85938734 |
Exon 1 (5'UTR) |
Large deletion |
5’UTR-EX1del |
|
Pathogenic |
AVM |
Wooderchak-Donahue (2018) |
 |
86469478 |
Exon 1 (5'UTR) |
Large deletion |
5’UTR-EX1del |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86564163 |
Exon 1 (5'UTR) |
Regulatory |
c.-106_-105delinsTT |
|
Suspected benign |
|
Wooderchak-Donahue (2018) |
|
86564476 |
Exon 1 |
Missense |
c.208G>C |
p.Glu70Gln |
VUS |
Suspected HHT |
Wooderchak-Donahue (2018) |
 |
86564477 |
Exon 1 |
Missense |
c.209A>G |
p.Glu70Gly |
Benign |
|
Wooderchak-Donahue (2018) |
|
86564529 |
Exon 1 |
Deletion |
c.261_262del |
p.Gly89Argfs*22 |
Pathogenic |
Suspected HHT |
Wooderchak-Donahue (2018) |
 |
86564529 |
Exon 1 |
Deletion |
c.261del |
p.Gly89Glufs*7 |
Pathogenic |
CM, AVM |
Saliou (2017) |
 |
86564564 |
Exon 1 |
Missense |
c.296C>T |
p.Ala99Val |
Benign |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
|
86564614 |
Exon 1 |
Missense |
c.346C>G |
p.Leu116Val |
Pending classification |
|
Maruani (2017) |
 |
86564628 |
Exon 1 |
Silent |
c.360C>A |
p.Pro120Pro |
Suspected benign |
|
Wooderchak-Donahue (2018) |
|
86564633 |
Exon 1 |
Nonsense |
c.365C>A |
p.Ser122* |
Pathogenic |
CM |
Revencu (2013) |
|
86564651 |
Exon 1 |
Deletion |
c.383_384del |
p.Leu128Argfs*29 |
Pathogenic |
CM, AVM |
Saliou (2017) |
 |
86564677 |
Exon 1 |
Duplication |
c.409dup |
p.Leu137Profs*21 |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86564710 |
Exon 1 |
Indel |
c.442_443delinsT |
p.Ala148Trpfs*26 |
Pathogenic |
CM |
Revencu (2013) |
|
86564731 |
Exon 1 |
Nonsense |
c.463G>T |
p.Glu155* |
Pathogenic |
CM |
Revencu (2013) |
|
86564735 |
Exon 1 |
Missense |
c.467G>T |
p.Gly156Val |
VUS |
AVM |
Wooderchak-Donahue (2018) |
 |
86564743 |
Exon 1 |
Deletion |
c.475_476del |
p.Leu159fs |
Pathogenic |
CM, AVM, PKWS |
Eerola (2003) ARUP Laboratories |
 |
86564760 |
Exon 1 |
Nonsense |
c.492C>G |
p.Tyr164* |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86564780 |
Exon 1 |
Deletion |
c.512del |
p.Ile171fs |
Pathogenic |
CM, AVM |
Eerola (2003) |
 |
86564808 |
Intron 1 |
Splice Site |
c.539+1G>A |
|
Pathogenic |
CM |
Maruani (2017) |
 |
86627138 |
Intron 1 |
Intronic |
c.540-27G>A |
|
Benign |
|
Wooderchak-Donahue (2018) |
|
86627165 |
Exon 2-9 |
Large deletion |
EX2-9del |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86627181 |
Exon 2 |
Deletion |
c.556_562del |
p.Leu186Glufs*3 |
Pathogenic |
CM, AVF |
Saliou (2017) |
 |
86627236 |
Exon 2 |
Duplication |
c.611dup |
p.Tyr204* |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86627238 |
Exon 2 |
Deletion |
c.613_617del |
p.Leu205fs |
Pathogenic |
CM |
Revencu (2008) ARUP Laboratories |
 |
86627281 |
Exon 2 |
Nonsense |
c.656C>G |
p.Ser219* |
Pathogenic |
CM |
Revencu (2008) |
|
86628365 |
Exon 3 |
Indel |
c.734_737delinsAAA |
p.Arg245fs |
Pathogenic |
CM |
Wijn (2012) |
|
86628437 |
Exon 3 |
Deletion |
c.806_810del |
p.Leu269fs |
Pathogenic |
CM, PKWS |
Revencu (2008) |
 |
86628462 |
Intron 3 |
Splice Site |
c.828+3A>T |
|
Pathogenic |
CM, AVM/AVF |
Revencu (2008) ARUP Laboratories |
|
86628462 |
Intron 3 |
Splice Site |
c.828+3A>T |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86629072 |
Intron 3 |
Intronic |
c.829-12del |
|
Benign |
|
ARUP Laboratories |
|
86629075 |
Intron 3 |
Splice Site |
c.829-9G>A |
|
Pending classification |
CM |
Hershkovitz (2008) |
 |
86629083 |
Intron 3 |
Splice Site |
c.829-1G>A |
|
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86629108 |
Exon 4 |
Nonsense |
c.853C>T |
p.Arg285* |
Pathogenic |
CM |
Hershkovitz (2008) ARUP Laboratories |
 |
86629155 |
Intron 4 |
Splice Site |
c.899+1G>T |
|
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86633842 |
Exon 5 |
Duplication |
c.951dupG |
p.Met318fs |
Pathogenic |
CM |
Revencu (2008) |
|
86633848 |
Exon 5 |
Nonsense |
c.957G>A |
p.Trp319* |
Pathogenic |
CM, PKWS |
Revencu (2008) |
 |
86633909 |
Intron 5 |
Splice Site |
c.1017+1G>T |
|
Pathogenic |
CM, PKWS |
Revencu (2008) |
 |
86633973 |
Intron 5 |
Intronic |
c.1017+65G>A |
|
Benign |
|
ARUP Laboratories |
 |
86642502 |
Exon 7 |
Nonsense |
c.1063A>T |
p.Lys355* |
Pathogenic |
CM, AVM |
Lapinski (2018) |
|
86642543 |
Intron 7 |
Splice Site |
c.1102+2T>C |
|
Pathogenic |
CM, AVM |
Saliou (2017) |
 |
86642551 |
Intron 7 |
Intronic |
c.1102+10T>C |
|
Suspected benign |
|
Wooderchak-Donahue (2018) |
|
86645029 |
Intron 7 |
Splice Site |
c.1103-2A>G |
|
Pathogenic |
CM, T |
Wooderchak-Donahue (2018) |
 |
86645120 |
Exon 8 |
Nonsense |
c.1192C>T |
p.Arg398* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
 |
86645136 |
Exon 8 |
Duplication |
c.1208dupC |
p.Thr404fs |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
|
86645148 |
Exon 8 |
Deletion |
c.1220_1223del |
p.Asn407Serfs*3 |
Pathogenic |
CM |
Revencu (2013) Wooderchak-Donahue (2018) |
 |
86645176 |
Exon 8 |
Nonsense |
c.1248T>G |
p.Tyr416* |
Pathogenic |
CM |
Macmurdo (2016) |
 |
86648989 |
Exon 9 |
Insertion |
c.1268_1269dup |
p.Asp424* |
Pathogenic |
CM, AVM |
Lapinski (2018) |
 |
86648997 |
Exon 9 |
Missense |
c.1277A>G |
p.Tyr426Cys |
Pending classification |
CM |
Revencu (2008) |
 |
86648999 |
Exon 9 |
Nonsense |
c.1279C>T |
p.Arg427* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) ARUP Laboratories |
 |
86649010 |
Exon 9 |
Deletion |
c.1290_1291del |
p.Gln430Hisfs*3 |
Pathogenic |
CM, PKWS |
Revencu (2013) |
 |
86649030 |
Exon 9 |
Missense |
c.1310T>G |
p.Leu437Arg |
VUS |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
|
86649057 |
Intron 9 |
Splice Site |
c.1332+5G>A |
|
Pending classification |
CM |
Revencu (2008) |
|
86649058 |
Intron 9 |
Splice Site |
c.1332+6T>G |
|
VUS |
|
Wooderchak-Donahue (2018) |
 |
86658371 |
Exon 10 |
Nonsense |
c.1336C>T |
p.Gln446* |
Pathogenic |
CM, PKWS, AVM |
Eerola (2003) Revencu (2008) |
 |
86658377 |
Exon 10 |
Nonsense |
c.1342C>T |
p.Gln448* |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86658378 |
Exon 10 |
Indel |
c.1343_1346delinsCATG |
p.Gln448fs |
Pathogenic |
CM |
Hershkovitz (2008b) |
 |
86658385 |
Exon 10 |
Insertion |
c.1350_1351insT |
p.Asn451* |
Pathogenic |
CM, PKWS |
Revencu (2008) |
|
86658387 |
Exon 10 |
Missense |
c.1352A>G |
p.Asn451Ser |
Pending classification |
|
Maruani (2017) |
 |
86658397 |
Exon 10 |
Insertion |
c.1362_1363insTCAGT |
p.Asp455fs |
Pathogenic |
CM |
Revencu (2008) |
|
86658419 |
Exon 10 |
Deletion |
c.1384_1388del |
p.Thr462Profs*3 |
Pathogenic |
CM |
Revencu (2013) |
|
86658421 |
Exon 10 |
Insertion |
c.1386_1387insCT |
p.Ile463fs |
Pathogenic |
CM, AVM |
Thiex (2010) |
|
86658437 |
Exon 10 |
Deletion |
c.1402_1403del |
p.Lys468fs |
Pathogenic |
CM, AVM |
Wooderchak-Donahue (2012) ARUP Laboratories |
 |
86658475 |
Exon 10 |
Nonsense |
c.1440T>G |
p.Tyr480* |
Pathogenic |
CM |
Revencu (2013) |
|
86658489 |
Intron 10 |
Splice Site |
c.1453+1del |
|
Pathogenic |
CM, AVF |
Thiex (2010) |
|
86659158 |
Intron 10 |
Intronic |
c.1454-7delT |
|
Benign |
|
Wooderchak-Donahue (2018) |
|
86659166 |
Exon 11 |
Deletion |
c.1455del |
p.Gly487Glufs*11 |
Pathogenic |
CM, AVM |
Saliou (2017) |
 |
86659191 |
Exon 11 |
Duplication |
c.1480dup |
p.Tyr494fs |
Pathogenic |
CM, PKWS |
Revencu (2008) |
|
86659201 |
Exon 11 |
Nonsense |
c.1490T>G |
p.Leu497* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
|
86659204 |
Exon 11 |
Deletion |
c.1493_1494del |
p.Glu498fs |
Pathogenic |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
 |
86659205 |
Exon 11 |
Duplication |
c.1495_1496dup |
p.Ser500Valfs*21 |
Pathogenic |
CM |
Revencu (2013) |
 |
86659218 |
Exon 11 |
Nonsense |
c.1507C>T |
p.Gln503* |
Pathogenic |
CM, AVM |
Boyden (2012) |
|
86659220 |
Exon 11 |
Deletion |
c.1509del |
p.Gln503Hisfs*17 |
Pathogenic |
CM, AVM |
Saliou (2017) |
 |
86659224 |
Exon 11 |
Insertion |
c.1513_1514insAA |
p.Ile505Lysfs*16 |
Pathogenic |
CM, AVM |
Wooderchak-Donahue (2018) |
 |
86659228 |
Exon 11 |
Insertion |
c.1517_1518dup |
p.Phe507Ilefs*14 |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86659228 |
Exon 11 |
Deletion |
c.1517_1520del |
p.Tyr506Leufs*13 |
Pathogenic |
CM, PKWS |
Revencu (2013) |
 |
86659245 |
Exon 11 |
Nonsense |
c.1534C>T |
p.Arg512* |
Pathogenic |
CM, AVM |
Revencu (2013) Wooderchak-Donahue (2018) |
 |
86659278 |
Exon 11 |
Deletion |
c.1567_1568del |
p.Ser523Cysfs*9 |
Pathogenic |
AVF |
Saliou (2017) |
 |
86659283 |
Exon 11 |
Duplication |
c.1572_1575dup |
p.Ser526fs |
Pathogenic |
CM, PKWS |
Revencu (2008) |
 |
86659290 |
Exon 11 |
Deletion |
c.1579_1582delGTCT |
p.Val527fs |
Pathogenic |
CM, AVM |
Eerola (2003) ARUP Laboratories |
 |
86659294 |
Exon 11 |
Missense |
c.1583A>G |
p.Tyr528Cys |
Benign |
|
Wooderchak-Donahue (2018) |
 |
86659300 |
Exon 11 |
Missense |
c.1589T>A |
p.Val530Asp |
Pending classification |
CM, AVM |
Revencu (2013) |
 |
86659305 |
Exon 11 |
Duplication |
c.1594dup |
p.Asp532Glyfs*2 |
Pathogenic |
AVM |
Saliou (2017) |
 |
86659307 |
Exon 11 |
Deletion |
c.1596 1597del |
p.Asp532Glufs*17 |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86665625 |
Intron 11 |
Splice Site |
c.1611-7delT |
|
Benign |
|
ARUP Laboratories |
|
86665636 |
Exon 12 |
Duplication |
c.1616dup |
p.Asn539fs |
Pathogenic |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
 |
86665638 |
Exon 12 |
Missense |
c.1619G>A |
p.Cys540Tyr |
Pending classification |
CM, AVF |
Eerola (2003) |
 |
86665655 |
Exon 12 |
Nonsense |
c.1636C>T |
p.Gln546* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
|
86665668 |
Exon 12 |
Missense |
c.1649A>T |
p.Glu550Val |
VUS |
CM |
Wooderchak-Donahue (2018) |
|
86665685 |
Exon 12 |
Splice Site |
c.1666_1698+15del |
|
Pathogenic |
CM, AVM |
Thiex (2010) |
|
86665702 |
Exon 12 |
Duplication |
c.1682_1683dup |
p.Pro562fs |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
 |
86665718 |
Intron 12 |
Splice Site |
c.1698+1G>T |
|
Pathogenic |
CM |
Revencu (2013) |
|
86665719 |
Intron 12 |
Splice Site |
c.1698+2dup |
|
Pathogenic |
CM, AVM |
Wooderchak-Donahue (2018) Overcash (2015) |
 |
86665720 |
Intron 12 |
Splice Site |
c.1698+3_1698+4insT |
|
Pending classification |
CM, PKWS |
Revencu (2008) |
 |
86667939 |
Exon 13 |
Nonsense |
c.1703G>A |
p.Trp568* |
Pathogenic |
CM, AVM |
Lapinski (2018) |
|
86667953 |
Exon 13 |
Nonsense |
c.1717C>T |
p.Gln573* |
Pathogenic |
CM, AVM |
Thiex (2010) |
|
86667962 |
Exon 13 |
Duplication |
c.1726dup |
p.Cys576Leufs*7 |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86668007 |
Exon 13 |
Duplication |
c.1771dup |
p.Arg591fs |
Pathogenic |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
 |
86669867 |
Intron 13 |
Intronic |
c.1777-113G>A |
|
Benign |
|
Wooderchak-Donahue (2018) |
|
86670037 |
Exon 14 |
Missense |
c.1834A>G |
p.Thr612Ala |
VUS |
Suspected HHT |
Wooderchak-Donahue (2018) |
 |
86670073 |
Exon 14 |
Nonsense |
c.1870C>T |
p.Gln624* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) ARUP Laboratories |
|
86670080 |
Exon 14 |
Missense |
c.1877C>A |
p.Ala626Glu |
Pending classification |
CM |
Revencu (2013) |
|
86670706 |
Exon 15 |
Deletion |
c.1984_1988del |
p.Thr662Glufs*6 |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86670711 |
Exon 15 |
Deletion |
c.1989 1992del |
p.Lys664Alafs*13 |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86670734 |
Intron 15 |
Splice Site |
c.2011+1G>C |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86670789 |
Intron 15 |
Intronic |
c.2011+56A>G |
|
Benign |
|
Wooderchak-Donahue (2018) |
|
86672210 |
Exon 16-20 |
Large deletion |
EX16-20del |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86672224 |
Exon 16 |
Nonsense |
c.2026C>T |
p.Gln676* |
Pathogenic |
CM |
Revencu (2008) ARUP Laboratories |
|
86672233 |
Exon 16 |
Nonsense |
c.2035C>T |
p.Arg679* |
Pathogenic |
CM, AVM, PKWS |
Revencu (2013) Wooderchak-Donahue (2018) |
 |
86672264 |
Exon 16 |
Nonsense |
c.2066G>A |
p.Trp689* |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86672282 |
Exon 16 |
Missense |
c.2084A>T |
p.His695Leu |
VUS |
CM, AVM/AVF |
Wooderchak-Donahue (2012) ARUP Laboratories |
|
86672317 |
Exon 16 |
Missense |
c.2119C>T |
p.Arg707Cys |
Pending classification |
CM, AVM |
Kwong (2015) |
 |
86672323 |
Exon 16 |
Nonsense |
c.2125C>T |
p.Arg709* |
Pathogenic |
CM, AVM/AVF, PKWS |
Revencu (2008) |
 |
86672329 |
Exon 16 |
Nonsense |
c.2131C>T |
p.Arg711* |
Pathogenic |
CM, AVF |
Revencu (2013) Wooderchak-Donahue (2018) |
 |
86672353 |
Exon 16 |
Indel |
c.2155_2156delinsTA |
p.Pro719* |
Pathogenic |
|
Wooderchak-Donahue (2018) |
 |
86672383 |
Intron 16 |
Splice Site |
c.2184+1del |
|
Pathogenic |
CM, PKWS |
Revencu (2008) |
 |
86672696 |
Intron 16 |
Splice Site |
c.2185-2A>C |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86672697 |
Intron 16 |
Splice Site |
c.2185-1G>A |
|
Pathogenic |
CM |
Revencu (2008) |
|
86672722 |
Exon 17 |
Missense |
c.2209G>A |
p.Val737Ile |
VUS |
CM |
Wooderchak-Donahue (2018) |
 |
86672738 |
Exon 17 |
Nonsense |
c.2225C>A |
p.Ser742* |
Pathogenic |
CM, AVM |
Wooderchak-Donahue (2012) ARUP Laboratories |
 |
86672752 |
Exon 17 |
Nonsense |
c.2239C>T |
p.Gln747* |
Pathogenic |
CM, AVM |
Wooderchak-Donahue (2012) ARUP Laboratories |
|
86672758 |
Exon 17 |
Nonsense |
c.2245C>T |
p.Arg749* |
Pathogenic |
CM |
Revencu (2013) Wooderchak-Donahue (2018) |
 |
86672765 |
Exon 17 |
Duplication |
c.2252_2255dup |
p.Ala753fs |
Pathogenic |
CM |
Hershkovitz (2008) |
 |
86672782 |
Exon 17 |
Nonsense |
c.2269del |
p.Leu757* |
Pathogenic |
AVM/AVF, PKWS |
Wooderchak-Donahue (2018) |
 |
86672801 |
Exon 17 |
Missense |
c.2288A>T |
p.Glu763Val |
Pending classification |
CM, AVM/AVF |
Revencu (2008) |
 |
86672820 |
Exon 17 |
Silent |
c.2307G>A |
p.Leu769Leu |
Suspected benign |
|
Wooderchak-Donahue (2018) |
|
86672823 |
Exon 17 |
Duplication |
c.2310dup |
p.Cys771Metfs*5 |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86672842 |
Exon 17 |
Nonsense |
c.2329G>T |
p.Glu777* |
Pathogenic |
CM, AVF |
Thiex (2010) |
|
86672849 |
Exon 17 |
Deletion |
c.2336_2337del |
p.Ser779fs |
Pathogenic |
CM, AVM |
Eerola (2003) |
 |
86672854 |
Exon 17 |
Nonsense |
c.2341G>T |
p.Glu781* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
 |
86672858 |
Intron 17 |
Splice Site |
c.2344+1G>A |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86672858 |
Intron 17 |
Splice Site |
c.2344+1G>C |
|
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86674233 |
Exon 18 |
Nonsense |
c.2365C>T |
p.Arg789* |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) ARUP Laboratories |
 |
86674290 |
Exon 18 |
Nonsense |
c.2422C>T |
p.Gln808* |
Pathogenic |
CM, PKWS |
Revencu (2008) |
|
86674309 |
Exon 18 |
Nonsense |
c.2441del |
p.Leu814* |
Pathogenic |
CM, AVM |
Palmyre (2017) Saliou (2017) |
|
86674318 |
Exon 18 |
Deletion |
c.2450_2451del |
p.Ser817fs |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
|
86674319 |
Exon 18 |
Duplication |
c.2451dup |
p.Ile818Tyrfs*12 |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86674325 |
Exon 18 |
Indel |
c.2457_2460delinsT |
p.Leu819_Lys820delinsPhe |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86674335 |
Exon 18 |
Duplication |
c.2467dup |
p.Glu823Glyfs*7 |
Pathogenic |
CM |
Whitaker (2016) |
 |
86675450 |
Intron 18 |
Intronic |
c.2488-102G>A |
|
Benign |
|
ARUP Laboratories |
|
86675511 |
Intron 18 |
Intronic |
c.2488-41A>C |
|
Benign |
|
ARUP Laboratories |
|
86675550 |
Intron 18 |
Splice Site |
c.2488-2A>G |
|
Pathogenic |
CM |
Revencu (2008) |
|
86675551 |
Intron 18 |
Splice Site |
c.2488-1_2490del |
|
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
 |
86675564 |
Exon 19 |
Deletion |
c.2500_2501del |
p.Lys834Valfs*5 |
Pathogenic |
CM |
Revencu (2013) |
|
86675577 |
Exon 19 |
Duplication |
c.2513dup |
p.Asn838Lysfs*2 |
Pathogenic |
AVM |
Saliou (2017) |
 |
86675578 |
Exon 19 |
Insertion |
c.2514_2515insA |
p.Glu839fs |
Pathogenic |
CM |
Revencu (2008) |
|
86675596 |
Exon 19 |
Deletion |
c.2532_2536del |
p.Leu845fs |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
 |
86675643 |
Exon 19 |
Deletion |
c.2579_2582del |
p.Phe860fs |
Pathogenic |
CM, AVM/AVF |
Revencu (2008) |
 |
86675662 |
Exon 19 |
Duplication |
c.2598dup |
p.Pro867Serfs*18 |
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86675668 |
Intron 19 |
Splice Site |
c.2603+1G>A |
|
Pathogenic |
CM, AVM |
Revencu (2008) ARUP Laboratories |
 |
86675669 |
Intron 19 |
Splice Site |
c.2603+2dup |
|
Pathogenic |
CM |
Revencu (2008) ARUP Laboratories |
 |
86675671 |
Intron 19 |
Splice Site |
c.2603+4dup |
|
Pending classification |
CM |
Revencu (2008) |
 |
86675671 |
Intron 19 |
Splice Site |
c.2603+4del |
|
Pathogenic |
CM, AVM |
Wooderchak-Donahue (2018) |
 |
86675672 |
Intron 19 |
Splice Site |
c.2603+5G>T |
|
Pending classification |
CM, PKWS |
Revencu (2008) |
 |
86675672 |
Intron 19 |
Splice Site |
c.2603+5G>C |
|
Pathogenic |
CM |
Buhl (2012) |
|
86675852 |
Intron 19 |
Intronic |
c.2603+185T>C |
|
Benign |
|
Wooderchak-Donahue (2018) |
|
86676204 |
Intron 19 |
Intronic |
c.2604-122T>C |
|
Benign |
|
ARUP Laboratories |
|
86676324 |
Intron 19 |
Splice Site |
c.2604-2A>C |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
 |
86676325 |
Intron 19 |
Splice Site |
c.2604-1_2605del |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86676326 |
Exon 20 |
Splice Site |
c.2604G>T |
p.Pro868Pro |
Pathogenic |
CM, AVM/AVF |
Wooderchak-Donahue (2018) |
 |
86676330 |
Exon 20 |
Silent |
c.2608T>C |
p.Leu870Leu |
Benign |
|
Wooderchak-Donahue (2018) |
|
86676354 |
Exon 20 |
Nonsense |
c.2632C>T |
p.Gln878* |
Pathogenic |
CM, PKWS |
Revencu (2013) |
 |
86679516 |
Intron 20 |
Intronic |
c.2691-14del |
|
Benign |
|
ARUP Laboratories |
 |
86679519 |
Intron 20 |
Intronic |
c.2691-11C>T |
|
Suspected benign |
|
Wooderchak-Donahue (2018) |
|
86679530 |
Exon 21-25 |
Large deletion |
EX21-25del |
|
Pathogenic |
AVM |
Wooderchak-Donahue (2018) |
 |
86679537 |
Exon 21 |
Deletion |
c.2698_2701del |
p.Val900Phefs*10 |
Pathogenic |
CM, AVF |
Wooderchak-Donahue (2018) |
|
86679542 |
Exon 21 |
Deletion |
c.2703del |
p.Leu902Phefs*9 |
Pathogenic |
CM, AVM |
Saliou (2017) |
 |
86679546 |
Exon 21 |
Nonsense |
c.2707C>T |
p.Arg903* |
Pathogenic |
CM, AVM |
Revencu (2013) Wooderchak-Donahue (2018) |
|
86682617 |
Intron 22 |
Intronic |
c.2848-26T>C |
|
Benign |
|
Wooderchak-Donahue (2018) |
|
86682721 |
Intron 23 |
Splice Site |
c.2925+1G>T |
|
Pathogenic |
|
Wooderchak-Donahue (2018) |
 |
86682721 |
Intron 23 |
Splice Site |
c.2925+1del |
|
Pathogenic |
CM |
Wooderchak-Donahue (2018) |
|
86682725 |
Intron 23 |
Splice Site |
c.2925+5G>C |
|
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86685211 |
Exon 24 |
Deletion |
c.2927del |
p.Asn976Metfs*20 |
Pathogenic |
CM |
Durrington (2013) |
 |
86685261 |
Exon 24 |
Deletion |
c.2977del |
p.Arg993Valfs*3 |
Pathogenic |
CM, AVM, PKWS |
Revencu (2013) |
 |
86685308 |
Exon 24 |
Deletion |
c.3024del |
p.Glu1008Aspfs*16 |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86685312 |
Exon 24 |
Nonsense |
c.3028C>T |
p.Arg1010* |
Pathogenic |
CM, AVM |
Revencu (2008) Wooderchak-Donahue (2018) |
 |
86685322 |
Exon 24 |
Deletion |
c.3038_3054del |
p.Ser1013Thrfs*27 |
Pathogenic |
CM |
Revencu (2013) |
|
86685327 |
Exon 24 |
Nonsense |
c.3043G>T |
p.Glu1015* |
Pathogenic |
Suspected HHT |
Hernandez (2015) |
|
86685336 |
Exon 24 |
Deletion |
c.3052delG |
p.Ala1018fs |
Pathogenic |
CM |
Revencu (2008) |
|
86685339 |
Exon 24 |
Nonsense |
c.3055C>T |
p.Gln1019* |
Pathogenic |
CM |
Revencu (2013) |
|
86685345 |
Intron 24 |
Splice Site |
c.3060+1dup |
|
Pathogenic |
Suspected HHT |
Wooderchak-Donahue (2018) |
 |
86685365 |
Intron 24 |
Intronic |
c.3060+21A>G |
|
Benign |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
|
86686623 |
Exon 25 |
Silent |
c.3067T>C |
p.Leu1023Leu |
Pending classification |
|
Haga (2002) |
 |
86686665 |
Exon 25 |
Deletion |
c.3109_3112del |
p.Gln1037Thrfs*63 |
Pathogenic |
CM, AVM |
Revencu (2013) |
 |
86686797 |
3'UTR |
Regulatory |
c.*97A>G |
|
Benign |
CM |
Wooderchak-Donahue (2012) ARUP Laboratories |
 |