| 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 specified [RCV000123529] |
Chr12:51912437 [GRCh38]
Chr12:52306221 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.313+11C>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002321608]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000612903]|not specified [RCV000150155] |
Chr12:51913361 [GRCh38]
Chr12:52307145 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1378-339T>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285809]|not provided [RCV001673044] |
Chr12:51920420 [GRCh38]
Chr12:52314204 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1377+326G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001866]|not provided [RCV001673004] |
Chr12:51919441 [GRCh38]
Chr12:52313225 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) |
single nucleotide variant |
ACVRL1-related 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] |
Chr12:51914466 [GRCh38]
Chr12:52308250 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1377+249_1377+250insTGTGTG |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000971] |
Chr12:51919364..51919365 [GRCh38]
Chr12:52313148..52313149 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1378-216C>T |
single nucleotide variant |
ACVRL1-related 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]
Chr12:52314388 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.-5-227C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000283]|not provided [RCV001655660] |
Chr12:51912243 [GRCh38]
Chr12:52306027 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1378-405A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000285]|not provided [RCV001615103] |
Chr12:51920354 [GRCh38]
Chr12:52314138 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.773-3C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000915] |
Chr12:51915222 [GRCh38]
Chr12:52309006 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1378-711C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001228] |
Chr12:51920048 [GRCh38]
Chr12:52313832 [GRCh37]
Chr12:12q13.13 |
benign |
| NC_000012.12:g.51907469G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002338] |
Chr12:51907469 [GRCh38]
Chr12:52301253 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.62-69G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001390]|not provided [RCV001565436] |
Chr12:51913030 [GRCh38]
Chr12:52306814 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.314-65G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001391]|not provided [RCV001707861] |
Chr12:51913494 [GRCh38]
Chr12:52307278 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1132C>T (p.Pro378Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320216]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001393] |
Chr12:51916119 [GRCh38]
Chr12:52309903 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1378-217A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001001598]|not provided [RCV001709703] |
Chr12:51920542 [GRCh38]
Chr12:52314326 [GRCh37]
Chr12:12q13.13 |
benign |
| GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33 |
pathogenic |
| GRCh38/hg38 12q13.12-13.13(chr12:50633888-52851909)x1 |
copy number loss |
See cases [RCV000140716] |
Chr12:50633888..52851909 [GRCh38]
Chr12:51027671..53245693 [GRCh37]
Chr12:49313938..51531960 [NCBI36]
Chr12:12q13.12-13.13 |
pathogenic |
| GRCh38/hg38 12q13.12-13.13(chr12:50122359-53248460)x1 |
copy number loss |
See cases [RCV000142033] |
Chr12:50122359..53248460 [GRCh38]
Chr12:50516142..53642244 [GRCh37]
Chr12:48802409..51928511 [NCBI36]
Chr12:12q13.12-13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.484C>T (p.Leu162Phe) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001078539]|not provided [RCV000178021] |
Chr12:51913729 [GRCh38]
Chr12:52307513 [GRCh37]
Chr12:12q13.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.200G>A (p.Arg67Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002415829]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000534448]|not provided [RCV000200439] |
Chr12:51913237 [GRCh38]
Chr12:52307021 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.920C>A (p.Ala307Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372167]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001238032]|not provided [RCV000200622] |
Chr12:51915372 [GRCh38]
Chr12:52309156 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.406_409del (p.Gly136fs) |
deletion |
ACVRL1-related 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 specified [RCV000197995] |
Chr12:51913575 [GRCh38]
Chr12:52307359 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|benign|likely benign |
| NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002381661]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000762899]|not provided [RCV000198205] |
Chr12:51915450 [GRCh38]
Chr12:52309234 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.682G>A (p.Val228Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002363002]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001340965]|not provided [RCV000198425] |
Chr12:51914495 [GRCh38]
Chr12:52308279 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance|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 specified [RCV000195590] |
Chr12:51914560 [GRCh38]
Chr12:52308344 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.1031_1032dup (p.Cys345fs) |
microsatellite |
not provided [RCV000199151] |
Chr12:51915480..51915481 [GRCh38]
Chr12:52309264..52309265 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1122del (p.Tyr375fs) |
deletion |
Cardiovascular phenotype [RCV002433872]|not provided [RCV000195947] |
Chr12:51916108 [GRCh38]
Chr12:52309892 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.-46C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000197]|not specified [RCV000199540] |
Chr12:51907655 [GRCh38]
Chr12:52301439 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1415G>A (p.Trp472Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388766]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001924863]|not provided [RCV003481162] |
Chr12:51920796 [GRCh38]
Chr12:52314580 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.269G>A (p.Cys90Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002426928]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262078]|not provided [RCV000196221] |
Chr12:51913306 [GRCh38]
Chr12:52307090 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.152G>A (p.Cys51Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002399717]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001857712]|not provided [RCV000200161] |
Chr12:51913189 [GRCh38]
Chr12:52306973 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.626-59del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000205909] |
Chr12:51914375 [GRCh38]
Chr12:52308159 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.573del (p.Phe192fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000547521] |
Chr12:51914018 [GRCh38]
Chr12:52307802 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1378-216C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000754826] |
Chr12:51920543 [GRCh38]
Chr12:52314327 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.677T>A (p.Val226Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002536556]|not provided [RCV000755784] |
Chr12:51914490 [GRCh38]
Chr12:52308274 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.905T>C (p.Leu302Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002370004]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040697]|not provided [RCV000755785] |
Chr12:51915357 [GRCh38]
Chr12:52309141 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.1048+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002405206]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509668]|not provided [RCV001507811] |
Chr12:51915501 [GRCh38]
Chr12:52309285 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.599G>A (p.Arg200Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002524996]|not provided [RCV000513950] |
Chr12:51914047 [GRCh38]
Chr12:52307831 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1228C>T (p.Arg410Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000226319] |
Chr12:51916215 [GRCh38]
Chr12:52309999 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.822G>A (p.Trp274Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002408944]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000231890] |
Chr12:51915274 [GRCh38]
Chr12:52309058 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.693CTC[1] (p.Ser233del) |
microsatellite |
Cardiovascular phenotype [RCV002372240]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000230219]|not provided [RCV001507805]|not specified [RCV000506933] |
Chr12:51914506..51914508 [GRCh38]
Chr12:52308290..52308292 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1321G>A (p.Val441Met) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001058165]|not provided [RCV000755786] |
Chr12:51919059 [GRCh38]
Chr12:52312843 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1118A>G (p.Lys373Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002485962]|not provided [RCV000756965] |
Chr12:51916105 [GRCh38]
Chr12:52309889 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1103C>T (p.Pro368Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458356]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002485963]|not provided [RCV000756966] |
Chr12:51916090 [GRCh38]
Chr12:52309874 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1115C>T (p.Thr372Ile) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001855885]|not provided [RCV000756967] |
Chr12:51916102 [GRCh38]
Chr12:52309886 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.666C>T (p.His222=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360868]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001079089]|not provided [RCV000756969] |
Chr12:51914479 [GRCh38]
Chr12:52308263 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.264C>G (p.Tyr88Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003768272]|not provided [RCV000756970] |
Chr12:51913301 [GRCh38]
Chr12:52307085 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.-5-59C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002319] |
Chr12:51912411 [GRCh38]
Chr12:52306195 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NC_000012.11:g.(?_52306239)_(52314697_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000525264] |
Chr12:52306239..52314697 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1246+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002395380]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000525999] |
Chr12:51916235 [GRCh38]
Chr12:52310019 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.625+1del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000528230] |
Chr12:51914072 [GRCh38]
Chr12:52307856 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002321922]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001083626]|not provided [RCV000756963]|not specified [RCV000254095] |
Chr12:51916118 [GRCh38]
Chr12:52309902 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.772+27G>C |
single nucleotide variant |
not specified [RCV000241980] |
Chr12:51914612 [GRCh38]
Chr12:52308396 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1246+19C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000474238]|not specified [RCV000244463] |
Chr12:51916252 [GRCh38]
Chr12:52310036 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1246+9C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000456288]|not specified [RCV000249414] |
Chr12:51916242 [GRCh38]
Chr12:52310026 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.1377+45T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000999733]|not provided [RCV000833921]|not specified [RCV000254416] |
Chr12:51919160 [GRCh38]
Chr12:52312944 [GRCh37]
Chr12:12q13.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000020.3(ACVRL1):c.314-35A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000999924]|not provided [RCV001538910]|not specified [RCV000249741] |
Chr12:51913524 [GRCh38]
Chr12:52307308 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365254]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000617]|not specified [RCV000245058] |
Chr12:51914455 [GRCh38]
Chr12:52308239 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.713C>T (p.Ser238Phe) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000300092] |
Chr12:51914526 [GRCh38]
Chr12:52308310 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*560T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000283792] |
Chr12:51921453 [GRCh38]
Chr12:52315237 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.*1042C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000268898] |
Chr12:51921935 [GRCh38]
Chr12:52315719 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*2347A>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000397586] |
Chr12:51923240 [GRCh38]
Chr12:52317024 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*2380C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000304582] |
Chr12:51923273 [GRCh38]
Chr12:52317057 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.-52G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000506378]|not provided [RCV003221906] |
Chr12:51907649 [GRCh38]
Chr12:52301433 [GRCh37]
Chr12:12q13.13 |
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.*499T>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000380394] |
Chr12:51921392 [GRCh38]
Chr12:52315176 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*242A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000381811] |
Chr12:51921135 [GRCh38]
Chr12:52314919 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1839C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000403356] |
Chr12:51922732 [GRCh38]
Chr12:52316516 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*862G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000405047] |
Chr12:51921755 [GRCh38]
Chr12:52315539 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1926T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000292660] |
Chr12:51922819 [GRCh38]
Chr12:52316603 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1021T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000312927] |
Chr12:51921914 [GRCh38]
Chr12:52315698 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*935G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000314037] |
Chr12:51921828 [GRCh38]
Chr12:52315612 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*58G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000507582]|not provided [RCV001566407] |
Chr12:51920951 [GRCh38]
Chr12:52314735 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*869C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000282305] |
Chr12:51921762 [GRCh38]
Chr12:52315546 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1776C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000279734] |
Chr12:51922669 [GRCh38]
Chr12:52316453 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1493G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000320372] |
Chr12:51922386 [GRCh38]
Chr12:52316170 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*2422A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000264731] |
Chr12:51923315 [GRCh38]
Chr12:52317099 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1041G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000365887] |
Chr12:51921934 [GRCh38]
Chr12:52315718 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*423C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000323463] |
Chr12:51921316 [GRCh38]
Chr12:52315100 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418162]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000608064]|not provided [RCV000756971] |
Chr12:51913244 [GRCh38]
Chr12:52307028 [GRCh37]
Chr12:12q13.13 |
benign|likely benign|conflicting interpretations of pathogenicity |
| NM_000020.3(ACVRL1):c.*913C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000394581] |
Chr12:51921806 [GRCh38]
Chr12:52315590 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*200A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000272087] |
Chr12:51921093 [GRCh38]
Chr12:52314877 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*949C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000370963] |
Chr12:51921842 [GRCh38]
Chr12:52315626 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.518T>C (p.Met173Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002338888]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640441] |
Chr12:51913763 [GRCh38]
Chr12:52307547 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1042C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000326234] |
Chr12:51921935 [GRCh38]
Chr12:52315719 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1689G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000371882] |
Chr12:51922582 [GRCh38]
Chr12:52316366 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*2277A>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000397615]|not provided [RCV002262966] |
Chr12:51923170 [GRCh38]
Chr12:52316954 [GRCh37]
Chr12:12q13.13 |
benign|likely benign|uncertain significance |
| NM_000020.3(ACVRL1):c.*1777G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000351109] |
Chr12:51922670 [GRCh38]
Chr12:52316454 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*992A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000400950] |
Chr12:51921885 [GRCh38]
Chr12:52315669 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*120G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000329601] |
Chr12:51921013 [GRCh38]
Chr12:52314797 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1560A>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000377196] |
Chr12:51922453 [GRCh38]
Chr12:52316237 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*2281G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000310420]|not provided [RCV002292519] |
Chr12:51923174 [GRCh38]
Chr12:52316958 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.593T>C (p.Val198Ala) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000796579]|not provided [RCV000289108] |
Chr12:51914041 [GRCh38]
Chr12:52307825 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1246T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000359982] |
Chr12:51922139 [GRCh38]
Chr12:52315923 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.*1351G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000267578] |
Chr12:51922244 [GRCh38]
Chr12:52316028 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*2398G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000361679] |
Chr12:51923291 [GRCh38]
Chr12:52317075 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.429C>T (p.Val143=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298371]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000339787] |
Chr12:51913674 [GRCh38]
Chr12:52307458 [GRCh37]
Chr12:12q13.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.*2313G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000362816] |
Chr12:51923206 [GRCh38]
Chr12:52316990 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*1630C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000280477] |
Chr12:51922523 [GRCh38]
Chr12:52316307 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.2(ACVRL1):c.-202C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000389171] |
Chr12:51907499 [GRCh38]
Chr12:52301283 [GRCh37]
Chr12:12q13.13 |
likely benign|uncertain significance |
| NM_000020.3(ACVRL1):c.1042G>A (p.Asp348Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV003311082] |
Chr12:51915494 [GRCh38]
Chr12:52309278 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.295_299del (p.Val99fs) |
deletion |
not provided [RCV000489351] |
Chr12:51913331..51913335 [GRCh38]
Chr12:52307115..52307119 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.711_713delinsAG (p.Ser238fs) |
indel |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000548593] |
Chr12:51914524..51914526 [GRCh38]
Chr12:52308308..52308310 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1378-248del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000308]|not provided [RCV002245831] |
Chr12:51920506 [GRCh38]
Chr12:52314290 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.1378-115T>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000467] |
Chr12:51920644 [GRCh38]
Chr12:52314428 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445157]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000664]|not provided [RCV002249610] |
Chr12:51915369 [GRCh38]
Chr12:52309153 [GRCh37]
Chr12:12q13.13 |
benign|uncertain significance |
| NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488470] |
Chr12:51916183 [GRCh38]
Chr12:52309967 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.536A>C (p.Asp179Ala) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488472]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000527139] |
Chr12:51913984 [GRCh38]
Chr12:52307768 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely benign |
| NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp) |
single nucleotide variant |
ACVRL1-related disorder [RCV004551616]|Abnormality of the pulmonary vasculature [RCV002287412]|Cardiovascular phenotype [RCV002420248]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488479]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001050243]|not provided [RCV002244957] |
Chr12:51913236 [GRCh38]
Chr12:52307020 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1390del (p.Gly463_Leu464insTer) |
deletion |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488490] |
Chr12:51920770 [GRCh38]
Chr12:52314554 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488495]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000814063]|not provided [RCV001755727] |
Chr12:51919062 [GRCh38]
Chr12:52312846 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1436G>A (p.Arg479Gln) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395185]|Pulmonary hypertension, primary, 1 [RCV000488513]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000546029]|not provided [RCV003480651] |
Chr12:51920817 [GRCh38]
Chr12:52314601 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.950T>C (p.Ile317Thr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488516]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001865506]|not provided [RCV001507808] |
Chr12:51915402 [GRCh38]
Chr12:52309186 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413346]|Pulmonary hypertension, primary, 1 [RCV000488544]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001388094] |
Chr12:51915305 [GRCh38]
Chr12:52309089 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.653_654inv (p.Arg218Pro) |
inversion |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488551] |
Chr12:51914466..51914467 [GRCh38]
Chr12:52308250..52308251 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488579]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002272257] |
Chr12:51920841 [GRCh38]
Chr12:52314625 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1142T>C (p.Leu381Pro) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488581]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001851300] |
Chr12:51916129 [GRCh38]
Chr12:52309913 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1433C>A (p.Ala478Asp) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488621] |
Chr12:51920814 [GRCh38]
Chr12:52314598 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488626] |
Chr12:51915240 [GRCh38]
Chr12:52309024 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.293A>G (p.Asn98Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002438191]|Pulmonary hypertension, primary, 1 [RCV000488635]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000795036] |
Chr12:51913330 [GRCh38]
Chr12:52307114 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395184]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488647]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002527017]|not provided [RCV000756968] |
Chr12:51920766 [GRCh38]
Chr12:52314550 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1270C>A (p.Pro424Thr) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488652]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000810385] |
Chr12:51919008 [GRCh38]
Chr12:52312792 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488655] |
Chr12:51914041 [GRCh38]
Chr12:52307825 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.854T>C (p.Leu285Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002413347]|Pulmonary hypertension, primary, 1 [RCV000488673] |
Chr12:51915306 [GRCh38]
Chr12:52309090 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1450delinsTG (p.Arg484fs) |
indel |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488689] |
Chr12:51920831 [GRCh38]
Chr12:52314615 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1436G>C (p.Arg479Pro) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488694]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001241423] |
Chr12:51920817 [GRCh38]
Chr12:52314601 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.955G>C (p.Gly319Arg) |
single nucleotide variant |
Pulmonary hypertension, primary, 1 [RCV000488697]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640435]|not provided [RCV000756962] |
Chr12:51915407 [GRCh38]
Chr12:52309191 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395186]|Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488710]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262033]|not provided [RCV003480652] |
Chr12:51920849 [GRCh38]
Chr12:52314633 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.37del (p.Leu13fs) |
deletion |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488723] |
Chr12:51912511 [GRCh38]
Chr12:52306295 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488738] |
Chr12:51919018 [GRCh38]
Chr12:52312802 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg) |
single nucleotide variant |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488764]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002496883] |
Chr12:51916182 [GRCh38]
Chr12:52309966 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1388del (p.Gly463fs) |
deletion |
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia [RCV000488779] |
Chr12:51920768 [GRCh38]
Chr12:52314552 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431425]|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] |
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 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 |
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 |
Cardiovascular phenotype [RCV002402291]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000457633]|not provided [RCV002523350] |
Chr12:51916035 [GRCh38]
Chr12:52309819 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.525+1del |
deletion |
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 |
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 |
Cardiovascular phenotype [RCV002376938]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000808864] |
Chr12:51915366 [GRCh38]
Chr12:52309150 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1378-30T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000507620]|not provided [RCV001613326] |
Chr12:51920729 [GRCh38]
Chr12:52314513 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1270C>T (p.Pro424Ser) |
single nucleotide variant |
not specified [RCV000507657] |
Chr12:51919008 [GRCh38]
Chr12:52312792 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.743_744del (p.Thr248fs) |
microsatellite |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001205745]|not specified [RCV000507968] |
Chr12:51914553..51914554 [GRCh38]
Chr12:52308337..52308338 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33 |
pathogenic |
| NM_000020.3(ACVRL1):c.598C>T (p.Arg200Trp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001865538]|not provided [RCV000493276] |
Chr12:51914046 [GRCh38]
Chr12:52307830 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.525+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002341193]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001387731]|not specified [RCV000508061] |
Chr12:51913771 [GRCh38]
Chr12:52307555 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.625+164T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000508151]|not provided [RCV001637053] |
Chr12:51914237 [GRCh38]
Chr12:52308021 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.262T>G (p.Tyr88Asp) |
single nucleotide variant |
Lip telangiectasia [RCV000626567] |
Chr12:51913299 [GRCh38]
Chr12:52307083 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.641del (p.Gly214fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000540514]|not provided [RCV003480674] |
Chr12:51914453 [GRCh38]
Chr12:52308237 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.329C>T (p.Ser110Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002323970]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002060319] |
Chr12:51913574 [GRCh38]
Chr12:52307358 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.925G>A (p.Gly309Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640443] |
Chr12:51915377 [GRCh38]
Chr12:52309161 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640447]|not provided [RCV001816595] |
Chr12:51913243 [GRCh38]
Chr12:52307027 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385943]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640451]|not specified [RCV000612336] |
Chr12:51915445 [GRCh38]
Chr12:52309229 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.1250_1269del (p.Ile417fs) |
deletion |
Cardiovascular phenotype [RCV002413524]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000538435] |
Chr12:51918986..51919005 [GRCh38]
Chr12:52312770..52312789 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.526-7C>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002343273]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640436] |
Chr12:51913967 [GRCh38]
Chr12:52307751 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1121G>C (p.Arg374Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640445] |
Chr12:51916108 [GRCh38]
Chr12:52309892 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs) |
insertion |
Cardiovascular phenotype [RCV002350270]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000535409]|not provided [RCV001821542] |
Chr12:51913988..51913989 [GRCh38]
Chr12:52307772..52307773 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.100dup (p.Cys34fs) |
duplication |
Cardiovascular phenotype [RCV002438237]|Telangiectasia, hereditary hemorrhagic, type 1 [RCV000512648] |
Chr12:51913136..51913137 [GRCh38]
Chr12:52306920..52306921 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.808_820dup (p.Trp274Ter) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640432] |
Chr12:51915259..51915260 [GRCh38]
Chr12:52309043..52309044 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.137G>C (p.Cys46Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV003303025]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640437] |
Chr12:51913174 [GRCh38]
Chr12:52306958 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.851C>T (p.Ser284Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002449006]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640439]|not provided [RCV001756065] |
Chr12:51915303 [GRCh38]
Chr12:52309087 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance|no classifications from unflagged records |
| NM_000020.3(ACVRL1):c.1147G>T (p.Glu383Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640440] |
Chr12:51916134 [GRCh38]
Chr12:52309918 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.236G>A (p.Gly79Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002458052]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV000640444]|not provided [RCV003325504] |
Chr12:51913273 [GRCh38]
Chr12:52307057 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance|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] |
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] |
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] |
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] |
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, type 2 [RCV001040491] |
Chr12:51913270 [GRCh38]
Chr12:52307054 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.598C>G (p.Arg200Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001198970] |
Chr12:51914046 [GRCh38]
Chr12:52307830 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.615G>A (p.Val205=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001061506] |
Chr12:51914063 [GRCh38]
Chr12:52307847 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.206G>A (p.Cys69Tyr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001203641] |
Chr12:51913243 [GRCh38]
Chr12:52307027 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1231_1246+4dup |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001066276] |
Chr12:51916217..51916218 [GRCh38]
Chr12:52310001..52310002 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.*871C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113230] |
Chr12:51921764 [GRCh38]
Chr12:52315548 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.858C>A (p.Tyr286Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001203796] |
Chr12:51915310 [GRCh38]
Chr12:52309094 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1419C>A (p.Tyr473Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001208358] |
Chr12:51920800 [GRCh38]
Chr12:52314584 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.231C>G (p.Cys77Trp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001224004] |
Chr12:51913268 [GRCh38]
Chr12:52307052 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.724G>T (p.Glu242Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001227831] |
Chr12:51914537 [GRCh38]
Chr12:52308321 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.847_853delinsTT (p.Gly283fs) |
indel |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001243907]|not provided [RCV003223711] |
Chr12:51915299..51915305 [GRCh38]
Chr12:52309083..52309089 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.631G>T (p.Gly211Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001224773] |
Chr12:51914444 [GRCh38]
Chr12:52308228 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1465C>A (p.Leu489Ile) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001225097] |
Chr12:51920846 [GRCh38]
Chr12:52314630 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NC_000012.12:g.(?_51913089)_(51916243_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001032466] |
Chr12:52306873..52310027 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.979G>C (p.Ala327Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001225623]|not provided [RCV001751437] |
Chr12:51915431 [GRCh38]
Chr12:52309215 [GRCh37]
Chr12:12q13.13 |
conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.1323G>A (p.Val441=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV000934877] |
Chr12:51919061 [GRCh38]
Chr12:52312845 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.927_928delinsAT (p.Gly309_Leu310=) |
indel |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001401063] |
Chr12:51915379..51915380 [GRCh38]
Chr12:52309163..52309164 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1041C>G (p.Ala347=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001436781] |
Chr12:51915493 [GRCh38]
Chr12:52309277 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1377+249TG[18] |
microsatellite |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001803390]|not provided [RCV001720828] |
Chr12:51919364..51919367 [GRCh38]
Chr12:52313148..52313151 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1247-230T>C |
single nucleotide variant |
not provided [RCV001547892] |
Chr12:51918755 [GRCh38]
Chr12:52312539 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.82C>T (p.Arg28Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002427444]|not provided [RCV000994925] |
Chr12:51913119 [GRCh38]
Chr12:52306903 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.191A>C (p.Gln64Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410659] |
Chr12:51913228 [GRCh38]
Chr12:52307012 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1247-195C>T |
single nucleotide variant |
not provided [RCV001561294] |
Chr12:51918790 [GRCh38]
Chr12:52312574 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1377+249TG[23] |
microsatellite |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001810105]|not provided [RCV001590900] |
Chr12:51919363..51919364 [GRCh38]
Chr12:52313147..52313148 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.*2034G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111324] |
Chr12:51922927 [GRCh38]
Chr12:52316711 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*2252G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111326] |
Chr12:51923145 [GRCh38]
Chr12:52316929 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1030_1048+18del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001037493] |
Chr12:51915478..51915514 [GRCh38]
Chr12:52309262..52309298 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.714del (p.Trp239fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001043944] |
Chr12:51914526 [GRCh38]
Chr12:52308310 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1377+636C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001002351] |
Chr12:51919751 [GRCh38]
Chr12:52313535 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.526-11C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113124] |
Chr12:51913963 [GRCh38]
Chr12:52307747 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.722G>A (p.Arg241Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113126] |
Chr12:51914535 [GRCh38]
Chr12:52308319 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.122G>A (p.Cys41Tyr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001065552] |
Chr12:51913159 [GRCh38]
Chr12:52306943 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1377+4A>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001287259] |
Chr12:51919119 [GRCh38]
Chr12:52312903 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1246G>A (p.Gly416Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391069]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001000141]|not provided [RCV001843955] |
Chr12:51916233 [GRCh38]
Chr12:52310017 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.647T>G (p.Val216Gly) |
single nucleotide variant |
Pulmonary arterial hypertension [RCV001003752] |
Chr12:51914460 [GRCh38]
Chr12:52308244 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1451G>T (p.Arg484Leu) |
single nucleotide variant |
Pulmonary arterial hypertension [RCV001003758]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001060097] |
Chr12:51920832 [GRCh38]
Chr12:52314616 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.-168G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001110385] |
Chr12:51907533 [GRCh38]
Chr12:52301317 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*132G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001110467] |
Chr12:51921025 [GRCh38]
Chr12:52314809 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.270C>T (p.Cys90=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004032159]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111121] |
Chr12:51913307 [GRCh38]
Chr12:52307091 [GRCh37]
Chr12:12q13.13 |
likely benign|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.431G>A (p.Arg144Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111122] |
Chr12:51913676 [GRCh38]
Chr12:52307460 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*592G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111222] |
Chr12:51921485 [GRCh38]
Chr12:52315269 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*823C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001111224] |
Chr12:51921716 [GRCh38]
Chr12:52315500 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1197G>A (p.Trp399Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040640] |
Chr12:51916184 [GRCh38]
Chr12:52309968 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.686A>T (p.Lys229Met) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001040884] |
Chr12:51914499 [GRCh38]
Chr12:52308283 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.982C>T (p.His328Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374913]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001052514] |
Chr12:51915434 [GRCh38]
Chr12:52309218 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.5C>T (p.Thr2Ile) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001054999] |
Chr12:51912479 [GRCh38]
Chr12:52306263 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1165_1179del (p.Cys389_Tyr393del) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001058436] |
Chr12:51916150..51916164 [GRCh38]
Chr12:52309934..52309948 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1277A>G (p.Tyr426Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374963]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001063960] |
Chr12:51919015 [GRCh38]
Chr12:52312799 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.940C>A (p.His314Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001064308] |
Chr12:51915392 [GRCh38]
Chr12:52309176 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.196C>T (p.His66Tyr) |
single nucleotide variant |
not provided [RCV001581037] |
Chr12:51913233 [GRCh38]
Chr12:52307017 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.772+132TTTAA[11] |
microsatellite |
not provided [RCV001643823] |
Chr12:51914716..51914717 [GRCh38]
Chr12:52308500..52308501 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1377+249TG[21] |
microsatellite |
not provided [RCV001666590] |
Chr12:51919363..51919364 [GRCh38]
Chr12:52313147..52313148 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1271C>G (p.Pro424Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372753]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001037203] |
Chr12:51919009 [GRCh38]
Chr12:52312793 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.982C>G (p.His328Asp) |
single nucleotide variant |
Pulmonary arterial hypertension [RCV001003753]|not provided [RCV001759682] |
Chr12:51915434 [GRCh38]
Chr12:52309218 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.129dup (p.Pro44fs) |
duplication |
Cardiovascular phenotype [RCV002379903]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001236580] |
Chr12:51913162..51913163 [GRCh38]
Chr12:52306946..52306947 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.916G>C (p.Ala306Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001043578] |
Chr12:51915368 [GRCh38]
Chr12:52309152 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.207C>A (p.Cys69Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002418696]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001207474] |
Chr12:51913244 [GRCh38]
Chr12:52307028 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1120C>G (p.Arg374Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001217789] |
Chr12:51916107 [GRCh38]
Chr12:52309891 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.626-9G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001063782] |
Chr12:51914430 [GRCh38]
Chr12:52308214 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002365802]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001113125] |
Chr12:51914494 [GRCh38]
Chr12:52308278 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.334C>T (p.Gln112Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320218]|Pulmonary arterial hypertension [RCV001003751] |
Chr12:51913579 [GRCh38]
Chr12:52307363 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.*1107G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114589] |
Chr12:51922000 [GRCh38]
Chr12:52315784 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1369C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114590] |
Chr12:51922262 [GRCh38]
Chr12:52316046 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.625G>A (p.Gly209Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002356882]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001205846] |
Chr12:51914073 [GRCh38]
Chr12:52307857 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1427C>G (p.Pro476Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001035910] |
Chr12:51920808 [GRCh38]
Chr12:52314592 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.1064A>C (p.His355Pro) |
single nucleotide variant |
ACVRL1-related disorder [RCV004553579]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001044961] |
Chr12:51916051 [GRCh38]
Chr12:52309835 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1189G>A (p.Asp397Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002339285]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001056963] |
Chr12:51916176 [GRCh38]
Chr12:52309960 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1427C>T (p.Pro476Leu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001059934] |
Chr12:51920808 [GRCh38]
Chr12:52314592 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1015A>T (p.Lys339Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001064025] |
Chr12:51915467 [GRCh38]
Chr12:52309251 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1163A>G (p.Asp388Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001114504] |
Chr12:51916150 [GRCh38]
Chr12:52309934 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1459A>G (p.Lys487Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001205003] |
Chr12:51920840 [GRCh38]
Chr12:52314624 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1560A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001108966] |
Chr12:51922453 [GRCh38]
Chr12:52316237 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.*1676T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001108968] |
Chr12:51922569 [GRCh38]
Chr12:52316353 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.352C>T (p.Gln118Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001196394] |
Chr12:51913597 [GRCh38]
Chr12:52307381 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NC_000012.12:g.(?_51912465)_(51912545_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001031098] |
Chr12:52306249..52306329 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.772+1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002400218]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001036645]|not provided [RCV003480911] |
Chr12:51914586 [GRCh38]
Chr12:52308370 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1133C>G (p.Pro378Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001039935] |
Chr12:51916120 [GRCh38]
Chr12:52309904 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1448del (p.Leu483fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262030] |
Chr12:51920829 [GRCh38]
Chr12:52314613 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1459A>C (p.Lys487Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262032] |
Chr12:51920840 [GRCh38]
Chr12:52314624 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.375dup (p.Val126fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262079] |
Chr12:51913616..51913617 [GRCh38]
Chr12:52307400..52307401 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1171G>T (p.Glu391Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262026] |
Chr12:51916158 [GRCh38]
Chr12:52309942 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1472A>G (p.Lys491Arg) |
single nucleotide variant |
not provided [RCV001310656] |
Chr12:51920853 [GRCh38]
Chr12:52314637 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.400G>A (p.Ala134Thr) |
single nucleotide variant |
not provided [RCV001310654] |
Chr12:51913645 [GRCh38]
Chr12:52307429 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1247G>C (p.Gly416Ala) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001334154] |
Chr12:51918985 [GRCh38]
Chr12:52312769 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1041del (p.Asp348fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262024] |
Chr12:51915492 [GRCh38]
Chr12:52309276 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1298C>A (p.Pro433His) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262028] |
Chr12:51919036 [GRCh38]
Chr12:52312820 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.139dup (p.Arg47fs) |
duplication |
Cardiovascular phenotype [RCV002393672]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262029] |
Chr12:51913174..51913175 [GRCh38]
Chr12:52306958..52306959 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.475G>T (p.Glu159Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262080] |
Chr12:51913720 [GRCh38]
Chr12:52307504 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.626-2A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262081] |
Chr12:51914437 [GRCh38]
Chr12:52308221 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.830C>G (p.Thr277Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262082] |
Chr12:51915282 [GRCh38]
Chr12:52309066 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000020.3(ACVRL1):c.948G>C (p.Glu316Asp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262085] |
Chr12:51915400 [GRCh38]
Chr12:52309184 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|likely benign|conflicting interpretations of pathogenicity |
| NM_000020.3(ACVRL1):c.1037_1039del (p.Ile346_Ala347delinsThr) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262023] |
Chr12:51915489..51915491 [GRCh38]
Chr12:52309273..52309275 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|conflicting interpretations of pathogenicity |
| NM_000020.3(ACVRL1):c.1457AGA[1] (p.Lys487del) |
microsatellite |
Cardiovascular phenotype [RCV002393673]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262031]|not provided [RCV003236885] |
Chr12:51920837..51920839 [GRCh38]
Chr12:52314621..52314623 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.259del (p.His87fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262034] |
Chr12:51913295 [GRCh38]
Chr12:52307079 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.-5-465A>G |
single nucleotide variant |
not provided [RCV001527932] |
Chr12:51912005 [GRCh38]
Chr12:52305789 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1153A>C (p.Ile385Leu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262025] |
Chr12:51916140 [GRCh38]
Chr12:52309924 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1246+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002393671]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262027] |
Chr12:51916238 [GRCh38]
Chr12:52310022 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance |
| NM_000020.3(ACVRL1):c.848G>T (p.Gly283Val) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262083] |
Chr12:51915300 [GRCh38]
Chr12:52309084 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.916_917insTCA (p.Ala306delinsValThr) |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001262084] |
Chr12:51915368..51915369 [GRCh38]
Chr12:52309152..52309153 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1378-615_1378-614insGTTGATGAGCTTCCTGGGATGA |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285650] |
Chr12:51920144..51920145 [GRCh38]
Chr12:52313928..52313929 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.295_298dup (p.Ser100fs) |
microsatellite |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285903] |
Chr12:51913331..51913332 [GRCh38]
Chr12:52307115..52307116 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.737A>G (p.Tyr246Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001320257] |
Chr12:51914550 [GRCh38]
Chr12:52308334 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1048+3_1048+4delinsTT |
indel |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001351071] |
Chr12:51915503..51915504 [GRCh38]
Chr12:52309287..52309288 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1377G>A (p.Pro459=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384450]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001337840] |
Chr12:51919115 [GRCh38]
Chr12:52312899 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1282G>A (p.Val428Met) |
single nucleotide variant |
not provided [RCV001310655] |
Chr12:51919020 [GRCh38]
Chr12:52312804 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1411T>G (p.Cys471Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001313821] |
Chr12:51920792 [GRCh38]
Chr12:52314576 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.990C>T (p.Asp330=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001414393] |
Chr12:51915442 [GRCh38]
Chr12:52309226 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1378-417C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001289853] |
Chr12:51920342 [GRCh38]
Chr12:52314126 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.687G>C (p.Lys229Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001284954] |
Chr12:51914500 [GRCh38]
Chr12:52308284 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.121T>G (p.Cys41Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001382876] |
Chr12:51913158 [GRCh38]
Chr12:52306942 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1297C>T (p.Pro433Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002384546]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001383045] |
Chr12:51919035 [GRCh38]
Chr12:52312819 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.338C>T (p.Pro113Leu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001373499] |
Chr12:51913583 [GRCh38]
Chr12:52307367 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.251T>G (p.Phe84Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001320160] |
Chr12:51913288 [GRCh38]
Chr12:52307072 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1378-699C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285487] |
Chr12:51920060 [GRCh38]
Chr12:52313844 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1378-490_1378-489insTGA |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001285795] |
Chr12:51920269..51920270 [GRCh38]
Chr12:52314053..52314054 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1013T>G (p.Val338Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001342287] |
Chr12:51915465 [GRCh38]
Chr12:52309249 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.263A>G (p.Tyr88Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002456418]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001316742] |
Chr12:51913300 [GRCh38]
Chr12:52307084 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1405C>T (p.Arg469Trp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001295230] |
Chr12:51920786 [GRCh38]
Chr12:52314570 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.369G>A (p.Leu123=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001299375] |
Chr12:51913614 [GRCh38]
Chr12:52307398 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.314-49G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001287578] |
Chr12:51913510 [GRCh38]
Chr12:52307294 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.999C>G (p.Ser333Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001286743] |
Chr12:51915451 [GRCh38]
Chr12:52309235 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.199C>G (p.Arg67Gly) |
single nucleotide variant |
not provided [RCV001507802] |
Chr12:51913236 [GRCh38]
Chr12:52307020 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.525+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002343698]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001882548]|not provided [RCV001507804] |
Chr12:51913772 [GRCh38]
Chr12:52307556 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1509A>G (p.Gln503=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002395947]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001416755] |
Chr12:51920890 [GRCh38]
Chr12:52314674 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1405C>A (p.Arg469=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396073]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001457721] |
Chr12:51920786 [GRCh38]
Chr12:52314570 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.111G>A (p.Glu37=) |
single nucleotide variant |
ACVRL1-related disorder [RCV004550114]|Cardiovascular phenotype [RCV002438912]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001399213] |
Chr12:51913148 [GRCh38]
Chr12:52306932 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1325T>C (p.Val442Ala) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001378121] |
Chr12:51919063 [GRCh38]
Chr12:52312847 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1032T>C (p.Cys344=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003160746]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001436313] |
Chr12:51915484 [GRCh38]
Chr12:52309268 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NC_000012.11:g.52308281_52308282insAlu |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001385997]|not provided [RCV002551546] |
Chr12:52308281..52308282 [GRCh37]
Chr12:12q13.13 |
pathogenic|no classifications from unflagged records |
| NM_000020.3(ACVRL1):c.1010del (p.Leu337fs) |
deletion |
Cardiovascular phenotype [RCV002322371]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001388095] |
Chr12:51915462 [GRCh38]
Chr12:52309246 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1069C>T (p.Gln357Ter) |
single nucleotide variant |
ACVRL1-related disorder [RCV004550099]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001388096] |
Chr12:51916056 [GRCh38]
Chr12:52309840 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1048+55_1048+58del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001400950] |
Chr12:51915554..51915557 [GRCh38]
Chr12:52309338..52309341 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.871A>T (p.Arg291Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002377578]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001388840] |
Chr12:51915323 [GRCh38]
Chr12:52309107 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.78_81del (p.Ser27fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001385203] |
Chr12:51913115..51913118 [GRCh38]
Chr12:52306899..52306902 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.106T>C (p.Cys36Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001378120] |
Chr12:51913143 [GRCh38]
Chr12:52306927 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.329C>A (p.Ser110Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001385923] |
Chr12:51913574 [GRCh38]
Chr12:52307358 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.525+1G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001390479] |
Chr12:51913771 [GRCh38]
Chr12:52307555 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.362_374del (p.Leu121fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001381552] |
Chr12:51913602..51913614 [GRCh38]
Chr12:52307386..52307398 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NC_000012.11:g.(?_52297387)_52306941del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001380698] |
|
pathogenic |
| NM_000020.3(ACVRL1):c.115_116del (p.Pro39fs) |
deletion |
Cardiovascular phenotype [RCV002456602]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001385584] |
Chr12:51913151..51913152 [GRCh38]
Chr12:52306935..52306936 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1443C>T (p.Thr481=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001406407] |
Chr12:51920824 [GRCh38]
Chr12:52314608 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.863T>C (p.Phe288Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001377597] |
Chr12:51915315 [GRCh38]
Chr12:52309099 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.87C>T (p.Gly29=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003298935]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002570822]|not provided [RCV001579948] |
Chr12:51913124 [GRCh38]
Chr12:52306908 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.24A>G (p.Lys8=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001505327] |
Chr12:51912498 [GRCh38]
Chr12:52306282 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.526-10G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001468776] |
Chr12:51913964 [GRCh38]
Chr12:52307748 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1073del (p.Gly358fs) |
deletion |
not provided [RCV001508687] |
Chr12:51916058 [GRCh38]
Chr12:52309842 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.417C>A (p.Gly139=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001482223] |
Chr12:51913662 [GRCh38]
Chr12:52307446 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.772+24C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001515925]|not provided [RCV001556868] |
Chr12:51914609 [GRCh38]
Chr12:52308393 [GRCh37]
Chr12:12q13.13 |
benign|likely benign |
| NM_000020.3(ACVRL1):c.393C>T (p.Ala131=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001479987] |
Chr12:51913638 [GRCh38]
Chr12:52307422 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.772+132TTTAA[8] |
microsatellite |
not provided [RCV001673640] |
Chr12:51914717..51914721 [GRCh38]
Chr12:52308501..52308505 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1377+249TG[22] |
microsatellite |
not provided [RCV001679058] |
Chr12:51919363..51919364 [GRCh38]
Chr12:52313147..52313148 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.699G>A (p.Ser233=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002368513]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001495785] |
Chr12:51914512 [GRCh38]
Chr12:52308296 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.412_413del (p.Leu138fs) |
deletion |
Cardiovascular phenotype [RCV002322366]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001386902] |
Chr12:51913657..51913658 [GRCh38]
Chr12:52307441..52307442 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.462C>T (p.His154=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001488138] |
Chr12:51913707 [GRCh38]
Chr12:52307491 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1041C>T (p.Ala347=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396158]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001486051] |
Chr12:51915493 [GRCh38]
Chr12:52309277 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.807G>A (p.Ser269=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001453003] |
Chr12:51915259 [GRCh38]
Chr12:52309043 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.525+10T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001500682] |
Chr12:51913780 [GRCh38]
Chr12:52307564 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.131_132insCACA (p.Cys46fs) |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001387356] |
Chr12:51913168..51913169 [GRCh38]
Chr12:52306952..52306953 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.579G>T (p.Leu193=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001404575] |
Chr12:51914027 [GRCh38]
Chr12:52307811 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1173G>A (p.Glu391=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002329607]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001495215] |
Chr12:51916160 [GRCh38]
Chr12:52309944 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.798C>A (p.Ser266=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002421063]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001468364] |
Chr12:51915250 [GRCh38]
Chr12:52309034 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.259C>G (p.His87Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002425040]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509684]|not provided [RCV001756530] |
Chr12:51913296 [GRCh38]
Chr12:52307080 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1003A>C (p.Asn335His) |
single nucleotide variant |
not provided [RCV001756532] |
Chr12:51915455 [GRCh38]
Chr12:52309239 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1198G>C (p.Ala400Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001729985] |
Chr12:51916185 [GRCh38]
Chr12:52309969 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.286A>G (p.Asn96Asp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002272651] |
Chr12:51913323 [GRCh38]
Chr12:52307107 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.983A>C (p.His328Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509692]|not provided [RCV003237599] |
Chr12:51915435 [GRCh38]
Chr12:52309219 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.205T>C (p.Cys69Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002422861]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001801300] |
Chr12:51913242 [GRCh38]
Chr12:52307026 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.994A>G (p.Lys332Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001801301] |
Chr12:51915446 [GRCh38]
Chr12:52309230 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.225G>C (p.Glu75Asp) |
single nucleotide variant |
not provided [RCV001773414] |
Chr12:51913262 [GRCh38]
Chr12:52307046 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.510del (p.Asp171fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001783170] |
Chr12:51913755 [GRCh38]
Chr12:52307539 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.505C>T (p.Gln169Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001783174] |
Chr12:51913750 [GRCh38]
Chr12:52307534 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.68del (p.Pro23fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001801299] |
Chr12:51913103 [GRCh38]
Chr12:52306887 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.868C>T (p.Gln290Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001801302] |
Chr12:51915320 [GRCh38]
Chr12:52309104 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001807857] |
Chr12:51920143..51920144 [GRCh38]
Chr12:52313927..52313928 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1378-368T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001802746] |
Chr12:51920391 [GRCh38]
Chr12:52314175 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1432G>C (p.Ala478Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001802409] |
Chr12:51920813 [GRCh38]
Chr12:52314597 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1111G>T (p.Gly371Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001802443] |
Chr12:51916098 [GRCh38]
Chr12:52309882 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1377+785G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001802548] |
Chr12:51919900 [GRCh38]
Chr12:52313684 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.961C>T (p.Gln321Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001803664] |
Chr12:51915413 [GRCh38]
Chr12:52309197 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.812C>A (p.Thr271Lys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001967719] |
Chr12:51915264 [GRCh38]
Chr12:52309048 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1347del (p.Thr450fs) |
deletion |
Cardiovascular phenotype [RCV002386637]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001874813] |
Chr12:51919081 [GRCh38]
Chr12:52312865 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.698C>G (p.Ser233Trp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001970082] |
Chr12:51914511 [GRCh38]
Chr12:52308295 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.130_143del (p.Pro44fs) |
deletion |
Cardiovascular phenotype [RCV002386613]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001894431] |
Chr12:51913163..51913176 [GRCh38]
Chr12:52306947..52306960 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.980C>A (p.Ala327Asp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001965253] |
Chr12:51915432 [GRCh38]
Chr12:52309216 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1252G>A (p.Val418Met) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001874609] |
Chr12:51918990 [GRCh38]
Chr12:52312774 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.931dup (p.Ala311fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001982961] |
Chr12:51915381..51915382 [GRCh38]
Chr12:52309165..52309166 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1334_1345del (p.Asp445_Pro449delinsAla) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002041994] |
Chr12:51919072..51919083 [GRCh38]
Chr12:52312856..52312867 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1451G>C (p.Arg484Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002389032]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002022873] |
Chr12:51920832 [GRCh38]
Chr12:52314616 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.139C>T (p.Arg47Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV003355554]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002545190]|not provided [RCV001823409] |
Chr12:51913176 [GRCh38]
Chr12:52306960 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NC_000012.11:g.(?_52314523)_(52314677_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001891633] |
Chr12:52314523..52314677 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.667G>A (p.Gly223Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001967311] |
Chr12:51914480 [GRCh38]
Chr12:52308264 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.931G>C (p.Ala311Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002370541]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001926754] |
Chr12:51915383 [GRCh38]
Chr12:52309167 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.50dup (p.Leu17fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001949443] |
Chr12:51912522..51912523 [GRCh38]
Chr12:52306306..52306307 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.377dup (p.Leu127fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001970208] |
Chr12:51913621..51913622 [GRCh38]
Chr12:52307405..52307406 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.151T>G (p.Cys51Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002388756]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001895308] |
Chr12:51913188 [GRCh38]
Chr12:52306972 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1004A>G (p.Asn335Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002005117] |
Chr12:51915456 [GRCh38]
Chr12:52309240 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.881T>G (p.Leu294Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002002987] |
Chr12:51915333 [GRCh38]
Chr12:52309117 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1195T>G (p.Trp399Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002334821]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001911102] |
Chr12:51916182 [GRCh38]
Chr12:52309966 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1095C>T (p.Gly365=) |
single nucleotide variant |
not specified [RCV001823815] |
Chr12:51916082 [GRCh38]
Chr12:52309866 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.907G>C (p.Ala303Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001870833]|not provided [RCV002261401] |
Chr12:51915359 [GRCh38]
Chr12:52309143 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.698_699dup (p.Asp235fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001893526] |
Chr12:51914510..51914511 [GRCh38]
Chr12:52308294..52308295 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1355_1356insGG (p.Asn453fs) |
insertion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002007425] |
Chr12:51919093..51919094 [GRCh38]
Chr12:52312877..52312878 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1049-1G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002006986] |
Chr12:51916035 [GRCh38]
Chr12:52309819 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.546C>A (p.Cys182Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343877]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001869864]|not provided [RCV001843985] |
Chr12:51913994 [GRCh38]
Chr12:52307778 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.124_138del (p.Lys42_Cys46del) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001883630] |
Chr12:51913158..51913172 [GRCh38]
Chr12:52306942..52306956 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1339C>T (p.Gln447Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001942294] |
Chr12:51919077 [GRCh38]
Chr12:52312861 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.643G>A (p.Glu215Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361130]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001944731]|not provided [RCV003442929] |
Chr12:51914456 [GRCh38]
Chr12:52308240 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.787G>A (p.Asp263Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001925620] |
Chr12:51915239 [GRCh38]
Chr12:52309023 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1360C>T (p.Arg454Trp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002030215]|not provided [RCV003312014] |
Chr12:51919098 [GRCh38]
Chr12:52312882 [GRCh37]
Chr12:12q13.13 |
likely benign|uncertain significance |
| NM_000020.3(ACVRL1):c.313+1G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001956524] |
Chr12:51913351 [GRCh38]
Chr12:52307135 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.807_810del (p.Ser270fs) |
deletion |
Cardiovascular phenotype [RCV002423133]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002000045] |
Chr12:51915258..51915261 [GRCh38]
Chr12:52309042..52309045 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1032T>A (p.Cys344Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002000062] |
Chr12:51915484 [GRCh38]
Chr12:52309268 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.663G>A (p.Trp221Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV003170168]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002000185] |
Chr12:51914476 [GRCh38]
Chr12:52308260 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.193G>T (p.Glu65Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002407179]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001942177] |
Chr12:51913230 [GRCh38]
Chr12:52307014 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1315AAG[1] (p.Lys440del) |
microsatellite |
Cardiovascular phenotype [RCV002386810]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001997263] |
Chr12:51919052..51919054 [GRCh38]
Chr12:52312836..52312838 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.500_518del (p.Ser167fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001951005] |
Chr12:51913740..51913758 [GRCh38]
Chr12:52307524..52307542 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1378-2A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001951370] |
Chr12:51920757 [GRCh38]
Chr12:52314541 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1215del (p.Trp406fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001975184] |
Chr12:51916202 [GRCh38]
Chr12:52309986 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.997A>T (p.Ser333Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002034974] |
Chr12:51915449 [GRCh38]
Chr12:52309233 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.626-1G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001998895] |
Chr12:51914438 [GRCh38]
Chr12:52308222 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.148T>G (p.Trp50Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002017836] |
Chr12:51913185 [GRCh38]
Chr12:52306969 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.758A>G (p.His253Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002018452] |
Chr12:51914571 [GRCh38]
Chr12:52308355 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.223del (p.Glu75fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001901303] |
Chr12:51913258 [GRCh38]
Chr12:52307042 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1124A>T (p.Tyr375Phe) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002012560] |
Chr12:51916111 [GRCh38]
Chr12:52309895 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NC_000012.11:g.(?_52306259)_(52307877_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001953890] |
Chr12:52306259..52307877 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.142G>A (p.Gly48Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001897578] |
Chr12:51913179 [GRCh38]
Chr12:52306963 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.193del (p.Glu65fs) |
deletion |
Cardiovascular phenotype [RCV002407052]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001918246] |
Chr12:51913229 [GRCh38]
Chr12:52307013 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.150G>C (p.Trp50Cys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001959004] |
Chr12:51913187 [GRCh38]
Chr12:52306971 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1381dup (p.Leu461fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001958808] |
Chr12:51920760..51920761 [GRCh38]
Chr12:52314544..52314545 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1346C>T (p.Pro449Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386900]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002017990]|not provided [RCV002509744] |
Chr12:51919084 [GRCh38]
Chr12:52312868 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|no classifications from unflagged records |
| NM_000020.3(ACVRL1):c.1419C>G (p.Tyr473Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001905934] |
Chr12:51920800 [GRCh38]
Chr12:52314584 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1218G>T (p.Trp406Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361341]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002019117] |
Chr12:51916205 [GRCh38]
Chr12:52309989 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1270C>G (p.Pro424Ala) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001877326] |
Chr12:51919008 [GRCh38]
Chr12:52312792 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.625+5G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001879038] |
Chr12:51914078 [GRCh38]
Chr12:52307862 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1247-1G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002031719] |
Chr12:51918984 [GRCh38]
Chr12:52312768 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.646_657dup (p.Val216_Gly219dup) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001994440] |
Chr12:51914458..51914459 [GRCh38]
Chr12:52308242..52308243 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1199C>A (p.Ala400Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343930]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001876849] |
Chr12:51916186 [GRCh38]
Chr12:52309970 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NC_000012.11:g.(?_52306863)_(52310037_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV001975127] |
Chr12:52306863..52310037 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.375del (p.Val126fs) |
deletion |
Cardiovascular phenotype [RCV002343919]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV001902282] |
Chr12:51913617 [GRCh38]
Chr12:52307401 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1450C>A (p.Arg484=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002109971] |
Chr12:51920831 [GRCh38]
Chr12:52314615 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.120T>C (p.His40=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002190642] |
Chr12:51913157 [GRCh38]
Chr12:52306941 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.846C>T (p.His282=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002091127] |
Chr12:51915298 [GRCh38]
Chr12:52309082 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.770T>C (p.Leu257Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002225196] |
Chr12:51914583 [GRCh38]
Chr12:52308367 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.549C>A (p.Thr183=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002084999] |
Chr12:51913997 [GRCh38]
Chr12:52307781 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.90G>A (p.Pro30=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003161400]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002211557] |
Chr12:51913127 [GRCh38]
Chr12:52306911 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.511G>A (p.Asp171Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002153084]|not provided [RCV003128847] |
Chr12:51913756 [GRCh38]
Chr12:52307540 [GRCh37]
Chr12:12q13.13 |
likely benign|uncertain significance |
| NM_000020.3(ACVRL1):c.660G>C (p.Leu220Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361486]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002088252] |
Chr12:51914473 [GRCh38]
Chr12:52308257 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.933G>A (p.Ala311=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002372896]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002094665]|not provided [RCV003883762] |
Chr12:51915385 [GRCh38]
Chr12:52309169 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.314-12C>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002116985] |
Chr12:51913547 [GRCh38]
Chr12:52307331 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1334_1335del (p.Asp445fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002074469] |
Chr12:51919072..51919073 [GRCh38]
Chr12:52312856..52312857 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1406G>A (p.Arg469Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002095696] |
Chr12:51920787 [GRCh38]
Chr12:52314571 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.372C>T (p.Gly124=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002096402] |
Chr12:51913617 [GRCh38]
Chr12:52307401 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.18C>G (p.Pro6=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004044998]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002157312] |
Chr12:51912492 [GRCh38]
Chr12:52306276 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.246C>T (p.Thr82=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002218527] |
Chr12:51913283 [GRCh38]
Chr12:52307067 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1056T>C (p.Ala352=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002218352] |
Chr12:51916043 [GRCh38]
Chr12:52309827 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1014C>T (p.Val338=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002203756] |
Chr12:51915466 [GRCh38]
Chr12:52309250 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1464A>G (p.Thr488=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002175597] |
Chr12:51920845 [GRCh38]
Chr12:52314629 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.813G>T (p.Thr271=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002103742] |
Chr12:51915265 [GRCh38]
Chr12:52309049 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.61+7A>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002204221] |
Chr12:51912542 [GRCh38]
Chr12:52306326 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.664C>T (p.His222Tyr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002136337] |
Chr12:51914477 [GRCh38]
Chr12:52308261 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1110G>A (p.Val370=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003110225] |
Chr12:51916097 [GRCh38]
Chr12:52309881 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NC_000012.11:g.(?_52309800)_(52310037_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003119088] |
Chr12:52309800..52310037 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NC_000012.11:g.(?_52306259)_(52310037_?)dup |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003119089] |
Chr12:52306259..52310037 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1377+248_1377+251dup |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002227308] |
Chr12:51919361..51919362 [GRCh38]
Chr12:52313145..52313146 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.880del (p.Leu294fs) |
deletion |
not provided [RCV002292858] |
Chr12:51915332 [GRCh38]
Chr12:52309116 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.995A>G (p.Lys332Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002266126] |
Chr12:51915447 [GRCh38]
Chr12:52309231 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.435del (p.Arg146fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002272804] |
Chr12:51913679 [GRCh38]
Chr12:52307463 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.954C>T (p.Phe318=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385172] |
Chr12:51915406 [GRCh38]
Chr12:52309190 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.361del (p.Ala120_Leu121insTer) |
deletion |
Cardiovascular phenotype [RCV002452284] |
Chr12:51913604 [GRCh38]
Chr12:52307388 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.74_77delinsGCTGCTGAGCTCAGGCGGTGCCAGGCCTGGGTCAGAATTGGAATTCTGCTGGGCAGGGAGTGGGCTGGAGACGGGCCAGGGCTAGGTTCTTCTTTCTGCAGGACCGGGGTGGAACGAGAGGCAGCTGGGGGTGGCCTGCCACTGGGTTTGGGTCTGGATTAAGTTAAACCTAAGG (p.Lys25_Pro26delinsSerCysTer) |
indel |
Cardiovascular phenotype [RCV002384885]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619779] |
Chr12:51913111..51913114 [GRCh38]
Chr12:52306895..52306898 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.374C>G (p.Pro125Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349290] |
Chr12:51913619 [GRCh38]
Chr12:52307403 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1012G>T (p.Val338Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002349378] |
Chr12:51915464 [GRCh38]
Chr12:52309248 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.299C>G (p.Ser100Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435582] |
Chr12:51913336 [GRCh38]
Chr12:52307120 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.71_93del (p.Val24fs) |
deletion |
Cardiovascular phenotype [RCV002367369] |
Chr12:51913105..51913127 [GRCh38]
Chr12:52306889..52306911 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.988G>A (p.Asp330Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002387406] |
Chr12:51915440 [GRCh38]
Chr12:52309224 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1119G>A (p.Lys373=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437705] |
Chr12:51916106 [GRCh38]
Chr12:52309890 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.957T>C (p.Gly319=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385236] |
Chr12:51915409 [GRCh38]
Chr12:52309193 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1192A>T (p.Ile398Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002351463] |
Chr12:51916179 [GRCh38]
Chr12:52309963 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.284G>A (p.Cys95Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435348] |
Chr12:51913321 [GRCh38]
Chr12:52307105 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.62-36_66delinsTGAAG |
indel |
Cardiovascular phenotype [RCV002366593] |
Chr12:51913063..51913103 [GRCh38]
Chr12:52306847..52306887 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.977T>C (p.Ile326Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002387174] |
Chr12:51915429 [GRCh38]
Chr12:52309213 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.133_148del (p.Thr45fs) |
deletion |
Cardiovascular phenotype [RCV002385910] |
Chr12:51913163..51913178 [GRCh38]
Chr12:52306947..52306962 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1111G>A (p.Gly371Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002453239] |
Chr12:51916098 [GRCh38]
Chr12:52309882 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1329T>A (p.Cys443Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002385872] |
Chr12:51919067 [GRCh38]
Chr12:52312851 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.287A>G (p.Asn96Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002437773] |
Chr12:51913324 [GRCh38]
Chr12:52307108 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.300C>G (p.Ser100=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435753] |
Chr12:51913337 [GRCh38]
Chr12:52307121 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1125C>A (p.Tyr375Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002435847] |
Chr12:51916112 [GRCh38]
Chr12:52309896 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1146C>T (p.Asp382=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002454883]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003099571] |
Chr12:51916133 [GRCh38]
Chr12:52309917 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.667G>C (p.Gly223Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002283957] |
Chr12:51914480 [GRCh38]
Chr12:52308264 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.967A>G (p.Lys323Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002386985]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509746] |
Chr12:51915419 [GRCh38]
Chr12:52309203 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.969A>G (p.Lys323=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002387005] |
Chr12:51915421 [GRCh38]
Chr12:52309205 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.501T>G (p.Ser167=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002351398] |
Chr12:51913746 [GRCh38]
Chr12:52307530 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.988_990delinsTGG (p.Asp330Trp) |
indel |
Cardiovascular phenotype [RCV002387392] |
Chr12:51915440..51915442 [GRCh38]
Chr12:52309224..52309226 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1135G>C (p.Glu379Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002466885] |
Chr12:51916122 [GRCh38]
Chr12:52309906 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1208T>C (p.Leu403Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347760] |
Chr12:51916195 [GRCh38]
Chr12:52309979 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.433del (p.Arg145fs) |
deletion |
Cardiovascular phenotype [RCV002332185] |
Chr12:51913678 [GRCh38]
Chr12:52307462 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.794_799del (p.Thr265_Arg267delinsSer) |
deletion |
Cardiovascular phenotype [RCV002416830] |
Chr12:51915246..51915251 [GRCh38]
Chr12:52309030..52309035 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.625+1G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV003164724]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002466779] |
Chr12:51914074 [GRCh38]
Chr12:52307858 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.1083C>A (p.Tyr361Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002417909] |
Chr12:51916070 [GRCh38]
Chr12:52309854 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.130_146delinsTGCACAGTAGTG (p.Pro44fs) |
indel |
Cardiovascular phenotype [RCV002380826] |
Chr12:51913167..51913183 [GRCh38]
Chr12:52306951..52306967 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.716G>A (p.Trp239Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378392]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003098487] |
Chr12:51914529 [GRCh38]
Chr12:52308313 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.501del (p.Glu168fs) |
deletion |
Cardiovascular phenotype [RCV002335554] |
Chr12:51913746 [GRCh38]
Chr12:52307530 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.625G>C (p.Gly209Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002353896] |
Chr12:51914073 [GRCh38]
Chr12:52307857 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.753C>G (p.Leu251=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002393921] |
Chr12:51914566 [GRCh38]
Chr12:52308350 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1052T>C (p.Leu351Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403973] |
Chr12:51916039 [GRCh38]
Chr12:52309823 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.772+5G>A |
single nucleotide variant |
Cardiovascular phenotype [RCV002400693]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619781] |
Chr12:51914590 [GRCh38]
Chr12:52308374 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.107G>A (p.Cys36Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002424385] |
Chr12:51913144 [GRCh38]
Chr12:52306928 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.128_132del (p.Gly43fs) |
deletion |
Cardiovascular phenotype [RCV002376523] |
Chr12:51913165..51913169 [GRCh38]
Chr12:52306949..52306953 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.158T>C (p.Val53Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398413]|not provided [RCV003481304] |
Chr12:51913195 [GRCh38]
Chr12:52306979 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.156AGT[1] (p.Val54del) |
microsatellite |
Cardiovascular phenotype [RCV002398415] |
Chr12:51913193..51913195 [GRCh38]
Chr12:52306977..52306979 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1037T>G (p.Ile346Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002305148] |
Chr12:51915489 [GRCh38]
Chr12:52309273 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1414T>C (p.Trp472Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391672] |
Chr12:51920795 [GRCh38]
Chr12:52314579 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1123_1161dup (p.Thr387_Asp388insTyrMetAlaProGluValLeuAspGluGlnIleArgThr) |
duplication |
Cardiovascular phenotype [RCV002442113] |
Chr12:51916108..51916109 [GRCh38]
Chr12:52309892..52309893 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1136A>C (p.Glu379Ala) |
single nucleotide variant |
Cardiovascular phenotype [RCV002445736] |
Chr12:51916123 [GRCh38]
Chr12:52309907 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.241C>T (p.Pro81Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450393] |
Chr12:51913278 [GRCh38]
Chr12:52307062 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.526-1G>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002341032] |
Chr12:51913973 [GRCh38]
Chr12:52307757 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.526-7C>G |
single nucleotide variant |
Cardiovascular phenotype [RCV002341050]|Hereditary hemorrhagic telangiectasia [RCV003994428]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003096673] |
Chr12:51913967 [GRCh38]
Chr12:52307751 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.353_360dup (p.Leu121fs) |
duplication |
Cardiovascular phenotype [RCV002459406]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509713] |
Chr12:51913592..51913593 [GRCh38]
Chr12:52307376..52307377 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1298C>T (p.Pro433Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380709] |
Chr12:51919036 [GRCh38]
Chr12:52312820 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.112A>T (p.Ser38Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320469] |
Chr12:51913149 [GRCh38]
Chr12:52306933 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1036A>T (p.Ile346Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394300]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003138245] |
Chr12:51915488 [GRCh38]
Chr12:52309272 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1438C>T (p.Leu480Phe) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394303]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509750] |
Chr12:51920819 [GRCh38]
Chr12:52314603 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1442C>T (p.Thr481Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394386]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619790] |
Chr12:51920823 [GRCh38]
Chr12:52314607 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.858_859insA (p.Asp287fs) |
insertion |
Cardiovascular phenotype [RCV002447904] |
Chr12:51915310..51915311 [GRCh38]
Chr12:52309094..52309095 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1273T>A (p.Phe425Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378916] |
Chr12:51919011 [GRCh38]
Chr12:52312795 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.767T>G (p.Ile256Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002400492] |
Chr12:51914580 [GRCh38]
Chr12:52308364 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.313_313+1del |
deletion |
Cardiovascular phenotype [RCV002320586] |
Chr12:51913349..51913350 [GRCh38]
Chr12:52307133..52307134 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.835_837dup (p.Tyr279_His280insTyr) |
duplication |
Cardiovascular phenotype [RCV002434716]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619785] |
Chr12:51915284..51915285 [GRCh38]
Chr12:52309068..52309069 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.1071G>A (p.Gln357=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002423523] |
Chr12:51916058 [GRCh38]
Chr12:52309842 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.65del (p.Asp22fs) |
deletion |
Cardiovascular phenotype [RCV002375830] |
Chr12:51913102 [GRCh38]
Chr12:52306886 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.900G>A (p.Leu300=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002376388] |
Chr12:51915352 [GRCh38]
Chr12:52309136 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1235C>A (p.Thr412Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378238] |
Chr12:51916222 [GRCh38]
Chr12:52310006 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1123T>A (p.Tyr375Asn) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442324] |
Chr12:51916110 [GRCh38]
Chr12:52309894 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1123T>C (p.Tyr375His) |
single nucleotide variant |
Cardiovascular phenotype [RCV002442329] |
Chr12:51916110 [GRCh38]
Chr12:52309894 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1227C>A (p.Ala409=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002375863] |
Chr12:51916214 [GRCh38]
Chr12:52309998 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.611T>C (p.Leu204Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002360279] |
Chr12:51914059 [GRCh38]
Chr12:52307843 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.956G>A (p.Gly319Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002374322] |
Chr12:51915408 [GRCh38]
Chr12:52309192 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.988_994dup (p.Lys332fs) |
duplication |
Cardiovascular phenotype [RCV002382900] |
Chr12:51915439..51915440 [GRCh38]
Chr12:52309223..52309224 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.926G>A (p.Gly309Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371435] |
Chr12:51915378 [GRCh38]
Chr12:52309162 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.101G>A (p.Cys34Tyr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378063]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003098413] |
Chr12:51913138 [GRCh38]
Chr12:52306922 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.270C>G (p.Cys90Trp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002431169]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003102134] |
Chr12:51913307 [GRCh38]
Chr12:52307091 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.649T>G (p.Trp217Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364125] |
Chr12:51914462 [GRCh38]
Chr12:52308246 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1271C>T (p.Pro424Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378463] |
Chr12:51919009 [GRCh38]
Chr12:52312793 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.903G>A (p.Arg301=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378470] |
Chr12:51915355 [GRCh38]
Chr12:52309139 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1054G>A (p.Ala352Thr) |
single nucleotide variant |
Cardiovascular phenotype [RCV002406181] |
Chr12:51916041 [GRCh38]
Chr12:52309825 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.999C>A (p.Ser333Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383063] |
Chr12:51915451 [GRCh38]
Chr12:52309235 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.229T>C (p.Cys77Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002428464] |
Chr12:51913266 [GRCh38]
Chr12:52307050 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.971_972insGCGACAAG (p.Ala325fs) |
insertion |
Cardiovascular phenotype [RCV002376697] |
Chr12:51915423..51915424 [GRCh38]
Chr12:52309207..52309208 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1048+5G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002398409] |
Chr12:51915505 [GRCh38]
Chr12:52309289 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1365_1366delinsC (p.Ala456fs) |
indel |
Cardiovascular phenotype [RCV002383567] |
Chr12:51919103..51919104 [GRCh38]
Chr12:52312887..52312888 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.154A>C (p.Thr52Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002403328] |
Chr12:51913191 [GRCh38]
Chr12:52306975 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.73A>T (p.Lys25Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002380509] |
Chr12:51913110 [GRCh38]
Chr12:52306894 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.310G>T (p.Glu104Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002326079] |
Chr12:51913347 [GRCh38]
Chr12:52307131 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.104C>T (p.Thr35Met) |
single nucleotide variant |
Cardiovascular phenotype [RCV002401089] |
Chr12:51913141 [GRCh38]
Chr12:52306925 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1414T>A (p.Trp472Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391671] |
Chr12:51920795 [GRCh38]
Chr12:52314579 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1275C>G (p.Phe425Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002450075]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003103575] |
Chr12:51919013 [GRCh38]
Chr12:52312797 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.247G>A (p.Glu83Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430781]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003775266] |
Chr12:51913284 [GRCh38]
Chr12:52307068 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.643G>T (p.Glu215Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361789] |
Chr12:51914456 [GRCh38]
Chr12:52308240 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1048G>A (p.Gly350Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002398675]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509751] |
Chr12:51915500 [GRCh38]
Chr12:52309284 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.423G>A (p.Trp141Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328192] |
Chr12:51913668 [GRCh38]
Chr12:52307452 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.639T>A (p.Tyr213Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361545] |
Chr12:51914452 [GRCh38]
Chr12:52308236 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.589A>T (p.Thr197Ser) |
single nucleotide variant |
Cardiovascular phenotype [RCV002355660] |
Chr12:51914037 [GRCh38]
Chr12:52307821 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1023C>G (p.Asn341Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002378646] |
Chr12:51915475 [GRCh38]
Chr12:52309259 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.726del (p.Thr243fs) |
deletion |
Cardiovascular phenotype [RCV002382581] |
Chr12:51914539 [GRCh38]
Chr12:52308323 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.177_180dup (p.Arg61fs) |
duplication |
Cardiovascular phenotype [RCV002401810] |
Chr12:51913213..51913214 [GRCh38]
Chr12:52306997..52306998 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.641G>T (p.Gly214Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002361673] |
Chr12:51914454 [GRCh38]
Chr12:52308238 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.489C>T (p.Ile163=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002340590] |
Chr12:51913734 [GRCh38]
Chr12:52307518 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.850T>C (p.Ser284Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002447749] |
Chr12:51915302 [GRCh38]
Chr12:52309086 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.839A>G (p.His280Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002434870] |
Chr12:51915291 [GRCh38]
Chr12:52309075 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.457C>T (p.Leu153=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342191] |
Chr12:51913702 [GRCh38]
Chr12:52307486 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.782C>A (p.Ala261Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002412109] |
Chr12:51915234 [GRCh38]
Chr12:52309018 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.306G>T (p.Val102=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002444330]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619808] |
Chr12:51913343 [GRCh38]
Chr12:52307127 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1005T>C (p.Asn335=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002410886]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003100943] |
Chr12:51915457 [GRCh38]
Chr12:52309241 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.400del (p.Ala134fs) |
deletion |
Cardiovascular phenotype [RCV002375709] |
Chr12:51913644 [GRCh38]
Chr12:52307428 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.42G>C (p.Leu14=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002331883] |
Chr12:51912516 [GRCh38]
Chr12:52306300 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.928C>T (p.Leu310=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371478] |
Chr12:51915380 [GRCh38]
Chr12:52309164 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.926G>T (p.Gly309Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002371436] |
Chr12:51915378 [GRCh38]
Chr12:52309162 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1497T>C (p.Pro499=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002389828] |
Chr12:51920878 [GRCh38]
Chr12:52314662 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.18dup (p.Arg7fs) |
duplication |
Cardiovascular phenotype [RCV002408231] |
Chr12:51912487..51912488 [GRCh38]
Chr12:52306271..52306272 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.689TCT[1] (p.Phe231del) |
microsatellite |
Cardiovascular phenotype [RCV002362375]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003098419] |
Chr12:51914502..51914504 [GRCh38]
Chr12:52308286..52308288 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.239_240insT (p.Thr82fs) |
insertion |
Cardiovascular phenotype [RCV002428552]|not provided [RCV003481308] |
Chr12:51913276..51913277 [GRCh38]
Chr12:52307060..52307061 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.210_213delinsAAA (p.Leu72fs) |
indel |
Cardiovascular phenotype [RCV002424209] |
Chr12:51913247..51913250 [GRCh38]
Chr12:52307031..52307034 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.538A>G (p.Ser180Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002347168] |
Chr12:51913986 [GRCh38]
Chr12:52307770 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.235G>A (p.Gly79Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002448523]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509759] |
Chr12:51913272 [GRCh38]
Chr12:52307056 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.900del (p.Arg301fs) |
deletion |
Cardiovascular phenotype [RCV002376384] |
Chr12:51915352 [GRCh38]
Chr12:52309136 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1048+1G>T |
single nucleotide variant |
Cardiovascular phenotype [RCV002398404] |
Chr12:51915501 [GRCh38]
Chr12:52309285 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.866T>C (p.Leu289Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002373349]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003099999] |
Chr12:51915318 [GRCh38]
Chr12:52309102 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1456A>G (p.Lys486Glu) |
single nucleotide variant |
Cardiovascular phenotype [RCV002394711] |
Chr12:51920837 [GRCh38]
Chr12:52314621 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.463A>C (p.Ser155Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV002342589] |
Chr12:51913708 [GRCh38]
Chr12:52307492 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1416G>A (p.Trp472Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002391704]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509749] |
Chr12:51920797 [GRCh38]
Chr12:52314581 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.423G>T (p.Trp141Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002328198] |
Chr12:51913668 [GRCh38]
Chr12:52307452 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.704A>G (p.Asp235Gly) |
single nucleotide variant |
Cardiovascular phenotype [RCV002364967] |
Chr12:51914517 [GRCh38]
Chr12:52308301 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.968A>C (p.Lys323Thr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002299283] |
Chr12:51915420 [GRCh38]
Chr12:52309204 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.313+2T>C |
single nucleotide variant |
Cardiovascular phenotype [RCV002320589] |
Chr12:51913352 [GRCh38]
Chr12:52307136 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.824T>C (p.Leu275Pro) |
single nucleotide variant |
Cardiovascular phenotype [RCV002430154]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509739] |
Chr12:51915276 [GRCh38]
Chr12:52309060 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.466G>A (p.Glu156Lys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002335147]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509718]|not provided [RCV003395461] |
Chr12:51913711 [GRCh38]
Chr12:52307495 [GRCh37]
Chr12:12q13.13 |
likely benign|uncertain significance |
| NM_000020.3(ACVRL1):c.500C>G (p.Ser167Cys) |
single nucleotide variant |
Cardiovascular phenotype [RCV002343094]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003096562] |
Chr12:51913745 [GRCh38]
Chr12:52307529 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.703del (p.Asp235fs) |
deletion |
Cardiovascular phenotype [RCV002378278]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509729] |
Chr12:51914514 [GRCh38]
Chr12:52308298 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1187C>T (p.Thr396Ile) |
single nucleotide variant |
Cardiovascular phenotype [RCV002330817]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003138191] |
Chr12:51916174 [GRCh38]
Chr12:52309958 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.214_219del (p.Leu72_His73del) |
deletion |
Cardiovascular phenotype [RCV002430540] |
Chr12:51913249..51913254 [GRCh38]
Chr12:52307033..52307038 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.717G>A (p.Trp239Ter) |
single nucleotide variant |
Cardiovascular phenotype [RCV002370716]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003098489] |
Chr12:51914530 [GRCh38]
Chr12:52308314 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1130C>T (p.Ala377Val) |
single nucleotide variant |
Cardiovascular phenotype [RCV002320845]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619763] |
Chr12:51916117 [GRCh38]
Chr12:52309901 [GRCh37]
Chr12:12q13.13 |
likely pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.766del (p.Ile256fs) |
deletion |
Cardiovascular phenotype [RCV002396479] |
Chr12:51914579 [GRCh38]
Chr12:52308363 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1261T>G (p.Tyr421Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV002414359] |
Chr12:51918999 [GRCh38]
Chr12:52312783 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1470A>G (p.Gln490=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002396915] |
Chr12:51920851 [GRCh38]
Chr12:52314635 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1398_1399del (p.Gln466fs) |
deletion |
Cardiovascular phenotype [RCV002389143] |
Chr12:51920778..51920779 [GRCh38]
Chr12:52314562..52314563 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.99C>G (p.Thr33=) |
single nucleotide variant |
Cardiovascular phenotype [RCV002383097] |
Chr12:51913136 [GRCh38]
Chr12:52306920 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1035C>A (p.Cys345Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002881028] |
Chr12:51915487 [GRCh38]
Chr12:52309271 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.271G>A (p.Asp91Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002967858] |
Chr12:51913308 [GRCh38]
Chr12:52307092 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.773-7C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003015716] |
Chr12:51915218 [GRCh38]
Chr12:52309002 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.974C>G (p.Ala325Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002731536] |
Chr12:51915426 [GRCh38]
Chr12:52309210 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.619T>G (p.Cys207Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002838897] |
Chr12:51914067 [GRCh38]
Chr12:52307851 [GRCh37]
Chr12:12q13.13 |
pathogenic|uncertain significance |
| NM_000020.3(ACVRL1):c.183G>C (p.Arg61Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002690415] |
Chr12:51913220 [GRCh38]
Chr12:52307004 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1044_1048+4dup |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002819808] |
Chr12:51915493..51915494 [GRCh38]
Chr12:52309277..52309278 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.812C>G (p.Thr271Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002815579] |
Chr12:51915264 [GRCh38]
Chr12:52309048 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.525+7G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002618270] |
Chr12:51913777 [GRCh38]
Chr12:52307561 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.651del (p.Trp217fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002867209] |
Chr12:51914463 [GRCh38]
Chr12:52308247 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.61+1G>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619811]|not provided [RCV003036976] |
Chr12:51912536 [GRCh38]
Chr12:52306320 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1361G>A (p.Arg454Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002638558] |
Chr12:51919099 [GRCh38]
Chr12:52312883 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.368T>A (p.Leu123Gln) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003081775] |
Chr12:51913613 [GRCh38]
Chr12:52307397 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.962_963del (p.Gln321fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002871341] |
Chr12:51915414..51915415 [GRCh38]
Chr12:52309198..52309199 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.132delinsCACATTGCAAGGTGCAAGGGTGC (p.Cys46fs) |
indel |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002760797] |
Chr12:51913169 [GRCh38]
Chr12:52306953 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.526-13T>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003037708] |
Chr12:51913961 [GRCh38]
Chr12:52307745 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.877del (p.Thr293fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002735848] |
Chr12:51915329 [GRCh38]
Chr12:52309113 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.151T>A (p.Cys51Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003036774] |
Chr12:51913188 [GRCh38]
Chr12:52306972 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1010T>G (p.Leu337Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002848252] |
Chr12:51915462 [GRCh38]
Chr12:52309246 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1359C>T (p.Asn453=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002705867] |
Chr12:51919097 [GRCh38]
Chr12:52312881 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.476A>G (p.Glu159Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002885968] |
Chr12:51913721 [GRCh38]
Chr12:52307505 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1192A>G (p.Ile398Val) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003079464] |
Chr12:51916179 [GRCh38]
Chr12:52309963 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1260del (p.Tyr421fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003025977] |
Chr12:51918998 [GRCh38]
Chr12:52312782 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1161G>C (p.Thr387=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002700803] |
Chr12:51916148 [GRCh38]
Chr12:52309932 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.113G>A (p.Ser38Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002667875] |
Chr12:51913150 [GRCh38]
Chr12:52306934 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.864dup (p.Leu289fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003041158] |
Chr12:51915313..51915314 [GRCh38]
Chr12:52309097..52309098 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.988G>T (p.Asp330Tyr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003041159] |
Chr12:51915440 [GRCh38]
Chr12:52309224 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.688A>T (p.Ile230Phe) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003006346] |
Chr12:51914501 [GRCh38]
Chr12:52308285 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.62-9G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002917239] |
Chr12:51913090 [GRCh38]
Chr12:52306874 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.499T>C (p.Ser167Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002958050] |
Chr12:51913744 [GRCh38]
Chr12:52307528 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1044C>G (p.Asp348Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002671073] |
Chr12:51915496 [GRCh38]
Chr12:52309280 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.469C>T (p.Leu157=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004073149]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003090237] |
Chr12:51913714 [GRCh38]
Chr12:52307498 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1198del (p.Ala400fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002856661] |
Chr12:51916183 [GRCh38]
Chr12:52309967 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.314-9C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002962843] |
Chr12:51913550 [GRCh38]
Chr12:52307334 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.430del (p.Arg144fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002899247] |
Chr12:51913674 [GRCh38]
Chr12:52307458 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.673del (p.Ser225fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002899207] |
Chr12:51914486 [GRCh38]
Chr12:52308270 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.990C>G (p.Asp330Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002899238] |
Chr12:51915442 [GRCh38]
Chr12:52309226 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1408dup (p.Glu470fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002899347] |
Chr12:51920786..51920787 [GRCh38]
Chr12:52314570..52314571 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1048+8G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002579343] |
Chr12:51915508 [GRCh38]
Chr12:52309292 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.897T>C (p.Ala299=) |
single nucleotide variant |
ACVRL1-related disorder [RCV004548425]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV002939083] |
Chr12:51915349 [GRCh38]
Chr12:52309133 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1315A>T (p.Lys439Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003044692] |
Chr12:51919053 [GRCh38]
Chr12:52312837 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.838_842del (p.His280fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002898687] |
Chr12:51915290..51915294 [GRCh38]
Chr12:52309074..52309078 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.938T>G (p.Leu313Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002937639] |
Chr12:51915390 [GRCh38]
Chr12:52309174 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1048+5G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003062517] |
Chr12:51915505 [GRCh38]
Chr12:52309289 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.847G>A (p.Gly283Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002988582] |
Chr12:51915299 [GRCh38]
Chr12:52309083 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.100T>C (p.Cys34Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002583485] |
Chr12:51913137 [GRCh38]
Chr12:52306921 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1198G>A (p.Ala400Thr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003093198]|not provided [RCV003443127] |
Chr12:51916185 [GRCh38]
Chr12:52309969 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.61+1G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV002726102] |
Chr12:51912536 [GRCh38]
Chr12:52306320 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.915C>T (p.Ser305=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177585]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509784] |
Chr12:51915367 [GRCh38]
Chr12:52309151 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1263T>C (p.Tyr421=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003300907]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509795] |
Chr12:51919001 [GRCh38]
Chr12:52312785 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1214T>C (p.Leu405Pro) |
single nucleotide variant |
not provided [RCV003222770] |
Chr12:51916201 [GRCh38]
Chr12:52309985 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.309G>A (p.Leu103=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003177584] |
Chr12:51913346 [GRCh38]
Chr12:52307130 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1166G>A (p.Cys389Tyr) |
single nucleotide variant |
not specified [RCV003322479] |
Chr12:51916153 [GRCh38]
Chr12:52309937 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1378-78T>G |
single nucleotide variant |
Cardiovascular phenotype [RCV003310441] |
Chr12:51920681 [GRCh38]
Chr12:52314465 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.905T>G (p.Leu302Arg) |
single nucleotide variant |
not provided [RCV003321996] |
Chr12:51915357 [GRCh38]
Chr12:52309141 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.696C>T (p.Ser232=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003339154] |
Chr12:51914509 [GRCh38]
Chr12:52308293 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.339G>A (p.Pro113=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003339155]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003777488] |
Chr12:51913584 [GRCh38]
Chr12:52307368 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.-5-17C>T |
single nucleotide variant |
not provided [RCV003326859] |
Chr12:51912453 [GRCh38]
Chr12:52306237 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1440C>T (p.Leu480=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003339153] |
Chr12:51920821 [GRCh38]
Chr12:52314605 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.474del (p.Glu159fs) |
deletion |
Cardiovascular phenotype [RCV003341998] |
Chr12:51913719 [GRCh38]
Chr12:52307503 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.456C>T (p.Gly152=) |
single nucleotide variant |
Cardiovascular phenotype [RCV003387081] |
Chr12:51913701 [GRCh38]
Chr12:52307485 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.55dup (p.Thr19fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003333622] |
Chr12:51912528..51912529 [GRCh38]
Chr12:52306312..52306313 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.182G>A (p.Arg61Lys) |
single nucleotide variant |
Hereditary hemorrhagic telangiectasia [RCV003458985] |
Chr12:51913219 [GRCh38]
Chr12:52307003 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.217C>G (p.His73Asp) |
single nucleotide variant |
Cardiovascular phenotype [RCV004350949] |
Chr12:51913254 [GRCh38]
Chr12:52307038 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1378-11C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511209] |
Chr12:51920748 [GRCh38]
Chr12:52314532 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.543_544del (p.Asp181fs) |
deletion |
not provided [RCV003480488] |
Chr12:51913991..51913992 [GRCh38]
Chr12:52307775..52307776 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1347dup (p.Thr450fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619851]|not provided [RCV003480489] |
Chr12:51919080..51919081 [GRCh38]
Chr12:52312864..52312865 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.180del (p.Arg61fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003484235] |
Chr12:51913214 [GRCh38]
Chr12:52306998 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| GRCh37/hg19 12q13.13(chr12:52249052-52368252)x3 |
copy number gain |
not provided [RCV003484868] |
Chr12:52249052..52368252 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1049G>T (p.Gly350Val) |
single nucleotide variant |
not provided [RCV003482069] |
Chr12:51916036 [GRCh38]
Chr12:52309820 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1376del (p.Pro459fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003484560] |
Chr12:51919112 [GRCh38]
Chr12:52312896 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.830C>T (p.Thr277Met) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511394] |
Chr12:51915282 [GRCh38]
Chr12:52309066 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1436_1440dup (p.Thr481fs) |
duplication |
ACVRL1-related disorder [RCV004550617] |
Chr12:51920815..51920816 [GRCh38]
Chr12:52314599..52314600 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.526-4C>T |
single nucleotide variant |
not provided [RCV003391829] |
Chr12:51913970 [GRCh38]
Chr12:52307754 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.548C>A (p.Thr183Asn) |
single nucleotide variant |
not provided [RCV003391830] |
Chr12:51913996 [GRCh38]
Chr12:52307780 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1251C>T (p.Ile417=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004364502]|not provided [RCV003391831] |
Chr12:51918989 [GRCh38]
Chr12:52312773 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.140G>A (p.Arg47Gln) |
single nucleotide variant |
not provided [RCV003391828] |
Chr12:51913177 [GRCh38]
Chr12:52306961 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.376del (p.Val126fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510243] |
Chr12:51913621 [GRCh38]
Chr12:52307405 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.586A>G (p.Arg196Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511370] |
Chr12:51914034 [GRCh38]
Chr12:52307818 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1040_1042dup (p.Ala347_Asp348insAla) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510617] |
Chr12:51915489..51915490 [GRCh38]
Chr12:52309273..52309274 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.626-16C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510986] |
Chr12:51914423 [GRCh38]
Chr12:52308207 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.205T>G (p.Cys69Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510987] |
Chr12:51913242 [GRCh38]
Chr12:52307026 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.748T>G (p.Leu250Val) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509835] |
Chr12:51914561 [GRCh38]
Chr12:52308345 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.313+1G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509839] |
Chr12:51913351 [GRCh38]
Chr12:52307135 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.633C>T (p.Gly211=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511174] |
Chr12:51914446 [GRCh38]
Chr12:52308230 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1136A>T (p.Glu379Val) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509924] |
Chr12:51916123 [GRCh38]
Chr12:52309907 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1426_1428del (p.Pro476del) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510649] |
Chr12:51920806..51920808 [GRCh38]
Chr12:52314590..52314592 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.935A>C (p.His312Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510005] |
Chr12:51915387 [GRCh38]
Chr12:52309171 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1048+7C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509246] |
Chr12:51915507 [GRCh38]
Chr12:52309291 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1444G>A (p.Ala482Thr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510750] |
Chr12:51920825 [GRCh38]
Chr12:52314609 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.314-16T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511422] |
Chr12:51913543 [GRCh38]
Chr12:52307327 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.303_313+2del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509381] |
Chr12:51913339..51913351 [GRCh38]
Chr12:52307123..52307135 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.281T>C (p.Leu94Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510258] |
Chr12:51913318 [GRCh38]
Chr12:52307102 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1246+11A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510868] |
Chr12:51916244 [GRCh38]
Chr12:52310028 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.180G>A (p.Gly60=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510906] |
Chr12:51913217 [GRCh38]
Chr12:52307001 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NC_000012.11:g.52199766_52388207del |
deletion |
Cognitive impairment with or without cerebellar ataxia [RCV003883317] |
Chr12:52199766..52388207 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.772+27G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511045] |
Chr12:51914612 [GRCh38]
Chr12:52308396 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1038C>G (p.Ile346Met) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510519] |
Chr12:51915490 [GRCh38]
Chr12:52309274 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.670G>A (p.Glu224Lys) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508990] |
Chr12:51914483 [GRCh38]
Chr12:52308267 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.686A>G (p.Lys229Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508991] |
Chr12:51914499 [GRCh38]
Chr12:52308283 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1133C>A (p.Pro378His) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508993] |
Chr12:51916120 [GRCh38]
Chr12:52309904 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1133C>T (p.Pro378Leu) |
single nucleotide variant |
Cardiovascular phenotype [RCV004369276]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508994] |
Chr12:51916120 [GRCh38]
Chr12:52309904 [GRCh37]
Chr12:12q13.13 |
pathogenic|likely pathogenic |
| NM_000020.3(ACVRL1):c.625+3G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511018] |
Chr12:51914076 [GRCh38]
Chr12:52307860 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.625+4del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509876] |
Chr12:51914077 [GRCh38]
Chr12:52307861 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.525+1G>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508985] |
Chr12:51913771 [GRCh38]
Chr12:52307555 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.583C>T (p.Gln195Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508988] |
Chr12:51914031 [GRCh38]
Chr12:52307815 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.495A>G (p.Lys165=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511433] |
Chr12:51913740 [GRCh38]
Chr12:52307524 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1261T>A (p.Tyr421Asn) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510719] |
Chr12:51918999 [GRCh38]
Chr12:52312783 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.286A>C (p.Asn96His) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510195] |
Chr12:51913323 [GRCh38]
Chr12:52307107 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1229G>A (p.Arg410His) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510834] |
Chr12:51916216 [GRCh38]
Chr12:52310000 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1136A>G (p.Glu379Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509388] |
Chr12:51916123 [GRCh38]
Chr12:52309907 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1055C>T (p.Ala352Val) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509447] |
Chr12:51916042 [GRCh38]
Chr12:52309826 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1378-131C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511328] |
Chr12:51920628 [GRCh38]
Chr12:52314412 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.983A>G (p.His328Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510376] |
Chr12:51915435 [GRCh38]
Chr12:52309219 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.589A>G (p.Thr197Ala) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509311] |
Chr12:51914037 [GRCh38]
Chr12:52307821 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.525+3A>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508986] |
Chr12:51913773 [GRCh38]
Chr12:52307557 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1039G>C (p.Ala347Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508992] |
Chr12:51915491 [GRCh38]
Chr12:52309275 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.921A>T (p.Ala307=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510483] |
Chr12:51915373 [GRCh38]
Chr12:52309157 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.933G>C (p.Ala311=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510471] |
Chr12:51915385 [GRCh38]
Chr12:52309169 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.576C>G (p.Phe192Leu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003511285] |
Chr12:51914024 [GRCh38]
Chr12:52307808 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1049-9C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003881162] |
Chr12:51916027 [GRCh38]
Chr12:52309811 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1438C>A (p.Leu480Ile) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003509933] |
Chr12:51920819 [GRCh38]
Chr12:52314603 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.526G>T (p.Asp176Tyr) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508987] |
Chr12:51913974 [GRCh38]
Chr12:52307758 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.631G>A (p.Gly211Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508989] |
Chr12:51914444 [GRCh38]
Chr12:52308228 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1396C>T (p.Gln466Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508995] |
Chr12:51920777 [GRCh38]
Chr12:52314561 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1445C>A (p.Ala482Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003508996] |
Chr12:51920826 [GRCh38]
Chr12:52314610 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1008_1009del (p.Leu337fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510752] |
Chr12:51915460..51915461 [GRCh38]
Chr12:52309244..52309245 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1378-69C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003510793] |
Chr12:51920690 [GRCh38]
Chr12:52314474 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.670G>T (p.Glu224Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620778] |
Chr12:51914483 [GRCh38]
Chr12:52308267 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1362del (p.Leu455fs) |
deletion |
Hereditary hemorrhagic telangiectasia [RCV003994730] |
Chr12:51919099 [GRCh38]
Chr12:52312883 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1211T>A (p.Val404Glu) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620509] |
Chr12:51916198 [GRCh38]
Chr12:52309982 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1378-49C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620508] |
Chr12:51920710 [GRCh38]
Chr12:52314494 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1378-297T>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620506] |
Chr12:51920462 [GRCh38]
Chr12:52314246 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1377+745G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620505] |
Chr12:51919860 [GRCh38]
Chr12:52313644 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.1188T>C (p.Thr396=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620638] |
Chr12:51916175 [GRCh38]
Chr12:52309959 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1042G>C (p.Asp348His) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620809] |
Chr12:51915494 [GRCh38]
Chr12:52309278 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.199del (p.Arg67fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620833] |
Chr12:51913236 [GRCh38]
Chr12:52307020 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1199C>T (p.Ala400Val) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620332] |
Chr12:51916186 [GRCh38]
Chr12:52309970 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.761ACA[1] (p.Asn255del) |
microsatellite |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620849] |
Chr12:51914574..51914576 [GRCh38]
Chr12:52308358..52308360 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.525+14_525+21del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620697] |
Chr12:51913778..51913785 [GRCh38]
Chr12:52307562..52307569 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.909T>C (p.Ala303=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620140] |
Chr12:51915361 [GRCh38]
Chr12:52309145 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1327T>G (p.Cys443Gly) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620704] |
Chr12:51919065 [GRCh38]
Chr12:52312849 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1411T>C (p.Cys471Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620706] |
Chr12:51920792 [GRCh38]
Chr12:52314576 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1247-7T>G |
single nucleotide variant |
Hereditary hemorrhagic telangiectasia [RCV003994755] |
Chr12:51918978 [GRCh38]
Chr12:52312762 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.763A>G (p.Asn255Asp) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619474] |
Chr12:51914576 [GRCh38]
Chr12:52308360 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.919del (p.Ala307fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620262] |
Chr12:51915370 [GRCh38]
Chr12:52309154 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1377+55T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620507] |
Chr12:51919170 [GRCh38]
Chr12:52312954 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1049-16G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620502] |
Chr12:51916020 [GRCh38]
Chr12:52309804 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1191C>T (p.Asp397=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619539] |
Chr12:51916178 [GRCh38]
Chr12:52309962 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.314-19C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619601] |
Chr12:51913540 [GRCh38]
Chr12:52307324 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.625+20G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619595] |
Chr12:51914093 [GRCh38]
Chr12:52307877 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1443C>G (p.Thr481=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620455] |
Chr12:51920824 [GRCh38]
Chr12:52314608 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1378-4C>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620579] |
Chr12:51920755 [GRCh38]
Chr12:52314539 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1377+20T>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620374] |
Chr12:51919135 [GRCh38]
Chr12:52312919 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1464A>C (p.Thr488=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003620377] |
Chr12:51920845 [GRCh38]
Chr12:52314629 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.988G>C (p.Asp330His) |
single nucleotide variant |
Hereditary hemorrhagic telangiectasia [RCV003994713] |
Chr12:51915440 [GRCh38]
Chr12:52309224 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1048+2T>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003619240] |
Chr12:51915502 [GRCh38]
Chr12:52309286 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.806C>A (p.Ser269Ter) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003837808] |
Chr12:51915258 [GRCh38]
Chr12:52309042 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.851_905del (p.Gly283_Ser284insTer) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621161] |
Chr12:51915299..51915353 [GRCh38]
Chr12:52309083..52309137 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.314-13C>T |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003823272] |
Chr12:51913546 [GRCh38]
Chr12:52307330 [GRCh37]
Chr12:12q13.13 |
benign |
| NM_000020.3(ACVRL1):c.61+14G>A |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621287] |
Chr12:51912549 [GRCh38]
Chr12:52306333 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.320_323dup (p.Pro109fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621396] |
Chr12:51913562..51913563 [GRCh38]
Chr12:52307346..52307347 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.721C>T (p.Arg241Trp) |
single nucleotide variant |
Heritable pulmonary arterial hypertension [RCV003991492]|Telangiectasia, hereditary hemorrhagic, type 2 [RCV003872441] |
Chr12:51914534 [GRCh38]
Chr12:52308318 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1467A>G (p.Leu489=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003870661] |
Chr12:51920848 [GRCh38]
Chr12:52314632 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1403T>G (p.Met468Arg) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621093] |
Chr12:51920784 [GRCh38]
Chr12:52314568 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.843G>A (p.Glu281=) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003820365] |
Chr12:51915295 [GRCh38]
Chr12:52309079 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.100T>A (p.Cys34Ser) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003842958] |
Chr12:51913137 [GRCh38]
Chr12:52306921 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.913_916del (p.Ser305fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621397] |
Chr12:51915364..51915367 [GRCh38]
Chr12:52309148..52309151 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1444G>C (p.Ala482Pro) |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621464] |
Chr12:51920825 [GRCh38]
Chr12:52314609 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.191dup (p.Glu65fs) |
duplication |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621005] |
Chr12:51913227..51913228 [GRCh38]
Chr12:52307011..52307012 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.1247-13T>G |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003858283] |
Chr12:51918972 [GRCh38]
Chr12:52312756 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1246+16A>C |
single nucleotide variant |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621197] |
Chr12:51916249 [GRCh38]
Chr12:52310033 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.789del (p.Asp263fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621147] |
Chr12:51915241 [GRCh38]
Chr12:52309025 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.772+14_772+16delinsTAG |
indel |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003621394] |
Chr12:51914599..51914601 [GRCh38]
Chr12:52308383..52308385 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.114C>T (p.Ser38=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004516075] |
Chr12:51913151 [GRCh38]
Chr12:52306935 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.442_444del (p.Glu148del) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003989275] |
Chr12:51913685..51913687 [GRCh38]
Chr12:52307469..52307471 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.620del (p.Cys207fs) |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV003989276] |
Chr12:51914068 [GRCh38]
Chr12:52307852 [GRCh37]
Chr12:12q13.13 |
pathogenic |
| NM_000020.3(ACVRL1):c.474A>G (p.Gly158=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004520463] |
Chr12:51913719 [GRCh38]
Chr12:52307503 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.498A>G (p.Ala166=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004520483] |
Chr12:51913743 [GRCh38]
Chr12:52307527 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.690C>A (p.Ile230=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004520640] |
Chr12:51914503 [GRCh38]
Chr12:52308287 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.820T>C (p.Trp274Arg) |
single nucleotide variant |
Cardiovascular phenotype [RCV004520701] |
Chr12:51915272 [GRCh38]
Chr12:52309056 [GRCh37]
Chr12:12q13.13 |
uncertain significance |
| NM_000020.3(ACVRL1):c.1011G>A (p.Leu337=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004518720] |
Chr12:51915463 [GRCh38]
Chr12:52309247 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1359_1360delinsT (p.Arg454fs) |
indel |
Hereditary hemorrhagic telangiectasia [RCV003994639] |
Chr12:51919097..51919098 [GRCh38]
Chr12:52312881..52312882 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.937C>T (p.Leu313=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522774] |
Chr12:51915389 [GRCh38]
Chr12:52309173 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.222G>A (p.Arg74=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004522304] |
Chr12:51913259 [GRCh38]
Chr12:52307043 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.1378-128G>A |
single nucleotide variant |
ACVRL1-related disorder [RCV004548878] |
Chr12:51920631 [GRCh38]
Chr12:52314415 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.852_853del (p.Tyr286fs) |
deletion |
Hereditary hemorrhagic telangiectasia [RCV004018385] |
Chr12:51915303..51915304 [GRCh38]
Chr12:52309087..52309088 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NM_000020.3(ACVRL1):c.1503G>A (p.Val501=) |
single nucleotide variant |
Cardiovascular phenotype [RCV004524438] |
Chr12:51920884 [GRCh38]
Chr12:52314668 [GRCh37]
Chr12:12q13.13 |
likely benign |
| NM_000020.3(ACVRL1):c.404del (p.Leu135fs) |
deletion |
Hereditary hemorrhagic telangiectasia [RCV004018337] |
Chr12:51913649 [GRCh38]
Chr12:52307433 [GRCh37]
Chr12:12q13.13 |
likely pathogenic |
| NC_000012.11:g.(?_52306259)_(52309304_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV004578432] |
Chr12:52306259..52309304 [GRCh37] |
pathogenic |
| NC_000012.11:g.(?_52297387)_(52306941_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV004578433] |
Chr12:52297387..52306941 [GRCh37] |
pathogenic |
| NC_000012.11:g.(?_52301495)_(52307461_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV004578434] |
Chr12:52301495..52307461 [GRCh37] |
pathogenic |
| NC_000012.11:g.(?_52307805)_(52315735_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV004578435] |
Chr12:52307805..52315735 [GRCh37] |
pathogenic |
| NC_000012.11:g.(?_52308317)_(52322674_?)del |
deletion |
Telangiectasia, hereditary hemorrhagic, type 2 [RCV004578436] |
Chr12:52308317..52322674 [GRCh37] |
pathogenic |
