Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)	SNV Germline	Chr12:51916219	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Reviewed By Expert Panel	CA119395	rs_121909284	14 SubmittersRCV000008726 RCV000008727 RCV000522363 RCV002371767
NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)	SNV Germline	Chr12:51916107	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype ACVRL1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA119397	rs_28936401	12 SubmittersRCV000008733 RCV000008734 RCV000330901 RCV002433448 RCV004547469
NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)	SNV Germline	Chr12:51916218	Pathogenic/Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA119402	rs_121909287	9 SubmittersRCV000008738 RCV000008737 RCV000199381 RCV002362571
NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)	SNV Germline	Chr12:51920831	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 not specified Pulmonary arterial hypertension Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA119404	rs_121909288	10 SubmittersRCV000008740 RCV000008739 RCV000507762 RCV001003756 RCV001564363 RCV002390099
NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)	SNV Germline	Chr12:51914445	Pathogenic/Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2	Criteria Provided Multiple Submitters No Conflicts	CA119406	rs_28936687	3 SubmittersRCV000008741 RCV001001392
NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)	SNV Germline	Chr12:51915483	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Condition: not provided See cases Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA119408	rs_28936688	9 SubmittersRCV000008742 RCV000008743 RCV001507809 RCV001844010 RCV002381244
NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)	SNV Germline	Chr12:51916183	Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Single Submitter	CA119410	rs_121909289	2 SubmittersRCV000008744 RCV002345234
NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)	SNV Germline	Chr18:51065548	Pathogenic/Likely pathogenic	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome SMAD4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128095	rs_80338963	10 SubmittersRCV000009071 RCV000009072 RCV000059732 RCV001376609 RCV002311508 RCV003924819
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)	SNV Germline	Chr18:51067036	Pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	No Assertion Criteria Provided	CA128103	rs_121912580	1 SubmittersRCV000009074
NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter)	SNV Germline	Chr2:202542331	Pathogenic	Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia Pulmonary hypertension, primary, 1	No Assertion Criteria Provided	CA119941	rs_137852756	2 SubmittersRCV000009367 RCV000488712
NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)	SNV Germline	Chr9:127824960	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter	CA257566	rs_121918400	2 SubmittersRCV000018148 RCV003593860
NM_001114753.3(ENG):c.360+4A>G	SNV Germline	Chr9:127829683	Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1564457752	5 SubmittersRCV000018151 RCV001851903 RCV004018638 RCV004700247
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)	SNV Germline	Chr9:127829687	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA257574	rs_121918402	3 SubmittersRCV000018156 RCV001212827
NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)	SNV Germline	Chr18:51048839	Pathogenic	Condition: not provided Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259169	rs_377767326	5 SubmittersRCV001556662 RCV001376608 RCV003162257 RCV003584515 RCV004018652
NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)	SNV Germline	Chr18:51054859	Pathogenic/Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA259180	rs_377767331	5 SubmittersRCV001310210 RCV002310632 RCV002288516 RCV004719657
NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	SNV Germline	Chr18:51065521	Pathogenic/Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Juvenile polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128090	rs_121912581	5 SubmittersRCV000009075 RCV000059731 RCV001731312
NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)	SNV Germline	Chr18:51065548	Pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128092	rs_80338963	2 SubmittersRCV002470716 RCV002228051
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	SNV Germline	Chr18:51065549	Pathogenic/Likely pathogenic	Condition: not provided Juvenile polyposis syndrome Carcinoma of pancreas Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128097	rs_377767347	6 SubmittersRCV000520995 RCV000635423 RCV000763030 RCV002316201 RCV004018654
NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)	SNV Germline/somatic	Chr18:51076662	Pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Gallbladder cancer Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Neoplasm	Criteria Provided Multiple Submitters No Conflicts	CA189448	rs_377767360	8 SubmittersRCV000023059 RCV000493396 RCV001374448 RCV001376567 RCV002310634 RCV004668739
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)	SNV Germline	Chr18:51078306	Pathogenic	Myhre syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Myhre syndrome Intellectual disability Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Neurodevelopmental delay Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection SMAD4-related disorder Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128979	rs_281875322	43 SubmittersRCV000023061 RCV000059733 RCV000635427 RCV000763031 RCV001260808 RCV001249691 RCV001375955 RCV001376590 RCV004558272 RCV004745165 RCV004820822
NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys)	SNV Germline	Chr18:51065606	Pathogenic/Likely pathogenic	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA259219	rs_377767353	3 SubmittersRCV001376547 RCV002453278 RCV004018695
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)	SNV Germline	Chr18:51078381	Conflicting classifications of pathogenicity	Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Gastrointestinal polyposis not specified Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211890	rs_149755320	27 SubmittersRCV000034710 RCV000123259 RCV000148889 RCV000213006 RCV000327173 RCV000383039 RCV000771070 RCV001170612 RCV001420980 RCV002310997
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)	SNV Germline	Chr18:51054891	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome not specified Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA162128	rs_140743238	17 SubmittersRCV000034711 RCV000115884 RCV000122057 RCV000196842 RCV001507132 RCV002310998 RCV003315550
NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)	SNV Germline	Chr18:51047084	Conflicting classifications of pathogenicity	Condition: not provided not specified Pulmonary hypertension, primary, 1 Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA162125	rs_281875323	11 SubmittersRCV000059736 RCV000122056 RCV000488661 RCV000561032 RCV000662613 RCV001293427 RCV002311543 RCV003315582
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)	SNV Germline	Chr18:51078294	Conflicting classifications of pathogenicity	Myhre syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Carcinoma of pancreas Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome SMAD4-related disorder Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Moyamoya angiopathy	Criteria Provided Conflicting Classifications	CA145285	rs_397518413	28 SubmittersRCV000074360 RCV000160962 RCV000541839 RCV002228175 RCV002311544 RCV002483120 RCV003398656 RCV003584539 RCV004767058 RCV004703205
NM_005359.6(SMAD4):c.424+5G>A	SNV Germline	Chr18:51048865	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli not specified Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA288122	rs_200772603	19 SubmittersRCV000115883 RCV000204731 RCV000213004 RCV000306889 RCV000346296 RCV000656977 RCV000770696 RCV002311002 RCV002228348 RCV004745191
NM_005359.6(SMAD4):c.880A>G (p.Met294Val)	SNV Germline	Chr18:51058432	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA162131	rs_7238500	13 SubmittersRCV000122058 RCV000129038 RCV000195767 RCV000586799 RCV001450076 RCV002310678 RCV003315778 RCV003925209
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)	SNV Germline	Chr18:51059908	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA162134	rs_377119288	12 SubmittersRCV000122059 RCV000132146 RCV000411125 RCV000657009 RCV000770697 RCV001358781 RCV002311007 RCV003315779
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)	SNV Germline	Chr18:51078461	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome not specified Condition: not provided Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186803	rs_199526820	11 SubmittersRCV000123261 RCV000162721 RCV000439984 RCV000858658 RCV001125527 RCV001125528 RCV001450073 RCV002310679 RCV003894971
NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)	SNV Germline	Chr18:51054901	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA332848	rs_587780792	10 SubmittersRCV000123263 RCV000236059 RCV000575742 RCV001293440 RCV002312542 RCV003315821 RCV004767081
NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)	SNV Germline	Chr18:51058128	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Myhre syndrome Carcinoma of pancreas SMAD4-related disorder Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332851	rs_587780793	11 SubmittersRCV000123264 RCV000986028 RCV001358798 RCV002310680 RCV002483236 RCV003422007 RCV003315822 RCV003584556
NM_005359.6(SMAD4):c.1140-10T>C	SNV Germline	Chr18:51067009	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Myhre syndrome Carcinoma of pancreas	Criteria Provided Conflicting Classifications	CA293632	rs_186332162	15 SubmittersRCV000128173 RCV000579485 RCV000586605 RCV001080462 RCV001127535 RCV001127536 RCV001507129 RCV002453458 RCV002492489
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SNV Germline	Chr18:51065573	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Juvenile polyposis syndrome Isolated thoracic aortic aneurysm not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA167654	rs_139569694	12 SubmittersRCV000131130 RCV000555043 RCV003474774 RCV000679584 RCV002478399 RCV001374834 RCV004525878 RCV002311018
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	SNV Germline	Chr9:127825744	Conflicting classifications of pathogenicity	Haemorrhagic telangiectasia 1 Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Pulmonary hypertension, primary, 1 ENG-related disorder	Criteria Provided Conflicting Classifications	CA211422	rs_150932144	8 SubmittersRCV000148487 RCV000457880 RCV000859971 RCV003298151 RCV000488867 RCV003407567
NM_001114753.3(ENG):c.1273-2A>G	SNV Germline	Chr9:127819662	Pathogenic/Likely pathogenic	Haemorrhagic telangiectasia 1 Condition: not provided Hereditary hemorrhagic telangiectasia not specified Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA211924	rs_373842615	8 SubmittersRCV000149883 RCV000256118 RCV000791417 RCV000508197 RCV000679898 RCV002371992
NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)	SNV Germline	Chr18:51058134	Conflicting classifications of pathogenicity	Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Hereditary cancer-predisposing syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome SMAD4-related disorder not specified	Criteria Provided Conflicting Classifications	CA299961	rs_539739051	13 SubmittersRCV000160959 RCV000199953 RCV000260140 RCV000334040 RCV000449407 RCV000515353 RCV001420989 RCV002312690 RCV003483531 RCV004745224 RCV004782262
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)	SNV Germline	Chr18:51047066	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Pulmonary arterial hypertension Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection not specified SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186263	rs_372316981	15 SubmittersRCV000162438 RCV000196213 RCV000589285 RCV000764159 RCV001123230 RCV001123231 RCV001328507 RCV002285148 RCV002310723 RCV002468936 RCV003398830
NM_005359.6(SMAD4):c.21G>A (p.Thr7=)	SNV Germline	Chr18:51047067	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186871	rs_142292491	17 SubmittersRCV000162750 RCV000412290 RCV000760073 RCV001124331 RCV001124332 RCV001450081 RCV002222413 RCV002310727 RCV003927534
NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)	SNV Germline	Chr18:51054861	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Carcinoma of pancreas Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA193193	rs_542392980	11 SubmittersRCV000165366 RCV000236451 RCV000233612 RCV000764161 RCV001293445 RCV002311026 RCV002470782
NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)	SNV Germline	Chr18:51058200	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection SMAD4-related disorder Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA191787	rs_751985298	10 SubmittersRCV000164798 RCV000196374 RCV001508829 RCV003316029 RCV002310740 RCV004724956 RCV001328522
NM_005359.6(SMAD4):c.852A>G (p.Gln284=)	SNV Germline	Chr18:51058404	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli not specified Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Generalized juvenile polyposis/juvenile polyposis coli Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA186319	rs_144378484	13 SubmittersRCV000162465 RCV000200571 RCV000417748 RCV000589728 RCV001124423 RCV001124424 RCV001450056 RCV002310724 RCV003330520
NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)	SNV Germline	Chr18:51058427	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Nephroblastoma Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA188612	rs_786201404	7 SubmittersRCV000163557 RCV000469746 RCV000761013 RCV001589026 RCV002310731 RCV003474849
NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)	SNV Germline	Chr18:51065513	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA191266	rs_564408927	8 SubmittersRCV000164559 RCV000197959 RCV001328514 RCV001770124 RCV002310736 RCV003316025
NM_005359.6(SMAD4):c.1248A>G (p.Arg416=)	SNV Germline	Chr18:51067127	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA193006	rs_786202472	6 SubmittersRCV000412222 RCV001446529 RCV002311024 RCV003316041 RCV003477615
NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)	SNV Germline	Chr18:51054847	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA334504	rs_138800446	10 SubmittersRCV000168261 RCV000236619 RCV000567416 RCV001312225 RCV002281990 RCV002312698 RCV003316069
NM_001114753.3(ENG):c.1572C>T (p.Pro524=)	SNV Germline	Chr9:127818234	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA239724	rs_760682477	3 SubmittersRCV000174219 RCV000633153 RCV003298214
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)	SNV Germline	Chr9:127817175	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA322673	rs_863223539	5 SubmittersRCV000198174 RCV000553924 RCV002408863 RCV004752789
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	SNV Germline	Chr9:127818220	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Cardiovascular phenotype ENG-related disorder	Reviewed By Expert Panel	CA321073	rs_863223538	8 SubmittersRCV000791433 RCV000229345 RCV000755259 RCV002399723 RCV003907720
NM_001114753.3(ENG):c.1428+2T>C	SNV Germline	Chr9:127818714	Pathogenic	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA325022	rs_863223543	3 SubmittersRCV000200447 RCV002390515 RCV001853140
NM_001114753.3(ENG):c.1428+1G>A	SNV Germline	Chr9:127818715	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA322731	rs_863223542	6 SubmittersRCV000198224 RCV000551278 RCV001286561 RCV002390514
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)	SNV Germline	Chr9:127818832	Pathogenic	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA322837	rs_863223536	3 SubmittersRCV000198335 RCV002381667 RCV001056962
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)	SNV Germline	Chr9:127825822	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA324406	rs_863223537	4 SubmittersRCV000199857 RCV000702018 RCV002345703
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)	SNV Germline	Chr9:127829800	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA322606	rs_863223532	6 SubmittersRCV000198121 RCV000695516 RCV002453717
NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)	SNV Germline	Chr12:51915450	Pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Reviewed By Expert Panel	CA322708	rs_863223413	8 SubmittersRCV000198205 RCV000762899 RCV002381661 RCV004767134
NM_000020.3(ACVRL1):c.1377+1G>A	SNV Germline	Chr12:51919116	Pathogenic/Likely pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA322270	rs_863223406	6 SubmittersRCV000197808 RCV000689218 RCV002381659 RCV003993880
NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)	SNV Germline	Chr12:51920832	Pathogenic	Condition: not provided Epistaxis Pulmonary arterial hypertension Telangiectasia, hereditary hemorrhagic, type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia not specified Pulmonary arterial hypertension Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA323134	rs_863223408	9 SubmittersRCV000198604 RCV000414952 RCV000502469 RCV000488871 RCV000506673 RCV001003757 RCV002390510
NM_005359.6(SMAD4):c.-9C>G	SNV Germline	Chr18:51047038	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA349010	rs_864622289	2 SubmittersRCV000204818 RCV004804840
NM_001114753.3(ENG):c.596G>A (p.Arg199His)	SNV Germline	Chr9:127825788	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications	CA5253073	rs_548424658	3 SubmittersRCV000211433 RCV000859173 RCV002262803
NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)	SNV Germline	Chr18:51058193	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Early age onset of sporadic thoracic aortic dissections Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Heritable Thoracic Aortic Disease Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA10580980	rs_876659967	8 SubmittersRCV000220373 RCV001261774 RCV001762494 RCV001124420 RCV000689822 RCV001123336 RCV000678043 RCV001312210 RCV002311325
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	SNV Germline	Chr9:127826586	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided See cases Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1 ENG-related disorder	Reviewed By Expert Panel	CA10582615	rs_878853657	9 SubmittersRCV000231233 RCV000427340 RCV002223199 RCV002327101 RCV002494618 RCV003422129
NM_001114753.3(ENG):c.219+22C>T	SNV Germline	Chr9:127843072	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 not specified Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications	CA5253205	rs_370257876	5 SubmittersRCV000227257 RCV000454889 RCV001513011 RCV003389736
NM_001114753.3(ENG):c.68-1G>A	SNV Germline	Chr9:127843246	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10582616	rs_878853659	4 SubmittersRCV000232191 RCV000578937 RCV001388235 RCV002365173
NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)	SNV Germline	Chr18:51048778	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli not specified Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965768	rs_757211048	6 SubmittersRCV000227775 RCV000441778 RCV000571677 RCV001126991 RCV001126992 RCV001450080 RCV002311351
NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)	SNV Germline	Chr18:51054880	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA8965829	rs_770798845	6 SubmittersRCV000227385 RCV000572439 RCV002311352 RCV003475828 RCV003479073
NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu)	SNV Germline	Chr18:51058436	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA8965916	rs_370176106	7 SubmittersRCV000234236 RCV000479945 RCV000576051 RCV002311353 RCV003475829 RCV004586645
NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)	SNV Germline	Chr18:51078452	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome not specified Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome SMAD4-related disorder Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA8966112	rs_756795016	9 SubmittersRCV000226180 RCV000287385 RCV000340035 RCV000613346 RCV000573053 RCV001450069 RCV003967648 RCV002311349 RCV003326381
NM_001114753.3(ENG):c.360+1G>A	SNV Germline	Chr9:127829686	Pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10588467	rs_886039505	10 SubmittersRCV000255227 RCV000274164 RCV001034674 RCV002450790
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)	SNV Germline	Chr9:127829770	Pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Pulmonary arterial hypertension Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10588468	rs_886039506	10 SubmittersRCV000255761 RCV000545627 RCV000791375 RCV001003750 RCV002436090
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)	SNV Germline	Chr9:127825231	Pathogenic	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA10603083	rs_886041326	3 SubmittersRCV000391772 RCV002418102 RCV003593947
NM_001114753.3(ENG):c.322C>T (p.His108Tyr)	SNV Germline	Chr9:127829725	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5253160	rs_756897517	4 SubmittersRCV000396856 RCV001373160 RCV002058772 RCV004022107
NM_001114753.3(ENG):c.1806C>T (p.Ile602=)	SNV Germline	Chr9:127815989	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Juvenile Polyposis Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252624	rs_373002544	3 SubmittersRCV000313397 RCV000370434 RCV000867486 RCV002411264
NM_001114753.3(ENG):c.900G>A (p.Leu300=)	SNV Germline	Chr9:127824891	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252944	rs_140155568	3 SubmittersRCV000293976 RCV001494202 RCV004619279
NM_001114753.3(ENG):c.321G>T (p.Leu107=)	SNV Germline	Chr9:127829726	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications	CA5253161	rs_767907933	3 SubmittersRCV000298103 RCV000916437 RCV002058773
NM_001114753.3(ENG):c.220-6C>A	SNV Germline	Chr9:127829833	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA5253184	rs_756342212	2 SubmittersRCV000262783 RCV001861340
NM_001114753.3(ENG):c.-63C>T	SNV Germline	Chr9:127854418	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA10632662	rs_886063476	2 SubmittersRCV000285725 RCV003593951
NM_001114753.3(ENG):c.-115G>C	SNV Germline	Chr9:127854470	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA10632669	rs_546892762	2 SubmittersRCV000393275 RCV001861341
NM_005359.6(SMAD4):c.667+3G>A	SNV Germline	Chr18:51054996	Conflicting classifications of pathogenicity	Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965852	rs_757971589	8 SubmittersRCV000263575 RCV000358363 RCV000571451 RCV000635437 RCV001328519 RCV001711942 RCV002314055
NM_005359.6(SMAD4):c.-128+12A>G	SNV Germline	Chr18:51030635	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli not specified	Criteria Provided Conflicting Classifications	CA10651749	rs_886053891	2 SubmittersRCV000267847 RCV000307763 RCV000362423 RCV000613032
NM_005359.6(SMAD4):c.249+10A>C	SNV Germline	Chr18:51047305	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli not specified Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA8965744	rs_752243771	6 SubmittersRCV000295030 RCV000389254 RCV000409679 RCV000427458 RCV000771622 RCV001450078
NM_005359.6(SMAD4):c.*30A>C	SNV Germline	Chr18:51078497	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome	Criteria Provided Conflicting Classifications	CA8966118	rs_767288576	1 SubmittersRCV000298729 RCV000369760 RCV000399233
NM_005359.6(SMAD4):c.*1067G>A	SNV Germline	Chr18:51079534	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA10651763	rs_542839921	2 SubmittersRCV000261227 RCV000319786 RCV000372257 RCV003422294
NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)	SNV Germline/somatic	Chr12:51920816	Pathogenic	Condition: not provided Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA16042853	rs_1057517944	12 SubmittersRCV000414291 RCV000488776 RCV000513497 RCV000533545 RCV002392938 RCV003993947
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)	SNV Germline	Chr9:127854349	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Hereditary hemorrhagic telangiectasia not specified Cardiovascular phenotype ENG-related disorder	Criteria Provided Conflicting Classifications	CA5253268	rs_139334561	10 SubmittersRCV000415646 RCV000488039 RCV001034662 RCV001821144 RCV002418240 RCV003950330
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)	SNV Germline	Chr9:127818341	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16606222	rs_1057521648	5 SubmittersRCV000421678 RCV000808225 RCV002225104 RCV002392990
NM_005359.6(SMAD4):c.455-8C>T	SNV Germline	Chr18:51054773	Conflicting classifications of pathogenicity	not specified Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA16607947	rs_1057520412	5 SubmittersRCV000429769 RCV000874678 RCV001185750 RCV003996003
NM_005359.6(SMAD4):c.132A>G (p.Val44=)	SNV Germline	Chr18:51047178	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA16607984	rs_965942065	6 SubmittersRCV000475068 RCV001011069 RCV001720151 RCV002318418 RCV004000374
NM_005359.6(SMAD4):c.876G>A (p.Pro292=)	SNV Germline	Chr18:51058428	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965914	rs_753358186	6 SubmittersRCV000435398 RCV000579563 RCV001125428 RCV001125429 RCV001125427 RCV001477273 RCV002374637
NM_005359.6(SMAD4):c.954T>C (p.Pro318=)	SNV Germline	Chr18:51059915	Conflicting classifications of pathogenicity	Condition: not provided Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965958	rs_773615487	5 SubmittersRCV000417972 RCV001019481 RCV001087625 RCV004000472 RCV002429418
NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)	SNV Germline	Chr18:51078300	Conflicting classifications of pathogenicity	not specified Hereditary cancer-predisposing syndrome Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA16608768	rs_1057520520	11 SubmittersRCV000427335 RCV000579788 RCV000679586 RCV001084748 RCV001123417 RCV001123416 RCV001391325 RCV002318979
NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)	SNV Germline	Chr9:127818160	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA500023	rs_1060501421	3 SubmittersRCV000458266 RCV003151063
NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)	SNV Germline	Chr9:127818359	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia ENG-related disorder Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications	CA5252756	rs_141330288	3 SubmittersRCV001084927 RCV003970317 RCV003640900
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)	SNV Germline	Chr9:127824887	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA16612407	rs_1060501419	2 SubmittersRCV000756079 RCV002230338
NM_001114753.3(ENG):c.713T>A (p.Val238Glu)	SNV Germline	Chr9:127825334	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA16612408	rs_1060501415	4 SubmittersRCV000460714 RCV001753879 RCV002365627
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	SNV Germline	Chr9:127824800	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Reviewed By Expert Panel	CA16612528	rs_1060501410	12 SubmittersRCV000462769 RCV000791420 RCV001531114 RCV002379438
NM_001114753.3(ENG):c.524-2A>G	SNV Germline	Chr9:127825862	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA16612599	rs_1060501414	6 SubmittersRCV000458484 RCV001508635 RCV001803764 RCV002348305 RCV003392278
NM_001114753.3(ENG):c.-127C>T	SNV Germline	Chr9:127854482	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16612603	rs_1060501408	9 SubmittersRCV000463117 RCV000756078 RCV001262048 RCV002379437
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)	SNV Germline	Chr9:127817188	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA5252675	rs_781201877	2 SubmittersRCV002261089 RCV003153610
NM_001114753.3(ENG):c.1098C>T (p.Asp366=)	SNV Germline	Chr9:127824340	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252881	rs_201497772	4 SubmittersRCV000471364 RCV001168719 RCV001785621 RCV002455868
NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)	SNV Germline	Chr9:127825795	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications	CA5253079	rs_780987528	2 SubmittersRCV000464848 RCV002481415
NM_001114753.3(ENG):c.360+5G>C	SNV Germline	Chr9:127829682	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16612712	rs_1060501417	3 SubmittersRCV000485643 RCV002230779 RCV002451097
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	SNV Germline	Chr9:127843094	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia not specified See cases Condition: not provided Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1 ENG-related disorder	Criteria Provided Conflicting Classifications	CA5253209	rs_755348996	8 SubmittersRCV000468087 RCV000507266 RCV002225618 RCV002275030 RCV002429496 RCV004000763 RCV004551519
NM_001114753.3(ENG):c.1A>G (p.Met1Val)	SNV Germline	Chr9:127854355	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 not specified Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16612719	rs_1060501418	5 SubmittersRCV000469330 RCV000508379 RCV002230780 RCV002418369
NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)	SNV Germline	Chr12:51916108	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 2 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA16614168	rs_1060503248	10 SubmittersRCV000467491 RCV000488746 RCV001576840 RCV002436455
NM_005359.6(SMAD4):c.1140G>A (p.Arg380=)	SNV Germline	Chr18:51067019	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA16615797	rs_1060504025	5 SubmittersRCV000456222 RCV001017437 RCV002329096 RCV004002041 RCV004999491
NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln)	SNV Germline	Chr18:51054880	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA16616073	rs_770798845	6 SubmittersRCV000474688 RCV000775764 RCV000986026 RCV002319501 RCV004000672
NM_005359.6(SMAD4):c.668-7C>T	SNV Germline	Chr18:51058118	Conflicting classifications of pathogenicity	Condition: not provided Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA16616077	rs_1060504028	4 SubmittersRCV000842150 RCV001079105 RCV002258918 RCV004002045
NM_005359.6(SMAD4):c.870C>T (p.His290=)	SNV Germline	Chr18:51058422	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA16616079	rs_1060504029	5 SubmittersRCV000566853 RCV001394874 RCV002311784 RCV004002046
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)	SNV Germline	Chr18:51078440	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome not specified Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8966110	rs_549489716	9 SubmittersRCV000460479 RCV000564724 RCV000615584 RCV001124521 RCV001124520 RCV001420984 RCV001284065 RCV002311780
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)	SNV Germline	Chr9:127825332	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts	CA16618750	rs_1064794220	3 SubmittersRCV000484671 RCV000526610 RCV002481510
NM_001114753.3(ENG):c.1742-22T>C	SNV Germline	Chr9:127816075	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	No Assertion Criteria Provided	CA467474697	rs_1085307434	1 SubmittersRCV000488489
NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)	SNV Germline	Chr12:51913236	Pathogenic/Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 Condition: not provided Cardiovascular phenotype See cases ACVRL1-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA384897887	rs_1085307405	8 SubmittersRCV000488479 RCV001050243 RCV002244957 RCV002420248 RCV004584390 RCV004551616
NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu)	SNV Germline	Chr12:51914041	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	No Assertion Criteria Provided	CA384899778	rs_886043123	1 SubmittersRCV000488655
NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg)	SNV Germline	Chr12:51914050	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	No Assertion Criteria Provided	CA384899827	rs_1085307407	1 SubmittersRCV000488786
NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly)	SNV Germline	Chr12:51915240	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	No Assertion Criteria Provided	CA384900328	rs_1085307408	1 SubmittersRCV000488626
NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)	SNV Germline	Chr12:51915270	Pathogenic/Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 2 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA384900434	rs_1085307409	4 SubmittersRCV000488783 RCV002431425 RCV003509546 RCV004017643
NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)	SNV Germline	Chr12:51916042	Pathogenic/Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia not specified Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA384901981	rs_1085307415	4 SubmittersRCV000488852 RCV000507211 RCV000525054 RCV002404279
NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)	SNV Germline	Chr12:51916111	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2	Criteria Provided Single Submitter	CA384902433	rs_1085307416	2 SubmittersRCV000488853 RCV000792743
NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)	SNV Germline	Chr12:51916182	Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2	Criteria Provided Single Submitter	CA384902882	rs_1085307418	2 SubmittersRCV000488764 RCV002496883
NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu)	SNV Germline	Chr12:51916183	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	No Assertion Criteria Provided	CA384902886	rs_121909289	1 SubmittersRCV000488470
NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val)	SNV Germline	Chr12:51919018	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia	No Assertion Criteria Provided	CA384903799	rs_1085307420	1 SubmittersRCV000488738
NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)	SNV Germline	Chr12:51919062	Conflicting classifications of pathogenicity	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 Condition: not provided	Criteria Provided Conflicting Classifications	CA384904129	rs_1085307421	3 SubmittersRCV000488495 RCV000814063 RCV001755727
NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)	SNV Germline	Chr12:51920766	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Condition: not provided Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA384905272	rs_1085307422	4 SubmittersRCV000488647 RCV000756968 RCV002527017 RCV002395184
NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)	SNV Germline	Chr12:51920841	Likely pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2	Criteria Provided Single Submitter	CA384905912	rs_1085307428	2 SubmittersRCV000488579 RCV002272257
NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)	SNV Germline	Chr12:51920849	Pathogenic	Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype Condition: not provided Hereditary factor VIII deficiency disease	Reviewed By Expert Panel	CA384906013	rs_1085307429	6 SubmittersRCV000488710 RCV001262033 RCV002395186 RCV003480652 RCV004813103
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)	SNV Germline	Chr9:127820027	Pathogenic/Likely pathogenic	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA374978902	rs_1131691931	3 SubmittersRCV000494433 RCV002455955 RCV002524049
NM_001114753.3(ENG):c.374T>A (p.Val125Asp)	SNV Germline	Chr9:127826659	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA374984418	rs_750115837	2 SubmittersRCV000493483 RCV003593974
NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)	SNV Germline	Chr12:51916122	Pathogenic/Likely pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA384902497	rs_1131691686	8 SubmittersRCV000494459 RCV000554533 RCV002446962 RCV004017648
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	SNV Germline	Chr9:127825722	Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype ENG-related disorder	Reviewed By Expert Panel	CA374983528	rs_1554810378	7 SubmittersRCV000500817 RCV000633131 RCV001565138 RCV002367686 RCV004551628
NM_001114753.3(ENG):c.1686+1G>A	SNV Germline	Chr9:127818119	Pathogenic	not specified Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374973969	rs_1554809228	4 SubmittersRCV000506377 RCV001049940 RCV001786396 RCV002404320
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)	SNV Germline/somatic	Chr9:127819627	Pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374977979	rs_1554809450	6 SubmittersRCV000506337 RCV000512687 RCV001212134 RCV002383980
NM_001114753.3(ENG):c.1273-5C>T	SNV Germline	Chr9:127819665	Conflicting classifications of pathogenicity	not specified Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications	CA5252824	rs_779103881	4 SubmittersRCV000506008 RCV000558143 RCV001168715
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr)	SNV Germline	Chr9:127825320	Conflicting classifications of pathogenicity	not specified Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA5253001	rs_761827492	2 SubmittersRCV000508217 RCV001370738
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	SNV Germline	Chr9:127826522	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA374984114	rs_1554810490	9 SubmittersRCV000534162 RCV000627219 RCV001263082 RCV002341195 RCV004730966
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)	SNV Germline	Chr9:127854315	Pathogenic	not specified Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA374989588	rs_1554813788	2 SubmittersRCV000506963 RCV001377784
NM_001114753.3(ENG):c.220-1G>A	SNV Germline	Chr9:127829828	Pathogenic	not specified Hereditary hemorrhagic telangiectasia ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA374986465	rs_1554810936	3 SubmittersRCV000507915 RCV001217385 RCV004730967
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)	SNV Germline	Chr9:127818818	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374977872	rs_1554809361	3 SubmittersRCV001219462 RCV000523118 RCV002384020
NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)	SNV Germline	Chr9:127819641	Pathogenic	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA374978051	rs_761353511	3 SubmittersRCV000521330 RCV002384003 RCV003758805
NM_001114753.3(ENG):c.67+1G>A	SNV Germline	Chr9:127854288	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374989490	rs_1554813783	7 SubmittersRCV000018155 RCV000521385 RCV001851484 RCV002367727
NM_001114753.3(ENG):c.1311G>C (p.Arg437=)	SNV Germline	Chr9:127819622	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA467227927	rs_1554809448	3 SubmittersRCV002231261 RCV002384068 RCV003480670
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)	SNV Germline	Chr9:127819952	Likely pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts	CA374978426	rs_1554809516	2 SubmittersRCV002231258 RCV005001990
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	SNV Germline	Chr9:127825239	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA374983040	rs_1554810215	6 SubmittersRCV000525562 RCV000757216 RCV002231035
NM_001114753.3(ENG):c.578C>T (p.Thr193Met)	SNV Germline	Chr9:127825806	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA5253082	rs_775442178	2 SubmittersRCV001764537 RCV002231269
NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)	SNV Germline	Chr9:127843192	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5253224	rs_199675436	3 SubmittersRCV000559765 RCV000791352 RCV002367789
NM_001114753.3(ENG):c.1428+2T>A	SNV Germline	Chr9:127818714	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter	CA374976461	rs_863223543	1 SubmittersRCV002231262
NM_001114753.3(ENG):c.1389C>T (p.Ala463=)	SNV Germline	Chr9:127818755	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252793	rs_200168633	3 SubmittersRCV000540792 RCV001167009 RCV002395313
NM_001114753.3(ENG):c.219+1G>A	SNV Germline	Chr9:127843093	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374988833	rs_1554812253	2 SubmittersRCV000547239 RCV002420376
NM_001114753.3(ENG):c.2T>G (p.Met1Arg)	SNV Germline	Chr9:127854354	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Reviewed By Expert Panel	CA374989708	rs_267606783	3 SubmittersRCV000579346 RCV002231266 RCV003989113
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)	SNV Germline	Chr9:127818337	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA5252752	rs_763475207	3 SubmittersRCV000539445 RCV002395314
NM_001114753.3(ENG):c.690-1G>A	SNV Germline	Chr9:127825358	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA374983467	rs_1554810272	2 SubmittersRCV002377025 RCV002231270
NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)	SNV Germline	Chr9:127819937	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374978391	rs_1554809513	2 SubmittersRCV000547986 RCV002367790
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	SNV Germline	Chr9:127824304	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA467230561	rs_1329127701	8 SubmittersRCV000530058 RCV001034649 RCV001545412 RCV002323931 RCV003424095
NM_001114753.3(ENG):c.782G>A (p.Trp261Ter)	SNV Germline	Chr9:127825265	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter	CA374983201	rs_1060501420	1 SubmittersRCV002231033
NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)	SNV Germline	Chr12:51913185	Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 2 Telangiectasia, hereditary hemorrhagic, type 2 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA384897700	rs_1555152468	2 SubmittersRCV000558413 RCV002512113
NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)	SNV Germline	Chr18:51054787	Pathogenic	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA402460591	rs_1555685624	3 SubmittersRCV002231363 RCV002319038 RCV004023833
NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser)	SNV Germline	Chr18:51054964	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965840	rs_757977781	4 SubmittersRCV000548532 RCV000564817 RCV002311854 RCV003999047
NM_005359.6(SMAD4):c.788-9A>C	SNV Germline	Chr18:51058331	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965906	rs_775484792	2 SubmittersRCV000525377 RCV003999048
NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)	SNV Germline	Chr18:51078353	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome not specified Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8966104	rs_760840557	6 SubmittersRCV000530327 RCV000581754 RCV000604219 RCV001123418 RCV001123419 RCV001391329 RCV002314972
NM_005359.6(SMAD4):c.566G>A (p.Arg189His)	SNV Germline	Chr18:51054892	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Condition: not provided Juvenile polyposis syndrome not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965830	rs_759288477	8 SubmittersRCV000579689 RCV000764162 RCV001584257 RCV002231713 RCV002268143 RCV002319530 RCV003999046
NM_005359.6(SMAD4):c.845A>C (p.His282Pro)	SNV Germline	Chr18:51058397	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA402463486	rs_1555685962	6 SubmittersRCV000539961 RCV000580067 RCV001591212 RCV002350217 RCV003999049
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SNV Germline	Chr18:51067098	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Condition: not provided Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8966026	rs_147621330	10 SubmittersRCV000558005 RCV000562603 RCV000764164 RCV001662542 RCV002311850 RCV003476248
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly)	SNV Germline	Chr18:51054805	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA402460631	rs_1555685629	5 SubmittersRCV000557020 RCV000996687 RCV002341293 RCV003999045
NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)	SNV Germline	Chr18:51065506	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965978	rs_747360831	6 SubmittersRCV000555938 RCV001017112 RCV001764550 RCV002231351 RCV002319529 RCV004003803
NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)	SNV Germline	Chr18:51049319	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965791	rs_750355699	5 SubmittersRCV000553373 RCV001328515 RCV002319039 RCV003316697
NM_005359.6(SMAD4):c.298A>C (p.Arg100=)	SNV Germline	Chr18:51048734	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome not specified	Criteria Provided Conflicting Classifications	CA8965766	rs_751154230	6 SubmittersRCV000568563 RCV001126988 RCV001126989 RCV001126990 RCV001479449 RCV002311908 RCV004701667
NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)	SNV Germline	Chr18:51054797	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome not specified Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965822	rs_780716382	7 SubmittersRCV000573873 RCV000705291 RCV000780719 RCV002259353 RCV002311943 RCV004802236
NM_005359.6(SMAD4):c.789C>T (p.Asn263=)	SNV Germline	Chr18:51058341	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8965907	rs_763510526	5 SubmittersRCV000571444 RCV000635500 RCV001124421 RCV001124422 RCV001420983 RCV002311920
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala)	SNV Germline	Chr18:51054990	Conflicting classifications of pathogenicity	Condition: not provided Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome not specified	Criteria Provided Conflicting Classifications	CA8965842	rs_770461626	8 SubmittersRCV000986027 RCV001370742 RCV002311911 RCV003584663 RCV004001082 RCV004800475
NM_005359.6(SMAD4):c.250-2A>G	SNV Germline	Chr18:51048684	Likely pathogenic	Condition: not provided Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA402458160	rs_1555685142	3 SubmittersRCV000578818 RCV002529046 RCV004024594
NM_005359.6(SMAD4):c.1140-11T>A	SNV Germline	Chr18:51067008	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA629926695	rs_1224777335	5 SubmittersRCV000582717 RCV000663204 RCV002061938 RCV003316772
NM_005359.6(SMAD4):c.1263A>G (p.Ala421=)	SNV Germline	Chr18:51067142	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA503874270	rs_1406947861	5 SubmittersRCV000581665 RCV001465404 RCV002315877 RCV003236820 RCV004802272
NM_005359.6(SMAD4):c.424+6T>C	SNV Germline	Chr18:51048866	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8965780	rs_771456293	5 SubmittersRCV000582033 RCV000608629 RCV000806604 RCV004002378 RCV004559247
NM_005359.6(SMAD4):c.756A>G (p.Gly252=)	SNV Germline	Chr18:51058213	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Condition: not provided not specified Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA503993949	rs_1244121412	6 SubmittersRCV000581784 RCV000865944 RCV001537083 RCV002268214 RCV002431734 RCV004002381
NM_001114753.3(ENG):c.1687-1G>T	SNV Germline	Chr9:127817204	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA374973822	rs_1554809106	2 SubmittersRCV000591904 RCV001383868
NM_001114753.3(ENG):c.1742-15G>A	SNV Germline	Chr9:127816068	Conflicting classifications of pathogenicity	not specified Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	CA5252644	rs_201678228	2 SubmittersRCV000616653 RCV001854136
NM_005359.6(SMAD4):c.1308+1G>A	SNV Germline	Chr18:51067188	Pathogenic/Likely pathogenic	Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA402465086	rs_587781618	3 SubmittersRCV002233900 RCV002315231 RCV004025257
NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter)	SNV Germline	Chr9:127818793	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter	CA374977575	rs_1554809355	1 SubmittersRCV002233947
NM_001114753.3(ENG):c.690-5C>T	SNV Germline	Chr9:127825362	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5253017	rs_374628465	3 SubmittersRCV001438451 RCV003479179 RCV004025424
NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)	SNV Germline	Chr9:127825701	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter	CA374983489	rs_1452543778	1 SubmittersRCV002234425
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)	SNV Germline	Chr9:127818825	Likely pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Condition: not provided	Reviewed By Expert Panel	CA374977914	rs_1554809363	6 SubmittersRCV000633145 RCV001285345 RCV002385994 RCV003480725
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln)	SNV Germline	Chr9:127824880	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications	CA5252939	rs_753429934	2 SubmittersRCV000633132 RCV003480724
NM_001114753.3(ENG):c.698C>T (p.Thr233Met)	SNV Germline	Chr9:127825349	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5253010	rs_139767471	2 SubmittersRCV000633133 RCV004992425
NM_001114753.3(ENG):c.1695T>C (p.His565=)	SNV Germline	Chr9:127817195	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252676	rs_750637713	3 SubmittersRCV000633166 RCV001166477 RCV002413814
NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter)	SNV Germline	Chr9:127824414	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter	CA374981709	rs_774429348	1 SubmittersRCV002234421
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)	SNV Germline	Chr9:127824941	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252951	rs_372045549	4 SubmittersRCV000633165 RCV001165467 RCV002292573 RCV002413813
NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)	SNV Germline	Chr18:51076653	Pathogenic	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts	CA402465134	rs_1555687378	2 SubmittersRCV002233982 RCV004802308
NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn)	SNV Germline	Chr18:51058364	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA402463342	rs_1343555503	5 SubmittersRCV001181983 RCV002234499 RCV002420704 RCV003471993
NM_005359.6(SMAD4):c.1308+2T>C	SNV Germline	Chr18:51067189	Pathogenic	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome	Criteria Provided Single Submitter		rs_1555686624	1 SubmittersRCV000662091 RCV000662093 RCV000662092
NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)	SNV Germline	Chr18:51048726	Conflicting classifications of pathogenicity	Heritable Thoracic Aortic Disease Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications		rs_1555685159	3 SubmittersRCV000678041 RCV001261772 RCV001304441
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)	SNV Germline	Chr9:127820003	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1564453619	3 SubmittersRCV002331335 RCV002233161 RCV003411600
NM_001114753.3(ENG):c.991+2T>C	SNV Germline	Chr9:127824798	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1564455554	3 SubmittersRCV002233635 RCV001843954
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)	SNV Germline	Chr9:127824907	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_12042	1 SubmittersRCV000692398
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)	SNV Germline	Chr9:127818221	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 not specified Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_745316066	6 SubmittersRCV000707407 RCV001000404 RCV001816740 RCV001840729 RCV002397490
NM_001114753.3(ENG):c.1311G>T (p.Arg437=)	SNV Germline	Chr9:127819622	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1554809448	1 SubmittersRCV000686208
NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter)	SNV Germline	Chr9:127824960	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_121918400	2 SubmittersRCV002232930 RCV002285403
NM_001114753.3(ENG):c.817-1G>C	SNV Germline	Chr9:127824975	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1564455715	3 SubmittersRCV000694887 RCV001285575 RCV002424652
NM_001114753.3(ENG):c.68-3C>G	SNV Germline	Chr9:127843248	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_773334730	1 SubmittersRCV002233171
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)	SNV Germline	Chr9:127854333	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1564466414	3 SubmittersRCV002232818 RCV002442411 RCV004792371
NM_001114753.3(ENG):c.1A>C (p.Met1Leu)	SNV Germline	Chr9:127854355	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1060501418	1 SubmittersRCV002232923
NM_001114753.3(ENG):c.1852+21C>G	SNV Germline	Chr9:127815922	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia not specified	Criteria Provided Conflicting Classifications		rs_147188969	3 SubmittersRCV000699684 RCV001201352 RCV004800544
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr)	SNV Germline	Chr9:127824423	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_761463410	2 SubmittersRCV000690797 RCV001771949
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)	SNV Germline	Chr9:127825763	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1440769928	1 SubmittersRCV002233534
NM_001114753.3(ENG):c.145G>T (p.Val49Phe)	SNV Germline	Chr9:127843168	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1252348200	5 SubmittersRCV000693521 RCV001766490 RCV002388247 RCV001287705
NM_001114753.3(ENG):c.1429-2A>G	SNV Germline	Chr9:127818379	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1564452759	1 SubmittersRCV002232948
NM_001114753.3(ENG):c.805A>G (p.Met269Val)	SNV Germline	Chr9:127825242	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_1323617205	2 SubmittersRCV002233723 RCV002493252
NM_001114753.3(ENG):c.680A>G (p.His227Arg)	SNV Germline	Chr9:127825704	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_377548944	2 SubmittersRCV002233574 RCV002499244
NM_001114753.3(ENG):c.690-2A>T	SNV Germline	Chr9:127825359	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1564455970	2 SubmittersRCV000728561 RCV001383205
NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys)	SNV Germline	Chr18:51065525	Conflicting classifications of pathogenicity	Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications		rs_377767346	4 SubmittersRCV000734063 RCV001262035 RCV001370335 RCV004993986
NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)	SNV Germline	Chr12:51918987	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_141653630	3 SubmittersRCV000735961 RCV001245321 RCV003353015
NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)	SNV Germline	Chr9:127819624	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1434169817	8 SubmittersRCV000756074 RCV001062873 RCV001726323 RCV002386313
NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)	SNV Germline	Chr9:127824419	Conflicting classifications of pathogenicity	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia ENG-related disorder	Criteria Provided Conflicting Classifications		rs_772135786	4 SubmittersRCV000756076 RCV001262049 RCV002533781 RCV003983196
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	SNV Germline	Chr9:127824892	Pathogenic/Likely pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1335718486	6 SubmittersRCV000757215 RCV001263078 RCV002370008 RCV003594026
NM_001114753.3(ENG):c.687C>T (p.Ala229=)	SNV Germline	Chr9:127825697	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_376919650	3 SubmittersRCV001085370 RCV002360866 RCV003640938
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	SNV Germline	Chr9:127843158	Pathogenic/Likely pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1564462765	5 SubmittersRCV000756077 RCV001262053 RCV002397524 RCV003594025
NM_001114753.3(ENG):c.-188G>A	SNV Germline	Chr9:127854543	Conflicting classifications of pathogenicity	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_961480381	3 SubmittersRCV000756075 RCV001165531 RCV002533118
NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala)	SNV Germline	Chr18:51054978	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Condition: not provided Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications		rs_1345146274	4 SubmittersRCV000774967 RCV003313146 RCV003762875 RCV004001423
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	SNV Germline	Chr18:51076638	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications		rs_1568211172	4 SubmittersRCV001856136 RCV000776864 RCV001262036
NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)	SNV Germline	Chr9:127818122	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1588574749	2 SubmittersRCV000806747 RCV002397646
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)	SNV Germline	Chr9:127818353	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_997074986	1 SubmittersRCV000819516
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser)	SNV Germline	Chr9:127824350	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1588580782	1 SubmittersRCV000819037
NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)	SNV Germline	Chr9:127825232	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1588581785	2 SubmittersRCV000803704 RCV002422749
NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)	SNV Germline	Chr9:127825353	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype ENG-related disorder	Criteria Provided Conflicting Classifications		rs_200372420	5 SubmittersRCV001001189 RCV000808290 RCV002363083 RCV004753049
NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)	SNV Germline	Chr9:127825725	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1588582695	3 SubmittersRCV000807195 RCV001254073 RCV002360987
NM_001114753.3(ENG):c.633C>T (p.Gly211=)	SNV Germline	Chr9:127825751	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_928192105	2 SubmittersRCV000802410 RCV003117593
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)	SNV Germline	Chr9:127825797	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Condition: not provided ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1588582870	4 SubmittersRCV000810183 RCV002352402 RCV004702439 RCV004731040
NM_001114753.3(ENG):c.575G>A (p.Arg192His)	SNV Germline	Chr9:127825809	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1029569378	2 SubmittersRCV000799001 RCV002345775
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	SNV Germline	Chr9:127826510	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1588583488	5 SubmittersRCV000795117 RCV001002467 RCV004721607
NM_001114753.3(ENG):c.314T>A (p.Val105Asp)	SNV Germline	Chr9:127829733	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1588585880	1 SubmittersRCV000824049
NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)	SNV Germline	Chr9:127829767	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1588585941	1 SubmittersRCV000823009
NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)	SNV Germline	Chr9:127829818	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1588585997	2 SubmittersRCV000807334 RCV002453812
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)	SNV Germline	Chr9:127843147	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided See cases	Criteria Provided Multiple Submitters No Conflicts		rs_1588596879	4 SubmittersRCV000817651 RCV001262058 RCV003480867 RCV004797881
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)	SNV Germline	Chr18:51067073	Pathogenic	Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1599196995	3 SubmittersRCV002318896 RCV002235420 RCV004029096
NM_001114753.3(ENG):c.992-2A>G	SNV Germline	Chr9:127824448	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1588580932	4 SubmittersRCV000821165 RCV001263085 RCV001664441
NM_001114753.3(ENG):c.689+1G>A	SNV Germline	Chr9:127825694	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1588582594	2 SubmittersRCV000819340 RCV001262066
NM_001114753.3(ENG):c.991+2T>G	SNV Germline	Chr9:127824798	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1564455554	1 SubmittersRCV000820521
NM_001114753.3(ENG):c.111C>T (p.Pro37=)	SNV Germline	Chr9:127843202	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_755626994	3 SubmittersRCV001169537 RCV001471442 RCV002434114
NM_001114753.3(ENG):c.1135-8C>T	SNV Germline	Chr9:127820045	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_79426098	2 SubmittersRCV000866966 RCV001168718
NM_001114753.3(ENG):c.405C>G (p.Thr135=)	SNV Germline	Chr9:127826628	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications		rs_773521685	4 SubmittersRCV001167063 RCV001434129 RCV002320124 RCV003432932
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)	SNV Germline	Chr9:127825796	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1588582860	2 SubmittersRCV001000381 RCV002549132
NM_001114753.3(ENG):c.360+5G>A	SNV Germline	Chr9:127829682	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1060501417	5 SubmittersRCV001000405 RCV001217648 RCV002454251 RCV003480897
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)	SNV Germline	Chr9:127843126	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1588596830	2 SubmittersRCV001000992 RCV001044486
NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter)	SNV Germline	Chr18:51054831	Pathogenic/Likely pathogenic	Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1449334786	5 SubmittersRCV001387868 RCV002319394 RCV003584798 RCV004030837 RCV004726792
NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu)	SNV Germline	Chr18:51054898	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications		rs_752575871	5 SubmittersRCV001024458 RCV001040401 RCV002327231 RCV003442150 RCV004004650
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)	SNV Germline	Chr9:127818128	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830375228	1 SubmittersRCV001071539
NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)	SNV Germline	Chr9:127818316	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830384447	1 SubmittersRCV001059287
NM_001114753.3(ENG):c.1311G>A (p.Arg437=)	SNV Germline	Chr9:127819622	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1554809448	3 SubmittersRCV001059848 RCV001286216 RCV002379579
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)	SNV Germline	Chr9:127819931	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830432509	1 SubmittersRCV001067548
NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)	SNV Germline	Chr9:127819936	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830432773	1 SubmittersRCV001052196
NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)	SNV Germline	Chr9:127819964	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia not specified Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1830433526	3 SubmittersRCV001058168 RCV001819781 RCV002348428
NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)	SNV Germline	Chr9:127825758	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1243079862	2 SubmittersRCV001057195 RCV002365717
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)	SNV Germline	Chr9:127826539	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830620321	1 SubmittersRCV001059724
NM_001114753.3(ENG):c.293T>A (p.Val98Asp)	SNV Germline	Chr9:127829754	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1830715947	2 SubmittersRCV001040883 RCV002436547
NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter)	SNV Germline	Chr18:51054859	Pathogenic	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_377767331	2 SubmittersRCV001037387 RCV004031028
NM_001114753.3(ENG):c.943G>A (p.Val315Met)	SNV Germline	Chr9:127824848	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided	Criteria Provided Conflicting Classifications		rs_763508329	4 SubmittersRCV001873450 RCV002445377 RCV003640954 RCV004792717
NM_001114753.3(ENG):c.523+1G>C	SNV Germline	Chr9:127826509	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_113930974	3 SubmittersRCV001091125 RCV001862689 RCV002339393
NM_005359.6(SMAD4):c.*1874C>G	SNV Germline	Chr18:51080341	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided	Criteria Provided Conflicting Classifications		rs_761701805	2 SubmittersRCV001122225 RCV001122226 RCV001122227 RCV002511046
NM_005359.6(SMAD4):c.*6522C>T	SNV Germline	Chr18:51084989	Conflicting classifications of pathogenicity	Condition: not provided Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications		rs_183472455	2 SubmittersRCV002275295 RCV001123051 RCV001123052 RCV001123053
NM_005359.6(SMAD4):c.1447+15C>A	SNV Germline	Chr18:51076791	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications		rs_1910484768	2 SubmittersRCV001123415 RCV001123414 RCV001127539 RCV002558220
NM_001114753.3(ENG):c.1852+42C>T	SNV Germline	Chr9:127815901	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia ENG-related disorder	Criteria Provided Conflicting Classifications		rs_779974705	4 SubmittersRCV001169422 RCV001297217 RCV003973123
NM_001114753.3(ENG):c.1258A>G (p.Met420Val)	SNV Germline	Chr9:127819914	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_143724056	2 SubmittersRCV001168716 RCV001234384
NM_001114753.3(ENG):c.9C>T (p.Arg3=)	SNV Germline	Chr9:127854347	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_752431673	3 SubmittersRCV001169538 RCV002379667 RCV001478507
NM_005359.6(SMAD4):c.746A>G (p.Gln249Arg)	SNV Germline	Chr18:51058203	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications		rs_371536364	3 SubmittersRCV001187496 RCV002393430 RCV004803524
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)	SNV Germline	Chr9:127825273	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_537154767	4 SubmittersRCV001221010 RCV001262072
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)	SNV Germline	Chr9:127843154	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_148475405	4 SubmittersRCV001217745 RCV001262055 RCV002402652
NM_001114753.3(ENG):c.806T>G (p.Met269Arg)	SNV Germline	Chr9:127825241	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_752331196	1 SubmittersRCV001206664
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)	SNV Germline	Chr9:127843171	Pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_1831082433	3 SubmittersRCV001206409 RCV001286215 RCV004792793
NM_001114753.3(ENG):c.689+2T>A	SNV Germline	Chr9:127825693	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_863223535	1 SubmittersRCV001206775
NM_001114753.3(ENG):c.360+1G>T	SNV Germline	Chr9:127829686	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_886039505	2 SubmittersRCV001219028 RCV002451499
NM_001114753.3(ENG):c.569T>A (p.Met190Lys)	SNV Germline	Chr9:127825815	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1830602163	3 SubmittersRCV001229612 RCV001508634 RCV002348772
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)	SNV Germline	Chr9:127826591	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_770290260	2 SubmittersRCV002484223 RCV001225657
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)	SNV Germline	Chr9:127825819	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_147792018	2 SubmittersRCV001243876 RCV002348827
NM_001114753.3(ENG):c.1686+5G>A	SNV Germline	Chr9:127818115	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications		rs_1830374353	2 SubmittersRCV001231934 RCV004778017
NM_001114753.3(ENG):c.1311+5G>A	SNV Germline	Chr9:127819617	Likely pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1830423993	2 SubmittersRCV001236499 RCV002225129
NM_001114753.3(ENG):c.8G>A (p.Arg3His)	SNV Germline	Chr9:127854348	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 not specified Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_1588604597	3 SubmittersRCV001253137 RCV002246239 RCV002570525
NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)	SNV Germline	Chr9:127818733	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1830395639	4 SubmittersRCV001263068 RCV002393677 RCV002537646
NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)	SNV Germline	Chr9:127818779	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts		rs_774943840	3 SubmittersRCV001263066 RCV003594125 RCV003481040
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	SNV Germline	Chr9:127824868	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1482440395	4 SubmittersRCV001263079 RCV001880054 RCV002375316 RCV004753257
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	SNV Germline	Chr9:127824895	Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1830569662	2 SubmittersRCV001262076 RCV001880033
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	SNV Germline	Chr9:127825738	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_1830597676	2 SubmittersRCV001262064 RCV002537627
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)	SNV Germline	Chr9:127829719	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1830713927	2 SubmittersRCV001263073 RCV001880053
NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter)	SNV Germline	Chr18:51048739	Pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts		rs_1909619442	2 SubmittersRCV001262037 RCV002447241
NM_001114753.3(ENG):c.-10C>T	SNV Germline	Chr9:127854365	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype ENG-related disorder	Criteria Provided Conflicting Classifications		rs_756994701	5 SubmittersRCV001268056 RCV001880157 RCV002430065 RCV003405477
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	SNV Germline	Chr9:127815988	Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Reviewed By Expert Panel		rs_1830302008	4 SubmittersRCV001289606 RCV002411932 RCV003594127
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	SNV Germline	Chr9:127818161	Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Reviewed By Expert Panel		rs_1830376644	4 SubmittersRCV001289855 RCV003759041
NM_001114753.3(ENG):c.1429-8C>G	SNV Germline	Chr9:127818385	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_376169815	2 SubmittersRCV001286942 RCV003759039
NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)	SNV Germline	Chr9:127819956	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_751787590	2 SubmittersRCV001286121 RCV001871683
NM_001114753.3(ENG):c.707T>A (p.Val236Glu)	SNV Germline	Chr9:127825340	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1588582073	2 SubmittersRCV001297411 RCV002366125
NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)	SNV Germline	Chr9:127843164	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_927607049	2 SubmittersRCV001309474 RCV003485705
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)	SNV Germline	Chr9:127819938	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830432884	1 SubmittersRCV001343795
NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)	SNV Germline	Chr9:127825292	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_2131887851	1 SubmittersRCV001369206
NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)	SNV Germline	Chr9:127829757	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_2131895129	1 SubmittersRCV001377783
NM_005359.6(SMAD4):c.1308+2T>G	SNV Germline	Chr18:51067189	Likely pathogenic	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_1555686624	2 SubmittersRCV001379228 RCV004037636
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)	SNV Germline	Chr9:127817203	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131873923	2 SubmittersRCV001390809 RCV002404909
NM_001114753.3(ENG):c.1687-2A>G	SNV Germline	Chr9:127817205	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_2131873933	1 SubmittersRCV001388266
NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)	SNV Germline	Chr9:127818718	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_965119099	2 SubmittersRCV001388267 RCV002395875
NM_001114753.3(ENG):c.1134G>C (p.Ala378=)	SNV Germline	Chr9:127824304	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1329127701	1 SubmittersRCV001387664
NM_001114753.3(ENG):c.806T>A (p.Met269Lys)	SNV Germline	Chr9:127825241	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_752331196	2 SubmittersRCV001381129 RCV002420857
NM_001114753.3(ENG):c.690-1G>C	SNV Germline	Chr9:127825358	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1554810272	1 SubmittersRCV001388923
NM_001114753.3(ENG):c.523+1G>A	SNV Germline	Chr9:127826509	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_113930974	2 SubmittersRCV001387969 RCV002341830
NM_001114753.3(ENG):c.360+1G>C	SNV Germline	Chr9:127829686	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_886039505	2 SubmittersRCV001390952 RCV002456608
NM_001114753.3(ENG):c.1686+8G>A	SNV Germline	Chr9:127818112	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Condition: not provided not specified	Criteria Provided Conflicting Classifications		rs_372670034	3 SubmittersRCV001429105 RCV004571000 RCV004587155
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)	SNV Germline	Chr9:127825798	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131889336	3 SubmittersRCV001533004 RCV002359157
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)	SNV Germline	Chr9:127825803	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_2131889364	3 SubmittersRCV001756534 RCV002359230 RCV002539874
NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)	SNV Germline	Chr9:127820021	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_2131879350	2 SubmittersRCV001767411 RCV002544078
NM_001114753.3(ENG):c.219+2T>C	SNV Germline	Chr9:127843092	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131918332	3 SubmittersRCV001803568 RCV001885245 RCV002425077
NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)	SNV Germline	Chr9:127824351	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_2131885848	2 SubmittersRCV001802294 RCV002541358
NM_001114753.3(ENG):c.1687-1G>A	SNV Germline	Chr9:127817204	Pathogenic/Likely pathogenic	Condition: not provided Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1554809106	4 SubmittersRCV001806990 RCV002482336 RCV002397756 RCV002541392
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)	SNV Germline	Chr9:127843225	Likely pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1564462834	3 SubmittersRCV001810349 RCV002542422
NM_001114753.3(ENG):c.67+2T>C	SNV Germline	Chr9:127854287	Pathogenic/Likely pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131936480	3 SubmittersRCV001843980 RCV001869863 RCV002361083
NM_001114753.3(ENG):c.1517T>A (p.Leu506His)	SNV Germline	Chr9:127818289	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia ENG-related disorder	Criteria Provided Conflicting Classifications		rs_778594104	2 SubmittersRCV001966153 RCV003408025
NM_005359.6(SMAD4):c.249+1G>T	SNV Germline	Chr18:51047296	Likely pathogenic	Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts		rs_2144402036	2 SubmittersRCV002017822 RCV004046640
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter)	SNV Germline	Chr9:127843164	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_927607049	1 SubmittersRCV001872700
NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)	SNV Germline	Chr9:127829812	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_763992842	2 SubmittersRCV001884462 RCV002449534
NM_001114753.3(ENG):c.219+5G>A	SNV Germline	Chr9:127843089	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1554812252	2 SubmittersRCV001992088 RCV002423216
NM_001114753.3(ENG):c.692C>A (p.Pro231His)	SNV Germline	Chr9:127825355	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_1289232116	2 SubmittersRCV001931162 RCV003167221
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)	SNV Germline	Chr9:127818161	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830376644	1 SubmittersRCV001966971
NM_001114753.3(ENG):c.1429-1G>C	SNV Germline	Chr9:127818378	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_2131876244	1 SubmittersRCV001975130
NM_001114753.3(ENG):c.1312-1G>C	SNV Germline	Chr9:127818833	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131877148	2 SubmittersRCV001980286 RCV002386858
NM_001114753.3(ENG):c.68-18C>A	SNV Germline	Chr9:127843263	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_372807542	1 SubmittersRCV002027402
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)	SNV Germline	Chr9:127819931	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830432509	1 SubmittersRCV002009785
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)	SNV Germline	Chr9:127825765	Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131889169	2 SubmittersRCV002020601 RCV002352744
NM_001114753.3(ENG):c.1134+1G>A	SNV Germline	Chr9:127824303	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_112809381	1 SubmittersRCV001909060
NM_001114753.3(ENG):c.609G>C (p.Leu203Phe)	SNV Germline	Chr9:127825775	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia ENG-related disorder	Criteria Provided Conflicting Classifications		rs_767850408	2 SubmittersRCV002018356 RCV003418339
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg)	SNV Germline	Chr9:127825722	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1554810378	1 SubmittersRCV001901676
NM_001114753.3(ENG):c.991+4A>G	SNV Germline	Chr9:127824796	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131886797	2 SubmittersRCV001979778 RCV002386800
NM_001114753.3(ENG):c.64A>G (p.Thr22Ala)	SNV Germline	Chr9:127854292	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_764472279	2 SubmittersRCV001983824 RCV004045325
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)	SNV Germline	Chr9:127818247	Likely pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_2131875808	2 SubmittersRCV002012464 RCV004990546
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)	SNV Germline	Chr9:127820002	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002331870 RCV003775864 RCV004721049
NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)	SNV Germline	Chr9:127825770	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002360429 RCV003759144
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)	SNV Germline	Chr9:127826510	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002344335 RCV003994427
NM_000020.3(ACVRL1):c.526-7C>G	SNV Germline	Chr12:51913967	Conflicting classifications of pathogenicity	Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 2 Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Conflicting Classifications			4 SubmittersRCV002341050 RCV003096673 RCV003994428 RCV004700731
NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)	SNV Germline	Chr9:127824959	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002412580 RCV003594243
NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)	SNV Germline	Chr9:127824871	Conflicting classifications of pathogenicity	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications			2 SubmittersRCV002371252 RCV003594246
NM_001114753.3(ENG):c.689+1G>T	SNV Germline	Chr9:127825694	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002362284 RCV003103343
NM_001114753.3(ENG):c.95T>A (p.Leu32His)	SNV Germline	Chr9:127843218	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002385295 RCV003103594
NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)	SNV Germline	Chr9:127843156	Pathogenic/Likely pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002405785 RCV003759685
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)	SNV Germline	Chr9:127824801	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV002382786 RCV003759659 RCV004594644
NM_001114753.3(ENG):c.1311+2T>A	SNV Germline	Chr9:127819620	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002385443 RCV003594256
NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter)	SNV Germline	Chr18:51078354	Pathogenic/Likely pathogenic	Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002403263 RCV004059035
NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)	SNV Germline	Chr9:127824435	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002405361 RCV003096932
NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)	SNV Germline	Chr9:127819632	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002380858 RCV003594254
NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)	SNV Germline	Chr9:127829775	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002437473 RCV003594298
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)	SNV Germline	Chr9:127818730	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003062233
NM_001114753.3(ENG):c.1311+2T>C	SNV Germline	Chr9:127819620	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts			3 SubmittersRCV003062234 RCV004594664
NM_001114753.3(ENG):c.932T>G (p.Val311Gly)	SNV Germline	Chr9:127824859	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003062235
NM_001114753.3(ENG):c.1311+1G>A	SNV Germline	Chr9:127819621	Pathogenic/Likely pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003061568 RCV005001348
NM_001114753.3(ENG):c.706G>A (p.Val236Met)	SNV Germline	Chr9:127825341	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV002625890
NM_001114753.3(ENG):c.146T>A (p.Val49Asp)	SNV Germline	Chr9:127843167	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV002820784
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)	SNV Germline	Chr9:127818328	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV002828202
NM_001114753.3(ENG):c.360+2T>C	SNV Germline	Chr9:127829685	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV002835067
NM_001114753.3(ENG):c.-58G>A	SNV Germline	Chr9:127854413	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications			2 SubmittersRCV002922032 RCV004066292
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)	SNV Germline	Chr9:127819958	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003059185
NM_001114753.3(ENG):c.68-2A>T	SNV Germline	Chr9:127843247	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003055698
NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)	SNV Germline	Chr9:127843224	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications			2 SubmittersRCV003594654 RCV003360710
NM_005359.6(SMAD4):c.455-2A>T	SNV Unknown	Chr18:51054779	Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV003463548
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)	SNV Germline	Chr9:127818742	Pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003484561 RCV003594704
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)	SNV Germline	Chr9:127819623	Conflicting classifications of pathogenicity	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications			2 SubmittersRCV004701086 RCV003594863
NM_001114753.3(ENG):c.219+2T>G	SNV Germline	Chr9:127843092	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003593582
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)	SNV Germline	Chr9:127819624	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003593374
NM_001114753.3(ENG):c.816+2T>C	SNV Germline	Chr9:127825229	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003593375
NM_001114753.3(ENG):c.361-11T>A	SNV Germline	Chr9:127826683	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003593376
NM_001114753.3(ENG):c.3G>A (p.Met1Ile)	SNV Germline	Chr9:127854353	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003593379
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)	SNV Germline	Chr9:127819992	Pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003593809
NM_001114753.3(ENG):c.895C>G (p.Leu299Val)	SNV Germline	Chr9:127824896	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003758298
NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)	SNV Germline	Chr9:127819653	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003994637
NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)	SNV Germline	Chr12:51915440	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003994713
NM_005359.6(SMAD4):c.788-1G>C	SNV Unknown	Chr18:51058339	Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004439982
NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys)	SNV Unknown	Chr18:51078467	Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004440080
NM_005359.6(SMAD4):c.788-1G>A	SNV Unknown	Chr18:51058339	Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004440227
NM_005359.6(SMAD4):c.1309-2A>G	SNV Unknown	Chr18:51076636	Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004440419
NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)	SNV Unknown	Chr18:51058211	Pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004442660
NM_005359.6(SMAD4):c.1059C>A (p.Tyr353Ter)	SNV Unknown	Chr18:51065526	Pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Single Submitter			1 SubmittersRCV004589256
NM_001114753.3(ENG):c.987C>G (p.Ser329Arg)	SNV Germline	Chr9:127824804	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV004765083
NM_005359.6(SMAD4):c.745C>A (p.Gln249Lys)	SNV Germline	Chr18:51058202	Conflicting classifications of pathogenicity	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications			2 SubmittersRCV004802709 RCV004994479

NM_000020.3(ACVRL1):c.1232G>A (p.Arg411Gln)

SNV
Germline

Chr12:51916219

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Reviewed By Expert Panel

CA119395

rs_121909284

14 SubmittersRCV000008726 RCV000008727 RCV000522363 RCV002371767

NM_000020.3(ACVRL1):c.1120C>T (p.Arg374Trp)

SNV
Germline

Chr12:51916107

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype
ACVRL1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA119397

rs_28936401

12 SubmittersRCV000008733 RCV000008734 RCV000330901 RCV002433448 RCV004547469

NM_000020.3(ACVRL1):c.1231C>T (p.Arg411Trp)

SNV
Germline

Chr12:51916218

Pathogenic/Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA119402

rs_121909287

9 SubmittersRCV000008738 RCV000008737 RCV000199381 RCV002362571

NM_000020.3(ACVRL1):c.1450C>T (p.Arg484Trp)

SNV
Germline

Chr12:51920831

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
not specified
Pulmonary arterial hypertension
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA119404

rs_121909288

10 SubmittersRCV000008740 RCV000008739 RCV000507762 RCV001003756 RCV001564363 RCV002390099

NM_000020.3(ACVRL1):c.632G>A (p.Gly211Asp)

SNV
Germline

Chr12:51914445

Pathogenic/Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA119406

rs_28936687

3 SubmittersRCV000008741 RCV001001392

NM_000020.3(ACVRL1):c.1031G>A (p.Cys344Tyr)

SNV
Germline

Chr12:51915483

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
See cases
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA119408

rs_28936688

9 SubmittersRCV000008742 RCV000008743 RCV001507809 RCV001844010 RCV002381244

NM_000020.3(ACVRL1):c.1196G>C (p.Trp399Ser)

SNV
Germline

Chr12:51916183

Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Single Submitter

CA119410

rs_121909289

2 SubmittersRCV000008744 RCV002345234

NM_005359.6(SMAD4):c.1081C>T (p.Arg361Cys)

SNV
Germline

Chr18:51065548

Pathogenic/Likely pathogenic

Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
SMAD4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA128095

rs_80338963

10 SubmittersRCV000009071 RCV000009072 RCV000059732 RCV001376609 RCV002311508 RCV003924819

NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)

SNV
Germline

Chr18:51067036

Pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

No Assertion Criteria Provided

CA128103

rs_121912580

1 SubmittersRCV000009074

NM_001204.7(BMPR2):c.1297C>T (p.Gln433Ter)

SNV
Germline

Chr2:202542331

Pathogenic

Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia
Pulmonary hypertension, primary, 1

No Assertion Criteria Provided

CA119941

rs_137852756

2 SubmittersRCV000009367 RCV000488712

NM_001114753.3(ENG):c.831C>G (p.Tyr277Ter)

SNV
Germline

Chr9:127824960

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

CA257566

rs_121918400

2 SubmittersRCV000018148 RCV003593860

NM_001114753.3(ENG):c.360+4A>G

SNV
Germline

Chr9:127829683

Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564457752

5 SubmittersRCV000018151 RCV001851903 RCV004018638 RCV004700247

NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)

SNV
Germline

Chr9:127829687

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA257574

rs_121918402

3 SubmittersRCV000018156 RCV001212827

NM_005359.6(SMAD4):c.403C>T (p.Arg135Ter)

SNV
Germline

Chr18:51048839

Pathogenic

Condition: not provided
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259169

rs_377767326

5 SubmittersRCV001556662 RCV001376608 RCV003162257 RCV003584515 RCV004018652

NM_005359.6(SMAD4):c.533C>G (p.Ser178Ter)

SNV
Germline

Chr18:51054859

Pathogenic/Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA259180

rs_377767331

5 SubmittersRCV001310210 RCV002310632 RCV002288516 RCV004719657

NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)

SNV
Germline

Chr18:51065521

Pathogenic/Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Juvenile polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128090

rs_121912581

5 SubmittersRCV000009075 RCV000059731 RCV001731312

NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)

SNV
Germline

Chr18:51065548

Pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128092

rs_80338963

2 SubmittersRCV002470716 RCV002228051

NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)

SNV
Germline

Chr18:51065549

Pathogenic/Likely pathogenic

Condition: not provided
Juvenile polyposis syndrome
Carcinoma of pancreas
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128097

rs_377767347

6 SubmittersRCV000520995 RCV000635423 RCV000763030 RCV002316201 RCV004018654

NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)

SNV
Germline/somatic

Chr18:51076662

Pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Gallbladder cancer
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Neoplasm

Criteria Provided
Multiple Submitters
No Conflicts

CA189448

rs_377767360

8 SubmittersRCV000023059 RCV000493396 RCV001374448 RCV001376567 RCV002310634 RCV004668739

NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)

SNV
Germline

Chr18:51078306

Pathogenic

Myhre syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Myhre syndrome
Intellectual disability
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Neurodevelopmental delay
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128979

rs_281875322

43 SubmittersRCV000023061 RCV000059733 RCV000635427 RCV000763031 RCV001260808 RCV001249691 RCV001375955 RCV001376590 RCV004558272 RCV004745165 RCV004820822

NM_005359.6(SMAD4):c.1139G>A (p.Arg380Lys)

SNV
Germline

Chr18:51065606

Pathogenic/Likely pathogenic

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA259219

rs_377767353

3 SubmittersRCV001376547 RCV002453278 RCV004018695

NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)

SNV
Germline

Chr18:51078381

Conflicting classifications of pathogenicity

Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Gastrointestinal polyposis
not specified
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA211890

rs_149755320

27 SubmittersRCV000034710 RCV000123259 RCV000148889 RCV000213006 RCV000327173 RCV000383039 RCV000771070 RCV001170612 RCV001420980 RCV002310997

NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys)

SNV
Germline

Chr18:51054891

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
not specified
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA162128

rs_140743238

17 SubmittersRCV000034711 RCV000115884 RCV000122057 RCV000196842 RCV001507132 RCV002310998 RCV003315550

NM_005359.6(SMAD4):c.38A>G (p.Asn13Ser)

SNV
Germline

Chr18:51047084

Conflicting classifications of pathogenicity

Condition: not provided
not specified
Pulmonary hypertension, primary, 1
Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA162125

rs_281875323

11 SubmittersRCV000059736 RCV000122056 RCV000488661 RCV000561032 RCV000662613 RCV001293427 RCV002311543 RCV003315582

NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)

SNV
Germline

Chr18:51078294

Conflicting classifications of pathogenicity

Myhre syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Carcinoma of pancreas
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
SMAD4-related disorder
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Moyamoya angiopathy

Criteria Provided
Conflicting Classifications

CA145285

rs_397518413

28 SubmittersRCV000074360 RCV000160962 RCV000541839 RCV002228175 RCV002311544 RCV002483120 RCV003398656 RCV003584539 RCV004767058 RCV004703205

NM_005359.6(SMAD4):c.424+5G>A

SNV
Germline

Chr18:51048865

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
not specified
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA288122

rs_200772603

19 SubmittersRCV000115883 RCV000204731 RCV000213004 RCV000306889 RCV000346296 RCV000656977 RCV000770696 RCV002311002 RCV002228348 RCV004745191

NM_005359.6(SMAD4):c.880A>G (p.Met294Val)

SNV
Germline

Chr18:51058432

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA162131

rs_7238500

13 SubmittersRCV000122058 RCV000129038 RCV000195767 RCV000586799 RCV001450076 RCV002310678 RCV003315778 RCV003925209

NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser)

SNV
Germline

Chr18:51059908

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA162134

rs_377119288

12 SubmittersRCV000122059 RCV000132146 RCV000411125 RCV000657009 RCV000770697 RCV001358781 RCV002311007 RCV003315779

NM_005359.6(SMAD4):c.1653A>G (p.Leu551=)

SNV
Germline

Chr18:51078461

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
not specified
Condition: not provided
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA186803

rs_199526820

11 SubmittersRCV000123261 RCV000162721 RCV000439984 RCV000858658 RCV001125527 RCV001125528 RCV001450073 RCV002310679 RCV003894971

NM_005359.6(SMAD4):c.575C>T (p.Thr192Ile)

SNV
Germline

Chr18:51054901

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA332848

rs_587780792

10 SubmittersRCV000123263 RCV000236059 RCV000575742 RCV001293440 RCV002312542 RCV003315821 RCV004767081

NM_005359.6(SMAD4):c.671A>T (p.Gln224Leu)

SNV
Germline

Chr18:51058128

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Myhre syndrome
Carcinoma of pancreas
SMAD4-related disorder
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332851

rs_587780793

11 SubmittersRCV000123264 RCV000986028 RCV001358798 RCV002310680 RCV002483236 RCV003422007 RCV003315822 RCV003584556

NM_005359.6(SMAD4):c.1140-10T>C

SNV
Germline

Chr18:51067009

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Myhre syndrome
Carcinoma of pancreas

Criteria Provided
Conflicting Classifications

CA293632

rs_186332162

15 SubmittersRCV000128173 RCV000579485 RCV000586605 RCV001080462 RCV001127535 RCV001127536 RCV001507129 RCV002453458 RCV002492489

NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)

SNV
Germline

Chr18:51065573

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
Isolated thoracic aortic aneurysm
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA167654

rs_139569694

12 SubmittersRCV000131130 RCV000555043 RCV003474774 RCV000679584 RCV002478399 RCV001374834 RCV004525878 RCV002311018

NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)

SNV
Germline

Chr9:127825744

Conflicting classifications of pathogenicity

Haemorrhagic telangiectasia 1
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Pulmonary hypertension, primary, 1
ENG-related disorder

Criteria Provided
Conflicting Classifications

CA211422

rs_150932144

8 SubmittersRCV000148487 RCV000457880 RCV000859971 RCV003298151 RCV000488867 RCV003407567

NM_001114753.3(ENG):c.1273-2A>G

SNV
Germline

Chr9:127819662

Pathogenic/Likely pathogenic

Haemorrhagic telangiectasia 1
Condition: not provided
Hereditary hemorrhagic telangiectasia
not specified
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA211924

rs_373842615

8 SubmittersRCV000149883 RCV000256118 RCV000791417 RCV000508197 RCV000679898 RCV002371992

NM_005359.6(SMAD4):c.677C>T (p.Ala226Val)

SNV
Germline

Chr18:51058134

Conflicting classifications of pathogenicity

Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Hereditary cancer-predisposing syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
SMAD4-related disorder
not specified

Criteria Provided
Conflicting Classifications

CA299961

rs_539739051

13 SubmittersRCV000160959 RCV000199953 RCV000260140 RCV000334040 RCV000449407 RCV000515353 RCV001420989 RCV002312690 RCV003483531 RCV004745224 RCV004782262

NM_005359.6(SMAD4):c.20C>T (p.Thr7Met)

SNV
Germline

Chr18:51047066

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Pulmonary arterial hypertension
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA186263

rs_372316981

15 SubmittersRCV000162438 RCV000196213 RCV000589285 RCV000764159 RCV001123230 RCV001123231 RCV001328507 RCV002285148 RCV002310723 RCV002468936 RCV003398830

NM_005359.6(SMAD4):c.21G>A (p.Thr7=)

SNV
Germline

Chr18:51047067

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA186871

rs_142292491

17 SubmittersRCV000162750 RCV000412290 RCV000760073 RCV001124331 RCV001124332 RCV001450081 RCV002222413 RCV002310727 RCV003927534

NM_005359.6(SMAD4):c.535A>G (p.Ile179Val)

SNV
Germline

Chr18:51054861

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Carcinoma of pancreas
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA193193

rs_542392980

11 SubmittersRCV000165366 RCV000236451 RCV000233612 RCV000764161 RCV001293445 RCV002311026 RCV002470782

NM_005359.6(SMAD4):c.743A>T (p.Gln248Leu)

SNV
Germline

Chr18:51058200

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder
Juvenile polyposis syndrome

Criteria Provided
Conflicting Classifications

CA191787

rs_751985298

10 SubmittersRCV000164798 RCV000196374 RCV001508829 RCV003316029 RCV002310740 RCV004724956 RCV001328522

NM_005359.6(SMAD4):c.852A>G (p.Gln284=)

SNV
Germline

Chr18:51058404

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
not specified
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis/juvenile polyposis coli
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA186319

rs_144378484

13 SubmittersRCV000162465 RCV000200571 RCV000417748 RCV000589728 RCV001124423 RCV001124424 RCV001450056 RCV002310724 RCV003330520

NM_005359.6(SMAD4):c.875C>T (p.Pro292Leu)

SNV
Germline

Chr18:51058427

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Nephroblastoma
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA188612

rs_786201404

7 SubmittersRCV000163557 RCV000469746 RCV000761013 RCV001589026 RCV002310731 RCV003474849

NM_005359.6(SMAD4):c.1046C>T (p.Thr349Ile)

SNV
Germline

Chr18:51065513

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA191266

rs_564408927

8 SubmittersRCV000164559 RCV000197959 RCV001328514 RCV001770124 RCV002310736 RCV003316025

NM_005359.6(SMAD4):c.1248A>G (p.Arg416=)

SNV
Germline

Chr18:51067127

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA193006

rs_786202472

6 SubmittersRCV000412222 RCV001446529 RCV002311024 RCV003316041 RCV003477615

NM_005359.6(SMAD4):c.521C>A (p.Thr174Asn)

SNV
Germline

Chr18:51054847

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA334504

rs_138800446

10 SubmittersRCV000168261 RCV000236619 RCV000567416 RCV001312225 RCV002281990 RCV002312698 RCV003316069

NM_001114753.3(ENG):c.1572C>T (p.Pro524=)

SNV
Germline

Chr9:127818234

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA239724

rs_760682477

3 SubmittersRCV000174219 RCV000633153 RCV003298214

NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter)

SNV
Germline

Chr9:127817175

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA322673

rs_863223539

5 SubmittersRCV000198174 RCV000553924 RCV002408863 RCV004752789

NM_001114753.3(ENG):c.1586G>A (p.Arg529His)

SNV
Germline

Chr9:127818220

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Cardiovascular phenotype
ENG-related disorder

Reviewed By Expert Panel

CA321073

rs_863223538

8 SubmittersRCV000791433 RCV000229345 RCV000755259 RCV002399723 RCV003907720

NM_001114753.3(ENG):c.1428+2T>C

SNV
Germline

Chr9:127818714

Pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA325022

rs_863223543

3 SubmittersRCV000200447 RCV002390515 RCV001853140

NM_001114753.3(ENG):c.1428+1G>A

SNV
Germline

Chr9:127818715

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA322731

rs_863223542

6 SubmittersRCV000198224 RCV000551278 RCV001286561 RCV002390514

NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter)

SNV
Germline

Chr9:127818832

Pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA322837

rs_863223536

3 SubmittersRCV000198335 RCV002381667 RCV001056962

NM_001114753.3(ENG):c.562C>T (p.Gln188Ter)

SNV
Germline

Chr9:127825822

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA324406

rs_863223537

4 SubmittersRCV000199857 RCV000702018 RCV002345703

NM_001114753.3(ENG):c.247C>T (p.Gln83Ter)

SNV
Germline

Chr9:127829800

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA322606

rs_863223532

6 SubmittersRCV000198121 RCV000695516 RCV002453717

NM_000020.3(ACVRL1):c.998G>T (p.Ser333Ile)

SNV
Germline

Chr12:51915450

Pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Reviewed By Expert Panel

CA322708

rs_863223413

8 SubmittersRCV000198205 RCV000762899 RCV002381661 RCV004767134

NM_000020.3(ACVRL1):c.1377+1G>A

SNV
Germline

Chr12:51919116

Pathogenic/Likely pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA322270

rs_863223406

6 SubmittersRCV000197808 RCV000689218 RCV002381659 RCV003993880

NM_000020.3(ACVRL1):c.1451G>A (p.Arg484Gln)

SNV
Germline

Chr12:51920832

Pathogenic

Condition: not provided
Epistaxis
Pulmonary arterial hypertension
Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
not specified
Pulmonary arterial hypertension
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA323134

rs_863223408

9 SubmittersRCV000198604 RCV000414952 RCV000502469 RCV000488871 RCV000506673 RCV001003757 RCV002390510

NM_005359.6(SMAD4):c.-9C>G

SNV
Germline

Chr18:51047038

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA349010

rs_864622289

2 SubmittersRCV000204818 RCV004804840

NM_001114753.3(ENG):c.596G>A (p.Arg199His)

SNV
Germline

Chr9:127825788

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5253073

rs_548424658

3 SubmittersRCV000211433 RCV000859173 RCV002262803

NM_005359.6(SMAD4):c.736C>A (p.Pro246Thr)

SNV
Germline

Chr18:51058193

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Early age onset of sporadic thoracic aortic dissections
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Heritable Thoracic Aortic Disease
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA10580980

rs_876659967

8 SubmittersRCV000220373 RCV001261774 RCV001762494 RCV001124420 RCV000689822 RCV001123336 RCV000678043 RCV001312210 RCV002311325

NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)

SNV
Germline

Chr9:127826586

Pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided
See cases
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1
ENG-related disorder

Reviewed By Expert Panel

CA10582615

rs_878853657

9 SubmittersRCV000231233 RCV000427340 RCV002223199 RCV002327101 RCV002494618 RCV003422129

NM_001114753.3(ENG):c.219+22C>T

SNV
Germline

Chr9:127843072

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
not specified
Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5253205

rs_370257876

5 SubmittersRCV000227257 RCV000454889 RCV001513011 RCV003389736

NM_001114753.3(ENG):c.68-1G>A

SNV
Germline

Chr9:127843246

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10582616

rs_878853659

4 SubmittersRCV000232191 RCV000578937 RCV001388235 RCV002365173

NM_005359.6(SMAD4):c.342T>C (p.Tyr114=)

SNV
Germline

Chr18:51048778

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
not specified
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA8965768

rs_757211048

6 SubmittersRCV000227775 RCV000441778 RCV000571677 RCV001126991 RCV001126992 RCV001450080 RCV002311351

NM_005359.6(SMAD4):c.554C>T (p.Pro185Leu)

SNV
Germline

Chr18:51054880

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8965829

rs_770798845

6 SubmittersRCV000227385 RCV000572439 RCV002311352 RCV003475828 RCV003479073

NM_005359.6(SMAD4):c.884C>T (p.Pro295Leu)

SNV
Germline

Chr18:51058436

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8965916

rs_370176106

7 SubmittersRCV000234236 RCV000479945 RCV000576051 RCV002311353 RCV003475829 RCV004586645

NM_005359.6(SMAD4):c.1644A>G (p.Pro548=)

SNV
Germline

Chr18:51078452

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
not specified
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
SMAD4-related disorder
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided

Criteria Provided
Conflicting Classifications

CA8966112

rs_756795016

9 SubmittersRCV000226180 RCV000287385 RCV000340035 RCV000613346 RCV000573053 RCV001450069 RCV003967648 RCV002311349 RCV003326381

NM_001114753.3(ENG):c.360+1G>A

SNV
Germline

Chr9:127829686

Pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10588467

rs_886039505

10 SubmittersRCV000255227 RCV000274164 RCV001034674 RCV002450790

NM_001114753.3(ENG):c.277C>T (p.Arg93Ter)

SNV
Germline

Chr9:127829770

Pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10588468

rs_886039506

10 SubmittersRCV000255761 RCV000545627 RCV000791375 RCV001003750 RCV002436090

NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)

SNV
Germline

Chr9:127825231

Pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA10603083

rs_886041326

3 SubmittersRCV000391772 RCV002418102 RCV003593947

NM_001114753.3(ENG):c.322C>T (p.His108Tyr)

SNV
Germline

Chr9:127829725

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5253160

rs_756897517

4 SubmittersRCV000396856 RCV001373160 RCV002058772 RCV004022107

NM_001114753.3(ENG):c.1806C>T (p.Ile602=)

SNV
Germline

Chr9:127815989

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Juvenile Polyposis
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5252624

rs_373002544

3 SubmittersRCV000313397 RCV000370434 RCV000867486 RCV002411264

NM_001114753.3(ENG):c.900G>A (p.Leu300=)

SNV
Germline

Chr9:127824891

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5252944

rs_140155568

3 SubmittersRCV000293976 RCV001494202 RCV004619279

NM_001114753.3(ENG):c.321G>T (p.Leu107=)

SNV
Germline

Chr9:127829726

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5253161

rs_767907933

3 SubmittersRCV000298103 RCV000916437 RCV002058773

NM_001114753.3(ENG):c.220-6C>A

SNV
Germline

Chr9:127829833

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA5253184

rs_756342212

2 SubmittersRCV000262783 RCV001861340

NM_001114753.3(ENG):c.-63C>T

SNV
Germline

Chr9:127854418

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA10632662

rs_886063476

2 SubmittersRCV000285725 RCV003593951

NM_001114753.3(ENG):c.-115G>C

SNV
Germline

Chr9:127854470

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA10632669

rs_546892762

2 SubmittersRCV000393275 RCV001861341

NM_005359.6(SMAD4):c.667+3G>A

SNV
Germline

Chr18:51054996

Conflicting classifications of pathogenicity

Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA8965852

rs_757971589

8 SubmittersRCV000263575 RCV000358363 RCV000571451 RCV000635437 RCV001328519 RCV001711942 RCV002314055

NM_005359.6(SMAD4):c.-128+12A>G

SNV
Germline

Chr18:51030635

Conflicting classifications of pathogenicity

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
not specified

Criteria Provided
Conflicting Classifications

CA10651749

rs_886053891

2 SubmittersRCV000267847 RCV000307763 RCV000362423 RCV000613032

NM_005359.6(SMAD4):c.249+10A>C

SNV
Germline

Chr18:51047305

Conflicting classifications of pathogenicity

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
not specified
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome

Criteria Provided
Conflicting Classifications

CA8965744

rs_752243771

6 SubmittersRCV000295030 RCV000389254 RCV000409679 RCV000427458 RCV000771622 RCV001450078

NM_005359.6(SMAD4):c.*30A>C

SNV
Germline

Chr18:51078497

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome

Criteria Provided
Conflicting Classifications

CA8966118

rs_767288576

1 SubmittersRCV000298729 RCV000369760 RCV000399233

NM_005359.6(SMAD4):c.*1067G>A

SNV
Germline

Chr18:51079534

Conflicting classifications of pathogenicity

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA10651763

rs_542839921

2 SubmittersRCV000261227 RCV000319786 RCV000372257 RCV003422294

NM_000020.3(ACVRL1):c.1435C>T (p.Arg479Ter)

SNV
Germline/somatic

Chr12:51920816

Pathogenic

Condition: not provided
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16042853

rs_1057517944

12 SubmittersRCV000414291 RCV000488776 RCV000513497 RCV000533545 RCV002392938 RCV003993947

NM_001114753.3(ENG):c.7C>T (p.Arg3Cys)

SNV
Germline

Chr9:127854349

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Hereditary hemorrhagic telangiectasia
not specified
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Conflicting Classifications

CA5253268

rs_139334561

10 SubmittersRCV000415646 RCV000488039 RCV001034662 RCV001821144 RCV002418240 RCV003950330

NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter)

SNV
Germline

Chr9:127818341

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16606222

rs_1057521648

5 SubmittersRCV000421678 RCV000808225 RCV002225104 RCV002392990

NM_005359.6(SMAD4):c.455-8C>T

SNV
Germline

Chr18:51054773

Conflicting classifications of pathogenicity

not specified
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16607947

rs_1057520412

5 SubmittersRCV000429769 RCV000874678 RCV001185750 RCV003996003

NM_005359.6(SMAD4):c.132A>G (p.Val44=)

SNV
Germline

Chr18:51047178

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16607984

rs_965942065

6 SubmittersRCV000475068 RCV001011069 RCV001720151 RCV002318418 RCV004000374

NM_005359.6(SMAD4):c.876G>A (p.Pro292=)

SNV
Germline

Chr18:51058428

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA8965914

rs_753358186

6 SubmittersRCV000435398 RCV000579563 RCV001125428 RCV001125429 RCV001125427 RCV001477273 RCV002374637

NM_005359.6(SMAD4):c.954T>C (p.Pro318=)

SNV
Germline

Chr18:51059915

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA8965958

rs_773615487

5 SubmittersRCV000417972 RCV001019481 RCV001087625 RCV004000472 RCV002429418

NM_005359.6(SMAD4):c.1492T>C (p.Leu498=)

SNV
Germline

Chr18:51078300

Conflicting classifications of pathogenicity

not specified
Hereditary cancer-predisposing syndrome
Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA16608768

rs_1057520520

11 SubmittersRCV000427335 RCV000579788 RCV000679586 RCV001084748 RCV001123417 RCV001123416 RCV001391325 RCV002318979

NM_001114753.3(ENG):c.1646G>A (p.Cys549Tyr)

SNV
Germline

Chr9:127818160

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA500023

rs_1060501421

3 SubmittersRCV000458266 RCV003151063

NM_001114753.3(ENG):c.1447G>A (p.Val483Ile)

SNV
Germline

Chr9:127818359

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
ENG-related disorder
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

CA5252756

rs_141330288

3 SubmittersRCV001084927 RCV003970317 RCV003640900

NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)

SNV
Germline

Chr9:127824887

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16612407

rs_1060501419

2 SubmittersRCV000756079 RCV002230338

NM_001114753.3(ENG):c.713T>A (p.Val238Glu)

SNV
Germline

Chr9:127825334

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA16612408

rs_1060501415

4 SubmittersRCV000460714 RCV001753879 RCV002365627

NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)

SNV
Germline

Chr9:127824800

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Reviewed By Expert Panel

CA16612528

rs_1060501410

12 SubmittersRCV000462769 RCV000791420 RCV001531114 RCV002379438

NM_001114753.3(ENG):c.524-2A>G

SNV
Germline

Chr9:127825862

Pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA16612599

rs_1060501414

6 SubmittersRCV000458484 RCV001508635 RCV001803764 RCV002348305 RCV003392278

NM_001114753.3(ENG):c.-127C>T

SNV
Germline

Chr9:127854482

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16612603

rs_1060501408

9 SubmittersRCV000463117 RCV000756078 RCV001262048 RCV002379437

NM_001114753.3(ENG):c.1702G>A (p.Val568Ile)

SNV
Germline

Chr9:127817188

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA5252675

rs_781201877

2 SubmittersRCV002261089 RCV003153610

NM_001114753.3(ENG):c.1098C>T (p.Asp366=)

SNV
Germline

Chr9:127824340

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5252881

rs_201497772

4 SubmittersRCV000471364 RCV001168719 RCV001785621 RCV002455868

NM_001114753.3(ENG):c.589C>T (p.Arg197Trp)

SNV
Germline

Chr9:127825795

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

CA5253079

rs_780987528

2 SubmittersRCV000464848 RCV002481415

NM_001114753.3(ENG):c.360+5G>C

SNV
Germline

Chr9:127829682

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16612712

rs_1060501417

3 SubmittersRCV000485643 RCV002230779 RCV002451097

NM_001114753.3(ENG):c.219G>A (p.Thr73=)

SNV
Germline

Chr9:127843094

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
not specified
See cases
Condition: not provided
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1
ENG-related disorder

Criteria Provided
Conflicting Classifications

CA5253209

rs_755348996

8 SubmittersRCV000468087 RCV000507266 RCV002225618 RCV002275030 RCV002429496 RCV004000763 RCV004551519

NM_001114753.3(ENG):c.1A>G (p.Met1Val)

SNV
Germline

Chr9:127854355

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
not specified
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16612719

rs_1060501418

5 SubmittersRCV000469330 RCV000508379 RCV002230780 RCV002418369

NM_000020.3(ACVRL1):c.1121G>A (p.Arg374Gln)

SNV
Germline

Chr12:51916108

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 2
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA16614168

rs_1060503248

10 SubmittersRCV000467491 RCV000488746 RCV001576840 RCV002436455

NM_005359.6(SMAD4):c.1140G>A (p.Arg380=)

SNV
Germline

Chr18:51067019

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided

Criteria Provided
Conflicting Classifications

CA16615797

rs_1060504025

5 SubmittersRCV000456222 RCV001017437 RCV002329096 RCV004002041 RCV004999491

NM_005359.6(SMAD4):c.554C>A (p.Pro185Gln)

SNV
Germline

Chr18:51054880

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16616073

rs_770798845

6 SubmittersRCV000474688 RCV000775764 RCV000986026 RCV002319501 RCV004000672

NM_005359.6(SMAD4):c.668-7C>T

SNV
Germline

Chr18:51058118

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16616077

rs_1060504028

4 SubmittersRCV000842150 RCV001079105 RCV002258918 RCV004002045

NM_005359.6(SMAD4):c.870C>T (p.His290=)

SNV
Germline

Chr18:51058422

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA16616079

rs_1060504029

5 SubmittersRCV000566853 RCV001394874 RCV002311784 RCV004002046

NM_005359.6(SMAD4):c.1632G>A (p.Pro544=)

SNV
Germline

Chr18:51078440

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
not specified
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8966110

rs_549489716

9 SubmittersRCV000460479 RCV000564724 RCV000615584 RCV001124521 RCV001124520 RCV001420984 RCV001284065 RCV002311780

NM_001114753.3(ENG):c.715G>T (p.Glu239Ter)

SNV
Germline

Chr9:127825332

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA16618750

rs_1064794220

3 SubmittersRCV000484671 RCV000526610 RCV002481510

NM_001114753.3(ENG):c.1742-22T>C

SNV
Germline

Chr9:127816075

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

No Assertion Criteria Provided

CA467474697

rs_1085307434

1 SubmittersRCV000488489

NM_000020.3(ACVRL1):c.199C>T (p.Arg67Trp)

SNV
Germline

Chr12:51913236

Pathogenic/Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided
Cardiovascular phenotype
See cases
ACVRL1-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA384897887

rs_1085307405

8 SubmittersRCV000488479 RCV001050243 RCV002244957 RCV002420248 RCV004584390 RCV004551616

NM_000020.3(ACVRL1):c.593T>A (p.Val198Glu)

SNV
Germline

Chr12:51914041

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

No Assertion Criteria Provided

CA384899778

rs_886043123

1 SubmittersRCV000488655

NM_000020.3(ACVRL1):c.602A>G (p.Gln201Arg)

SNV
Germline

Chr12:51914050

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

No Assertion Criteria Provided

CA384899827

rs_1085307407

1 SubmittersRCV000488786

NM_000020.3(ACVRL1):c.788A>G (p.Asp263Gly)

SNV
Germline

Chr12:51915240

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

No Assertion Criteria Provided

CA384900328

rs_1085307408

1 SubmittersRCV000488626

NM_000020.3(ACVRL1):c.818T>C (p.Leu273Pro)

SNV
Germline

Chr12:51915270

Pathogenic/Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA384900434

rs_1085307409

4 SubmittersRCV000488783 RCV002431425 RCV003509546 RCV004017643

NM_000020.3(ACVRL1):c.1055C>A (p.Ala352Asp)

SNV
Germline

Chr12:51916042

Pathogenic/Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
not specified
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA384901981

rs_1085307415

4 SubmittersRCV000488852 RCV000507211 RCV000525054 RCV002404279

NM_000020.3(ACVRL1):c.1124A>G (p.Tyr375Cys)

SNV
Germline

Chr12:51916111

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2

Criteria Provided
Single Submitter

CA384902433

rs_1085307416

2 SubmittersRCV000488853 RCV000792743

NM_000020.3(ACVRL1):c.1195T>C (p.Trp399Arg)

SNV
Germline

Chr12:51916182

Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2

Criteria Provided
Single Submitter

CA384902882

rs_1085307418

2 SubmittersRCV000488764 RCV002496883

NM_000020.3(ACVRL1):c.1196G>T (p.Trp399Leu)

SNV
Germline

Chr12:51916183

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

No Assertion Criteria Provided

CA384902886

rs_121909289

1 SubmittersRCV000488470

NM_000020.3(ACVRL1):c.1280A>T (p.Asp427Val)

SNV
Germline

Chr12:51919018

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia

No Assertion Criteria Provided

CA384903799

rs_1085307420

1 SubmittersRCV000488738

NM_000020.3(ACVRL1):c.1324G>A (p.Val442Met)

SNV
Germline

Chr12:51919062

Conflicting classifications of pathogenicity

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Condition: not provided

Criteria Provided
Conflicting Classifications

CA384904129

rs_1085307421

3 SubmittersRCV000488495 RCV000814063 RCV001755727

NM_000020.3(ACVRL1):c.1385C>G (p.Ser462Ter)

SNV
Germline

Chr12:51920766

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA384905272

rs_1085307422

4 SubmittersRCV000488647 RCV000756968 RCV002527017 RCV002395184

NM_000020.3(ACVRL1):c.1460A>C (p.Lys487Thr)

SNV
Germline

Chr12:51920841

Likely pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2

Criteria Provided
Single Submitter

CA384905912

rs_1085307428

2 SubmittersRCV000488579 RCV002272257

NM_000020.3(ACVRL1):c.1468C>T (p.Gln490Ter)

SNV
Germline

Chr12:51920849

Pathogenic

Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Condition: not provided
Hereditary factor VIII deficiency disease

Reviewed By Expert Panel

CA384906013

rs_1085307429

6 SubmittersRCV000488710 RCV001262033 RCV002395186 RCV003480652 RCV004813103

NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)

SNV
Germline

Chr9:127820027

Pathogenic/Likely pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA374978902

rs_1131691931

3 SubmittersRCV000494433 RCV002455955 RCV002524049

NM_001114753.3(ENG):c.374T>A (p.Val125Asp)

SNV
Germline

Chr9:127826659

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA374984418

rs_750115837

2 SubmittersRCV000493483 RCV003593974

NM_000020.3(ACVRL1):c.1135G>A (p.Glu379Lys)

SNV
Germline

Chr12:51916122

Pathogenic/Likely pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA384902497

rs_1131691686

8 SubmittersRCV000494459 RCV000554533 RCV002446962 RCV004017648

NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)

SNV
Germline

Chr9:127825722

Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype
ENG-related disorder

Reviewed By Expert Panel

CA374983528

rs_1554810378

7 SubmittersRCV000500817 RCV000633131 RCV001565138 RCV002367686 RCV004551628

NM_001114753.3(ENG):c.1686+1G>A

SNV
Germline

Chr9:127818119

Pathogenic

not specified
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374973969

rs_1554809228

4 SubmittersRCV000506377 RCV001049940 RCV001786396 RCV002404320

NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter)

SNV
Germline/somatic

Chr9:127819627

Pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374977979

rs_1554809450

6 SubmittersRCV000506337 RCV000512687 RCV001212134 RCV002383980

NM_001114753.3(ENG):c.1273-5C>T

SNV
Germline

Chr9:127819665

Conflicting classifications of pathogenicity

not specified
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

CA5252824

rs_779103881

4 SubmittersRCV000506008 RCV000558143 RCV001168715

NM_001114753.3(ENG):c.727G>A (p.Ala243Thr)

SNV
Germline

Chr9:127825320

Conflicting classifications of pathogenicity

not specified
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA5253001

rs_761827492

2 SubmittersRCV000508217 RCV001370738

NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)

SNV
Germline

Chr9:127826522

Pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA374984114

rs_1554810490

9 SubmittersRCV000534162 RCV000627219 RCV001263082 RCV002341195 RCV004730966

NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)

SNV
Germline

Chr9:127854315

Pathogenic

not specified
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA374989588

rs_1554813788

2 SubmittersRCV000506963 RCV001377784

NM_001114753.3(ENG):c.220-1G>A

SNV
Germline

Chr9:127829828

Pathogenic

not specified
Hereditary hemorrhagic telangiectasia
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA374986465

rs_1554810936

3 SubmittersRCV000507915 RCV001217385 RCV004730967

NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)

SNV
Germline

Chr9:127818818

Pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374977872

rs_1554809361

3 SubmittersRCV001219462 RCV000523118 RCV002384020

NM_001114753.3(ENG):c.1292C>A (p.Ser431Ter)

SNV
Germline

Chr9:127819641

Pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA374978051

rs_761353511

3 SubmittersRCV000521330 RCV002384003 RCV003758805

NM_001114753.3(ENG):c.67+1G>A

SNV
Germline

Chr9:127854288

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374989490

rs_1554813783

7 SubmittersRCV000018155 RCV000521385 RCV001851484 RCV002367727

NM_001114753.3(ENG):c.1311G>C (p.Arg437=)

SNV
Germline

Chr9:127819622

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

CA467227927

rs_1554809448

3 SubmittersRCV002231261 RCV002384068 RCV003480670

NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn)

SNV
Germline

Chr9:127819952

Likely pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

CA374978426

rs_1554809516

2 SubmittersRCV002231258 RCV005001990

NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)

SNV
Germline

Chr9:127825239

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA374983040

rs_1554810215

6 SubmittersRCV000525562 RCV000757216 RCV002231035

NM_001114753.3(ENG):c.578C>T (p.Thr193Met)

SNV
Germline

Chr9:127825806

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA5253082

rs_775442178

2 SubmittersRCV001764537 RCV002231269

NM_001114753.3(ENG):c.121G>A (p.Glu41Lys)

SNV
Germline

Chr9:127843192

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5253224

rs_199675436

3 SubmittersRCV000559765 RCV000791352 RCV002367789

NM_001114753.3(ENG):c.1428+2T>A

SNV
Germline

Chr9:127818714

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

CA374976461

rs_863223543

1 SubmittersRCV002231262

NM_001114753.3(ENG):c.1389C>T (p.Ala463=)

SNV
Germline

Chr9:127818755

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5252793

rs_200168633

3 SubmittersRCV000540792 RCV001167009 RCV002395313

NM_001114753.3(ENG):c.219+1G>A

SNV
Germline

Chr9:127843093

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374988833

rs_1554812253

2 SubmittersRCV000547239 RCV002420376

NM_001114753.3(ENG):c.2T>G (p.Met1Arg)

SNV
Germline

Chr9:127854354

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Reviewed By Expert Panel

CA374989708

rs_267606783

3 SubmittersRCV000579346 RCV002231266 RCV003989113

NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser)

SNV
Germline

Chr9:127818337

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA5252752

rs_763475207

3 SubmittersRCV000539445 RCV002395314

NM_001114753.3(ENG):c.690-1G>A

SNV
Germline

Chr9:127825358

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA374983467

rs_1554810272

2 SubmittersRCV002377025 RCV002231270

NM_001114753.3(ENG):c.1235G>A (p.Cys412Tyr)

SNV
Germline

Chr9:127819937

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374978391

rs_1554809513

2 SubmittersRCV000547986 RCV002367790

NM_001114753.3(ENG):c.1134G>A (p.Ala378=)

SNV
Germline

Chr9:127824304

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA467230561

rs_1329127701

8 SubmittersRCV000530058 RCV001034649 RCV001545412 RCV002323931 RCV003424095

NM_001114753.3(ENG):c.782G>A (p.Trp261Ter)

SNV
Germline

Chr9:127825265

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

CA374983201

rs_1060501420

1 SubmittersRCV002231033

NM_000020.3(ACVRL1):c.148T>C (p.Trp50Arg)

SNV
Germline

Chr12:51913185

Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 2
Telangiectasia, hereditary hemorrhagic, type 2
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA384897700

rs_1555152468

2 SubmittersRCV000558413 RCV002512113

NM_005359.6(SMAD4):c.461C>G (p.Ser154Ter)

SNV
Germline

Chr18:51054787

Pathogenic

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA402460591

rs_1555685624

3 SubmittersRCV002231363 RCV002319038 RCV004023833

NM_005359.6(SMAD4):c.638A>G (p.Asn213Ser)

SNV
Germline

Chr18:51054964

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965840

rs_757977781

4 SubmittersRCV000548532 RCV000564817 RCV002311854 RCV003999047

NM_005359.6(SMAD4):c.788-9A>C

SNV
Germline

Chr18:51058331

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965906

rs_775484792

2 SubmittersRCV000525377 RCV003999048

NM_005359.6(SMAD4):c.1545A>G (p.Arg515=)

SNV
Germline

Chr18:51078353

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Hereditary cancer-predisposing syndrome
not specified
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8966104

rs_760840557

6 SubmittersRCV000530327 RCV000581754 RCV000604219 RCV001123418 RCV001123419 RCV001391329 RCV002314972

NM_005359.6(SMAD4):c.566G>A (p.Arg189His)

SNV
Germline

Chr18:51054892

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Condition: not provided
Juvenile polyposis syndrome
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965830

rs_759288477

8 SubmittersRCV000579689 RCV000764162 RCV001584257 RCV002231713 RCV002268143 RCV002319530 RCV003999046

NM_005359.6(SMAD4):c.845A>C (p.His282Pro)

SNV
Germline

Chr18:51058397

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA402463486

rs_1555685962

6 SubmittersRCV000539961 RCV000580067 RCV001591212 RCV002350217 RCV003999049

NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)

SNV
Germline

Chr18:51067098

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Condition: not provided
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8966026

rs_147621330

10 SubmittersRCV000558005 RCV000562603 RCV000764164 RCV001662542 RCV002311850 RCV003476248

NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly)

SNV
Germline

Chr18:51054805

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA402460631

rs_1555685629

5 SubmittersRCV000557020 RCV000996687 RCV002341293 RCV003999045

NM_005359.6(SMAD4):c.1039A>G (p.Ile347Val)

SNV
Germline

Chr18:51065506

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965978

rs_747360831

6 SubmittersRCV000555938 RCV001017112 RCV001764550 RCV002231351 RCV002319529 RCV004003803

NM_005359.6(SMAD4):c.449G>A (p.Ser150Asn)

SNV
Germline

Chr18:51049319

Conflicting classifications of pathogenicity

Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965791

rs_750355699

5 SubmittersRCV000553373 RCV001328515 RCV002319039 RCV003316697

NM_005359.6(SMAD4):c.298A>C (p.Arg100=)

SNV
Germline

Chr18:51048734

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8965766

rs_751154230

6 SubmittersRCV000568563 RCV001126988 RCV001126989 RCV001126990 RCV001479449 RCV002311908 RCV004701667

NM_005359.6(SMAD4):c.471G>A (p.Met157Ile)

SNV
Germline

Chr18:51054797

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
not specified
Condition: not provided
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965822

rs_780716382

7 SubmittersRCV000573873 RCV000705291 RCV000780719 RCV002259353 RCV002311943 RCV004802236

NM_005359.6(SMAD4):c.789C>T (p.Asn263=)

SNV
Germline

Chr18:51058341

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8965907

rs_763510526

5 SubmittersRCV000571444 RCV000635500 RCV001124421 RCV001124422 RCV001420983 RCV002311920

NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala)

SNV
Germline

Chr18:51054990

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
not specified

Criteria Provided
Conflicting Classifications

CA8965842

rs_770461626

8 SubmittersRCV000986027 RCV001370742 RCV002311911 RCV003584663 RCV004001082 RCV004800475

NM_005359.6(SMAD4):c.250-2A>G

SNV
Germline

Chr18:51048684

Likely pathogenic

Condition: not provided
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA402458160

rs_1555685142

3 SubmittersRCV000578818 RCV002529046 RCV004024594

NM_005359.6(SMAD4):c.1140-11T>A

SNV
Germline

Chr18:51067008

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA629926695

rs_1224777335

5 SubmittersRCV000582717 RCV000663204 RCV002061938 RCV003316772

NM_005359.6(SMAD4):c.1263A>G (p.Ala421=)

SNV
Germline

Chr18:51067142

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA503874270

rs_1406947861

5 SubmittersRCV000581665 RCV001465404 RCV002315877 RCV003236820 RCV004802272

NM_005359.6(SMAD4):c.424+6T>C

SNV
Germline

Chr18:51048866

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
not specified
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

CA8965780

rs_771456293

5 SubmittersRCV000582033 RCV000608629 RCV000806604 RCV004002378 RCV004559247

NM_005359.6(SMAD4):c.756A>G (p.Gly252=)

SNV
Germline

Chr18:51058213

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Condition: not provided
not specified
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA503993949

rs_1244121412

6 SubmittersRCV000581784 RCV000865944 RCV001537083 RCV002268214 RCV002431734 RCV004002381

NM_001114753.3(ENG):c.1687-1G>T

SNV
Germline

Chr9:127817204

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA374973822

rs_1554809106

2 SubmittersRCV000591904 RCV001383868

NM_001114753.3(ENG):c.1742-15G>A

SNV
Germline

Chr9:127816068

Conflicting classifications of pathogenicity

not specified
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

CA5252644

rs_201678228

2 SubmittersRCV000616653 RCV001854136

NM_005359.6(SMAD4):c.1308+1G>A

SNV
Germline

Chr18:51067188

Pathogenic/Likely pathogenic

Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA402465086

rs_587781618

3 SubmittersRCV002233900 RCV002315231 RCV004025257

NM_001114753.3(ENG):c.1351C>T (p.Gln451Ter)

SNV
Germline

Chr9:127818793

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

CA374977575

rs_1554809355

1 SubmittersRCV002233947

NM_001114753.3(ENG):c.690-5C>T

SNV
Germline

Chr9:127825362

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5253017

rs_374628465

3 SubmittersRCV001438451 RCV003479179 RCV004025424

NM_001114753.3(ENG):c.683C>A (p.Ser228Ter)

SNV
Germline

Chr9:127825701

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

CA374983489

rs_1452543778

1 SubmittersRCV002234425

NM_001114753.3(ENG):c.1319T>G (p.Val440Gly)

SNV
Germline

Chr9:127818825

Likely pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Condition: not provided

Reviewed By Expert Panel

CA374977914

rs_1554809363

6 SubmittersRCV000633145 RCV001285345 RCV002385994 RCV003480725

NM_001114753.3(ENG):c.911G>A (p.Arg304Gln)

SNV
Germline

Chr9:127824880

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5252939

rs_753429934

2 SubmittersRCV000633132 RCV003480724

NM_001114753.3(ENG):c.698C>T (p.Thr233Met)

SNV
Germline

Chr9:127825349

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5253010

rs_139767471

2 SubmittersRCV000633133 RCV004992425

NM_001114753.3(ENG):c.1695T>C (p.His565=)

SNV
Germline

Chr9:127817195

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5252676

rs_750637713

3 SubmittersRCV000633166 RCV001166477 RCV002413814

NM_001114753.3(ENG):c.1024C>T (p.Gln342Ter)

SNV
Germline

Chr9:127824414

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

CA374981709

rs_774429348

1 SubmittersRCV002234421

NM_001114753.3(ENG):c.850G>A (p.Glu284Lys)

SNV
Germline

Chr9:127824941

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5252951

rs_372045549

4 SubmittersRCV000633165 RCV001165467 RCV002292573 RCV002413813

NM_005359.6(SMAD4):c.1324C>T (p.Gln442Ter)

SNV
Germline

Chr18:51076653

Pathogenic

Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA402465134

rs_1555687378

2 SubmittersRCV002233982 RCV004802308

NM_005359.6(SMAD4):c.812G>A (p.Ser271Asn)

SNV
Germline

Chr18:51058364

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA402463342

rs_1343555503

5 SubmittersRCV001181983 RCV002234499 RCV002420704 RCV003471993

NM_005359.6(SMAD4):c.1308+2T>C

SNV
Germline

Chr18:51067189

Pathogenic

Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome

Criteria Provided
Single Submitter

rs_1555686624

1 SubmittersRCV000662091 RCV000662093 RCV000662092

NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)

SNV
Germline

Chr18:51048726

Conflicting classifications of pathogenicity

Heritable Thoracic Aortic Disease
Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia
Juvenile polyposis syndrome

Criteria Provided
Conflicting Classifications

rs_1555685159

3 SubmittersRCV000678041 RCV001261772 RCV001304441

NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter)

SNV
Germline

Chr9:127820003

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564453619

3 SubmittersRCV002331335 RCV002233161 RCV003411600

NM_001114753.3(ENG):c.991+2T>C

SNV
Germline

Chr9:127824798

Pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564455554

3 SubmittersRCV002233635 RCV001843954

NM_001114753.3(ENG):c.884C>T (p.Thr295Ile)

SNV
Germline

Chr9:127824907

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_12042

1 SubmittersRCV000692398

NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys)

SNV
Germline

Chr9:127818221

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
not specified
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_745316066

6 SubmittersRCV000707407 RCV001000404 RCV001816740 RCV001840729 RCV002397490

NM_001114753.3(ENG):c.1311G>T (p.Arg437=)

SNV
Germline

Chr9:127819622

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1554809448

1 SubmittersRCV000686208

NM_001114753.3(ENG):c.831C>A (p.Tyr277Ter)

SNV
Germline

Chr9:127824960

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_121918400

2 SubmittersRCV002232930 RCV002285403

NM_001114753.3(ENG):c.817-1G>C

SNV
Germline

Chr9:127824975

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564455715

3 SubmittersRCV000694887 RCV001285575 RCV002424652

NM_001114753.3(ENG):c.68-3C>G

SNV
Germline

Chr9:127843248

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_773334730

1 SubmittersRCV002233171

NM_001114753.3(ENG):c.23T>C (p.Leu8Pro)

SNV
Germline

Chr9:127854333

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564466414

3 SubmittersRCV002232818 RCV002442411 RCV004792371

NM_001114753.3(ENG):c.1A>C (p.Met1Leu)

SNV
Germline

Chr9:127854355

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1060501418

1 SubmittersRCV002232923

NM_001114753.3(ENG):c.1852+21C>G

SNV
Germline

Chr9:127815922

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
not specified

Criteria Provided
Conflicting Classifications

rs_147188969

3 SubmittersRCV000699684 RCV001201352 RCV004800544

NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr)

SNV
Germline

Chr9:127824423

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_761463410

2 SubmittersRCV000690797 RCV001771949

NM_001114753.3(ENG):c.621C>A (p.Cys207Ter)

SNV
Germline

Chr9:127825763

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1440769928

1 SubmittersRCV002233534

NM_001114753.3(ENG):c.145G>T (p.Val49Phe)

SNV
Germline

Chr9:127843168

Pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1252348200

5 SubmittersRCV000693521 RCV001766490 RCV002388247 RCV001287705

NM_001114753.3(ENG):c.1429-2A>G

SNV
Germline

Chr9:127818379

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1564452759

1 SubmittersRCV002232948

NM_001114753.3(ENG):c.805A>G (p.Met269Val)

SNV
Germline

Chr9:127825242

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_1323617205

2 SubmittersRCV002233723 RCV002493252

NM_001114753.3(ENG):c.680A>G (p.His227Arg)

SNV
Germline

Chr9:127825704

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_377548944

2 SubmittersRCV002233574 RCV002499244

NM_001114753.3(ENG):c.690-2A>T

SNV
Germline

Chr9:127825359

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564455970

2 SubmittersRCV000728561 RCV001383205

NM_005359.6(SMAD4):c.1058A>G (p.Tyr353Cys)

SNV
Germline

Chr18:51065525

Conflicting classifications of pathogenicity

Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Conflicting Classifications

rs_377767346

4 SubmittersRCV000734063 RCV001262035 RCV001370335 RCV004993986

NM_000020.3(ACVRL1):c.1249A>T (p.Ile417Phe)

SNV
Germline

Chr12:51918987

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_141653630

3 SubmittersRCV000735961 RCV001245321 RCV003353015

NM_001114753.3(ENG):c.1309C>T (p.Arg437Trp)

SNV
Germline

Chr9:127819624

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1434169817

8 SubmittersRCV000756074 RCV001062873 RCV001726323 RCV002386313

NM_001114753.3(ENG):c.1019C>T (p.Pro340Leu)

SNV
Germline

Chr9:127824419

Conflicting classifications of pathogenicity

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
ENG-related disorder

Criteria Provided
Conflicting Classifications

rs_772135786

4 SubmittersRCV000756076 RCV001262049 RCV002533781 RCV003983196

NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)

SNV
Germline

Chr9:127824892

Pathogenic/Likely pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1335718486

6 SubmittersRCV000757215 RCV001263078 RCV002370008 RCV003594026

NM_001114753.3(ENG):c.687C>T (p.Ala229=)

SNV
Germline

Chr9:127825697

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_376919650

3 SubmittersRCV001085370 RCV002360866 RCV003640938

NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)

SNV
Germline

Chr9:127843158

Pathogenic/Likely pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564462765

5 SubmittersRCV000756077 RCV001262053 RCV002397524 RCV003594025

NM_001114753.3(ENG):c.-188G>A

SNV
Germline

Chr9:127854543

Conflicting classifications of pathogenicity

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_961480381

3 SubmittersRCV000756075 RCV001165531 RCV002533118

NM_005359.6(SMAD4):c.652C>G (p.Pro218Ala)

SNV
Germline

Chr18:51054978

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1345146274

4 SubmittersRCV000774967 RCV003313146 RCV003762875 RCV004001423

NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)

SNV
Germline

Chr18:51076638

Conflicting classifications of pathogenicity

Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_1568211172

4 SubmittersRCV001856136 RCV000776864 RCV001262036

NM_001114753.3(ENG):c.1684C>T (p.Gln562Ter)

SNV
Germline

Chr9:127818122

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588574749

2 SubmittersRCV000806747 RCV002397646

NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter)

SNV
Germline

Chr9:127818353

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_997074986

1 SubmittersRCV000819516

NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser)

SNV
Germline

Chr9:127824350

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1588580782

1 SubmittersRCV000819037

NM_001114753.3(ENG):c.815G>A (p.Trp272Ter)

SNV
Germline

Chr9:127825232

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588581785

2 SubmittersRCV000803704 RCV002422749

NM_001114753.3(ENG):c.694C>T (p.Arg232Trp)

SNV
Germline

Chr9:127825353

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Conflicting Classifications

rs_200372420

5 SubmittersRCV001001189 RCV000808290 RCV002363083 RCV004753049

NM_001114753.3(ENG):c.659T>C (p.Ile220Thr)

SNV
Germline

Chr9:127825725

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588582695

3 SubmittersRCV000807195 RCV001254073 RCV002360987

NM_001114753.3(ENG):c.633C>T (p.Gly211=)

SNV
Germline

Chr9:127825751

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_928192105

2 SubmittersRCV000802410 RCV003117593

NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)

SNV
Germline

Chr9:127825797

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588582870

4 SubmittersRCV000810183 RCV002352402 RCV004702439 RCV004731040

NM_001114753.3(ENG):c.575G>A (p.Arg192His)

SNV
Germline

Chr9:127825809

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1029569378

2 SubmittersRCV000799001 RCV002345775

NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)

SNV
Germline

Chr9:127826510

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588583488

5 SubmittersRCV000795117 RCV001002467 RCV004721607

NM_001114753.3(ENG):c.314T>A (p.Val105Asp)

SNV
Germline

Chr9:127829733

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1588585880

1 SubmittersRCV000824049

NM_001114753.3(ENG):c.280G>T (p.Glu94Ter)

SNV
Germline

Chr9:127829767

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1588585941

1 SubmittersRCV000823009

NM_001114753.3(ENG):c.229C>T (p.Gln77Ter)

SNV
Germline

Chr9:127829818

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588585997

2 SubmittersRCV000807334 RCV002453812

NM_001114753.3(ENG):c.166C>T (p.Gln56Ter)

SNV
Germline

Chr9:127843147

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
See cases

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588596879

4 SubmittersRCV000817651 RCV001262058 RCV003480867 RCV004797881

NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)

SNV
Germline

Chr18:51067073

Pathogenic

Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1599196995

3 SubmittersRCV002318896 RCV002235420 RCV004029096

NM_001114753.3(ENG):c.992-2A>G

SNV
Germline

Chr9:127824448

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588580932

4 SubmittersRCV000821165 RCV001263085 RCV001664441

NM_001114753.3(ENG):c.689+1G>A

SNV
Germline

Chr9:127825694

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588582594

2 SubmittersRCV000819340 RCV001262066

NM_001114753.3(ENG):c.991+2T>G

SNV
Germline

Chr9:127824798

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1564455554

1 SubmittersRCV000820521

NM_001114753.3(ENG):c.111C>T (p.Pro37=)

SNV
Germline

Chr9:127843202

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_755626994

3 SubmittersRCV001169537 RCV001471442 RCV002434114

NM_001114753.3(ENG):c.1135-8C>T

SNV
Germline

Chr9:127820045

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_79426098

2 SubmittersRCV000866966 RCV001168718

NM_001114753.3(ENG):c.405C>G (p.Thr135=)

SNV
Germline

Chr9:127826628

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_773521685

4 SubmittersRCV001167063 RCV001434129 RCV002320124 RCV003432932

NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)

SNV
Germline

Chr9:127825796

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588582860

2 SubmittersRCV001000381 RCV002549132

NM_001114753.3(ENG):c.360+5G>A

SNV
Germline

Chr9:127829682

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1060501417

5 SubmittersRCV001000405 RCV001217648 RCV002454251 RCV003480897

NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)

SNV
Germline

Chr9:127843126

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588596830

2 SubmittersRCV001000992 RCV001044486

NM_005359.6(SMAD4):c.505C>T (p.Gln169Ter)

SNV
Germline

Chr18:51054831

Pathogenic/Likely pathogenic

Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1449334786

5 SubmittersRCV001387868 RCV002319394 RCV003584798 RCV004030837 RCV004726792

NM_005359.6(SMAD4):c.572C>T (p.Ser191Leu)

SNV
Germline

Chr18:51054898

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Condition: not provided
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_752575871

5 SubmittersRCV001024458 RCV001040401 RCV002327231 RCV003442150 RCV004004650

NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter)

SNV
Germline

Chr9:127818128

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830375228

1 SubmittersRCV001071539

NM_001114753.3(ENG):c.1490T>A (p.Leu497Ter)

SNV
Germline

Chr9:127818316

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830384447

1 SubmittersRCV001059287

NM_001114753.3(ENG):c.1311G>A (p.Arg437=)

SNV
Germline

Chr9:127819622

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554809448

3 SubmittersRCV001059848 RCV001286216 RCV002379579

NM_001114753.3(ENG):c.1241T>A (p.Met414Lys)

SNV
Germline

Chr9:127819931

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830432509

1 SubmittersRCV001067548

NM_001114753.3(ENG):c.1236T>A (p.Cys412Ter)

SNV
Germline

Chr9:127819936

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830432773

1 SubmittersRCV001052196

NM_001114753.3(ENG):c.1208T>C (p.Phe403Ser)

SNV
Germline

Chr9:127819964

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
not specified
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1830433526

3 SubmittersRCV001058168 RCV001819781 RCV002348428

NM_001114753.3(ENG):c.626T>A (p.Leu209Ter)

SNV
Germline

Chr9:127825758

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1243079862

2 SubmittersRCV001057195 RCV002365717

NM_001114753.3(ENG):c.494C>T (p.Pro165Leu)

SNV
Germline

Chr9:127826539

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830620321

1 SubmittersRCV001059724

NM_001114753.3(ENG):c.293T>A (p.Val98Asp)

SNV
Germline

Chr9:127829754

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1830715947

2 SubmittersRCV001040883 RCV002436547

NM_005359.6(SMAD4):c.533C>A (p.Ser178Ter)

SNV
Germline

Chr18:51054859

Pathogenic

Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_377767331

2 SubmittersRCV001037387 RCV004031028

NM_001114753.3(ENG):c.943G>A (p.Val315Met)

SNV
Germline

Chr9:127824848

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_763508329

4 SubmittersRCV001873450 RCV002445377 RCV003640954 RCV004792717

NM_001114753.3(ENG):c.523+1G>C

SNV
Germline

Chr9:127826509

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_113930974

3 SubmittersRCV001091125 RCV001862689 RCV002339393

NM_005359.6(SMAD4):c.*1874C>G

SNV
Germline

Chr18:51080341

Conflicting classifications of pathogenicity

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_761701805

2 SubmittersRCV001122225 RCV001122226 RCV001122227 RCV002511046

NM_005359.6(SMAD4):c.*6522C>T

SNV
Germline

Chr18:51084989

Conflicting classifications of pathogenicity

Condition: not provided
Generalized juvenile polyposis/juvenile polyposis coli
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_183472455

2 SubmittersRCV002275295 RCV001123051 RCV001123052 RCV001123053

NM_005359.6(SMAD4):c.1447+15C>A

SNV
Germline

Chr18:51076791

Conflicting classifications of pathogenicity

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis syndrome

Criteria Provided
Conflicting Classifications

rs_1910484768

2 SubmittersRCV001123415 RCV001123414 RCV001127539 RCV002558220

NM_001114753.3(ENG):c.1852+42C>T

SNV
Germline

Chr9:127815901

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
ENG-related disorder

Criteria Provided
Conflicting Classifications

rs_779974705

4 SubmittersRCV001169422 RCV001297217 RCV003973123

NM_001114753.3(ENG):c.1258A>G (p.Met420Val)

SNV
Germline

Chr9:127819914

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_143724056

2 SubmittersRCV001168716 RCV001234384

NM_001114753.3(ENG):c.9C>T (p.Arg3=)

SNV
Germline

Chr9:127854347

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_752431673

3 SubmittersRCV001169538 RCV002379667 RCV001478507

NM_005359.6(SMAD4):c.746A>G (p.Gln249Arg)

SNV
Germline

Chr18:51058203

Conflicting classifications of pathogenicity

Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

rs_371536364

3 SubmittersRCV001187496 RCV002393430 RCV004803524

NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter)

SNV
Germline

Chr9:127825273

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_537154767

4 SubmittersRCV001221010 RCV001262072

NM_001114753.3(ENG):c.159C>A (p.Cys53Ter)

SNV
Germline

Chr9:127843154

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_148475405

4 SubmittersRCV001217745 RCV001262055 RCV002402652

NM_001114753.3(ENG):c.806T>G (p.Met269Arg)

SNV
Germline

Chr9:127825241

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_752331196

1 SubmittersRCV001206664

NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)

SNV
Germline

Chr9:127843171

Pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_1831082433

3 SubmittersRCV001206409 RCV001286215 RCV004792793

NM_001114753.3(ENG):c.689+2T>A

SNV
Germline

Chr9:127825693

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_863223535

1 SubmittersRCV001206775

NM_001114753.3(ENG):c.360+1G>T

SNV
Germline

Chr9:127829686

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_886039505

2 SubmittersRCV001219028 RCV002451499

NM_001114753.3(ENG):c.569T>A (p.Met190Lys)

SNV
Germline

Chr9:127825815

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1830602163

3 SubmittersRCV001229612 RCV001508634 RCV002348772

NM_001114753.3(ENG):c.442G>C (p.Glu148Gln)

SNV
Germline

Chr9:127826591

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_770290260

2 SubmittersRCV002484223 RCV001225657

NM_001114753.3(ENG):c.565G>A (p.Asp189Asn)

SNV
Germline

Chr9:127825819

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_147792018

2 SubmittersRCV001243876 RCV002348827

NM_001114753.3(ENG):c.1686+5G>A

SNV
Germline

Chr9:127818115

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

rs_1830374353

2 SubmittersRCV001231934 RCV004778017

NM_001114753.3(ENG):c.1311+5G>A

SNV
Germline

Chr9:127819617

Likely pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1830423993

2 SubmittersRCV001236499 RCV002225129

NM_001114753.3(ENG):c.8G>A (p.Arg3His)

SNV
Germline

Chr9:127854348

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
not specified
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_1588604597

3 SubmittersRCV001253137 RCV002246239 RCV002570525

NM_001114753.3(ENG):c.1411C>T (p.Gln471Ter)

SNV
Germline

Chr9:127818733

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1830395639

4 SubmittersRCV001263068 RCV002393677 RCV002537646

NM_001114753.3(ENG):c.1365C>A (p.Tyr455Ter)

SNV
Germline

Chr9:127818779

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

rs_774943840

3 SubmittersRCV001263066 RCV003594125 RCV003481040

NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)

SNV
Germline

Chr9:127824868

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1482440395

4 SubmittersRCV001263079 RCV001880054 RCV002375316 RCV004753257

NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)

SNV
Germline

Chr9:127824895

Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1830569662

2 SubmittersRCV001262076 RCV001880033

NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)

SNV
Germline

Chr9:127825738

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_1830597676

2 SubmittersRCV001262064 RCV002537627

NM_001114753.3(ENG):c.328C>T (p.Gln110Ter)

SNV
Germline

Chr9:127829719

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1830713927

2 SubmittersRCV001263073 RCV001880053

NM_005359.6(SMAD4):c.303G>A (p.Trp101Ter)

SNV
Germline

Chr18:51048739

Pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

rs_1909619442

2 SubmittersRCV001262037 RCV002447241

NM_001114753.3(ENG):c.-10C>T

SNV
Germline

Chr9:127854365

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Conflicting Classifications

rs_756994701

5 SubmittersRCV001268056 RCV001880157 RCV002430065 RCV003405477

NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)

SNV
Germline

Chr9:127815988

Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Reviewed By Expert Panel

rs_1830302008

4 SubmittersRCV001289606 RCV002411932 RCV003594127

NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)

SNV
Germline

Chr9:127818161

Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Reviewed By Expert Panel

rs_1830376644

4 SubmittersRCV001289855 RCV003759041

NM_001114753.3(ENG):c.1429-8C>G

SNV
Germline

Chr9:127818385

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_376169815

2 SubmittersRCV001286942 RCV003759039

NM_001114753.3(ENG):c.1216C>G (p.Arg406Gly)

SNV
Germline

Chr9:127819956

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_751787590

2 SubmittersRCV001286121 RCV001871683

NM_001114753.3(ENG):c.707T>A (p.Val236Glu)

SNV
Germline

Chr9:127825340

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1588582073

2 SubmittersRCV001297411 RCV002366125

NM_001114753.3(ENG):c.149C>T (p.Ser50Leu)

SNV
Germline

Chr9:127843164

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_927607049

2 SubmittersRCV001309474 RCV003485705

NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly)

SNV
Germline

Chr9:127819938

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830432884

1 SubmittersRCV001343795

NM_001114753.3(ENG):c.755T>C (p.Ile252Thr)

SNV
Germline

Chr9:127825292

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_2131887851

1 SubmittersRCV001369206

NM_001114753.3(ENG):c.290T>G (p.Leu97Arg)

SNV
Germline

Chr9:127829757

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_2131895129

1 SubmittersRCV001377783

NM_005359.6(SMAD4):c.1308+2T>G

SNV
Germline

Chr18:51067189

Likely pathogenic

Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_1555686624

2 SubmittersRCV001379228 RCV004037636

NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter)

SNV
Germline

Chr9:127817203

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131873923

2 SubmittersRCV001390809 RCV002404909

NM_001114753.3(ENG):c.1687-2A>G

SNV
Germline

Chr9:127817205

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_2131873933

1 SubmittersRCV001388266

NM_001114753.3(ENG):c.1426C>T (p.Gln476Ter)

SNV
Germline

Chr9:127818718

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_965119099

2 SubmittersRCV001388267 RCV002395875

NM_001114753.3(ENG):c.1134G>C (p.Ala378=)

SNV
Germline

Chr9:127824304

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1329127701

1 SubmittersRCV001387664

NM_001114753.3(ENG):c.806T>A (p.Met269Lys)

SNV
Germline

Chr9:127825241

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_752331196

2 SubmittersRCV001381129 RCV002420857

NM_001114753.3(ENG):c.690-1G>C

SNV
Germline

Chr9:127825358

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1554810272

1 SubmittersRCV001388923

NM_001114753.3(ENG):c.523+1G>A

SNV
Germline

Chr9:127826509

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_113930974

2 SubmittersRCV001387969 RCV002341830

NM_001114753.3(ENG):c.360+1G>C

SNV
Germline

Chr9:127829686

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_886039505

2 SubmittersRCV001390952 RCV002456608

NM_001114753.3(ENG):c.1686+8G>A

SNV
Germline

Chr9:127818112

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Condition: not provided
not specified

Criteria Provided
Conflicting Classifications

rs_372670034

3 SubmittersRCV001429105 RCV004571000 RCV004587155

NM_001114753.3(ENG):c.586T>C (p.Trp196Arg)

SNV
Germline

Chr9:127825798

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131889336

3 SubmittersRCV001533004 RCV002359157

NM_001114753.3(ENG):c.581T>C (p.Leu194Pro)

SNV
Germline

Chr9:127825803

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_2131889364

3 SubmittersRCV001756534 RCV002359230 RCV002539874

NM_001114753.3(ENG):c.1151T>C (p.Ile384Thr)

SNV
Germline

Chr9:127820021

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_2131879350

2 SubmittersRCV001767411 RCV002544078

NM_001114753.3(ENG):c.219+2T>C

SNV
Germline

Chr9:127843092

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131918332

3 SubmittersRCV001803568 RCV001885245 RCV002425077

NM_001114753.3(ENG):c.1087T>C (p.Cys363Arg)

SNV
Germline

Chr9:127824351

Pathogenic/Likely pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131885848

2 SubmittersRCV001802294 RCV002541358

NM_001114753.3(ENG):c.1687-1G>A

SNV
Germline

Chr9:127817204

Pathogenic/Likely pathogenic

Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554809106

4 SubmittersRCV001806990 RCV002482336 RCV002397756 RCV002541392

NM_001114753.3(ENG):c.88T>C (p.Cys30Arg)

SNV
Germline

Chr9:127843225

Likely pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564462834

3 SubmittersRCV001810349 RCV002542422

NM_001114753.3(ENG):c.67+2T>C

SNV
Germline

Chr9:127854287

Pathogenic/Likely pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131936480

3 SubmittersRCV001843980 RCV001869863 RCV002361083

NM_001114753.3(ENG):c.1517T>A (p.Leu506His)

SNV
Germline

Chr9:127818289

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
ENG-related disorder

Criteria Provided
Conflicting Classifications

rs_778594104

2 SubmittersRCV001966153 RCV003408025

NM_005359.6(SMAD4):c.249+1G>T

SNV
Germline

Chr18:51047296

Likely pathogenic

Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

rs_2144402036

2 SubmittersRCV002017822 RCV004046640

NM_001114753.3(ENG):c.149C>A (p.Ser50Ter)

SNV
Germline

Chr9:127843164

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_927607049

1 SubmittersRCV001872700

NM_001114753.3(ENG):c.235G>T (p.Glu79Ter)

SNV
Germline

Chr9:127829812

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_763992842

2 SubmittersRCV001884462 RCV002449534

NM_001114753.3(ENG):c.219+5G>A

SNV
Germline

Chr9:127843089

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554812252

2 SubmittersRCV001992088 RCV002423216

NM_001114753.3(ENG):c.692C>A (p.Pro231His)

SNV
Germline

Chr9:127825355

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_1289232116

2 SubmittersRCV001931162 RCV003167221

NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser)

SNV
Germline

Chr9:127818161

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830376644

1 SubmittersRCV001966971

NM_001114753.3(ENG):c.1429-1G>C

SNV
Germline

Chr9:127818378

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_2131876244

1 SubmittersRCV001975130

NM_001114753.3(ENG):c.1312-1G>C

SNV
Germline

Chr9:127818833

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131877148

2 SubmittersRCV001980286 RCV002386858

NM_001114753.3(ENG):c.68-18C>A

SNV
Germline

Chr9:127843263

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_372807542

1 SubmittersRCV002027402

NM_001114753.3(ENG):c.1241T>G (p.Met414Arg)

SNV
Germline

Chr9:127819931

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830432509

1 SubmittersRCV002009785

NM_001114753.3(ENG):c.619T>C (p.Cys207Arg)

SNV
Germline

Chr9:127825765

Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131889169

2 SubmittersRCV002020601 RCV002352744

NM_001114753.3(ENG):c.1134+1G>A

SNV
Germline

Chr9:127824303

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_112809381

1 SubmittersRCV001909060

NM_001114753.3(ENG):c.609G>C (p.Leu203Phe)

SNV
Germline

Chr9:127825775

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
ENG-related disorder

Criteria Provided
Conflicting Classifications

rs_767850408

2 SubmittersRCV002018356 RCV003418339

NM_001114753.3(ENG):c.662T>G (p.Leu221Arg)

SNV
Germline

Chr9:127825722

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1554810378

1 SubmittersRCV001901676

NM_001114753.3(ENG):c.991+4A>G

SNV
Germline

Chr9:127824796

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131886797

2 SubmittersRCV001979778 RCV002386800

NM_001114753.3(ENG):c.64A>G (p.Thr22Ala)

SNV
Germline

Chr9:127854292

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

rs_764472279

2 SubmittersRCV001983824 RCV004045325

NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro)

SNV
Germline

Chr9:127818247

Likely pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131875808

2 SubmittersRCV002012464 RCV004990546

NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)

SNV
Germline

Chr9:127820002

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002331870 RCV003775864 RCV004721049

NM_001114753.3(ENG):c.614G>C (p.Arg205Pro)

SNV
Germline

Chr9:127825770

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002360429 RCV003759144

NM_001114753.3(ENG):c.523G>A (p.Ala175Thr)

SNV
Germline

Chr9:127826510

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002344335 RCV003994427

NM_000020.3(ACVRL1):c.526-7C>G

SNV
Germline

Chr12:51913967

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2
Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Conflicting Classifications

4 SubmittersRCV002341050 RCV003096673 RCV003994428 RCV004700731

NM_001114753.3(ENG):c.832T>C (p.Ser278Pro)

SNV
Germline

Chr9:127824959

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002412580 RCV003594243

NM_001114753.3(ENG):c.920A>T (p.Asn307Ile)

SNV
Germline

Chr9:127824871

Conflicting classifications of pathogenicity

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002371252 RCV003594246

NM_001114753.3(ENG):c.689+1G>T

SNV
Germline

Chr9:127825694

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002362284 RCV003103343

NM_001114753.3(ENG):c.95T>A (p.Leu32His)

SNV
Germline

Chr9:127843218

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002385295 RCV003103594

NM_001114753.3(ENG):c.157T>C (p.Cys53Arg)

SNV
Germline

Chr9:127843156

Pathogenic/Likely pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002405785 RCV003759685

NM_001114753.3(ENG):c.990C>A (p.Cys330Ter)

SNV
Germline

Chr9:127824801

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV002382786 RCV003759659 RCV004594644

NM_001114753.3(ENG):c.1311+2T>A

SNV
Germline

Chr9:127819620

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002385443 RCV003594256

NM_005359.6(SMAD4):c.1546C>T (p.Gln516Ter)

SNV
Germline

Chr18:51078354

Pathogenic/Likely pathogenic

Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002403263 RCV004059035

NM_001114753.3(ENG):c.1003C>T (p.Gln335Ter)

SNV
Germline

Chr9:127824435

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002405361 RCV003096932

NM_001114753.3(ENG):c.1301C>G (p.Ser434Ter)

SNV
Germline

Chr9:127819632

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002380858 RCV003594254

NM_001114753.3(ENG):c.272G>A (p.Trp91Ter)

SNV
Germline

Chr9:127829775

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002437473 RCV003594298

NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter)

SNV
Germline

Chr9:127818730

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003062233

NM_001114753.3(ENG):c.1311+2T>C

SNV
Germline

Chr9:127819620

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

3 SubmittersRCV003062234 RCV004594664

NM_001114753.3(ENG):c.932T>G (p.Val311Gly)

SNV
Germline

Chr9:127824859

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003062235

NM_001114753.3(ENG):c.1311+1G>A

SNV
Germline

Chr9:127819621

Pathogenic/Likely pathogenic

Hereditary hemorrhagic telangiectasia
Condition: not provided

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003061568 RCV005001348

NM_001114753.3(ENG):c.706G>A (p.Val236Met)

SNV
Germline

Chr9:127825341

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV002625890

NM_001114753.3(ENG):c.146T>A (p.Val49Asp)

SNV
Germline

Chr9:127843167

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV002820784

NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe)

SNV
Germline

Chr9:127818328

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV002828202

NM_001114753.3(ENG):c.360+2T>C

SNV
Germline

Chr9:127829685

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV002835067

NM_001114753.3(ENG):c.-58G>A

SNV
Germline

Chr9:127854413

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV002922032 RCV004066292

NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser)

SNV
Germline

Chr9:127819958

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003059185

NM_001114753.3(ENG):c.68-2A>T

SNV
Germline

Chr9:127843247

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003055698

NM_001114753.3(ENG):c.89G>A (p.Cys30Tyr)

SNV
Germline

Chr9:127843224

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003594654 RCV003360710

NM_005359.6(SMAD4):c.455-2A>T

SNV
Unknown

Chr18:51054779

Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV003463548

NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter)

SNV
Germline

Chr9:127818742

Pathogenic

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003484561 RCV003594704

NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln)

SNV
Germline

Chr9:127819623

Conflicting classifications of pathogenicity

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004701086 RCV003594863

NM_001114753.3(ENG):c.219+2T>G

SNV
Germline

Chr9:127843092

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003593582

NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly)

SNV
Germline

Chr9:127819624

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003593374

NM_001114753.3(ENG):c.816+2T>C

SNV
Germline

Chr9:127825229

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003593375

NM_001114753.3(ENG):c.361-11T>A

SNV
Germline

Chr9:127826683

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003593376

NM_001114753.3(ENG):c.3G>A (p.Met1Ile)

SNV
Germline

Chr9:127854353

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003593379

NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg)

SNV
Germline

Chr9:127819992

Pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003593809

NM_001114753.3(ENG):c.895C>G (p.Leu299Val)

SNV
Germline

Chr9:127824896

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003758298

NM_001114753.3(ENG):c.1280T>G (p.Val427Gly)

SNV
Germline

Chr9:127819653

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003994637

NM_000020.3(ACVRL1):c.988G>C (p.Asp330His)

SNV
Germline

Chr12:51915440

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003994713

NM_005359.6(SMAD4):c.788-1G>C

SNV
Unknown

Chr18:51058339

Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004439982

NM_005359.6(SMAD4):c.1659A>C (p.Ter553Cys)

SNV
Unknown

Chr18:51078467

Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004440080

NM_005359.6(SMAD4):c.788-1G>A

SNV
Unknown

Chr18:51058339

Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004440227

NM_005359.6(SMAD4):c.1309-2A>G

SNV
Unknown

Chr18:51076636

Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004440419

NM_005359.6(SMAD4):c.754G>T (p.Gly252Ter)

SNV
Unknown

Chr18:51058211

Pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004442660

NM_005359.6(SMAD4):c.1059C>A (p.Tyr353Ter)

SNV
Unknown

Chr18:51065526

Pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Single Submitter

1 SubmittersRCV004589256

NM_001114753.3(ENG):c.987C>G (p.Ser329Arg)

SNV
Germline

Chr9:127824804

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV004765083

NM_005359.6(SMAD4):c.745C>A (p.Gln249Lys)

SNV
Germline

Chr18:51058202

Conflicting classifications of pathogenicity

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

2 SubmittersRCV004802709 RCV004994479