ABCC9 (ATP binding cassette subfamily C member 9) - Rat Genome Database
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Gene: ABCC9 (ATP binding cassette subfamily C member 9) Homo sapiens
Analyze
Symbol: ABCC9
Name: ATP binding cassette subfamily C member 9
RGD ID: 735726
HGNC Page HGNC
Description: Exhibits ATPase activity and ion channel binding activity. Contributes to potassium channel activity. Involved in several processes, including defense response to virus; potassium ion transmembrane transport; and response to ATP. Localizes to inward rectifying potassium channel. Implicated in dilated cardiomyopathy; dilated cardiomyopathy 1O; familial atrial fibrillation; and hypertrichotic osteochondrodysplasia Cantu type.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: ABC37; ATFB12; ATP-binding cassette sub-family C member 9; ATP-binding cassette transporter sub-family C member 9; ATP-binding cassette, sub-family C (CFTR/MRP), member 9; CANTU; CMD1O; FLJ36852; sulfonylurea receptor 2; sulfonylurea receptor 2A; SUR2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1221,797,401 - 21,942,529 (-)EnsemblGRCh38hg38GRCh38
GRCh381221,797,389 - 21,941,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371221,950,323 - 22,094,797 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361221,841,590 - 21,980,895 (-)NCBINCBI36hg18NCBI36
Build 341221,849,374 - 21,980,875NCBI
Celera1227,105,336 - 27,244,581 (-)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1221,723,876 - 21,863,675 (-)NCBIHuRef
CHM1_11221,915,604 - 22,054,751 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-deoxy-D-glucose  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4-hydroxyphenyl retinamide  (ISO)
acetamide  (ISO)
adenosine 5'-monophosphate  (ISO)
aflatoxin B1  (EXP,ISO)
aflatoxin M1  (EXP)
ammonium chloride  (ISO)
antirheumatic drug  (EXP)
ATP  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
cadmium dichloride  (ISO)
captan  (ISO)
carbon nanotube  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) sulfate  (EXP)
creatine  (ISO)
cyclosporin A  (EXP)
dextran sulfate  (ISO)
dioxygen  (ISO)
doxorubicin  (EXP)
endosulfan  (EXP)
folic acid  (ISO)
genistein  (ISO)
glyburide  (ISO)
kojic acid  (ISO)
MeIQx  (EXP)
metformin  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP)
N-nitrosodiethylamine  (ISO)
nicorandil  (ISO)
O-methyleugenol  (EXP)
oxidopamine  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorononanoic acid  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
Pinacidil  (ISO)
pioglitazone  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
resveratrol  (ISO)
riddelliine  (ISO)
rubidium atom  (ISO)
sodium arsenate  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
triclosan  (EXP)
trimellitic anhydride  (ISO)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (ISO)
vinclozolin  (ISO)
zinc sulfate  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal heart valve morphology  (IAGP)
Abnormality of neutrophils  (IAGP)
Abnormality of the hand  (IAGP)
Abnormality of the metacarpal bones  (IAGP)
Abnormality of the metaphysis  (IAGP)
Accelerated skeletal maturation  (IAGP)
Anteverted nares  (IAGP)
Autosomal dominant inheritance  (IAGP)
Bicuspid aortic valve  (IAGP)
Blepharophimosis  (IAGP)
Broad first metatarsal  (IAGP)
Broad hallux  (IAGP)
Broad hallux phalanx  (IAGP)
Broad ribs  (IAGP)
Bulbous nose  (IAGP)
Cardiac arrest  (IAGP)
Cardiomegaly  (IAGP)
Coarse facial features  (IAGP)
Congenital hypertrophy of left ventricle  (IAGP)
Congenital, generalized hypertrichosis  (IAGP)
Coxa valga  (IAGP)
Craniofacial hyperostosis  (IAGP)
Cuboid-shaped vertebral bodies  (IAGP)
Curly eyelashes  (IAGP)
Deep plantar creases  (IAGP)
Delayed skeletal maturation  (IAGP)
Depressed nasal bridge  (IAGP)
Dilated cardiomyopathy  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG abnormality  (IAGP)
Enlarged posterior fossa  (IAGP)
Epicanthus  (IAGP)
Erlenmeyer flask deformity of the femurs  (IAGP)
Everted lower lip vermilion  (IAGP)
Finger syndactyly  (IAGP)
First degree atrioventricular block  (IAGP)
Furrowed tongue  (IAGP)
Generalized hirsutism  (IAGP)
Gingival overgrowth  (IAGP)
Highly arched eyebrow  (IAGP)
Hypertelorism  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoplastic ischiopubic rami  (IAGP)
Impaired myocardial contractility  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Joint hyperflexibility  (IAGP)
Large for gestational age  (IAGP)
Large hands  (IAGP)
Large sella turcica  (IAGP)
Lipoatrophy  (IAGP)
Long eyelashes  (IAGP)
Long nose  (IAGP)
Long philtrum  (IAGP)
Low anterior hairline  (IAGP)
Low posterior hairline  (IAGP)
Lymphedema  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Metaphyseal widening  (IAGP)
Micrognathia  (IAGP)
Myopathy  (IAGP)
Narrow chest  (IAGP)
Oral synechia  (IAGP)
Osteoporosis  (IAGP)
Ovoid vertebral bodies  (IAGP)
Palmoplantar keratoderma  (IAGP)
Palpebral edema  (IAGP)
Paroxysmal atrial fibrillation  (IAGP)
Paroxysmal ventricular tachycardia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pericardial effusion  (IAGP)
Platyspondyly  (IAGP)
Prominent forehead  (IAGP)
Prominent supraorbital ridges  (IAGP)
Right bundle branch block  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Short distal phalanx of finger  (IAGP)
Short hallux  (IAGP)
Short neck  (IAGP)
Sick sinus syndrome  (IAGP)
Skeletal dysplasia  (IAGP)
Sloping forehead  (IAGP)
ST segment elevation  (IAGP)
Supraventricular tachycardia  (IAGP)
Syncope  (IAGP)
Synophrys  (IAGP)
Tapered finger  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thick nasal alae  (IAGP)
Thick upper lip vermilion  (IAGP)
Thick vermilion border  (IAGP)
Thickened skin  (IAGP)
Trifascicular block  (IAGP)
Umbilical hernia  (IAGP)
Ventricular fibrillation  (IAGP)
Ventricular tachycardia  (IAGP)
Wide mouth  (IAGP)
Wide nasal bridge  (IAGP)
References

Additional References at PubMed
PMID:8630239   PMID:8826984   PMID:9457174   PMID:9692785   PMID:9714850   PMID:9755153   PMID:10093054   PMID:10497157   PMID:10498831   PMID:10625598   PMID:11007308   PMID:11054556  
PMID:11136227   PMID:11825905   PMID:12107410   PMID:12145195   PMID:12189208   PMID:12356945   PMID:12477932   PMID:12738227   PMID:12934053   PMID:14702039   PMID:15339904   PMID:16189514  
PMID:16267564   PMID:16563363   PMID:16672225   PMID:16820413   PMID:18026101   PMID:18239147   PMID:18663158   PMID:18936737   PMID:18996111   PMID:19343046   PMID:19481058   PMID:19607836  
PMID:19729596   PMID:19913121   PMID:19952277   PMID:19962959   PMID:20033705   PMID:20301486   PMID:20301690   PMID:20474083   PMID:20600101   PMID:20610380   PMID:20628086   PMID:20664073  
PMID:20847183   PMID:21873635   PMID:22105623   PMID:22608503   PMID:22610116   PMID:23251661   PMID:23307537   PMID:23739550   PMID:24439875   PMID:24770881   PMID:25275207   PMID:25470345  
PMID:26115089   PMID:26181369   PMID:26226329   PMID:26465331   PMID:26621776   PMID:26871653   PMID:27736720   PMID:28131462   PMID:28842488   PMID:30280653   PMID:31575858  


Genomics

Comparative Map Data
ABCC9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1221,797,401 - 21,942,529 (-)EnsemblGRCh38hg38GRCh38
GRCh381221,797,389 - 21,941,863 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371221,950,323 - 22,094,797 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361221,841,590 - 21,980,895 (-)NCBINCBI36hg18NCBI36
Build 341221,849,374 - 21,980,875NCBI
Celera1227,105,336 - 27,244,581 (-)NCBI
Cytogenetic Map12p12.1NCBI
HuRef1221,723,876 - 21,863,675 (-)NCBIHuRef
CHM1_11221,915,604 - 22,054,751 (-)NCBICHM1_1
Abcc9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm396142,533,588 - 142,648,472 (-)NCBIGRCm39mm39
GRCm386142,587,862 - 142,702,766 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl6142,587,862 - 142,702,315 (-)EnsemblGRCm38mm10GRCm38
MGSCv376142,536,382 - 142,650,794 (-)NCBIGRCm37mm9NCBIm37
MGSCv366142,546,355 - 142,659,495 (-)NCBImm8
Celera6145,649,701 - 145,764,495 (-)NCBICelera
Cytogenetic Map6G2NCBI
cM Map674.35NCBI
Abcc9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.04176,806,098 - 176,928,540 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4176,805,431 - 176,922,424 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04241,019,980 - 241,139,051 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44180,165,979 - 180,236,791 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11533,877,146 - 33,883,992NCBI
Celera4164,064,977 - 164,186,502 (-)NCBICelera
Cytogenetic Map4q44NCBI
Abcc9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541317,382,564 - 17,510,132 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541317,385,966 - 17,510,220 (-)NCBIChiLan1.0ChiLan1.0
ABCC9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11266,960,888 - 67,102,496 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1266,960,888 - 67,102,496 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01264,357,176 - 64,500,358 (+)NCBIMhudiblu_PPA_v0panPan3
ABCC9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl2725,200,418 - 25,388,477 (+)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.12725,199,580 - 25,352,637 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Abcc9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_0049365484,983,461 - 5,110,693 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ABCC9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl551,536,526 - 51,673,583 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1551,536,531 - 51,673,583 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2554,818,859 - 54,944,118 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ABCC9
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11121,658,804 - 21,797,851 (-)NCBI
ChlSab1.1 Ensembl1121,658,794 - 21,797,263 (-)Ensembl
Abcc9
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475216,792,202 - 16,926,552 (+)NCBI

Position Markers
RH121390  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,999,584 - 21,999,874UniSTSGRCh37
Build 361221,890,851 - 21,891,141RGDNCBI36
Celera1227,154,571 - 27,154,861RGD
Cytogenetic Map12p12.1UniSTS
HuRef1221,773,599 - 21,773,889UniSTS
GDB:229337  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371222,003,133 - 22,003,216UniSTSGRCh37
Build 361221,894,400 - 21,894,483RGDNCBI36
Celera1227,158,112 - 27,158,195RGD
Cytogenetic Map12p12.1UniSTS
HuRef1221,777,148 - 21,777,231UniSTS
SHGC-18112  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371221,983,852 - 21,983,987UniSTSGRCh37
Build 361221,875,119 - 21,875,254RGDNCBI36
Celera1227,138,838 - 27,138,981RGD
Cytogenetic Map12p12.1UniSTS
HuRef1221,757,860 - 21,758,003UniSTS
Marshfield Genetic Map1242.1UniSTS
Stanford-G3 RH Map121133.0UniSTS
Whitehead-RH Map12160.3UniSTS
NCBI RH Map12247.1UniSTS
D11S3014  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map12q24.11UniSTS
D11S3026  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map14q23.1UniSTS
AL033784  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q13UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq12UniSTS
D11S2766  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map2q14.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map12q21.32UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map4q26UniSTS
D11S3017  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q26UniSTS
Cytogenetic Map9q31.1UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map5p15.32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q41UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2376
Count of miRNA genes:999
Interacting mature miRNAs:1194
Transcripts:ENST00000261200, ENST00000261201, ENST00000326684, ENST00000345162, ENST00000538350, ENST00000544039
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 937 729 327 130 27 121 1868 1500 164 54 305 297 11 924 1278
Low 1397 1509 1386 487 767 338 2477 697 3183 331 929 1309 163 1 280 1508 5 1
Below cutoff 105 655 13 6 880 6 12 387 33 220 5 2 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001377274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_020297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005253290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011520545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC084806 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH006105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092535 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX640893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CA389699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF495813 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF570253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF281059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF281060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF444682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261200   ⟹   ENSP00000261200
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,797,401 - 21,936,674 (-)Ensembl
RefSeq Acc Id: ENST00000261201   ⟹   ENSP00000261201
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,805,174 - 21,936,674 (-)Ensembl
RefSeq Acc Id: ENST00000326684   ⟹   ENSP00000317518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,922,969 - 21,941,402 (-)Ensembl
RefSeq Acc Id: ENST00000538350   ⟹   ENSP00000442604
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,923,464 - 21,941,233 (-)Ensembl
RefSeq Acc Id: ENST00000544039   ⟹   ENSP00000440521
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,805,174 - 21,910,978 (-)Ensembl
RefSeq Acc Id: ENST00000621589   ⟹   ENSP00000480233
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,923,813 - 21,936,674 (-)Ensembl
RefSeq Acc Id: ENST00000636888   ⟹   ENSP00000490640
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1221,923,571 - 21,942,529 (-)Ensembl
RefSeq Acc Id: NM_001377273   ⟹   NP_001364202
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,426 (-)NCBI
RefSeq Acc Id: NM_001377274   ⟹   NP_001364203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,426 (-)NCBI
RefSeq Acc Id: NM_005691   ⟹   NP_005682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,426 (-)NCBI
GRCh371221,950,323 - 22,094,797 (-)NCBI
Build 361221,849,375 - 21,980,895 (-)NCBI Archive
HuRef1221,723,876 - 21,863,675 (-)ENTREZGENE
CHM1_11221,923,391 - 22,054,751 (-)NCBI
Sequence:
RefSeq Acc Id: NM_020297   ⟹   NP_064693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,426 (-)NCBI
GRCh371221,950,323 - 22,094,797 (-)NCBI
Build 361221,841,590 - 21,980,895 (-)NCBI Archive
HuRef1221,723,876 - 21,863,675 (-)ENTREZGENE
CHM1_11221,915,604 - 22,054,751 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005253288   ⟹   XP_005253345
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,401 - 21,941,863 (-)NCBI
GRCh371221,950,323 - 22,094,797 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005253289   ⟹   XP_005253346
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,863 (-)NCBI
GRCh371221,950,323 - 22,094,797 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005253290   ⟹   XP_005253347
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,863 (-)NCBI
GRCh371221,950,323 - 22,094,797 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006719025   ⟹   XP_006719088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,389 - 21,941,863 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011520545   ⟹   XP_011518847
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,797,401 - 21,941,863 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_064693   ⟸   NM_020297
- Peptide Label: isoform SUR2B
- UniProtKB: O60706 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_005682   ⟸   NM_005691
- Peptide Label: isoform SUR2A
- UniProtKB: O60706 (UniProtKB/Swiss-Prot),   A0A024RAV7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005253345   ⟸   XM_005253288
- Peptide Label: isoform X1
- UniProtKB: O60706 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005253347   ⟸   XM_005253290
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: XP_005253346   ⟸   XM_005253289
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_006719088   ⟸   XM_006719025
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_011518847   ⟸   XM_011520545
- Peptide Label: isoform X1
- UniProtKB: O60706 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001364203   ⟸   NM_001377274
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001364202   ⟸   NM_001377273
- Peptide Label: isoform SUR2B
RefSeq Acc Id: ENSP00000480233   ⟸   ENST00000621589
RefSeq Acc Id: ENSP00000440521   ⟸   ENST00000544039
RefSeq Acc Id: ENSP00000490640   ⟸   ENST00000636888
RefSeq Acc Id: ENSP00000317518   ⟸   ENST00000326684
RefSeq Acc Id: ENSP00000442604   ⟸   ENST00000538350
RefSeq Acc Id: ENSP00000261201   ⟸   ENST00000261201
RefSeq Acc Id: ENSP00000261200   ⟸   ENST00000261200
Promoters
RGD ID:7223421
Promoter ID:EPDNEW_H17456
Type:multiple initiation site
Name:ABCC9_1
Description:ATP binding cassette subfamily C member 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381221,941,424 - 21,941,484EPDNEW
RGD ID:6789614
Promoter ID:HG_KWN:15194
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000326684,   UC001RFL.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361221,985,486 - 21,986,367 (-)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_005691.3(ABCC9):c.2889_2891del (p.Glu963del) deletion Dilated cardiomyopathy 1O [RCV000546707] Chr12:21845808..21845810 [GRCh38]
Chr12:21998742..21998744 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2080C>T (p.Arg694Ter) single nucleotide variant not provided [RCV000519602] Chr12:21875666 [GRCh38]
Chr12:22028600 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1165-5G>T single nucleotide variant not provided [RCV000550539] Chr12:21910317 [GRCh38]
Chr12:22063251 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3575C>A (p.Thr1192Asn) single nucleotide variant not provided [RCV000522889] Chr12:21829052 [GRCh38]
Chr12:21981986 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3621T>C (p.Ile1207=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000528930] Chr12:21829006 [GRCh38]
Chr12:21981940 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1901A>C (p.His634Pro) single nucleotide variant not provided [RCV000523307] Chr12:21887836 [GRCh38]
Chr12:22040770 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3460C>T (p.Arg1154Trp) single nucleotide variant Dilated cardiomyopathy 1O [RCV000546897]|Epicanthus [RCV001270102]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000024624] Chr12:21842327 [GRCh38]
Chr12:21995261 [GRCh37]
Chr12:12p12.1
pathogenic
NM_020297.3(ABCC9):c.3461G>A (p.Arg1154Gln) single nucleotide variant Dilated cardiomyopathy 1O [RCV000559460]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000024625]|not provided [RCV000256056] Chr12:21842326 [GRCh38]
Chr12:21995260 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.3128G>A (p.Cys1043Tyr) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000024626] Chr12:21844884 [GRCh38]
Chr12:21997818 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.1433C>T (p.Ala478Val) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000024627] Chr12:21908099 [GRCh38]
Chr12:22061033 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.3347G>A (p.Arg1116His) single nucleotide variant Dilated cardiomyopathy 1O [RCV001216671]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000029188] Chr12:21842440 [GRCh38]
Chr12:21995374 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.3346C>T (p.Arg1116Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV000809546]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000029189]|Kleefstra syndrome 1 [RCV001249678] Chr12:21842441 [GRCh38]
Chr12:21995375 [GRCh37]
Chr12:12p12.1
pathogenic|likely pathogenic
NM_005691.3(ABCC9):c.3058T>C (p.Ser1020Pro) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000029190] Chr12:21845641 [GRCh38]
Chr12:21998575 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.178C>T (p.His60Tyr) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000029191] Chr12:21933888 [GRCh38]
Chr12:22086822 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.-11T>C single nucleotide variant Cardiomyopathy [RCV000029272]|Dilated cardiomyopathy 1O [RCV000311917]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000351706]|not specified [RCV000038578] Chr12:21936685 [GRCh38]
Chr12:22089619 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance|not provided
NM_005691.3(ABCC9):c.1165-6del deletion Cardiomyopathy [RCV000029273]|Dilated Cardiomyopathy, Dominant [RCV000406815]|Dilated cardiomyopathy 1O [RCV000860765]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000354820]|not specified [RCV000611204] Chr12:21910318 [GRCh38]
Chr12:22063252 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.2200G>A (p.Val734Ile) single nucleotide variant Cardiomyopathy [RCV000029274]|Cardiomyopathy [RCV000852670]|Cardiovascular phenotype [RCV000251925]|Dilated cardiomyopathy 1O [RCV001082826]|Myocardial infarction [RCV000172738]|not provided [RCV000589913]|not specified [RCV000038600] Chr12:21864476 [GRCh38]
Chr12:22017410 [GRCh37]
Chr12:12p12.1
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.2523C>T (p.Ala841=) single nucleotide variant Cardiomyopathy [RCV001170962]|Cardiovascular phenotype [RCV000243743]|Dilated cardiomyopathy 1O [RCV000465190]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109675]|Primary dilated cardiomyopathy [RCV000029275]|not specified [RCV000038605] Chr12:21852488 [GRCh38]
Chr12:22005422 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.2554C>T (p.Gln852Ter) single nucleotide variant Cardiomyopathy [RCV000029276]|Dilated cardiomyopathy 1O [RCV000795388] Chr12:21852457 [GRCh38]
Chr12:22005391 [GRCh37]
Chr12:12p12.1
likely pathogenic|uncertain significance
NM_005691.3(ABCC9):c.2631G>A (p.Thr877=) single nucleotide variant Cardiomyopathy [RCV000029277]|Cardiovascular phenotype [RCV000244444]|Dilated cardiomyopathy 1O [RCV000227778]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000298765]|not specified [RCV000038606] Chr12:21852380 [GRCh38]
Chr12:22005314 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.2644-11G>A single nucleotide variant Cardiomyopathy [RCV000029278]|Dilated cardiomyopathy 1O [RCV000348574]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000291264]|not specified [RCV000038607] Chr12:21852233 [GRCh38]
Chr12:22005167 [GRCh37]
Chr12:12p12.1
benign|likely benign|uncertain significance
NM_005691.3(ABCC9):c.3321C>T (p.Ile1107=) single nucleotide variant Cardiomyopathy [RCV000029279]|Cardiovascular phenotype [RCV000246184]|Dilated cardiomyopathy 1O [RCV000205103]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111876]|not specified [RCV000038610] Chr12:21842466 [GRCh38]
Chr12:21995400 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.3768T>C (p.Leu1256=) single nucleotide variant Cardiomyopathy [RCV000029280]|Dilated cardiomyopathy 1O [RCV000205996]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109590]|not specified [RCV000038613] Chr12:21818153 [GRCh38]
Chr12:21971087 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.4450-5del deletion Cardiomyopathy [RCV000029281]|Cardiovascular phenotype [RCV000619283]|Dilated cardiomyopathy 1O [RCV000988798]|Primary dilated cardiomyopathy [RCV000852669]|not specified [RCV001175377] Chr12:21806065 [GRCh38]
Chr12:21958999 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.789C>T (p.Cys263=) single nucleotide variant Cardiomyopathy [RCV000029282]|Dilated cardiomyopathy 1O [RCV000476248]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113863]|not specified [RCV000038623] Chr12:21915695 [GRCh38]
Chr12:22068629 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.817-16delT deletion Cardiomyopathy [RCV000029283] Chr12:21913082 [GRCh38]
Chr12:22066016 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4640C>T (p.Thr1547Ile) single nucleotide variant Atrial fibrillation, familial, 12 [RCV000023103]|Cardiomyopathy [RCV000769372] Chr12:21805184 [GRCh38]
Chr12:21958118 [GRCh37]
Chr12:12p12.1
pathogenic|uncertain significance
ABCC9, 3-BP DEL, 4-BP INS, EX38 indel Dilated cardiomyopathy 1O [RCV000008639] Chr12:12p12.1 pathogenic
NM_020297.3(ABCC9):c.4537G>A (p.Ala1513Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV000008640] Chr12:21801157 [GRCh38]
Chr12:21954091 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.2961A>G (p.Thr987=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640343] Chr12:21845738 [GRCh38]
Chr12:21998672 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3796G>A (p.Val1266Met) single nucleotide variant Dilated cardiomyopathy 1O [RCV000524623]|Inborn genetic diseases [RCV000622750] Chr12:21817283 [GRCh38]
Chr12:21970217 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.1130T>C (p.Ile377Thr) single nucleotide variant not provided [RCV000521301] Chr12:21910860 [GRCh38]
Chr12:22063794 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2522C>T (p.Ala841Val) single nucleotide variant Dilated cardiomyopathy 1O [RCV000545364] Chr12:21852489 [GRCh38]
Chr12:22005423 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1056C>T (p.Tyr352=) single nucleotide variant Dilated cardiomyopathy 1O [RCV001081586]|not provided [RCV000588040]|not specified [RCV000038576] Chr12:21910934 [GRCh38]
Chr12:22063868 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.1063G>T (p.Ala355Ser) single nucleotide variant not provided [RCV000767008]|not specified [RCV000038579] Chr12:21910927 [GRCh38]
Chr12:22063861 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1142T>A (p.Ile381Asn) single nucleotide variant not specified [RCV000038580] Chr12:21910848 [GRCh38]
Chr12:22063782 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1164+11= single nucleotide variant Dilated cardiomyopathy 1O [RCV000330265]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000383488]|not specified [RCV000038581] Chr12:21910815 [GRCh38]
Chr12:22063749 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.1296= (p.Pro432=) single nucleotide variant Cardiomyopathy [RCV000770410]|Cardiovascular phenotype [RCV000246990]|Dilated cardiomyopathy 1O [RCV000346009]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000386317]|not specified [RCV000038583] Chr12:21910181 [GRCh38]
Chr12:22063115 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.1358G>C (p.Gly453Ala) single nucleotide variant not specified [RCV000038584] Chr12:21908174 [GRCh38]
Chr12:22061108 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1557G>A (p.Glu519=) single nucleotide variant Cardiomyopathy [RCV000770407]|Cardiovascular phenotype [RCV000621436]|Dilated cardiomyopathy 1O [RCV001081176]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000356195]|not provided [RCV000459982]|not specified [RCV000038585] Chr12:21906187 [GRCh38]
Chr12:22059121 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.1603T>C (p.Tyr535His) single nucleotide variant Dilated cardiomyopathy 1O [RCV000792599]|not provided [RCV000766938]|not specified [RCV000038586] Chr12:21906141 [GRCh38]
Chr12:22059075 [GRCh37]
Chr12:12p12.1
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1677G>A (p.Ala559=) single nucleotide variant Cardiomyopathy [RCV000770406]|Cardiovascular phenotype [RCV000620779]|Dilated cardiomyopathy 1O [RCV000474261]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109762]|not specified [RCV000038587] Chr12:21894157 [GRCh38]
Chr12:22047091 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.1848C>T (p.Asp616=) single nucleotide variant Cardiomyopathy [RCV000770405]|Cardiovascular phenotype [RCV000250298]|Dilated cardiomyopathy 1O [RCV000232717]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000347953]|not specified [RCV000038588] Chr12:21887889 [GRCh38]
Chr12:22040823 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.1887G>T (p.Glu629Asp) single nucleotide variant Cardiomyopathy [RCV000770404]|Cardiovascular phenotype [RCV000617943]|Conduction disorder of the heart [RCV000845371]|Dilated cardiomyopathy 1O [RCV000556250]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113777]|not provided [RCV000172513]|not specified [RCV000038589] Chr12:21887850 [GRCh38]
Chr12:22040784 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.1909G>A (p.Val637Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV001204365]|not specified [RCV000038590] Chr12:21887828 [GRCh38]
Chr12:22040762 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1982G>A (p.Arg661His) single nucleotide variant not specified [RCV000038591] Chr12:21882803 [GRCh38]
Chr12:22035737 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.1987C>T (p.Arg663Cys) single nucleotide variant Dilated cardiomyopathy 1A [RCV001256792]|Dilated cardiomyopathy 1O [RCV000988800]|not provided [RCV000767084]|not specified [RCV000038592] Chr12:21882798 [GRCh38]
Chr12:22035732 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.2000C>A (p.Thr667Lys) single nucleotide variant not provided [RCV000766467]|not specified [RCV000038593] Chr12:21882785 [GRCh38]
Chr12:22035719 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2050G>A (p.Gly684Ser) single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852671]|Cardiomyopathy [RCV001170964]|Cardiovascular phenotype [RCV000618613]|Dilated cardiomyopathy 1O [RCV001079802]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112435]|not provided [RCV000172512]|not specified [RCV000038594] Chr12:21875696 [GRCh38]
Chr12:22028630 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.2081G>A (p.Arg694Gln) single nucleotide variant Dilated cardiomyopathy 1O [RCV001059986]|not specified [RCV000038595] Chr12:21875665 [GRCh38]
Chr12:22028599 [GRCh37]
Chr12:21919866 [NCBI36]
Chr12:12p12.1
uncertain significance|not provided
NM_005691.3(ABCC9):c.2093-7T>C single nucleotide variant Brugada syndrome [RCV000577954]|Cardiomyopathy [RCV000770402]|Dilated cardiomyopathy 1O [RCV000461378]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000578010]|not specified [RCV000038596] Chr12:21872737 [GRCh38]
Chr12:22025671 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.2149G>A (p.Ala717Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV001046473]|not specified [RCV000038597] Chr12:21872674 [GRCh38]
Chr12:22025608 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.2154C>T (p.Ile718=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000466054]|not specified [RCV000038598] Chr12:21872669 [GRCh38]
Chr12:22025603 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2199-11= single nucleotide variant Dilated cardiomyopathy 1O [RCV000336614]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000278224]|not specified [RCV000038599] Chr12:21864488 [GRCh38]
Chr12:22017422 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.2262T>C (p.Tyr754=) single nucleotide variant Cardiomyopathy [RCV000770401]|Cardiovascular phenotype [RCV000620041]|Dilated cardiomyopathy 1O [RCV001084062]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111979]|not provided [RCV000475517]|not specified [RCV000038601] Chr12:21863030 [GRCh38]
Chr12:22015964 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.2339+13A>G single nucleotide variant not specified [RCV000038602] Chr12:21862940 [GRCh38]
Chr12:22015874 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2424+9T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000469260]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000273831]|not specified [RCV000038603] Chr12:21860962 [GRCh38]
Chr12:22013896 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.2425-13G>A single nucleotide variant not specified [RCV000038604] Chr12:21859679 [GRCh38]
Chr12:22012613 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2862C>T (p.Asp954=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000230764]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000334002]|not specified [RCV000038608] Chr12:21848154 [GRCh38]
Chr12:22001088 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.3096+13C>T single nucleotide variant not specified [RCV000038609] Chr12:21845590 [GRCh38]
Chr12:21998524 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.3409G>A (p.Val1137Ile) single nucleotide variant Cardiomyopathy [RCV000769376]|Dilated cardiomyopathy 1O [RCV000988799]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111873]|not provided [RCV000756946]|not specified [RCV000038611] Chr12:21842378 [GRCh38]
Chr12:21995312 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.372T>C (p.Asn124=) single nucleotide variant Cardiomyopathy [RCV000769385]|Cardiovascular phenotype [RCV000621321]|Dilated cardiomyopathy 1O [RCV000468437]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000309406]|not specified [RCV000038612] Chr12:21925976 [GRCh38]
Chr12:22078910 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.4062G>A (p.Ser1354=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000228704]|not specified [RCV000038614] Chr12:21814684 [GRCh38]
Chr12:21967618 [GRCh37]
Chr12:12p12.1
likely pathogenic|likely benign
NM_005691.3(ABCC9):c.407-14C>A single nucleotide variant Arrhythmogenic right ventricular cardiomyopathy [RCV000852673]|Dilated cardiomyopathy 1O [RCV000312271]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000366987]|not specified [RCV000038615] Chr12:21917117 [GRCh38]
Chr12:22070051 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.420T>C (p.Tyr140=) single nucleotide variant Cardiomyopathy [RCV000769384]|not specified [RCV000038616] Chr12:21917090 [GRCh38]
Chr12:22070024 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4352T>C (p.Val1451Ala) single nucleotide variant Primary dilated cardiomyopathy [RCV000208433]|not specified [RCV000038617] Chr12:21807443 [GRCh38]
Chr12:21960377 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.4437T>C (p.Ile1479=) single nucleotide variant Cardiomyopathy [RCV000769373]|Dilated cardiomyopathy 1O [RCV000226383]|not specified [RCV000038618] Chr12:21807358 [GRCh38]
Chr12:21960292 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4516C>T (p.Arg1506Cys) single nucleotide variant Cardiovascular phenotype [RCV000618677]|Dilated cardiomyopathy 1O [RCV001038743]|not specified [RCV000038619] Chr12:21805308 [GRCh38]
Chr12:21958242 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.4613A>G (p.Asn1538Ser) single nucleotide variant not provided [RCV000171848]|not specified [RCV000038620] Chr12:21805211 [GRCh38]
Chr12:21958145 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.573+6T>C single nucleotide variant not specified [RCV000038621] Chr12:21916931 [GRCh38]
Chr12:22069865 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.574-5C>A single nucleotide variant Cardiovascular phenotype [RCV000251745]|Dilated cardiomyopathy 1O [RCV000336685]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000401337]|not specified [RCV000038622] Chr12:21915915 [GRCh38]
Chr12:22068849 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_020297.3(ABCC9):c.798T>C (p.Asp266=) single nucleotide variant Cardiomyopathy [RCV000769383]|Dilated cardiomyopathy 1O [RCV000229371]|not specified [RCV000038624] Chr12:21915686 [GRCh38]
Chr12:22068620 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_020297.3(ABCC9):c.816+11G>A single nucleotide variant not specified [RCV000038625] Chr12:21915657 [GRCh38]
Chr12:22068591 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.817-7del deletion Cardiomyopathy [RCV000029283]|Dilated cardiomyopathy 1O [RCV000204077]|not specified [RCV000038626] Chr12:21913073 [GRCh38]
Chr12:22066007 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.918G>A (p.Leu306=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000705107]|not specified [RCV000038627] Chr12:21912965 [GRCh38]
Chr12:22065899 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_020297.3(ABCC9):c.924T>C (p.Asp308=) single nucleotide variant Cardiomyopathy [RCV000769381]|Dilated cardiomyopathy 1O [RCV000464771]|not specified [RCV000038628] Chr12:21912959 [GRCh38]
Chr12:22065893 [GRCh37]
Chr12:12p12.1
benign
GRCh38/hg38 12p13.33-11.22(chr12:121055-28415184)x1 copy number loss See cases [RCV000052776] Chr12:121055..28415184 [GRCh38]
Chr12:282465..28568117 [GRCh37]
Chr12:100482..28459384 [NCBI36]
Chr12:12p13.33-11.22
pathogenic
GRCh38/hg38 12p12.3-11.23(chr12:19295848-27012560)x1 copy number loss See cases [RCV000052782] Chr12:19295848..27012560 [GRCh38]
Chr12:19448782..27165493 [GRCh37]
Chr12:19340049..27056760 [NCBI36]
Chr12:12p12.3-11.23
pathogenic
GRCh38/hg38 12p12.1-11.21(chr12:21771052-32222232)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052783]|See cases [RCV000052783] Chr12:21771052..32222232 [GRCh38]
Chr12:21923986..32375166 [GRCh37]
Chr12:21815253..32266433 [NCBI36]
Chr12:12p12.1-11.21
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3 copy number gain See cases [RCV000053660] Chr12:77187..34380176 [GRCh38]
Chr12:282465..34533111 [GRCh37]
Chr12:56614..34424378 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3 copy number gain See cases [RCV000053662] Chr12:80412..25470329 [GRCh38]
Chr12:282465..25623263 [GRCh37]
Chr12:59839..25514530 [NCBI36]
Chr12:12p13.33-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4 copy number gain See cases [RCV000053666] Chr12:212976..33926913 [GRCh38]
Chr12:322142..34079848 [GRCh37]
Chr12:192403..33971115 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:18252085-25696258)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053670]|See cases [RCV000053670] Chr12:18252085..25696258 [GRCh38]
Chr12:18405019..25849192 [GRCh37]
Chr12:18296286..25740459 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
NM_005691.3(ABCC9):c.2443G>A (p.Gly815Arg) single nucleotide variant Malignant melanoma [RCV000069943] Chr12:21859648 [GRCh38]
Chr12:22012582 [GRCh37]
Chr12:21903849 [NCBI36]
Chr12:12p12.1
not provided
NM_005691.3(ABCC9):c.330G>A (p.Met110Ile) single nucleotide variant Malignant melanoma [RCV000069944] Chr12:21926018 [GRCh38]
Chr12:22078952 [GRCh37]
Chr12:21970219 [NCBI36]
Chr12:12p12.1
not provided
NM_020297.3(ABCC9):c.4609G>A (p.Glu1537Lys) single nucleotide variant Malignant melanoma [RCV000062474] Chr12:21801085 [GRCh38]
Chr12:21954019 [GRCh37]
Chr12:21845286 [NCBI36]
Chr12:12p12.1
not provided
NM_005691.3(ABCC9):c.3474-2A>G single nucleotide variant Malignant melanoma [RCV000062475] Chr12:21838172 [GRCh38]
Chr12:21991106 [GRCh37]
Chr12:21882373 [NCBI36]
Chr12:12p12.1
not provided
NM_005691.3(ABCC9):c.1165-19dup duplication Cardiomyopathy [RCV000769379]|Dilated Cardiomyopathy, Dominant [RCV000302937]|Dilated cardiomyopathy 1O [RCV001088765]|Familial atrial fibrillation [RCV000406811]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000357777]|not provided [RCV000824727]|not specified [RCV000038582] Chr12:21910317..21910318 [GRCh38]
Chr12:22063251..22063252 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.52G>A (p.Gly18Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000660569] Chr12:21936623 [GRCh38]
Chr12:22089557 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.817-17C>T single nucleotide variant not specified [RCV000123449] Chr12:21913083 [GRCh38]
Chr12:22066017 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.2475G>A (p.Ala825=) single nucleotide variant not provided [RCV000865797]|not specified [RCV000123458] Chr12:21859616 [GRCh38]
Chr12:22012550 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_020297.3(ABCC9):c.2643+17G>C single nucleotide variant not specified [RCV000123461] Chr12:21852351 [GRCh38]
Chr12:22005285 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.3096+9G>T single nucleotide variant not specified [RCV000602839] Chr12:21845594 [GRCh38]
Chr12:21998528 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1978C>T (p.Arg660Trp) single nucleotide variant Dilated cardiomyopathy 1O [RCV001050168]|not provided [RCV000171209] Chr12:21882807 [GRCh38]
Chr12:22035741 [GRCh37]
Chr12:12p12.1
likely pathogenic|uncertain significance
NM_005691.3(ABCC9):c.3520C>T (p.His1174Tyr) single nucleotide variant not provided [RCV000171207] Chr12:21838124 [GRCh38]
Chr12:21991058 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.2815C>T (p.Arg939Trp) single nucleotide variant not provided [RCV000171208] Chr12:21848201 [GRCh38]
Chr12:22001135 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.406+2111C>G single nucleotide variant not provided [RCV000171856] Chr12:21923831 [GRCh38]
Chr12:22076765 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4572_4573insT (p.Val1525fs) insertion Hypertrichotic osteochondrodysplasia Cantu type [RCV000850523]|not provided [RCV000172508] Chr12:21805251..21805252 [GRCh38]
Chr12:21958185..21958186 [GRCh37]
Chr12:12p12.1
pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.4571T>A (p.Leu1524Ter) single nucleotide variant not provided [RCV000172509] Chr12:21805253 [GRCh38]
Chr12:21958187 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.4570T>A (p.Leu1524Ile) single nucleotide variant not provided [RCV000172510] Chr12:21805254 [GRCh38]
Chr12:21958188 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.3955G>A (p.Val1319Ile) single nucleotide variant not provided [RCV000171849] Chr12:21815831 [GRCh38]
Chr12:21968765 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3594G>A (p.Met1198Ile) single nucleotide variant Cardiomyopathy [RCV000769375]|Dilated cardiomyopathy 1O [RCV000465122]|not provided [RCV000171850] Chr12:21829033 [GRCh38]
Chr12:21981967 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3299C>T (p.Thr1100Ile) single nucleotide variant not provided [RCV000171851] Chr12:21844499 [GRCh38]
Chr12:21997433 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2813G>A (p.Arg938Gln) single nucleotide variant not provided [RCV000171852] Chr12:21848203 [GRCh38]
Chr12:22001137 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2215C>G (p.Pro739Ala) single nucleotide variant not provided [RCV000171853] Chr12:21864461 [GRCh38]
Chr12:22017395 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2066C>T (p.Ser689Phe) single nucleotide variant not provided [RCV000171854] Chr12:21875680 [GRCh38]
Chr12:22028614 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1981C>T (p.Arg661Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV001113776]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113775]|not provided [RCV000171855] Chr12:21882804 [GRCh38]
Chr12:22035738 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.287G>A (p.Arg96Gln) single nucleotide variant Dilated cardiomyopathy 1O [RCV000529543]|not provided [RCV000171857]|not specified [RCV000211884] Chr12:21926061 [GRCh38]
Chr12:22078995 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 12p12.3-12.1(chr12:19265334-25482589)x1 copy number loss See cases [RCV000135588] Chr12:19265334..25482589 [GRCh38]
Chr12:19418268..25635523 [GRCh37]
Chr12:19309535..25526790 [NCBI36]
Chr12:12p12.3-12.1
likely pathogenic
GRCh38/hg38 12p12.3-12.1(chr12:15840854-22021652)x1 copy number loss See cases [RCV000135620] Chr12:15840854..22021652 [GRCh38]
Chr12:15993788..22174586 [GRCh37]
Chr12:15885055..22065853 [NCBI36]
Chr12:12p12.3-12.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3 copy number gain See cases [RCV000136611] Chr12:121255..34603274 [GRCh38]
Chr12:282465..34756209 [GRCh37]
Chr12:100682..34647476 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3 copy number gain See cases [RCV000139052] Chr12:121271..34603261 [GRCh38]
Chr12:282465..34756196 [GRCh37]
Chr12:100698..34647463 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4 copy number gain See cases [RCV000139787] Chr12:54427..34608071 [GRCh38]
Chr12:282465..34761006 [GRCh37]
Chr12:33854..34652273 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33
pathogenic
GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4 copy number gain See cases [RCV000142149] Chr12:64620..34682902 [GRCh38]
Chr12:173786..34835837 [GRCh37]
Chr12:44047..34727104 [NCBI36]
Chr12:12p13.33-11.1
pathogenic
NM_020297.3(ABCC9):c.3288T>C (p.Phe1096=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000861365]|not specified [RCV000155784] Chr12:21844510 [GRCh38]
Chr12:21997444 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2932C>A (p.Pro978Thr) single nucleotide variant not specified [RCV000155785] Chr12:21845767 [GRCh38]
Chr12:21998701 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.575G>A (p.Arg192Lys) single nucleotide variant Dilated cardiomyopathy 1O [RCV001059036]|not specified [RCV000155866] Chr12:21915909 [GRCh38]
Chr12:22068843 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1875G>A (p.Ser625=) single nucleotide variant Dilated cardiomyopathy 1O [RCV001113781]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001113780]|not specified [RCV000150120] Chr12:21887862 [GRCh38]
Chr12:22040796 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.1012-7G>A single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000765080]|not specified [RCV000150121] Chr12:21910985 [GRCh38]
Chr12:22063919 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.289C>T (p.Arg97Trp) single nucleotide variant not provided [RCV000766729]|not specified [RCV000150122] Chr12:21926059 [GRCh38]
Chr12:22078993 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_001377274.1(ABCC9):c.-286C>T single nucleotide variant not specified [RCV000150123] Chr12:21933897 [GRCh38]
Chr12:22086831 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.142+15dup duplication not specified [RCV000150124] Chr12:21936517..21936518 [GRCh38]
Chr12:22089451..22089452 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity
NM_005691.3(ABCC9):c.48C>T (p.Asn16=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000461827]|not specified [RCV000150125] Chr12:21936627 [GRCh38]
Chr12:22089561 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.47A>G (p.Asn16Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000458476]|not specified [RCV000150126] Chr12:21936628 [GRCh38]
Chr12:22089562 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4365G>A (p.Gln1455=) single nucleotide variant not specified [RCV000156103] Chr12:21807430 [GRCh38]
Chr12:21960364 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3315+4A>G single nucleotide variant not specified [RCV000156196] Chr12:21844479 [GRCh38]
Chr12:21997413 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4470A>G (p.Val1490=) single nucleotide variant not specified [RCV000156422] Chr12:21806040 [GRCh38]
Chr12:21958974 [GRCh37]
Chr12:12p12.1
likely benign
NM_001377274.1(ABCC9):c.-359C>T single nucleotide variant not specified [RCV000156460] Chr12:21936579 [GRCh38]
Chr12:22089513 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1012-14del deletion not specified [RCV000156555] Chr12:21910992 [GRCh38]
Chr12:22063926 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.574-5= single nucleotide variant not specified [RCV000154426] Chr12:21915915 [GRCh38]
Chr12:22068849 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.1296C>T (p.Pro432=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000474158]|not specified [RCV000154427] Chr12:21910181 [GRCh38]
Chr12:22063115 [GRCh37]
Chr12:12p12.1
likely benign
NM_001377274.1(ABCC9):c.-60A>G single nucleotide variant not specified [RCV000156632] Chr12:21925953 [GRCh38]
Chr12:22078887 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3669G>A (p.Thr1223=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000233741]|not provided [RCV000767167]|not specified [RCV000154675] Chr12:21828958 [GRCh38]
Chr12:21981892 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3668C>T (p.Thr1223Met) single nucleotide variant Dilated cardiomyopathy 1O [RCV001062858]|not specified [RCV000154676] Chr12:21828959 [GRCh38]
Chr12:21981893 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3339T>G (p.Ser1113=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640335]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111875]|not specified [RCV000154677] Chr12:21842448 [GRCh38]
Chr12:21995382 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1200G>A (p.Thr400=) single nucleotide variant Cardiovascular phenotype [RCV000617899]|Dilated cardiomyopathy 1O [RCV000862430]|not specified [RCV000154678] Chr12:21910277 [GRCh38]
Chr12:22063211 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.4196dup (p.Ser1400fs) duplication not provided [RCV000766287]|not specified [RCV000156786] Chr12:21812063..21812064 [GRCh38]
Chr12:21964997..21964998 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2770-13A>G single nucleotide variant Dilated cardiomyopathy 1O [RCV000379750]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000322633]|not specified [RCV000150117] Chr12:21848259 [GRCh38]
Chr12:22001193 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.2644-11G>C single nucleotide variant not specified [RCV000150118] Chr12:21852233 [GRCh38]
Chr12:22005167 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.2238-1G>A single nucleotide variant ABCC9-Related Disorders [RCV001111980]|Cardiomyopathy [RCV001170963]|Cardiovascular phenotype [RCV000622123]|Dilated cardiomyopathy 1O [RCV001081898]|not provided [RCV000172511]|not specified [RCV000150119] Chr12:21863055 [GRCh38]
Chr12:22015989 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.2199-6T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000281682]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000321867]|not specified [RCV000156804] Chr12:21864483 [GRCh38]
Chr12:22017417 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.4450-16dup duplication Dilated cardiomyopathy 1O [RCV000860783]|not specified [RCV000155631] Chr12:21806064..21806065 [GRCh38]
Chr12:21958998..21958999 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.4569T>C (p.Asn1523=) single nucleotide variant not specified [RCV000155690] Chr12:21801125 [GRCh38]
Chr12:21954059 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4157G>A (p.Arg1386His) single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157089] Chr12:21812103 [GRCh38]
Chr12:21965037 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3460C>G (p.Arg1154Gly) single nucleotide variant not provided [RCV000254900] Chr12:21842327 [GRCh38]
Chr12:21995261 [GRCh37]
Chr12:12p12.1
pathogenic
NM_005691.3(ABCC9):c.3604A>G (p.Thr1202Ala) single nucleotide variant not provided [RCV000183227] Chr12:21829023 [GRCh38]
Chr12:21981957 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3783T>A (p.Tyr1261Ter) single nucleotide variant not provided [RCV000183228] Chr12:21817296 [GRCh38]
Chr12:21970230 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1252G>A (p.Ala418Thr) single nucleotide variant not provided [RCV000183230] Chr12:21910225 [GRCh38]
Chr12:22063159 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.1849G>A (p.Asp617Asn) single nucleotide variant Dilated cardiomyopathy 1O [RCV000797250]|not provided [RCV000183231] Chr12:21887888 [GRCh38]
Chr12:22040822 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2019G>A (p.Lys673=) single nucleotide variant not provided [RCV000183232] Chr12:21882766 [GRCh38]
Chr12:22035700 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2197A>G (p.Asn733Asp) single nucleotide variant Dilated cardiomyopathy 1O [RCV001056033]|not provided [RCV000183233] Chr12:21872626 [GRCh38]
Chr12:22025560 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3014A>T (p.His1005Leu) single nucleotide variant not provided [RCV000183234] Chr12:21845685 [GRCh38]
Chr12:21998619 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.3473+4A>G single nucleotide variant not provided [RCV000183236] Chr12:21842310 [GRCh38]
Chr12:21995244 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3557G>A (p.Arg1186Gln) single nucleotide variant not provided [RCV000183237] Chr12:21838087 [GRCh38]
Chr12:21991021 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3896C>T (p.Pro1299Leu) single nucleotide variant not provided [RCV000183238] Chr12:21815890 [GRCh38]
Chr12:21968824 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3201del (p.Leu1068fs) deletion not provided [RCV000183239] Chr12:21844811 [GRCh38]
Chr12:21997745 [GRCh37]
Chr12:12p12.1
uncertain significance
Single allele duplication not provided [RCV000180286] Chr12:22063251..22063252 [GRCh37] uncertain significance
NM_020297.3(ABCC9):c.285-16G>A single nucleotide variant not specified [RCV000183225] Chr12:21926079 [GRCh38]
Chr12:22079013 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.2826T>C (p.Tyr942=) single nucleotide variant Cardiomyopathy [RCV000770397]|Cardiovascular phenotype [RCV000617796]|Dilated cardiomyopathy 1O [RCV000475996]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000261420]|not specified [RCV000183226] Chr12:21848190 [GRCh38]
Chr12:22001124 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.4512+777G>A single nucleotide variant not provided [RCV000177943] Chr12:21805221 [GRCh38]
Chr12:21958155 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4 copy number gain See cases [RCV000240164] Chr12:148034..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic|likely pathogenic
NM_005691.3(ABCC9):c.3650G>A (p.Arg1217Lys) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000656401] Chr12:21828977 [GRCh38]
Chr12:21981911 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.3772-4A>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000548465] Chr12:21817311 [GRCh38]
Chr12:21970245 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.1985T>C (p.Leu662Pro) single nucleotide variant Primary dilated cardiomyopathy [RCV000208057] Chr12:21882800 [GRCh38]
Chr12:22035734 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.4637G>T (p.Arg1546Leu) single nucleotide variant Primary dilated cardiomyopathy [RCV000208118] Chr12:21801057 [GRCh38]
Chr12:21953991 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1884del (p.Phe628fs) deletion Arrhythmogenic right ventricular cardiomyopathy [RCV000208233] Chr12:21887853 [GRCh38]
Chr12:22040787 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3284G>A (p.Arg1095His) single nucleotide variant Primary dilated cardiomyopathy [RCV000208244] Chr12:21844514 [GRCh38]
Chr12:21997448 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4570_4572delinsAAAT (p.Leu1524fs) indel Arrhythmogenic right ventricular cardiomyopathy [RCV000449617]|Cardiovascular phenotype [RCV000617732]|Dilated cardiomyopathy 1O [RCV000470248]|Primary dilated cardiomyopathy [RCV000208420]|not provided [RCV000786079]|not specified [RCV000601900] Chr12:21805252..21805254 [GRCh38]
Chr12:21958186..21958188 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.2663G>T (p.Gly888Val) single nucleotide variant Ductal breast carcinoma [RCV000207134] Chr12:21852203 [GRCh38]
Chr12:22005137 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.*5G>C single nucleotide variant not specified [RCV000219546] Chr12:21801039 [GRCh38]
Chr12:21953973 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2547T>C (p.His849=) single nucleotide variant not specified [RCV000219714] Chr12:21852464 [GRCh38]
Chr12:22005398 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.406+14C>G single nucleotide variant not specified [RCV000213223] Chr12:21925928 [GRCh38]
Chr12:22078862 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3993C>T (p.His1331=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000458239]|not specified [RCV000217513] Chr12:21815793 [GRCh38]
Chr12:21968727 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3030T>C (p.Ala1010=) single nucleotide variant Cardiovascular phenotype [RCV000247975]|Dilated cardiomyopathy 1O [RCV000458152]|not specified [RCV000213474] Chr12:21845669 [GRCh38]
Chr12:21998603 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.2157C>T (p.Leu719=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000552042] Chr12:21872666 [GRCh38]
Chr12:22025600 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4591C>T (p.Pro1531Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000474358]|not specified [RCV000215884] Chr12:21805233 [GRCh38]
Chr12:21958167 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3729G>A (p.Ser1243=) single nucleotide variant Cardiomyopathy [RCV000769374]|Dilated cardiomyopathy 1O [RCV000536972]|not specified [RCV000220794] Chr12:21818192 [GRCh38]
Chr12:21971126 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.852T>A (p.Ser284=) single nucleotide variant not provided [RCV000868028]|not specified [RCV000220885] Chr12:21913031 [GRCh38]
Chr12:22065965 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3474-14C>T single nucleotide variant not specified [RCV000216451] Chr12:21838184 [GRCh38]
Chr12:21991118 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2199-13G>A single nucleotide variant not provided [RCV000786076]|not specified [RCV000214647] Chr12:21864490 [GRCh38]
Chr12:22017424 [GRCh37]
Chr12:12p12.1
conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1933A>G (p.Lys645Glu) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640320]|not specified [RCV000221331] Chr12:21882852 [GRCh38]
Chr12:22035786 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1212C>T (p.Ser404=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640340]|not specified [RCV000216754] Chr12:21910265 [GRCh38]
Chr12:22063199 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4519G>A (p.Val1507Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000689280]|not specified [RCV000223194] Chr12:21805305 [GRCh38]
Chr12:21958239 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1164+10G>A single nucleotide variant not specified [RCV000223300] Chr12:21910816 [GRCh38]
Chr12:22063750 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.-14_-8del deletion not specified [RCV000221594] Chr12:21936682..21936688 [GRCh38]
Chr12:22089616..22089622 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3316-4A>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000228445]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112338] Chr12:21842475 [GRCh38]
Chr12:21995409 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.4353T>C (p.Val1451=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000231408] Chr12:21807442 [GRCh38]
Chr12:21960376 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.826G>A (p.Ala276Thr) single nucleotide variant Cardiovascular phenotype [RCV000254529]|not specified [RCV000223814] Chr12:21913057 [GRCh38]
Chr12:22065991 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1165-2A>G single nucleotide variant Dilated cardiomyopathy 1O [RCV000230989] Chr12:21910314 [GRCh38]
Chr12:22063248 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1043T>G (p.Leu348Arg) single nucleotide variant Cardiovascular phenotype [RCV000252786]|not specified [RCV000223730] Chr12:21910947 [GRCh38]
Chr12:22063881 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1012-1G>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000227165] Chr12:21910979 [GRCh38]
Chr12:22063913 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2630C>T (p.Thr877Met) single nucleotide variant Dilated cardiomyopathy 1O [RCV000233942] Chr12:21852381 [GRCh38]
Chr12:22005315 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1975A>G (p.Thr659Ala) single nucleotide variant Dilated cardiomyopathy 1O [RCV000227266] Chr12:21882810 [GRCh38]
Chr12:22035744 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3095A>G (p.Gln1032Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV000234747] Chr12:21845604 [GRCh38]
Chr12:21998538 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1616C>G (p.Ser539Cys) single nucleotide variant not provided [RCV000756943] Chr12:21906128 [GRCh38]
Chr12:22059062 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2848A>T (p.Met950Leu) single nucleotide variant not provided [RCV000756945] Chr12:21848168 [GRCh38]
Chr12:22001102 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1859G>A (p.Arg620Gln) single nucleotide variant Dilated cardiomyopathy 1B [RCV000623111]|Dilated cardiomyopathy 1O [RCV001059888] Chr12:21887878 [GRCh38]
Chr12:22040812 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1577T>G (p.Leu526Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV000526529] Chr12:21906167 [GRCh38]
Chr12:22059101 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4604C>A (p.Ala1535Asp) single nucleotide variant Hypertrophic cardiomyopathy [RCV000999582] Chr12:21805220 [GRCh38]
Chr12:21958154 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.337G>A (p.Val113Ile) single nucleotide variant Dilated cardiomyopathy 1B [RCV000622569] Chr12:21926011 [GRCh38]
Chr12:22078945 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.2769+28A>C single nucleotide variant not provided [RCV000830237]|not specified [RCV000248671] Chr12:21852069 [GRCh38]
Chr12:22005003 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.406+38A>C single nucleotide variant not specified [RCV000253614] Chr12:21925904 [GRCh38]
Chr12:22078838 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.1320+1G>A single nucleotide variant ABCC9-Related Disorders [RCV000779100]|Cardiovascular phenotype [RCV000253734]|not provided [RCV000578802] Chr12:21910156 [GRCh38]
Chr12:22063090 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.971G>A (p.Arg324His) single nucleotide variant Cardiovascular phenotype [RCV000241661] Chr12:21912912 [GRCh38]
Chr12:22065846 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3076A>G (p.Asn1026Asp) single nucleotide variant Cardiovascular phenotype [RCV000241674] Chr12:21845623 [GRCh38]
Chr12:21998557 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1164+23= single nucleotide variant not specified [RCV000246623] Chr12:21910803 [GRCh38]
Chr12:22063737 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.3057A>G (p.Thr1019=) single nucleotide variant Cardiovascular phenotype [RCV000244603] Chr12:21845642 [GRCh38]
Chr12:21998576 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2238-4T>C single nucleotide variant Cardiovascular phenotype [RCV000249910] Chr12:21863058 [GRCh38]
Chr12:22015992 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1919A>G (p.Lys640Arg) single nucleotide variant not provided [RCV000521874] Chr12:21882866 [GRCh38]
Chr12:22035800 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3 copy number gain See cases [RCV000240487] Chr12:89061..34178799 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_020297.3(ABCC9):c.2355A>T (p.Thr785=) single nucleotide variant not specified [RCV000247633] Chr12:21861040 [GRCh38]
Chr12:22013974 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.1660-43C>A single nucleotide variant not specified [RCV000243169] Chr12:21894217 [GRCh38]
Chr12:22047151 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.2238-17del deletion Dilated Cardiomyopathy, Dominant [RCV000379853]|Familial atrial fibrillation [RCV000325196]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000266793]|not specified [RCV000600796] Chr12:21863071 [GRCh38]
Chr12:22016005 [GRCh37]
Chr12:12p12.1
benign|likely benign
NM_005691.3(ABCC9):c.669G>T (p.Leu223=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000399119]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000285671] Chr12:21915815 [GRCh38]
Chr12:22068749 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2769+12T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000345025]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000287591] Chr12:21852085 [GRCh38]
Chr12:22005019 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.842G>A (p.Arg281Gln) single nucleotide variant Cardiomyopathy [RCV001171151]|Dilated cardiomyopathy 1O [RCV000289105]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000380097] Chr12:21913041 [GRCh38]
Chr12:22065975 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1992C>T (p.Pro664=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000312335]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000351877] Chr12:21882793 [GRCh38]
Chr12:22035727 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1332C>T (p.Gly444=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000467021]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000295621] Chr12:21908200 [GRCh38]
Chr12:22061134 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1165-7_1165-6del deletion Dilated Cardiomyopathy, Dominant [RCV000259993]|Familial atrial fibrillation [RCV000369803]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000333783]|not provided [RCV000860810] Chr12:21910318..21910319 [GRCh38]
Chr12:22063252..22063253 [GRCh37]
Chr12:12p12.1
benign|uncertain significance
NM_005691.3(ABCC9):c.75T>C (p.Phe25=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000372522]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000296553] Chr12:21936600 [GRCh38]
Chr12:22089534 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1659+10T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000264612]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000320105]|not specified [RCV000605396] Chr12:21895265 [GRCh38]
Chr12:22048199 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.2238-16del deletion Dilated Cardiomyopathy, Dominant [RCV000270387]|Familial atrial fibrillation [RCV000364966]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000310171] Chr12:21863070 [GRCh38]
Chr12:22016004 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.146G>C (p.Trp49Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000281417]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000320964] Chr12:21933920 [GRCh38]
Chr12:22086854 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3669+10T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000406744]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000365498] Chr12:21828948 [GRCh38]
Chr12:21981882 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.366T>C (p.Tyr122=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000265735]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000324568] Chr12:21925982 [GRCh38]
Chr12:22078916 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.970C>T (p.Arg324Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV000554362]|not provided [RCV000293914] Chr12:21912913 [GRCh38]
Chr12:22065847 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1670C>G (p.Thr557Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000362847]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000268147] Chr12:21894164 [GRCh38]
Chr12:22047098 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.878T>C (p.Phe293Ser) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000408624] Chr12:21913005 [GRCh38]
Chr12:22065939 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_020297.3(ABCC9):c.305T>C (p.Leu102Pro) single nucleotide variant Dilated cardiomyopathy 1O [RCV001087263]|not provided [RCV000767047]|not specified [RCV000490221] Chr12:21926043 [GRCh38]
Chr12:22078977 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.3070A>G (p.Ile1024Val) single nucleotide variant Dilated cardiomyopathy 1O [RCV001065670]|not provided [RCV000519771]|not specified [RCV001193519] Chr12:21845629 [GRCh38]
Chr12:21998563 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1942G>C (p.Gly648Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV000526827] Chr12:21882843 [GRCh38]
Chr12:22035777 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3572A>G (p.Glu1191Gly) single nucleotide variant not provided [RCV000523283] Chr12:21829055 [GRCh38]
Chr12:21981989 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2557G>A (p.Glu853Lys) single nucleotide variant Dilated cardiomyopathy 1O [RCV001067581]|not provided [RCV000523046] Chr12:21852454 [GRCh38]
Chr12:22005388 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4316-14T>G single nucleotide variant Dilated Cardiomyopathy, Dominant [RCV000401822]|Familial atrial fibrillation [RCV000285825]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000343054] Chr12:21807493 [GRCh38]
Chr12:21960427 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.466T>C (p.Cys156Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV000351815]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000296963] Chr12:21917044 [GRCh38]
Chr12:22069978 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1165-4del deletion Dilated Cardiomyopathy, Dominant [RCV000287517]|Familial atrial fibrillation [RCV000401977]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000342593] Chr12:21910316 [GRCh38]
Chr12:22063250 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3462G>A (p.Arg1154=) single nucleotide variant not specified [RCV000605363] Chr12:21842325 [GRCh38]
Chr12:21995259 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.6C>T (p.Ser2=) single nucleotide variant Dilated cardiomyopathy 1O [RCV001112620]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112619]|not specified [RCV000605371] Chr12:21936669 [GRCh38]
Chr12:22089603 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_020297.3(ABCC9):c.2703C>T (p.Thr901=) single nucleotide variant not specified [RCV000605392] Chr12:21852163 [GRCh38]
Chr12:22005097 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3556C>T (p.Arg1186Trp) single nucleotide variant Dilated cardiomyopathy 1O [RCV000312032]|Hypertrichotic osteochondrodysplasia Cantu type [RCV000406748] Chr12:21838088 [GRCh38]
Chr12:21991022 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.928C>T (p.Leu310=) single nucleotide variant Cardiovascular phenotype [RCV000617286] Chr12:21912955 [GRCh38]
Chr12:22065889 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3772-16T>C single nucleotide variant not specified [RCV000606886] Chr12:21817323 [GRCh38]
Chr12:21970257 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2784C>G (p.Asp928Glu) single nucleotide variant Dilated cardiomyopathy 1O [RCV000553400] Chr12:21848232 [GRCh38]
Chr12:22001166 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.3772-10C>T single nucleotide variant not provided [RCV000588401] Chr12:21817317 [GRCh38]
Chr12:21970251 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2965G>A (p.Gly989Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV000806291] Chr12:21845734 [GRCh38]
Chr12:21998668 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.599_601delinsCTG (p.Gln200_Lys201delinsProGlu) indel not specified [RCV000522290] Chr12:21915883..21915885 [GRCh38]
Chr12:22068817..22068819 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.136T>C (p.Phe46Leu) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640319] Chr12:21936539 [GRCh38]
Chr12:22089473 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1524T>C (p.Tyr508=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640334] Chr12:21906220 [GRCh38]
Chr12:22059154 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1374C>T (p.Val458=) single nucleotide variant Dilated cardiomyopathy 1O [RCV001110550]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001110551]|not provided [RCV000640339] Chr12:21908158 [GRCh38]
Chr12:22061092 [GRCh37]
Chr12:12p12.1
benign|uncertain significance
NM_005691.3(ABCC9):c.1011+7T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000640344] Chr12:21912865 [GRCh38]
Chr12:22065799 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3063G>A (p.Glu1021=) single nucleotide variant not specified [RCV000586964] Chr12:21845636 [GRCh38]
Chr12:21998570 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.2865A>T (p.Glu955Asp) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640322] Chr12:21848151 [GRCh38]
Chr12:22001085 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2500T>C (p.Phe834Leu) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640325] Chr12:21859591 [GRCh38]
Chr12:22012525 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1416T>C (p.Phe472=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640342] Chr12:21908116 [GRCh38]
Chr12:22061050 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1879C>G (p.Pro627Ala) single nucleotide variant Dilated cardiomyopathy 1O [RCV000539256] Chr12:21887858 [GRCh38]
Chr12:22040792 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1988G>A (p.Arg663His) single nucleotide variant Dilated cardiomyopathy 1O [RCV000862251]|not specified [RCV000413839] Chr12:21882797 [GRCh38]
Chr12:22035731 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)x3 copy number gain See cases [RCV000449191] Chr12:173786..37869301 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)x3 copy number gain See cases [RCV000449287] Chr12:173786..25286865 [GRCh37]
Chr12:12p13.33-12.1
pathogenic
GRCh37/hg19 12p12.1(chr12:22023587-22086710)x1 copy number loss See cases [RCV000449230] Chr12:22023587..22086710 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain See cases [RCV000447551] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_020297.3(ABCC9):c.2607G>A (p.Val869=) single nucleotide variant not specified [RCV000444979] Chr12:21852404 [GRCh38]
Chr12:22005338 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.407-13T>C single nucleotide variant not specified [RCV000424001] Chr12:21917116 [GRCh38]
Chr12:22070050 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2019+14C>T single nucleotide variant not specified [RCV000445335] Chr12:21882752 [GRCh38]
Chr12:22035686 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2339+17A>T single nucleotide variant not specified [RCV000431694] Chr12:21862936 [GRCh38]
Chr12:22015870 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1501G>A (p.Gly501Ser) single nucleotide variant not provided [RCV000442007] Chr12:21906243 [GRCh38]
Chr12:22059177 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.*19T>C single nucleotide variant not specified [RCV000428222] Chr12:21801025 [GRCh38]
Chr12:21953959 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.3814C>G (p.Leu1272Val) single nucleotide variant not provided [RCV000418651] Chr12:21817265 [GRCh38]
Chr12:21970199 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2198+6T>C single nucleotide variant not provided [RCV000418674] Chr12:21872619 [GRCh38]
Chr12:22025553 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2608A>T (p.Thr870Ser) single nucleotide variant not provided [RCV000421316] Chr12:21852403 [GRCh38]
Chr12:22005337 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.1455T>G (p.Leu485=) single nucleotide variant not specified [RCV000418944] Chr12:21908077 [GRCh38]
Chr12:22061011 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3246-10T>C single nucleotide variant not specified [RCV000428705] Chr12:21844562 [GRCh38]
Chr12:21997496 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4512+16C>T single nucleotide variant not specified [RCV000439158] Chr12:21805982 [GRCh38]
Chr12:21958916 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.3097-15T>A single nucleotide variant not specified [RCV000419064] Chr12:21844930 [GRCh38]
Chr12:21997864 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3739T>C (p.Leu1247=) single nucleotide variant not specified [RCV000428788] Chr12:21818182 [GRCh38]
Chr12:21971116 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3590G>A (p.Arg1197His) single nucleotide variant Cardiovascular phenotype [RCV000620662]|Dilated cardiomyopathy 1O [RCV000548252]|not provided [RCV000428844] Chr12:21829037 [GRCh38]
Chr12:21981971 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3831T>A (p.Gly1277=) single nucleotide variant not specified [RCV000428858] Chr12:21817248 [GRCh38]
Chr12:21970182 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3309T>A (p.Ile1103=) single nucleotide variant not specified [RCV000435701] Chr12:21844489 [GRCh38]
Chr12:21997423 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3221A>G (p.Asn1074Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV001042447]|not provided [RCV000419299] Chr12:21844791 [GRCh38]
Chr12:21997725 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4407T>G (p.Ile1469Met) single nucleotide variant not provided [RCV000426029] Chr12:21807388 [GRCh38]
Chr12:21960322 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.3347G>T (p.Arg1116Leu) single nucleotide variant not provided [RCV000426515] Chr12:21842440 [GRCh38]
Chr12:21995374 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_020297.3(ABCC9):c.4188A>G (p.Pro1396=) single nucleotide variant not specified [RCV000422294] Chr12:21812072 [GRCh38]
Chr12:21965006 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.231C>T (p.Phe77=) single nucleotide variant not specified [RCV000429330] Chr12:21933835 [GRCh38]
Chr12:22086769 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2093-7T>G single nucleotide variant not specified [RCV000443365] Chr12:21872737 [GRCh38]
Chr12:22025671 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.142+19T>A single nucleotide variant not specified [RCV000429651] Chr12:21936514 [GRCh38]
Chr12:22089448 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2470C>T (p.Arg824Ter) single nucleotide variant not provided [RCV000420026] Chr12:21859621 [GRCh38]
Chr12:22012555 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.1638T>C (p.Ile546=) single nucleotide variant not specified [RCV000422667] Chr12:21895296 [GRCh38]
Chr12:22048230 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.574-18G>A single nucleotide variant not specified [RCV000429883] Chr12:21915928 [GRCh38]
Chr12:22068862 [GRCh37]
Chr12:12p12.1
likely benign
GRCh37/hg19 12p12.3-11.23(chr12:18037107-26681362)x3 copy number gain See cases [RCV000446008] Chr12:18037107..26681362 [GRCh37]
Chr12:12p12.3-11.23
pathogenic
NM_020297.3(ABCC9):c.324C>T (p.Ala108=) single nucleotide variant not provided [RCV000873674]|not specified [RCV000429912] Chr12:21926024 [GRCh38]
Chr12:22078958 [GRCh37]
Chr12:12p12.1
likely benign
GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150) copy number gain See cases [RCV000446017] Chr12:189578..34756150 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_020297.3(ABCC9):c.142+10C>A single nucleotide variant Dilated cardiomyopathy 1O [RCV000864379]|not specified [RCV000426612] Chr12:21936523 [GRCh38]
Chr12:22089457 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.1619-7T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000474391]|not specified [RCV000444611] Chr12:21895322 [GRCh38]
Chr12:22048256 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2457A>G (p.Arg819=) single nucleotide variant not specified [RCV000427031] Chr12:21859634 [GRCh38]
Chr12:22012568 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4344T>C (p.Asn1448=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000470833]|not specified [RCV000430672] Chr12:21807451 [GRCh38]
Chr12:21960385 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.284+14G>C single nucleotide variant not specified [RCV000444675] Chr12:21933768 [GRCh38]
Chr12:22086702 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2378A>T (p.Asp793Val) single nucleotide variant not provided [RCV000441926] Chr12:21861017 [GRCh38]
Chr12:22013951 [GRCh37]
Chr12:12p12.1
likely pathogenic
GRCh37/hg19 12p12.2-12.1(chr12:20837998-22734873)x3 copy number gain See cases [RCV000448036] Chr12:20837998..22734873 [GRCh37]
Chr12:12p12.2-12.1
likely pathogenic
NM_005691.3(ABCC9):c.2408C>T (p.Thr803Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000456615] Chr12:21860987 [GRCh38]
Chr12:22013921 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.817-14_817-4del microsatellite Cardiomyopathy [RCV000769382]|Dilated cardiomyopathy 1O [RCV000463218] Chr12:21913070..21913080 [GRCh38]
Chr12:22066004..22066014 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.3440A>G (p.Tyr1147Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV000463262] Chr12:21842347 [GRCh38]
Chr12:21995281 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.215G>A (p.Arg72Lys) single nucleotide variant Dilated cardiomyopathy 1O [RCV000466921] Chr12:21933851 [GRCh38]
Chr12:22086785 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3994G>A (p.Val1332Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000459841] Chr12:21815792 [GRCh38]
Chr12:21968726 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.2045G>A (p.Gly682Asp) single nucleotide variant Cardiomyopathy [RCV001170965]|Dilated cardiomyopathy 1O [RCV000471137] Chr12:21875701 [GRCh38]
Chr12:22028635 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2599G>A (p.Val867Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000474937]|not provided [RCV000756944] Chr12:21852412 [GRCh38]
Chr12:22005346 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3331T>C (p.Leu1111=) single nucleotide variant Dilated cardiomyopathy 1O [RCV001080261]|not provided [RCV000456393] Chr12:21842456 [GRCh38]
Chr12:21995390 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1817A>C (p.Asn606Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV000460266] Chr12:21887920 [GRCh38]
Chr12:22040854 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1127C>T (p.Thr376Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000476328] Chr12:21910863 [GRCh38]
Chr12:22063797 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3841_3842delinsGT (p.Lys1281Val) indel not specified [RCV000481716] Chr12:21817237..21817238 [GRCh38]
Chr12:21970171..21970172 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2927A>T (p.Lys976Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV001087332]|not provided [RCV000486310] Chr12:21845772 [GRCh38]
Chr12:21998706 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.4497C>T (p.Thr1499=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000461598] Chr12:21806013 [GRCh38]
Chr12:21958947 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3893-3C>T single nucleotide variant Dilated cardiomyopathy 1O [RCV000472795] Chr12:21815896 [GRCh38]
Chr12:21968830 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3589C>T (p.Arg1197Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV001087357]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001109591]|not provided [RCV000786077] Chr12:21829038 [GRCh38]
Chr12:21981972 [GRCh37]
Chr12:12p12.1
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_005691.3(ABCC9):c.1375G>A (p.Gly459Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000461842] Chr12:21908157 [GRCh38]
Chr12:22061091 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.377A>G (p.Glu126Gly) single nucleotide variant Dilated cardiomyopathy 1O [RCV000469489] Chr12:21925971 [GRCh38]
Chr12:22078905 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1385T>C (p.Val462Ala) single nucleotide variant not provided [RCV000486887] Chr12:21908147 [GRCh38]
Chr12:22061081 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.3637T>G (p.Ser1213Ala) single nucleotide variant not provided [RCV000487267] Chr12:21828990 [GRCh38]
Chr12:21981924 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.3982G>A (p.Val1328Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000466399] Chr12:21815804 [GRCh38]
Chr12:21968738 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3267G>A (p.Leu1089=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000469961] Chr12:21844531 [GRCh38]
Chr12:21997465 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.3656T>G (p.Leu1219Arg) single nucleotide variant not provided [RCV000480387] Chr12:21828971 [GRCh38]
Chr12:21981905 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_005691.3(ABCC9):c.1305G>A (p.Trp435Ter) single nucleotide variant not provided [RCV000498694] Chr12:21910172 [GRCh38]
Chr12:22063106 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_005691.3(ABCC9):c.881G>A (p.Gly294Glu) single nucleotide variant not specified [RCV000504050] Chr12:21913002 [GRCh38]
Chr12:22065936 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2878G>C (p.Glu960Gln) single nucleotide variant Prolonged QT interval [RCV000497552] Chr12:21845821 [GRCh38]
Chr12:21998755 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1618+2T>G single nucleotide variant not provided [RCV000497369] Chr12:21906124 [GRCh38]
Chr12:22059058 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4492C>T (p.Arg1498Trp) single nucleotide variant not provided [RCV000497884] Chr12:21806018 [GRCh38]
Chr12:21958952 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.4512+742dup duplication not specified [RCV000508315] Chr12:21805252..21805253 [GRCh38]
Chr12:21958190 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2951G>A (p.Arg984His) single nucleotide variant not provided [RCV000494347] Chr12:21845748 [GRCh38]
Chr12:21998682 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.614C>T (p.Pro205Leu) single nucleotide variant not specified [RCV000506718] Chr12:21915870 [GRCh38]
Chr12:22068804 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3 copy number gain See cases [RCV000511580] Chr12:565369..34835837 [GRCh37]
Chr12:12p13.33-11.1
likely pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
NM_005691.3(ABCC9):c.1911+2T>C single nucleotide variant not provided [RCV000492869] Chr12:21887824 [GRCh38]
Chr12:22040758 [GRCh37]
Chr12:12p12.1
likely pathogenic
GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3 copy number gain See cases [RCV000510961] Chr12:173786..28219229 [GRCh37]
Chr12:12p13.33-11.22
pathogenic
NM_005691.3(ABCC9):c.4014T>C (p.Pro1338=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000541748] Chr12:21815772 [GRCh38]
Chr12:21968706 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2019+2T>C single nucleotide variant Wolff-Parkinson-White pattern [RCV000656167] Chr12:21882764 [GRCh38]
Chr12:22035698 [GRCh37]
Chr12:12p12.1
likely pathogenic
NM_020297.3(ABCC9):c.2524C>T (p.Leu842=) single nucleotide variant not specified [RCV000602617] Chr12:21852487 [GRCh38]
Chr12:22005421 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2769+13A>G single nucleotide variant not specified [RCV000601454] Chr12:21852084 [GRCh38]
Chr12:22005018 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3018G>A (p.Ser1006=) single nucleotide variant Cardiovascular phenotype [RCV000617968]|Dilated cardiomyopathy 1O [RCV000865970] Chr12:21845681 [GRCh38]
Chr12:21998615 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3315+6T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000534274] Chr12:21844477 [GRCh38]
Chr12:21997411 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2574C>T (p.Phe858=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640331] Chr12:21852437 [GRCh38]
Chr12:22005371 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4512T>A (p.Ala1504=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000823019]|not specified [RCV000603420] Chr12:21805998 [GRCh38]
Chr12:21958932 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_020297.3(ABCC9):c.4102+17A>T single nucleotide variant not specified [RCV000603573] Chr12:21814627 [GRCh38]
Chr12:21967561 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4535C>T (p.Thr1512Met) single nucleotide variant Dilated cardiomyopathy 1O [RCV000578509] Chr12:21801159 [GRCh38]
Chr12:21954093 [GRCh37]
Chr12:12p12.1
not provided
NM_005691.3(ABCC9):c.133T>C (p.Leu45=) single nucleotide variant Dilated cardiomyopathy 1O [RCV001110637]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001110638]|not provided [RCV000640336]|not specified [RCV000602977] Chr12:21936542 [GRCh38]
Chr12:22089476 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.256G>C (p.Glu86Gln) single nucleotide variant Cardiovascular phenotype [RCV000617768] Chr12:21933810 [GRCh38]
Chr12:22086744 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2857G>A (p.Glu953Lys) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640326] Chr12:21848159 [GRCh38]
Chr12:22001093 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2011G>A (p.Ala671Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640327] Chr12:21882774 [GRCh38]
Chr12:22035708 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3999G>A (p.Lys1333=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640333] Chr12:21815787 [GRCh38]
Chr12:21968721 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3567-19_3567-13del deletion not specified [RCV000612355] Chr12:21829073..21829079 [GRCh38]
Chr12:21982007..21982013 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.1619-10C>A single nucleotide variant not specified [RCV000612371] Chr12:21895325 [GRCh38]
Chr12:22048259 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2092+5G>A single nucleotide variant not specified [RCV000605752] Chr12:21875649 [GRCh38]
Chr12:22028583 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4517G>A (p.Arg1506His) single nucleotide variant Cardiovascular phenotype [RCV000617681] Chr12:21805307 [GRCh38]
Chr12:21958241 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.4512+7A>G single nucleotide variant Dilated cardiomyopathy 1O [RCV000820193]|not specified [RCV000615941] Chr12:21805991 [GRCh38]
Chr12:21958925 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_005691.3(ABCC9):c.3357G>A (p.Leu1119=) single nucleotide variant Cardiomyopathy [RCV000769377]|Cardiovascular phenotype [RCV000618171]|Dilated cardiomyopathy 1O [RCV000640332]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001111874]|not specified [RCV000611563] Chr12:21842430 [GRCh38]
Chr12:21995364 [GRCh37]
Chr12:12p12.1
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_020297.3(ABCC9):c.4211+10A>G single nucleotide variant not specified [RCV000601910] Chr12:21812039 [GRCh38]
Chr12:21964973 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.1425A>G (p.Thr475=) single nucleotide variant not specified [RCV000616060] Chr12:21908107 [GRCh38]
Chr12:22061041 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4320G>A (p.Ala1440=) single nucleotide variant not specified [RCV000610274] Chr12:21807475 [GRCh38]
Chr12:21960409 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2856C>T (p.Asp952=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640337]|not specified [RCV000610289] Chr12:21848160 [GRCh38]
Chr12:22001094 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.837A>G (p.Pro279=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640341]|not specified [RCV000613167] Chr12:21913046 [GRCh38]
Chr12:22065980 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1381G>C (p.Ala461Pro) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640330] Chr12:21908151 [GRCh38]
Chr12:22061085 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.2022C>T (p.Val674=) single nucleotide variant not specified [RCV000610538] Chr12:21875724 [GRCh38]
Chr12:22028658 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.1062A>G (p.Leu354=) single nucleotide variant not specified [RCV000610677] Chr12:21910928 [GRCh38]
Chr12:22063862 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.816+13_816+14del deletion not specified [RCV000613396] Chr12:21915654..21915655 [GRCh38]
Chr12:22068588..22068589 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.816+10C>T single nucleotide variant not specified [RCV000613424] Chr12:21915658 [GRCh38]
Chr12:22068592 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3566+15T>C single nucleotide variant not specified [RCV000613545] Chr12:21838063 [GRCh38]
Chr12:21990997 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.573+19T>C single nucleotide variant not specified [RCV000600840] Chr12:21916918 [GRCh38]
Chr12:22069852 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4332A>G (p.Glu1444=) single nucleotide variant not specified [RCV000608495] Chr12:21807463 [GRCh38]
Chr12:21960397 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2746C>T (p.Arg916Trp) single nucleotide variant not provided [RCV000786078]|not specified [RCV000611084] Chr12:21852120 [GRCh38]
Chr12:22005054 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_020297.3(ABCC9):c.3060G>A (p.Ser1020=) single nucleotide variant not specified [RCV000611105] Chr12:21845639 [GRCh38]
Chr12:21998573 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4366C>T (p.Leu1456=) single nucleotide variant not specified [RCV000611189] Chr12:21807429 [GRCh38]
Chr12:21960363 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.2867-5T>C single nucleotide variant Dilated cardiomyopathy 1O [RCV000867899]|not specified [RCV000611321] Chr12:21845837 [GRCh38]
Chr12:21998771 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.448A>G (p.Ile150Val) single nucleotide variant Wolff-Parkinson-White pattern [RCV000656179] Chr12:21917062 [GRCh38]
Chr12:22069996 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1979G>A (p.Arg660Gln) single nucleotide variant Dilated cardiomyopathy 1O [RCV000539425] Chr12:21882806 [GRCh38]
Chr12:22035740 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3574A>G (p.Thr1192Ala) single nucleotide variant Dilated cardiomyopathy 1O [RCV000535621]|not provided [RCV000994866] Chr12:21829053 [GRCh38]
Chr12:21981987 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
NM_020297.3(ABCC9):c.3315+17C>T single nucleotide variant not specified [RCV000612069] Chr12:21844466 [GRCh38]
Chr12:21997400 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.4315+11T>C single nucleotide variant not specified [RCV000614844] Chr12:21809841 [GRCh38]
Chr12:21962775 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.1194C>T (p.Leu398=) single nucleotide variant Cardiovascular phenotype [RCV000619733] Chr12:21910283 [GRCh38]
Chr12:22063217 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.1455+10A>G single nucleotide variant not specified [RCV000605276] Chr12:21908067 [GRCh38]
Chr12:22061001 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1993G>A (p.Ala665Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640321] Chr12:21882792 [GRCh38]
Chr12:22035726 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.959G>T (p.Gly320Val) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640323] Chr12:21912924 [GRCh38]
Chr12:22065858 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2072T>C (p.Ile691Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640324] Chr12:21875674 [GRCh38]
Chr12:22028608 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4A>G (p.Ser2Gly) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640328] Chr12:21936671 [GRCh38]
Chr12:22089605 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2198+3A>G single nucleotide variant Dilated cardiomyopathy 1O [RCV000640329] Chr12:21872622 [GRCh38]
Chr12:22025556 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1785A>G (p.Ala595=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000640338] Chr12:21894049 [GRCh38]
Chr12:22046983 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3669+7T>A single nucleotide variant not specified [RCV000605536] Chr12:21828951 [GRCh38]
Chr12:21981885 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2285T>G (p.Leu762Ter) single nucleotide variant Cardiovascular phenotype [RCV000621168] Chr12:21863007 [GRCh38]
Chr12:22015941 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2190C>A (p.His730Gln) single nucleotide variant Cardiovascular phenotype [RCV000617611]|Dilated cardiomyopathy 1B [RCV000624030] Chr12:21872633 [GRCh38]
Chr12:22025567 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.558T>C (p.Asn186=) single nucleotide variant Cardiovascular phenotype [RCV000617355] Chr12:21916952 [GRCh38]
Chr12:22069886 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1455+4A>C single nucleotide variant Cardiovascular phenotype [RCV000617511]|Dilated cardiomyopathy 1O [RCV001110549]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001110548] Chr12:21908073 [GRCh38]
Chr12:22061007 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3698C>T (p.Thr1233Ile) single nucleotide variant not provided [RCV000658371] Chr12:21818223 [GRCh38]
Chr12:21971157 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1012-2A>G single nucleotide variant not provided [RCV000658389] Chr12:21910980 [GRCh38]
Chr12:22063914 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2312C>T (p.Thr771Ile) single nucleotide variant Hypertrichotic osteochondrodysplasia Cantu type [RCV000765079]|not provided [RCV000658420] Chr12:21862980 [GRCh38]
Chr12:22015914 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1805T>C (p.Val602Ala) single nucleotide variant not provided [RCV000658350] Chr12:21887932 [GRCh38]
Chr12:22040866 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3 copy number gain not provided [RCV000683480] Chr12:173786..37869107 [GRCh37]
Chr12:12p13.33-q11
pathogenic
GRCh37/hg19 12p12.1(chr12:21755837-22023573)x3 copy number gain not provided [RCV000683414] Chr12:21755837..22023573 [GRCh37]
Chr12:12p12.1
likely benign|uncertain significance
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3 copy number gain not provided [RCV000683478] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3 copy number gain not provided [RCV000683479] Chr12:173786..34835837 [GRCh37]
Chr12:12p13.33-11.1
pathogenic
NM_005691.3(ABCC9):c.457G>A (p.Val153Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000692740] Chr12:21917053 [GRCh38]
Chr12:22069987 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.483C>G (p.Asp161Glu) single nucleotide variant Dilated cardiomyopathy 1O [RCV000694577] Chr12:21917027 [GRCh38]
Chr12:22069961 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1022C>T (p.Thr341Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV000705292] Chr12:21910968 [GRCh38]
Chr12:22063902 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2643+6A>G single nucleotide variant Dilated cardiomyopathy 1O [RCV000691529] Chr12:21852362 [GRCh38]
Chr12:22005296 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4129A>G (p.Ile1377Val) single nucleotide variant Dilated cardiomyopathy 1O [RCV000689738] Chr12:21812131 [GRCh38]
Chr12:21965065 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.5G>A (p.Ser2Asn) single nucleotide variant Dilated cardiomyopathy 1O [RCV000706525] Chr12:21936670 [GRCh38]
Chr12:22089604 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.884G>A (p.Arg295Gln) single nucleotide variant Dilated cardiomyopathy 1O [RCV000689633] Chr12:21912999 [GRCh38]
Chr12:22065933 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2222T>C (p.Phe741Ser) single nucleotide variant Dilated cardiomyopathy 1O [RCV000705287] Chr12:21864454 [GRCh38]
Chr12:22017388 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.4205C>G (p.Ser1402Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV000706003] Chr12:21812055 [GRCh38]
Chr12:21964989 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1899_1901dup (p.His634_Thr635insGln) duplication Dilated cardiomyopathy 1O [RCV000806463] Chr12:21887835..21887836 [GRCh38]
Chr12:22040769..22040770 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.293A>G (p.Glu98Gly) single nucleotide variant Dilated cardiomyopathy 1O [RCV000806131] Chr12:21926055 [GRCh38]
Chr12:22078989 [GRCh37]
Chr12:12p12.1
uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33
pathogenic
GRCh37/hg19 12p13.33-11.21(chr12:191619-31733044)x3 copy number gain not provided [RCV000750245] Chr12:191619..31733044 [GRCh37]
Chr12:12p13.33-11.21
pathogenic
NM_005691.3(ABCC9):c.407-9T>C single nucleotide variant not provided [RCV000939801] Chr12:21917112 [GRCh38]
Chr12:22070046 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.4512+733C>G single nucleotide variant not provided [RCV000761819] Chr12:21805265 [GRCh38]
Chr12:21958199 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3096+3A>G single nucleotide variant Dilated cardiomyopathy 1O [RCV001065415] Chr12:21845600 [GRCh38]
Chr12:21998534 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3366G>A (p.Leu1122=) single nucleotide variant not provided [RCV000994868] Chr12:21842421 [GRCh38]
Chr12:21995355 [GRCh37]
Chr12:12p12.1
likely benign
NC_000012.12:g.(?_21805164)_(21936684_?)dup duplication Dilated cardiomyopathy 1O [RCV001031420] Chr12:21958098..22089618 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2763A>G (p.Leu921=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000876459] Chr12:21852103 [GRCh38]
Chr12:22005037 [GRCh37]
Chr12:12p12.1
benign
NM_020297.3(ABCC9):c.4512+745_4512+746del deletion not provided [RCV000883221] Chr12:21805252..21805253 [GRCh38]
Chr12:21958186..21958187 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1770G>A (p.Thr590=) single nucleotide variant not provided [RCV000868388] Chr12:21894064 [GRCh38]
Chr12:22046998 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1012-10_1012-9insTTTTT insertion not provided [RCV000949975] Chr12:21910987..21910988 [GRCh38]
Chr12:22063921..22063922 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1704T>C (p.Pro568=) single nucleotide variant not provided [RCV000882517] Chr12:21894130 [GRCh38]
Chr12:22047064 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1803-10dup duplication not provided [RCV000869849] Chr12:21887938..21887939 [GRCh38]
Chr12:22040872..22040873 [GRCh37]
Chr12:12p12.1
benign
NM_005691.3(ABCC9):c.306C>T (p.Leu102=) single nucleotide variant not provided [RCV000923380] Chr12:21926042 [GRCh38]
Chr12:22078976 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1251C>T (p.Val417=) single nucleotide variant not provided [RCV000926979] Chr12:21910226 [GRCh38]
Chr12:22063160 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4513-8C>T single nucleotide variant Dilated cardiomyopathy 1O [RCV000981482] Chr12:21805319 [GRCh38]
Chr12:21958253 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.957T>C (p.Ser319=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000870781]|not specified [RCV001193520] Chr12:21912926 [GRCh38]
Chr12:22065860 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3948T>C (p.Asp1316=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000972044] Chr12:21815838 [GRCh38]
Chr12:21968772 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.66T>C (p.Asn22=) single nucleotide variant not provided [RCV000879442] Chr12:21936609 [GRCh38]
Chr12:22089543 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.927A>G (p.Leu309=) single nucleotide variant not provided [RCV000867896] Chr12:21912956 [GRCh38]
Chr12:22065890 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.817-6C>T single nucleotide variant Dilated cardiomyopathy 1O [RCV000945668] Chr12:21913072 [GRCh38]
Chr12:22066006 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1660-9dup duplication Dilated cardiomyopathy 1O [RCV000983639] Chr12:21894180..21894181 [GRCh38]
Chr12:22047114..22047115 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3390T>C (p.Tyr1130=) single nucleotide variant not provided [RCV000898784] Chr12:21842397 [GRCh38]
Chr12:21995331 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.4537G>A (p.Ala1513Thr) single nucleotide variant Dilated cardiomyopathy 1O [RCV001061813] Chr12:21805287 [GRCh38]
Chr12:21958221 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1329G>A (p.Met443Ile) single nucleotide variant Dilated cardiomyopathy 1O [RCV001049699] Chr12:21908203 [GRCh38]
Chr12:22061137 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.812A>G (p.Gln271Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV001047991] Chr12:21915672 [GRCh38]
Chr12:22068606 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1676C>T (p.Ala559Val) single nucleotide variant Dilated cardiomyopathy 1O [RCV001056741] Chr12:21894158 [GRCh38]
Chr12:22047092 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3914A>G (p.His1305Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV001059127] Chr12:21815872 [GRCh38]
Chr12:21968806 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3933G>T (p.Glu1311Asp) single nucleotide variant Dilated cardiomyopathy 1O [RCV001059656] Chr12:21815853 [GRCh38]
Chr12:21968787 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2863G>A (p.Glu955Lys) single nucleotide variant Dilated cardiomyopathy 1O [RCV001036033]|Hypertrichotic osteochondrodysplasia Cantu type [RCV001112341] Chr12:21848153 [GRCh38]
Chr12:22001087 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.3479T>G (p.Leu1160Arg) single nucleotide variant Dilated cardiomyopathy 1O [RCV001040012] Chr12:21838165 [GRCh38]
Chr12:21991099 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2950C>T (p.Arg984Cys) single nucleotide variant Dilated cardiomyopathy 1O [RCV001054524] Chr12:21845749 [GRCh38]
Chr12:21998683 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2799G>A (p.Glu933=) single nucleotide variant Cardiomyopathy [RCV000770398] Chr12:21848217 [GRCh38]
Chr12:22001151 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1521G>A (p.Leu507=) single nucleotide variant Cardiomyopathy [RCV000770408] Chr12:21906223 [GRCh38]
Chr12:22059157 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.1858C>T (p.Arg620Ter) single nucleotide variant Cardiomyopathy [RCV000779676]|Dilated cardiomyopathy 1O [RCV001237891] Chr12:21887879 [GRCh38]
Chr12:22040813 [GRCh37]
Chr12:12p12.1
likely pathogenic|uncertain significance
NM_005691.3(ABCC9):c.2914A>T (p.Arg972Trp) single nucleotide variant not specified [RCV000779677] Chr12:21845785 [GRCh38]
Chr12:21998719 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2797G>A (p.Glu933Lys) single nucleotide variant Cardiomyopathy [RCV000770399] Chr12:21848219 [GRCh38]
Chr12:22001153 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.1456-3T>C single nucleotide variant Cardiomyopathy [RCV000770409] Chr12:21906291 [GRCh38]
Chr12:22059225 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.2583T>A (p.Asp861Glu) single nucleotide variant Cardiomyopathy [RCV000770400] Chr12:21852428 [GRCh38]
Chr12:22005362 [GRCh37]
Chr12:12p12.1
uncertain significance
NM_005691.3(ABCC9):c.99T>G (p.Pro33=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000983518] Chr12:21936576 [GRCh38]
Chr12:22089510 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.3753T>A (p.Gly1251=) single nucleotide variant not provided [RCV000929419] Chr12:21818168 [GRCh38]
Chr12:21971102 [GRCh37]
Chr12:12p12.1
likely benign
NM_020297.3(ABCC9):c.3007T>C (p.Leu1003=) single nucleotide variant Cardiomyopathy [RCV001170961]|not provided [RCV000939273] Chr12:21845692 [GRCh38]
Chr12:21998626 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2613C>T (p.His871=) single nucleotide variant Dilated cardiomyopathy 1O [RCV000863154] Chr12:21852398 [GRCh38]
Chr12:22005332 [GRCh37]
Chr12:12p12.1
likely benign
NM_005691.3(ABCC9):c.2198+7A>G sin