ClinVar Miner

List of variants reported as pathogenic for connective tissue neoplasm by Invitae

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 327
Download table as spreadsheet
HGVS dbSNP
NC_000001.11:g.(?_43349253)_(43349369_?)del
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
NC_000011.10:g.(?_44096233)_(44130158_?)del
NC_000011.10:g.(?_44096233)_(44244388_?)del
NC_000011.10:g.(?_44107663)_(44108268_?)del
NC_000011.10:g.(?_44107663)_(44109303_?)del
NC_000011.10:g.(?_44107663)_(44130158_?)del
NC_000011.10:g.(?_44124769)_(44126975_?)del
NC_000011.10:g.(?_44144227)_(44198038_?)del
NC_000011.10:g.(?_44171591)_(44171762_?)del
NC_000011.10:g.(?_44171591)_(44206979_?)del
NC_000011.10:g.(?_44206773)_(44206979_?)del
NC_000011.10:g.(?_44206793)_(44206959_?)del
NC_000011.9:g.(?_44146456_44156975del
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.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.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.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.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>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.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.1567del (p.Leu523fs)
NM_000127.3(EXT1):c.1617dup (p.Glu540Ter)
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.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.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)
NM_000401.3(EXT2):c.1005_1006dup (p.His336fs) rs886041199
NM_000401.3(EXT2):c.1027C>T (p.Gln343Ter) rs1555005398
NM_000401.3(EXT2):c.1036C>T (p.Gln346Ter) rs763718818
NM_000401.3(EXT2):c.1173G>A (p.Trp391Ter) rs1450980907
NM_000401.3(EXT2):c.1178+1G>A rs1369420640
NM_000401.3(EXT2):c.1231C>T (p.Gln411Ter) rs1555006433
NM_000401.3(EXT2):c.1272+2T>A rs1565205890
NM_000401.3(EXT2):c.1286G>A (p.Trp429Ter) rs750542485
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.166C>T (p.Arg56Ter) rs754533434
NM_000401.3(EXT2):c.1839G>A (p.Trp613Ter) rs1564986609
NM_000401.3(EXT2):c.343del (p.Asp115fs) rs1555002457
NM_000401.3(EXT2):c.344dup (p.Asp115fs) rs1555002460
NM_000401.3(EXT2):c.497_500dup (p.Met168fs) rs886041272
NM_000401.3(EXT2):c.528C>A (p.Tyr176Ter) rs1555002543
NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) rs121918279
NM_000401.3(EXT2):c.643C>T (p.Arg215Ter) rs886039358
NM_000401.3(EXT2):c.725+1G>A rs1057521132
NM_000401.3(EXT2):c.726-2A>G rs1064793854
NM_000401.3(EXT2):c.767G>C (p.Arg256Pro) rs764379119
NM_000401.3(EXT2):c.769C>T (p.Gln257Ter) rs1565199251
NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) rs121918280
NM_000401.3(EXT2):c.842+1G>A rs886039567
NM_000401.3(EXT2):c.843-2A>C rs864309638
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286
NM_004364.5(CEBPA):c.168C>A (p.Cys56Ter)
NM_004364.5(CEBPA):c.206del (p.Asp69fs)
NM_004364.5(CEBPA):c.324C>G (p.Tyr108Ter)
NM_005373.2(MPL):c.1069C>T (p.Arg357Ter) rs751975712
NM_005373.2(MPL):c.1194G>A (p.Trp398Ter) rs1570470199
NM_005373.2(MPL):c.127C>T (p.Arg43Ter) rs148434485
NM_005373.2(MPL):c.1422G>A (p.Trp474Ter) rs754859909
NM_005373.2(MPL):c.1462G>T (p.Glu488Ter) rs1302209849
NM_005373.2(MPL):c.235_236del (p.Leu79fs) rs587778514
NM_005373.2(MPL):c.304C>T (p.Arg102Cys) rs763568293
NM_005373.2(MPL):c.305G>C (p.Arg102Pro) rs28928907
NM_005373.2(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_005373.2(MPL):c.378del (p.Phe126fs) rs587778515
NM_005373.2(MPL):c.391+5G>C rs752453717
NM_005373.2(MPL):c.413del (p.Ile138fs) rs1343123940
NM_005373.2(MPL):c.769C>T (p.Arg257Cys) rs121913611
NM_005373.3(MPL):c.1025del (p.Pro342fs)
NM_005373.3(MPL):c.1042C>T (p.Gln348Ter)
NM_005373.3(MPL):c.1247G>A (p.Trp416Ter)
NM_005373.3(MPL):c.1263_1264del (p.Cys422fs)
NM_005373.3(MPL):c.1270C>T (p.Gln424Ter)
NM_005373.3(MPL):c.1276C>T (p.Arg426Ter)
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
NM_005373.3(MPL):c.1348G>T (p.Glu450Ter)
NM_005373.3(MPL):c.1474_1477dup (p.Ser493fs)
NM_005373.3(MPL):c.1563C>A (p.Tyr521Ter)
NM_005373.3(MPL):c.214G>T (p.Glu72Ter)
NM_005373.3(MPL):c.230del (p.Cys77fs)
NM_005373.3(MPL):c.252del (p.Met84fs)
NM_005373.3(MPL):c.268C>T (p.Arg90Ter)
NM_005373.3(MPL):c.273C>A (p.Tyr91Ter)
NM_005373.3(MPL):c.308del (p.Leu103fs)
NM_005373.3(MPL):c.455del (p.Ile152fs)
NM_005373.3(MPL):c.603_606del (p.His201fs)
NM_005373.3(MPL):c.793del (p.Leu265fs)
NM_207122.1(EXT2):c.861_1173+5287del
NM_207122.2(EXT2):c.1006C>T (p.Gln336Ter)
NM_207122.2(EXT2):c.1016G>A (p.Cys339Tyr)
NM_207122.2(EXT2):c.1024del (p.Val342fs)
NM_207122.2(EXT2):c.1032del (p.Ile344fs) rs1590570953
NM_207122.2(EXT2):c.1079+1G>T
NM_207122.2(EXT2):c.1124_1125del (p.Ser375fs)
NM_207122.2(EXT2):c.1144C>T (p.Gln382Ter)
NM_207122.2(EXT2):c.1150C>T (p.Gln384Ter)
NM_207122.2(EXT2):c.1169_1170del (p.Arg390fs)
NM_207122.2(EXT2):c.1181G>A (p.Trp394Ter)
NM_207122.2(EXT2):c.1189dup (p.Glu397fs) rs1590618771
NM_207122.2(EXT2):c.1195del (p.Tyr399fs)
NM_207122.2(EXT2):c.1205C>A (p.Ser402Ter)
NM_207122.2(EXT2):c.1234C>T (p.Gln412Ter)
NM_207122.2(EXT2):c.1257T>A (p.Tyr419Ter)
NM_207122.2(EXT2):c.1262_1263dup (p.Ala422fs) rs1590618958
NM_207122.2(EXT2):c.1287G>A (p.Trp429Ter)
NM_207122.2(EXT2):c.129_130delinsGT (p.Phe43_Gln44delinsLeuTer)
NM_207122.2(EXT2):c.1577dup (p.Tyr526Ter)
NM_207122.2(EXT2):c.1627dup (p.Met543fs) rs1590647371
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
NM_207122.2(EXT2):c.203_258del (p.Val68fs)
NM_207122.2(EXT2):c.211del (p.Leu71fs)
NM_207122.2(EXT2):c.257_263del (p.Arg86fs)
NM_207122.2(EXT2):c.282T>A (p.Tyr94Ter)
NM_207122.2(EXT2):c.321T>A (p.Tyr107Ter)
NM_207122.2(EXT2):c.362_363del (p.Ser121fs) rs1565196489
NM_207122.2(EXT2):c.394G>T (p.Glu132Ter)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.459_462del (p.Val154fs)
NM_207122.2(EXT2):c.482del (p.Asn161fs)
NM_207122.2(EXT2):c.536+1G>C
NM_207122.2(EXT2):c.590del (p.Pro197fs) rs1565197245
NM_207122.2(EXT2):c.602_603del (p.Thr201fs)
NM_207122.2(EXT2):c.626+2T>G
NM_207122.2(EXT2):c.626+2_626+5del
NM_207122.2(EXT2):c.64_68del (p.His22fs)
NM_207122.2(EXT2):c.699T>G (p.Tyr233Ter)
NM_207122.2(EXT2):c.743+1_743+2dup rs1590555709
NM_207122.2(EXT2):c.744-1G>A
NM_207122.2(EXT2):c.756C>A (p.Tyr252Ter)
NM_207122.2(EXT2):c.783_784del (p.His262fs)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
NM_207122.2(EXT2):c.913del (p.Val305fs)
NM_207122.2(EXT2):c.940-2A>G
NM_207122.2(EXT2):c.952_964del (p.Cys318fs)
NM_207122.2(EXT2):c.956_957del (p.Val319fs) rs1590570665
NM_207122.2(EXT2):c.960del (p.Leu321fs)

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.