ClinVar Miner

List of variants in gene EXT2 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: 95
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HGVS dbSNP
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_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.1404+1G>A rs864309637
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.765C>G (p.Tyr255Ter) rs121918281
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_000401.3(EXT2):c.871C>T (p.Gln291Ter) rs267606786
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.1052C>T (p.Pro351Leu)
NM_207122.2(EXT2):c.1079+1G>C
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.1179del (p.Trp394fs)
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.314del (p.Lys105fs)
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.426C>G (p.Tyr142Ter)
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.782_783del (p.Leu261fs)
NM_207122.2(EXT2):c.783_784del (p.His262fs)
NM_207122.2(EXT2):c.817C>T (p.Gln273Ter)
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
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)

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