A total 737 pathogenic variants reported in gene endoglin (ENG)  
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
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 SubmittersRCV000018148RCV003593860
NM_001114753.3(ENG):c.360+4A>G SNV
Germline		 Chr9:127829683 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA913184727 rs_1564457752

5 SubmittersRCV000018151RCV001851903RCV004700247RCV004018638
NM_001114753.3(ENG):c.2T>C (p.Met1Thr) SNV
Germline		 Chr9:127854354 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA257569 rs_267606783

3 SubmittersRCV000018153RCV002433460
NM_001114753.3(ENG):c.1238G>T (p.Gly413Val) SNV
Germline		 Chr9:127819934 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 No Assertion Criteria Provided
 CA257572 rs_121918401

1 SubmittersRCV000018154
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 SubmittersRCV000018156RCV001212827
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
Pulmonary hypertension, primary, 1
Hereditary hemorrhagic telangiectasia
ENG-related disorder
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA211422 rs_150932144

9 SubmittersRCV000148487RCV000457880RCV000488867RCV000859971RCV003407567RCV003298151RCV005865248
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

11 SubmittersRCV000149883RCV000256118RCV000508197RCV000679898RCV000791417RCV002371992
NM_001114753.3(ENG):c.259C>T (p.Gln87Ter) SNV
Germline		 Chr9:127829788 Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA346329 rs_730880096

2 SubmittersRCV000157221RCV005089770
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

4 SubmittersRCV000174219RCV000633153RCV003298214
NM_001114753.3(ENG):c.1715T>A (p.Leu572Ter) SNV
Germline		 Chr9:127817175 Pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322673 rs_863223539

5 SubmittersRCV000198174RCV000553924RCV002408863RCV004752789
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) SNV
Germline		 Chr9:127818220 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder		 Reviewed By Expert Panel
 CA321073 rs_863223538

10 SubmittersRCV000229345RCV000755259RCV000791433RCV002399723RCV003907720
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 SubmittersRCV000200447RCV001853140RCV002390515
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 SubmittersRCV000198224RCV000551278RCV001286561RCV002390514
NM_001114753.3(ENG):c.1312A>T (p.Lys438Ter) SNV
Germline		 Chr9:127818832 Pathogenic/Likely pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA322837 rs_863223536

4 SubmittersRCV000198335RCV001056962RCV002381667RCV005089996
NM_001114753.3(ENG):c.1272+1G>A SNV
Germline		 Chr9:127819899 Pathogenic/Likely pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320498 rs_773073663

2 SubmittersRCV000196088RCV006555658
NM_001114753.3(ENG):c.689+2T>C SNV
Germline		 Chr9:127825693 Pathogenic Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA324588 rs_863223535

2 SubmittersRCV000200037RCV005831561
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

5 SubmittersRCV000199857RCV000702018RCV002345703
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) SNV
Germline		 Chr9:127826587 Pathogenic Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA320116 rs_863223534

3 SubmittersRCV000195747RCV002327036RCV005089995
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 SubmittersRCV000198121RCV000695516RCV002453717
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
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5253073 rs_548424658

4 SubmittersRCV000211433RCV000859173RCV002262803RCV005831569
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) SNV
Germline		 Chr9:127826586 Pathogenic Hereditary hemorrhagic telangiectasia
Condition: not provided
See cases
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1
ENG-related disorder		 Reviewed By Expert Panel
 CA10582615 rs_878853657

9 SubmittersRCV000231233RCV000427340RCV002223199RCV002327101RCV002494618RCV003422129
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 SubmittersRCV000227257RCV000454889RCV001513011RCV003389736
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 SubmittersRCV000232191RCV000578937RCV001388235RCV002365173
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

11 SubmittersRCV000255227RCV000274164RCV001034674RCV002450790
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) SNV
Germline		 Chr9:127829770 Pathogenic Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Pulmonary arterial hypertension
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA10588468 rs_886039506

10 SubmittersRCV000255761RCV000545627RCV000791375RCV001003750RCV002436090
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 SubmittersRCV000391772RCV002418102RCV003593947
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) SNV
Germline		 Chr9:127829725 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5253160 rs_756897517

5 SubmittersRCV000396856RCV001373160RCV002058772RCV004022107
NM_001114753.3(ENG):c.900G>A (p.Leu300=) SNV
Germline		 Chr9:127824891 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252944 rs_140155568

3 SubmittersRCV000293976RCV001494202RCV004619279
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
Nonpapillary renal cell carcinoma		 Criteria Provided
Conflicting Classifications
 CA5253161 rs_767907933

5 SubmittersRCV000298103RCV000916437RCV002058773RCV005900501
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

3 SubmittersRCV000262783RCV001861340
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 SubmittersRCV000285725RCV003593951
NM_001114753.3(ENG):c.-115G>C SNV
Germline		 Chr9:127854470 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
not specified		 Criteria Provided
Conflicting Classifications
 CA10632669 rs_546892762

3 SubmittersRCV000393275RCV001861341RCV006443252
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

11 SubmittersRCV000415646RCV000488039RCV001034662RCV001821144RCV002418240RCV003950330
NM_001114753.3(ENG):c.1465C>T (p.Gln489Ter) SNV
Germline		 Chr9:127818341 Pathogenic/Likely pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16606222 rs_1057521648

6 SubmittersRCV000421678RCV000808225RCV002392990RCV002225104
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 SubmittersRCV000458266RCV003151063
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 SubmittersRCV000756079RCV002230338
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 SubmittersRCV000460714RCV001753879RCV002365627
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 SubmittersRCV000462769RCV000791420RCV001531114RCV002379438
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 SubmittersRCV000458484RCV001508635RCV001803764RCV002348305RCV003392278
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

11 SubmittersRCV000463117RCV000756078RCV001262048RCV002379437
NM_001114753.3(ENG):c.1702G>A (p.Val568Ile) SNV
Germline		 Chr9:127817188 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5252675 rs_781201877

3 SubmittersRCV002261089RCV003153610RCV005044667
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) SNV
Germline		 Chr9:127824340 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252881 rs_201497772

4 SubmittersRCV000471364RCV001168719RCV001785621RCV002455868
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 SubmittersRCV000464848RCV002481415
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 SubmittersRCV000485643RCV002230779RCV002451097
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

9 SubmittersRCV000468087RCV000507266RCV002225618RCV002275030RCV002429496RCV004000763RCV004551519
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 SubmittersRCV000469330RCV000508379RCV002230780RCV002418369
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 SubmittersRCV000484671RCV000526610RCV002481510
NM_001114753.3(ENG):c.1970T>C (p.Met657Thr) SNV
Germline		 Chr9:127815689 Conflicting classifications of pathogenicity Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252576 rs_768873662

4 SubmittersRCV000487632RCV002481545RCV006342304
NM_001114753.3(ENG):c.1853G>T (p.Arg618Leu) SNV
Germline		 Chr9:127815806 Pathogenic Pulmonary hypertension, primary, 1 No Assertion Criteria Provided
 CA374970924 rs_1085307436

1 SubmittersRCV000488791
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_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) SNV
Germline		 Chr9:127820027 Pathogenic Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Reviewed By Expert Panel
 CA374978902 rs_1131691931

4 SubmittersRCV000494433RCV002455955RCV002524049RCV005252926
NM_001114753.3(ENG):c.526C>T (p.Gln176Ter) SNV
Germline		 Chr9:127825858 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA374983805 rs_1131691674

1 SubmittersRCV000493872
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 SubmittersRCV000493483RCV003593974
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

8 SubmittersRCV000500817RCV000633131RCV001565138RCV002367686RCV004551628
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

5 SubmittersRCV000506377RCV001049940RCV001786396RCV002404320
NM_001114753.3(ENG):c.1306C>T (p.Gln436Ter) SNV
Germline		 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 SubmittersRCV000506337RCV000512687RCV001212134RCV002383980
NM_001114753.3(ENG):c.1273-5C>T SNV
Germline		 Chr9:127819665 Conflicting classifications of pathogenicity not specified
Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 CA5252824 rs_779103881

4 SubmittersRCV000506008RCV001168715RCV000558143
NM_001114753.3(ENG):c.781T>G (p.Trp261Gly) SNV
Germline		 Chr9:127825266 Likely pathogenic not specified Criteria Provided
Single Submitter
 CA374983206 rs_1554810223

1 SubmittersRCV000505853
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter) SNV
Germline		 Chr9:127825287 Pathogenic not specified
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983319 rs_1554810234

2 SubmittersRCV000507429RCV003480660
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 SubmittersRCV000508217RCV001370738
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) SNV
Germline		 Chr9:127826522 Pathogenic Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374984114 rs_1554810490

11 SubmittersRCV000534162RCV000627219RCV001263082RCV002341195RCV004730966
NM_001114753.3(ENG):c.-98G>A SNV
Germline		 Chr9:127854453 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 CA200326824 rs_923040659

2 SubmittersRCV000507801RCV005091137
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 SubmittersRCV000506963RCV001377784
NM_001114753.3(ENG):c.220-1G>A SNV
Germline		 Chr9:127829828 Pathogenic Hereditary hemorrhagic telangiectasia
not specified
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374986465 rs_1554810936

3 SubmittersRCV001217385RCV000507915RCV004730967
NM_001114753.3(ENG):c.1501G>T (p.Gly501Ter) SNV
Germline		 Chr9:127818305 Pathogenic not specified Criteria Provided
Single Submitter
 CA374975810 rs_372072854

1 SubmittersRCV000506602
NM_001114753.3(ENG):c.1479C>A (p.Cys493Ter) SNV
Germline		 Chr9:127818327 Likely pathogenic Hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA374975894 rs_1197761705

1 SubmittersRCV005054203
NM_001114753.3(ENG):c.816+1G>A SNV
Germline		 Chr9:127825230 Likely pathogenic Hereditary hemorrhagic telangiectasia No Assertion Criteria Provided
 CA200313398 rs_111471193

1 SubmittersRCV005054202
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 SubmittersRCV000523118RCV001219462RCV002384020
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 SubmittersRCV000521330RCV002384003RCV003758805
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) SNV
Germline		 Chr9:127826521 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA374984113 rs_756980265

3 SubmittersRCV000523480RCV003278865
NM_001114753.3(ENG):c.219+5G>C SNV
Germline		 Chr9:127843089 Pathogenic/Likely pathogenic Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA658656052 rs_1554812252

2 SubmittersRCV000519277RCV002225644
NM_001114753.3(ENG):c.67+1G>A SNV
Germline		 Chr9:127854288 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989490 rs_1554813783

7 SubmittersRCV000018155RCV000521385RCV002367727RCV001851484
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 SubmittersRCV002231261RCV002384068RCV003480670
NM_001114753.3(ENG):c.1220G>A (p.Ser407Asn) SNV
Germline		 Chr9:127819952 Likely pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374978426 rs_1554809516

2 SubmittersRCV002231258RCV005001990
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 SubmittersRCV000525562RCV000757216RCV002231035
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 SubmittersRCV001764537RCV002231269
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 SubmittersRCV000559765RCV000791352RCV002367789
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 SubmittersRCV000540792RCV001167009RCV002395313
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 SubmittersRCV000547239RCV002420376
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 SubmittersRCV000579346RCV002231266RCV003989113
NM_001114753.3(ENG):c.1469T>C (p.Leu490Ser) SNV
Germline		 Chr9:127818337 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA5252752 rs_763475207

4 SubmittersRCV000539445RCV002395314RCV005231031
NM_001114753.3(ENG):c.863G>A (p.Arg288His) SNV
Germline		 Chr9:127824928 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5252949 rs_770328302

2 SubmittersRCV000554722RCV005044798
NM_001114753.3(ENG):c.690-1G>A SNV
Germline		 Chr9:127825358 Pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983467 rs_1554810272

3 SubmittersRCV002231270RCV002377025RCV005638350
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 SubmittersRCV000547986RCV002367790
NM_001114753.3(ENG):c.1217G>A (p.Arg406His) SNV
Germline		 Chr9:127819955 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252844 rs_149065210

3 SubmittersRCV002231257RCV005620314RCV006342349
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 SubmittersRCV000530058RCV001034649RCV001545412RCV002323931RCV003424095
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_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 SubmittersRCV000591904RCV001383868
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 SubmittersRCV000616653RCV001854136
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.683C>A (p.Ser228Ter) SNV
Germline		 Chr9:127825701 Pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983489 rs_1452543778

2 SubmittersRCV002234425RCV006342422
NM_001114753.3(ENG):c.1319T>G (p.Val440Gly) SNV
Germline		 Chr9:127818825 Likely pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Condition: not provided		 Reviewed By Expert Panel
 CA374977914 rs_1554809363

6 SubmittersRCV000633145RCV001285345RCV002385994RCV003480725
NM_001114753.3(ENG):c.911G>A (p.Arg304Gln) SNV
Germline		 Chr9:127824880 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252939 rs_753429934

3 SubmittersRCV000633132RCV003480724RCV006342420
NM_001114753.3(ENG):c.698C>T (p.Thr233Met) SNV
Germline		 Chr9:127825349 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5253010 rs_139767471

2 SubmittersRCV000633133RCV004992425
NM_001114753.3(ENG):c.1695T>C (p.His565=) SNV
Germline		 Chr9:127817195 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252676 rs_750637713

3 SubmittersRCV000633166RCV001166477RCV002413814
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
Clear cell carcinoma of kidney
Cervical cancer		 Criteria Provided
Conflicting Classifications
 CA5252951 rs_372045549

5 SubmittersRCV000633165RCV001165467RCV002292573RCV002413813RCV005900134RCV005900133
NM_001114753.3(ENG):c.360C>T (p.Tyr120=) SNV
Germline		 Chr9:127829687 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5253152 rs_121918402

5 SubmittersRCV000633148RCV002233948RCV004691966
NM_001114753.3(ENG):c.1169G>A (p.Trp390Ter) SNV
Germline		 Chr9:127820003 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374978738 rs_1564453619

3 SubmittersRCV002331335RCV002233161RCV003411600
NM_001114753.3(ENG):c.991+2T>C SNV
Germline		 Chr9:127824798 Pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374981837 rs_1564455554

4 SubmittersRCV001843954RCV002233635RCV005231284
NM_001114753.3(ENG):c.884C>T (p.Thr295Ile) SNV
Germline		 Chr9:127824907 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374982537 rs_12042

1 SubmittersRCV000692398
NM_001114753.3(ENG):c.1585C>T (p.Arg529Cys) SNV
Germline		 Chr9:127818221 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
not specified
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252722 rs_745316066

6 SubmittersRCV000707407RCV001000404RCV001840729RCV001816740RCV002397490
NM_001114753.3(ENG):c.1311G>T (p.Arg437=) SNV
Germline		 Chr9:127819622 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA467227926 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
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374982821 rs_121918400

3 SubmittersRCV002232930RCV002285403RCV005328362
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
 CA374982901 rs_1564455715

3 SubmittersRCV000694887RCV001285575RCV002424652
NM_001114753.3(ENG):c.68-3C>G SNV
Germline		 Chr9:127843248 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA891842534 rs_773334730

1 SubmittersRCV002233171
NM_001114753.3(ENG):c.23T>C (p.Leu8Pro) SNV
Germline		 Chr9:127854333 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989640 rs_1564466414

3 SubmittersRCV002232818RCV002442411RCV004792371
NM_001114753.3(ENG):c.1A>C (p.Met1Leu) SNV
Germline		 Chr9:127854355 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374989714 rs_1060501418

1 SubmittersRCV002232923
NM_001114753.3(ENG):c.1852+21C>G SNV
Germline		 Chr9:127815922 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
not specified		 Criteria Provided
Conflicting Classifications
 CA5252617 rs_147188969

3 SubmittersRCV000699684RCV001201352RCV004800544
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr) SNV
Germline		 Chr9:127824423 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5252899 rs_761463410

3 SubmittersRCV000690797RCV001771949RCV006342481
NM_001114753.3(ENG):c.621C>A (p.Cys207Ter) SNV
Germline		 Chr9:127825763 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374983618 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
 CA374989054 rs_1252348200

5 SubmittersRCV000693521RCV001287705RCV001766490RCV002388247
NM_001114753.3(ENG):c.1429-2A>G SNV
Germline		 Chr9:127818379 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374976276 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
 CA374983063 rs_1323617205

2 SubmittersRCV002233723RCV002493252
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
 CA5253052 rs_377548944

2 SubmittersRCV002233574RCV002499244
NM_001114753.3(ENG):c.88T>A (p.Cys30Ser) SNV
Germline		 Chr9:127843225 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374989178 rs_1564462834

1 SubmittersRCV000707597
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
 CA374983469 rs_1564455970

2 SubmittersRCV000728561RCV001383205
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
 CA374977972 rs_1434169817

10 SubmittersRCV000756074RCV001062873RCV001726323RCV002386313
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
 CA5252897 rs_772135786

4 SubmittersRCV000756076RCV001262049RCV002533781RCV003983196
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) SNV
Germline		 Chr9:127824892 Pathogenic/Likely pathogenic Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374982452 rs_1335718486

6 SubmittersRCV000757215RCV001263078RCV002370008RCV003594026
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
 CA5253050 rs_376919650

3 SubmittersRCV001085370RCV002360866RCV003640938
NM_001114753.3(ENG):c.686C>A (p.Ala229Asp) SNV
Germline		 Chr9:127825698 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA200313993 rs_971190119

3 SubmittersRCV000756084RCV001342874RCV006342526
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
 CA374989033 rs_1564462765

5 SubmittersRCV000756077RCV001262053RCV002397524RCV003594025
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter) SNV
Germline		 Chr9:127843216 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA374989154 rs_1564462827

1 SubmittersRCV000756081
NM_001114753.3(ENG):c.-188G>A SNV
Germline		 Chr9:127854543 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 CA200326880 rs_961480381

3 SubmittersRCV001165531RCV000756075RCV002533118
NM_001114753.3(ENG):c.726C>A (p.Cys242Ter) SNV
Germline		 Chr9:127825321 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA374983400 rs_545465750

1 SubmittersRCV000760356
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
 CA374973985 rs_1588574749

2 SubmittersRCV000806747RCV002397646
NM_001114753.3(ENG):c.1453G>T (p.Glu485Ter) SNV
Germline		 Chr9:127818353 Pathogenic Hereditary hemorrhagic telangiectasia
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA374976037 rs_997074986

2 SubmittersRCV000819516RCV005902080
NM_001114753.3(ENG):c.1088G>C (p.Cys363Ser) SNV
Germline		 Chr9:127824350 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374980745 rs_1588580782

1 SubmittersRCV000819037
NM_001114753.3(ENG):c.1055C>T (p.Pro352Leu) SNV
Germline		 Chr9:127824383 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA374981530 rs_1356571461

2 SubmittersRCV000816579RCV006252733
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
 CA374983007 rs_1588581785

2 SubmittersRCV000803704RCV002422749
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
ENG-related disorder		 Criteria Provided
Conflicting Classifications
 CA5253012 rs_200372420

5 SubmittersRCV000808290RCV001001189RCV002363083RCV004753049
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
 CA374983535 rs_1588582695

3 SubmittersRCV000807195RCV001254073RCV002360987
NM_001114753.3(ENG):c.633C>T (p.Gly211=) SNV
Germline		 Chr9:127825751 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA200314049 rs_928192105

2 SubmittersRCV000802410RCV003117593
NM_001114753.3(ENG):c.587G>A (p.Trp196Ter) SNV
Germline		 Chr9:127825797 Pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983677 rs_1588582870

4 SubmittersRCV000810183RCV002352402RCV004702439RCV004731040
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
 CA200314095 rs_1029569378

2 SubmittersRCV000799001RCV002345775
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) SNV
Germline		 Chr9:127826510 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374984091 rs_1588583488

5 SubmittersRCV000795117RCV001002467RCV004721607
NM_001114753.3(ENG):c.314T>A (p.Val105Asp) SNV
Germline		 Chr9:127829733 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374985916 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
 CA374986150 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
 CA374986424 rs_1588585997

2 SubmittersRCV000807334RCV002453812
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) SNV
Germline		 Chr9:127843147 Pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
See cases		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989010 rs_1588596879

4 SubmittersRCV000817651RCV001262058RCV003480867RCV004797881
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
 CA374981785 rs_1588580932

4 SubmittersRCV000821165RCV001263085RCV001664441
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
 CA374983476 rs_1588582594

2 SubmittersRCV000819340RCV001262066
NM_001114753.3(ENG):c.991+2T>G SNV
Germline		 Chr9:127824798 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374981834 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
 CA5253229 rs_755626994

3 SubmittersRCV001169537RCV001471442RCV002434114
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
 CA5252859 rs_79426098

2 SubmittersRCV000866966RCV001168718
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
not specified		 Criteria Provided
Conflicting Classifications
 CA5253124 rs_773521685

5 SubmittersRCV001167063RCV001434129RCV002320124RCV003432932RCV005408088
NM_001114753.3(ENG):c.1852+36G>T SNV
Germline		 Chr9:127815907 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA915947166 rs_1588572388

2 SubmittersRCV001000200RCV006250901
NM_001114753.3(ENG):c.1243C>T (p.Gln415Ter) SNV
Germline		 Chr9:127819929 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374978371 rs_1343053876

2 SubmittersRCV001000406RCV002382238
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter) SNV
Germline		 Chr9:127824953 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374982789 rs_1588581497

1 SubmittersRCV001001118
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter) SNV
Germline		 Chr9:127825796 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983674 rs_1588582860

3 SubmittersRCV001000381RCV002549132RCV006279278
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
 CA915947187 rs_1060501417

5 SubmittersRCV001000405RCV001217648RCV002454251RCV003480897
NM_001114753.3(ENG):c.219+23G>A SNV
Germline		 Chr9:127843071 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
Ovarian serous cystadenocarcinoma		 Criteria Provided
Conflicting Classifications
 CA5253203 rs_200726108

3 SubmittersRCV001002659RCV002264141RCV005912355
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
 CA374988970 rs_1588596830

2 SubmittersRCV001000992RCV001044486
NM_001114753.3(ENG):c.1734C>G (p.Asp578Glu) SNV
Unknown		 Chr9:127817156 Likely pathogenic Pulmonary arterial hypertension No Assertion Criteria Provided
 CA374973397 rs_374644720

1 SubmittersRCV001003748
NM_001114753.3(ENG):c.1678C>T (p.Gln560Ter) SNV
Germline		 Chr9:127818128 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374974001 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
 CA374975853 rs_1830384447

1 SubmittersRCV001059287
NM_001114753.3(ENG):c.1311G>A (p.Arg437=) SNV
Germline		 Chr9:127819622 Pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA467227928 rs_1554809448

4 SubmittersRCV001059848RCV001286216RCV002379579
NM_001114753.3(ENG):c.1241T>A (p.Met414Lys) SNV
Germline		 Chr9:127819931 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374978379 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
 CA374978388 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
 CA374978484 rs_1830433526

3 SubmittersRCV001058168RCV001819781RCV002348428
NM_001114753.3(ENG):c.653C>T (p.Ala218Val) SNV
Germline		 Chr9:127825731 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA374983549 rs_1435676276

2 SubmittersRCV001060351RCV005047267
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
 CA374983606 rs_1243079862

2 SubmittersRCV001057195RCV002365717
NM_001114753.3(ENG):c.494C>T (p.Pro165Leu) SNV
Germline		 Chr9:127826539 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374984149 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
 CA374986069 rs_1830715947

2 SubmittersRCV001040883RCV002436547
NM_001114753.3(ENG):c.943G>A (p.Val315Met) SNV
Germline		 Chr9:127824848 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5252934 rs_763508329

4 SubmittersRCV001873450RCV002445377RCV003640954RCV004792717
NM_001114753.3(ENG):c.523+1G>C SNV
Germline		 Chr9:127826509 Pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA200314431 rs_113930974

3 SubmittersRCV001091125RCV001862689RCV002339393
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
 CA5252612 rs_779974705

4 SubmittersRCV001169422RCV001297217RCV003973123
NM_001114753.3(ENG):c.1614A>G (p.Thr538=) SNV
Germline		 Chr9:127818192 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA467224451 rs_1247391985

3 SubmittersRCV001166479RCV005093695RCV005328546
NM_001114753.3(ENG):c.9C>T (p.Arg3=) SNV
Germline		 Chr9:127854347 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA5253266 rs_752431673

3 SubmittersRCV001169538RCV001478507RCV002379667
NM_001114753.3(ENG):c.774C>G (p.Tyr258Ter) SNV
Germline		 Chr9:127825273 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983244 rs_537154767

1 SubmittersRCV001172494
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
 CA374983246 rs_537154767

4 SubmittersRCV001221010RCV001262072
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
 CA374989025 rs_148475405

4 SubmittersRCV001217745RCV001262055RCV002402652
NM_001114753.3(ENG):c.806T>G (p.Met269Arg) SNV
Germline		 Chr9:127825241 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374983056 rs_752331196

1 SubmittersRCV001206664
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter) SNV
Germline		 Chr9:127843171 Pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989060 rs_1831082433

3 SubmittersRCV001206409RCV001286215RCV004792793
NM_001114753.3(ENG):c.689+2T>A SNV
Germline		 Chr9:127825693 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374983473 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
 CA374985618 rs_886039505

2 SubmittersRCV001219028RCV002451499
NM_001114753.3(ENG):c.1181G>A (p.Cys394Tyr) SNV
Germline		 Chr9:127819991 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA374978637 rs_1830434129

3 SubmittersRCV001228435RCV004699217RCV006258470
NM_001114753.3(ENG):c.866G>A (p.Gly289Asp) SNV
Germline		 Chr9:127824925 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374982638 rs_1830570208

1 SubmittersRCV001226702
NM_001114753.3(ENG):c.820A>G (p.Thr274Ala) SNV
Germline		 Chr9:127824971 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA374982882 rs_1370586541

2 SubmittersRCV001225533RCV005831810
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
 CA374983712 rs_1830602163

3 SubmittersRCV001229612RCV001508634RCV002348772
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
 CA5253119 rs_770290260

2 SubmittersRCV001225657RCV002484223
NM_001114753.3(ENG):c.910C>T (p.Arg304Trp) SNV
Germline		 Chr9:127824881 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA200313055 rs_754842280

3 SubmittersRCV001246781RCV004768972RCV006347591
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
 CA5253087 rs_147792018

2 SubmittersRCV001243876RCV002348827
NM_001114753.3(ENG):c.1686+5G>A SNV
Germline		 Chr9:127818115 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA1139659927 rs_1830374353

3 SubmittersRCV001231934RCV004778017RCV005831814
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
 CA915940735 rs_1830423993

2 SubmittersRCV001236499RCV002225129
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
 CA374989686 rs_1588604597

3 SubmittersRCV001253137RCV002246239RCV002570525
NM_001114753.3(ENG):c.1513G>T (p.Glu505Ter) SNV
Germline		 Chr9:127818293 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374975767 rs_1830383454

4 SubmittersRCV001262052RCV002393674RCV006466164
NM_001114753.3(ENG):c.1484T>C (p.Leu495Pro) SNV
Unknown		 Chr9:127818322 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374975873 rs_1830384577

1 SubmittersRCV001263072
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
 CA374976688 rs_1830395639

4 SubmittersRCV001263068RCV002393677RCV002537646
NM_001114753.3(ENG):c.1384C>T (p.Gln462Ter) SNV
Unknown		 Chr9:127818760 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374977118 rs_1830397703

1 SubmittersRCV001263067
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
 CA374977422 rs_774943840

3 SubmittersRCV001263066RCV003481040RCV003594125
NM_001114753.3(ENG):c.1311+5G>C SNV
Unknown		 Chr9:127819617 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA1139659935 rs_1830423993

1 SubmittersRCV001263063
NM_001114753.3(ENG):c.1273-2A>T SNV
Unknown		 Chr9:127819662 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374978172 rs_373842615

1 SubmittersRCV001262091
NM_001114753.3(ENG):c.1268A>G (p.Asn423Ser) SNV
Germline		 Chr9:127819904 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided
not specified
ENG-related disorder
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Reviewed By Expert Panel
 CA374978246 rs_1830431553

7 SubmittersRCV001262090RCV001785803RCV001819966RCV003405470RCV004035394RCV006466165
NM_001114753.3(ENG):c.1183G>T (p.Glu395Ter) SNV
Unknown		 Chr9:127819989 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374978629 rs_1830434079

1 SubmittersRCV001262088
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp) SNV
Germline		 Chr9:127824868 Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374982277 rs_1482440395

5 SubmittersRCV001263079RCV001880054RCV002375316RCV004753257
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
 CA374982466 rs_1830569662

2 SubmittersRCV001262076RCV001880033
NM_001114753.3(ENG):c.817-1G>A SNV
Unknown		 Chr9:127824975 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374982904 rs_1564455715

1 SubmittersRCV001262075
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys) SNV
Unknown		 Chr9:127825284 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983301 rs_1830580925

1 SubmittersRCV001262069
NM_001114753.3(ENG):c.690-2A>G SNV
Unknown		 Chr9:127825359 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983470 rs_1564455970

1 SubmittersRCV001262067
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
 CA374983566 rs_1830597676

2 SubmittersRCV001262064RCV002537627
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr) SNV
Unknown		 Chr9:127825764 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983621 rs_1830599119

1 SubmittersRCV001263077
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
 CA374985820 rs_1830713927

2 SubmittersRCV001263073RCV001880053
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) SNV
Unknown		 Chr9:127843105 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374988897 rs_1179814153

1 SubmittersRCV001262060
NM_001114753.3(ENG):c.-10C>T SNV
Germline		 Chr9:127854365 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
ENG-related disorder		 Criteria Provided
Conflicting Classifications
 CA5253270 rs_756994701

5 SubmittersRCV001268056RCV001880157RCV002430065RCV003405477
NM_001114753.3(ENG):c.1807G>A (p.Gly603Arg) SNV
Germline		 Chr9:127815988 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Reviewed By Expert Panel
 CA374971982 rs_1830302008

4 SubmittersRCV001289606RCV002411932RCV003594127
NM_001114753.3(ENG):c.1645T>G (p.Cys549Gly) SNV
Germline		 Chr9:127818161 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Reviewed By Expert Panel
 CA374974153 rs_1830376644

4 SubmittersRCV001289855RCV003759041
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
 CA5252766 rs_376169815

2 SubmittersRCV001286942RCV003759039
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
 CA5252845 rs_751787590

2 SubmittersRCV001286121RCV001871683
NM_001114753.3(ENG):c.620G>T (p.Cys207Phe) SNV
Germline		 Chr9:127825764 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983619 rs_1830599119

1 SubmittersRCV001287270
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
 CA374983441 rs_1588582073

2 SubmittersRCV001297411RCV002366125
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
 CA200320717 rs_927607049

2 SubmittersRCV001309474RCV003485705
NM_001114753.3(ENG):c.1234T>G (p.Cys412Gly) SNV
Germline		 Chr9:127819938 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374978392 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
 CA374983335 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
 CA374986088 rs_2131895129

1 SubmittersRCV001377783
NM_001114753.3(ENG):c.1687G>T (p.Glu563Ter) SNV
Germline		 Chr9:127817203 Pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374973819 rs_2131873923

3 SubmittersRCV001390809RCV002404909RCV006279671
NM_001114753.3(ENG):c.1687-2A>G SNV
Germline		 Chr9:127817205 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374973835 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
 CA374976518 rs_965119099

2 SubmittersRCV001388267RCV002395875
NM_001114753.3(ENG):c.1134G>C (p.Ala378=) SNV
Germline		 Chr9:127824304 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA467230560 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
 CA374983058 rs_752331196

2 SubmittersRCV001381129RCV002420857
NM_001114753.3(ENG):c.690-1G>C SNV
Germline		 Chr9:127825358 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374983466 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
 CA374984090 rs_113930974

2 SubmittersRCV001387969RCV002341830
NM_001114753.3(ENG):c.360+1G>C SNV
Germline		 Chr9:127829686 Pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374985622 rs_886039505

2 SubmittersRCV001390952RCV002456608
NM_001114753.3(ENG):c.992-5C>A SNV
Germline		 Chr9:127824451 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
not specified		 Criteria Provided
Conflicting Classifications
 CA5252903 rs_765715581

2 SubmittersRCV001474089RCV005057431
NM_001114753.3(ENG):c.1429-1G>A SNV
Germline		 Chr9:127818378 Pathogenic/Likely pathogenic Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374976262 rs_2131876244

5 SubmittersRCV001507758RCV002225135
NM_001114753.3(ENG):c.586T>C (p.Trp196Arg) SNV
Germline		 Chr9:127825798 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983680 rs_2131889336

4 SubmittersRCV001533004RCV002359157RCV005620316
NM_001114753.3(ENG):c.68-17G>A SNV
Germline		 Chr9:127843262 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5253238 rs_570198729

3 SubmittersRCV001551906RCV001859372RCV005865510
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) SNV
Germline		 Chr9:127825283 Conflicting classifications of pathogenicity Condition: not provided
Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 CA374983293 rs_2131887828

3 SubmittersRCV001592377RCV002388618RCV002592491
NM_001114753.3(ENG):c.296T>A (p.Leu99His) SNV
Germline		 Chr9:127829751 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374986037 rs_2131895111

1 SubmittersRCV001730109
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) SNV
Germline		 Chr9:127825803 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA374983690 rs_2131889364

3 SubmittersRCV001756534RCV002539874RCV002359230
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
 CA374978831 rs_2131879350

2 SubmittersRCV001767411RCV002544078
NM_001114753.3(ENG):c.524-1G>A SNV
Unknown		 Chr9:127825861 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983813 rs_2131889572

1 SubmittersRCV001801298
NM_001114753.3(ENG):c.219+2T>C SNV
Germline		 Chr9:127843092 Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374988824 rs_2131918332

3 SubmittersRCV001803568RCV001885245RCV002425077
NM_001114753.3(ENG):c.788T>G (p.Ile263Ser) SNV
Germline		 Chr9:127825259 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374983166 rs_1085307431

1 SubmittersRCV001803611
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
 CA374980748 rs_2131885848

2 SubmittersRCV001802294RCV002541358
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
 CA374973828 rs_1554809106

4 SubmittersRCV001806990RCV002482336RCV002397756RCV002541392
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) SNV
Germline		 Chr9:127843225 Likely pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989177 rs_1564462834

4 SubmittersRCV001810349RCV002542422RCV005831970
NM_001114753.3(ENG):c.1686+1G>T SNV
Germline		 Chr9:127818119 Pathogenic Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374973964 rs_1554809228

2 SubmittersRCV001843976RCV003120720
NM_001114753.3(ENG):c.67+2T>C SNV
Germline		 Chr9:127854287 Pathogenic/Likely pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989483 rs_2131936480

3 SubmittersRCV001843980RCV001869863RCV002361083
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) SNV
Germline		 Chr9:127824341 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA200312607 rs_932659087

2 SubmittersRCV001919362RCV006357089
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) SNV
Germline		 Chr9:127824398 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5252894 rs_150829904

2 SubmittersRCV001965332RCV005042565
NM_001114753.3(ENG):c.1517T>A (p.Leu506His) SNV
Germline		 Chr9:127818289 Likely pathogenic Hereditary hemorrhagic telangiectasia
ENG-related disorder
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided		 Reviewed By Expert Panel
 CA5252743 rs_778594104

4 SubmittersRCV001966153RCV003408025RCV005253990RCV005428451
NM_001114753.3(ENG):c.149C>A (p.Ser50Ter) SNV
Germline		 Chr9:127843164 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374989044 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
 CA374986395 rs_763992842

2 SubmittersRCV001884462RCV002449534
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
 CA2573143969 rs_1554812252

2 SubmittersRCV001992088RCV002423216
NM_001114753.3(ENG):c.512G>A (p.Arg171Gln) SNV
Germline		 Chr9:127826521 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5253114 rs_756980265

2 SubmittersRCV001982601RCV005397187
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
 CA374983464 rs_1289232116

2 SubmittersRCV001931162RCV003167221
NM_001114753.3(ENG):c.1645T>A (p.Cys549Ser) SNV
Germline		 Chr9:127818161 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374974158 rs_1830376644

1 SubmittersRCV001966971
NM_001114753.3(ENG):c.487A>T (p.Asn163Tyr) SNV
Germline		 Chr9:127826546 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications
 CA200314449 rs_539165395

2 SubmittersRCV001976177RCV006357180
NM_001114753.3(ENG):c.1429-1G>C SNV
Germline		 Chr9:127818378 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374976256 rs_2131876244

1 SubmittersRCV001975130
NM_001114753.3(ENG):c.1427A>T (p.Gln476Leu) SNV
Germline		 Chr9:127818717 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA374976498 rs_1830394955

2 SubmittersRCV001989940RCV005638351
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
 CA374977960 rs_2131877148

2 SubmittersRCV001980286RCV002386858
NM_001114753.3(ENG):c.68-18C>A SNV
Germline		 Chr9:127843263 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA2573143979 rs_372807542

1 SubmittersRCV002027402
NM_001114753.3(ENG):c.770C>T (p.Pro257Leu) SNV
Germline		 Chr9:127825277 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5252987 rs_756252418

2 SubmittersRCV001915087RCV005642659
NM_001114753.3(ENG):c.1241T>G (p.Met414Arg) SNV
Germline		 Chr9:127819931 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374978377 rs_1830432509

1 SubmittersRCV002009785
NM_001114753.3(ENG):c.1096G>A (p.Asp366Asn) SNV
Germline		 Chr9:127824342 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5252882 rs_1800956

3 SubmittersRCV001880396RCV005040426RCV005627437
NM_001114753.3(ENG):c.619T>C (p.Cys207Arg) SNV
Germline		 Chr9:127825765 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983623 rs_2131889169

2 SubmittersRCV002020601RCV002352744
NM_001114753.3(ENG):c.1529G>A (p.Arg510Gln) SNV
Germline		 Chr9:127818277 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5252738 rs_199629212

2 SubmittersRCV001925935RCV005042509
NM_001114753.3(ENG):c.1134+1G>A SNV
Germline		 Chr9:127824303 Pathogenic Hereditary hemorrhagic telangiectasia
Juvenile polyposis syndrome
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Single Submitter
 CA374980580 rs_112809381

2 SubmittersRCV001909060RCV005863555
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
 CA5253070 rs_767850408

2 SubmittersRCV002018356RCV003418339
NM_001114753.3(ENG):c.662T>G (p.Leu221Arg) SNV
Germline		 Chr9:127825722 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA374983527 rs_1554810378

2 SubmittersRCV001901676RCV006257344
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
 CA2573143993 rs_2131886797

2 SubmittersRCV001979778RCV002386800
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
 CA5253260 rs_764472279

2 SubmittersRCV001983824RCV004045325
NM_001114753.3(ENG):c.200T>C (p.Leu67Pro) SNV
Germline		 Chr9:127843113 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA374988938 rs_2131918396

3 SubmittersRCV002041280RCV005638354
NM_001114753.3(ENG):c.1480C>G (p.His494Asp) SNV
Germline		 Chr9:127818326 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5252751 rs_775718026

2 SubmittersRCV001890376RCV006256962
NM_001114753.3(ENG):c.1559T>C (p.Leu520Pro) SNV
Germline		 Chr9:127818247 Likely pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374975563 rs_2131875808

3 SubmittersRCV002012464RCV004990546RCV005638353
NM_001114753.3(ENG):c.1039A>T (p.Lys347Ter) SNV
Germline		 Chr9:127824399 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374981647 rs_1446116085

1 SubmittersRCV002236394
NM_001114753.3(ENG):c.974T>G (p.Leu325Arg) SNV
Germline		 Chr9:127824817 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 CA374981980 rs_760001916

1 SubmittersRCV002273053
NM_001114753.3(ENG):c.1134+1G>T SNV
Germline		 Chr9:127824303 Pathogenic/Likely pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374980577 rs_112809381

2 SubmittersRCV002324714RCV006558933
NM_001114753.3(ENG):c.1146C>A (p.Cys382Ter) SNV
Germline		 Chr9:127820026 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374978882 rs_2539064456

1 SubmittersRCV002337620
NM_001114753.3(ENG):c.1146C>G (p.Cys382Trp) SNV
Germline		 Chr9:127820026 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374978880 rs_2539064456

1 SubmittersRCV002454847
NM_001114753.3(ENG):c.361-2A>G SNV
Germline		 Chr9:127826674 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374984496 rs_2539078164

1 SubmittersRCV002452225
NM_001114753.3(ENG):c.361-2A>T SNV
Germline		 Chr9:127826674 Pathogenic Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374984493 rs_2539078164

2 SubmittersRCV002452226RCV003120905
NM_001114753.3(ENG):c.3G>T (p.Met1Ile) SNV
Germline		 Chr9:127854353 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374989704 rs_2539126528

1 SubmittersRCV002375655
NM_001114753.3(ENG):c.1170G>A (p.Trp390Ter) SNV
Germline		 Chr9:127820002 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374978714 rs_2539064376

4 SubmittersRCV002331870RCV003775864RCV004721049
NM_001114753.3(ENG):c.447G>A (p.Trp149Ter) SNV
Germline		 Chr9:127826586 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374984253 rs_878853657

2 SubmittersRCV002328550RCV006470718
NM_001114753.3(ENG):c.545G>A (p.Cys182Tyr) SNV
Germline		 Chr9:127825839 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374983766 rs_1370852588

1 SubmittersRCV002349710
NM_001114753.3(ENG):c.121G>T (p.Glu41Ter) SNV
Germline		 Chr9:127843192 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374989108 rs_199675436

1 SubmittersRCV002353988
NM_001114753.3(ENG):c.1211T>C (p.Val404Ala) SNV
Germline		 Chr9:127819961 Conflicting classifications of pathogenicity Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 CA374978466 rs_2539064206

2 SubmittersRCV002355851RCV005096867
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
 CA374983632 rs_751778614

2 SubmittersRCV002360429RCV003759144
NM_001114753.3(ENG):c.523+5G>C SNV
Germline		 Chr9:127826505 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA2580079697 rs_2539077593

1 SubmittersRCV002340857
NM_001114753.3(ENG):c.523G>A (p.Ala175Thr) SNV
Germline		 Chr9:127826510 Pathogenic Hereditary hemorrhagic telangiectasia
Cardiovascular phenotype		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374984093 rs_1588583488

2 SubmittersRCV003994427RCV002344335
NM_001114753.3(ENG):c.523G>C (p.Ala175Pro) SNV
Germline		 Chr9:127826510 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374984092 rs_1588583488

2 SubmittersRCV002344336RCV005096756
NM_001114753.3(ENG):c.524-1G>T SNV
Germline		 Chr9:127825861 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374983811 rs_2131889572

1 SubmittersRCV002344338
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
 CA374982816 rs_2539073270

2 SubmittersRCV002412580RCV003594243
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
 CA374982291 rs_779815395

2 SubmittersRCV002371252RCV003594246
NM_001114753.3(ENG):c.689+1G>T SNV
Germline		 Chr9:127825694 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374983474 rs_1588582594

2 SubmittersRCV002362284RCV003103343
NM_001114753.3(ENG):c.917T>C (p.Leu306Pro) SNV
Germline		 Chr9:127824874 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374982314 rs_2539072930

1 SubmittersRCV002378899
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
 CA374989159 rs_2539107650

2 SubmittersRCV002385295RCV003103594
NM_001114753.3(ENG):c.816+5G>C SNV
Germline		 Chr9:127825226 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA2580079651 rs_2539073850

1 SubmittersRCV002421435
NM_001114753.3(ENG):c.1517T>C (p.Leu506Pro) SNV
Germline		 Chr9:127818289 Pathogenic/Likely pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374975745 rs_778594104

3 SubmittersRCV002392350RCV005097565RCV005620318
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
 CA374989029 rs_2539107399

2 SubmittersRCV002405785RCV003759685
NM_001114753.3(ENG):c.990C>A (p.Cys330Ter) SNV
Germline		 Chr9:127824801 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374981863 rs_369202854

3 SubmittersRCV002382786RCV003759659RCV004594644
NM_001114753.3(ENG):c.991+1G>C SNV
Germline		 Chr9:127824799 Pathogenic Cardiovascular phenotype
Condition: not provided
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374981852 rs_2539072627

3 SubmittersRCV002382809RCV006272487RCV006469963
NM_001114753.3(ENG):c.1310G>C (p.Arg437Pro) SNV
Germline		 Chr9:127819623 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374977971 rs_989537576

1 SubmittersRCV002385440
NM_001114753.3(ENG):c.1311+1G>C SNV
Germline		 Chr9:127819621 Pathogenic Cardiovascular phenotype
Nonpapillary renal cell carcinoma		 Criteria Provided
Single Submitter
 CA200305376 rs_112972846

2 SubmittersRCV002385442RCV005931892
NM_001114753.3(ENG):c.1311+2T>A SNV
Germline		 Chr9:127819620 Pathogenic Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Ovarian serous cystadenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA200305375 rs_111694746

3 SubmittersRCV002385443RCV003594256RCV005931893
NM_001114753.3(ENG):c.1311+2T>G SNV
Germline		 Chr9:127819620 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374977967 rs_111694746

1 SubmittersRCV002385444
NM_001114753.3(ENG):c.1312-2A>G SNV
Germline		 Chr9:127818834 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374977964 rs_2539061224

1 SubmittersRCV002385472
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
 CA374981757 rs_2539071297

2 SubmittersRCV002405361RCV003096932
NM_001114753.3(ENG):c.1883C>T (p.Ala628Val) SNV
Germline		 Chr9:127815776 Conflicting classifications of pathogenicity Cardiovascular phenotype
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5252588 rs_757113987

3 SubmittersRCV002415345RCV005232977
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
 CA374978000 rs_2539063234

2 SubmittersRCV002380858RCV003594254
NM_001114753.3(ENG):c.1686+1G>C SNV
Germline		 Chr9:127818119 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374973967 rs_1554809228

1 SubmittersRCV002406084
NM_001114753.3(ENG):c.1900T>G (p.Ser634Ala) SNV
Germline		 Chr9:127815759 Conflicting classifications of pathogenicity Cardiovascular phenotype
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA200301183 rs_1040594389

2 SubmittersRCV002408265RCV005645389
NM_001114753.3(ENG):c.1088G>A (p.Cys363Tyr) SNV
Germline		 Chr9:127824350 Pathogenic/Likely pathogenic Cardiovascular phenotype
Condition: not provided
ENG-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374980744 rs_1588580782

3 SubmittersRCV002428362RCV005622178RCV003984260
NM_001114753.3(ENG):c.1109T>C (p.Leu370Pro) SNV
Germline		 Chr9:127824329 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374980705 rs_1830547696

1 SubmittersRCV002428851
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
 CA374986198 rs_2539083228

2 SubmittersRCV002437473RCV003594298
NM_001114753.3(ENG):c.1120A>G (p.Lys374Glu) SNV
Germline		 Chr9:127824318 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374980663 rs_2539070821

1 SubmittersRCV002439860
NM_001114753.3(ENG):c.1414C>T (p.Gln472Ter) SNV
Germline		 Chr9:127818730 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374976660 rs_2539060865

2 SubmittersRCV003062233RCV005254690
NM_001114753.3(ENG):c.1311+2T>C SNV
Germline		 Chr9:127819620 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Ovarian serous cystadenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374977968 rs_111694746

4 SubmittersRCV003062234RCV004594664RCV005930313
NM_001114753.3(ENG):c.932T>G (p.Val311Gly) SNV
Germline		 Chr9:127824859 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374982196 rs_2539072864

1 SubmittersRCV003062235
NM_001114753.3(ENG):c.1311+1G>A SNV
Germline		 Chr9:127819621 Pathogenic/Likely pathogenic Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1
Nonpapillary renal cell carcinoma
Ovarian serous cystadenocarcinoma		 Criteria Provided
Multiple Submitters
No Conflicts
 CA200305377 rs_112972846

4 SubmittersRCV003061568RCV005001348RCV005870012RCV005930406RCV005930407
NM_001114753.3(ENG):c.665G>A (p.Arg222Lys) SNV
Germline		 Chr9:127825719 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5253057 rs_778438920

2 SubmittersRCV003115652RCV006451359
NM_001114753.3(ENG):c.706G>A (p.Val236Met) SNV
Germline		 Chr9:127825341 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA5253007 rs_754136153

1 SubmittersRCV002625890
NM_001114753.3(ENG):c.974T>A (p.Leu325His) SNV
Germline		 Chr9:127824817 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA5252931 rs_760001916

2 SubmittersRCV002794866RCV006451274
NM_001114753.3(ENG):c.146T>A (p.Val49Asp) SNV
Germline		 Chr9:127843167 Likely pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989051 rs_2539107437

2 SubmittersRCV002820784RCV005045002
NM_001114753.3(ENG):c.1478G>T (p.Cys493Phe) SNV
Germline		 Chr9:127818328 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374975898 rs_1830384847

1 SubmittersRCV002828202
NM_001114753.3(ENG):c.360+2T>C SNV
Germline		 Chr9:127829685 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374985611 rs_2539082925

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
 CA200326757 rs_971268057

2 SubmittersRCV002922032RCV004066292
NM_001114753.3(ENG):c.1214T>C (p.Leu405Ser) SNV
Germline		 Chr9:127819958 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374978452 rs_2539064198

1 SubmittersRCV003059185
NM_001114753.3(ENG):c.68-2A>T SNV
Germline		 Chr9:127843247 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374989224 rs_2539107745

1 SubmittersRCV003055698
NM_001114753.3(ENG):c.1099G>A (p.Ala367Thr) SNV
Germline		 Chr9:127824339 Conflicting classifications of pathogenicity Cardiovascular phenotype
Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA5252880 rs_372371435

3 SubmittersRCV004109057RCV005099626RCV005045405
NM_001114753.3(ENG):c.991+2T>A SNV
Germline		 Chr9:127824798 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 No Assertion Criteria Provided
 CA374981840 rs_1564455554

1 SubmittersRCV003485873
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
 CA374989175 rs_2539107670

2 SubmittersRCV003360710RCV003594654
NM_001114753.3(ENG):c.506T>C (p.Leu169Pro) SNV
Germline		 Chr9:127826527 Likely pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter
 CA374984123 rs_2539077645

1 SubmittersRCV003358447
NM_001114753.3(ENG):c.219+2T>A SNV
Germline		 Chr9:127843092 Likely pathogenic ENG-related disorder
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Single Submitter
 CA374988826 rs_2131918332

2 SubmittersRCV003391423RCV005932767
NM_001114753.3(ENG):c.1522C>T (p.Gln508Ter) SNV
Germline		 Chr9:127818284 Pathogenic ENG-related disorder
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374975723 rs_2539059621

2 SubmittersRCV003394405RCV006473122
NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter) SNV
Germline		 Chr9:127824360 Pathogenic Condition: not provided Criteria Provided
Single Submitter
 CA374980768 rs_2539070987

1 SubmittersRCV003480477
NM_001114753.3(ENG):c.1402G>T (p.Glu468Ter) SNV
Germline		 Chr9:127818742 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374976825 rs_370554511

3 SubmittersRCV003484561RCV003594704RCV006276338
NM_001114753.3(ENG):c.1310G>A (p.Arg437Gln) SNV
Germline		 Chr9:127819623 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications
 CA200305378 rs_989537576

3 SubmittersRCV003594863RCV004701086RCV005230519
NM_001114753.3(ENG):c.219+2T>G SNV
Germline		 Chr9:127843092 Pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1
Thyroid cancer, nonmedullary, 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374988822 rs_2131918332

3 SubmittersRCV003593582RCV006548648RCV005931490
NM_001114753.3(ENG):c.1309C>G (p.Arg437Gly) SNV
Germline		 Chr9:127819624 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374977973 rs_1434169817

1 SubmittersRCV003593374
NM_001114753.3(ENG):c.816+2T>C SNV
Germline		 Chr9:127825229 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374982987 rs_1271981862

1 SubmittersRCV003593375
NM_001114753.3(ENG):c.361-11T>A SNV
Germline		 Chr9:127826683 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA2695211330 rs_2539078181

1 SubmittersRCV003593376
NM_001114753.3(ENG):c.3G>A (p.Met1Ile) SNV
Germline		 Chr9:127854353 Pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374989707 rs_2539126528

2 SubmittersRCV003593379RCV006255903
NM_001114753.3(ENG):c.1180T>C (p.Cys394Arg) SNV
Germline		 Chr9:127819992 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374978643 rs_2539064327

1 SubmittersRCV003593809
NM_001114753.3(ENG):c.674C>A (p.Pro225Gln) SNV
Germline		 Chr9:127825710 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA374983506 rs_781715616

2 SubmittersRCV003759913RCV005628984
NM_001114753.3(ENG):c.895C>G (p.Leu299Val) SNV
Germline		 Chr9:127824896 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374982480 rs_2539073045

1 SubmittersRCV003758298
NM_001114753.3(ENG):c.1087T>G (p.Cys363Gly) SNV
Germline		 Chr9:127824351 Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts
 CA374980746 rs_2131885848

2 SubmittersRCV003988969RCV005103167
NM_001114753.3(ENG):c.1280T>G (p.Val427Gly) SNV
Germline		 Chr9:127819653 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter
 CA374978119 rs_2539063296

1 SubmittersRCV003994637
NM_001114753.3(ENG):c.683C>T (p.Ser228Leu) SNV
Germline		 Chr9:127825701 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications
 rs_1452543778

2 SubmittersRCV004577216RCV006564972
NM_001114753.3(ENG):c.1583C>T (p.Pro528Leu) SNV
Germline		 Chr9:127818223 Conflicting classifications of pathogenicity Condition: not provided
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004598599RCV005102072
NM_001114753.3(ENG):c.1298C>G (p.Ser433Ter) SNV
Germline		 Chr9:127819635 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004697375
NM_001114753.3(ENG):c.987C>G (p.Ser329Arg) SNV
Germline		 Chr9:127824804 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV004765083
NM_001114753.3(ENG):c.485T>G (p.Leu162Arg) SNV
Germline		 Chr9:127826548 Likely pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV004697377
NM_001114753.3(ENG):c.1895C>T (p.Pro632Leu) SNV
Germline		 Chr9:127815764 Conflicting classifications of pathogenicity not specified
Cardiovascular phenotype		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV004700170RCV006348035
NM_001114753.3(ENG):c.1687-1G>C SNV
Germline		 Chr9:127817204 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV004720670
NM_001114753.3(ENG):c.1134+1G>C SNV
Germline		 Chr9:127824303 Pathogenic ENG-related disorder
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Single Submitter

2 SubmittersRCV004731993RCV005103633
NM_001114753.3(ENG):c.1833G>A (p.Trp611Ter) SNV
Germline		 Chr9:127815962 Pathogenic/Likely pathogenic Condition: not provided
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV004792212RCV005105113
NM_001114753.3(ENG):c.-142A>T SNV
Germline		 Chr9:127854497 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 No Assertion Criteria Provided

1 SubmittersRCV004794701
NM_001114753.3(ENG):c.1433G>T (p.Arg478Ile) SNV
Germline		 Chr9:127818373 Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic, type 1
Hereditary hemorrhagic telangiectasia		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005043838RCV005063332
NM_001114753.3(ENG):c.1267A>C (p.Asn423His) SNV
Germline		 Chr9:127819905 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005117475
NM_001114753.3(ENG):c.523+2T>C SNV
Germline		 Chr9:127826508 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005128783
NM_001114753.3(ENG):c.763G>C (p.Gly255Arg) SNV
Germline		 Chr9:127825284 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005133904
NM_001114753.3(ENG):c.112G>T (p.Glu38Ter) SNV
Germline		 Chr9:127843201 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005125526
NM_001114753.3(ENG):c.360C>G (p.Tyr120Ter) SNV
Germline		 Chr9:127829687 Pathogenic Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Multiple Submitters
No Conflicts

2 SubmittersRCV005131245RCV005230844
NM_001114753.3(ENG):c.1240A>G (p.Met414Val) SNV
Germline		 Chr9:127819932 Likely pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005139342
NM_001114753.3(ENG):c.520C>T (p.Gln174Ter) SNV
Germline		 Chr9:127826513 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005188577
NM_001114753.3(ENG):c.496C>T (p.Gln166Ter) SNV
Germline		 Chr9:127826537 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005206191
NM_001114753.3(ENG):c.1134+2T>C SNV
Germline		 Chr9:127824302 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005201334
NM_001114753.3(ENG):c.1428G>A (p.Gln476=) SNV
Germline		 Chr9:127818716 Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia
Telangiectasia, hereditary hemorrhagic, type 1		 Criteria Provided
Conflicting Classifications

2 SubmittersRCV005200777RCV005638362
NM_001114753.3(ENG):c.1103T>C (p.Met368Thr) SNV
Germline		 Chr9:127824335 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005200778
NM_001114753.3(ENG):c.971C>A (p.Ser324Ter) SNV
Germline		 Chr9:127824820 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV005195810
NM_001114753.3(ENG):c.1686+2T>A SNV
Germline		 Chr9:127818118 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005234444
NM_001114753.3(ENG):c.817-3T>G SNV
Germline		 Chr9:127824977 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 No Assertion Criteria Provided

1 SubmittersRCV005398042
NM_001114753.3(ENG):c.1741+2T>C SNV
Germline		 Chr9:127817147 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005636382
NM_001114753.3(ENG):c.1135-1G>A SNV
Germline		 Chr9:127820038 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter
 rs_2539064493

1 SubmittersRCV005638375
NM_001114753.3(ENG):c.68-1G>C SNV
Germline		 Chr9:127843246 Pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005640604
NM_001114753.3(ENG):c.95T>G (p.Leu32Arg) SNV
Germline		 Chr9:127843218 Likely pathogenic Telangiectasia, hereditary hemorrhagic, type 1 Criteria Provided
Single Submitter

1 SubmittersRCV005880976
NM_001114753.3(ENG):c.583G>T (p.Glu195Ter) SNV
Unknown		 Chr9:127825801 Likely pathogenic See cases Criteria Provided
Single Submitter

1 SubmittersRCV006249149
NM_001114753.3(ENG):c.1087T>A (p.Cys363Ser) SNV
Germline		 Chr9:127824351 Pathogenic Cardiovascular phenotype Criteria Provided
Single Submitter

1 SubmittersRCV006360993
NM_001114753.3(ENG):c.68-2A>G SNV
Germline		 Chr9:127843247 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV006513346
NM_001114753.3(ENG):c.1548T>A (p.Cys516Ter) SNV
Germline		 Chr9:127818258 Pathogenic Hereditary hemorrhagic telangiectasia Criteria Provided
Single Submitter

1 SubmittersRCV006529849
NM_001114753.3(ENG):c.816+2T>A SNV
Germline		 Chr9:127825229 Pathogenic Condition: not provided Criteria Provided
Single Submitter

1 SubmittersRCV006606114