PMID: 15879500

Hereditary haemorrhagic telangiectasia: current views on genetics and mechanisms of disease.

Journal of medical genetics
SA Abdalla, M Letarte
2006-02

216 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
9-130587544-C-T ENG c.782G>A p.Trp261* Nonsense 6/14 -
12-52309891-C-T ACVRL1 c.1120C>T p.Arg374Trp Missense 8/10 -
9-130605435-A-G ENG c.157T>C p.Cys53Arg Missense 2/14 -
9-130588801-G-A ENG c.511C>T p.Arg171* Nonsense 4/14 -
12-52307768-A-C ACVRL1 c.536A>C p.Asp179Ala Missense 5/10 -
12-52306966-G-C ACVRL1 c.145G>C p.Ala49Pro Missense 3/10 -
9-130587079-C-T ENG c.991G>A p.Gly331Ser Missense 7/14 -
9-130580616-A-C ENG c.1469T>G p.Leu490* Nonsense 12/14 -
18-48591891-G-A SMAD4 c.1054G>A p.Gly352Arg Missense 9/12 -
12-52307020-C-T ACVRL1 c.199C>T p.Arg67Trp Missense 3/10 -
12-52306963-G-A ACVRL1 c.142G>A p.Gly48Arg Missense 3/10 -
12-52308293-CCTC-C ACVRL1 c.696_698delCTC p.Ser233delSer InFrameDeletion 6/10 -
12-52309898-T-G ACVRL1 c.1127T>G p.Met376Arg Missense 8/10 -
9-130605524-C-T ENG c.68G>A p.Ser23Asn Missense 2/14 -
9-130579454-A-T ENG c.1715T>A p.Leu572* Nonsense 13/14 -
12-52309897-A-G ACVRL1 c.1126A>G p.Met376Val Missense 8/10 -
12-52312797-C-G ACVRL1 c.1275C>G p.Phe425Leu Missense 9/10 -
12-52309259-C-G ACVRL1 c.1023C>G p.Asn341Lys Missense 7/10 -
9-130578280-A-C ENG c.1794T>G p.Gly598Gly Synonymous 14/14 -
9-130588073-C-T ENG c.590G>A p.Arg197Gln Missense 5/14 -
12-52309267-G-T ACVRL1 c.1031G>T p.Cys344Phe Missense 7/10 -
12-52309224-G-A ACVRL1 c.988G>A p.Asp330Asn Missense 7/10 -
12-52309267-G-A ACVRL1 c.1031G>A p.Cys344Tyr Missense 7/10 -
12-52309246-T-C ACVRL1 c.1010T>C p.Leu337Pro Missense 7/10 -
12-52309222-G-A ACVRL1 c.986G>A p.Arg329His Missense 7/10 -
12-52314600-C-T ACVRL1 c.1435C>T p.Arg479* Nonsense 10/10 -
9-130587151-TTGAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGGTGTGT-T ENG c.882_920del39 p.Thr295_asn307del InFrameDeletion 7/14 -
9-130588833-G-T ENG c.479C>A p.Ala160Asp Missense 4/14 -
12-52309894-T-C ACVRL1 c.1123T>C p.Tyr375His Missense 8/10 -
9-130587153-A-G ENG c.917T>C p.Leu306Pro Missense 7/14 -
18-48591918-C-G SMAD4 c.1081C>G p.Arg361Gly Missense 9/12 -
9-130587239-G-C ENG c.831C>G p.Tyr277* Nonsense 7/14 -
9-130586583-C-T ENG c.1134G>A p.Ala378Ala Synonymous 8/14 -
9-130588920-G-A ENG c.392C>T p.Pro131Leu Missense 4/14 -
12-52312792-C-T ACVRL1 c.1270C>T p.Pro424Ser Missense 9/10 -
9-130586629-C-T ENG c.1088G>A p.Cys363Tyr Missense 8/14 -
12-52309904-C-A ACVRL1 c.1133C>A p.Pro378His Missense 8/10 -
12-52309275-G-C ACVRL1 c.1039G>C p.Ala347Pro Missense 7/10 -
9-130587545-A-G ENG c.781T>C p.Trp261Arg Missense 6/14 -
9-130605450-G-A ENG c.142C>T p.Gln48* Nonsense 2/14 -
9-130581105-C-CT ENG c.1317_1318insA p.Val440Serfs*61 Frameshift 11/14 -
9-130580995-C-T ENG c.1428G>A p.Gln476Gln Synonymous 11/14 -
12-52309234-G-T ACVRL1 c.998G>T p.Ser333Ile Missense 7/10 -
9-130592006-A-C ENG c.320T>G p.Leu107Arg Missense 3/14 -
9-130605437-C-T ENG c.155G>A p.Gly52Asp Missense 2/14 -
12-52307468-C-T ACVRL1 c.439C>T p.Gln147* Nonsense 4/10 -
12-52308283-A-G ACVRL1 c.686A>G p.Lys229Arg Missense 6/10 -
9-130581009-G-A ENG c.1414C>T p.Gln472* Nonsense 11/14 -
12-52309975-G-A ACVRL1 c.1204G>A p.Gly402Ser Missense 8/10 -
9-130588077-A-G ENG c.586T>C p.Trp196Arg Missense 5/14 -
12-52309906-G-A ACVRL1 c.1135G>A p.Glu379Lys Missense 8/10 -
12-52314610-C-T ACVRL1 c.1445C>T p.Ala482Val Missense 10/10 -
12-52310003-G-A ACVRL1 c.1232G>A p.Arg411Gln Missense 8/10 -
12-52310003-G-C ACVRL1 c.1232G>C p.Arg411Pro Missense 8/10 -
12-52314625-A-C ACVRL1 c.1460A>C p.Lys487Thr Missense 10/10 -
12-52310002-C-T ACVRL1 c.1231C>T p.Arg411Trp Missense 8/10 -
9-130591961-C-T ENG c.360+5G>A - IntronicSNV - 3/13
12-52309283-G-GA ACVRL1 c.1047_1048insA - SpliceDonorInsertion 7/10 -
12-52309283-G-GC ACVRL1 c.1047_1048insC - SpliceDonorInsertion 7/10 -
12-52309283-G-GT ACVRL1 c.1047_1048insT - SpliceDonorInsertion 7/10 -
9-130586662-G-A ENG c.1055C>T p.Pro352Leu Missense 8/14 -
9-130616621-G-A ENG c.14C>T p.Thr5Met Missense 1/14 -
9-130605502-A-T ENG c.90T>A p.Cys30* Nonsense 2/14 -
9-130587153-GAGCATCCGGGCCTCCCCCAGGAGGCCTTGAGG-G ENG c.887_918del32 p.Pro296Glnfs*27 Frameshift 7/14 -
9-130591966-G-T ENG c.360C>A p.Tyr120* Nonsense 3/14 -
9-130582305-G-C ENG c.1146C>G p.Cys382Trp Missense 9/14 -
9-130586639-G-A ENG c.1078C>T p.Gln360* Nonsense 8/14 -
9-130591962-T-C ENG c.360+4A>G - IntronicSNV - 3/13
12-52309964-T-A ACVRL1 c.1193T>A p.Ile398Asn Missense 8/10 -
9-130582231-C-T ENG c.1220G>A p.Ser407Asn Missense 9/14 -
9-130592049-G-A ENG c.277C>T p.Arg93* Nonsense 3/14 -
9-130587972-A-G ENG c.689+2T>C - IntronicSNV - 5/13
9-130587624-C-CCCGT ENG c.701_702insACGG p.Thr235Argfs*100 Frameshift 6/14 -
12-52309989-G-C ACVRL1 c.1218G>C p.Trp406Cys Missense 8/10 -
12-52309094-C-A ACVRL1 c.858C>A p.Tyr286* Nonsense 7/10 -
9-130588789-C-G ENG c.523G>C p.Ala175Pro Missense 4/14 -
9-130582213-C-A ENG c.1238G>T p.Gly413Val Missense 9/14 -
9-130605447-C-A ENG c.145G>T p.Val49Phe Missense 2/14 -
12-52306973-G-A ACVRL1 c.152G>A p.Cys51Tyr Missense 3/10 -
12-52314615-C-T ACVRL1 c.1450C>T p.Arg484Trp Missense 10/10 -
9-130581901-C-G ENG c.1311G>C p.Arg437Arg Synonymous 10/14 -
9-130581901-C-T ENG c.1311G>A p.Arg437Arg Synonymous 10/14 -
12-52312792-C-A ACVRL1 c.1270C>A p.Pro424Thr Missense 9/10 -
12-52307058-G-GG ACVRL1 c.237dupG p.Arg80Alafs*89 Frameshift 3/10 -
12-52306964-G-A ACVRL1 c.143G>A p.Gly48Glu Missense 3/10 -
9-130586599-T-TA ENG c.1117_1118insT p.Lys373Ilefs*23 Frameshift 8/14 -
18-48604778-C-T SMAD4 c.1600C>T p.Gln534* Nonsense 12/12 -
12-52308264-G-C ACVRL1 c.667G>C p.Gly223Arg Missense 6/10 -
12-52309152-G-C ACVRL1 c.916G>C p.Ala306Pro Missense 7/10 -
9-130605368-C-T ENG c.219+5G>A - IntronicSNV - 2/13
9-130588791-TTGGCCCAGTCGGAGGAGGATGCTCTGGGGGTCATTCAGCTCAGCAGCAGAGGTGATGGG-T ENG c.361_523del163 - Unclassified 4/14 -
12-52309883-G-GG ACVRL1 c.1112_1112dup p.Thr372Hisfs*20 Frameshift 8/10 -
9-130588044-CAGCCCCGGACCAAGGCTGGAGTACGCGGC-C ENG c.594_622del29 p.Arg199Leufs*125 Frameshift 5/14 -
18-48604790-CG-C SMAD4 c.1612delG p.Glu538Lysfs*14 Frameshift 12/12 -
12-52309197-C-T ACVRL1 c.961C>T p.Gln321* Nonsense 7/10 -
12-52309960-G-A ACVRL1 c.1189G>A p.Asp397Asn Missense 8/10 -
9-130588001-A-G ENG c.662T>C p.Leu221Pro Missense 5/14 -
9-130587611-C-A ENG c.715G>T p.Glu239* Nonsense 6/14 -
9-130587536-C-T ENG c.790G>A p.Asp264Asn Missense 6/14 -
12-52309992-G-T ACVRL1 c.1221G>T p.Glu407Asp Missense 8/10 -
12-52306329-G-A ACVRL1 c.61+10G>A - IntronicSNV - 2/9
9-130588076-C-T ENG c.587G>A p.Trp196* Nonsense 5/14 -
9-130588938-A-T ENG c.374T>A p.Val125Asp Missense 4/14 -
12-52309161-G-A ACVRL1 c.925G>A p.Gly309Ser Missense 7/10 -
9-130605397-A-AA ENG c.195dupT p.Val66Cysfs*83 Frameshift 2/14 -
9-130586582-C-G ENG c.1134+1G>C - IntronicSNV - 8/13
9-130580563-G-A ENG c.1522C>T p.Gln508* Nonsense 12/14 -
9-130586582-C-T ENG c.1134+1G>A - IntronicSNV - 8/13
12-52309284-G-C ACVRL1 c.1048G>C p.Gly350Arg Missense 7/10 -
9-130616567-C-T ENG c.67+1G>A - IntronicSNV - 1/13
12-52309224-G-T ACVRL1 c.988G>T p.Asp330Tyr Missense 7/10 -
12-52309087-C-T ACVRL1 c.851C>T p.Ser284Phe Missense 7/10 -
9-130588102-G-GG ENG c.562dupC p.Gln188Profs*146 Frameshift 5/14 -
9-130586584-CGCAACAAGCTCTTTCTTTAGTAC-C ENG c.1112_1134del23 - SpliceDonorDeletion 8/14 -
9-130605471-C-A ENG c.121G>T p.Glu41* Nonsense 2/14 -
12-52314633-C-T ACVRL1 c.1468C>T p.Gln490* Nonsense 10/10 -
9-130580401-G-A ENG c.1684C>T p.Gln562* Nonsense 12/14 -
12-52312819-C-T ACVRL1 c.1297C>T p.Pro433Ser Missense 9/10 -
18-48604776-T-G SMAD4 c.1598T>G p.Leu533Arg Missense 12/12 -
12-52309891-GCGGTACATGGCACCCGAG-G ACVRL1 c.1120_1137del18 p.Arg374_glu379del InFrameDeletion 8/10 -
9-130592079-G-A ENG c.247C>T p.Gln83* Nonsense 3/14 -
9-130579445-A-G ENG c.1724T>C p.Ile575Thr Missense 13/14 -
12-52309825-G-C ACVRL1 c.1054G>C p.Ala352Pro Missense 8/10 -
9-130582217-A-T ENG c.1234T>A p.Cys412Ser Missense 9/14 -
9-130588091-C-T ENG c.572G>A p.Gly191Asp Missense 5/14 -
12-52312835-T-C ACVRL1 c.1313T>C p.Met438Thr Missense 9/10 -
12-52314640-T-A ACVRL1 c.1475T>A p.Ile492Asn Missense 10/10 -
9-130605437-C-A ENG c.155G>T p.Gly52Val Missense 2/14 -
12-52309054-T-C ACVRL1 c.818T>C p.Leu273Pro Missense 7/10 -
9-130580474-G-T ENG c.1611C>A p.Tyr537* Nonsense 12/14 -
9-130587138-A-C ENG c.932T>G p.Val311Gly Missense 7/14 -
9-130588818-G-A ENG c.494C>T p.Pro165Leu Missense 4/14 -
9-130587102-A-AA ENG c.968dupT p.Ser324Leufs*10 Frameshift 7/14 -
12-52309176-C-T ACVRL1 c.940C>T p.His314Tyr Missense 7/10 -
12-52308229-G-A ACVRL1 c.632G>A p.Gly211Asp Missense 6/10 -
9-130586667-A-T ENG c.1050T>A p.Cys350* Nonsense 8/14 -
9-130587141-AATGCTGGCATTGAGCATCCGG-A ENG c.909_929del21 p.Arg304_ile310del InFrameDeletion 7/14 -
9-130586594-C-A ENG c.1123G>T p.Glu375* Nonsense 8/14 -
9-130587977-G-GG ENG c.687dupC - SpliceDonorInsertion 5/14 -
9-130605433-G-T ENG c.159C>A p.Cys53* Nonsense 2/14 -
12-52307107-A-G ACVRL1 c.286A>G p.Asn96Asp Missense 3/10 -
12-52306971-G-T ACVRL1 c.150G>T p.Trp50Cys Missense 3/10 -
12-52306971-G-A ACVRL1 c.150G>A p.Trp50* Nonsense 3/10 -
12-52309063-T-C ACVRL1 c.827T>C p.Ile276Thr Missense 7/10 -
9-130586584-CGCAACAAGCTCTTTCTTTAGTACCAGGGTCATGGCGTCGTCGGCACACTTTGTCTGGAT-C ENG c.993_1134del142 - SpliceDonorDeletion 8/14 -
12-52307459-C-T ACVRL1 c.430C>T p.Arg144* Nonsense 4/10 -
12-52307052-C-G ACVRL1 c.231C>G p.Cys77Trp Missense 3/10 -
12-52307504-G-T ACVRL1 c.475G>T p.Glu159* Nonsense 4/10 -
12-52309160-C-A ACVRL1 c.924C>A p.Cys308* Nonsense 7/10 -
12-52312843-G-A ACVRL1 c.1321G>A p.Val441Met Missense 9/10 -
12-52314550-C-G ACVRL1 c.1385C>G p.Ser462* Nonsense 10/10 -
9-130587975-C-CT ENG c.687_688insA - SpliceDonorInsertion 5/14 -
9-130587538-A-G ENG c.788T>C p.Ile263Thr Missense 6/14 -
12-52309942-G-T ACVRL1 c.1171G>T p.Glu391* Nonsense 8/10 -
12-52307021-G-A ACVRL1 c.200G>A p.Arg67Gln Missense 3/10 -
12-52309149-T-C ACVRL1 c.913T>C p.Ser305Pro Missense 7/10 -
9-130587975-C-CA ENG c.687_688insT - SpliceDonorInsertion 5/14 -
12-52307452-G-A ACVRL1 c.423G>A p.Trp141* Nonsense 4/10 -
9-130605497-A-C ENG c.95T>G p.Leu32Arg Missense 2/14 -
12-52312793-C-T ACVRL1 c.1271C>T p.Pro424Leu Missense 9/10 -
12-52314601-G-T ACVRL1 c.1436G>T p.Arg479Leu Missense 10/10 -
9-130616575-GG-G ENG c.63delC p.Thr22Glnfs*21 Frameshift 1/14 -
12-52309100-T-TT ACVRL1 c.864dupT p.Leu289Serfs*103 Frameshift 7/10 -
12-52314614-G-GTGGA ACVRL1 c.1449_1450insTGGA p.Arg484Trpfs*11 Frameshift 10/10 -
9-130588814-C-CG ENG c.497_498insC p.Gln166Hisfs*168 Frameshift 4/14 -
18-48604772-GG-G SMAD4 c.1594delG p.Ala532Profs*5 Frameshift 12/12 -
9-130588075-C-T ENG c.588G>A p.Trp196* Nonsense 5/14 -
9-130587243-T-TT ENG c.828dupA p.Tyr277Ilefs*57 Frameshift 7/14 -
9-130581032-G-GG ENG c.1392dupC p.Asn465Glnfs*36 Frameshift 11/14 -
9-130616634-T-TT ENG c.1dupA - CdsStartInsertion 1/14 -
9-130605374-CGTTGGGAACTCCAGGAAGAGGACATGGACTTCAAGGATGGCATTGGGGGCCTGAGCCAC-C ENG c.70_219+2del152 - Unclassified 2/14 -
9-130586621-C-G ENG c.1096G>C p.Asp366His Missense 8/14 -
9-130616634-T-C ENG c.1A>G p.Met1Val Missense 1/14 -
9-130580407-G-A ENG c.1678C>T p.Gln560* Nonsense 12/14 -
9-130586595-TT-GC ENG c.1121_1122delAAinsGC p.Lys374Ser Missense 8/14 -
18-48584732-A-AT SMAD4 c.810_811insT p.Ser271*fs*1 Nonsense 7/12 -
9-130591966-CGTAGGCCAAGTGCAGTGGGATTCCCAGGGCCTGGAGATGCAGGAAGACACTGCTGTTTA-C ENG c.221_360+1del141 p.Gly74_tyr120del InFrameDeletion 3/14 -
9-130582308-C-CA ENG c.1142_1143insT p.Lys381Asnfs*15 Frameshift 9/14 -
12-52309904-C-T ACVRL1 c.1133C>T p.Pro378Leu Missense 8/10 -
12-52309970-C-A ACVRL1 c.1199C>A p.Ala400Asp Missense 8/10 -
18-48593406-G-A SMAD4 c.1157G>A p.Gly386Asp Missense 10/12 -
12-52307412-C-A ACVRL1 c.383C>A p.Ala128Asp Missense 4/10 -
9-130588069-GCGGCCGCCACTCGAGCGTGCG-G ENG c.576_596del21 p.Leu194_thr200del InFrameDeletion 5/14 -
9-130580575-C-T ENG c.1510G>A p.Val504Met Missense 12/14 -
9-130587553-T-TG ENG c.772_773insC p.Tyr258Serfs*76 Frameshift 6/14 -
9-130616633-A-G ENG c.2T>C p.Met1Thr Missense 1/14 -
9-130616633-A-C ENG c.2T>G p.Met1Arg Missense 1/14 -
12-52307857-G-GTG ACVRL1 c.625_625+1insTG - SpliceDonorInsertion - -
12-52309892-G-A ACVRL1 c.1121G>A p.Arg374Gln Missense 8/10 -
9-130581062-A-AA ENG c.1361dupT p.Tyr455Leufs*46 Frameshift 11/14 -
9-130581899-A-T ENG c.1311+2T>A - IntronicSNV - 10/13
9-130588865-C-G ENG c.447G>C p.Trp149Cys Missense 4/14 -
12-52309840-C-T ACVRL1 c.1069C>T p.Gln357* Nonsense 8/10 -
12-52309961-A-G ACVRL1 c.1190A>G p.Asp397Gly Missense 8/10 -
12-52306993-G-T ACVRL1 c.172G>T p.Glu58* Nonsense 3/10 -
12-52314573-G-T ACVRL1 c.1408G>T p.Glu470* Nonsense 10/10 -
9-130582285-GAAG-G ENG c.1166_1168delTCT p.Phe389delPhe InFrameDeletion 9/14 -
9-130586597-T-TT ENG c.1122dupA p.Glu375Argfs*21 Frameshift 8/14 -
9-130587975-CCGGCCGAGTGGCCCGGCAGGACCCTCAGGATGTGCGCCTCCTTGTGGCCGGCCACGCCT-C ENG c.524_689del166 - Unclassified 5/14 -
9-130588082-A-G ENG c.581T>C p.Leu194Pro Missense 5/14 -
9-130591965-C-T ENG c.360+1G>A - IntronicSNV - 3/13
9-130591965-C-G ENG c.360+1G>C - IntronicSNV - 3/13
9-130586607-C-CC ENG c.1111dupG p.Val371Glyfs*25 Frameshift 8/14 -
12-52309967-G-C ACVRL1 c.1196G>C p.Trp399Ser Missense 8/10 -
12-52310002-CGG-AAC ACVRL1 c.1231_1233delCGGinsAAC p.Arg411Asn Missense 8/10 -
9-130580462-T-TT ENG c.1623dupA p.Pro542Thrfs*25 Frameshift 12/14 -
9-130592097-G-A ENG c.229C>T p.Gln77* Nonsense 3/14 -
9-130588085-G-GGC ENG c.577_578insGC p.Thr193Serfs*30 Frameshift 5/14 -
9-130616612-A-G ENG c.23T>C p.Leu8Pro Missense 1/14 -
12-52309089-C-T ACVRL1 c.853C>T p.Leu285Phe Missense 7/10 -
12-52307381-C-T ACVRL1 c.352C>T p.Gln118* Nonsense 4/10 -
12-52309832-ATGCACTCA-A ACVRL1 c.1061_1068delTGCACTCA p.Met354Thrfs*35 Frameshift 8/10 -
12-52308240-G-A ACVRL1 c.643G>A p.Glu215Lys Missense 6/10 -
9-130580615-T-TT ENG c.1470dupA p.Asp491Argfs*10 Frameshift 12/14 -
12-52309910-T-G ACVRL1 c.1139T>G p.Val380Gly Missense 8/10 -
12-52312877-C-T ACVRL1 c.1355C>T p.Pro452Leu Missense 9/10 -