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# | 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;. |
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 | PMID:38294582 |
ACVRL1 (Homo sapiens - human) |
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Acvrl1 (Mus musculus - house mouse) |
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Acvrl1 (Rattus norvegicus - Norway rat) |
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Acvrl1 (Chinchilla lanigera - long-tailed chinchilla) |
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ACVRL1 (Pan paniscus - bonobo/pygmy chimpanzee) |
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ACVRL1 (Canis lupus familiaris - dog) |
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Acvrl1 (Ictidomys tridecemlineatus - thirteen-lined ground squirrel) |
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ACVRL1 (Sus scrofa - pig) |
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ACVRL1 (Chlorocebus sabaeus - green monkey) |
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Acvrl1 (Heterocephalus glaber - naked mole-rat) |
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Variants in ACVRL1
802 total 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 disorder [RCV004547469]|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 provided [RCV004707995]|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 provided [RCV004706547]|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 disorder [RCV004551293]|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 |
conflicting interpretations of pathogenicity|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]|not provided [RCV004800953] | Chr12:51914466 [GRCh38] Chr12:52308250 [GRCh37] Chr12:12q13.13 |
likely pathogenic|uncertain significance |
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 disorder [RCV004553546]|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] Chr12:51920604..51920605 [GRCh38] Chr12:52314388 [GRCh37] Chr12:52314388..52314389 [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 disorder [RCV004553062]|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]|Hereditary hemorrhagic telangiectasia [RCV003993880]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000689218]|not provided [RCV000197808] | Chr12:51919116 [GRCh38] Chr12:52312900 [GRCh37] Chr12:12q13.13 |
pathogenic|likely pathogenic |
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) | single nucleotide variant | Cardiovascular phenotype [RCV002321779]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000457910]|not provided [RCV004708099]|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]|Hereditary hemorrhagic telangiectasia [RCV004767134]|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]|not specified [RCV004800329] | Chr12:51914495 [GRCh38] Chr12:52308279 [GRCh37] Chr12:12q13.13 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
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 disorder [RCV003235117]|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 provided [RCV004706654]|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]|not provided [RCV004696886] | 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] Chr12:51913524..51913525 [GRCh38] Chr12:52307308 [GRCh37] Chr12:52307308..52307309 [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]|not provided [RCV004708276] | 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]|not provided [RCV004708279] | Chr12:51923273 [GRCh38] Chr12:51923273..51923274 [GRCh38] Chr12:52317057 [GRCh37] Chr12:52317057..52317058 [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]|not provided [RCV004708278] | 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]|not provided [RCV004706990] | 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]|not provided [RCV004708277] | 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]|not provided [RCV004706991] | 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]|not provided [RCV004706992] | 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]|not provided [RCV004708280] | 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]|not provided [RCV004706993] | 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 disorder [RCV004551616]|Cardiovascular phenotype [RCV002420248]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488479]|See cases [RCV004584390]|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]|Hereditary factor VIII deficiency disease [RCV004813103]|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]|Hereditary hemorrhagic telangiectasia [RCV004017643]|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 disorder [RCV004547800]|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 disorder [RCV004547801]|Cardiovascular phenotype [RCV002424437]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640449]|not provided [RCV004584780] | 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 disorder [RCV004551414]|Cardiovascular phenotype [RCV002379275]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000863196]|not provided [RCV004597793]|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]|Hereditary hemorrhagic telangiectasia [RCV003993947]|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 | ACVRL1-related disorder [RCV004740433]|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 disorder [RCV004551569]|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 disorder [RCV004551532]|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 | ACVRL1-related disorder [RCV004722792]|Cardiovascular phenotype [RCV002402291]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000457633]|not provided [RCV002523350] | Chr12:51916035 [GRCh38] Chr12:52309819 [GRCh37] Chr12:12q13.13 |
pathogenic|likely pathogenic |
NM_000020.3(ACVRL1):c.525+1del | deletion | Cardiovascular phenotype [RCV004022871]|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 | ACVRL1-related disorder [RCV004722791]|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]|Hereditary hemorrhagic telangiectasia [RCV004017648]|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 | ACVRL1-related disorder [RCV004740289]|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 provided [RCV004701578]|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]|not provided [RCV004791636] | 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]|not provided [RCV004791659] | 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 | ACVRL1-related disorder [RCV004722892]|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|no classifications from unflagged records |
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]|not provided [RCV004792386] | 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 disorder [RCV004549927]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000863007]|not provided [RCV004584809] | 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]|Hereditary hemorrhagic telangiectasia [RCV003994122]|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 disorder [RCV004553529]|Cardiovascular phenotype [RCV003307790]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000988854]|not provided [RCV004569834] | 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 disorder [RCV004549894]|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 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
NM_000020.3(ACVRL1):c.*46T>G | single nucleotide variant | Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114505]|not provided [RCV004704409] | 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 disorder [RCV004548064]|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]|not specified [RCV004690030] | 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 | Cardiovascular phenotype [RCV004039510]|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 | Cardiovascular phenotype [RCV004029566]|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, typ |