ACVRL1 (activin A receptor like type 1) - Rat Genome Database

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Gene: ACVRL1 (activin A receptor like type 1) Homo sapiens
Analyze
Symbol: ACVRL1
Name: activin A receptor like type 1
RGD ID: 737253
HGNC Page HGNC:175
Description: Enables several functions, including ATP binding activity; activin binding activity; and transmembrane receptor protein serine/threonine kinase activity. Involved in several processes, including positive regulation of transmembrane receptor protein serine/threonine kinase signaling pathway; regulation of cell junction assembly; and transforming growth factor beta receptor superfamily signaling pathway. Located in cell surface and plasma membrane. Implicated in hereditary hemorrhagic telangiectasia and pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activin A receptor type II-like 1; activin A receptor type IL; activin A receptor, type II-like kinase 1; activin receptor-like kinase 1; ACVRLK1; ALK-1; ALK1; HHT; HHT2; ORW2; serine/threonine-protein kinase receptor R3; SKR3; TGF-B superfamily receptor type I; TSR-I
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
GRCh381251,906,944 - 51,923,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1251,906,908 - 51,923,361 (+)EnsemblGRCh38hg38GRCh38
GRCh371252,301,288 - 52,317,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,587,469 - 50,603,412 (+)NCBINCBI36Build 36hg18NCBI36
Build 341250,587,468 - 50,601,120NCBI
Celera1251,103,338 - 51,119,286 (+)NCBICelera
Cytogenetic Map12q13.13ENTREZGENE
HuRef1249,334,280 - 49,350,228 (+)NCBIHuRef
CHM1_11252,267,590 - 52,283,516 (+)NCBICHM1_1
T2T-CHM13v2.01251,870,516 - 51,886,934 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R,R,R)-alpha-tocopherol  (ISO)
1,2-dimethylhydrazine  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (EXP)
2,2-(2-Chlorophenyl-4'-chlorophenyl)-1,1-dichloroethene  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
acetamide  (ISO)
Aflatoxin B2 alpha  (EXP)
aldrin  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
Benzo[k]fluoranthene  (ISO)
beta-naphthoflavone  (EXP,ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
DDD  (EXP)
DDE  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
dieldrin  (EXP)
dioxygen  (EXP)
enalapril  (ISO)
endosulfan  (ISO)
entinostat  (EXP)
furan  (ISO)
hydroquinone O-beta-D-glucopyranoside  (EXP)
indometacin  (EXP)
kojic acid  (EXP)
lead diacetate  (ISO)
levetiracetam  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nitrofen  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
propanal  (EXP)
raloxifene  (EXP)
silicon dioxide  (EXP,ISO)
tamibarotene  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activin receptor signaling pathway  (IEA)
angiogenesis  (IBA,IEA,IMP,ISO)
artery development  (IEA,ISS)
blood circulation  (IMP)
blood vessel endothelial cell proliferation involved in sprouting angiogenesis  (TAS)
blood vessel maturation  (TAS)
blood vessel morphogenesis  (IEA,ISO)
blood vessel remodeling  (IEA,ISS)
BMP signaling pathway  (IBA,IDA,IEA,IGI,IMP,ISO,TAS)
cell surface receptor protein serine/threonine kinase signaling pathway  (IEA)
cellular response to BMP stimulus  (IMP)
cellular response to growth factor stimulus  (IBA)
cellular response to transforming growth factor beta stimulus  (IDA,IEA)
dorsal aorta morphogenesis  (IEA,ISS)
dorsal/ventral pattern formation  (IBA)
endocardial cushion morphogenesis  (IEA,ISS)
endocardial cushion to mesenchymal transition  (ISS)
endothelial tube morphogenesis  (IMP)
heart development  (IBA,IEA)
in utero embryonic development  (IEA,ISO)
lymphangiogenesis  (IEA,ISS)
lymphatic endothelial cell differentiation  (IEA,IMP)
negative regulation of blood vessel endothelial cell migration  (IMP)
negative regulation of cell adhesion  (IMP)
negative regulation of cell growth  (IDA)
negative regulation of cell migration  (IMP)
negative regulation of cell population proliferation  (IMP)
negative regulation of endothelial cell differentiation  (IEA)
negative regulation of endothelial cell migration  (IDA)
negative regulation of endothelial cell proliferation  (IEA)
negative regulation of focal adhesion assembly  (IMP)
negative regulation of gene expression  (IEA,ISS)
obsolete regulation of nitrogen compound metabolic process  (IEA)
positive regulation of angiogenesis  (IEA,ISO)
positive regulation of bicellular tight junction assembly  (IGI)
positive regulation of BMP signaling pathway  (IDA,IEA)
positive regulation of chondrocyte differentiation  (TAS)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of endothelial cell differentiation  (IEA)
positive regulation of endothelial cell proliferation  (IEA)
positive regulation of epithelial cell differentiation  (IGI)
positive regulation of metabolic process  (IEA)
positive regulation of Notch signaling pathway  (IGI)
positive regulation of SMAD protein signal transduction  (IMP)
positive regulation of transcription by RNA polymerase II  (IDA,IEA,ISS)
regulation of blood pressure  (IMP)
regulation of blood vessel endothelial cell migration  (TAS)
regulation of DNA replication  (TAS)
regulation of DNA-templated transcription  (IMP)
regulation of endothelial cell proliferation  (TAS)
regulation of multicellular organismal process  (IEA)
response to hypoxia  (IEA,ISO)
retina vasculature development in camera-type eye  (IEA,ISS)
signal transduction  (IDA)
transforming growth factor beta receptor signaling pathway  (IBA,IDA,IEA,ISO)
transforming growth factor beta receptor superfamily signaling pathway  (IEA)
venous blood vessel development  (IEA,ISS)
wound healing, spreading of epidermal cells  (IMP)

Cellular Component
BMP receptor complex  (IBA,IEA)
cell surface  (IDA,IEA,ISO)
dendrite  (IEA,ISO)
membrane  (IEA)
neuronal cell body  (IEA,ISO)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal bleeding  (IAGP)
Abnormal cardiovascular system physiology  (IAGP)
Abnormal cerebral vascular morphology  (IAGP)
Abnormality of the pulmonary vasculature  (IAGP)
Amblyopia  (IAGP)
Anemia  (IAGP)
Arteriovenous malformation  (IAGP)
Autosomal dominant inheritance  (IAGP)
Brain abscess  (IAGP)
Cavernous hemangioma  (IAGP)
Cerebral arteriovenous malformation  (IAGP)
Cerebral hemorrhage  (IAGP)
Cholecystitis  (IAGP)
Cholelithiasis  (IAGP)
Choriocapillaris atrophy  (IAGP)
Cirrhosis  (IAGP)
Clubbing  (IAGP)
Congestive heart failure  (IAGP)
Conjunctival telangiectasia  (IAGP)
Cyanosis  (IAGP)
Dyspnea  (IAGP)
Epistaxis  (IAGP)
Esophageal varix  (IAGP)
Facial telangiectasia  (IAGP)
Fingerpad telangiectases  (IAGP)
Gastrointestinal angiodysplasia  (IAGP)
Gastrointestinal arteriovenous malformation  (IAGP)
Gastrointestinal hemorrhage  (IAGP)
Gastrointestinal telangiectasia  (IAGP)
Hematemesis  (IAGP)
Hematochezia  (IAGP)
Hematuria  (IAGP)
Hemoptysis  (IAGP)
Hepatic arteriovenous malformation  (IAGP)
Hepatic failure  (IAGP)
Hypertension  (IAGP)
Intestinal polyposis  (IAGP)
Ischemic stroke  (IAGP)
Lip telangiectasia  (IAGP)
Melena  (IAGP)
Migraine  (IAGP)
Mucosal telangiectasiae  (IAGP)
Nail bed telangiectasia  (IAGP)
Nasal mucosa telangiectasia  (IAGP)
Nephrolithiasis  (IAGP)
Oral cavity telangiectasia  (IAGP)
Palate telangiectasia  (IAGP)
Palmar telangiectasia  (IAGP)
Peripheral arteriovenous fistula  (IAGP)
Polycythemia  (IAGP)
Portal hypertension  (IAGP)
Pulmonary arterial hypertension  (IAGP)
Pulmonary arteriovenous malformation  (IAGP)
Pulmonary embolism  (IAGP)
Retinal telangiectasia  (IAGP)
Right-to-left shunt  (IAGP)
Seizure  (IAGP)
Spinal arteriovenous malformation  (IAGP)
Spontaneous hematomas  (IAGP)
Spontaneous, recurrent epistaxis  (IAGP)
Subarachnoid hemorrhage  (IAGP)
Telangiectasia  (IAGP)
Telangiectasia of the skin  (IAGP)
Thrombocytopenia  (IAGP)
Tongue telangiectasia  (IAGP)
Transient ischemic attack  (IAGP)
Venous thrombosis  (IAGP)
Visceral angiomatosis  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Three novel mutations in the activin receptor-like kinase 1 (ALK-1) gene in hereditary hemorrhagic telangiectasia type 2 in Brazilian patients. Assis AM, etal., J Hum Genet. 2007;52(3):237-43. Epub 2007 Jan 12.
2. Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype. Bossler AD, etal., Hum Mutat. 2006 Jul;27(7):667-75.
3. Ovarian follicle populations of the rat express TGF-beta signalling pathways. Drummond AE, etal., Mol Cell Endocrinol. 2003 Apr 28;202(1-2):53-7.
4. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Girerd B, etal., Am J Respir Crit Care Med. 2010 Apr 15;181(8):851-61. Epub 2010 Jan 7.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia. Harrison RE, etal., J Med Genet. 2003 Dec;40(12):865-71.
7. TGF-{beta}1 activates two distinct type I receptors in neurons: implications for neuronal NF-{kappa}B signaling. Konig HG, etal., J Cell Biol. 2005 Mar 28;168(7):1077-86. Epub 2005 Mar 21.
8. Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Lesca G, etal., Hum Mutat 2004 Apr;23(4):289-99.
9. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Levy GG, etal., Nature. 2001 Oct 4;413(6855):488-94.
10. Adenosine protected against pulmonary edema through transporter- and receptor A2-mediated endothelial barrier enhancement. Lu Q, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Jun;298(6):L755-67. Epub 2010 Mar 12.
11. [Mutations of ACVRL1 gene in a pedigree with hereditary hemorrhagic telangiectasia]. Luo JW, etal., Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2008 Jun;25(3):308-10.
12. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
13. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
14. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
16. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2. Srinivasan S, etal., Hum Mol Genet. 2003 Mar 1;12(5):473-82.
18. Arteriovenous malformations in mice lacking activin receptor-like kinase-1. Urness LD, etal., Nat Genet 2000 Nov;26(3):328-31.
19. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
20. The TGF-{beta}/Smad2,3 signalling axis is impaired in experimental pulmonary hypertension. Zakrzewicz A, etal., Eur Respir J. 2007 Mar 28;.
Additional References at PubMed
PMID:8242742   PMID:8397373   PMID:8640225   PMID:8717052   PMID:8928814   PMID:9245985   PMID:9651680   PMID:10187774   PMID:10694922   PMID:10716993   PMID:10767348   PMID:11170071  
PMID:11266516   PMID:11278302   PMID:11279102   PMID:11356828   PMID:11484689   PMID:12065756   PMID:12114496   PMID:12393874   PMID:12453878   PMID:12477932   PMID:12920067   PMID:14580334  
PMID:14702039   PMID:15489334   PMID:15517393   PMID:15611116   PMID:15687131   PMID:15702480   PMID:15712270   PMID:15712271   PMID:15880681   PMID:15951295   PMID:16049014   PMID:16179574  
PMID:16429404   PMID:16470589   PMID:16525724   PMID:16540754   PMID:16542389   PMID:16705692   PMID:16776339   PMID:16785228   PMID:16861286   PMID:16941203   PMID:17068149   PMID:17224686  
PMID:17311849   PMID:17388964   PMID:17620321   PMID:17786384   PMID:18029348   PMID:18065769   PMID:18159113   PMID:18187665   PMID:18285823   PMID:18309101   PMID:18312453   PMID:18333754  
PMID:18498373   PMID:18607909   PMID:18673552   PMID:18829861   PMID:18855162   PMID:18949376   PMID:18972447   PMID:18974388   PMID:19051722   PMID:19270816   PMID:19357124   PMID:19366699  
PMID:19490893   PMID:19494318   PMID:19506300   PMID:19508727   PMID:19592636   PMID:19758997   PMID:19903896   PMID:19913121   PMID:20065063   PMID:20124460   PMID:20301525   PMID:20301658  
PMID:20346360   PMID:20406889   PMID:20414677   PMID:20424473   PMID:20501893   PMID:20587022   PMID:20628086   PMID:20734064   PMID:21158752   PMID:21212415   PMID:21465483   PMID:21546842  
PMID:21791611   PMID:21873635   PMID:21967607   PMID:22013081   PMID:22028876   PMID:22087763   PMID:22233626   PMID:22277251   PMID:22391627   PMID:22493445   PMID:22632830   PMID:22677372  
PMID:22718755   PMID:22799562   PMID:23048070   PMID:23124896   PMID:23263486   PMID:23447486   PMID:23460919   PMID:23707512   PMID:23868260   PMID:23919827   PMID:24189493   PMID:24305026  
PMID:24319055   PMID:24323303   PMID:24936649   PMID:25237187   PMID:25279424   PMID:25466244   PMID:25799559   PMID:25847705   PMID:25915158   PMID:25970827   PMID:26176610   PMID:26186194  
PMID:26655846   PMID:26662187   PMID:26677222   PMID:26720610   PMID:26821948   PMID:26897508   PMID:27196063   PMID:27248821   PMID:27316748   PMID:27381467   PMID:27528761   PMID:27528762  
PMID:27869117   PMID:28290170   PMID:28319085   PMID:28412737   PMID:28514442   PMID:28564608   PMID:28582316   PMID:28820968   PMID:28927913   PMID:29048420   PMID:29350394   PMID:29449337  
PMID:29636300   PMID:30132150   PMID:30244195   PMID:30251589   PMID:30262563   PMID:30389587   PMID:30617053   PMID:30685840   PMID:31327192   PMID:31630786   PMID:31910860   PMID:32082362  
PMID:32170914   PMID:32281291   PMID:32300199   PMID:32523017   PMID:32561494   PMID:32962750   PMID:33054561   PMID:33157202   PMID:33201366   PMID:33566682   PMID:33768677   PMID:33919892  
PMID:33961781   PMID:34157307   PMID:34702814   PMID:35620871   PMID:37743483   PMID:37787089  


Genomics

Comparative Map Data
ACVRL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381251,906,944 - 51,923,361 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1251,906,908 - 51,923,361 (+)EnsemblGRCh38hg38GRCh38
GRCh371252,301,288 - 52,317,145 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361250,587,469 - 50,603,412 (+)NCBINCBI36Build 36hg18NCBI36
Build 341250,587,468 - 50,601,120NCBI
Celera1251,103,338 - 51,119,286 (+)NCBICelera
Cytogenetic Map12q13.13ENTREZGENE
HuRef1249,334,280 - 49,350,228 (+)NCBIHuRef
CHM1_11252,267,590 - 52,283,516 (+)NCBICHM1_1
T2T-CHM13v2.01251,870,516 - 51,886,934 (+)NCBIT2T-CHM13v2.0
Acvrl1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3915101,026,403 - 101,043,217 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl15101,026,403 - 101,043,217 (+)EnsemblGRCm39 Ensembl
GRCm3815101,128,522 - 101,145,336 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl15101,128,522 - 101,145,336 (+)EnsemblGRCm38mm10GRCm38
MGSCv3715100,958,968 - 100,975,767 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3615100,956,556 - 100,986,456 (+)NCBIMGSCv36mm8
Celera15103,276,934 - 103,293,737 (+)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1556.41NCBI
Acvrl1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87134,117,917 - 134,135,306 (+)NCBIGRCr8
mRatBN7.27132,239,200 - 132,256,592 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7132,239,729 - 132,256,591 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7134,047,098 - 134,058,156 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07136,276,614 - 136,287,668 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07136,187,385 - 136,198,468 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07142,769,942 - 142,787,336 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7142,776,252 - 142,787,335 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07140,571,236 - 140,588,083 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47139,873,596 - 139,884,675 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17139,944,251 - 139,961,111 (+)NCBI
Celera7128,712,554 - 128,723,633 (+)NCBICelera
Cytogenetic Map7q36NCBI
Acvrl1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555472,279,042 - 2,294,443 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555472,278,548 - 2,293,865 (+)NCBIChiLan1.0ChiLan1.0
ACVRL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21042,272,321 - 42,288,400 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11242,269,084 - 42,282,021 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01236,839,869 - 36,856,351 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11237,615,888 - 37,631,691 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1237,615,888 - 37,631,691 (-)Ensemblpanpan1.1panPan2
ACVRL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1273,075,373 - 3,090,549 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl273,076,124 - 3,092,469 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2743,166,746 - 43,181,176 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0273,072,148 - 3,086,549 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl273,072,149 - 3,081,623 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1273,088,717 - 3,103,128 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0273,075,021 - 3,089,444 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02743,565,141 - 43,579,587 (+)NCBIUU_Cfam_GSD_1.0
Acvrl1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494563,786,735 - 63,800,651 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365129,364,149 - 9,379,431 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365129,364,551 - 9,379,131 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ACVRL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl517,268,130 - 17,286,276 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1517,267,483 - 17,284,155 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2517,850,783 - 17,871,395 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ACVRL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11148,063,099 - 48,091,705 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1148,082,135 - 48,093,630 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037197,998,886 - 198,027,294 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Acvrl1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624816404,358 - 426,217 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624816402,412 - 426,217 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ACVRL1
782 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000020.3(ACVRL1):c.62-196C>G single nucleotide variant not provided [RCV001608873] Chr12:51912903 [GRCh38]
Chr12:52306687 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.773-7_773-6delinsTC indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV000525583] Chr12:51915218..51915219 [GRCh38]
Chr12:52309002..52309003 [GRCh37]
Chr12:12q13.13
likely benign|uncertain significance
NM_000020.3(ACVRL1):c.470T>C (p.Leu157Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000551286] Chr12:51913715 [GRCh38]
Chr12:52307499 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.969A>C (p.Lys323Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000555026] Chr12:51915421 [GRCh38]
Chr12:52309205 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.145G>C (p.Ala49Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000144433] Chr12:51913182 [GRCh38]
Chr12:52306966 [GRCh37]
Chr12:12q13.13
not provided
NM_000020.3(ACVRL1):c.143G>A (p.Gly48Glu) single nucleotide variant Cardiovascular phenotype [RCV002390302]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000144434] Chr12:51913180 [GRCh38]
Chr12:52306964 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|not provided
NM_000020.3(ACVRL1):c.780C>T (p.Ile260=) single nucleotide variant Cardiovascular phenotype [RCV003380655]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640450] Chr12:51915232 [GRCh38]
Chr12:52309016 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.313+1G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000546943] Chr12:51913351 [GRCh38]
Chr12:52307135 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1412G>A (p.Cys471Tyr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000543952] Chr12:51920793 [GRCh38]
Chr12:52314577 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln) single nucleotide variant Cardiovascular phenotype [RCV002371767]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008727]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008726]|not provided [RCV000522363] Chr12:51916219 [GRCh38]
Chr12:52310003 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1127T>G (p.Met376Arg) single nucleotide variant Cardiovascular phenotype [RCV002444423]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008728] Chr12:51916114 [GRCh38]
Chr12:52309898 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.2(ACVRL1):c.695_697delCCT (p.Ser233del) deletion Hereditary hemorrhagic telangiectasia type 2 [RCV000008729] Chr12:51914508..51914510 [GRCh38]
Chr12:52308292..52308294 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.150G>T (p.Trp50Cys) single nucleotide variant Cardiovascular phenotype [RCV002390097]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008730]|not provided [RCV001557555] Chr12:51913187 [GRCh38]
Chr12:52306971 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.143_147delinsAGCCT (p.Gly48_Ala49delinsGluPro) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008731] Chr12:51913180..51913184 [GRCh38]
Chr12:52306964..52306968 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1193T>A (p.Ile398Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008732] Chr12:51916180 [GRCh38]
Chr12:52309964 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp) single nucleotide variant ACVRL1-related condition [RCV003390659]|Cardiovascular phenotype [RCV002433448]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008734]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008733]|not provided [RCV000330901] Chr12:51916107 [GRCh38]
Chr12:52309891 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.760_762del (p.Asp254del) deletion Cardiovascular phenotype [RCV002390098]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008736]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008735]|not provided [RCV000755791] Chr12:51914571..51914573 [GRCh38]
Chr12:52308355..52308357 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp) single nucleotide variant Cardiovascular phenotype [RCV002362571]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008738]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008737]|not provided [RCV000199381] Chr12:51916218 [GRCh38]
Chr12:52310002 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp) single nucleotide variant Cardiovascular phenotype [RCV002390099]|Pulmonary arterial hypertension [RCV001003756]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008740]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008739]|not provided [RCV001564363]|not specified [RCV000507762] Chr12:51920831 [GRCh38]
Chr12:52314615 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008741]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001392] Chr12:51914445 [GRCh38]
Chr12:52308229 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr) single nucleotide variant Cardiovascular phenotype [RCV002381244]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008743]|See cases [RCV001844010]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008742]|not provided [RCV001507809] Chr12:51915483 [GRCh38]
Chr12:52309267 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser) single nucleotide variant Cardiovascular phenotype [RCV002345234]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000008744] Chr12:51916183 [GRCh38]
Chr12:52309967 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1113_1114insG (p.Thr372fs) insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008745] Chr12:51916100..51916101 [GRCh38]
Chr12:52309884..52309885 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1232G>C (p.Arg411Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000008746] Chr12:51916219 [GRCh38]
Chr12:52310003 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.2(ACVRL1):c.374C>T (p.Pro125Leu) single nucleotide variant Malignant melanoma [RCV000070035] Chr12:51913619 [GRCh38]
Chr12:52307403 [GRCh37]
Chr12:50593670 [NCBI36]
Chr12:12q13.13
not provided
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=) single nucleotide variant Cardiovascular phenotype [RCV002371905]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001520194] Chr12:51916148 [GRCh38]
Chr12:52309932 [GRCh37]
Chr12:50596199 [NCBI36]
Chr12:12q13.13
benign|likely benign|not provided
NM_000020.3(ACVRL1):c.578T>C (p.Leu193Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000660863]|not provided [RCV001771919] Chr12:51914026 [GRCh38]
Chr12:52307810 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.-5-33C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000999793]|not specified [RCV000123529] Chr12:51912437 [GRCh38]
Chr12:52306221 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.313+11C>T single nucleotide variant Cardiovascular phenotype [RCV002321608]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000612903]|not specified [RCV000150155] Chr12:51913361 [GRCh38]
Chr12:52307145 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1378-339T>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285809]|not provided [RCV001673044] Chr12:51920420 [GRCh38]
Chr12:52314204 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1377+326G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001866]|not provided [RCV001673004] Chr12:51919441 [GRCh38]
Chr12:52313225 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) single nucleotide variant ACVRL1-related condition [RCV003917460]|Abnormal bleeding [RCV001270508]|Cardiovascular phenotype [RCV002390307]|Haemorrhagic telangiectasia 2 [RCV000148353]|Pulmonary arterial hypertension [RCV002285146]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000470977]|not provided [RCV000766346]|not specified [RCV000196441] Chr12:51920826 [GRCh38]
Chr12:52314610 [GRCh37]
Chr12:12q13.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) single nucleotide variant Cardiovascular phenotype [RCV002371986]|Haemorrhagic telangiectasia 2 [RCV000148355]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000988853] Chr12:51913125 [GRCh38]
Chr12:52306909 [GRCh37]
Chr12:12q13.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.1157G>A (p.Arg386His) single nucleotide variant Haemorrhagic telangiectasia 2 [RCV000148356]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002514855] Chr12:51916144 [GRCh38]
Chr12:52309928 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.890A>G (p.His297Arg) single nucleotide variant Cardiovascular phenotype [RCV002371987]|Haemorrhagic telangiectasia 2 [RCV000148357]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001246199]|not provided [RCV003227674]|not specified [RCV000455714] Chr12:51915342 [GRCh38]
Chr12:52309126 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.625+110_625+121del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000251] Chr12:51914183..51914194 [GRCh38]
Chr12:52307967..52307978 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.653G>A (p.Arg218Gln) single nucleotide variant Abnormal bleeding [RCV001270531] Chr12:51914466 [GRCh38]
Chr12:52308250 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1377+249_1377+250insTGTGTG insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000971] Chr12:51919364..51919365 [GRCh38]
Chr12:52313148..52313149 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1378-216C>T single nucleotide variant ACVRL1-related condition [RCV003973021]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001705]|not provided [RCV001574856] Chr12:51920543 [GRCh38]
Chr12:52314327 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.673_674del (p.Ser225fs) microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV001287688] Chr12:51914483..51914484 [GRCh38]
Chr12:52308267..52308268 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1378-155T>G single nucleotide variant Cardiovascular phenotype [RCV002382237]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000127]|not provided [RCV001672997] Chr12:51920604 [GRCh38]
Chr12:52314388 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.-5-227C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000283]|not provided [RCV001655660] Chr12:51912243 [GRCh38]
Chr12:52306027 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1378-405A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000285]|not provided [RCV001615103] Chr12:51920354 [GRCh38]
Chr12:52314138 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.773-3C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000915] Chr12:51915222 [GRCh38]
Chr12:52309006 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1378-711C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001228] Chr12:51920048 [GRCh38]
Chr12:52313832 [GRCh37]
Chr12:12q13.13
benign
NC_000012.12:g.51907469G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002338] Chr12:51907469 [GRCh38]
Chr12:52301253 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.62-69G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001390]|not provided [RCV001565436] Chr12:51913030 [GRCh38]
Chr12:52306814 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.314-65G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001391]|not provided [RCV001707861] Chr12:51913494 [GRCh38]
Chr12:52307278 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) single nucleotide variant Cardiovascular phenotype [RCV002320216]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001393] Chr12:51916119 [GRCh38]
Chr12:52309903 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1378-217A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001598]|not provided [RCV001709703] Chr12:51920542 [GRCh38]
Chr12:52314326 [GRCh37]
Chr12:12q13.13
benign
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 12q13.12-13.13(chr12:50633888-52851909)x1 copy number loss See cases [RCV000140716] Chr12:50633888..52851909 [GRCh38]
Chr12:51027671..53245693 [GRCh37]
Chr12:49313938..51531960 [NCBI36]
Chr12:12q13.12-13.13
pathogenic
GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 copy number loss See cases [RCV000142033] Chr12:50122359..53248460 [GRCh38]
Chr12:50516142..53642244 [GRCh37]
Chr12:48802409..51928511 [NCBI36]
Chr12:12q13.12-13.13
pathogenic
NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001078539]|not provided [RCV000178021] Chr12:51913729 [GRCh38]
Chr12:52307513 [GRCh37]
Chr12:12q13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) single nucleotide variant Cardiovascular phenotype [RCV002415829]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000534448]|not provided [RCV000200439] Chr12:51913237 [GRCh38]
Chr12:52307021 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) single nucleotide variant Cardiovascular phenotype [RCV002372167]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001238032]|not provided [RCV000200622] Chr12:51915372 [GRCh38]
Chr12:52309156 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) deletion ACVRL1-related condition [RCV003417704]|Cardiovascular phenotype [RCV002321780]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000694342]|not provided [RCV000196965] Chr12:51913649..51913652 [GRCh38]
Chr12:52307433..52307436 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.430C>T (p.Arg144Ter) single nucleotide variant Cardiovascular phenotype [RCV002327029]|Pulmonary hypertension, primary, 1 [RCV000488769]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000472148]|not provided [RCV000755781] Chr12:51913675 [GRCh38]
Chr12:52307459 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.986G>A (p.Arg329His) single nucleotide variant Cardiovascular phenotype [RCV002381660]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000531199]|not provided [RCV000197384] Chr12:51915438 [GRCh38]
Chr12:52309222 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1377+1G>A single nucleotide variant Cardiovascular phenotype [RCV002381659]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000689218]|not provided [RCV000197808] Chr12:51919116 [GRCh38]
Chr12:52312900 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) single nucleotide variant Cardiovascular phenotype [RCV002321779]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000457910]|not specified [RCV000197995] Chr12:51913575 [GRCh38]
Chr12:52307359 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|benign|likely benign
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) single nucleotide variant Cardiovascular phenotype [RCV002381661]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000762899]|not provided [RCV000198205] Chr12:51915450 [GRCh38]
Chr12:52309234 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) single nucleotide variant Cardiovascular phenotype [RCV002363002]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001340965]|not provided [RCV000198425] Chr12:51914495 [GRCh38]
Chr12:52308279 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln) single nucleotide variant Cardiovascular phenotype [RCV002390510]|Pulmonary arterial hypertension [RCV000414952]|Pulmonary arterial hypertension [RCV001003757]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488871]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000502469]|not provided [RCV000198604]|not specified [RCV000506673] Chr12:51920832 [GRCh38]
Chr12:52314616 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.924C>A (p.Cys308Ter) single nucleotide variant Cardiovascular phenotype [RCV002377081]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000542741]|not provided [RCV000598771] Chr12:51915376 [GRCh38]
Chr12:52309160 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.145dup (p.Ala49fs) duplication ACVRL1-Related Disorders [RCV003235117]|ACVRL1-related condition [RCV003895254]|Cardiovascular phenotype [RCV002390511]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000459586]|not provided [RCV000195435] Chr12:51913176..51913177 [GRCh38]
Chr12:52306960..52306961 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) single nucleotide variant Cardiovascular phenotype [RCV002390509]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000463409]|not specified [RCV000195590] Chr12:51914560 [GRCh38]
Chr12:52308344 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.1031_1032dup (p.Cys345fs) microsatellite not provided [RCV000199151] Chr12:51915480..51915481 [GRCh38]
Chr12:52309264..52309265 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs) deletion Cardiovascular phenotype [RCV002433872]|not provided [RCV000195947] Chr12:51916108 [GRCh38]
Chr12:52309892 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.-46C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000197]|not specified [RCV000199540] Chr12:51907655 [GRCh38]
Chr12:52301439 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) single nucleotide variant Cardiovascular phenotype [RCV002388766]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001924863]|not provided [RCV003481162] Chr12:51920796 [GRCh38]
Chr12:52314580 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) single nucleotide variant Cardiovascular phenotype [RCV002426928]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262078]|not provided [RCV000196221] Chr12:51913306 [GRCh38]
Chr12:52307090 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) single nucleotide variant Cardiovascular phenotype [RCV002399717]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001857712]|not provided [RCV000200161] Chr12:51913189 [GRCh38]
Chr12:52306973 [GRCh37]
Chr12:12q13.13
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_000020.3(ACVRL1):c.626-59del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000205909] Chr12:51914375 [GRCh38]
Chr12:52308159 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.573del (p.Phe192fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000547521] Chr12:51914018 [GRCh38]
Chr12:52307802 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1378-216C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000754826] Chr12:51920543 [GRCh38]
Chr12:52314327 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002536556]|not provided [RCV000755784] Chr12:51914490 [GRCh38]
Chr12:52308274 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) single nucleotide variant Cardiovascular phenotype [RCV002370004]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040697]|not provided [RCV000755785] Chr12:51915357 [GRCh38]
Chr12:52309141 [GRCh37]
Chr12:12q13.13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.1048+1G>A single nucleotide variant Cardiovascular phenotype [RCV002405206]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509668]|not provided [RCV001507811] Chr12:51915501 [GRCh38]
Chr12:52309285 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002524996]|not provided [RCV000513950] Chr12:51914047 [GRCh38]
Chr12:52307831 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000226319] Chr12:51916215 [GRCh38]
Chr12:52309999 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) single nucleotide variant Cardiovascular phenotype [RCV002408944]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000231890] Chr12:51915274 [GRCh38]
Chr12:52309058 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) microsatellite Cardiovascular phenotype [RCV002372240]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000230219]|not provided [RCV001507805]|not specified [RCV000506933] Chr12:51914506..51914508 [GRCh38]
Chr12:52308290..52308292 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001058165]|not provided [RCV000755786] Chr12:51919059 [GRCh38]
Chr12:52312843 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002485962]|not provided [RCV000756965] Chr12:51916105 [GRCh38]
Chr12:52309889 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) single nucleotide variant Cardiovascular phenotype [RCV002458356]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002485963]|not provided [RCV000756966] Chr12:51916090 [GRCh38]
Chr12:52309874 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001855885]|not provided [RCV000756967] Chr12:51916102 [GRCh38]
Chr12:52309886 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.666C>T (p.His222=) single nucleotide variant Cardiovascular phenotype [RCV002360868]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001079089]|not provided [RCV000756969] Chr12:51914479 [GRCh38]
Chr12:52308263 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV003768272]|not provided [RCV000756970] Chr12:51913301 [GRCh38]
Chr12:52307085 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.-5-59C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002319] Chr12:51912411 [GRCh38]
Chr12:52306195 [GRCh37]
Chr12:12q13.13
uncertain significance
NC_000012.11:g.(?_52306239)_(52314697_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000525264] Chr12:52306239..52314697 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1246+2T>C single nucleotide variant Cardiovascular phenotype [RCV002395380]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000525999] Chr12:51916235 [GRCh38]
Chr12:52310019 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.625+1del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000528230] Chr12:51914072 [GRCh38]
Chr12:52307856 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) single nucleotide variant Cardiovascular phenotype [RCV002321922]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001083626]|not provided [RCV000756963]|not specified [RCV000254095] Chr12:51916118 [GRCh38]
Chr12:52309902 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.772+27G>C single nucleotide variant not specified [RCV000241980] Chr12:51914612 [GRCh38]
Chr12:52308396 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1246+19C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000474238]|not specified [RCV000244463] Chr12:51916252 [GRCh38]
Chr12:52310036 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1246+9C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000456288]|not specified [RCV000249414] Chr12:51916242 [GRCh38]
Chr12:52310026 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.1377+45T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000999733]|not provided [RCV000833921]|not specified [RCV000254416] Chr12:51919160 [GRCh38]
Chr12:52312944 [GRCh37]
Chr12:12q13.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.314-35A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000999924]|not provided [RCV001538910]|not specified [RCV000249741] Chr12:51913524 [GRCh38]
Chr12:52307308 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) single nucleotide variant Cardiovascular phenotype [RCV002365254]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000617]|not specified [RCV000245058] Chr12:51914455 [GRCh38]
Chr12:52308239 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000300092] Chr12:51914526 [GRCh38]
Chr12:52308310 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*560T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000283792] Chr12:51921453 [GRCh38]
Chr12:52315237 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.*1042C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000268898] Chr12:51921935 [GRCh38]
Chr12:52315719 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*2347A>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000397586] Chr12:51923240 [GRCh38]
Chr12:52317024 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2380C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000304582] Chr12:51923273 [GRCh38]
Chr12:52317057 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.-52G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000506378]|not provided [RCV003221906] Chr12:51907649 [GRCh38]
Chr12:52301433 [GRCh37]
Chr12:12q13.13
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.*499T>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000380394] Chr12:51921392 [GRCh38]
Chr12:52315176 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*242A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000381811] Chr12:51921135 [GRCh38]
Chr12:52314919 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1839C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000403356] Chr12:51922732 [GRCh38]
Chr12:52316516 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*862G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000405047] Chr12:51921755 [GRCh38]
Chr12:52315539 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1926T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000292660] Chr12:51922819 [GRCh38]
Chr12:52316603 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1021T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000312927] Chr12:51921914 [GRCh38]
Chr12:52315698 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*935G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000314037] Chr12:51921828 [GRCh38]
Chr12:52315612 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*58G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000507582]|not provided [RCV001566407] Chr12:51920951 [GRCh38]
Chr12:52314735 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*869C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000282305] Chr12:51921762 [GRCh38]
Chr12:52315546 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1776C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000279734] Chr12:51922669 [GRCh38]
Chr12:52316453 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1493G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000320372] Chr12:51922386 [GRCh38]
Chr12:52316170 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2422A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000264731] Chr12:51923315 [GRCh38]
Chr12:52317099 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1041G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000365887] Chr12:51921934 [GRCh38]
Chr12:52315718 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*423C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000323463] Chr12:51921316 [GRCh38]
Chr12:52315100 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) single nucleotide variant Cardiovascular phenotype [RCV002418162]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000608064]|not provided [RCV000756971] Chr12:51913244 [GRCh38]
Chr12:52307028 [GRCh37]
Chr12:12q13.13
benign|likely benign|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.*913C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000394581] Chr12:51921806 [GRCh38]
Chr12:52315590 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*200A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000272087] Chr12:51921093 [GRCh38]
Chr12:52314877 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*949C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000370963] Chr12:51921842 [GRCh38]
Chr12:52315626 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) single nucleotide variant Cardiovascular phenotype [RCV002338888]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640441] Chr12:51913763 [GRCh38]
Chr12:52307547 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1042C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000326234] Chr12:51921935 [GRCh38]
Chr12:52315719 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1689G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000371882] Chr12:51922582 [GRCh38]
Chr12:52316366 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2277A>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000397615]|not provided [RCV002262966] Chr12:51923170 [GRCh38]
Chr12:52316954 [GRCh37]
Chr12:12q13.13
benign|likely benign|uncertain significance
NM_000020.3(ACVRL1):c.*1777G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000351109] Chr12:51922670 [GRCh38]
Chr12:52316454 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*992A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000400950] Chr12:51921885 [GRCh38]
Chr12:52315669 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*120G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000329601] Chr12:51921013 [GRCh38]
Chr12:52314797 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1560A>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000377196] Chr12:51922453 [GRCh38]
Chr12:52316237 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*2281G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000310420]|not provided [RCV002292519] Chr12:51923174 [GRCh38]
Chr12:52316958 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000796579]|not provided [RCV000289108] Chr12:51914041 [GRCh38]
Chr12:52307825 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1246T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000359982] Chr12:51922139 [GRCh38]
Chr12:52315923 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.*1351G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000267578] Chr12:51922244 [GRCh38]
Chr12:52316028 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2398G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000361679] Chr12:51923291 [GRCh38]
Chr12:52317075 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.429C>T (p.Val143=) single nucleotide variant Cardiovascular phenotype [RCV003298371]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000339787] Chr12:51913674 [GRCh38]
Chr12:52307458 [GRCh37]
Chr12:12q13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.*2313G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000362816] Chr12:51923206 [GRCh38]
Chr12:52316990 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*1630C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000280477] Chr12:51922523 [GRCh38]
Chr12:52316307 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.2(ACVRL1):c.-202C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000389171] Chr12:51907499 [GRCh38]
Chr12:52301283 [GRCh37]
Chr12:12q13.13
likely benign|uncertain significance
NM_000020.3(ACVRL1):c.1042G>A (p.Asp348Asn) single nucleotide variant Cardiovascular phenotype [RCV003311082] Chr12:51915494 [GRCh38]
Chr12:52309278 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.295_299del (p.Val99fs) deletion not provided [RCV000489351] Chr12:51913331..51913335 [GRCh38]
Chr12:52307115..52307119 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV000548593] Chr12:51914524..51914526 [GRCh38]
Chr12:52308308..52308310 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1378-248del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000308]|not provided [RCV002245831] Chr12:51920506 [GRCh38]
Chr12:52314290 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.1378-115T>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000467] Chr12:51920644 [GRCh38]
Chr12:52314428 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) single nucleotide variant Cardiovascular phenotype [RCV002445157]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000664]|not provided [RCV002249610] Chr12:51915369 [GRCh38]
Chr12:52309153 [GRCh37]
Chr12:12q13.13
benign|uncertain significance
NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488470] Chr12:51916183 [GRCh38]
Chr12:52309967 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488472]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000527139] Chr12:51913984 [GRCh38]
Chr12:52307768 [GRCh37]
Chr12:12q13.13
pathogenic|likely benign
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) single nucleotide variant ACVRL1-related condition [RCV003900028]|Abnormality of the pulmonary vasculature [RCV002287412]|Cardiovascular phenotype [RCV002420248]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488479]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001050243]|not provided [RCV002244957] Chr12:51913236 [GRCh38]
Chr12:52307020 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1390del (p.Gly463_Leu464insTer) deletion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488490] Chr12:51920770 [GRCh38]
Chr12:52314554 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488495]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000814063]|not provided [RCV001755727] Chr12:51919062 [GRCh38]
Chr12:52312846 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) single nucleotide variant Cardiovascular phenotype [RCV002395185]|Pulmonary hypertension, primary, 1 [RCV000488513]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000546029]|not provided [RCV003480651] Chr12:51920817 [GRCh38]
Chr12:52314601 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488516]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001865506]|not provided [RCV001507808] Chr12:51915402 [GRCh38]
Chr12:52309186 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) single nucleotide variant Cardiovascular phenotype [RCV002413346]|Pulmonary hypertension, primary, 1 [RCV000488544]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001388094] Chr12:51915305 [GRCh38]
Chr12:52309089 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.653_654inv (p.Arg218Pro) inversion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488551] Chr12:51914466..51914467 [GRCh38]
Chr12:52308250..52308251 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488579]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002272257] Chr12:51920841 [GRCh38]
Chr12:52314625 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488581]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001851300] Chr12:51916129 [GRCh38]
Chr12:52309913 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488621] Chr12:51920814 [GRCh38]
Chr12:52314598 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488626] Chr12:51915240 [GRCh38]
Chr12:52309024 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) single nucleotide variant Cardiovascular phenotype [RCV002438191]|Pulmonary hypertension, primary, 1 [RCV000488635]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000795036] Chr12:51913330 [GRCh38]
Chr12:52307114 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) single nucleotide variant Cardiovascular phenotype [RCV002395184]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488647]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002527017]|not provided [RCV000756968] Chr12:51920766 [GRCh38]
Chr12:52314550 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488652]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000810385] Chr12:51919008 [GRCh38]
Chr12:52312792 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488655] Chr12:51914041 [GRCh38]
Chr12:52307825 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) single nucleotide variant Cardiovascular phenotype [RCV002413347]|Pulmonary hypertension, primary, 1 [RCV000488673] Chr12:51915306 [GRCh38]
Chr12:52309090 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1450delinsTG (p.Arg484fs) indel Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488689] Chr12:51920831 [GRCh38]
Chr12:52314615 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488694]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001241423] Chr12:51920817 [GRCh38]
Chr12:52314601 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488697]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640435]|not provided [RCV000756962] Chr12:51915407 [GRCh38]
Chr12:52309191 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) single nucleotide variant Cardiovascular phenotype [RCV002395186]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488710]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262033]|not provided [RCV003480652] Chr12:51920849 [GRCh38]
Chr12:52314633 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.37del (p.Leu13fs) deletion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488723] Chr12:51912511 [GRCh38]
Chr12:52306295 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488738] Chr12:51919018 [GRCh38]
Chr12:52312802 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488764]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002496883] Chr12:51916182 [GRCh38]
Chr12:52309966 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1388del (p.Gly463fs) deletion Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488779] Chr12:51920768 [GRCh38]
Chr12:52314552 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) single nucleotide variant Cardiovascular phenotype [RCV002431425]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488783]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509546] Chr12:51915270 [GRCh38]
Chr12:52309054 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488786] Chr12:51914050 [GRCh38]
Chr12:52307834 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1450C>G (p.Arg484Gly) single nucleotide variant Pulmonary arterial hypertension [RCV001003755]|Pulmonary hypertension, primary, 1 [RCV000488804] Chr12:51920831 [GRCh38]
Chr12:52314615 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp) single nucleotide variant Cardiovascular phenotype [RCV002404279]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488852]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000525054]|not specified [RCV000507211] Chr12:51916042 [GRCh38]
Chr12:52309826 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys) single nucleotide variant Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488853]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000792743] Chr12:51916111 [GRCh38]
Chr12:52309895 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.936C>G (p.His312Gln) single nucleotide variant Pulmonary hypertension, primary, 1 [RCV000488872] Chr12:51915388 [GRCh38]
Chr12:52309172 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.*205G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000329417] Chr12:51921098 [GRCh38]
Chr12:52314882 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.-194A>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000292574] Chr12:51907507 [GRCh38]
Chr12:52301291 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.-129G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000346574] Chr12:51907572 [GRCh38]
Chr12:52301356 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.-58G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000384784] Chr12:51907643 [GRCh38]
Chr12:52301427 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.601C>T (p.Gln201Ter) single nucleotide variant Cardiovascular phenotype [RCV002358746]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640438]|not provided [RCV000627226] Chr12:51914049 [GRCh38]
Chr12:52307833 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.*1662A>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000319545] Chr12:51922555 [GRCh38]
Chr12:52316339 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*879G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000334882] Chr12:51921772 [GRCh38]
Chr12:52315556 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2098A>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000349908] Chr12:51922991 [GRCh38]
Chr12:52316775 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*131C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000367968] Chr12:51921024 [GRCh38]
Chr12:52314808 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*45del deletion Telangiectasia, hereditary hemorrhagic, type 1 [RCV000369205]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000755783] Chr12:51920932 [GRCh38]
Chr12:52314716 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.*856dup duplication Telangiectasia, hereditary hemorrhagic, type 1 [RCV000341108] Chr12:51921738..51921739 [GRCh38]
Chr12:52315522..52315523 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.*251A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000289736] Chr12:51921144 [GRCh38]
Chr12:52314928 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.313+7C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000767884] Chr12:51913357 [GRCh38]
Chr12:52307141 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter) single nucleotide variant not provided [RCV000627223] Chr12:51913684 [GRCh38]
Chr12:52307468 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.139_140insCG (p.Arg47fs) insertion Cardiovascular phenotype [RCV002395541]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509577]|not provided [RCV000599468] Chr12:51913176..51913177 [GRCh38]
Chr12:52306960..52306961 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1313T>C (p.Met438Thr) single nucleotide variant ACVRL1-related condition [RCV003965349]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640434] Chr12:51919051 [GRCh38]
Chr12:52312835 [GRCh37]
Chr12:12q13.13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.368T>C (p.Leu123Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640442] Chr12:51913613 [GRCh38]
Chr12:52307397 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1377+2T>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640448] Chr12:51919117 [GRCh38]
Chr12:52312901 [GRCh37]
Chr12:12q13.13
pathogenic
NC_000012.12:g.(?_51920739)_(51920913_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640456] Chr12:51920739..51920913 [GRCh38]
Chr12:52314523..52314697 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.105del (p.Cys36fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000585643] Chr12:51913142 [GRCh38]
Chr12:52306926 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1323_1324dup (p.Val442fs) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV000555428] Chr12:51919060..51919061 [GRCh38]
Chr12:52312844..52312845 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.58C>T (p.Gln20Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640433] Chr12:51912532 [GRCh38]
Chr12:52306316 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) single nucleotide variant ACVRL1-related condition [RCV003928086]|Cardiovascular phenotype [RCV002424437]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640449] Chr12:51915269 [GRCh38]
Chr12:52309053 [GRCh37]
Chr12:12q13.13
benign|likely benign
NC_000012.12:g.(?_51913954)_(51919135_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640454] Chr12:51913954..51919135 [GRCh38]
Chr12:52307738..52312919 [GRCh37]
Chr12:12q13.13
pathogenic
NC_000012.12:g.(?_51913079)_(51913790_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640455] Chr12:51913079..51913790 [GRCh38]
Chr12:52306863..52307574 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1406_1413dup (p.Trp472fs) duplication not provided [RCV000415834] Chr12:51920783..51920784 [GRCh38]
Chr12:52314567..52314568 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1413C>A (p.Cys471Ter) single nucleotide variant Cardiovascular phenotype [RCV002395381]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000552998] Chr12:51920794 [GRCh38]
Chr12:52314578 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.992T>C (p.Phe331Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000538925] Chr12:51915444 [GRCh38]
Chr12:52309228 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.542_545del (p.Asp181fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000535053] Chr12:51913988..51913991 [GRCh38]
Chr12:52307772..52307775 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000558413]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002512113] Chr12:51913185 [GRCh38]
Chr12:52306969 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1126A>G (p.Met376Val) single nucleotide variant Cardiovascular phenotype [RCV002448693]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000542069]|not provided [RCV002510918] Chr12:51916113 [GRCh38]
Chr12:52309897 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) single nucleotide variant ACVRL1-related condition [RCV003972558]|Cardiovascular phenotype [RCV002379275]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000863196]|not specified [RCV000413333] Chr12:51919086 [GRCh38]
Chr12:52312870 [GRCh37]
Chr12:12q13.13
benign|likely benign|uncertain significance
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter) single nucleotide variant Cardiovascular phenotype [RCV002392938]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488776]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000513497]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000533545]|not provided [RCV000414291] Chr12:51920816 [GRCh38]
Chr12:52314600 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=) single nucleotide variant Cardiovascular phenotype [RCV002442549]|not provided [RCV000728152] Chr12:51913340 [GRCh38]
Chr12:52307124 [GRCh37]
Chr12:12q13.13
likely benign|uncertain significance
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) single nucleotide variant Cardiovascular phenotype [RCV002334409]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001078671]|not provided [RCV000729531] Chr12:51913710 [GRCh38]
Chr12:52307494 [GRCh37]
Chr12:12q13.13
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.376G>A (p.Val126Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002506047]|not provided [RCV000434982] Chr12:51913621 [GRCh38]
Chr12:52307405 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1219G>A (p.Glu407Lys) single nucleotide variant Cardiovascular phenotype [RCV002365499]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001861514]|not provided [RCV000756964] Chr12:51916206 [GRCh38]
Chr12:52309990 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.1466T>C (p.Leu489Pro) single nucleotide variant Cardiovascular phenotype [RCV002393034]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002522537]|not provided [RCV000422770] Chr12:51920847 [GRCh38]
Chr12:52314631 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.140G>C (p.Arg47Pro) single nucleotide variant Cardiovascular phenotype [RCV002392977]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002272232]|not provided [RCV000426666] Chr12:51913177 [GRCh38]
Chr12:52306961 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.772+6G>A single nucleotide variant not specified [RCV000423261] Chr12:51914591 [GRCh38]
Chr12:52308375 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1247-15A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002061628]|not specified [RCV000426897] Chr12:51918970 [GRCh38]
Chr12:52312754 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.653G>C (p.Arg218Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000458880] Chr12:51914466 [GRCh38]
Chr12:52308250 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.889del (p.His297fs) deletion Cardiovascular phenotype [RCV002374809]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000459062] Chr12:51915338 [GRCh38]
Chr12:52309122 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.916_917delinsAA (p.Ala306Lys) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV000474312]|not provided [RCV000519342] Chr12:51915368..51915369 [GRCh38]
Chr12:52309152..52309153 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.916del (p.Ala306fs) deletion not provided [RCV000481312] Chr12:51915368 [GRCh38]
Chr12:52309152 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.623_624del (p.Val208fs) microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV000470739] Chr12:51914066..51914067 [GRCh38]
Chr12:52307850..52307851 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1478del (p.Ser493fs) deletion not specified [RCV000454432] Chr12:51920859 [GRCh38]
Chr12:52314643 [GRCh37]
Chr12:12q13.13
uncertain significance
NC_000012.12:g.(?_51920759)_(51923361_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000459907] Chr12:51920759..51923361 [GRCh38]
Chr12:52314543..52317145 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1033T>C (p.Cys345Arg) single nucleotide variant Cardiovascular phenotype [RCV002393154]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000463798] Chr12:51915485 [GRCh38]
Chr12:52309269 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln) single nucleotide variant Cardiovascular phenotype [RCV002436455]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488746]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000467491]|not provided [RCV001576840] Chr12:51916108 [GRCh38]
Chr12:52309892 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1027C>T (p.Gln343Ter) single nucleotide variant Cardiovascular phenotype [RCV002383932]|not provided [RCV000482644]|not specified [RCV001821404] Chr12:51915479 [GRCh38]
Chr12:52309263 [GRCh37]
Chr12:12q13.13
pathogenic|benign|no classifications from unflagged records
NM_000020.3(ACVRL1):c.302del (p.Leu101fs) deletion not provided [RCV000483150] Chr12:51913339 [GRCh38]
Chr12:52307123 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1416G>C (p.Trp472Cys) single nucleotide variant Cardiovascular phenotype [RCV002393155]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000464251]|not provided [RCV002221542] Chr12:51920797 [GRCh38]
Chr12:52314581 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1378-1G>A single nucleotide variant Cardiovascular phenotype [RCV003168848]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000471693] Chr12:51920758 [GRCh38]
Chr12:52314542 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1310A>G (p.Asp437Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000456833] Chr12:51919048 [GRCh38]
Chr12:52312832 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1217G>A (p.Trp406Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000475631] Chr12:51916204 [GRCh38]
Chr12:52309988 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) single nucleotide variant ACVRL1-related condition [RCV003915318]|Cardiovascular phenotype [RCV003168922]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001520290]|not provided [RCV003392300] Chr12:51916109 [GRCh38]
Chr12:52309893 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.313+40G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000464694] Chr12:51913390 [GRCh38]
Chr12:52307174 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.266G>T (p.Cys89Phe) single nucleotide variant ACVRL1-related condition [RCV003401489]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000475892]|not provided [RCV003221991] Chr12:51913303 [GRCh38]
Chr12:52307087 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.611TGG[1] (p.Val205del) microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV000476185] Chr12:51914059..51914061 [GRCh38]
Chr12:52307843..52307845 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1049-1G>A single nucleotide variant Cardiovascular phenotype [RCV002402291]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000457633]|not provided [RCV002523350] Chr12:51916035 [GRCh38]
Chr12:52309819 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.525+1del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000476471] Chr12:51913767 [GRCh38]
Chr12:52307551 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.841G>T (p.Glu281Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000465534]|not provided [RCV000578762] Chr12:51915293 [GRCh38]
Chr12:52309077 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1336C>T (p.Gln446Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000531463]|not provided [RCV000479233] Chr12:51919074 [GRCh38]
Chr12:52312858 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.41dup (p.Met15fs) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV000462051] Chr12:51912514..51912515 [GRCh38]
Chr12:52306298..52306299 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.190del (p.Gln64fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000458567] Chr12:51913223 [GRCh38]
Chr12:52307007 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.183del (p.Arg61fs) deletion Cardiovascular phenotype [RCV002411508]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000466064] Chr12:51913219 [GRCh38]
Chr12:52307003 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1004A>T (p.Asn335Ile) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000473695] Chr12:51915456 [GRCh38]
Chr12:52309240 [GRCh37]
Chr12:12q13.13
likely pathogenic|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_000020.3(ACVRL1):c.639T>G (p.Tyr213Ter) single nucleotide variant not provided [RCV000498210] Chr12:51914452 [GRCh38]
Chr12:52308236 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1048+2T>G single nucleotide variant not provided [RCV000498446] Chr12:51915502 [GRCh38]
Chr12:52309286 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.698C>T (p.Ser233Leu) single nucleotide variant Cardiovascular phenotype [RCV002367696]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001069361]|not provided [RCV002292558]|not specified [RCV000508251] Chr12:51914511 [GRCh38]
Chr12:52308295 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.822G>T (p.Trp274Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001857254]|not provided [RCV000508467] Chr12:51915274 [GRCh38]
Chr12:52309058 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.61+22A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002253497]|not provided [RCV001662504]|not specified [RCV000508573] Chr12:51912557 [GRCh38]
Chr12:52306341 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.154A>G (p.Thr52Ala) single nucleotide variant Cardiovascular phenotype [RCV002404288]|not provided [RCV000493775] Chr12:51913191 [GRCh38]
Chr12:52306975 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.625+110_625+130del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002286]|not provided [RCV001653866] Chr12:51914180..51914200 [GRCh38]
Chr12:52307964..52307984 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.375C>T (p.Pro125=) single nucleotide variant Cardiovascular phenotype [RCV003302743]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002056901]|not specified [RCV000506121] Chr12:51913620 [GRCh38]
Chr12:52307404 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.265T>C (p.Cys89Arg) single nucleotide variant Cardiovascular phenotype [RCV002455978]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001857255]|not specified [RCV000506417] Chr12:51913302 [GRCh38]
Chr12:52307086 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.271del (p.Asp91fs) deletion not specified [RCV000506541] Chr12:51913308 [GRCh38]
Chr12:52307092 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys) single nucleotide variant Cardiovascular phenotype [RCV002446962]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000554533]|not provided [RCV000494459] Chr12:51916122 [GRCh38]
Chr12:52309906 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.304G>C (p.Val102Leu) single nucleotide variant not specified [RCV000506557] Chr12:51913341 [GRCh38]
Chr12:52307125 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.626-53C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000506640]|not provided [RCV001618716] Chr12:51914386 [GRCh38]
Chr12:52308170 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1046T>G (p.Leu349Arg) single nucleotide variant not specified [RCV000506690] Chr12:51915498 [GRCh38]
Chr12:52309282 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1377+65A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000506854]|not provided [RCV000833922] Chr12:51919180 [GRCh38]
Chr12:52312964 [GRCh37]
Chr12:12q13.13
benign
NM_000020.2(ACVRL1):c.693_695delCTC (p.Ser233del) deletion not specified [RCV000506933] Chr12:51914506..51914508 [GRCh38]
Chr12:52308290..52308292 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.590C>A (p.Thr197Lys) single nucleotide variant not provided [RCV001577973]|not specified [RCV000506991] Chr12:51914038 [GRCh38]
Chr12:52307822 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.626-3C>G single nucleotide variant Cardiovascular phenotype [RCV002367695]|not provided [RCV003480657]|not specified [RCV000507309] Chr12:51914436 [GRCh38]
Chr12:52308220 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1285G>T (p.Val429Leu) single nucleotide variant not provided [RCV000492815] Chr12:51919023 [GRCh38]
Chr12:52312807 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1355C>T (p.Pro452Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002524906] Chr12:51919093 [GRCh38]
Chr12:52312877 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.625+110_625+125del deletion not specified [RCV000507500] Chr12:51914182..51914197 [GRCh38]
Chr12:52307966..52307981 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.914C>T (p.Ser305Phe) single nucleotide variant Cardiovascular phenotype [RCV002376938]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000808864] Chr12:51915366 [GRCh38]
Chr12:52309150 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1378-30T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000507620]|not provided [RCV001613326] Chr12:51920729 [GRCh38]
Chr12:52314513 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) single nucleotide variant not specified [RCV000507657] Chr12:51919008 [GRCh38]
Chr12:52312792 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV001205745]|not specified [RCV000507968] Chr12:51914553..51914554 [GRCh38]
Chr12:52308337..52308338 [GRCh37]
Chr12:12q13.13
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_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001865538]|not provided [RCV000493276] Chr12:51914046 [GRCh38]
Chr12:52307830 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.525+1G>A single nucleotide variant Cardiovascular phenotype [RCV002341193]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001387731]|not specified [RCV000508061] Chr12:51913771 [GRCh38]
Chr12:52307555 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.625+164T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000508151]|not provided [RCV001637053] Chr12:51914237 [GRCh38]
Chr12:52308021 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.262T>G (p.Tyr88Asp) single nucleotide variant Lip telangiectasia [RCV000626567] Chr12:51913299 [GRCh38]
Chr12:52307083 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.641del (p.Gly214fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000540514]|not provided [RCV003480674] Chr12:51914453 [GRCh38]
Chr12:52308237 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.329C>T (p.Ser110Leu) single nucleotide variant Cardiovascular phenotype [RCV002323970]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002060319] Chr12:51913574 [GRCh38]
Chr12:52307358 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640443] Chr12:51915377 [GRCh38]
Chr12:52309161 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640447]|not provided [RCV001816595] Chr12:51913243 [GRCh38]
Chr12:52307027 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) single nucleotide variant Cardiovascular phenotype [RCV002385943]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640451]|not specified [RCV000612336] Chr12:51915445 [GRCh38]
Chr12:52309229 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) deletion Cardiovascular phenotype [RCV002413524]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000538435] Chr12:51918986..51919005 [GRCh38]
Chr12:52312770..52312789 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.526-7C>A single nucleotide variant Cardiovascular phenotype [RCV002343273]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640436] Chr12:51913967 [GRCh38]
Chr12:52307751 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640445] Chr12:51916108 [GRCh38]
Chr12:52309892 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) insertion Cardiovascular phenotype [RCV002350270]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000535409]|not provided [RCV001821542] Chr12:51913988..51913989 [GRCh38]
Chr12:52307772..52307773 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.100dup (p.Cys34fs) duplication Cardiovascular phenotype [RCV002438237]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000512648] Chr12:51913136..51913137 [GRCh38]
Chr12:52306920..52306921 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640432] Chr12:51915259..51915260 [GRCh38]
Chr12:52309043..52309044 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) single nucleotide variant Cardiovascular phenotype [RCV003303025]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640437] Chr12:51913174 [GRCh38]
Chr12:52306958 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) single nucleotide variant Cardiovascular phenotype [RCV002449006]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640439]|not provided [RCV001756065] Chr12:51915303 [GRCh38]
Chr12:52309087 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance|no classifications from unflagged records
NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640440] Chr12:51916134 [GRCh38]
Chr12:52309918 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) single nucleotide variant Cardiovascular phenotype [RCV002458052]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640444]|not provided [RCV003325504] Chr12:51913273 [GRCh38]
Chr12:52307057 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.265T>G (p.Cys89Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640446] Chr12:51913302 [GRCh38]
Chr12:52307086 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1134C>T (p.Pro378=) single nucleotide variant Cardiovascular phenotype [RCV003162880]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640452] Chr12:51916121 [GRCh38]
Chr12:52309905 [GRCh37]
Chr12:12q13.13
likely benign
NC_000012.12:g.(?_51913539)_(51919135_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640453] Chr12:51913539..51919135 [GRCh38]
Chr12:52307323..52312919 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1204G>A (p.Gly402Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000513064]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002524955] Chr12:51916191 [GRCh38]
Chr12:52309975 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.200G>C (p.Arg67Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 1 [RCV000513095] Chr12:51913237 [GRCh38]
Chr12:52307021 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.-4G>T single nucleotide variant not provided [RCV000513114] Chr12:51912471 [GRCh38]
Chr12:52306255 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.772G>A (p.Gly258Ser) single nucleotide variant Cardiovascular phenotype [RCV003159651]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000513504]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000694605] Chr12:51914585 [GRCh38]
Chr12:52308369 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) single nucleotide variant Cardiovascular phenotype [RCV002360842]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000710057]|not provided [RCV002510967] Chr12:51916208 [GRCh38]
Chr12:52309992 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1331_1332dup (p.Asp445fs) microsatellite Cardiovascular phenotype [RCV002386230]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000699056] Chr12:51919061..51919062 [GRCh38]
Chr12:52312845..52312846 [GRCh37]
Chr12:12q13.13
pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13
uncertain significance
NM_000020.3(ACVRL1):c.940C>T (p.His314Tyr) single nucleotide variant Cardiovascular phenotype [RCV002369971]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000706665] Chr12:51915392 [GRCh38]
Chr12:52309176 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.557G>T (p.Ser186Ile) single nucleotide variant Cardiovascular phenotype [RCV002343486]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000695078] Chr12:51914005 [GRCh38]
Chr12:52307789 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.208G>A (p.Gly70Arg) single nucleotide variant Cardiovascular phenotype [RCV002422508]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000693390]|not provided [RCV001507803] Chr12:51913245 [GRCh38]
Chr12:52307029 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV000693547] Chr12:51916164..51916166 [GRCh38]
Chr12:52309948..52309950 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1036_1040del (p.Ile346fs) deletion Cardiovascular phenotype [RCV002388343]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000705854] Chr12:51915486..51915490 [GRCh38]
Chr12:52309270..52309274 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1220A>G (p.Glu407Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000691776] Chr12:51916207 [GRCh38]
Chr12:52309991 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.984C>A (p.His328Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000689543] Chr12:51915436 [GRCh38]
Chr12:52309220 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1042del (p.Asp348fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000689602] Chr12:51915494 [GRCh38]
Chr12:52309278 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1129G>A (p.Ala377Thr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000697373] Chr12:51916116 [GRCh38]
Chr12:52309900 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1246+1G>A single nucleotide variant Cardiovascular phenotype [RCV002388242]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000692751] Chr12:51916234 [GRCh38]
Chr12:52310018 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1048G>C (p.Gly350Arg) single nucleotide variant Cardiovascular phenotype [RCV002397491]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000707489] Chr12:51915500 [GRCh38]
Chr12:52309284 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.145del (p.Ala49fs) deletion Cardiovascular phenotype [RCV002388215]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000688794] Chr12:51913177 [GRCh38]
Chr12:52306961 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1448T>G (p.Leu483Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000685383] Chr12:51920829 [GRCh38]
Chr12:52314613 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1007T>A (p.Val336Glu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000696651] Chr12:51915459 [GRCh38]
Chr12:52309243 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.526-1G>A single nucleotide variant Cardiovascular phenotype [RCV002334295]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000691652] Chr12:51913973 [GRCh38]
Chr12:52307757 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe) single nucleotide variant Cardiovascular phenotype [RCV003353015]|Hereditary hemorrhagic telangiectasia [RCV000735961]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001245321] Chr12:51918987 [GRCh38]
Chr12:52312771 [GRCh37]
Chr12:12q13.13
benign|likely benign|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
NM_000020.3(ACVRL1):c.1377+249TG[19] microsatellite not provided [RCV001681925] Chr12:51919364..51919365 [GRCh38]
Chr12:52313148..52313149 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1378-556C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285651] Chr12:51920203 [GRCh38]
Chr12:52313987 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1377+247_1377+248insTCTG insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001286487] Chr12:51919362..51919363 [GRCh38]
Chr12:52313146..52313147 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.-5-468C>T single nucleotide variant not provided [RCV001680615] Chr12:51912002 [GRCh38]
Chr12:52305786 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.913T>C (p.Ser305Pro) single nucleotide variant Cardiovascular phenotype [RCV002370003]|not provided [RCV000755782] Chr12:51915365 [GRCh38]
Chr12:52309149 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.238C>T (p.Arg80Cys) single nucleotide variant not provided [RCV000755787] Chr12:51913275 [GRCh38]
Chr12:52307059 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1276T>A (p.Tyr426Asn) single nucleotide variant not provided [RCV000755789] Chr12:51919014 [GRCh38]
Chr12:52312798 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.870del (p.Arg291fs) deletion not provided [RCV000755790] Chr12:51915322 [GRCh38]
Chr12:52309106 [GRCh37]
Chr12:12q13.13
pathogenic
GRCh37/hg19 12q13.13(chr12:51880647-52370250)x3 copy number gain not provided [RCV000762723] Chr12:51880647..52370250 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1144del (p.Asp382fs) deletion not provided [RCV000755788] Chr12:51916130 [GRCh38]
Chr12:52309914 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.314-100G>A single nucleotide variant not provided [RCV001583659] Chr12:51913459 [GRCh38]
Chr12:52307243 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.858C>T (p.Tyr286=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000869203] Chr12:51915310 [GRCh38]
Chr12:52309094 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1089C>T (p.Asp363=) single nucleotide variant not provided [RCV000921424] Chr12:51916076 [GRCh38]
Chr12:52309860 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.786A>G (p.Ser262=) single nucleotide variant Cardiovascular phenotype [RCV002409282]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000966651] Chr12:51915238 [GRCh38]
Chr12:52309022 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.573C>G (p.Pro191=) single nucleotide variant Cardiovascular phenotype [RCV003307702]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001398472] Chr12:51914021 [GRCh38]
Chr12:52307805 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.840C>T (p.His280=) single nucleotide variant Cardiovascular phenotype [RCV002445091]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001444051] Chr12:51915292 [GRCh38]
Chr12:52309076 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1098C>T (p.Asn366=) single nucleotide variant Cardiovascular phenotype [RCV002454074]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001395787] Chr12:51916085 [GRCh38]
Chr12:52309869 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.9G>A (p.Leu3=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000865986]|not provided [RCV003392644] Chr12:51912483 [GRCh38]
Chr12:52306267 [GRCh37]
Chr12:12q13.13
likely benign|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.1042G>T (p.Asp348Tyr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001039802] Chr12:51915494 [GRCh38]
Chr12:52309278 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1055del (p.Ala352fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040207] Chr12:51916042 [GRCh38]
Chr12:52309826 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1084C>T (p.Leu362=) single nucleotide variant Cardiovascular phenotype [RCV002430073]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001287838] Chr12:51916071 [GRCh38]
Chr12:52309855 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.86del (p.Gly29fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001050752]|not provided [RCV001507801] Chr12:51913120 [GRCh38]
Chr12:52306904 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.626-60_626-59delinsT indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285093] Chr12:51914379..51914380 [GRCh38]
Chr12:52308163..52308164 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1345C>T (p.Pro449Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001062489] Chr12:51919083 [GRCh38]
Chr12:52312867 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1196G>A (p.Trp399Ter) single nucleotide variant Cardiovascular phenotype [RCV002339315]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001063612] Chr12:51916183 [GRCh38]
Chr12:52309967 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1153_1157dup (p.Thr387fs) duplication Cardiovascular phenotype [RCV002348459]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001065524] Chr12:51916138..51916139 [GRCh38]
Chr12:52309922..52309923 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1331dup (p.Asp445fs) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV001037437] Chr12:51919068..51919069 [GRCh38]
Chr12:52312852..52312853 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.655G>C (p.Gly219Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000808210] Chr12:51914468 [GRCh38]
Chr12:52308252 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NC_000012.12:g.(?_51912465)_(51920903_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000813984] Chr12:51912465..51920903 [GRCh38]
Chr12:52306249..52314687 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.77C>T (p.Pro26Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000865909] Chr12:51913114 [GRCh38]
Chr12:52306898 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.313+7C>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV002538932] Chr12:51913357 [GRCh38]
Chr12:52307141 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1446G>A (p.Ala482=) single nucleotide variant Cardiovascular phenotype [RCV002390882]|not provided [RCV000898177] Chr12:51920827 [GRCh38]
Chr12:52314611 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) single nucleotide variant ACVRL1-related condition [RCV003908186]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000863007] Chr12:51913991 [GRCh38]
Chr12:52307775 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.1010T>C (p.Leu337Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000857241] Chr12:51915462 [GRCh38]
Chr12:52309246 [GRCh37]
Chr12:12q13.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.294C>T (p.Asn98=) single nucleotide variant Cardiovascular phenotype [RCV002434106]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000869097] Chr12:51913331 [GRCh38]
Chr12:52307115 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1104G>A (p.Pro368=) single nucleotide variant Cardiovascular phenotype [RCV002427095]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000861694] Chr12:51916091 [GRCh38]
Chr12:52309875 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1275C>T (p.Phe425=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001426584] Chr12:51919013 [GRCh38]
Chr12:52312797 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.759C>T (p.His253=) single nucleotide variant Cardiovascular phenotype [RCV002390756]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000863544]|not provided [RCV003311902] Chr12:51914572 [GRCh38]
Chr12:52308356 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.303G>C (p.Leu101=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000899515] Chr12:51913340 [GRCh38]
Chr12:52307124 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.625+10G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509633] Chr12:51914083 [GRCh38]
Chr12:52307867 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1239C>T (p.Ile413=) single nucleotide variant Cardiovascular phenotype [RCV002372556]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001450243] Chr12:51916226 [GRCh38]
Chr12:52310010 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1030T>C (p.Cys344Arg) single nucleotide variant Cardiovascular phenotype [RCV002381809]|Pulmonary arterial hypertension [RCV001003754]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000812604] Chr12:51915482 [GRCh38]
Chr12:52309266 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.2:c.1377+45T>C single nucleotide variant not provided [RCV000833921] Chr12:52312944 [GRCh37]
Chr12:12q13.13
benign
NM_000020.2:c.1377+65A>G single nucleotide variant not provided [RCV000833922] Chr12:52312964 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.190C>T (p.Gln64Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000796690] Chr12:51913227 [GRCh38]
Chr12:52307011 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1190A>T (p.Asp397Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000815728] Chr12:51916177 [GRCh38]
Chr12:52309961 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.872_873del (p.Arg291fs) microsatellite Cardiovascular phenotype [RCV002370110]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000799743] Chr12:51915321..51915322 [GRCh38]
Chr12:52309105..52309106 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1378-248T>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000282]|not provided [RCV000838028] Chr12:51920511 [GRCh38]
Chr12:52314295 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.925G>C (p.Gly309Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000810629] Chr12:51915377 [GRCh38]
Chr12:52309161 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1027_1047del (p.Gln343_Leu349del) deletion Cardiovascular phenotype [RCV002381822]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000814801] Chr12:51915474..51915494 [GRCh38]
Chr12:52309258..52309278 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.269G>T (p.Cys90Phe) single nucleotide variant Cardiovascular phenotype [RCV002424882]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000807692] Chr12:51913306 [GRCh38]
Chr12:52307090 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.625+2T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000795111] Chr12:51914075 [GRCh38]
Chr12:52307859 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1025T>C (p.Leu342Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000791880] Chr12:51915477 [GRCh38]
Chr12:52309261 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.237dup (p.Arg80fs) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV000798900] Chr12:51913269..51913270 [GRCh38]
Chr12:52307053..52307054 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.267C>G (p.Cys89Trp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000808540] Chr12:51913304 [GRCh38]
Chr12:52307088 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1428del (p.Ser477fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000799411] Chr12:51920806 [GRCh38]
Chr12:52314590 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.685A>G (p.Lys229Glu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000817776] Chr12:51914498 [GRCh38]
Chr12:52308282 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1028A>C (p.Gln343Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000821394] Chr12:51915480 [GRCh38]
Chr12:52309264 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.*2440G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114699] Chr12:51923333 [GRCh38]
Chr12:52317117 [GRCh37]
Chr12:12q13.13
uncertain significance
NC_000012.12:g.(?_51920691)_(51920903_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV000794128] Chr12:51920691..51920903 [GRCh38]
Chr12:52314475..52314687 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1507C>T (p.Gln503Ter) single nucleotide variant not provided [RCV000782233] Chr12:51920888 [GRCh38]
Chr12:52314672 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) single nucleotide variant ACVRL1-related condition [RCV003906123]|Cardiovascular phenotype [RCV003307790]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000988854] Chr12:51914465 [GRCh38]
Chr12:52308249 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.270C>A (p.Cys90Ter) single nucleotide variant Cardiovascular phenotype [RCV002424898]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000810225] Chr12:51913307 [GRCh38]
Chr12:52307091 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV000812276] Chr12:51916175..51916176 [GRCh38]
Chr12:52309959..52309960 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1031G>T (p.Cys344Phe) single nucleotide variant Cardiovascular phenotype [RCV002381824]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000815009] Chr12:51915483 [GRCh38]
Chr12:52309267 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) single nucleotide variant Cardiovascular phenotype [RCV002415999]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000864332] Chr12:51913115 [GRCh38]
Chr12:52306899 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.772+305T>A single nucleotide variant not provided [RCV000833396] Chr12:51914890 [GRCh38]
Chr12:52308674 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1093G>A (p.Gly365Ser) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000802035] Chr12:51916080 [GRCh38]
Chr12:52309864 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1416G>T (p.Trp472Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000807860] Chr12:51920797 [GRCh38]
Chr12:52314581 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1034G>A (p.Cys345Tyr) single nucleotide variant ACVRL1-related condition [RCV003396430]|Cardiovascular phenotype [RCV002390658]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000816040]|not provided [RCV001766716] Chr12:51915486 [GRCh38]
Chr12:52309270 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1046T>C (p.Leu349Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000819566]|not provided [RCV001507810] Chr12:51915498 [GRCh38]
Chr12:52309282 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.626-59G>T single nucleotide variant not provided [RCV000835267] Chr12:51914380 [GRCh38]
Chr12:52308164 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.651G>A (p.Trp217Ter) single nucleotide variant Cardiovascular phenotype [RCV002363104]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000811840] Chr12:51914464 [GRCh38]
Chr12:52308248 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.706G>A (p.Glu236Lys) single nucleotide variant Cardiovascular phenotype [RCV003307520]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000814495]|not provided [RCV001507806] Chr12:51914519 [GRCh38]
Chr12:52308303 [GRCh37]
Chr12:12q13.13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.*46T>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114505] Chr12:51920939 [GRCh38]
Chr12:52314723 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1120C>A (p.Arg374=) single nucleotide variant not provided [RCV000994927] Chr12:51916107 [GRCh38]
Chr12:52309891 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.830C>A (p.Thr277Lys) single nucleotide variant ACVRL1-related condition [RCV003393888]|Cardiovascular phenotype [RCV002429898]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001211474]|not provided [RCV001507807] Chr12:51915282 [GRCh38]
Chr12:52309066 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1112G>C (p.Gly371Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001228332] Chr12:51916099 [GRCh38]
Chr12:52309883 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.625+1G>T single nucleotide variant Cardiovascular phenotype [RCV002365953]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001211959] Chr12:51914074 [GRCh38]
Chr12:52307858 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.72_79del (p.Lys25fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000940] Chr12:51913107..51913114 [GRCh38]
Chr12:52306891..52306898 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.*980C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113231] Chr12:51921873 [GRCh38]
Chr12:52315657 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2268G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113330] Chr12:51923161 [GRCh38]
Chr12:52316945 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.223G>T (p.Glu75Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001201708] Chr12:51913260 [GRCh38]
Chr12:52307044 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.336del (p.Gln112fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001230171] Chr12:51913581 [GRCh38]
Chr12:52307365 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.621T>A (p.Cys207Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001222170] Chr12:51914069 [GRCh38]
Chr12:52307853 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.929_932del (p.Leu310fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001220846] Chr12:51915380..51915383 [GRCh38]
Chr12:52309164..52309167 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1258G>A (p.Asp420Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001222263] Chr12:51918996 [GRCh38]
Chr12:52312780 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.514dup (p.Ser172fs) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV001222341] Chr12:51913758..51913759 [GRCh38]
Chr12:52307542..52307543 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1376C>T (p.Pro459Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001241374] Chr12:51919114 [GRCh38]
Chr12:52312898 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.102C>A (p.Cys34Ter) single nucleotide variant Cardiovascular phenotype [RCV002379838]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001221492] Chr12:51913139 [GRCh38]
Chr12:52306923 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1043_1048+1dup duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV001239929] Chr12:51915493..51915494 [GRCh38]
Chr12:52309277..52309278 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.874C>T (p.Gln292Ter) single nucleotide variant Cardiovascular phenotype [RCV002375157]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001210376] Chr12:51915326 [GRCh38]
Chr12:52309110 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.*478G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001110468] Chr12:51921371 [GRCh38]
Chr12:52315155 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*590G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111221] Chr12:51921483 [GRCh38]
Chr12:52315267 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*814G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111223] Chr12:51921707 [GRCh38]
Chr12:52315491 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2113C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111325] Chr12:51923006 [GRCh38]
Chr12:52316790 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1599A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001108967] Chr12:51922492 [GRCh38]
Chr12:52316276 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.289_294del (p.His97_Asn98del) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV003236766] Chr12:51913322..51913327 [GRCh38]
Chr12:52307106..52307111 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.625+146C>T single nucleotide variant not provided [RCV001554887] Chr12:51914219 [GRCh38]
Chr12:52308003 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.526-6C>G single nucleotide variant Cardiovascular phenotype [RCV002343748]|not provided [RCV001572165] Chr12:51913968 [GRCh38]
Chr12:52307752 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.253G>A (p.Val85Ile) single nucleotide variant Inborn genetic diseases [RCV002592479]|not provided [RCV001586923] Chr12:51913290 [GRCh38]
Chr12:52307074 [GRCh37]
Chr12:12q13.13
likely benign|uncertain significance
NM_000020.3(ACVRL1):c.773-292G>A single nucleotide variant not provided [RCV001587982] Chr12:51914933 [GRCh38]
Chr12:52308717 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.772+132TTTAA[10] microsatellite not provided [RCV001670777] Chr12:51914716..51914717 [GRCh38]
Chr12:52308500..52308501 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1377+297T>A single nucleotide variant not provided [RCV001635605] Chr12:51919412 [GRCh38]
Chr12:52313196 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.918G>C (p.Ala306=) single nucleotide variant Cardiovascular phenotype [RCV002372621]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001444485] Chr12:51915370 [GRCh38]
Chr12:52309154 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.978T>C (p.Ile326=) single nucleotide variant Cardiovascular phenotype [RCV002382028]|not provided [RCV000881225] Chr12:51915430 [GRCh38]
Chr12:52309214 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.69T>C (p.Pro23=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001424354] Chr12:51913106 [GRCh38]
Chr12:52306890 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.888C>G (p.Pro296=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001498788] Chr12:51915340 [GRCh38]
Chr12:52309124 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.237del (p.Arg80fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040491] Chr12:51913270 [GRCh38]
Chr12:52307054 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001198970] Chr12:51914046 [GRCh38]
Chr12:52307830 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.615G>A (p.Val205=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001061506] Chr12:51914063 [GRCh38]
Chr12:52307847 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001203641] Chr12:51913243 [GRCh38]
Chr12:52307027 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1231_1246+4dup duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV001066276] Chr12:51916217..51916218 [GRCh38]
Chr12:52310001..52310002 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.*871C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113230] Chr12:51921764 [GRCh38]
Chr12:52315548 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001203796] Chr12:51915310 [GRCh38]
Chr12:52309094 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001208358] Chr12:51920800 [GRCh38]
Chr12:52314584 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001224004] Chr12:51913268 [GRCh38]
Chr12:52307052 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001227831] Chr12:51914537 [GRCh38]
Chr12:52308321 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV001243907]|not provided [RCV003223711] Chr12:51915299..51915305 [GRCh38]
Chr12:52309083..52309089 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001224773] Chr12:51914444 [GRCh38]
Chr12:52308228 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001225097] Chr12:51920846 [GRCh38]
Chr12:52314630 [GRCh37]
Chr12:12q13.13
uncertain significance
NC_000012.12:g.(?_51913089)_(51916243_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001032466] Chr12:52306873..52310027 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001225623]|not provided [RCV001751437] Chr12:51915431 [GRCh38]
Chr12:52309215 [GRCh37]
Chr12:12q13.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV000934877] Chr12:51919061 [GRCh38]
Chr12:52312845 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV001401063] Chr12:51915379..51915380 [GRCh38]
Chr12:52309163..52309164 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001436781] Chr12:51915493 [GRCh38]
Chr12:52309277 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1377+249TG[18] microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV001803390]|not provided [RCV001720828] Chr12:51919364..51919367 [GRCh38]
Chr12:52313148..52313151 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1247-230T>C single nucleotide variant not provided [RCV001547892] Chr12:51918755 [GRCh38]
Chr12:52312539 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp) single nucleotide variant Cardiovascular phenotype [RCV002427444]|not provided [RCV000994925] Chr12:51913119 [GRCh38]
Chr12:52306903 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.191A>C (p.Gln64Pro) single nucleotide variant Cardiovascular phenotype [RCV002410659] Chr12:51913228 [GRCh38]
Chr12:52307012 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1247-195C>T single nucleotide variant not provided [RCV001561294] Chr12:51918790 [GRCh38]
Chr12:52312574 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1377+249TG[23] microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV001810105]|not provided [RCV001590900] Chr12:51919363..51919364 [GRCh38]
Chr12:52313147..52313148 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.*2034G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111324] Chr12:51922927 [GRCh38]
Chr12:52316711 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*2252G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111326] Chr12:51923145 [GRCh38]
Chr12:52316929 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1030_1048+18del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001037493] Chr12:51915478..51915514 [GRCh38]
Chr12:52309262..52309298 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.714del (p.Trp239fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001043944] Chr12:51914526 [GRCh38]
Chr12:52308310 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1377+636C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002351] Chr12:51919751 [GRCh38]
Chr12:52313535 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.526-11C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113124] Chr12:51913963 [GRCh38]
Chr12:52307747 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113126] Chr12:51914535 [GRCh38]
Chr12:52308319 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001065552] Chr12:51913159 [GRCh38]
Chr12:52306943 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1377+4A>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001287259] Chr12:51919119 [GRCh38]
Chr12:52312903 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) single nucleotide variant Cardiovascular phenotype [RCV002391069]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000141]|not provided [RCV001843955] Chr12:51916233 [GRCh38]
Chr12:52310017 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.647T>G (p.Val216Gly) single nucleotide variant Pulmonary arterial hypertension [RCV001003752] Chr12:51914460 [GRCh38]
Chr12:52308244 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) single nucleotide variant Pulmonary arterial hypertension [RCV001003758]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001060097] Chr12:51920832 [GRCh38]
Chr12:52314616 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.-168G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001110385] Chr12:51907533 [GRCh38]
Chr12:52301317 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*132G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001110467] Chr12:51921025 [GRCh38]
Chr12:52314809 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111121] Chr12:51913307 [GRCh38]
Chr12:52307091 [GRCh37]
Chr12:12q13.13
conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111122] Chr12:51913676 [GRCh38]
Chr12:52307460 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*592G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111222] Chr12:51921485 [GRCh38]
Chr12:52315269 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*823C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111224] Chr12:51921716 [GRCh38]
Chr12:52315500 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040640] Chr12:51916184 [GRCh38]
Chr12:52309968 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040884] Chr12:51914499 [GRCh38]
Chr12:52308283 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) single nucleotide variant Cardiovascular phenotype [RCV002374913]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001052514] Chr12:51915434 [GRCh38]
Chr12:52309218 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001054999] Chr12:51912479 [GRCh38]
Chr12:52306263 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001058436] Chr12:51916150..51916164 [GRCh38]
Chr12:52309934..52309948 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) single nucleotide variant Cardiovascular phenotype [RCV002374963]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001063960] Chr12:51919015 [GRCh38]
Chr12:52312799 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.940C>A (p.His314Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001064308] Chr12:51915392 [GRCh38]
Chr12:52309176 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.196C>T (p.His66Tyr) single nucleotide variant not provided [RCV001581037] Chr12:51913233 [GRCh38]
Chr12:52307017 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.772+132TTTAA[11] microsatellite not provided [RCV001643823] Chr12:51914716..51914717 [GRCh38]
Chr12:52308500..52308501 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1377+249TG[21] microsatellite not provided [RCV001666590] Chr12:51919363..51919364 [GRCh38]
Chr12:52313147..52313148 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) single nucleotide variant Cardiovascular phenotype [RCV002372753]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001037203] Chr12:51919009 [GRCh38]
Chr12:52312793 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.982C>G (p.His328Asp) single nucleotide variant Pulmonary arterial hypertension [RCV001003753]|not provided [RCV001759682] Chr12:51915434 [GRCh38]
Chr12:52309218 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) duplication Cardiovascular phenotype [RCV002379903]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001236580] Chr12:51913162..51913163 [GRCh38]
Chr12:52306946..52306947 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001043578] Chr12:51915368 [GRCh38]
Chr12:52309152 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) single nucleotide variant Cardiovascular phenotype [RCV002418696]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001207474] Chr12:51913244 [GRCh38]
Chr12:52307028 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001217789] Chr12:51916107 [GRCh38]
Chr12:52309891 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.626-9G>A single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001063782] Chr12:51914430 [GRCh38]
Chr12:52308214 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) single nucleotide variant Cardiovascular phenotype [RCV002365802]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113125] Chr12:51914494 [GRCh38]
Chr12:52308278 [GRCh37]
Chr12:12q13.13
benign|likely benign
NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) single nucleotide variant Cardiovascular phenotype [RCV002320218]|Pulmonary arterial hypertension [RCV001003751] Chr12:51913579 [GRCh38]
Chr12:52307363 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.*1107G>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114589] Chr12:51922000 [GRCh38]
Chr12:52315784 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1369C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114590] Chr12:51922262 [GRCh38]
Chr12:52316046 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) single nucleotide variant Cardiovascular phenotype [RCV002356882]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001205846] Chr12:51914073 [GRCh38]
Chr12:52307857 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001035910] Chr12:51920808 [GRCh38]
Chr12:52314592 [GRCh37]
Chr12:12q13.13
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) single nucleotide variant ACVRL1-related condition [RCV003405244]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001044961] Chr12:51916051 [GRCh38]
Chr12:52309835 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) single nucleotide variant Cardiovascular phenotype [RCV002339285]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001056963] Chr12:51916176 [GRCh38]
Chr12:52309960 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001059934] Chr12:51920808 [GRCh38]
Chr12:52314592 [GRCh37]
Chr12:12q13.13
pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001064025] Chr12:51915467 [GRCh38]
Chr12:52309251 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114504] Chr12:51916150 [GRCh38]
Chr12:52309934 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001205003] Chr12:51920840 [GRCh38]
Chr12:52314624 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1560A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001108966] Chr12:51922453 [GRCh38]
Chr12:52316237 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.*1676T>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001108968] Chr12:51922569 [GRCh38]
Chr12:52316353 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001196394] Chr12:51913597 [GRCh38]
Chr12:52307381 [GRCh37]
Chr12:12q13.13
pathogenic
NC_000012.12:g.(?_51912465)_(51912545_?)del deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001031098] Chr12:52306249..52306329 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.772+1G>C single nucleotide variant Cardiovascular phenotype [RCV002400218]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001036645]|not provided [RCV003480911] Chr12:51914586 [GRCh38]
Chr12:52308370 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001039935] Chr12:51916120 [GRCh38]
Chr12:52309904 [GRCh37]
Chr12:12q13.13
likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262030] Chr12:51920829 [GRCh38]
Chr12:52314613 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262032] Chr12:51920840 [GRCh38]
Chr12:52314624 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.375dup (p.Val126fs) duplication Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262079] Chr12:51913616..51913617 [GRCh38]
Chr12:52307400..52307401 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262026] Chr12:51916158 [GRCh38]
Chr12:52309942 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1472A>G (p.Lys491Arg) single nucleotide variant not provided [RCV001310656] Chr12:51920853 [GRCh38]
Chr12:52314637 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.400G>A (p.Ala134Thr) single nucleotide variant not provided [RCV001310654] Chr12:51913645 [GRCh38]
Chr12:52307429 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001334154] Chr12:51918985 [GRCh38]
Chr12:52312769 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262024] Chr12:51915492 [GRCh38]
Chr12:52309276 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262028] Chr12:51919036 [GRCh38]
Chr12:52312820 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) duplication Cardiovascular phenotype [RCV002393672]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262029] Chr12:51913174..51913175 [GRCh38]
Chr12:52306958..52306959 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262080] Chr12:51913720 [GRCh38]
Chr12:52307504 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.626-2A>G single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262081] Chr12:51914437 [GRCh38]
Chr12:52308221 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262082] Chr12:51915282 [GRCh38]
Chr12:52309066 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262085] Chr12:51915400 [GRCh38]
Chr12:52309184 [GRCh37]
Chr12:12q13.13
likely pathogenic|likely benign|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262023] Chr12:51915489..51915491 [GRCh38]
Chr12:52309273..52309275 [GRCh37]
Chr12:12q13.13
likely pathogenic|conflicting interpretations of pathogenicity
NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) microsatellite Cardiovascular phenotype [RCV002393673]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262031]|not provided [RCV003236885] Chr12:51920837..51920839 [GRCh38]
Chr12:52314621..52314623 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|uncertain significance
NM_000020.3(ACVRL1):c.259del (p.His87fs) deletion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262034] Chr12:51913295 [GRCh38]
Chr12:52307079 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.-5-465A>G single nucleotide variant not provided [RCV001527932] Chr12:51912005 [GRCh38]
Chr12:52305789 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262025] Chr12:51916140 [GRCh38]
Chr12:52309924 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1246+5G>A single nucleotide variant Cardiovascular phenotype [RCV002393671]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262027] Chr12:51916238 [GRCh38]
Chr12:52310022 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262083] Chr12:51915300 [GRCh38]
Chr12:52309084 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr) insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262084] Chr12:51915368..51915369 [GRCh38]
Chr12:52309152..52309153 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.1378-615_1378-614insGTTGATGAGCTTCCTGGGATGA insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285650] Chr12:51920144..51920145 [GRCh38]
Chr12:52313928..52313929 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs) microsatellite Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285903] Chr12:51913331..51913332 [GRCh38]
Chr12:52307115..52307116 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001320257] Chr12:51914550 [GRCh38]
Chr12:52308334 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT indel Telangiectasia, hereditary hemorrhagic, type 2 [RCV001351071] Chr12:51915503..51915504 [GRCh38]
Chr12:52309287..52309288 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) single nucleotide variant Cardiovascular phenotype [RCV002384450]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001337840] Chr12:51919115 [GRCh38]
Chr12:52312899 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1282G>A (p.Val428Met) single nucleotide variant not provided [RCV001310655] Chr12:51919020 [GRCh38]
Chr12:52312804 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001313821] Chr12:51920792 [GRCh38]
Chr12:52314576 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.990C>T (p.Asp330=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001414393] Chr12:51915442 [GRCh38]
Chr12:52309226 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1378-417C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001289853] Chr12:51920342 [GRCh38]
Chr12:52314126 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001284954] Chr12:51914500 [GRCh38]
Chr12:52308284 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001382876] Chr12:51913158 [GRCh38]
Chr12:52306942 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) single nucleotide variant Cardiovascular phenotype [RCV002384546]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001383045] Chr12:51919035 [GRCh38]
Chr12:52312819 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001373499] Chr12:51913583 [GRCh38]
Chr12:52307367 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001320160] Chr12:51913288 [GRCh38]
Chr12:52307072 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1378-699C>T single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285487] Chr12:51920060 [GRCh38]
Chr12:52313844 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.1378-490_1378-489insTGA insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285795] Chr12:51920269..51920270 [GRCh38]
Chr12:52314053..52314054 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001342287] Chr12:51915465 [GRCh38]
Chr12:52309249 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys) single nucleotide variant Cardiovascular phenotype [RCV002456418]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001316742] Chr12:51913300 [GRCh38]
Chr12:52307084 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001295230] Chr12:51920786 [GRCh38]
Chr12:52314570 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001299375] Chr12:51913614 [GRCh38]
Chr12:52307398 [GRCh37]
Chr12:12q13.13
uncertain significance
NM_000020.3(ACVRL1):c.314-49G>C single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001287578] Chr12:51913510 [GRCh38]
Chr12:52307294 [GRCh37]
Chr12:12q13.13
benign
NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001286743] Chr12:51915451 [GRCh38]
Chr12:52309235 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly) single nucleotide variant not provided [RCV001507802] Chr12:51913236 [GRCh38]
Chr12:52307020 [GRCh37]
Chr12:12q13.13
likely pathogenic
NM_000020.3(ACVRL1):c.525+2T>C single nucleotide variant Cardiovascular phenotype [RCV002343698]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001882548]|not provided [RCV001507804] Chr12:51913772 [GRCh38]
Chr12:52307556 [GRCh37]
Chr12:12q13.13
pathogenic
NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=) single nucleotide variant Cardiovascular phenotype [RCV002395947]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001416755] Chr12:51920890 [GRCh38]
Chr12:52314674 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=) single nucleotide variant Cardiovascular phenotype [RCV002396073]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001457721] Chr12:51920786 [GRCh38]
Chr12:52314570 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.111G>A (p.Glu37=) single nucleotide variant ACVRL1-related condition [RCV003898402]|Cardiovascular phenotype [RCV002438912]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001399213] Chr12:51913148 [GRCh38]
Chr12:52306932 [GRCh37]
Chr12:12q13.13
likely benign
NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala) single nucleotide variant Telangiectasia, hereditary hemorrhagic, type 2 [RCV001378121] Chr12:51919063 [GRCh38]
Chr12:52312847 [GRCh37]
Chr12:12q13.13
pathogenic|likely pathogenic
NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=) single nucleotide variant Cardiovascular phenotype [RCV003160746]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001436313] Chr12:51915484 [GRCh38]
Chr12:52309268 [GRCh37]
Chr12:12q13.13
likely benign
NC_000012.11:g.52308281_52308282insAlu insertion Telangiectasia, hereditary hemorrhagic, type 2 [RCV001385997]|not provided [RCV002551546] Chr12:52308281..52308282 [GRCh37]
Chr12:12q13.13
pathogenic|no classifications from unflagged records
NM_000020.3(ACVRL1):c.1010del (p.Leu337fs)