ClinVar Miner

List of variants in gene EXT1 reported as pathogenic for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 222
Download table as spreadsheet
HGVS dbSNP
EXT1, 1-BP DEL, 1364C
EXT1, 1-BP DEL, 2120T
EXT1, 1-BP INS, 2077C
EXT1, 4-BP INS, NT1035
GRCh37/hg19 8q24.11(chr8:118825108-119054752)x3
NC_000008.10:g.(?_118596815_118825146del
NC_000008.10:g.(?_118788188_118817001del
NC_000008.10:g.(?_118811951)_(118834836_?)del
NC_000008.10:g.(?_118819436)_(118847810_?)del
NC_000008.10:g.(?_118825208_119035925del
NC_000008.10:g.(?_118842449)_(118842608_?)del
NC_000008.10:g.(?_119120510_119123163del
NC_000008.11:g.(?_117799692)_(117799917_?)del
NC_000008.11:g.(?_117799692)_(117837221_?)del
NC_000008.11:g.(?_117799692)_(118111066_?)del
NC_000008.11:g.(?_117807197)_(117807397_?)del
NC_000008.11:g.(?_117812852)_(117837221_?)dup
NC_000008.11:g.(?_117830210)_(117837221_?)del
NC_000008.11:g.(?_118110065)_(118111066_?)del
NC_000008.11:g.117818435dup
NC_000008.11:g.117819794del
NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.2(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.2(EXT1):c.1036A>G (p.Arg346Gly) rs1554580147
NM_000127.2(EXT1):c.103del (p.Ser35fs) rs1563659821
NM_000127.2(EXT1):c.1053_1056+1del rs1563575654
NM_000127.2(EXT1):c.1056+1G>A rs886039354
NM_000127.2(EXT1):c.1056+2T>A rs1554580142
NM_000127.2(EXT1):c.1056+3A>C rs1554580140
NM_000127.2(EXT1):c.1057-1G>C rs1587003661
NM_000127.2(EXT1):c.1057-2A>G rs1587003662
NM_000127.2(EXT1):c.1065C>A (p.Cys355Ter) rs11546829
NM_000127.2(EXT1):c.1236G>A (p.Trp412Ter) rs1587001428
NM_000127.2(EXT1):c.1316C>G (p.Ser439Ter) rs1563571318
NM_000127.2(EXT1):c.1401del (p.Tyr468fs) rs1554579004
NM_000127.2(EXT1):c.1417+1G>A rs1586997796
NM_000127.2(EXT1):c.1417+2T>A rs1554578992
NM_000127.2(EXT1):c.1418-2A>G rs1554578802
NM_000127.2(EXT1):c.1431dup (p.Ser478fs) rs1554578798
NM_000127.2(EXT1):c.1468del (p.Leu490fs) rs886039355
NM_000127.2(EXT1):c.1468dup (p.Leu490fs) rs886039355
NM_000127.2(EXT1):c.1469del (p.Leu490fs) rs886039356
NM_000127.2(EXT1):c.1537-2A>G rs1554578710
NM_000127.2(EXT1):c.1576A>T (p.Lys526Ter) rs1563569983
NM_000127.2(EXT1):c.1633-2A>G rs1233701691
NM_000127.2(EXT1):c.1633-34_1670del rs1554657940
NM_000127.2(EXT1):c.165G>A (p.Trp55Ter) rs1586280132
NM_000127.2(EXT1):c.1664dup (p.Asn555fs) rs1586993159
NM_000127.2(EXT1):c.1685_1701dup (p.Thr568fs) rs1554657927
NM_000127.2(EXT1):c.1745G>A (p.Trp582Ter) rs1586990402
NM_000127.2(EXT1):c.1810G>T (p.Glu604Ter) rs1554657437
NM_000127.2(EXT1):c.1817G>A (p.Trp606Ter) rs1586990317
NM_000127.2(EXT1):c.1878C>G (p.Tyr626Ter) rs886039357
NM_000127.2(EXT1):c.1884-1G>A rs1131691623
NM_000127.2(EXT1):c.1911C>A (p.Tyr637Ter) rs1586989220
NM_000127.2(EXT1):c.2000T>A (p.Leu667Ter) rs1131692020
NM_000127.2(EXT1):c.2004del (p.Pro669fs) rs1563872934
NM_000127.2(EXT1):c.2059del (p.Ser687fs) rs1554656288
NM_000127.2(EXT1):c.2101C>T (p.Arg701Ter) rs1363815113
NM_000127.2(EXT1):c.2104C>T (p.Gln702Ter) rs1554656266
NM_000127.2(EXT1):c.2132G>A (p.Trp711Ter) rs786205593
NM_000127.2(EXT1):c.218del (p.Asn73fs) rs1554601568
NM_000127.2(EXT1):c.247dup (p.Arg83fs) rs1554601559
NM_000127.2(EXT1):c.276_277dup (p.Tyr93fs) rs1586279952
NM_000127.2(EXT1):c.279C>G (p.Tyr93Ter) rs1227875610
NM_000127.2(EXT1):c.282dup (p.Gly95fs) rs1563659649
NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.2(EXT1):c.364C>T (p.Gln122Ter) rs1586279835
NM_000127.2(EXT1):c.369_370delinsT (p.Lys123fs) rs1563659571
NM_000127.2(EXT1):c.456C>A (p.Cys152Ter) rs1554601534
NM_000127.2(EXT1):c.521del (p.Asn173_Leu174insTer) rs1554601526
NM_000127.2(EXT1):c.528_535del (p.Lys177fs) rs587776540
NM_000127.2(EXT1):c.533_534dup (p.Gln179fs) rs1554601525
NM_000127.2(EXT1):c.584T>G (p.Leu195Ter) rs1586279621
NM_000127.2(EXT1):c.598_669del (p.Trp200_Thr223del) rs1554601502
NM_000127.2(EXT1):c.642_663del (p.Met215fs) rs1586279544
NM_000127.2(EXT1):c.642_675del (p.Met215fs) rs1586279535
NM_000127.2(EXT1):c.644_647dup (p.Lys218fs) rs1554601507
NM_000127.2(EXT1):c.651_663del (p.Lys218fs) rs1554601504
NM_000127.2(EXT1):c.798del (p.Phe266fs) rs1563659352
NM_000127.2(EXT1):c.838A>G (p.Arg280Gly) rs1554601483
NM_000127.2(EXT1):c.840G>C (p.Arg280Ser) rs1563659325
NM_000127.2(EXT1):c.846del (p.Leu283fs) rs1554601481
NM_000127.2(EXT1):c.852T>A (p.Tyr284Ter) rs1057520608
NM_000127.2(EXT1):c.854dup (p.His285fs) rs1554601476
NM_000127.2(EXT1):c.913C>T (p.Gln305Ter) rs1554601474
NM_000127.2(EXT1):c.957T>A (p.Tyr319Ter) rs1586279297
NM_000127.2(EXT1):c.962+1G>A rs886039353
NM_000127.2(EXT1):c.962+1G>C rs886039353
NM_000127.2(EXT1):c.962+1G>T rs886039353
NM_000127.2(EXT1):c.962+3_962+6del rs1586279285
NM_000127.2(EXT1):c.963-2A>G rs1554580162
NM_000127.2(EXT1):c.988_989insTC (p.Asn330fs) rs1563575697
NM_000127.3(EXT1):c.1010C>G (p.Pro337Arg)
NM_000127.3(EXT1):c.1018C>T rs119103290
NM_000127.3(EXT1):c.1027G>A (p.Gly343Arg)
NM_000127.3(EXT1):c.1056G>T (p.Gln352His)
NM_000127.3(EXT1):c.1064G>A (p.Cys355Tyr)
NM_000127.3(EXT1):c.1108G>T (p.Glu370Ter)
NM_000127.3(EXT1):c.111del (p.Glu38fs) rs1586280235
NM_000127.3(EXT1):c.1126C>T (p.Gln376Ter)
NM_000127.3(EXT1):c.1126del (p.Gln376fs)
NM_000127.3(EXT1):c.1151_1152del (p.Arg384fs)
NM_000127.3(EXT1):c.1157T>G (p.Leu386Ter)
NM_000127.3(EXT1):c.115G>T (p.Glu39Ter)
NM_000127.3(EXT1):c.115del (p.Glu39fs) rs1586280217
NM_000127.3(EXT1):c.1167del (p.Pro390fs)
NM_000127.3(EXT1):c.1192C>T (p.Gln398Ter)
NM_000127.3(EXT1):c.1215_1218del (p.Arg405fs) rs1369118661
NM_000127.3(EXT1):c.1219C>T (p.Gln407Ter)
NM_000127.3(EXT1):c.1220del (p.Gln407fs)
NM_000127.3(EXT1):c.1234del (p.Trp412fs)
NM_000127.3(EXT1):c.1235_1236delinsC (p.Trp412fs)
NM_000127.3(EXT1):c.124_962+1815del
NM_000127.3(EXT1):c.1285-1G>C
NM_000127.3(EXT1):c.1285-1G>T
NM_000127.3(EXT1):c.1291C>T (p.Gln431Ter)
NM_000127.3(EXT1):c.129del (p.Asn44fs)
NM_000127.3(EXT1):c.1316C>A (p.Ser439Ter)
NM_000127.3(EXT1):c.1320dup (p.Asn441Ter)
NM_000127.3(EXT1):c.1335G>A (p.Trp445Ter)
NM_000127.3(EXT1):c.1350del (p.Gly451fs)
NM_000127.3(EXT1):c.1400dup (p.Tyr467Ter)
NM_000127.3(EXT1):c.1401C>G (p.Tyr467Ter)
NM_000127.3(EXT1):c.1404C>G (p.Tyr468Ter)
NM_000127.3(EXT1):c.1405del (p.Tyr469fs)
NM_000127.3(EXT1):c.1417+1G>T
NM_000127.3(EXT1):c.1421T>A (p.Leu474Ter)
NM_000127.3(EXT1):c.1431del (p.Ser478fs)
NM_000127.3(EXT1):c.1434_1440dup (p.Thr481fs)
NM_000127.3(EXT1):c.1477C>T (p.Gln493Ter)
NM_000127.3(EXT1):c.1522del (p.Gln508fs)
NM_000127.3(EXT1):c.1534C>T (p.Gln512Ter)
NM_000127.3(EXT1):c.1551G>A (p.Trp517Ter)
NM_000127.3(EXT1):c.1567del (p.Leu523fs)
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
NM_000127.3(EXT1):c.1633-1G>A
NM_000127.3(EXT1):c.1633-1G>T
NM_000127.3(EXT1):c.1656del (p.Tyr553fs)
NM_000127.3(EXT1):c.1659del (p.Pro552_Tyr553insTer)
NM_000127.3(EXT1):c.1677_1678insTGTCATCACAGAC (p.Ala560fs)
NM_000127.3(EXT1):c.1677_1681del (p.Val561fs)
NM_000127.3(EXT1):c.1678_1679dup (p.Val561fs)
NM_000127.3(EXT1):c.1696G>T (p.Glu566Ter)
NM_000127.3(EXT1):c.1718_1719del (p.Thr573fs)
NM_000127.3(EXT1):c.1722+1G>T
NM_000127.3(EXT1):c.1722+2T>G
NM_000127.3(EXT1):c.1723-2A>C
NM_000127.3(EXT1):c.1723-2A>T
NM_000127.3(EXT1):c.1746G>A (p.Trp582Ter) rs1586990398
NM_000127.3(EXT1):c.176del (p.Pro59fs)
NM_000127.3(EXT1):c.1770_1774del (p.Gly591fs)
NM_000127.3(EXT1):c.1773del (p.Tyr592fs) rs1586990361
NM_000127.3(EXT1):c.1776C>A (p.Tyr592Ter)
NM_000127.3(EXT1):c.1796G>A (p.Trp599Ter)
NM_000127.3(EXT1):c.1797G>A (p.Trp599Ter)
NM_000127.3(EXT1):c.1806dup (p.Lys603Ter)
NM_000127.3(EXT1):c.1818G>A (p.Trp606Ter)
NM_000127.3(EXT1):c.1819G>T (p.Gly607Ter)
NM_000127.3(EXT1):c.1845del (p.Tyr616fs)
NM_000127.3(EXT1):c.1848C>G (p.Tyr616Ter)
NM_000127.3(EXT1):c.1882A>T (p.Lys628Ter)
NM_000127.3(EXT1):c.1883+1G>A
NM_000127.3(EXT1):c.1883+1G>T
NM_000127.3(EXT1):c.1883+2T>C
NM_000127.3(EXT1):c.1885dup (p.Tyr629fs)
NM_000127.3(EXT1):c.1906del (p.His636fs)
NM_000127.3(EXT1):c.1925del (p.Leu642fs)
NM_000127.3(EXT1):c.1944del (p.Gln648fs) rs1586989202
NM_000127.3(EXT1):c.1952_1959del (p.Asn651fs) rs1586989189
NM_000127.3(EXT1):c.1965del (p.Leu656fs)
NM_000127.3(EXT1):c.1971del (p.Met657fs)
NM_000127.3(EXT1):c.1998dup (p.Leu667fs)
NM_000127.3(EXT1):c.2026A>T (p.Lys676Ter)
NM_000127.3(EXT1):c.2029C>T (p.Gln677Ter)
NM_000127.3(EXT1):c.203G>A (p.Trp68Ter)
NM_000127.3(EXT1):c.2044_2047del (p.Met682fs)
NM_000127.3(EXT1):c.2053C>T (p.Gln685Ter)
NM_000127.3(EXT1):c.2077del (p.Ala693fs)
NM_000127.3(EXT1):c.208C>T (p.Gln70Ter)
NM_000127.3(EXT1):c.2115del (p.Met705fs)
NM_000127.3(EXT1):c.2119dup (p.Thr707fs)
NM_000127.3(EXT1):c.247del (p.Arg83fs)
NM_000127.3(EXT1):c.266dup (p.Asn89fs)
NM_000127.3(EXT1):c.286A>T (p.Lys96Ter)
NM_000127.3(EXT1):c.287_290dup (p.Cys98fs)
NM_000127.3(EXT1):c.287del (p.Lys96fs)
NM_000127.3(EXT1):c.330_331insTCTACGT (p.Lys111delinsSerThrTer)
NM_000127.3(EXT1):c.351C>G (p.Tyr117Ter)
NM_000127.3(EXT1):c.360dup (p.Gln121fs)
NM_000127.3(EXT1):c.393C>A (p.Tyr131Ter)
NM_000127.3(EXT1):c.402del (p.Ile134_Leu135insTer)
NM_000127.3(EXT1):c.46del (p.Cys16fs)
NM_000127.3(EXT1):c.487_488insAA (p.Arg163fs)
NM_000127.3(EXT1):c.487dup (p.Arg163fs)
NM_000127.3(EXT1):c.490_491del (p.Asp164fs)
NM_000127.3(EXT1):c.4C>T (p.Gln2Ter)
NM_000127.3(EXT1):c.516_517insTA (p.Asn173Ter)
NM_000127.3(EXT1):c.538_539del (p.Leu181fs) rs886039486
NM_000127.3(EXT1):c.540_962+399del
NM_000127.3(EXT1):c.542_543del (p.Leu181fs) rs1563659474
NM_000127.3(EXT1):c.557_558del (p.Asn186fs)
NM_000127.3(EXT1):c.60_64del (p.Tyr22fs)
NM_000127.3(EXT1):c.649_662del (p.Ala217fs)
NM_000127.3(EXT1):c.651_664delinsTTT (p.Lys218fs)
NM_000127.3(EXT1):c.66T>G (p.Tyr22Ter)
NM_000127.3(EXT1):c.674del (p.Asn225fs)
NM_000127.3(EXT1):c.679C>T (p.Arg227Ter)
NM_000127.3(EXT1):c.686dup (p.Asn229fs)
NM_000127.3(EXT1):c.698del (p.Ser233fs)
NM_000127.3(EXT1):c.711_712del (p.Phe237_Ser238insTer)
NM_000127.3(EXT1):c.747dup (p.Phe250fs)
NM_000127.3(EXT1):c.752del (p.Phe250_Leu251insTer)
NM_000127.3(EXT1):c.772_773dup (p.Arg260fs)
NM_000127.3(EXT1):c.79C>T (p.Gln27Ter)
NM_000127.3(EXT1):c.802G>A (p.Gly268Arg)
NM_000127.3(EXT1):c.818_823delinsAAGGC (p.Thr273fs)
NM_000127.3(EXT1):c.822del (p.Gly274_Ile275insTer)
NM_000127.3(EXT1):c.868G>T (p.Glu290Ter)
NM_000127.3(EXT1):c.912G>A (p.Trp304Ter)
NM_000127.3(EXT1):c.961A>T (p.Lys321Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.