ClinVar Miner

List of variants in gene EXT2 reported as uncertain significance for connective tissue neoplasm

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NC_000011.10:g.44095641G>T
NM_000401.3(EXT2):c.*368C>T rs886048279
NM_000401.3(EXT2):c.*381T>C rs886048280
NM_000401.3(EXT2):c.*731A>G rs886048281
NM_000401.3(EXT2):c.*93G>A rs886048278
NM_000401.3(EXT2):c.*945G>A rs886048282
NM_000401.3(EXT2):c.1118T>A (p.Val373Asp) rs371996957
NM_000401.3(EXT2):c.1121C>T (p.Pro374Leu) rs141035971
NM_000401.3(EXT2):c.1186G>A (p.Val396Met) rs138943091
NM_000401.3(EXT2):c.1208T>C (p.Met403Thr) rs199711832
NM_000401.3(EXT2):c.130G>A (p.Gly44Ser) rs886048274
NM_000401.3(EXT2):c.1390G>A (p.Asp464Asn) rs886048276
NM_000401.3(EXT2):c.1492C>T (p.Arg498Ter) rs772690312
NM_000401.3(EXT2):c.1663C>T (p.Arg555Cys) rs145507609
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.2015C>T (p.Thr672Met) rs138722406
NM_000401.3(EXT2):c.304G>A (p.Val102Ile) rs200809171
NM_000401.3(EXT2):c.344A>C (p.Asp115Ala) rs534539796
NM_000401.3(EXT2):c.382C>T (p.Arg128Cys) rs376292686
NM_000401.3(EXT2):c.383G>A (p.Arg128His) rs143703574
NM_000401.3(EXT2):c.619A>C (p.Met207Leu) rs111589746
NM_000401.3(EXT2):c.652_657del (p.Asn218_His219del) rs761364688
NM_000401.3(EXT2):c.670A>G (p.Met224Val) rs1324170921
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) rs369437823
NM_000401.3(EXT2):c.755C>T (p.Thr252Met) rs202208526
NM_000401.3(EXT2):c.904C>T (p.Leu302=) rs773486418
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) rs886048275
NM_207122.1(EXT2):c.-307G>T rs569630494
NM_207122.2(EXT2):c.*1153A>T rs185285766
NM_207122.2(EXT2):c.*339C>T
NM_207122.2(EXT2):c.*440A>G
NM_207122.2(EXT2):c.*672G>C
NM_207122.2(EXT2):c.*838T>G
NM_207122.2(EXT2):c.*862T>G
NM_207122.2(EXT2):c.*882G>T
NM_207122.2(EXT2):c.-45G>T
NM_207122.2(EXT2):c.1117G>A (p.Val373Met)
NM_207122.2(EXT2):c.1151A>G (p.Gln384Arg)
NM_207122.2(EXT2):c.1165C>G (p.Gln389Glu)
NM_207122.2(EXT2):c.1177C>T (p.Arg393Trp)
NM_207122.2(EXT2):c.1192G>A (p.Ala398Thr)
NM_207122.2(EXT2):c.1200C>A (p.Phe400Leu)
NM_207122.2(EXT2):c.1226C>G (p.Ala409Gly)
NM_207122.2(EXT2):c.1259C>T (p.Pro420Leu)
NM_207122.2(EXT2):c.1277A>G (p.Tyr426Cys)
NM_207122.2(EXT2):c.1287G>T (p.Trp429Cys)
NM_207122.2(EXT2):c.1372G>A (p.Ala458Thr)
NM_207122.2(EXT2):c.1412G>A (p.Arg471Gln)
NM_207122.2(EXT2):c.1458T>A (p.Leu486=)
NM_207122.2(EXT2):c.1495G>A (p.Asp499Asn)
NM_207122.2(EXT2):c.1499C>G (p.Ser500Cys)
NM_207122.2(EXT2):c.151G>A (p.Glu51Lys)
NM_207122.2(EXT2):c.1575T>A (p.Pro525=)
NM_207122.2(EXT2):c.1601T>A (p.Val534Asp)
NM_207122.2(EXT2):c.1685G>A (p.Arg562Gln)
NM_207122.2(EXT2):c.1726G>A (p.Glu576Lys)
NM_207122.2(EXT2):c.1740G>C (p.Trp580Cys)
NM_207122.2(EXT2):c.1935G>A (p.Lys645=)
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter)
NM_207122.2(EXT2):c.198G>C (p.Val66=)
NM_207122.2(EXT2):c.2050T>C (p.Phe684Leu)
NM_207122.2(EXT2):c.2143A>G (p.Ile715Val)
NM_207122.2(EXT2):c.226C>A (p.Pro76Thr)
NM_207122.2(EXT2):c.238C>T (p.Arg80Trp)
NM_207122.2(EXT2):c.239G>A (p.Arg80Gln)
NM_207122.2(EXT2):c.261G>A (p.Met87Ile)
NM_207122.2(EXT2):c.308A>C (p.Lys103Thr)
NM_207122.2(EXT2):c.343G>A (p.Val115Met)
NM_207122.2(EXT2):c.37G>A (p.Ala13Thr)
NM_207122.2(EXT2):c.383G>A (p.Arg128Gln)
NM_207122.2(EXT2):c.473A>G (p.Asp158Gly)
NM_207122.2(EXT2):c.487A>T (p.Asn163Tyr)
NM_207122.2(EXT2):c.509C>T (p.Thr170Ile)
NM_207122.2(EXT2):c.50G>A (p.Arg17Lys)
NM_207122.2(EXT2):c.520A>T (p.Met174Leu)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
NM_207122.2(EXT2):c.561GTT[1] (p.Leu188del)
NM_207122.2(EXT2):c.599A>G (p.Asn200Ser)
NM_207122.2(EXT2):c.605C>T (p.Ala202Val)
NM_207122.2(EXT2):c.65A>G (p.His22Arg)
NM_207122.2(EXT2):c.728C>G (p.Pro243Arg)
NM_207122.2(EXT2):c.740C>G (p.Pro247Arg)
NM_207122.2(EXT2):c.748C>T (p.Arg250Trp)
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
NM_207122.2(EXT2):c.832G>A (p.Glu278Lys)
NM_207122.2(EXT2):c.886G>C (p.Val296Leu)
NM_207122.2(EXT2):c.890G>A (p.Arg297His)
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
NM_207122.2(EXT2):c.906G>C (p.Lys302Asn)
NM_207122.2(EXT2):c.919G>A (p.Asp307Asn)
NM_207122.2(EXT2):c.920A>G (p.Asp307Gly)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)
NM_207122.2(EXT2):c.973C>T (p.Arg325Trp)
NM_207122.2(EXT2):c.974G>A (p.Arg325Gln)

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