.Ser665=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002907753] Chr10:110812392 [GRCh38]
Chr10:112572150 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3603C>T (p.Gly1201=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003039563] Chr10:110835897 [GRCh38]
Chr10:112595655 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2849C>G (p.Thr950Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003039383] Chr10:110821468 [GRCh38]
Chr10:112581226 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.478C>T (p.Pro160Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002781353] Chr10:110781087 [GRCh38]
Chr10:112540845 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.258T>G (p.Pro86=) single nucleotide variant Cardiovascular phenotype [RCV003167774]|Dilated cardiomyopathy 1DD [RCV002800535] Chr10:110780867 [GRCh38]
Chr10:112540625 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2566C>T (p.Gln856Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002622777] Chr10:110820087 [GRCh38]
Chr10:112579845 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2126A>G (p.His709Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002785691] Chr10:110812523 [GRCh38]
Chr10:112572281 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3574-12T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002846700] Chr10:110835856 [GRCh38]
Chr10:112595614 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3421G>A (p.Asp1141Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002663023] Chr10:110823584 [GRCh38]
Chr10:112583342 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1884T>C (p.Tyr628=) single nucleotide variant Cardiovascular phenotype [RCV003161735]|Dilated cardiomyopathy 1DD [RCV003079570] Chr10:110812281 [GRCh38]
Chr10:112572039 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3126A>G (p.Thr1042=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002736552] Chr10:110821745 [GRCh38]
Chr10:112581503 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.440A>G (p.His147Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002846239] Chr10:110781049 [GRCh38]
Chr10:112540807 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.170G>A (p.Gly57Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002619238] Chr10:110644624 [GRCh38]
Chr10:112404382 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1669G>A (p.Ala557Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002619681] Chr10:110799787 [GRCh38]
Chr10:112559545 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.363C>G (p.Asn121Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002780368] Chr10:110780972 [GRCh38]
Chr10:112540730 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2368C>T (p.Leu790=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002690689] Chr10:110812765 [GRCh38]
Chr10:112572523 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2372G>A (p.Arg791Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002976274] Chr10:110812769 [GRCh38]
Chr10:112572527 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.539C>A (p.Pro180His) single nucleotide variant Cardiovascular phenotype [RCV004154248]|Dilated cardiomyopathy 1DD [RCV005059330] Chr10:110781148 [GRCh38]
Chr10:112540906 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3395T>G (p.Leu1132Arg) single nucleotide variant Cardiovascular phenotype [RCV003161991]|Dilated cardiomyopathy 1DD [RCV002637018] Chr10:110823558 [GRCh38]
Chr10:112583316 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.402C>T (p.Phe134=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002785464] Chr10:110781011 [GRCh38]
Chr10:112540769 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2858T>C (p.Leu953Ser) single nucleotide variant Cardiovascular phenotype [RCV004111489] Chr10:110821477 [GRCh38]
Chr10:112581235 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.864A>T (p.Gln288His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002886624] Chr10:110781473 [GRCh38]
Chr10:112541231 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1537C>T (p.Arg513Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002952830] Chr10:110797517 [GRCh38]
Chr10:112557275 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.559C>G (p.Pro187Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003036630] Chr10:110781168 [GRCh38]
Chr10:112540926 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2017C>A (p.Arg673=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002795411] Chr10:110812414 [GRCh38]
Chr10:112572172 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1233G>A (p.Pro411=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002949329] Chr10:110781842 [GRCh38]
Chr10:112541600 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.191+6_191+8del microsatellite Dilated cardiomyopathy 1DD [RCV002659641] Chr10:110644648..110644650 [GRCh38]
Chr10:112404406..112404408 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3087A>G (p.Ala1029=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002736796] Chr10:110821706 [GRCh38]
Chr10:112581464 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1008T>C (p.Gly336=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002846752] Chr10:110781617 [GRCh38]
Chr10:112541375 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3456G>A (p.Val1152=) single nucleotide variant Cardiovascular phenotype [RCV004985187]|Dilated cardiomyopathy 1DD [RCV003080205] Chr10:110831065 [GRCh38]
Chr10:112590823 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2399A>T (p.Asp800Val) single nucleotide variant Cardiovascular phenotype [RCV004153878]|Dilated cardiomyopathy 1DD [RCV005099768] Chr10:110812796 [GRCh38]
Chr10:112572554 [GRCh37]
Chr10:10q25.2		 benign|uncertain significance
NM_001134363.3(RBM20):c.371T>C (p.Leu124Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003055245] Chr10:110780980 [GRCh38]
Chr10:112540738 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2675A>T (p.Glu892Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002690594] Chr10:110821294 [GRCh38]
Chr10:112581052 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3622G>T (p.Ala1208Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002825007] Chr10:110835916 [GRCh38]
Chr10:112595674 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3382C>G (p.Leu1128Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002735044] Chr10:110823545 [GRCh38]
Chr10:112583303 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3296G>T (p.Cys1099Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003036072] Chr10:110821915 [GRCh38]
Chr10:112581673 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1669-13del deletion Dilated cardiomyopathy 1DD [RCV002933240] Chr10:110799773 [GRCh38]
Chr10:112559531 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3168C>G (p.Ala1056=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002829398] Chr10:110821787 [GRCh38]
Chr10:112581545 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.162C>T (p.Pro54=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002766745] Chr10:110644616 [GRCh38]
Chr10:112404374 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2199C>T (p.His733=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002701295] Chr10:110812596 [GRCh38]
Chr10:112572354 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.825A>G (p.Gln275=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002790934] Chr10:110781434 [GRCh38]
Chr10:112541192 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3071G>C (p.Cys1024Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003043119] Chr10:110821690 [GRCh38]
Chr10:112581448 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3573+14C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002710501] Chr10:110831196 [GRCh38]
Chr10:112590954 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.855C>T (p.Pro285=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002624757] Chr10:110781464 [GRCh38]
Chr10:112541222 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1855A>T (p.Arg619Trp) single nucleotide variant Cardiovascular phenotype [RCV004673723]|Dilated cardiomyopathy 1DD [RCV002791591] Chr10:110810437 [GRCh38]
Chr10:112570195 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1350G>A (p.Arg450=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002701455] Chr10:110784353 [GRCh38]
Chr10:112544111 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3316+7A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003085699] Chr10:110821942 [GRCh38]
Chr10:112581700 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2781A>T (p.Pro927=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003026119] Chr10:110821400 [GRCh38]
Chr10:112581158 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-12G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002740871] Chr10:110812266 [GRCh38]
Chr10:112572024 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3556C>T (p.His1186Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003022321] Chr10:110831165 [GRCh38]
Chr10:112590923 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2591A>G (p.Gln864Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002594287] Chr10:110820112 [GRCh38]
Chr10:112579870 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1782C>T (p.Tyr594=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002891085] Chr10:110799900 [GRCh38]
Chr10:112559658 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.747C>T (p.Gly249=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003057746] Chr10:110781356 [GRCh38]
Chr10:112541114 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.277C>T (p.Gln93Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002711297] Chr10:110780886 [GRCh38]
Chr10:112540644 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3610G>A (p.Glu1204Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003022384] Chr10:110835904 [GRCh38]
Chr10:112595662 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2655+6G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002852079] Chr10:110820182 [GRCh38]
Chr10:112579940 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.244C>T (p.Leu82=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002786747] Chr10:110780853 [GRCh38]
Chr10:112540611 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2840T>C (p.Leu947Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002957194] Chr10:110821459 [GRCh38]
Chr10:112581217 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1023A>G (p.Pro341=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002871695] Chr10:110781632 [GRCh38]
Chr10:112541390 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.103C>A (p.Pro35Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002741343] Chr10:110644557 [GRCh38]
Chr10:112404315 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3304G>A (p.Val1102Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002828187] Chr10:110821923 [GRCh38]
Chr10:112581681 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.140_145dup (p.Pro48_Gln49insProPro) duplication Dilated cardiomyopathy 1DD [RCV002666714] Chr10:110644592..110644593 [GRCh38]
Chr10:112404350..112404351 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.809C>T (p.Thr270Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002710474] Chr10:110781418 [GRCh38]
Chr10:112541176 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2672G>A (p.Ser891Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003023041] Chr10:110821291 [GRCh38]
Chr10:112581049 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1526C>G (p.Thr509Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002766010] Chr10:110784888 [GRCh38]
Chr10:112544646 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2532C>T (p.Asn844=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003085447] Chr10:110812929 [GRCh38]
Chr10:112572687 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.776G>A (p.Gly259Asp) single nucleotide variant Cardiovascular phenotype [RCV003161798]|Dilated cardiomyopathy 1DD [RCV003084609] Chr10:110781385 [GRCh38]
Chr10:112541143 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2045C>G (p.Ala682Gly) single nucleotide variant Cardiovascular phenotype [RCV003170575]|Dilated cardiomyopathy 1DD [RCV002932399] Chr10:110812442 [GRCh38]
Chr10:112572200 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.137C>A (p.Pro46Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002710814] Chr10:110644591 [GRCh38]
Chr10:112404349 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2961T>C (p.Ala987=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003082640] Chr10:110821580 [GRCh38]
Chr10:112581338 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1271T>C (p.Leu424Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002958603] Chr10:110781880 [GRCh38]
Chr10:112541638 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.120G>T (p.Gly40=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002928899] Chr10:110644574 [GRCh38]
Chr10:112404332 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.502G>A (p.Ala168Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003082543] Chr10:110781111 [GRCh38]
Chr10:112540869 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3427T>C (p.Phe1143Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003042968] Chr10:110823590 [GRCh38]
Chr10:112583348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1402G>C (p.Ala468Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003007849] Chr10:110784405 [GRCh38]
Chr10:112544163 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.365A>T (p.Gln122Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002893936] Chr10:110780974 [GRCh38]
Chr10:112540732 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1004C>G (p.Ala335Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002958579] Chr10:110781613 [GRCh38]
Chr10:112541371 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3360A>G (p.Ser1120=) single nucleotide variant Cardiovascular phenotype [RCV004983141]|Dilated cardiomyopathy 1DD [RCV002790396] Chr10:110823523 [GRCh38]
Chr10:112583281 [GRCh37]
Chr10:10q25.2		 benign|likely benign
NM_001134363.3(RBM20):c.1904C>T (p.Ser635Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002642375] Chr10:110812301 [GRCh38]
Chr10:112572059 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2378G>A (p.Ser793Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003084784] Chr10:110812775 [GRCh38]
Chr10:112572533 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2142C>A (p.His714Gln) single nucleotide variant Cardiovascular phenotype [RCV004068051]|Dilated cardiomyopathy 1DD [RCV002958311] Chr10:110812539 [GRCh38]
Chr10:112572297 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1225C>T (p.His409Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002928690] Chr10:110781834 [GRCh38]
Chr10:112541592 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1416T>G (p.Pro472=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002642838] Chr10:110784419 [GRCh38]
Chr10:112544177 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3220G>T (p.Asp1074Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002720537] Chr10:110821839 [GRCh38]
Chr10:112581597 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.914A>C (p.Lys305Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003063860] Chr10:110781523 [GRCh38]
Chr10:112541281 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1985C>T (p.Pro662Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003090741] Chr10:110812382 [GRCh38]
Chr10:112572140 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2002G>A (p.Asp668Asn) single nucleotide variant Cardiovascular phenotype [RCV004983006]|Dilated cardiomyopathy 1DD [RCV002576753] Chr10:110812399 [GRCh38]
Chr10:112572157 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1292_1293del (p.Val431fs) microsatellite Dilated cardiomyopathy 1DD [RCV002632777] Chr10:110783380..110783381 [GRCh38]
Chr10:112543138..112543139 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1221C>T (p.Pro407=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002770742] Chr10:110781830 [GRCh38]
Chr10:112541588 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2176C>G (p.Arg726Gly) single nucleotide variant Cardiovascular phenotype [RCV004073195]|Dilated cardiomyopathy 1DD [RCV003086444] Chr10:110812573 [GRCh38]
Chr10:112572331 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.593C>A (p.Pro198His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002812159] Chr10:110781202 [GRCh38]
Chr10:112540960 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2754A>C (p.Glu918Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002581902] Chr10:110821373 [GRCh38]
Chr10:112581131 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1878C>T (p.Asp626=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002900347] Chr10:110810460 [GRCh38]
Chr10:112570218 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2917G>T (p.Ala973Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003086095] Chr10:110821536 [GRCh38]
Chr10:112581294 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2067C>A (p.Asp689Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002715065] Chr10:110812464 [GRCh38]
Chr10:112572222 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1959C>T (p.Thr653=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002715340] Chr10:110812356 [GRCh38]
Chr10:112572114 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2970C>T (p.Ser990=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002962802] Chr10:110821589 [GRCh38]
Chr10:112581347 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3505T>C (p.Phe1169Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003086402] Chr10:110831114 [GRCh38]
Chr10:112590872 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2396A>G (p.Asp799Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002628268] Chr10:110812793 [GRCh38]
Chr10:112572551 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2320CAG[2] (p.Gln776del) microsatellite Dilated cardiomyopathy 1DD [RCV003029272] Chr10:110812715..110812717 [GRCh38]
Chr10:112572473..112572475 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3056T>G (p.Leu1019Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002599689] Chr10:110821675 [GRCh38]
Chr10:112581433 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1075_1076del (p.Arg359fs) deletion Dilated cardiomyopathy 1DD [RCV002899066] Chr10:110781684..110781685 [GRCh38]
Chr10:112541442..112541443 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.633A>G (p.Ala211=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003027039] Chr10:110781242 [GRCh38]
Chr10:112541000 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3425T>C (p.Val1142Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003047767] Chr10:110823588 [GRCh38]
Chr10:112583346 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3209G>A (p.Gly1070Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002770128] Chr10:110821828 [GRCh38]
Chr10:112581586 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-16T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002600836] Chr10:110820056 [GRCh38]
Chr10:112579814 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.509C>G (p.Ala170Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003090684] Chr10:110781118 [GRCh38]
Chr10:112540876 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1275+16C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002937657] Chr10:110781900 [GRCh38]
Chr10:112541658 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.69C>T (p.Ala23=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003047325] Chr10:110644523 [GRCh38]
Chr10:112404281 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.436C>T (p.Pro146Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003063547] Chr10:110781045 [GRCh38]
Chr10:112540803 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2545A>C (p.Asn849His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002715662] Chr10:110812942 [GRCh38]
Chr10:112572700 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2166G>A (p.Glu722=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003061883] Chr10:110812563 [GRCh38]
Chr10:112572321 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.98C>G (p.Pro33Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003045193] Chr10:110644552 [GRCh38]
Chr10:112404310 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1275+6T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002579427] Chr10:110781890 [GRCh38]
Chr10:112541648 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3452-17C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002650882] Chr10:110831044 [GRCh38]
Chr10:112590802 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1340C>T (p.Ala447Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002629329] Chr10:110784343 [GRCh38]
Chr10:112544101 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.20T>G (p.Met7Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002898713] Chr10:110644474 [GRCh38]
Chr10:112404232 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3231T>C (p.Cys1077=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003086208] Chr10:110821850 [GRCh38]
Chr10:112581608 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.873T>C (p.His291=) single nucleotide variant Cardiovascular phenotype [RCV003294471]|Dilated cardiomyopathy 1DD [RCV003090919] Chr10:110781482 [GRCh38]
Chr10:112541240 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3137T>G (p.Met1046Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003028717] Chr10:110821756 [GRCh38]
Chr10:112581514 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1992C>A (p.Pro664=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002922157] Chr10:110812389 [GRCh38]
Chr10:112572147 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3532A>G (p.Met1178Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003028374] Chr10:110831141 [GRCh38]
Chr10:112590899 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3387A>G (p.Lys1129=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003088260] Chr10:110823550 [GRCh38]
Chr10:112583308 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1148A>C (p.Lys383Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002579994] Chr10:110781757 [GRCh38]
Chr10:112541515 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1275+9T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV003091221] Chr10:110781893 [GRCh38]
Chr10:112541651 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1338-12C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV002654537] Chr10:110784329 [GRCh38]
Chr10:112544087 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1275+17A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002654623] Chr10:110781901 [GRCh38]
Chr10:112541659 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-4T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002654640] Chr10:110820068 [GRCh38]
Chr10:112579826 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2427A>G (p.Pro809=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002653645] Chr10:110812824 [GRCh38]
Chr10:112572582 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1470A>G (p.Pro490=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002605936] Chr10:110784832 [GRCh38]
Chr10:112544590 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3579T>C (p.Tyr1193=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002582228] Chr10:110835873 [GRCh38]
Chr10:112595631 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2738A>T (p.Glu913Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003049556] Chr10:110821357 [GRCh38]
Chr10:112581115 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.3442A>G (p.Ile1148Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003049787] Chr10:110823605 [GRCh38]
Chr10:112583363 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3624A>G (p.Ala1208=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002676814] Chr10:110835918 [GRCh38]
Chr10:112595676 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.991C>T (p.Pro331Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003032259] Chr10:110781600 [GRCh38]
Chr10:112541358 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.121A>T (p.Met41Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003092527] Chr10:110644575 [GRCh38]
Chr10:112404333 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2550+19C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV002633602] Chr10:110812966 [GRCh38]
Chr10:112572724 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2520T>C (p.Asp840=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002605111] Chr10:110812917 [GRCh38]
Chr10:112572675 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.181A>G (p.Ile61Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002726137] Chr10:110644635 [GRCh38]
Chr10:112404393 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2551-3A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003071769] Chr10:110820069 [GRCh38]
Chr10:112579827 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.907G>A (p.Gly303Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002607673] Chr10:110781516 [GRCh38]
Chr10:112541274 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3573+8T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002607690] Chr10:110831190 [GRCh38]
Chr10:112590948 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2370G>A (p.Leu790=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002604507] Chr10:110812767 [GRCh38]
Chr10:112572525 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1367C>T (p.Ala456Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003052571] Chr10:110784370 [GRCh38]
Chr10:112544128 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.929C>T (p.Pro310Leu) single nucleotide variant Cardiovascular phenotype [RCV003308356]|Dilated cardiomyopathy 1DD [RCV002942597]|not provided [RCV005059089] Chr10:110781538 [GRCh38]
Chr10:112541296 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1144G>T (p.Ala382Ser) single nucleotide variant Cardiovascular phenotype [RCV003340647]|Dilated cardiomyopathy 1DD [RCV002655061] Chr10:110781753 [GRCh38]
Chr10:112541511 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.257C>T (p.Pro86Leu) single nucleotide variant Cardiovascular phenotype [RCV003294487]|Dilated cardiomyopathy 1DD [RCV003073222] Chr10:110780866 [GRCh38]
Chr10:112540624 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1001C>T (p.Thr334Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003068095] Chr10:110781610 [GRCh38]
Chr10:112541368 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+10A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV002610825] Chr10:110823624 [GRCh38]
Chr10:112583382 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-14C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV002587401] Chr10:110820058 [GRCh38]
Chr10:112579816 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.603G>A (p.Gly201=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002611480] Chr10:110781212 [GRCh38]
Chr10:112540970 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.134C>G (p.Pro45Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003069788] Chr10:110644588 [GRCh38]
Chr10:112404346 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1596G>A (p.Glu532=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002611798] Chr10:110797576 [GRCh38]
Chr10:112557334 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3172C>A (p.Gln1058Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002612248] Chr10:110821791 [GRCh38]
Chr10:112581549 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3240C>T (p.Ser1080=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003070708] Chr10:110821859 [GRCh38]
Chr10:112581617 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2692G>C (p.Glu898Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV002676806] Chr10:110821311 [GRCh38]
Chr10:112581069 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.369C>A (p.Val123=) single nucleotide variant Cardiovascular phenotype [RCV003171139] Chr10:110780978 [GRCh38]
Chr10:112540736 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1603G>T (p.Val535Phe) single nucleotide variant Cardiovascular phenotype [RCV003171144] Chr10:110797583 [GRCh38]
Chr10:112557341 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2719G>T (p.Glu907Ter) single nucleotide variant Cardiovascular phenotype [RCV003187101] Chr10:110821338 [GRCh38]
Chr10:112581096 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3488G>A (p.Cys1163Tyr) single nucleotide variant Cardiovascular phenotype [RCV003187102] Chr10:110831097 [GRCh38]
Chr10:112590855 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1766G>T (p.Arg589Leu) single nucleotide variant Cardiovascular phenotype [RCV003187090] Chr10:110799884 [GRCh38]
Chr10:112559642 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3485A>G (p.Tyr1162Cys) single nucleotide variant Cardiovascular phenotype [RCV003187091] Chr10:110831094 [GRCh38]
Chr10:112590852 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.120G>A (p.Gly40=) single nucleotide variant Cardiovascular phenotype [RCV003187092] Chr10:110644574 [GRCh38]
Chr10:112404332 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3019G>A (p.Glu1007Lys) single nucleotide variant Cardiovascular phenotype [RCV003187093]|Dilated cardiomyopathy 1DD [RCV003778979] Chr10:110821638 [GRCh38]
Chr10:112581396 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1727A>G (p.Glu576Gly) single nucleotide variant Cardiovascular phenotype [RCV003187094]|Dilated cardiomyopathy 1DD [RCV003598151] Chr10:110799845 [GRCh38]
Chr10:112559603 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2395G>T (p.Asp799Tyr) single nucleotide variant Cardiovascular phenotype [RCV003187095] Chr10:110812792 [GRCh38]
Chr10:112572550 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2396A>T (p.Asp799Val) single nucleotide variant Cardiovascular phenotype [RCV003187096] Chr10:110812793 [GRCh38]
Chr10:112572551 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1060G>C (p.Glu354Gln) single nucleotide variant Cardiovascular phenotype [RCV003187097] Chr10:110781669 [GRCh38]
Chr10:112541427 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.351C>G (p.Ala117=) single nucleotide variant Cardiovascular phenotype [RCV003187098]|Dilated cardiomyopathy 1DD [RCV003495318] Chr10:110780960 [GRCh38]
Chr10:112540718 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.380T>C (p.Val127Ala) single nucleotide variant Cardiovascular phenotype [RCV003187099] Chr10:110780989 [GRCh38]
Chr10:112540747 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.317C>T (p.Ala106Val) single nucleotide variant Cardiovascular phenotype [RCV003187100]|Dilated cardiomyopathy 1DD [RCV005101037] Chr10:110780926 [GRCh38]
Chr10:112540684 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2944A>G (p.Arg982Gly) single nucleotide variant not provided [RCV003219020] Chr10:110821563 [GRCh38]
Chr10:112581321 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3440G>A (p.Ser1147Asn) single nucleotide variant not provided [RCV003219115] Chr10:110823603 [GRCh38]
Chr10:112583361 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.80C>A (p.Pro27His) single nucleotide variant Cardiovascular phenotype [RCV003213755]|Dilated cardiomyopathy 1DD [RCV005101383] Chr10:110644534 [GRCh38]
Chr10:112404292 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.817G>C (p.Asp273His) single nucleotide variant not provided [RCV003229239] Chr10:110781426 [GRCh38]
Chr10:112541184 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.458C>T (p.Pro153Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003135215] Chr10:110781067 [GRCh38]
Chr10:112540825 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2843G>A (p.Cys948Tyr) single nucleotide variant Cardiovascular phenotype [RCV003171131] Chr10:110821462 [GRCh38]
Chr10:112581220 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3566A>T (p.Asn1189Ile) single nucleotide variant Cardiovascular phenotype [RCV003171132] Chr10:110831175 [GRCh38]
Chr10:112590933 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1357C>G (p.Leu453Val) single nucleotide variant Cardiovascular phenotype [RCV003171134] Chr10:110784360 [GRCh38]
Chr10:112544118 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.820G>A (p.Gly274Ser) single nucleotide variant Cardiovascular phenotype [RCV003171135] Chr10:110781429 [GRCh38]
Chr10:112541187 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1866C>G (p.Phe622Leu) single nucleotide variant Cardiovascular phenotype [RCV003171138] Chr10:110810448 [GRCh38]
Chr10:112570206 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2216G>T (p.Arg739Ile) single nucleotide variant Cardiovascular phenotype [RCV003171140] Chr10:110812613 [GRCh38]
Chr10:112572371 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.556C>T (p.Leu186Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003142700] Chr10:110781165 [GRCh38]
Chr10:112540923 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1487A>T (p.Gln496Leu) single nucleotide variant Cardiovascular phenotype [RCV003171141] Chr10:110784849 [GRCh38]
Chr10:112544607 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2513C>A (p.Ala838Asp) single nucleotide variant Cardiovascular phenotype [RCV003171142] Chr10:110812910 [GRCh38]
Chr10:112572668 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1207C>T (p.His403Tyr) single nucleotide variant Cardiovascular phenotype [RCV004277714] Chr10:110781816 [GRCh38]
Chr10:112541574 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1881-2A>G single nucleotide variant Cardiovascular phenotype [RCV003187087]|Dilated cardiomyopathy 1DD [RCV005101036] Chr10:110812276 [GRCh38]
Chr10:112572034 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3088A>C (p.Lys1030Gln) single nucleotide variant Cardiovascular phenotype [RCV003187089] Chr10:110821707 [GRCh38]
Chr10:112581465 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.980G>A (p.Gly327Asp) single nucleotide variant Cardiovascular phenotype [RCV004262024]|Dilated cardiomyopathy 1DD [RCV003598162] Chr10:110781589 [GRCh38]
Chr10:112541347 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.517C>T (p.Pro173Ser) single nucleotide variant not provided [RCV003323074] Chr10:110781126 [GRCh38]
Chr10:112540884 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143) copy number loss Distal 10q deletion syndrome [RCV003319583] Chr10:12829206..135427143 [GRCh37]
Chr10:10p13-q26.3		 pathogenic
NM_001134363.3(RBM20):c.1338-9C>G single nucleotide variant not specified [RCV003324422] Chr10:110784332 [GRCh38]
Chr10:112544090 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2704C>A (p.Pro902Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003328083] Chr10:110821323 [GRCh38]
Chr10:112581081 [GRCh37]
Chr10:10q25.2		 conflicting interpretations of pathogenicity|uncertain significance
NM_001134363.3(RBM20):c.166G>A (p.Ala56Thr) single nucleotide variant not provided [RCV003324955] Chr10:110644620 [GRCh38]
Chr10:112404378 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143) copy number gain Distal trisomy 10q [RCV003319593] Chr10:11138692..135427143 [GRCh37]
Chr10:10p14-q26.3		 pathogenic
GRCh37/hg19 10q25.2(chr10:112021329-113054313)x3 copy number gain RASopathy [RCV003329544] Chr10:112021329..113054313 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1490C>A (p.Ser497Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598169]|not provided [RCV003334124] Chr10:110784852 [GRCh38]
Chr10:112544610 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.336C>T (p.Asn112=) single nucleotide variant not provided [RCV003332715] Chr10:110780945 [GRCh38]
Chr10:112540703 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.160C>T (p.Pro54Ser) single nucleotide variant Cardiovascular phenotype [RCV003382057] Chr10:110644614 [GRCh38]
Chr10:112404372 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1912C>G (p.Pro638Ala) single nucleotide variant Cardiovascular phenotype [RCV003382059] Chr10:110812309 [GRCh38]
Chr10:112572067 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2718G>A (p.Glu906=) single nucleotide variant Cardiovascular phenotype [RCV003382060] Chr10:110821337 [GRCh38]
Chr10:112581095 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1695A>G (p.Glu565=) single nucleotide variant Cardiovascular phenotype [RCV003382062]|Dilated cardiomyopathy 1DD [RCV003778142] Chr10:110799813 [GRCh38]
Chr10:112559571 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1861A>G (p.Met621Val) single nucleotide variant Cardiovascular phenotype [RCV004366007] Chr10:110810443 [GRCh38]
Chr10:112570201 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1118A>G (p.Gln373Arg) single nucleotide variant Cardiovascular phenotype [RCV003382055] Chr10:110781727 [GRCh38]
Chr10:112541485 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1096G>T (p.Gly366Cys) single nucleotide variant Cardiovascular phenotype [RCV003382056] Chr10:110781705 [GRCh38]
Chr10:112541463 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3381A>G (p.Glu1127=) single nucleotide variant Cardiovascular phenotype [RCV003382061] Chr10:110823544 [GRCh38]
Chr10:112583302 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1831C>T (p.Gln611Ter) single nucleotide variant Cardiovascular phenotype [RCV003382054] Chr10:110810413 [GRCh38]
Chr10:112570171 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.632C>T (p.Ala211Val) single nucleotide variant Cardiovascular phenotype [RCV003382058] Chr10:110781241 [GRCh38]
Chr10:112540999 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3 copy number gain Distal trisomy 10q [RCV003458955] Chr10:111378692..135427143 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_001134363.3(RBM20):c.3441C>T (p.Ser1147=) single nucleotide variant Cardiomyopathy [RCV003487259] Chr10:110823604 [GRCh38]
Chr10:112583362 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1338-4C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003880115] Chr10:110784337 [GRCh38]
Chr10:112544095 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1400C>T (p.Thr467Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003873583] Chr10:110784403 [GRCh38]
Chr10:112544161 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.332C>T (p.Thr111Ile) single nucleotide variant Cardiovascular phenotype [RCV004661807]|Dilated cardiomyopathy 1DD [RCV003873542] Chr10:110780941 [GRCh38]
Chr10:112540699 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2453C>A (p.Ala818Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003873789] Chr10:110812850 [GRCh38]
Chr10:112572608 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.602G>C (p.Gly201Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003875760] Chr10:110781211 [GRCh38]
Chr10:112540969 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3 copy number gain not provided [RCV003484817] Chr10:111447991..133435388 [GRCh37]
Chr10:10q25.1-26.3		 pathogenic
NM_001134363.3(RBM20):c.1694A>G (p.Glu565Gly) single nucleotide variant not provided [RCV003481992] Chr10:110799812 [GRCh38]
Chr10:112559570 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2806G>T (p.Asp936Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005100297]|not provided [RCV003481993] Chr10:110821425 [GRCh38]
Chr10:112581183 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.284A>G (p.Gln95Arg) single nucleotide variant not provided [RCV004786123] Chr10:110780893 [GRCh38]
Chr10:112540651 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3473G>C (p.Arg1158Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495336]|RBM20-related disorder [RCV003402885] Chr10:110831082 [GRCh38]
Chr10:112590840 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1907_1909delinsTTG (p.Arg636_Ser637delinsLeuGly) indel Cardiomyopathy [RCV003487255] Chr10:110812304..110812306 [GRCh38]
Chr10:112572062..112572064 [GRCh37]
Chr10:10q25.2		 pathogenic
NM_001134363.3(RBM20):c.928_935dup (p.Gln313fs) duplication Cardiomyopathy [RCV003487260] Chr10:110781536..110781537 [GRCh38]
Chr10:112541294..112541295 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3560A>G (p.Tyr1187Cys) single nucleotide variant not provided [RCV003422879] Chr10:110831169 [GRCh38]
Chr10:112590927 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1432T>G (p.Tyr478Asp) single nucleotide variant not provided [RCV003422878] Chr10:110784794 [GRCh38]
Chr10:112544552 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.509C>A (p.Ala170Asp) single nucleotide variant RBM20-related disorder [RCV003416733] Chr10:110781118 [GRCh38]
Chr10:112540876 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1177C>A (p.Pro393Thr) single nucleotide variant not provided [RCV003442474] Chr10:110781786 [GRCh38]
Chr10:112541544 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2655+18T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003877636] Chr10:110820194 [GRCh38]
Chr10:112579952 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3452-11T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598790] Chr10:110831050 [GRCh38]
Chr10:112590808 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1305G>A (p.Leu435=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598910] Chr10:110783395 [GRCh38]
Chr10:112543153 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1339G>A (p.Ala447Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598766] Chr10:110784342 [GRCh38]
Chr10:112544100 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1740G>C (p.Val580=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495896] Chr10:110799858 [GRCh38]
Chr10:112559616 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1337+8C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597485] Chr10:110783435 [GRCh38]
Chr10:112543193 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2315T>C (p.Leu772Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599061] Chr10:110812712 [GRCh38]
Chr10:112572470 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.549C>T (p.Ser183=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599135] Chr10:110781158 [GRCh38]
Chr10:112540916 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3646A>G (p.Ser1216Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597731] Chr10:110835940 [GRCh38]
Chr10:112595698 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1728A>G (p.Glu576=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599297] Chr10:110799846 [GRCh38]
Chr10:112559604 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1528-13T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494631] Chr10:110797495 [GRCh38]
Chr10:112557253 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2367G>A (p.Arg789=) single nucleotide variant Cardiovascular phenotype [RCV004661735]|Dilated cardiomyopathy 1DD [RCV003597740] Chr10:110812764 [GRCh38]
Chr10:112572522 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.137_145dup (p.Pro48_Gln49insProProPro) duplication Dilated cardiomyopathy 1DD [RCV003599195] Chr10:110644589..110644590 [GRCh38]
Chr10:112404347..112404348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.174A>G (p.Leu58=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597832] Chr10:110644628 [GRCh38]
Chr10:112404386 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3585C>T (p.Ser1195=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597859] Chr10:110835879 [GRCh38]
Chr10:112595637 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3452-14C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599322] Chr10:110831047 [GRCh38]
Chr10:112590805 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2336C>T (p.Pro779Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494674] Chr10:110812733 [GRCh38]
Chr10:112572491 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.900G>T (p.Gln300His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597853] Chr10:110781509 [GRCh38]
Chr10:112541267 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3359C>T (p.Ser1120Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597916] Chr10:110823522 [GRCh38]
Chr10:112583280 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.995A>T (p.Asp332Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494874] Chr10:110781604 [GRCh38]
Chr10:112541362 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.2188G>A (p.Gly730Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598180] Chr10:110812585 [GRCh38]
Chr10:112572343 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1659G>T (p.Ser553=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598215] Chr10:110797639 [GRCh38]
Chr10:112557397 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.453G>C (p.Gly151=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598222] Chr10:110781062 [GRCh38]
Chr10:112540820 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.81T>C (p.Pro27=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598229] Chr10:110644535 [GRCh38]
Chr10:112404293 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.956G>A (p.Trp319Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494976] Chr10:110781565 [GRCh38]
Chr10:112541323 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3166G>C (p.Ala1056Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496497] Chr10:110821785 [GRCh38]
Chr10:112581543 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1825A>G (p.Ile609Val) single nucleotide variant Cardiovascular phenotype [RCV004371570]|Dilated cardiomyopathy 1DD [RCV003598355] Chr10:110810407 [GRCh38]
Chr10:112570165 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.103C>T (p.Pro35Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598361] Chr10:110644557 [GRCh38]
Chr10:112404315 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3288C>T (p.Asn1096=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598470] Chr10:110821907 [GRCh38]
Chr10:112581665 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1012A>G (p.Met338Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598615] Chr10:110781621 [GRCh38]
Chr10:112541379 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.544C>T (p.Pro182Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598618] Chr10:110781153 [GRCh38]
Chr10:112540911 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1668+7C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496763] Chr10:110797655 [GRCh38]
Chr10:112557413 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2288A>G (p.Glu763Gly) single nucleotide variant Cardiovascular phenotype [RCV004374199]|Dilated cardiomyopathy 1DD [RCV003598579] Chr10:110812685 [GRCh38]
Chr10:112572443 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1527+19T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599816] Chr10:110784908 [GRCh38]
Chr10:112544666 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.260C>T (p.Ala87Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599389] Chr10:110780869 [GRCh38]
Chr10:112540627 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1276-3T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494758] Chr10:110783363 [GRCh38]
Chr10:112543121 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.138G>T (p.Pro46=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495606] Chr10:110644592 [GRCh38]
Chr10:112404350 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1669-16T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598841] Chr10:110799771 [GRCh38]
Chr10:112559529 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3014A>G (p.Asp1005Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494784] Chr10:110821633 [GRCh38]
Chr10:112581391 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1669-3T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598850] Chr10:110799784 [GRCh38]
Chr10:112559542 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.719A>G (p.Tyr240Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598935] Chr10:110781328 [GRCh38]
Chr10:112541086 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2119T>C (p.Trp707Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599544] Chr10:110812516 [GRCh38]
Chr10:112572274 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2435C>T (p.Thr812Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494884] Chr10:110812832 [GRCh38]
Chr10:112572590 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3476C>A (p.Thr1159Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598210] Chr10:110831085 [GRCh38]
Chr10:112590843 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.851G>A (p.Gly284Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599554] Chr10:110781460 [GRCh38]
Chr10:112541218 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1728A>C (p.Glu576Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003829936] Chr10:110799846 [GRCh38]
Chr10:112559604 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2284A>G (p.Lys762Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495788] Chr10:110812681 [GRCh38]
Chr10:112572439 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1644C>T (p.Tyr548=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598245] Chr10:110797624 [GRCh38]
Chr10:112557382 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2981A>T (p.Asp994Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599798] Chr10:110821600 [GRCh38]
Chr10:112581358 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1711G>T (p.Val571Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599822] Chr10:110799829 [GRCh38]
Chr10:112559587 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1723C>T (p.Gln575Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495841] Chr10:110799841 [GRCh38]
Chr10:112559599 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1531G>T (p.Ala511Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003881210] Chr10:110797511 [GRCh38]
Chr10:112557269 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1801-15C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598316] Chr10:110810368 [GRCh38]
Chr10:112570126 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1277A>T (p.Asp426Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599059] Chr10:110783367 [GRCh38]
Chr10:112543125 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2839C>T (p.Leu947=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598305] Chr10:110821458 [GRCh38]
Chr10:112581216 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.183C>T (p.Ile61=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598352] Chr10:110644637 [GRCh38]
Chr10:112404395 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.309G>A (p.Leu103=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599122] Chr10:110780918 [GRCh38]
Chr10:112540676 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.191del (p.Asn64fs) deletion Dilated cardiomyopathy 1DD [RCV003495945] Chr10:110644642 [GRCh38]
Chr10:112404400 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2100G>A (p.Lys700=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003877741] Chr10:110812497 [GRCh38]
Chr10:112572255 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3455T>G (p.Val1152Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597625] Chr10:110831064 [GRCh38]
Chr10:112590822 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2466G>A (p.Gln822=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599213] Chr10:110812863 [GRCh38]
Chr10:112572621 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3132G>A (p.Gln1044=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599781] Chr10:110821751 [GRCh38]
Chr10:112581509 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3145C>T (p.Pro1049Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597658] Chr10:110821764 [GRCh38]
Chr10:112581522 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3011T>G (p.Leu1004Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599262] Chr10:110821630 [GRCh38]
Chr10:112581388 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.130C>A (p.Pro44Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496054] Chr10:110644584 [GRCh38]
Chr10:112404342 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3667G>A (p.Glu1223Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496623] Chr10:110835961 [GRCh38]
Chr10:112595719 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1007G>A (p.Gly336Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597721] Chr10:110781616 [GRCh38]
Chr10:112541374 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3480del (p.Tyr1162fs) deletion Dilated cardiomyopathy 1DD [RCV003495447] Chr10:110831089 [GRCh38]
Chr10:112590847 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1880+14_1880+20del microsatellite Dilated cardiomyopathy 1DD [RCV003598657] Chr10:110810468..110810474 [GRCh38]
Chr10:112570226..112570232 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.365A>C (p.Gln122Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495503] Chr10:110780974 [GRCh38]
Chr10:112540732 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.131C>G (p.Pro44Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496142] Chr10:110644585 [GRCh38]
Chr10:112404343 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+9A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597867] Chr10:110823623 [GRCh38]
Chr10:112583381 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1571A>G (p.Asn524Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598707] Chr10:110797551 [GRCh38]
Chr10:112557309 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.639C>G (p.Ile213Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598719] Chr10:110781248 [GRCh38]
Chr10:112541006 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.155C>T (p.Pro52Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598727] Chr10:110644609 [GRCh38]
Chr10:112404367 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3573+12C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597929] Chr10:110831194 [GRCh38]
Chr10:112590952 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1323G>A (p.Leu441=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598743] Chr10:110783413 [GRCh38]
Chr10:112543171 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.937C>A (p.Gln313Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598771] Chr10:110781546 [GRCh38]
Chr10:112541304 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.982C>T (p.Gln328Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597654] Chr10:110781591 [GRCh38]
Chr10:112541349 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2182G>A (p.Glu728Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496013] Chr10:110812579 [GRCh38]
Chr10:112572337 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3105A>G (p.Ser1035=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496531] Chr10:110821724 [GRCh38]
Chr10:112581482 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3212C>T (p.Thr1071Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496590] Chr10:110821831 [GRCh38]
Chr10:112581589 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3453G>T (p.Gly1151=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599757] Chr10:110831062 [GRCh38]
Chr10:112590820 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1430-9A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597797] Chr10:110784783 [GRCh38]
Chr10:112544541 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1174C>G (p.Arg392Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597913] Chr10:110781783 [GRCh38]
Chr10:112541541 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1984C>G (p.Pro662Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599806] Chr10:110812381 [GRCh38]
Chr10:112572139 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1470A>C (p.Pro490=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599826] Chr10:110784832 [GRCh38]
Chr10:112544590 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.259G>A (p.Ala87Thr) single nucleotide variant Cardiomyopathy [RCV003487257] Chr10:110780868 [GRCh38]
Chr10:112540626 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2389C>A (p.His797Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598185] Chr10:110812786 [GRCh38]
Chr10:112572544 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.520C>A (p.Pro174Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496749] Chr10:110781129 [GRCh38]
Chr10:112540887 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.99G>A (p.Pro33=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598319] Chr10:110644553 [GRCh38]
Chr10:112404311 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.192-3C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494668] Chr10:110780798 [GRCh38]
Chr10:112540556 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2283G>T (p.Arg761=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598400] Chr10:110812680 [GRCh38]
Chr10:112572438 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-5C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494774] Chr10:110812273 [GRCh38]
Chr10:112572031 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1668+19A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599408] Chr10:110797667 [GRCh38]
Chr10:112557425 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.194C>T (p.Ala65Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598660] Chr10:110780803 [GRCh38]
Chr10:112540561 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3316+19C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598574] Chr10:110821954 [GRCh38]
Chr10:112581712 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3189G>C (p.Val1063=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599569] Chr10:110821808 [GRCh38]
Chr10:112581566 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3367T>G (p.Tyr1123Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599583] Chr10:110823530 [GRCh38]
Chr10:112583288 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2051G>A (p.Arg684Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598703] Chr10:110812448 [GRCh38]
Chr10:112572206 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.521C>T (p.Pro174Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598708] Chr10:110781130 [GRCh38]
Chr10:112540888 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1632G>A (p.Lys544=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494947] Chr10:110797612 [GRCh38]
Chr10:112557370 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2448G>A (p.Glu816=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494968] Chr10:110812845 [GRCh38]
Chr10:112572603 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1409A>G (p.Tyr470Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496368] Chr10:110784412 [GRCh38]
Chr10:112544170 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2721G>C (p.Glu907Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495011] Chr10:110821340 [GRCh38]
Chr10:112581098 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1156C>G (p.Gln386Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597536] Chr10:110781765 [GRCh38]
Chr10:112541523 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.751C>T (p.Leu251=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597560] Chr10:110781360 [GRCh38]
Chr10:112541118 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1805C>A (p.Pro602His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599720] Chr10:110810387 [GRCh38]
Chr10:112570145 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.732A>G (p.Thr244=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598729] Chr10:110781341 [GRCh38]
Chr10:112541099 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1800+15T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599238] Chr10:110799933 [GRCh38]
Chr10:112559691 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3383dup (p.Lys1129fs) duplication Dilated cardiomyopathy 1DD [RCV003495907] Chr10:110823545..110823546 [GRCh38]
Chr10:112583303..112583304 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1280G>A (p.Trp427Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496380] Chr10:110783370 [GRCh38]
Chr10:112543128 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1528-17A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598309] Chr10:110797491 [GRCh38]
Chr10:112557249 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3451+16A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598795] Chr10:110823630 [GRCh38]
Chr10:112583388 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1107C>T (p.Asn369=) single nucleotide variant Cardiomyopathy [RCV003487254] Chr10:110781716 [GRCh38]
Chr10:112541474 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1521G>T (p.Gly507=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597796] Chr10:110784883 [GRCh38]
Chr10:112544641 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2109G>T (p.Arg703Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598822] Chr10:110812506 [GRCh38]
Chr10:112572264 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2787G>A (p.Leu929=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598844] Chr10:110821406 [GRCh38]
Chr10:112581164 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-9C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599421] Chr10:110812269 [GRCh38]
Chr10:112572027 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3562A>G (p.Arg1188Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496073] Chr10:110831171 [GRCh38]
Chr10:112590929 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1880+11A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597806] Chr10:110810473 [GRCh38]
Chr10:112570231 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3565A>G (p.Asn1189Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598754]|not provided [RCV004790600] Chr10:110831174 [GRCh38]
Chr10:112590932 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2866G>C (p.Asp956His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599502] Chr10:110821485 [GRCh38]
Chr10:112581243 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1134T>C (p.Ala378=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495755] Chr10:110781743 [GRCh38]
Chr10:112541501 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3424G>T (p.Val1142Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496138] Chr10:110823587 [GRCh38]
Chr10:112583345 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2208G>A (p.Lys736=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598405] Chr10:110812605 [GRCh38]
Chr10:112572363 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1301A>G (p.Lys434Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599514] Chr10:110783391 [GRCh38]
Chr10:112543149 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3267del (p.Ile1090fs) deletion Cardiomyopathy [RCV003487258]|Dilated cardiomyopathy 1DD [RCV003495345] Chr10:110821880 [GRCh38]
Chr10:112581638 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1792C>T (p.Gln598Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496181] Chr10:110799910 [GRCh38]
Chr10:112559668 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2550+4A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496575] Chr10:110812951 [GRCh38]
Chr10:112572709 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2053_2056del (p.Glu685fs) microsatellite Cardiomyopathy [RCV003487256] Chr10:110812445..110812448 [GRCh38]
Chr10:112572203..112572206 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3408T>C (p.Ser1136=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495983] Chr10:110823571 [GRCh38]
Chr10:112583329 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1881-15T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496518] Chr10:110812263 [GRCh38]
Chr10:112572021 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.750C>T (p.Phe250=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494871] Chr10:110781359 [GRCh38]
Chr10:112541117 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2799G>A (p.Val933=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003494893] Chr10:110821418 [GRCh38]
Chr10:112581176 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1251T>C (p.Cys417=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597476] Chr10:110781860 [GRCh38]
Chr10:112541618 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1401del (p.Ala468fs) deletion Dilated cardiomyopathy 1DD [RCV003597486] Chr10:110784404 [GRCh38]
Chr10:112544162 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2817C>G (p.Asp939Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597952] Chr10:110821436 [GRCh38]
Chr10:112581194 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.184A>G (p.Ile62Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598463] Chr10:110644638 [GRCh38]
Chr10:112404396 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2106C>G (p.Asp702Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598468] Chr10:110812503 [GRCh38]
Chr10:112572261 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3225G>T (p.Gly1075=) single nucleotide variant Cardiovascular phenotype [RCV004985552]|Dilated cardiomyopathy 1DD [RCV003598483] Chr10:110821844 [GRCh38]
Chr10:112581602 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2726T>A (p.Val909Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599006] Chr10:110821345 [GRCh38]
Chr10:112581103 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.507T>A (p.Ile169=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599292] Chr10:110781116 [GRCh38]
Chr10:112540874 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.127C>T (p.Gln43Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495368] Chr10:110644581 [GRCh38]
Chr10:112404339 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1217C>T (p.Ala406Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496235] Chr10:110781826 [GRCh38]
Chr10:112541584 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2655+19T>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597545] Chr10:110820195 [GRCh38]
Chr10:112579953 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1596G>T (p.Glu532Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003881368] Chr10:110797576 [GRCh38]
Chr10:112557334 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1276-17C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598516] Chr10:110783349 [GRCh38]
Chr10:112543107 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1900C>G (p.Arg634Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495470] Chr10:110812297 [GRCh38]
Chr10:112572055 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3056T>C (p.Leu1019Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495472] Chr10:110821675 [GRCh38]
Chr10:112581433 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3244del (p.Leu1082fs) deletion Dilated cardiomyopathy 1DD [RCV003599069] Chr10:110821859 [GRCh38]
Chr10:112581617 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2042del (p.Tyr681fs) deletion Dilated cardiomyopathy 1DD [RCV003599075] Chr10:110812439 [GRCh38]
Chr10:112572197 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.975C>T (p.Phe325=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599288] Chr10:110781584 [GRCh38]
Chr10:112541342 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2361G>C (p.Glu787Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599293] Chr10:110812758 [GRCh38]
Chr10:112572516 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1504C>G (p.Pro502Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495494] Chr10:110784866 [GRCh38]
Chr10:112544624 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1092C>A (p.Phe364Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598182] Chr10:110781701 [GRCh38]
Chr10:112541459 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1422G>A (p.Gly474=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003495586] Chr10:110784425 [GRCh38]
Chr10:112544183 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1156C>A (p.Gln386Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496756] Chr10:110781765 [GRCh38]
Chr10:112541523 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1149G>A (p.Lys383=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597655] Chr10:110781758 [GRCh38]
Chr10:112541516 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1800+7C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598238] Chr10:110799925 [GRCh38]
Chr10:112559683 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.902C>T (p.Ala301Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598577] Chr10:110781511 [GRCh38]
Chr10:112541269 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2462A>G (p.Lys821Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599341] Chr10:110812859 [GRCh38]
Chr10:112572617 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2632C>T (p.Pro878Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599348] Chr10:110820153 [GRCh38]
Chr10:112579911 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1632G>T (p.Lys544Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003876058] Chr10:110797612 [GRCh38]
Chr10:112557370 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.700G>C (p.Ala234Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003881500] Chr10:110781309 [GRCh38]
Chr10:112541067 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.503C>T (p.Ala168Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003597725] Chr10:110781112 [GRCh38]
Chr10:112540870 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3122C>G (p.Pro1041Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003599380] Chr10:110821741 [GRCh38]
Chr10:112581499 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2189G>A (p.Gly730Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598717] Chr10:110812586 [GRCh38]
Chr10:112572344 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3394C>T (p.Leu1132Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003598720] Chr10:110823557 [GRCh38]
Chr10:112583315 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.692A>G (p.Tyr231Cys) single nucleotide variant Cardiovascular phenotype [RCV004985428]|Dilated cardiomyopathy 1DD [RCV003494858] Chr10:110781301 [GRCh38]
Chr10:112541059 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2060del (p.Glu687fs) deletion Dilated cardiomyopathy 1DD [RCV003495691] Chr10:110812457 [GRCh38]
Chr10:112572215 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1946C>T (p.Thr649Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003880077] Chr10:110812343 [GRCh38]
Chr10:112572101 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1669-16T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV003497006] Chr10:110799771 [GRCh38]
Chr10:112559529 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2452G>A (p.Ala818Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003497014] Chr10:110812849 [GRCh38]
Chr10:112572607 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2740G>T (p.Val914Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496861] Chr10:110821359 [GRCh38]
Chr10:112581117 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.657T>G (p.Thr219=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496891] Chr10:110781266 [GRCh38]
Chr10:112541024 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.3280C>A (p.Leu1094Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496908] Chr10:110821899 [GRCh38]
Chr10:112581657 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1881-16C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496965] Chr10:110812262 [GRCh38]
Chr10:112572020 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2655+10del deletion Dilated cardiomyopathy 1DD [RCV005084662] Chr10:110820186 [GRCh38]
Chr10:112579944 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3574-16C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496854] Chr10:110835852 [GRCh38]
Chr10:112595610 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.122T>A (p.Met41Lys) single nucleotide variant Primary dilated cardiomyopathy [RCV003994719] Chr10:110644576 [GRCh38]
Chr10:112404334 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3482T>A (p.Phe1161Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003497168] Chr10:110831091 [GRCh38]
Chr10:112590849 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2730A>G (p.Thr910=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003497160] Chr10:110821349 [GRCh38]
Chr10:112581107 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1907G>T (p.Arg636Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003855880] Chr10:110812304 [GRCh38]
Chr10:112572062 [GRCh37]
Chr10:10q25.2		 pathogenic|likely pathogenic
NM_001134363.3(RBM20):c.636C>T (p.Val212=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496929] Chr10:110781245 [GRCh38]
Chr10:112541003 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2346C>T (p.Ser782=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003814509] Chr10:110812743 [GRCh38]
Chr10:112572501 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2627C>A (p.Ser876Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003815786] Chr10:110820148 [GRCh38]
Chr10:112579906 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3211A>G (p.Thr1071Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003851870] Chr10:110821830 [GRCh38]
Chr10:112581588 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1610A>G (p.Asn537Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003497121] Chr10:110797590 [GRCh38]
Chr10:112557348 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2938T>C (p.Ser980Pro) single nucleotide variant Cardiovascular phenotype [RCV004985413]|Dilated cardiomyopathy 1DD [RCV003497170] Chr10:110821557 [GRCh38]
Chr10:112581315 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1941C>G (p.Ser647=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496887] Chr10:110812338 [GRCh38]
Chr10:112572096 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1839C>T (p.Ile613=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003496964] Chr10:110810421 [GRCh38]
Chr10:112570179 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.698A>G (p.Lys233Arg) single nucleotide variant Cardiovascular phenotype [RCV004985400]|Dilated cardiomyopathy 1DD [RCV003496969] Chr10:110781307 [GRCh38]
Chr10:112541065 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.3316+1G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV003837782] Chr10:110821936 [GRCh38]
Chr10:112581694 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2207A>C (p.Lys736Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003837473] Chr10:110812604 [GRCh38]
Chr10:112572362 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2496T>C (p.Asp832=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003833163] Chr10:110812893 [GRCh38]
Chr10:112572651 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.857A>G (p.Asn286Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003841226] Chr10:110781466 [GRCh38]
Chr10:112541224 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3574-18C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003861531] Chr10:110835850 [GRCh38]
Chr10:112595608 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2374dup (p.Glu792fs) duplication Dilated cardiomyopathy 1DD [RCV003841596] Chr10:110812768..110812769 [GRCh38]
Chr10:112572526..112572527 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1940C>T (p.Ser647Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003822258]|not provided [RCV004723499] Chr10:110812337 [GRCh38]
Chr10:112572095 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.853C>A (p.Pro285Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003846746] Chr10:110781462 [GRCh38]
Chr10:112541220 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2950C>T (p.Leu984=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003868342] Chr10:110821569 [GRCh38]
Chr10:112581327 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.741G>T (p.Gln247His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003848438] Chr10:110781350 [GRCh38]
Chr10:112541108 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3574-10C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV003844410] Chr10:110835858 [GRCh38]
Chr10:112595616 [GRCh37]
Chr10:10q25.2		 likely benign
GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3 copy number gain not specified [RCV003986891] Chr10:107129993..123817654 [GRCh37]
Chr10:10q25.1-26.13		 likely pathogenic
NM_001134363.3(RBM20):c.454G>T (p.Val152Phe) single nucleotide variant Cardiovascular phenotype [RCV004987112]|Dilated cardiomyopathy 1DD [RCV003868495] Chr10:110781063 [GRCh38]
Chr10:112540821 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q25.2(chr10:112516278-112583094)x1 copy number loss not specified [RCV003986870] Chr10:112516278..112583094 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.1834G>A (p.Asp612Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003840931] Chr10:110810416 [GRCh38]
Chr10:112570174 [GRCh37]
Chr10:10q25.2		 uncertain significance
GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3 copy number gain not specified [RCV003986893] Chr10:95078198..135427143 [GRCh37]
Chr10:10q23.33-26.3		 pathogenic
NM_001134363.3(RBM20):c.3191A>G (p.Asp1064Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003842963] Chr10:110821810 [GRCh38]
Chr10:112581568 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1021C>G (p.Pro341Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003845454] Chr10:110781630 [GRCh38]
Chr10:112541388 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3205A>C (p.Arg1069=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003820459] Chr10:110821824 [GRCh38]
Chr10:112581582 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1097G>T (p.Gly366Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003842229] Chr10:110781706 [GRCh38]
Chr10:112541464 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1476G>A (p.Arg492=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003819819] Chr10:110784838 [GRCh38]
Chr10:112544596 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.854C>T (p.Pro285Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003858713] Chr10:110781463 [GRCh38]
Chr10:112541221 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2501A>G (p.Asp834Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003845937] Chr10:110812898 [GRCh38]
Chr10:112572656 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.606A>G (p.Val202=) single nucleotide variant Cardiovascular phenotype [RCV004987115]|Dilated cardiomyopathy 1DD [RCV003864873] Chr10:110781215 [GRCh38]
Chr10:112540973 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2679T>C (p.Ser893=) single nucleotide variant Cardiovascular phenotype [RCV004441188] Chr10:110821298 [GRCh38]
Chr10:112581056 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.499A>G (p.Asn167Asp) single nucleotide variant Cardiovascular phenotype [RCV004441189] Chr10:110781108 [GRCh38]
Chr10:112540866 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1424A>G (p.Asn475Ser) single nucleotide variant Cardiovascular phenotype [RCV004441187]|Dilated cardiomyopathy 1DD [RCV005104655] Chr10:110784427 [GRCh38]
Chr10:112544185 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.2550G>A (p.Glu850=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV003991076] Chr10:110812947 [GRCh38]
Chr10:112572705 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1210G>C (p.Gly404Arg) single nucleotide variant Cardiovascular phenotype [RCV004525785] Chr10:110781819 [GRCh38]
Chr10:112541577 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.165A>C (p.Gln55His) single nucleotide variant Cardiovascular phenotype [RCV004525789] Chr10:110644619 [GRCh38]
Chr10:112404377 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2102G>A (p.Arg701Lys) single nucleotide variant Cardiovascular phenotype [RCV004525792] Chr10:110812499 [GRCh38]
Chr10:112572257 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2493T>A (p.Thr831=) single nucleotide variant Cardiovascular phenotype [RCV004525794] Chr10:110812890 [GRCh38]
Chr10:112572648 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3133C>T (p.Gln1045Ter) single nucleotide variant Cardiovascular phenotype [RCV004525800] Chr10:110821752 [GRCh38]
Chr10:112581510 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3135A>G (p.Gln1045=) single nucleotide variant Cardiovascular phenotype [RCV004525801] Chr10:110821754 [GRCh38]
Chr10:112581512 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.36C>T (p.Asp12=) single nucleotide variant Cardiovascular phenotype [RCV004525805] Chr10:110644490 [GRCh38]
Chr10:112404248 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.472G>A (p.Ala158Thr) single nucleotide variant Cardiovascular phenotype [RCV004525806]|Dilated cardiomyopathy 1DD [RCV005100800] Chr10:110781081 [GRCh38]
Chr10:112540839 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.900G>C (p.Gln300His) single nucleotide variant Cardiovascular phenotype [RCV004525811] Chr10:110781509 [GRCh38]
Chr10:112541267 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1886G>A (p.Gly629Asp) single nucleotide variant Cardiovascular phenotype [RCV004525790] Chr10:110812283 [GRCh38]
Chr10:112572041 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2395_2396delinsTT (p.Asp799Phe) indel Cardiovascular phenotype [RCV004525793] Chr10:110812792..110812793 [GRCh38]
Chr10:112572550..112572551 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3416C>A (p.Pro1139Gln) single nucleotide variant Cardiovascular phenotype [RCV004525804] Chr10:110823579 [GRCh38]
Chr10:112583337 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.635T>C (p.Val212Ala) single nucleotide variant Cardiovascular phenotype [RCV004525808] Chr10:110781244 [GRCh38]
Chr10:112541002 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3214C>T (p.Pro1072Ser) single nucleotide variant Cardiovascular phenotype [RCV004525802] Chr10:110821833 [GRCh38]
Chr10:112581591 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.616A>T (p.Thr206Ser) single nucleotide variant Cardiovascular phenotype [RCV004525807] Chr10:110781225 [GRCh38]
Chr10:112540983 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.771C>T (p.Thr257=) single nucleotide variant Cardiovascular phenotype [RCV004525809] Chr10:110781380 [GRCh38]
Chr10:112541138 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1310C>A (p.Ala437Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV004551153] Chr10:110783400 [GRCh38]
Chr10:112543158 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2521A>G (p.Arg841Gly) single nucleotide variant Cardiovascular phenotype [RCV004525795] Chr10:110812918 [GRCh38]
Chr10:112572676 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1002dup (p.Ala335fs) duplication Dilated cardiomyopathy 1DD [RCV004595077] Chr10:110781610..110781611 [GRCh38]
Chr10:112541368..112541369 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.1186G>A (p.Ala396Thr) single nucleotide variant Cardiovascular phenotype [RCV004525784] Chr10:110781795 [GRCh38]
Chr10:112541553 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1219C>G (p.Pro407Ala) single nucleotide variant Cardiovascular phenotype [RCV004525786] Chr10:110781828 [GRCh38]
Chr10:112541586 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1437C>T (p.Ala479=) single nucleotide variant Cardiovascular phenotype [RCV004525787] Chr10:110784799 [GRCh38]
Chr10:112544557 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1980C>A (p.Ser660Arg) single nucleotide variant Cardiovascular phenotype [RCV004525791] Chr10:110812377 [GRCh38]
Chr10:112572135 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2731_2732delinsAG (p.Val911Arg) indel Cardiovascular phenotype [RCV004525796] Chr10:110821350..110821351 [GRCh38]
Chr10:112581108..112581109 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1178C>G (p.Pro393Arg) single nucleotide variant Cardiovascular phenotype [RCV004525783] Chr10:110781787 [GRCh38]
Chr10:112541545 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.147G>A (p.Gln49=) single nucleotide variant Cardiovascular phenotype [RCV004525788] Chr10:110644601 [GRCh38]
Chr10:112404359 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2732T>G (p.Val911Gly) single nucleotide variant Cardiovascular phenotype [RCV004525797] Chr10:110821351 [GRCh38]
Chr10:112581109 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2973T>A (p.Cys991Ter) single nucleotide variant Cardiovascular phenotype [RCV004525798] Chr10:110821592 [GRCh38]
Chr10:112581350 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3404C>T (p.Pro1135Leu) single nucleotide variant Cardiovascular phenotype [RCV004525803] Chr10:110823567 [GRCh38]
Chr10:112583325 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.895G>C (p.Glu299Gln) single nucleotide variant Cardiovascular phenotype [RCV004525810] Chr10:110781504 [GRCh38]
Chr10:112541262 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112590799)_(112590960_?)del deletion Dilated cardiomyopathy 1DD [RCV004581660] Chr10:112590799..112590960 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112570121)_(112570240_?)del deletion Dilated cardiomyopathy 1DD [RCV004581662] Chr10:112570121..112570240 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112590799)_(112595736_?)del deletion Dilated cardiomyopathy 1DD [RCV004581664] Chr10:112590799..112595736 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112570121)_(112583392_?)del deletion Dilated cardiomyopathy 1DD [RCV004581665] Chr10:112570121..112583392 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112540539)_(112837073_?)del deletion RASopathy [RCV004581687] Chr10:112540539..112837073 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(?_112579810)_(112583392_?)del deletion Dilated cardiomyopathy 1DD [RCV004581663] Chr10:112579810..112583392 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.419del (p.Pro140fs) deletion Dilated cardiomyopathy 1DD [RCV004595070] Chr10:110781027 [GRCh38]
Chr10:112540785 [GRCh37]
Chr10:10q25.2		 likely pathogenic
GRCh37/hg19 10q25.2(chr10:112516279-112583094)x1 copy number loss not specified [RCV004698449] Chr10:112516279..112583094 [GRCh37]
Chr10:10q25.2		 uncertain significance
NC_000010.10:g.(112404404_112540558)_(112599227_?)dup duplication not specified [RCV004691026] Chr10:112540558..112599227 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2586C>T (p.Ser862=) single nucleotide variant Cardiovascular phenotype [RCV004660817] Chr10:110820107 [GRCh38]
Chr10:112579865 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3533T>C (p.Met1178Thr) single nucleotide variant Cardiovascular phenotype [RCV004660815] Chr10:110831142 [GRCh38]
Chr10:112590900 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.323C>T (p.Thr108Ile) single nucleotide variant Cardiovascular phenotype [RCV004660811]|Dilated cardiomyopathy 1DD [RCV005103408] Chr10:110780932 [GRCh38]
Chr10:112540690 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.114G>A (p.Pro38=) single nucleotide variant Cardiovascular phenotype [RCV004660809] Chr10:110644568 [GRCh38]
Chr10:112404326 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.88C>T (p.Arg30Trp) single nucleotide variant not provided [RCV004698012] Chr10:110644542 [GRCh38]
Chr10:112404300 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.967dup (p.His323fs) duplication not provided [RCV004698013] Chr10:110781571..110781572 [GRCh38]
Chr10:112541329..112541330 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.158C>T (p.Pro53Leu) single nucleotide variant Cardiovascular phenotype [RCV004660818] Chr10:110644612 [GRCh38]
Chr10:112404370 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3256G>A (p.Ala1086Thr) single nucleotide variant Cardiovascular phenotype [RCV004660812]|Dilated cardiomyopathy 1DD [RCV005103409] Chr10:110821875 [GRCh38]
Chr10:112581633 [GRCh37]
Chr10:10q25.2		 likely benign|uncertain significance
NM_001134363.3(RBM20):c.1419T>C (p.Ala473=) single nucleotide variant Cardiovascular phenotype [RCV004660806] Chr10:110784422 [GRCh38]
Chr10:112544180 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1639A>G (p.Asn547Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV004595074] Chr10:110797619 [GRCh38]
Chr10:112557377 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1651A>G (p.Met551Val) single nucleotide variant not provided [RCV004697440] Chr10:110797631 [GRCh38]
Chr10:112557389 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3100A>T (p.Ser1034Cys) single nucleotide variant Cardiovascular phenotype [RCV004660813] Chr10:110821719 [GRCh38]
Chr10:112581477 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2990T>G (p.Val997Gly) single nucleotide variant Cardiovascular phenotype [RCV004660804]|Dilated cardiomyopathy 1DD [RCV005103407] Chr10:110821609 [GRCh38]
Chr10:112581367 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.267C>G (p.Leu89=) single nucleotide variant Cardiovascular phenotype [RCV004671700] Chr10:110780876 [GRCh38]
Chr10:112540634 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2254T>C (p.Tyr752His) single nucleotide variant Cardiovascular phenotype [RCV004671701] Chr10:110812651 [GRCh38]
Chr10:112572409 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.104C>A (p.Pro35His) single nucleotide variant Cardiovascular phenotype [RCV004671703] Chr10:110644558 [GRCh38]
Chr10:112404316 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3099_3100delinsAT (p.Ser1034Cys) indel Cardiovascular phenotype [RCV004671704] Chr10:110821718..110821719 [GRCh38]
Chr10:112581476..112581477 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1370A>G (p.Glu457Gly) single nucleotide variant Cardiovascular phenotype [RCV004671705] Chr10:110784373 [GRCh38]
Chr10:112544131 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.148C>T (p.Pro50Ser) single nucleotide variant Cardiovascular phenotype [RCV004671706] Chr10:110644602 [GRCh38]
Chr10:112404360 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.325G>A (p.Ala109Thr) single nucleotide variant Cardiovascular phenotype [RCV004671708] Chr10:110780934 [GRCh38]
Chr10:112540692 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.971G>T (p.Gly324Val) single nucleotide variant Cardiovascular phenotype [RCV004660814] Chr10:110781580 [GRCh38]
Chr10:112541338 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1349G>T (p.Arg450Leu) single nucleotide variant Cardiovascular phenotype [RCV004660810] Chr10:110784352 [GRCh38]
Chr10:112544110 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3077A>C (p.Glu1026Ala) single nucleotide variant Cardiovascular phenotype [RCV004660808] Chr10:110821696 [GRCh38]
Chr10:112581454 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.420G>T (p.Pro140=) single nucleotide variant Cardiovascular phenotype [RCV004660805] Chr10:110781029 [GRCh38]
Chr10:112540787 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2021del (p.Asp674fs) deletion Dilated cardiomyopathy 1DD [RCV004796980] Chr10:110812418 [GRCh38]
Chr10:112572176 [GRCh37]
Chr10:10q25.2		 likely pathogenic
NM_001134363.3(RBM20):c.3001G>A (p.Gly1001Ser) single nucleotide variant not provided [RCV004772036] Chr10:110821620 [GRCh38]
Chr10:112581378 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3141T>G (p.Ser1047=) single nucleotide variant not provided [RCV004722611] Chr10:110821760 [GRCh38]
Chr10:112581518 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1854G>T (p.Glu618Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005061402]|not provided [RCV004773650] Chr10:110810436 [GRCh38]
Chr10:112570194 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2240A>G (p.His747Arg) single nucleotide variant not provided [RCV004769033] Chr10:110812637 [GRCh38]
Chr10:112572395 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2581G>T (p.Glu861Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005104998]|not provided [RCV004774246] Chr10:110820102 [GRCh38]
Chr10:112579860 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2048G>C (p.Arg683Thr) single nucleotide variant not provided [RCV004770635] Chr10:110812445 [GRCh38]
Chr10:112572203 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1435G>A (p.Ala479Thr) single nucleotide variant Cardiovascular phenotype [RCV004989522] Chr10:110784797 [GRCh38]
Chr10:112544555 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1880G>A (p.Arg627Lys) single nucleotide variant Cardiovascular phenotype [RCV004989524] Chr10:110810462 [GRCh38]
Chr10:112570220 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3447T>C (p.Pro1149=) single nucleotide variant Cardiovascular phenotype [RCV004989511] Chr10:110823610 [GRCh38]
Chr10:112583368 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3507C>G (p.Phe1169Leu) single nucleotide variant Cardiovascular phenotype [RCV004989516] Chr10:110831116 [GRCh38]
Chr10:112590874 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.28G>A (p.Asp10Asn) single nucleotide variant Cardiovascular phenotype [RCV004989518] Chr10:110644482 [GRCh38]
Chr10:112404240 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2657A>G (p.Glu886Gly) single nucleotide variant Cardiovascular phenotype [RCV004989507] Chr10:110821276 [GRCh38]
Chr10:112581034 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.118G>A (p.Gly40Arg) single nucleotide variant Cardiovascular phenotype [RCV004989509] Chr10:110644572 [GRCh38]
Chr10:112404330 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.379G>A (p.Val127Met) single nucleotide variant Cardiovascular phenotype [RCV004989517] Chr10:110780988 [GRCh38]
Chr10:112540746 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1153G>A (p.Asp385Asn) single nucleotide variant Cardiovascular phenotype [RCV004989519] Chr10:110781762 [GRCh38]
Chr10:112541520 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3405C>T (p.Pro1135=) single nucleotide variant Cardiovascular phenotype [RCV004989504] Chr10:110823568 [GRCh38]
Chr10:112583326 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2141_2145dup (p.Arg716fs) duplication Cardiovascular phenotype [RCV004989505] Chr10:110812535..110812536 [GRCh38]
Chr10:112572293..112572294 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3325A>G (p.Arg1109Gly) single nucleotide variant Cardiovascular phenotype [RCV004989510] Chr10:110823488 [GRCh38]
Chr10:112583246 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.350C>G (p.Ala117Gly) single nucleotide variant Cardiovascular phenotype [RCV004989514] Chr10:110780959 [GRCh38]
Chr10:112540717 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1160C>A (p.Ala387Glu) single nucleotide variant Cardiovascular phenotype [RCV004989515] Chr10:110781769 [GRCh38]
Chr10:112541527 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1564A>G (p.Ile522Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV004821152] Chr10:110797544 [GRCh38]
Chr10:112557302 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2632C>A (p.Pro878Thr) single nucleotide variant Cardiovascular phenotype [RCV004989523]|Dilated cardiomyopathy 1DD [RCV005061542] Chr10:110820153 [GRCh38]
Chr10:112579911 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.60C>T (p.Asp20=) single nucleotide variant Cardiovascular phenotype [RCV004989525] Chr10:110644514 [GRCh38]
Chr10:112404272 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.226G>T (p.Val76Phe) single nucleotide variant Cardiovascular phenotype [RCV004989506] Chr10:110780835 [GRCh38]
Chr10:112540593 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3615C>G (p.Thr1205=) single nucleotide variant Cardiovascular phenotype [RCV004989508] Chr10:110835909 [GRCh38]
Chr10:112595667 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.351C>A (p.Ala117=) single nucleotide variant Cardiovascular phenotype [RCV004989512] Chr10:110780960 [GRCh38]
Chr10:112540718 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.693T>C (p.Tyr231=) single nucleotide variant Cardiovascular phenotype [RCV004989513]|Dilated cardiomyopathy 1DD [RCV005107795] Chr10:110781302 [GRCh38]
Chr10:112541060 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2451C>A (p.Gly817=) single nucleotide variant Cardiovascular phenotype [RCV004989520] Chr10:110812848 [GRCh38]
Chr10:112572606 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3454G>A (p.Val1152Met) single nucleotide variant Cardiovascular phenotype [RCV004989521] Chr10:110831063 [GRCh38]
Chr10:112590821 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.304C>A (p.Arg102=) single nucleotide variant Cardiovascular phenotype [RCV004983296] Chr10:110780913 [GRCh38]
Chr10:112540671 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3622G>A (p.Ala1208Thr) single nucleotide variant Cardiovascular phenotype [RCV004983299] Chr10:110835916 [GRCh38]
Chr10:112595674 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3062A>G (p.Asp1021Gly) single nucleotide variant Cardiovascular phenotype [RCV004983302] Chr10:110821681 [GRCh38]
Chr10:112581439 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2994A>G (p.Glu998=) single nucleotide variant Cardiovascular phenotype [RCV004983304] Chr10:110821613 [GRCh38]
Chr10:112581371 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2885C>T (p.Pro962Leu) single nucleotide variant Cardiovascular phenotype [RCV004983306] Chr10:110821504 [GRCh38]
Chr10:112581262 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1965C>T (p.Cys655=) single nucleotide variant Cardiovascular phenotype [RCV004983307] Chr10:110812362 [GRCh38]
Chr10:112572120 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2826C>T (p.Cys942=) single nucleotide variant Cardiovascular phenotype [RCV004983308] Chr10:110821445 [GRCh38]
Chr10:112581203 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.113C>G (p.Pro38Arg) single nucleotide variant Cardiovascular phenotype [RCV004983309] Chr10:110644567 [GRCh38]
Chr10:112404325 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1690dup (p.Thr564fs) duplication Cardiovascular phenotype [RCV004983297] Chr10:110799807..110799808 [GRCh38]
Chr10:112559565..112559566 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2167_2173dup (p.Glu725fs) duplication Cardiovascular phenotype [RCV004983298] Chr10:110812562..110812563 [GRCh38]
Chr10:112572320..112572321 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3039T>C (p.Ser1013=) single nucleotide variant Cardiovascular phenotype [RCV004983301] Chr10:110821658 [GRCh38]
Chr10:112581416 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3063T>C (p.Asp1021=) single nucleotide variant Cardiovascular phenotype [RCV004983303]|Dilated cardiomyopathy 1DD [RCV005107796] Chr10:110821682 [GRCh38]
Chr10:112581440 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.831C>T (p.Ala277=) single nucleotide variant Cardiovascular phenotype [RCV004983305]|Dilated cardiomyopathy 1DD [RCV005061543] Chr10:110781440 [GRCh38]
Chr10:112541198 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3037A>T (p.Ser1013Cys) single nucleotide variant Cardiovascular phenotype [RCV004983300] Chr10:110821656 [GRCh38]
Chr10:112581414 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.33G>A (p.Ala11=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005175272] Chr10:110644487 [GRCh38]
Chr10:112404245 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3525A>G (p.Thr1175=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005196592] Chr10:110831134 [GRCh38]
Chr10:112590892 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.759C>T (p.Ser253=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005067693] Chr10:110781368 [GRCh38]
Chr10:112541126 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.798C>T (p.His266=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005196238] Chr10:110781407 [GRCh38]
Chr10:112541165 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1152G>A (p.Glu384=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005174734] Chr10:110781761 [GRCh38]
Chr10:112541519 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3097G>T (p.Glu1033Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005196276] Chr10:110821716 [GRCh38]
Chr10:112581474 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1338-8C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005173245] Chr10:110784333 [GRCh38]
Chr10:112544091 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3566A>G (p.Asn1189Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005066789] Chr10:110831175 [GRCh38]
Chr10:112590933 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.344C>T (p.Ala115Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005195318] Chr10:110780953 [GRCh38]
Chr10:112540711 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3574-14T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV005088859] Chr10:110835854 [GRCh38]
Chr10:112595612 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2088del (p.Asn696fs) deletion Dilated cardiomyopathy 1DD [RCV005195942] Chr10:110812485 [GRCh38]
Chr10:112572243 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1724A>C (p.Gln575Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005175885] Chr10:110799842 [GRCh38]
Chr10:112559600 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.991C>A (p.Pro331Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005145885] Chr10:110781600 [GRCh38]
Chr10:112541358 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1997G>C (p.Arg666Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005144945] Chr10:110812394 [GRCh38]
Chr10:112572152 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1933C>T (p.Pro645Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005086292] Chr10:110812330 [GRCh38]
Chr10:112572088 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.774G>T (p.Ser258=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005171844] Chr10:110781383 [GRCh38]
Chr10:112541141 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1926A>T (p.Ser642=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005171246] Chr10:110812323 [GRCh38]
Chr10:112572081 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.550A>G (p.Met184Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005064052] Chr10:110781159 [GRCh38]
Chr10:112540917 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2754A>T (p.Glu918Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005085760] Chr10:110821373 [GRCh38]
Chr10:112581131 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3317-2A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005054038] Chr10:110823478 [GRCh38]
Chr10:112583236 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.354A>C (p.Thr118=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005145308] Chr10:110780963 [GRCh38]
Chr10:112540721 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2192G>A (p.Arg731Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005085840] Chr10:110812589 [GRCh38]
Chr10:112572347 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1880+19A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005060850] Chr10:110810481 [GRCh38]
Chr10:112570239 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.65T>G (p.Val22Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005173519] Chr10:110644519 [GRCh38]
Chr10:112404277 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3128T>A (p.Val1043Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005066987] Chr10:110821747 [GRCh38]
Chr10:112581505 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1972T>C (p.Ser658Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005174119] Chr10:110812369 [GRCh38]
Chr10:112572127 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2358C>G (p.Asp786Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005064374] Chr10:110812755 [GRCh38]
Chr10:112572513 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3677del (p.Lys1226fs) deletion Dilated cardiomyopathy 1DD [RCV005195512] Chr10:110835967 [GRCh38]
Chr10:112595725 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1460T>C (p.Val487Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005060441] Chr10:110784822 [GRCh38]
Chr10:112544580 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.384C>A (p.Ala128=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005088992] Chr10:110780993 [GRCh38]
Chr10:112540751 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2551-19C>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV005086367] Chr10:110820053 [GRCh38]
Chr10:112579811 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+10A>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005060276] Chr10:110812957 [GRCh38]
Chr10:112572715 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.866G>A (p.Gly289Asp) single nucleotide variant not provided [RCV005054825] Chr10:110781475 [GRCh38]
Chr10:112541233 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.943A>C (p.Thr315Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005039172] Chr10:110781552 [GRCh38]
Chr10:112541310 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1801-10A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV005150536] Chr10:110810373 [GRCh38]
Chr10:112570131 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2656-1G>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005115355] Chr10:110821274 [GRCh38]
Chr10:112581032 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3306G>A (p.Val1102=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005075731] Chr10:110821925 [GRCh38]
Chr10:112581683 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1668+4G>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV005186863] Chr10:110797652 [GRCh38]
Chr10:112557410 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1794G>C (p.Gln598His) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005150862] Chr10:110799912 [GRCh38]
Chr10:112559670 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3502C>T (p.Leu1168=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005072486] Chr10:110831111 [GRCh38]
Chr10:112590869 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.279A>G (p.Gln93=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005109391] Chr10:110780888 [GRCh38]
Chr10:112540646 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3209G>T (p.Gly1070Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005139562] Chr10:110821828 [GRCh38]
Chr10:112581586 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.904G>A (p.Gly302Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005205447] Chr10:110781513 [GRCh38]
Chr10:112541271 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.696C>T (p.Gly232=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005187084] Chr10:110781305 [GRCh38]
Chr10:112541063 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1128C>G (p.Ile376Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005137171] Chr10:110781737 [GRCh38]
Chr10:112541495 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.422C>T (p.Ser141Phe) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005164533] Chr10:110781031 [GRCh38]
Chr10:112540789 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1881-20G>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005202612] Chr10:110812258 [GRCh38]
Chr10:112572016 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.827C>G (p.Ala276Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005076497] Chr10:110781436 [GRCh38]
Chr10:112541194 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3600G>A (p.Glu1200=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005164632] Chr10:110835894 [GRCh38]
Chr10:112595652 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3592G>T (p.Ala1198Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005179719] Chr10:110835886 [GRCh38]
Chr10:112595644 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.15A>G (p.Ala5=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005176606] Chr10:110644469 [GRCh38]
Chr10:112404227 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.192-10C>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV005136002] Chr10:110780791 [GRCh38]
Chr10:112540549 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.516A>G (p.Ser172=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005162459] Chr10:110781125 [GRCh38]
Chr10:112540883 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3317-11A>G single nucleotide variant Dilated cardiomyopathy 1DD [RCV005184648] Chr10:110823469 [GRCh38]
Chr10:112583227 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.350_351delinsGA (p.Ala117Gly) indel Dilated cardiomyopathy 1DD [RCV005190407] Chr10:110780959..110780960 [GRCh38]
Chr10:112540717..112540718 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2325G>A (p.Gln775=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005194304] Chr10:110812722 [GRCh38]
Chr10:112572480 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.901G>T (p.Ala301Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005208022] Chr10:110781510 [GRCh38]
Chr10:112541268 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1107del (p.Asn369fs) deletion Dilated cardiomyopathy 1DD [RCV005136221] Chr10:110781716 [GRCh38]
Chr10:112541474 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3018T>C (p.Ala1006=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005129879] Chr10:110821637 [GRCh38]
Chr10:112581395 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.489del (p.Ser166fs) deletion Dilated cardiomyopathy 1DD [RCV005129899] Chr10:110781097 [GRCh38]
Chr10:112540855 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2537T>C (p.Met846Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005185090] Chr10:110812934 [GRCh38]
Chr10:112572692 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3236G>C (p.Gly1079Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005158745] Chr10:110821855 [GRCh38]
Chr10:112581613 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.101C>T (p.Ala34Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005078410] Chr10:110644555 [GRCh38]
Chr10:112404313 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1669-8T>A single nucleotide variant Dilated cardiomyopathy 1DD [RCV005194791] Chr10:110799779 [GRCh38]
Chr10:112559537 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2864_2870del (p.Leu955fs) deletion Dilated cardiomyopathy 1DD [RCV005135190] Chr10:110821481..110821487 [GRCh38]
Chr10:112581239..112581245 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1068C>T (p.Thr356=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005201313] Chr10:110781677 [GRCh38]
Chr10:112541435 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1528-10T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005180661] Chr10:110797498 [GRCh38]
Chr10:112557256 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3092G>T (p.Gly1031Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005077501] Chr10:110821711 [GRCh38]
Chr10:112581469 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1901G>C (p.Arg634Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005154497] Chr10:110812298 [GRCh38]
Chr10:112572056 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1669-10T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005153933] Chr10:110799777 [GRCh38]
Chr10:112559535 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.24C>G (p.Ser8Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005185407] Chr10:110644478 [GRCh38]
Chr10:112404236 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3469C>T (p.Pro1157Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005079067] Chr10:110831078 [GRCh38]
Chr10:112590836 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.902C>G (p.Ala301Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112080] Chr10:110781511 [GRCh38]
Chr10:112541269 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1013T>G (p.Met338Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112081] Chr10:110781622 [GRCh38]
Chr10:112541380 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1687T>G (p.Tyr563Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112086] Chr10:110799805 [GRCh38]
Chr10:112559563 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2017C>G (p.Arg673Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112092] Chr10:110812414 [GRCh38]
Chr10:112572172 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.952C>T (p.Gln318Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005129221] Chr10:110781561 [GRCh38]
Chr10:112541319 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1348C>A (p.Arg450=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005207718] Chr10:110784351 [GRCh38]
Chr10:112544109 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1114A>G (p.Lys372Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005179119] Chr10:110781723 [GRCh38]
Chr10:112541481 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2394G>C (p.Pro798=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005179122] Chr10:110812791 [GRCh38]
Chr10:112572549 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2550+9C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005206408] Chr10:110812956 [GRCh38]
Chr10:112572714 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1390C>T (p.Pro464Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005165887] Chr10:110784393 [GRCh38]
Chr10:112544151 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2489G>A (p.Arg830Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005197834] Chr10:110812886 [GRCh38]
Chr10:112572644 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2450G>T (p.Gly817Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005153018] Chr10:110812847 [GRCh38]
Chr10:112572605 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.469G>A (p.Ala157Thr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005183785] Chr10:110781078 [GRCh38]
Chr10:112540836 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1645A>G (p.Ile549Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005121018] Chr10:110797625 [GRCh38]
Chr10:112557383 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1430-9A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005181606] Chr10:110784783 [GRCh38]
Chr10:112544541 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2694G>A (p.Glu898=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005184051] Chr10:110821313 [GRCh38]
Chr10:112581071 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1066A>G (p.Thr356Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005149305] Chr10:110781675 [GRCh38]
Chr10:112541433 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.345A>G (p.Ala115=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005153630] Chr10:110780954 [GRCh38]
Chr10:112540712 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1704G>A (p.Gln568=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005193537] Chr10:110799822 [GRCh38]
Chr10:112559580 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1163T>C (p.Leu388Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005084496] Chr10:110781772 [GRCh38]
Chr10:112541530 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1669-17C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005169115] Chr10:110799770 [GRCh38]
Chr10:112559528 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.109G>C (p.Gly37Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005144552] Chr10:110644563 [GRCh38]
Chr10:112404321 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2962T>C (p.Ser988Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005144574] Chr10:110821581 [GRCh38]
Chr10:112581339 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2049G>C (p.Arg683Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005169213] Chr10:110812446 [GRCh38]
Chr10:112572204 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2642C>T (p.Thr881Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005165211] Chr10:110820163 [GRCh38]
Chr10:112579921 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3451+13C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005194580] Chr10:110823627 [GRCh38]
Chr10:112583385 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.41_42delinsAA (p.Ser14Lys) indel Dilated cardiomyopathy 1DD [RCV005140534] Chr10:110644495..110644496 [GRCh38]
Chr10:112404253..112404254 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2021A>C (p.Asp674Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005150102] Chr10:110812418 [GRCh38]
Chr10:112572176 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.435C>T (p.Gly145=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005150244] Chr10:110781044 [GRCh38]
Chr10:112540802 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.908G>A (p.Gly303Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005191889] Chr10:110781517 [GRCh38]
Chr10:112541275 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.356T>C (p.Val119Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112075] Chr10:110780965 [GRCh38]
Chr10:112540723 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1232C>A (p.Pro411Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112084] Chr10:110781841 [GRCh38]
Chr10:112541599 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1829T>A (p.Ile610Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112088] Chr10:110810411 [GRCh38]
Chr10:112570169 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1942C>T (p.His648Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112090] Chr10:110812339 [GRCh38]
Chr10:112572097 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3146C>G (p.Pro1049Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112098] Chr10:110821765 [GRCh38]
Chr10:112581523 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3659C>T (p.Pro1220Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005195049] Chr10:110835953 [GRCh38]
Chr10:112595711 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2803A>G (p.Ile935Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005134351] Chr10:110821422 [GRCh38]
Chr10:112581180 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.370C>A (p.Leu124Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005139673] Chr10:110780979 [GRCh38]
Chr10:112540737 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2081G>T (p.Arg694Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005078513] Chr10:110812478 [GRCh38]
Chr10:112572236 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.260C>A (p.Ala87Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005070853] Chr10:110780869 [GRCh38]
Chr10:112540627 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.878C>T (p.Ala293Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005153083] Chr10:110781487 [GRCh38]
Chr10:112541245 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2431G>A (p.Val811Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005072608] Chr10:110812828 [GRCh38]
Chr10:112572586 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1658C>G (p.Ser553Trp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005188430] Chr10:110797638 [GRCh38]
Chr10:112557396 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.813G>A (p.Gly271=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005140683] Chr10:110781422 [GRCh38]
Chr10:112541180 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3573+17C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005148980] Chr10:110831199 [GRCh38]
Chr10:112590957 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.47C>T (p.Pro16Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005148985] Chr10:110644501 [GRCh38]
Chr10:112404259 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2499A>G (p.Arg833=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005160270] Chr10:110812896 [GRCh38]
Chr10:112572654 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3540C>T (p.His1180=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005186575] Chr10:110831149 [GRCh38]
Chr10:112590907 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3452-17C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005186644] Chr10:110831044 [GRCh38]
Chr10:112590802 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2374del (p.Glu792fs) deletion Dilated cardiomyopathy 1DD [RCV005135682] Chr10:110812769 [GRCh38]
Chr10:112572527 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3168C>T (p.Ala1056=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005207658] Chr10:110821787 [GRCh38]
Chr10:112581545 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.874G>A (p.Val292Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005076745] Chr10:110781483 [GRCh38]
Chr10:112541241 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3452-18T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005117639] Chr10:110831043 [GRCh38]
Chr10:112590801 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1307A>G (p.His436Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005180064] Chr10:110783397 [GRCh38]
Chr10:112543155 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2373G>C (p.Arg791=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005198640] Chr10:110812770 [GRCh38]
Chr10:112572528 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2514T>A (p.Ala838=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005119697] Chr10:110812911 [GRCh38]
Chr10:112572669 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1294A>T (p.Lys432Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005117933] Chr10:110783384 [GRCh38]
Chr10:112543142 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1832A>G (p.Gln611Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005069679] Chr10:110810414 [GRCh38]
Chr10:112570172 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.795G>A (p.Gly265=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005162262] Chr10:110781404 [GRCh38]
Chr10:112541162 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3222T>C (p.Asp1074=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005137145] Chr10:110821841 [GRCh38]
Chr10:112581599 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1121G>A (p.Gly374Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005158772] Chr10:110781730 [GRCh38]
Chr10:112541488 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.690G>A (p.Glu230=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005083627] Chr10:110781299 [GRCh38]
Chr10:112541057 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2287G>T (p.Glu763Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005126627] Chr10:110812684 [GRCh38]
Chr10:112572442 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2142C>T (p.His714=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005190670] Chr10:110812539 [GRCh38]
Chr10:112572297 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.169G>T (p.Gly57Cys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005082147] Chr10:110644623 [GRCh38]
Chr10:112404381 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.191+11A>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005082148] Chr10:110644656 [GRCh38]
Chr10:112404414 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2343G>A (p.Arg781=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005166069] Chr10:110812740 [GRCh38]
Chr10:112572498 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1116A>G (p.Lys372=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005135055] Chr10:110781725 [GRCh38]
Chr10:112541483 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2259A>T (p.Lys753Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112093] Chr10:110812656 [GRCh38]
Chr10:112572414 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2461A>G (p.Lys821Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112094] Chr10:110812858 [GRCh38]
Chr10:112572616 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2816A>G (p.Asp939Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112095] Chr10:110821435 [GRCh38]
Chr10:112581193 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3028C>G (p.Pro1010Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112096] Chr10:110821647 [GRCh38]
Chr10:112581405 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1230_1231delinsTG (p.Leu410_Pro411delinsPheAla) indel Dilated cardiomyopathy 1DD [RCV005206577] Chr10:110781839..110781840 [GRCh38]
Chr10:112541597..112541598 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1503T>C (p.Phe501=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005162579] Chr10:110784865 [GRCh38]
Chr10:112544623 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3602G>T (p.Gly1201Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005165279] Chr10:110835896 [GRCh38]
Chr10:112595654 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.178C>T (p.Gln60Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005178935] Chr10:110644632 [GRCh38]
Chr10:112404390 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3416C>T (p.Pro1139Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005185727] Chr10:110823579 [GRCh38]
Chr10:112583337 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.875T>G (p.Val292Gly) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005176836] Chr10:110781484 [GRCh38]
Chr10:112541242 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3635G>A (p.Arg1212Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005183362] Chr10:110835929 [GRCh38]
Chr10:112595687 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2849del (p.Thr950fs) deletion Dilated cardiomyopathy 1DD [RCV005184670] Chr10:110821468 [GRCh38]
Chr10:112581226 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.779_797dup (p.His266delinsGlnCysAspLeuTer) duplication Dilated cardiomyopathy 1DD [RCV005122954] Chr10:110781382..110781383 [GRCh38]
Chr10:112541140..112541141 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2093A>T (p.Asp698Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005180026] Chr10:110812490 [GRCh38]
Chr10:112572248 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1338-18C>T single nucleotide variant Dilated cardiomyopathy 1DD [RCV005180058] Chr10:110784323 [GRCh38]
Chr10:112544081 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2655+6_2655+18del deletion Dilated cardiomyopathy 1DD [RCV005198636] Chr10:110820182..110820194 [GRCh38]
Chr10:112579940..112579952 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.229A>C (p.Ser77Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005151597] Chr10:110780838 [GRCh38]
Chr10:112540596 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3270C>G (p.Ile1090Met) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005202098] Chr10:110821889 [GRCh38]
Chr10:112581647 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2776dup (p.Ile926fs) duplication Dilated cardiomyopathy 1DD [RCV005203221] Chr10:110821394..110821395 [GRCh38]
Chr10:112581152..112581153 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3030A>C (p.Pro1010=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005201003] Chr10:110821649 [GRCh38]
Chr10:112581407 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.2337del (p.Arg781fs) deletion Dilated cardiomyopathy 1DD [RCV005114581] Chr10:110812730 [GRCh38]
Chr10:112572488 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.936G>C (p.Leu312=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005070701] Chr10:110781545 [GRCh38]
Chr10:112541303 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1484C>T (p.Thr495Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005180319] Chr10:110784846 [GRCh38]
Chr10:112544604 [GRCh37]
Chr10:10q25.2		 benign
NM_001134363.3(RBM20):c.1381T>C (p.Cys461Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005149284] Chr10:110784384 [GRCh38]
Chr10:112544142 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1801-18T>C single nucleotide variant Dilated cardiomyopathy 1DD [RCV005151920] Chr10:110810365 [GRCh38]
Chr10:112570123 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.67G>T (p.Ala23Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005181426] Chr10:110644521 [GRCh38]
Chr10:112404279 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1309G>C (p.Ala437Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005197797] Chr10:110783399 [GRCh38]
Chr10:112543157 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.705C>G (p.Ser235Arg) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005179369] Chr10:110781314 [GRCh38]
Chr10:112541072 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2455_2456delinsGT (p.Lys819Val) indel Dilated cardiomyopathy 1DD [RCV005201327] Chr10:110812852..110812853 [GRCh38]
Chr10:112572610..112572611 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2536A>G (p.Met846Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005178254] Chr10:110812933 [GRCh38]
Chr10:112572691 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.285G>A (p.Gln95=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005200283] Chr10:110780894 [GRCh38]
Chr10:112540652 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1219C>T (p.Pro407Ser) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005071007] Chr10:110781828 [GRCh38]
Chr10:112541586 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2295A>G (p.Lys765=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005130673] Chr10:110812692 [GRCh38]
Chr10:112572450 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3293C>T (p.Ala1098Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005177349] Chr10:110821912 [GRCh38]
Chr10:112581670 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.790G>T (p.Glu264Ter) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005178488] Chr10:110781399 [GRCh38]
Chr10:112541157 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1622C>T (p.Pro541Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005153563] Chr10:110797602 [GRCh38]
Chr10:112557360 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2229del (p.Asn744fs) deletion Dilated cardiomyopathy 1DD [RCV005201644] Chr10:110812624 [GRCh38]
Chr10:112572382 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2739G>A (p.Glu913=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005150114] Chr10:110821358 [GRCh38]
Chr10:112581116 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.3519G>A (p.Glu1173=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005150139] Chr10:110831128 [GRCh38]
Chr10:112590886 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.1527T>C (p.Thr509=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005151349] Chr10:110784889 [GRCh38]
Chr10:112544647 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.2548G>A (p.Glu850Lys) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005074842] Chr10:110812945 [GRCh38]
Chr10:112572703 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3066A>G (p.Ser1022=) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005070260] Chr10:110821685 [GRCh38]
Chr10:112581443 [GRCh37]
Chr10:10q25.2		 likely benign
NM_001134363.3(RBM20):c.598A>G (p.Thr200Ala) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112077] Chr10:110781207 [GRCh38]
Chr10:112540965 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.706T>C (p.Ser236Pro) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112079] Chr10:110781315 [GRCh38]
Chr10:112541073 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1057G>C (p.Glu353Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112082] Chr10:110781666 [GRCh38]
Chr10:112541424 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1211G>T (p.Gly404Val) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112083] Chr10:110781820 [GRCh38]
Chr10:112541578 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1946C>A (p.Thr649Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112091] Chr10:110812343 [GRCh38]
Chr10:112572101 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3106G>A (p.Asp1036Asn) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112097] Chr10:110821725 [GRCh38]
Chr10:112581483 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.38C>T (p.Pro13Leu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112074] Chr10:110644492 [GRCh38]
Chr10:112404250 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.565C>G (p.Gln189Glu) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112076] Chr10:110781174 [GRCh38]
Chr10:112540932 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.609G>T (p.Met203Ile) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112078] Chr10:110781218 [GRCh38]
Chr10:112540976 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1678G>C (p.Glu560Gln) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112085] Chr10:110799796 [GRCh38]
Chr10:112559554 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.1840C>T (p.His614Tyr) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112089] Chr10:110810422 [GRCh38]
Chr10:112570180 [GRCh37]
Chr10:10q25.2		 uncertain significance
NM_001134363.3(RBM20):c.3612G>C (p.Glu1204Asp) single nucleotide variant Dilated cardiomyopathy 1DD [RCV005112099] Chr10:110835906 [GRCh38]
Chr10:112595664 [GRCh37]
Chr10:10q25.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2103
Count of miRNA genes:1001
Interacting mature miRNAs:1192
Transcripts:ENST00000369519, ENST00000465774, ENST00000471172, ENST00000480343
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
597422234GWAS1518308_Hatrial fibrillation QTL GWAS1518308 (human)3e-08atrial fibrillation10110816937110816938Human
597425822GWAS1521896_Helectrocardiography QTL GWAS1521896 (human)4e-11electrocardiography10110816801110816802Human
597332063GWAS1428137_Hatrial fibrillation QTL GWAS1428137 (human)7e-10atrial fibrillation10110816937110816938Human
406973190GWAS622166_HQRS amplitude, QRS complex QTL GWAS622166 (human)0.000005QRS amplitude, QRS complexQRS amplitude (CMO:0000268)10110731862110731863Human
597059420GWAS1155494_Hvital capacity QTL GWAS1155494 (human)4e-12vital capacity10110685953110685954Human
597325136GWAS1421210_Hforced expiratory volume QTL GWAS1421210 (human)8e-10forced expiratory volumeforced expiratory volume (CMO:0000254)10110692374110692375Human
597171091GWAS1267165_HQRS-T angle QTL GWAS1267165 (human)2e-13heart excitatory physiology trait (VT:0000231)10110670820110670821Human
597170838GWAS1266912_HQRS-T angle QTL GWAS1266912 (human)6e-12heart excitatory physiology trait (VT:0000231)10110670820110670821Human
597267862GWAS1363936_Hcardioembolic stroke QTL GWAS1363936 (human)6e-09cardioembolic stroke10110816937110816938Human
406942737GWAS591713_Hnicotine dependence symptom count QTL GWAS591713 (human)0.000003nicotine dependence symptom count10110802760110802761Human
597178573GWAS1274647_HQRS-T angle QTL GWAS1274647 (human)1e-15heart excitatory physiology trait (VT:0000231)10110670820110670821Human
407048470GWAS697446_Huridine measurement QTL GWAS697446 (human)0.000001uridine measurement10110777159110777160Human
597146574GWAS1242648_HCOVID-19 QTL GWAS1242648 (human)4e-08migraine disorder10110742904110742905Human
597145143GWAS1241217_HCOVID-19 QTL GWAS1241217 (human)0.0000002COVID-1910110753528110753529Human
597256699GWAS1352773_HAlzheimer disease, gastroesophageal reflux disease QTL GWAS1352773 (human)0.000003Alzheimer disease, gastroesophageal reflux disease10110802149110802150Human
597253562GWAS1349636_Hurate measurement, spine bone mineral density QTL GWAS1349636 (human)0.000001urate measurement, spine bone mineral densitybone mineral density (CMO:0001226)10110810794110810795Human
597211696GWAS1307770_Helectrocardiography QTL GWAS1307770 (human)2e-17electrocardiography10110813930110813933Human
597271088GWAS1367162_Helectrocardiography QTL GWAS1367162 (human)4e-11electrocardiography10110700148110700149Human
597211697GWAS1307771_Helectrocardiography QTL GWAS1307771 (human)3e-12electrocardiography10110813930110813933Human
597211698GWAS1307772_Helectrocardiography QTL GWAS1307772 (human)5e-23electrocardiography10110813930110813933Human
597257330GWAS1353404_Hcardioembolic stroke QTL GWAS1353404 (human)3e-10cardioembolic stroke10110814644110814645Human
597027877GWAS1123951_Hatrial fibrillation QTL GWAS1123951 (human)0.0000002atrial fibrillation10110816937110816938Human
407160309GWAS809285_Hgut microbiome measurement QTL GWAS809285 (human)0.000006gut microbiome measurement10110824550110824551Human
597156837GWAS1252911_HMitral valve prolapse QTL GWAS1252911 (human)5e-09Mitral valve prolapse10110816801110816802Human
597199277GWAS1295351_Hlymphocyte measurement QTL GWAS1295351 (human)5e-08lymphocyte measurement10110700160110700161Human
597271087GWAS1367161_Helectrocardiography QTL GWAS1367161 (human)8e-10electrocardiography10110700148110700149Human
597211694GWAS1307768_Helectrocardiography QTL GWAS1307768 (human)2e-18electrocardiography10110813930110813933Human
597271086GWAS1367160_Helectrocardiography QTL GWAS1367160 (human)5e-09electrocardiography10110700148110700149Human
597211695GWAS1307769_Helectrocardiography QTL GWAS1307769 (human)4e-21electrocardiography10110813930110813933Human
597425825GWAS1521899_Helectrocardiography QTL GWAS1521899 (human)4e-11electrocardiography10110805081110805082Human
597179939GWAS1276013_HQRS-T angle QTL GWAS1276013 (human)2e-11heart excitatory physiology trait (VT:0000231)10110669292110669293Human
597226595GWAS1322669_Hatrial fibrillation QTL GWAS1322669 (human)1e-08atrial fibrillation10110816937110816938Human
597258533GWAS1354607_Hatrial fibrillation QTL GWAS1354607 (human)2e-09atrial fibrillation10110816937110816938Human
597349860GWAS1445934_Helectrocardiography QTL GWAS1445934 (human)3e-13electrocardiography10110816937110816938Human

Markers in Region
SHGC-54184  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,598,778 - 112,599,003UniSTSGRCh37
Build 3610112,588,768 - 112,588,993RGDNCBI36
Celera10106,330,371 - 106,330,596RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,227,615 - 106,227,840UniSTS
TNG Radiation Hybrid Map1054878.0UniSTS
SHGC-82989  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,509,304 - 112,509,626UniSTSGRCh37
Build 3610112,499,294 - 112,499,616RGDNCBI36
Celera10106,240,856 - 106,241,178RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,138,121 - 106,138,443UniSTS
TNG Radiation Hybrid Map1054835.0UniSTS
SHGC-80917  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,466,078 - 112,466,392UniSTSGRCh37
Build 3610112,456,068 - 112,456,382RGDNCBI36
Celera10106,197,654 - 106,197,968RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,095,210 - 106,095,524UniSTS
TNG Radiation Hybrid Map1054819.0UniSTS
SHGC-145640  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,499,075 - 112,499,366UniSTSGRCh37
Build 3610112,489,065 - 112,489,356RGDNCBI36
Celera10106,230,660 - 106,230,951RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,127,890 - 106,128,181UniSTS
TNG Radiation Hybrid Map1054832.0UniSTS
SHGC-147317  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,499,306 - 112,499,578UniSTSGRCh37
Build 3610112,489,296 - 112,489,568RGDNCBI36
Celera10106,230,891 - 106,231,163RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,128,121 - 106,128,393UniSTS
TNG Radiation Hybrid Map1054835.0UniSTS
WI-11215  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,414,810 - 112,415,012UniSTSGRCh37
Build 3610112,404,800 - 112,405,002RGDNCBI36
Celera10106,146,385 - 106,146,587RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,043,942 - 106,044,144UniSTS
Whitehead-RH Map10604.1UniSTS
Whitehead-YAC Contig Map10 UniSTS
WI-10472  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,444,389 - 112,444,592UniSTSGRCh37
Build 3610112,434,379 - 112,434,582RGDNCBI36
Celera10106,175,964 - 106,176,167RGD
Cytogenetic Map10q25.2UniSTS
HuRef10106,073,527 - 106,073,730UniSTS
Whitehead-RH Map10606.3UniSTS
RBM20__5654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3710112,598,323 - 112,599,243UniSTSGRCh37
Build 3610112,588,313 - 112,589,233RGDNCBI36
Celera10106,329,916 - 106,330,836RGD
HuRef10106,227,160 - 106,228,080UniSTS


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
visual system
1204 2405 2788 2251 4949 1675 2291 5 576 1844 418 2266 7118 6354 52 3716 842 1718 1604 173 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_021177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001134363 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016103 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017016104 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047425116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054365655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AK302802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL359260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL512508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832084 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB044334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU822950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459661 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF494699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF494700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF494701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF508532 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000369519   ⟹   ENSP00000358532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,644,336 - 110,839,468 (+)Ensembl
Ensembl Acc Id: ENST00000465774
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,835,178 - 110,836,258 (+)Ensembl
Ensembl Acc Id: ENST00000471172
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,823,588 - 110,831,513 (+)Ensembl
Ensembl Acc Id: ENST00000480343
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,827,771 - 110,836,234 (+)Ensembl
Ensembl Acc Id: ENST00000718239   ⟹   ENSP00000520684
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl10110,644,336 - 110,839,471 (+)Ensembl
RefSeq Acc Id: NM_001134363   ⟹   NP_001127835
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,644,336 - 110,839,468 (+)NCBI
GRCh3710112,404,155 - 112,599,227 (+)RGD
Celera10106,135,726 - 106,330,820 (+)RGD
HuRef10106,033,283 - 106,228,064 (+)ENTREZGENE
CHM1_110112,685,947 - 112,881,063 (+)NCBI
T2T-CHM13v2.010111,528,070 - 111,723,237 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016103   ⟹   XP_016871592
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,643,245 - 110,839,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017016104   ⟹   XP_016871593
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,763,777 - 110,839,468 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047425116   ⟹   XP_047281072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,768,282 - 110,839,468 (+)NCBI
RefSeq Acc Id: XM_054365653   ⟹   XP_054221628
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010111,526,746 - 111,723,237 (+)NCBI
RefSeq Acc Id: XM_054365654   ⟹   XP_054221629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010111,644,870 - 111,723,237 (+)NCBI
RefSeq Acc Id: XM_054365655   ⟹   XP_054221630
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.010111,652,041 - 111,723,237 (+)NCBI
RefSeq Acc Id: NP_001127835   ⟸   NM_001134363
- UniProtKB: B5A868 (UniProtKB/Swiss-Prot),   A6NIP5 (UniProtKB/Swiss-Prot),   Q5JVI1 (UniProtKB/Swiss-Prot),   Q5T481 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016871592   ⟸   XM_017016103
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016871593   ⟸   XM_017016104
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000358532   ⟸   ENST00000369519
RefSeq Acc Id: XP_047281072   ⟸   XM_047425116
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221628   ⟸   XM_054365653
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054221629   ⟸   XM_054365654
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054221630   ⟸   XM_054365655
- Peptide Label: isoform X2
Ensembl Acc Id: ENSP00000520684   ⟸   ENST00000718239
Protein Domains
RRM

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q5T481-F1-model_v2 AlphaFold Q5T481 1-1227 view protein structure

Promoters
RGD ID:7218665
Promoter ID:EPDNEW_H15078
Type:initiation region
Name:RBM20_2
Description:RNA binding motif protein 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15079  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,644,001 - 110,644,061EPDNEW
RGD ID:7218667
Promoter ID:EPDNEW_H15079
Type:initiation region
Name:RBM20_1
Description:RNA binding motif protein 20
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15078  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3810110,644,336 - 110,644,396EPDNEW
RGD ID:6788053
Promoter ID:HG_KWN:11157
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001134363,   OTTHUMT00000050339
Position:
Human AssemblyChrPosition (strand)Source
Build 3610112,393,926 - 112,394,426 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:27424 AgrOrtholog
COSMIC RBM20 COSMIC
Ensembl Genes ENSG00000203867 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000369519 ENTREZGENE
  ENST00000369519.4 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.330 UniProtKB/Swiss-Prot
GTEx ENSG00000203867 GTEx
HGNC ID HGNC:27424 ENTREZGENE
Human Proteome Map RBM20 Human Proteome Map
InterPro Matrin/U1-C_Znf_C2H2 UniProtKB/Swiss-Prot
  Matrin/U1-like-C_Znf_C2H2 UniProtKB/Swiss-Prot
  Nucleotide-bd_a/b_plait_sf UniProtKB/Swiss-Prot
  RBD_domain_sf UniProtKB/Swiss-Prot
  RBM20_RRM UniProtKB/Swiss-Prot
  RRM_dom UniProtKB/Swiss-Prot
KEGG Report hsa:282996 UniProtKB/Swiss-Prot
NCBI Gene 282996 ENTREZGENE
OMIM 613171 OMIM
PANTHER MATRIN 3/NUCLEAR PROTEIN 220-RELATED UniProtKB/Swiss-Prot
PharmGKB PA134934622 PharmGKB
PROSITE RRM UniProtKB/Swiss-Prot
  ZF_MATRIN UniProtKB/Swiss-Prot
SMART RRM UniProtKB/Swiss-Prot
  ZnF_U1 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF54928 UniProtKB/Swiss-Prot
UniProt A0A7R6M6R7_HUMAN UniProtKB/TrEMBL
  A0A7R6M8M5_HUMAN UniProtKB/TrEMBL
  A0A7R6RQJ6_HUMAN UniProtKB/TrEMBL
  A0A7R6RR32_HUMAN UniProtKB/TrEMBL
  A6NIP5 ENTREZGENE
  B5A868 ENTREZGENE
  Q5JVI1 ENTREZGENE
  Q5T481 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A6NIP5 UniProtKB/Swiss-Prot
  B5A868 UniProtKB/Swiss-Prot
  Q5JVI1 UniProtKB/Swiss-Prot