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	13 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	11 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/somatic	Chr18:51065548	Pathogenic/Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Gastric adenocarcinoma Pancreatic adenocarcinoma Neoplasm of uterine cervix Breast neoplasm Squamous cell carcinoma of the head and neck Carcinoma of esophagus Lung adenocarcinoma Neoplasm of the large intestine Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection SMAD4-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA128095	rs_80338963	11 SubmittersRCV000009072 RCV000009071 RCV000059732 RCV000419013 RCV000419899 RCV000440366 RCV000424666 RCV000430148 RCV000435832 RCV000429075 RCV000434956 RCV001376609 RCV002311508 RCV003924819
NM_005359.6(SMAD4):c.1157G>A (p.Gly386Asp)	SNV Germline/somatic	Chr18:51067036	Pathogenic/Likely pathogenic	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of esophagus Prostate adenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Neoplasm of the large intestine Pancreatic adenocarcinoma	No Assertion Criteria Provided	CA128103	rs_121912580	2 SubmittersRCV000009074 RCV000435285 RCV000443856 RCV000431620 RCV000444854 RCV000422272 RCV000425012
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	Criteria Provided Multiple Submitters No Conflicts		rs_1564457752	4 SubmittersRCV000018151 RCV001851903 RCV004018638
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 Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA259180	rs_377767331	4 SubmittersRCV001310210 RCV002288516 RCV002310632
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/somatic	Chr18:51065548	Pathogenic	Breast neoplasm Carcinoma of esophagus Neoplasm of uterine cervix Lung adenocarcinoma Neoplasm of the large intestine Gastric adenocarcinoma Squamous cell carcinoma of the head and neck Pancreatic adenocarcinoma Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Multiple Submitters No Conflicts	CA128092	rs_80338963	3 SubmittersRCV000418132 RCV000436432 RCV000425278 RCV000428136 RCV000428393 RCV000418748 RCV000438396 RCV000441273 RCV002470716 RCV002228051
NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	SNV Germline/somatic	Chr18:51065549	Pathogenic/Likely pathogenic	Squamous cell carcinoma of the head and neck Breast neoplasm Neoplasm of uterine cervix Neoplasm of the large intestine Carcinoma of esophagus Pancreatic adenocarcinoma Lung adenocarcinoma Gastric adenocarcinoma Condition: not provided Juvenile polyposis syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas 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	7 SubmittersRCV000421390 RCV000441473 RCV000419206 RCV000431203 RCV000423753 RCV000431590 RCV000434006 RCV000439037 RCV000520995 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	Criteria Provided Multiple Submitters No Conflicts	CA189448	rs_377767360	6 SubmittersRCV000023059 RCV000493396 RCV001374448 RCV001376567 RCV002310634
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 Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Intellectual disability Neurodevelopmental delay Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Multiple Submitters No Conflicts	CA128979	rs_281875322	38 SubmittersRCV000023061 RCV000059733 RCV000635427 RCV000763031 RCV001249691 RCV001376590 RCV001260808 RCV001375955 RCV004558272
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 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA211890	rs_149755320	27 SubmittersRCV000034710 RCV000123259 RCV000148889 RCV000213006 RCV000383039 RCV000327173 RCV000771070 RCV001420980 RCV001170612 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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome 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 Moyamoya angiopathy Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Myhre syndrome Juvenile polyposis syndrome Generalized juvenile polyposis/juvenile polyposis coli SMAD4-related disorder Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA145285	rs_397518413	26 SubmittersRCV000074360 RCV000160962 RCV001261800 RCV002228175 RCV002311544 RCV002483120 RCV000541839 RCV003398656 RCV003584539
NM_005359.6(SMAD4):c.424+5G>A	SNV Germline	Chr18:51048865	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome not specified Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA288122	rs_200772603	18 SubmittersRCV000115883 RCV000213004 RCV000204731 RCV000306889 RCV000346296 RCV000656977 RCV000770696 RCV002311002 RCV002228348
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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome 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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA162134	rs_377119288	12 SubmittersRCV000122059 RCV000132146 RCV000411125 RCV000657009 RCV000770697 RCV002311007 RCV003315779 RCV001358781
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 Myhre syndrome Juvenile polyposis syndrome Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186803	rs_199526820	11 SubmittersRCV000123261 RCV000162721 RCV000439984 RCV001125527 RCV001450073 RCV000858658 RCV001125528 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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA332848	rs_587780792	9 SubmittersRCV000123263 RCV000236059 RCV000575742 RCV001293440 RCV002312542 RCV003315821
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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Carcinoma of pancreas Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome SMAD4-related disorder Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA332851	rs_587780793	10 SubmittersRCV000123264 RCV000986028 RCV002310680 RCV001358798 RCV002483236 RCV003422007 RCV003315822 RCV003584556
NM_005359.6(SMAD4):c.1140-10T>C	SNV Germline	Chr18:51067009	Conflicting classifications of pathogenicity	not specified Condition: not provided Hereditary cancer-predisposing syndrome Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Carcinoma of pancreas Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA293632	rs_186332162	15 SubmittersRCV000128173 RCV000586605 RCV000579485 RCV001080462 RCV001127536 RCV001507129 RCV001127535 RCV002492489 RCV002453458
NM_005359.6(SMAD4):c.1106A>G (p.Asn369Ser)	SNV Germline	Chr18:51065573	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Condition: not provided Isolated thoracic aortic aneurysm Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome not specified Myhre syndrome Carcinoma of pancreas Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA167654	rs_139569694	12 SubmittersRCV000131130 RCV000555043 RCV000679584 RCV001374834 RCV002311018 RCV003474774 RCV004525878 RCV002478399
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 Pulmonary hypertension, primary, 1 Cardiovascular phenotype ENG-related disorder	Criteria Provided Conflicting Classifications	CA211422	rs_150932144	8 SubmittersRCV000148487 RCV000457880 RCV000859971 RCV000488867 RCV003298151 RCV003407567
NM_001114753.3(ENG):c.1273-2A>G	SNV Germline	Chr9:127819662	Pathogenic/Likely pathogenic	Haemorrhagic telangiectasia 1 Condition: not provided not specified Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA211924	rs_373842615	8 SubmittersRCV000149883 RCV000256118 RCV000508197 RCV000679898 RCV000791417 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 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Myhre 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 Myhre syndrome	Criteria Provided Conflicting Classifications	CA299961	rs_539739051	11 SubmittersRCV000160959 RCV000199953 RCV000260140 RCV000334040 RCV000449407 RCV000515353 RCV001420989 RCV002312690 RCV003483531
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 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Myhre syndrome Pulmonary arterial hypertension Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome not specified SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186263	rs_372316981	15 SubmittersRCV000162438 RCV000196213 RCV000764159 RCV000589285 RCV001123230 RCV001328507 RCV001123231 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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection not specified SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA186871	rs_142292491	17 SubmittersRCV000162750 RCV000412290 RCV000760073 RCV001124331 RCV001124332 RCV001450081 RCV002310727 RCV002222413 RCV003927534
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 Juvenile polyposis syndrome Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA191787	rs_751985298	8 SubmittersRCV000164798 RCV000196374 RCV001328522 RCV001508829 RCV003316029 RCV002310740
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 Generalized juvenile polyposis/juvenile polyposis coli Hereditary hemorrhagic telangiectasia Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA186319	rs_144378484	13 SubmittersRCV000162465 RCV000200571 RCV000417748 RCV000589728 RCV001124423 RCV001124424 RCV001450056 RCV003330520 RCV002310724
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 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA188612	rs_786201404	7 SubmittersRCV000163557 RCV000469746 RCV000761013 RCV001589026 RCV003474849 RCV002310731
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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection 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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications	CA193006	rs_786202472	5 SubmittersRCV000412222 RCV002311024 RCV001446529 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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome 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	Criteria Provided Multiple Submitters No Conflicts	CA322673	rs_863223539	4 SubmittersRCV000198174 RCV000553924 RCV002408863
NM_001114753.3(ENG):c.1586G>A (p.Arg529His)	SNV Germline	Chr9:127818220	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia Condition: not provided Cardiovascular phenotype ENG-related disorder	Criteria Provided Conflicting Classifications	CA321073	rs_863223538	7 SubmittersRCV000229345 RCV000791433 RCV000755259 RCV002399723 RCV003907720
NM_001114753.3(ENG):c.1428+2T>C	SNV Germline	Chr9:127818714	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA325022	rs_863223543	3 SubmittersRCV000200447 RCV001853140 RCV002390515
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 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA322837	rs_863223536	3 SubmittersRCV000198335 RCV001056962 RCV002381667
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.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 Pulmonary arterial hypertension Epistaxis 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_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 Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Heritable Thoracic Aortic Disease Early age onset of sporadic thoracic aortic dissections Juvenile polyposis syndrome Condition: not provided Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA10580980	rs_876659967	7 SubmittersRCV000220373 RCV000689822 RCV001124420 RCV001123336 RCV000678043 RCV001261774 RCV001312210 RCV001762494 RCV002311325
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)	SNV Germline	Chr9:127816033	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia not specified Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5252632	rs_201768056	5 SubmittersRCV000233031 RCV000414391 RCV001169423 RCV003221872 RCV002408948
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)	SNV Germline	Chr9:127818173	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Pulmonary arterial hypertension associated with congenital heart disease not specified Pulmonary hypertension, primary, 1 Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5252712	rs_142896669	8 SubmittersRCV000226902 RCV000664173 RCV000454429 RCV000488732 RCV001166478 RCV002399808 RCV002225526
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	SNV Germline	Chr9:127826586	Pathogenic	Hereditary hemorrhagic telangiectasia Condition: not provided See cases Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype ENG-related disorder	Reviewed By Expert Panel	CA10582615	rs_878853657	9 SubmittersRCV000231233 RCV000427340 RCV002223199 RCV002494618 RCV002327101 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 Myhre syndrome Juvenile polyposis syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8965768	rs_757211048	6 SubmittersRCV000227775 RCV000441778 RCV000571677 RCV001126992 RCV001450080 RCV001126991 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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection 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	Condition: not provided Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8965916	rs_370176106	6 SubmittersRCV000479945 RCV000234236 RCV000576051 RCV003475829 RCV002311353
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 Hereditary cancer-predisposing syndrome not specified Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided SMAD4-related disorder	Criteria Provided Conflicting Classifications	CA8966112	rs_756795016	9 SubmittersRCV000226180 RCV000287385 RCV000340035 RCV000573053 RCV000613346 RCV001450069 RCV002311349 RCV003326381 RCV003967648
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 Pulmonary arterial hypertension Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA10588468	rs_886039506	9 SubmittersRCV000255761 RCV000545627 RCV001003750 RCV000791375 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 Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Conflicting Classifications	CA5253160	rs_756897517	4 SubmittersRCV000396856 RCV002058772 RCV001373160 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	Criteria Provided Conflicting Classifications	CA5252944	rs_140155568	2 SubmittersRCV000293976 RCV001494202
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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	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 Generalized juvenile polyposis/juvenile polyposis coli Hereditary cancer-predisposing syndrome Myhre syndrome not specified Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA8965744	rs_752243771	6 SubmittersRCV000295030 RCV000409679 RCV000771622 RCV000389254 RCV000427458 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 Telangiectasia, hereditary hemorrhagic, type 1 Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 2 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts	CA16042853	rs_1057517944	11 SubmittersRCV000414291 RCV000513497 RCV000488776 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 Juvenile polyposis syndrome Generalized juvenile polyposis/juvenile polyposis coli Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA8965914	rs_753358186	6 SubmittersRCV000435398 RCV000579563 RCV001125428 RCV001125429 RCV001477273 RCV001125427 RCV002374637
NM_005359.6(SMAD4):c.954T>C (p.Pro318=)	SNV Germline	Chr18:51059915	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Condition: not provided	Criteria Provided Conflicting Classifications	CA8965958	rs_773615487	5 SubmittersRCV001087625 RCV001019481 RCV004000472 RCV002429418 RCV000417972
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 Juvenile polyposis syndrome Myhre syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16608768	rs_1057520520	11 SubmittersRCV000427335 RCV000579788 RCV000679586 RCV001084748 RCV001123417 RCV001391325 RCV001123416 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 Telangiectasia, hereditary hemorrhagic, type 1 ENG-related disorder	Criteria Provided Conflicting Classifications	CA5252756	rs_141330288	3 SubmittersRCV001084927 RCV003640900 RCV003970317
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	8 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 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA5252881	rs_201497772	4 SubmittersRCV000471364 RCV001168719 RCV002455868 RCV001785621
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	8 SubmittersRCV000467491 RCV000488746 RCV001576840 RCV002436455
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 Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Hereditary cancer-predisposing syndrome	Criteria Provided Conflicting Classifications	CA16616077	rs_1060504028	4 SubmittersRCV000842150 RCV001079105 RCV004002045 RCV002258918
NM_005359.6(SMAD4):c.870C>T (p.His290=)	SNV Germline	Chr18:51058422	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	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 Condition: not provided Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	Criteria Provided Conflicting Classifications	CA8966110	rs_549489716	9 SubmittersRCV000460479 RCV000564724 RCV000615584 RCV001124521 RCV001124520 RCV001284065 RCV001420984 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 ACVRL1-related disorder See cases	Criteria Provided Multiple Submitters No Conflicts	CA384897887	rs_1085307405	8 SubmittersRCV000488479 RCV001050243 RCV002244957 RCV002420248 RCV004551616 RCV004584390
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 Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 2	Criteria Provided Multiple Submitters No Conflicts	CA384905272	rs_1085307422	4 SubmittersRCV000488647 RCV000756968 RCV002395184 RCV002527017
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	Reviewed By Expert Panel	CA384906013	rs_1085307429	5 SubmittersRCV000488710 RCV001262033 RCV002395186 RCV003480652
NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr)	SNV Germline	Chr9:127820027	Conflicting classifications of pathogenicity	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications	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 Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA384902497	rs_1131691686	7 SubmittersRCV000494459 RCV000554533 RCV004017648 RCV002446962
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	Condition: not provided Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374984114	rs_1554810490	7 SubmittersRCV000627219 RCV000534162 RCV001263082 RCV002341195
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	Criteria Provided Multiple Submitters No Conflicts	CA374986465	rs_1554810936	2 SubmittersRCV000507915 RCV001217385
NM_001114753.3(ENG):c.1326C>A (p.Cys442Ter)	SNV Germline	Chr9:127818818	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374977872	rs_1554809361	3 SubmittersRCV000523118 RCV001219462 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	Criteria Provided Single Submitter	CA374978426	rs_1554809516	1 SubmittersRCV002231258
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	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts	CA374983467	rs_1554810272	2 SubmittersRCV002231270 RCV002377025
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 Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome 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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection	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 Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas Condition: not provided not specified Juvenile polyposis syndrome 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 RCV002268143 RCV002231713 RCV002319530 RCV003999046
NM_005359.6(SMAD4):c.1219G>C (p.Val407Leu)	SNV Germline	Chr18:51067098	Conflicting classifications of pathogenicity	Juvenile polyposis syndrome Hereditary cancer-predisposing syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Carcinoma of pancreas 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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection 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 not specified Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Condition: not provided Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965978	rs_747360831	6 SubmittersRCV000555938 RCV001017112 RCV002231351 RCV002319529 RCV001764550 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 Hereditary cancer-predisposing syndrome Familial thoracic aortic aneurysm and aortic dissection Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Criteria Provided Conflicting Classifications	CA8965791	rs_750355699	4 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 Juvenile polyposis syndrome Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Myhre syndrome	Criteria Provided Conflicting Classifications	CA8965766	rs_751154230	5 SubmittersRCV000568563 RCV001126988 RCV001126989 RCV001479449 RCV002311908 RCV001126990
NM_005359.6(SMAD4):c.789C>T (p.Asn263=)	SNV Germline	Chr18:51058341	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Generalized juvenile polyposis/juvenile polyposis coli Familial thoracic aortic aneurysm and aortic dissection Hereditary cancer-predisposing syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications	CA8965907	rs_763510526	4 SubmittersRCV000571444 RCV001124421 RCV001124422 RCV000635500 RCV002311920 RCV001420983
NM_005359.6(SMAD4):c.664A>G (p.Thr222Ala)	SNV Germline	Chr18:51054990	Conflicting classifications of pathogenicity	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 Conflicting Classifications	CA8965842	rs_770461626	7 SubmittersRCV000986027 RCV001370742 RCV002311911 RCV003584663 RCV004001082
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.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	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Condition: not provided	Criteria Provided Conflicting Classifications	CA374977914	rs_1554809363	4 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.1695T>C (p.His565=)	SNV Germline	Chr9:127817195	Conflicting classifications of pathogenicity	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications	CA5252676	rs_750637713	3 SubmittersRCV000633166 RCV002413814 RCV001166477
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.812G>A (p.Ser271Asn)	SNV Germline	Chr18:51058364	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	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	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype ENG-related disorder	Criteria Provided Multiple Submitters No Conflicts		rs_1564453619	3 SubmittersRCV002233161 RCV002331335 RCV003411600
NM_001114753.3(ENG):c.991+2T>C	SNV Germline	Chr9:127824798	Pathogenic	Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1564455554	2 SubmittersRCV001843954 RCV002233635
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 Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1 not specified Condition: not provided	Criteria Provided Conflicting Classifications		rs_745316066	6 SubmittersRCV000707407 RCV002397490 RCV001000404 RCV001816740 RCV001840729
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	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1564466414	2 SubmittersRCV002232818 RCV002442411
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	Criteria Provided Conflicting Classifications		rs_147188969	2 SubmittersRCV000699684 RCV001201352
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 Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1252348200	4 SubmittersRCV000693521 RCV001287705 RCV001766490 RCV002388247
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	Criteria Provided Conflicting Classifications		rs_377767346	3 SubmittersRCV000734063 RCV001262035 RCV001370335
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	Telangiectasia, hereditary hemorrhagic, type 1 Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1335718486	6 SubmittersRCV001263078 RCV000757215 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/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications		rs_1345146274	4 SubmittersRCV000774967 RCV003313146 RCV004001423 RCV003762875
NM_005359.6(SMAD4):c.1309G>A (p.Val437Ile)	SNV Germline	Chr18:51076638	Conflicting classifications of pathogenicity	Hereditary cancer-predisposing syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome	Criteria Provided Conflicting Classifications		rs_1568211172	4 SubmittersRCV000776864 RCV001262036 RCV001856136
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	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_200372420	4 SubmittersRCV000808290 RCV001001189 RCV002363083
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	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_928192105	2 SubmittersRCV003117593 RCV000802410
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter)	SNV Germline	Chr9:127825797	Pathogenic	Hereditary hemorrhagic telangiectasia Cardiovascular phenotype	Criteria Provided Multiple Submitters No Conflicts		rs_1588582870	2 SubmittersRCV000810183 RCV002352402
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	Criteria Provided Multiple Submitters No Conflicts		rs_1588583488	3 SubmittersRCV000795117 RCV001002467
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	Criteria Provided Multiple Submitters No Conflicts		rs_1588596879	3 SubmittersRCV000817651 RCV001262058 RCV003480867
NM_005359.6(SMAD4):c.1194G>A (p.Trp398Ter)	SNV Germline	Chr18:51067073	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		rs_1599196995	3 SubmittersRCV002235420 RCV002318896 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	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		rs_1449334786	4 SubmittersRCV001387868 RCV002319394 RCV003584798 RCV004030837
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 Cardiovascular phenotype Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Multiple Submitters No Conflicts		rs_1554809448	3 SubmittersRCV001059848 RCV002379579 RCV001286216
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	Criteria Provided Conflicting Classifications		rs_763508329	3 SubmittersRCV001873450 RCV002445377 RCV003640954
NM_001114753.3(ENG):c.523+1G>C	SNV Germline	Chr9:127826509	Pathogenic	Condition: not provided Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_113930974	3 SubmittersRCV001091125 RCV002339393 RCV001862689
NM_005359.6(SMAD4):c.*1874C>G	SNV Germline	Chr18:51080341	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Myhre syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_761701805	2 SubmittersRCV001122227 RCV001122225 RCV001122226 RCV002511046
NM_005359.6(SMAD4):c.*6522C>T	SNV Germline	Chr18:51084989	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Myhre syndrome Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Condition: not provided	Criteria Provided Conflicting Classifications		rs_183472455	2 SubmittersRCV001123051 RCV001123052 RCV001123053 RCV002275295
NM_005359.6(SMAD4):c.1447+15C>A	SNV Germline	Chr18:51076791	Conflicting classifications of pathogenicity	Generalized juvenile polyposis/juvenile polyposis coli Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome Juvenile polyposis syndrome Myhre syndrome	Criteria Provided Conflicting Classifications		rs_1910484768	2 SubmittersRCV001127539 RCV001123415 RCV002558220 RCV001123414
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	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype	Criteria Provided Conflicting Classifications		rs_752431673	3 SubmittersRCV001478507 RCV001169538 RCV002379667
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	Criteria Provided Multiple Submitters No Conflicts		rs_1831082433	2 SubmittersRCV001206409 RCV001286215
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	Hereditary hemorrhagic telangiectasia Telangiectasia, hereditary hemorrhagic, type 1	Criteria Provided Conflicting Classifications		rs_770290260	2 SubmittersRCV001225657 RCV002484223
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	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter		rs_1830374353	1 SubmittersRCV001231934
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 Condition: not provided Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_774943840	3 SubmittersRCV001263066 RCV003481040 RCV003594125
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	SNV Germline	Chr9:127824868	Pathogenic/Likely pathogenic	Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_1482440395	3 SubmittersRCV001263079 RCV002375316 RCV001880054
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 Cardiovascular phenotype ENG-related disorder Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_756994701	4 SubmittersRCV001268056 RCV002430065 RCV003405477 RCV001880157
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg)	SNV Germline	Chr9:127815988	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_1830302008	3 SubmittersRCV001289606 RCV002411932 RCV003594127
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly)	SNV Germline	Chr9:127818161	Conflicting classifications of pathogenicity	Telangiectasia, hereditary hemorrhagic, type 1 Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications		rs_1830376644	3 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.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 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_2131918332	3 SubmittersRCV001803568 RCV002425077 RCV001885245
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 Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts		rs_2131936480	3 SubmittersRCV001843980 RCV002361083 RCV001869863
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	Criteria Provided Single Submitter		rs_2131875808	1 SubmittersRCV002012464
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter)	SNV Germline	Chr9:127820002	Pathogenic	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002331870 RCV003775864
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	Criteria Provided Conflicting Classifications			3 SubmittersRCV002341050 RCV003096673 RCV003994428
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	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV002382786 RCV003759659
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	Criteria Provided Multiple Submitters No Conflicts			2 SubmittersRCV003062234
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	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003061568
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	Cardiovascular phenotype Hereditary hemorrhagic telangiectasia	Criteria Provided Conflicting Classifications			2 SubmittersRCV003360710 RCV003594654
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	Likely pathogenic	Hereditary hemorrhagic telangiectasia	Criteria Provided Single Submitter			1 SubmittersRCV003594863
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_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

13 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

11 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/somatic

Chr18:51065548

Pathogenic/Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Condition: not provided
Gastric adenocarcinoma
Pancreatic adenocarcinoma
Neoplasm of uterine cervix
Breast neoplasm
Squamous cell carcinoma of the head and neck
Carcinoma of esophagus
Lung adenocarcinoma
Neoplasm of the large intestine
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
SMAD4-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

CA128095

rs_80338963

11 SubmittersRCV000009072 RCV000009071 RCV000059732 RCV000419013 RCV000419899 RCV000440366 RCV000424666 RCV000430148 RCV000435832 RCV000429075 RCV000434956 RCV001376609 RCV002311508 RCV003924819

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

SNV
Germline/somatic

Chr18:51067036

Pathogenic/Likely pathogenic

Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of esophagus
Prostate adenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Neoplasm of the large intestine
Pancreatic adenocarcinoma

No Assertion Criteria Provided

CA128103

rs_121912580

2 SubmittersRCV000009074 RCV000435285 RCV000443856 RCV000431620 RCV000444854 RCV000422272 RCV000425012

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564457752

4 SubmittersRCV000018151 RCV001851903 RCV004018638

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
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA259180

rs_377767331

4 SubmittersRCV001310210 RCV002288516 RCV002310632

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/somatic

Chr18:51065548

Pathogenic

Breast neoplasm
Carcinoma of esophagus
Neoplasm of uterine cervix
Lung adenocarcinoma
Neoplasm of the large intestine
Gastric adenocarcinoma
Squamous cell carcinoma of the head and neck
Pancreatic adenocarcinoma
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome

Criteria Provided
Multiple Submitters
No Conflicts

CA128092

rs_80338963

3 SubmittersRCV000418132 RCV000436432 RCV000425278 RCV000428136 RCV000428393 RCV000418748 RCV000438396 RCV000441273 RCV002470716 RCV002228051

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

SNV
Germline/somatic

Chr18:51065549

Pathogenic/Likely pathogenic

Squamous cell carcinoma of the head and neck
Breast neoplasm
Neoplasm of uterine cervix
Neoplasm of the large intestine
Carcinoma of esophagus
Pancreatic adenocarcinoma
Lung adenocarcinoma
Gastric adenocarcinoma
Condition: not provided
Juvenile polyposis syndrome
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
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

7 SubmittersRCV000421390 RCV000441473 RCV000419206 RCV000431203 RCV000423753 RCV000431590 RCV000434006 RCV000439037 RCV000520995 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

Criteria Provided
Multiple Submitters
No Conflicts

CA189448

rs_377767360

6 SubmittersRCV000023059 RCV000493396 RCV001374448 RCV001376567 RCV002310634

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
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
Intellectual disability
Neurodevelopmental delay
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

Criteria Provided
Multiple Submitters
No Conflicts

CA128979

rs_281875322

38 SubmittersRCV000023061 RCV000059733 RCV000635427 RCV000763031 RCV001249691 RCV001376590 RCV001260808 RCV001375955 RCV004558272

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

Criteria Provided
Conflicting Classifications

CA211890

rs_149755320

27 SubmittersRCV000034710 RCV000123259 RCV000148889 RCV000213006 RCV000383039 RCV000327173 RCV000771070 RCV001420980 RCV001170612 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
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
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
Moyamoya angiopathy
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Myhre syndrome
Juvenile polyposis syndrome
Generalized juvenile polyposis/juvenile polyposis coli
SMAD4-related disorder
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA145285

rs_397518413

26 SubmittersRCV000074360 RCV000160962 RCV001261800 RCV002228175 RCV002311544 RCV002483120 RCV000541839 RCV003398656 RCV003584539

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

SNV
Germline

Chr18:51048865

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA288122

rs_200772603

18 SubmittersRCV000115883 RCV000213004 RCV000204731 RCV000306889 RCV000346296 RCV000656977 RCV000770696 RCV002311002 RCV002228348

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

Criteria Provided
Conflicting Classifications

CA162134

rs_377119288

12 SubmittersRCV000122059 RCV000132146 RCV000411125 RCV000657009 RCV000770697 RCV002311007 RCV003315779 RCV001358781

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

Criteria Provided
Conflicting Classifications

CA186803

rs_199526820

11 SubmittersRCV000123261 RCV000162721 RCV000439984 RCV001125527 RCV001450073 RCV000858658 RCV001125528 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
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA332848

rs_587780792

9 SubmittersRCV000123263 RCV000236059 RCV000575742 RCV001293440 RCV002312542 RCV003315821

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
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Juvenile polyposis syndrome
Carcinoma of pancreas
Myhre syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome
SMAD4-related disorder
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA332851

rs_587780793

10 SubmittersRCV000123264 RCV000986028 RCV002310680 RCV001358798 RCV002483236 RCV003422007 RCV003315822 RCV003584556

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

SNV
Germline

Chr18:51067009

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA293632

rs_186332162

15 SubmittersRCV000128173 RCV000586605 RCV000579485 RCV001080462 RCV001127536 RCV001507129 RCV001127535 RCV002492489 RCV002453458

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

SNV
Germline

Chr18:51065573

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA167654

rs_139569694

12 SubmittersRCV000131130 RCV000555043 RCV000679584 RCV001374834 RCV002311018 RCV003474774 RCV004525878 RCV002478399

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
Pulmonary hypertension, primary, 1
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Conflicting Classifications

CA211422

rs_150932144

8 SubmittersRCV000148487 RCV000457880 RCV000859971 RCV000488867 RCV003298151 RCV003407567

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

SNV
Germline

Chr9:127819662

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

CA211924

rs_373842615

8 SubmittersRCV000149883 RCV000256118 RCV000508197 RCV000679898 RCV000791417 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
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Myhre 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
Myhre syndrome

Criteria Provided
Conflicting Classifications

CA299961

rs_539739051

11 SubmittersRCV000160959 RCV000199953 RCV000260140 RCV000334040 RCV000449407 RCV000515353 RCV001420989 RCV002312690 RCV003483531

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

Criteria Provided
Conflicting Classifications

CA186263

rs_372316981

15 SubmittersRCV000162438 RCV000196213 RCV000764159 RCV000589285 RCV001123230 RCV001328507 RCV001123231 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
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
not specified
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA186871

rs_142292491

17 SubmittersRCV000162750 RCV000412290 RCV000760073 RCV001124331 RCV001124332 RCV001450081 RCV002310727 RCV002222413 RCV003927534

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

Criteria Provided
Conflicting Classifications

CA191787

rs_751985298

8 SubmittersRCV000164798 RCV000196374 RCV001328522 RCV001508829 RCV003316029 RCV002310740

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

Criteria Provided
Conflicting Classifications

CA186319

rs_144378484

13 SubmittersRCV000162465 RCV000200571 RCV000417748 RCV000589728 RCV001124423 RCV001124424 RCV001450056 RCV003330520 RCV002310724

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

Criteria Provided
Conflicting Classifications

CA188612

rs_786201404

7 SubmittersRCV000163557 RCV000469746 RCV000761013 RCV001589026 RCV003474849 RCV002310731

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

Criteria Provided
Conflicting Classifications

CA193006

rs_786202472

5 SubmittersRCV000412222 RCV002311024 RCV001446529 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
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
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

Criteria Provided
Multiple Submitters
No Conflicts

CA322673

rs_863223539

4 SubmittersRCV000198174 RCV000553924 RCV002408863

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

SNV
Germline

Chr9:127818220

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA321073

rs_863223538

7 SubmittersRCV000229345 RCV000791433 RCV000755259 RCV002399723 RCV003907720

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

SNV
Germline

Chr9:127818714

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA325022

rs_863223543

3 SubmittersRCV000200447 RCV001853140 RCV002390515

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
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA322837

rs_863223536

3 SubmittersRCV000198335 RCV001056962 RCV002381667

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

Criteria Provided
Conflicting Classifications

CA10580980

rs_876659967

7 SubmittersRCV000220373 RCV000689822 RCV001124420 RCV001123336 RCV000678043 RCV001261774 RCV001312210 RCV001762494 RCV002311325

NM_001114753.3(ENG):c.1762G>A (p.Val588Ile)

SNV
Germline

Chr9:127816033

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5252632

rs_201768056

5 SubmittersRCV000233031 RCV000414391 RCV001169423 RCV003221872 RCV002408948

NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser)

SNV
Germline

Chr9:127818173

Conflicting classifications of pathogenicity

Hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension associated with congenital heart disease
not specified
Pulmonary hypertension, primary, 1
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5252712

rs_142896669

8 SubmittersRCV000226902 RCV000664173 RCV000454429 RCV000488732 RCV001166478 RCV002399808 RCV002225526

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

SNV
Germline

Chr9:127826586

Pathogenic

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

Reviewed By Expert Panel

CA10582615

rs_878853657

9 SubmittersRCV000231233 RCV000427340 RCV002223199 RCV002494618 RCV002327101 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
Myhre syndrome
Juvenile polyposis syndrome
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8965768

rs_757211048

6 SubmittersRCV000227775 RCV000441778 RCV000571677 RCV001126992 RCV001450080 RCV001126991 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
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
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

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

Criteria Provided
Conflicting Classifications

CA8965916

rs_370176106

6 SubmittersRCV000479945 RCV000234236 RCV000576051 RCV003475829 RCV002311353

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
Hereditary cancer-predisposing syndrome
not specified
Juvenile polyposis syndrome
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Condition: not provided
SMAD4-related disorder

Criteria Provided
Conflicting Classifications

CA8966112

rs_756795016

9 SubmittersRCV000226180 RCV000287385 RCV000340035 RCV000573053 RCV000613346 RCV001450069 RCV002311349 RCV003326381 RCV003967648

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
Pulmonary arterial hypertension
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA10588468

rs_886039506

9 SubmittersRCV000255761 RCV000545627 RCV001003750 RCV000791375 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
Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Conflicting Classifications

CA5253160

rs_756897517

4 SubmittersRCV000396856 RCV002058772 RCV001373160 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

Criteria Provided
Conflicting Classifications

CA5252944

rs_140155568

2 SubmittersRCV000293976 RCV001494202

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
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

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

Criteria Provided
Conflicting Classifications

CA8965744

rs_752243771

6 SubmittersRCV000295030 RCV000409679 RCV000771622 RCV000389254 RCV000427458 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
Telangiectasia, hereditary hemorrhagic, type 1
Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 2
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

CA16042853

rs_1057517944

11 SubmittersRCV000414291 RCV000513497 RCV000488776 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
Juvenile polyposis syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA8965914

rs_753358186

6 SubmittersRCV000435398 RCV000579563 RCV001125428 RCV001125429 RCV001477273 RCV001125427 RCV002374637

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

SNV
Germline

Chr18:51059915

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8965958

rs_773615487

5 SubmittersRCV001087625 RCV001019481 RCV004000472 RCV002429418 RCV000417972

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
Juvenile polyposis syndrome
Myhre syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome

Criteria Provided
Conflicting Classifications

CA16608768

rs_1057520520

11 SubmittersRCV000427335 RCV000579788 RCV000679586 RCV001084748 RCV001123417 RCV001391325 RCV001123416 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
Telangiectasia, hereditary hemorrhagic, type 1
ENG-related disorder

Criteria Provided
Conflicting Classifications

CA5252756

rs_141330288

3 SubmittersRCV001084927 RCV003640900 RCV003970317

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

8 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
Cardiovascular phenotype
Condition: not provided

Criteria Provided
Conflicting Classifications

CA5252881

rs_201497772

4 SubmittersRCV000471364 RCV001168719 RCV002455868 RCV001785621

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

8 SubmittersRCV000467491 RCV000488746 RCV001576840 RCV002436455

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

Criteria Provided
Conflicting Classifications

CA16616077

rs_1060504028

4 SubmittersRCV000842150 RCV001079105 RCV004002045 RCV002258918

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

SNV
Germline

Chr18:51058422

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

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

Criteria Provided
Conflicting Classifications

CA8966110

rs_549489716

9 SubmittersRCV000460479 RCV000564724 RCV000615584 RCV001124521 RCV001124520 RCV001284065 RCV001420984 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
ACVRL1-related disorder
See cases

Criteria Provided
Multiple Submitters
No Conflicts

CA384897887

rs_1085307405

8 SubmittersRCV000488479 RCV001050243 RCV002244957 RCV002420248 RCV004551616 RCV004584390

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
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 2

Criteria Provided
Multiple Submitters
No Conflicts

CA384905272

rs_1085307422

4 SubmittersRCV000488647 RCV000756968 RCV002395184 RCV002527017

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

Reviewed By Expert Panel

CA384906013

rs_1085307429

5 SubmittersRCV000488710 RCV001262033 RCV002395186 RCV003480652

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

SNV
Germline

Chr9:127820027

Conflicting classifications of pathogenicity

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

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
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA384902497

rs_1131691686

7 SubmittersRCV000494459 RCV000554533 RCV004017648 RCV002446962

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

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

Criteria Provided
Multiple Submitters
No Conflicts

CA374984114

rs_1554810490

7 SubmittersRCV000627219 RCV000534162 RCV001263082 RCV002341195

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

Criteria Provided
Multiple Submitters
No Conflicts

CA374986465

rs_1554810936

2 SubmittersRCV000507915 RCV001217385

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

SNV
Germline

Chr9:127818818

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374977872

rs_1554809361

3 SubmittersRCV000523118 RCV001219462 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

Criteria Provided
Single Submitter

CA374978426

rs_1554809516

1 SubmittersRCV002231258

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

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

CA374983467

rs_1554810272

2 SubmittersRCV002231270 RCV002377025

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
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
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
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection

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
Myhre syndrome
Generalized juvenile polyposis/juvenile polyposis coli
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
Carcinoma of pancreas
Condition: not provided
not specified
Juvenile polyposis syndrome
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 RCV002268143 RCV002231713 RCV002319530 RCV003999046

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

SNV
Germline

Chr18:51067098

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8965978

rs_747360831

6 SubmittersRCV000555938 RCV001017112 RCV002231351 RCV002319529 RCV001764550 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
Hereditary cancer-predisposing syndrome
Familial thoracic aortic aneurysm and aortic dissection
Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome

Criteria Provided
Conflicting Classifications

CA8965791

rs_750355699

4 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
Juvenile polyposis syndrome
Familial thoracic aortic aneurysm and aortic dissection
Hereditary cancer-predisposing syndrome
Myhre syndrome

Criteria Provided
Conflicting Classifications

CA8965766

rs_751154230

5 SubmittersRCV000568563 RCV001126988 RCV001126989 RCV001479449 RCV002311908 RCV001126990

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

SNV
Germline

Chr18:51058341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA8965907

rs_763510526

4 SubmittersRCV000571444 RCV001124421 RCV001124422 RCV000635500 RCV002311920 RCV001420983

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

SNV
Germline

Chr18:51054990

Conflicting classifications of pathogenicity

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
Conflicting Classifications

CA8965842

rs_770461626

7 SubmittersRCV000986027 RCV001370742 RCV002311911 RCV003584663 RCV004001082

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.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

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA374977914

rs_1554809363

4 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.1695T>C (p.His565=)

SNV
Germline

Chr9:127817195

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

CA5252676

rs_750637713

3 SubmittersRCV000633166 RCV002413814 RCV001166477

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.812G>A (p.Ser271Asn)

SNV
Germline

Chr18:51058364

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

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

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564453619

3 SubmittersRCV002233161 RCV002331335 RCV003411600

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

SNV
Germline

Chr9:127824798

Pathogenic

Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564455554

2 SubmittersRCV001843954 RCV002233635

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

Criteria Provided
Conflicting Classifications

rs_745316066

6 SubmittersRCV000707407 RCV002397490 RCV001000404 RCV001816740 RCV001840729

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

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1564466414

2 SubmittersRCV002232818 RCV002442411

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

Criteria Provided
Conflicting Classifications

rs_147188969

2 SubmittersRCV000699684 RCV001201352

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1252348200

4 SubmittersRCV000693521 RCV001287705 RCV001766490 RCV002388247

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

Criteria Provided
Conflicting Classifications

rs_377767346

3 SubmittersRCV000734063 RCV001262035 RCV001370335

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

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1335718486

6 SubmittersRCV001263078 RCV000757215 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/hereditary hemorrhagic telangiectasia syndrome
Juvenile polyposis syndrome

Criteria Provided
Conflicting Classifications

rs_1345146274

4 SubmittersRCV000774967 RCV003313146 RCV004001423 RCV003762875

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

SNV
Germline

Chr18:51076638

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1568211172

4 SubmittersRCV000776864 RCV001262036 RCV001856136

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

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

Criteria Provided
Conflicting Classifications

rs_200372420

4 SubmittersRCV000808290 RCV001001189 RCV002363083

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

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_928192105

2 SubmittersRCV003117593 RCV000802410

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

SNV
Germline

Chr9:127825797

Pathogenic

Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588582870

2 SubmittersRCV000810183 RCV002352402

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588583488

3 SubmittersRCV000795117 RCV001002467

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1588596879

3 SubmittersRCV000817651 RCV001262058 RCV003480867

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

SNV
Germline

Chr18:51067073

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

rs_1599196995

3 SubmittersRCV002235420 RCV002318896 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

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

rs_1449334786

4 SubmittersRCV001387868 RCV002319394 RCV003584798 RCV004030837

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
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Multiple Submitters
No Conflicts

rs_1554809448

3 SubmittersRCV001059848 RCV002379579 RCV001286216

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

Criteria Provided
Conflicting Classifications

rs_763508329

3 SubmittersRCV001873450 RCV002445377 RCV003640954

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

SNV
Germline

Chr9:127826509

Pathogenic

Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_113930974

3 SubmittersRCV001091125 RCV002339393 RCV001862689

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

SNV
Germline

Chr18:51080341

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_761701805

2 SubmittersRCV001122227 RCV001122225 RCV001122226 RCV002511046

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

SNV
Germline

Chr18:51084989

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_183472455

2 SubmittersRCV001123051 RCV001123052 RCV001123053 RCV002275295

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

SNV
Germline

Chr18:51076791

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1910484768

2 SubmittersRCV001127539 RCV001123415 RCV002558220 RCV001123414

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

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

Criteria Provided
Conflicting Classifications

rs_752431673

3 SubmittersRCV001478507 RCV001169538 RCV002379667

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1831082433

2 SubmittersRCV001206409 RCV001286215

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

Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1

Criteria Provided
Conflicting Classifications

rs_770290260

2 SubmittersRCV001225657 RCV002484223

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

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

rs_1830374353

1 SubmittersRCV001231934

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
Condition: not provided
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_774943840

3 SubmittersRCV001263066 RCV003481040 RCV003594125

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

SNV
Germline

Chr9:127824868

Pathogenic/Likely pathogenic

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

Criteria Provided
Multiple Submitters
No Conflicts

rs_1482440395

3 SubmittersRCV001263079 RCV002375316 RCV001880054

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
Cardiovascular phenotype
ENG-related disorder
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_756994701

4 SubmittersRCV001268056 RCV002430065 RCV003405477 RCV001880157

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

SNV
Germline

Chr9:127815988

Conflicting classifications of pathogenicity

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

Criteria Provided
Conflicting Classifications

rs_1830302008

3 SubmittersRCV001289606 RCV002411932 RCV003594127

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

SNV
Germline

Chr9:127818161

Conflicting classifications of pathogenicity

Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

rs_1830376644

3 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.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
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131918332

3 SubmittersRCV001803568 RCV002425077 RCV001885245

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
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

rs_2131936480

3 SubmittersRCV001843980 RCV002361083 RCV001869863

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

Criteria Provided
Single Submitter

rs_2131875808

1 SubmittersRCV002012464

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

SNV
Germline

Chr9:127820002

Pathogenic

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002331870 RCV003775864

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

Criteria Provided
Conflicting Classifications

3 SubmittersRCV002341050 RCV003096673 RCV003994428

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV002382786 RCV003759659

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

Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV003062234

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

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003061568

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

Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia

Criteria Provided
Conflicting Classifications

2 SubmittersRCV003360710 RCV003594654

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

Likely pathogenic

Hereditary hemorrhagic telangiectasia

Criteria Provided
Single Submitter

1 SubmittersRCV003594863

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