ClinVar Miner

List of variants in gene EXT2 reported as likely benign for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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HGVS dbSNP
NM_000401.3(EXT2):c.*101G>C rs117755165
NM_000401.3(EXT2):c.*129C>G rs141864253
NM_000401.3(EXT2):c.*139C>G rs191451519
NM_000401.3(EXT2):c.*56G>A rs77554103
NM_000401.3(EXT2):c.1064G>A (p.Arg355His) rs149727518
NM_000401.3(EXT2):c.107C>T (p.Ala36Val) rs201185639
NM_000401.3(EXT2):c.110C>T (p.Ser37Leu) rs527624522
NM_000401.3(EXT2):c.1116T>C (p.Cys372=) rs11828047
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1122G>A (p.Pro374=) rs757323768
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1277G>A (p.Arg426Gln) rs138187791
NM_000401.3(EXT2):c.1307T>C (p.Ile436Thr) rs530523884
NM_000401.3(EXT2):c.1633G>T (p.Val545Leu) rs147753803
NM_000401.3(EXT2):c.1687G>A (p.Glu563Lys) rs148711133
NM_000401.3(EXT2):c.1744C>T (p.Leu582=) rs142565472
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.1860G>A (p.Thr620=) rs16937864
NM_000401.3(EXT2):c.1905+11G>A rs372517964
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.2034+11C>G rs764143899
NM_000401.3(EXT2):c.223A>G (p.Met75Val) rs4755779
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000401.3(EXT2):c.843-10T>G rs200943294
NM_000401.3(EXT2):c.948C>T (p.Leu316=) rs749093709
NM_000401.3(EXT2):c.995G>A (p.Arg332His) rs76901081
NM_207122.2(EXT2):c.1003T>C (p.Leu335=)
NM_207122.2(EXT2):c.1167G>A (p.Gln389=)
NM_207122.2(EXT2):c.117C>T (p.Ala39=)
NM_207122.2(EXT2):c.1221C>T (p.Ala407=)
NM_207122.2(EXT2):c.1231C>T (p.Leu411=)
NM_207122.2(EXT2):c.1306-7C>G
NM_207122.2(EXT2):c.1407C>T (p.Leu469=) rs148753786
NM_207122.2(EXT2):c.1495+7dup
NM_207122.2(EXT2):c.1519G>A (p.Val507Ile)
NM_207122.2(EXT2):c.1527A>G (p.Leu509=) rs145649534
NM_207122.2(EXT2):c.1704T>A (p.Gly568=)
NM_207122.2(EXT2):c.1743G>A (p.Lys581=)
NM_207122.2(EXT2):c.1764T>C (p.Asn588=)
NM_207122.2(EXT2):c.182G>A (p.Arg61His)
NM_207122.2(EXT2):c.2013G>A (p.Val671=) rs371019537
NM_207122.2(EXT2):c.2052C>T (p.Phe684=) rs746317053
NM_207122.2(EXT2):c.2136C>T (p.Phe712=)
NM_207122.2(EXT2):c.246T>C (p.Asp82=)
NM_207122.2(EXT2):c.267G>A (p.Thr89=)
NM_207122.2(EXT2):c.306C>T (p.Asn102=)
NM_207122.2(EXT2):c.382C>T (p.Arg128Trp) rs200613371
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
NM_207122.2(EXT2):c.423C>T (p.Asp141=) rs199916419
NM_207122.2(EXT2):c.444C>T (p.Asn148=)
NM_207122.2(EXT2):c.687C>T (p.Ser229=)
NM_207122.2(EXT2):c.889C>T (p.Arg297Cys)
NM_207122.2(EXT2):c.936A>G (p.Leu312=)
NM_207122.2(EXT2):c.93C>T (p.Ser31=)

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