ClinVar Miner

List of variants in gene EXT1 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_000008.10:g.(?_118819446)_(119123285_?)dup
NC_000008.11:g.(?_118110065)_(118111066_?)dup
NM_000127.2(EXT1):c.*146G>C rs886062634
NM_000127.2(EXT1):c.*151T>C rs751063786
NM_000127.2(EXT1):c.*82C>G rs886062635
NM_000127.2(EXT1):c.-113G>C rs533303304
NM_000127.2(EXT1):c.-129A>G rs886062637
NM_000127.2(EXT1):c.-139A>G rs886062638
NM_000127.2(EXT1):c.-358T>C rs886062639
NM_000127.2(EXT1):c.-536G>A rs780662536
NM_000127.2(EXT1):c.-57G>C rs886062636
NM_000127.2(EXT1):c.-612G>A rs886062640
NM_000127.2(EXT1):c.-655C>A rs886062642
NM_000127.2(EXT1):c.-667C>G rs886062643
NM_000127.2(EXT1):c.-678C>T rs886062644
NM_000127.2(EXT1):c.-731G>A rs886062645
NM_000127.2(EXT1):c.1000T>C (p.Cys334Arg) rs1587004341
NM_000127.2(EXT1):c.1021A>T (p.Arg341Trp) rs1554580149
NM_000127.2(EXT1):c.1135G>A (p.Val379Ile) rs371233961
NM_000127.2(EXT1):c.122G>A (p.Ser41Asn) rs199862937
NM_000127.2(EXT1):c.1239G>T (p.Glu413Asp) rs756701753
NM_000127.2(EXT1):c.1279C>G (p.Leu427Val) rs773539946
NM_000127.2(EXT1):c.1319G>A (p.Arg440His) rs144550328
NM_000127.2(EXT1):c.1360G>A (p.Val454Ile) rs201504622
NM_000127.2(EXT1):c.1457C>T (p.Ala486Val) rs188859975
NM_000127.2(EXT1):c.1463C>A (p.Thr488Asn) rs759514310
NM_000127.2(EXT1):c.210A>G (p.Gln70=) rs367543871
NM_000127.2(EXT1):c.214G>A (p.Glu72Lys) rs150818931
NM_000127.2(EXT1):c.839G>C (p.Arg280Thr) rs1586279403
NM_000127.2(EXT1):c.874G>T (p.Val292Phe) rs1586279359
NM_000127.3(EXT1):c.*182A>C
NM_000127.3(EXT1):c.-16G>A
NM_000127.3(EXT1):c.-717G>C
NM_000127.3(EXT1):c.1165-3C>G
NM_000127.3(EXT1):c.1165-6T>G
NM_000127.3(EXT1):c.1214G>C (p.Arg405Thr)
NM_000127.3(EXT1):c.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1280T>C (p.Leu427Pro)
NM_000127.3(EXT1):c.1349G>A (p.Gly450Glu)
NM_000127.3(EXT1):c.1352G>A (p.Gly451Glu)
NM_000127.3(EXT1):c.1417+6T>C
NM_000127.3(EXT1):c.1450A>T (p.Ile484Phe)
NM_000127.3(EXT1):c.1458G>A (p.Ala486=)
NM_000127.3(EXT1):c.1509T>A (p.Ala503=)
NM_000127.3(EXT1):c.1536G>C (p.Gln512His)
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.1765A>G (p.Ile589Val)
NM_000127.3(EXT1):c.1813C>T (p.Arg605Trp)
NM_000127.3(EXT1):c.1867G>A (p.Ala623Thr)
NM_000127.3(EXT1):c.1873A>G (p.Ile625Val)
NM_000127.3(EXT1):c.1885TAT[1] (p.Tyr630del)
NM_000127.3(EXT1):c.188G>T (p.Arg63Leu)
NM_000127.3(EXT1):c.18C>G (p.Arg6=)
NM_000127.3(EXT1):c.1936G>T (p.Val646Leu)
NM_000127.3(EXT1):c.197T>C (p.Val66Ala)
NM_000127.3(EXT1):c.2055+5G>A
NM_000127.3(EXT1):c.2072G>A (p.Arg691His) rs746678682
NM_000127.3(EXT1):c.2143A>G (p.Met715Val) rs1225915837
NM_000127.3(EXT1):c.2156A>C (p.His719Pro)
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
NM_000127.3(EXT1):c.2195A>G (p.Gln732Arg)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
NM_000127.3(EXT1):c.252G>C (p.Gln84His)
NM_000127.3(EXT1):c.318C>A (p.Phe106Leu)
NM_000127.3(EXT1):c.337G>A (p.Gly113Ser)
NM_000127.3(EXT1):c.344A>G (p.Lys115Arg)
NM_000127.3(EXT1):c.368A>G (p.Lys123Arg)
NM_000127.3(EXT1):c.422C>T (p.Ser141Phe)
NM_000127.3(EXT1):c.428T>C (p.Phe143Ser)
NM_000127.3(EXT1):c.449A>G (p.Gln150Arg)
NM_000127.3(EXT1):c.458T>C (p.Leu153Pro)
NM_000127.3(EXT1):c.499T>C (p.Ser167Pro)
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
NM_000127.3(EXT1):c.563G>A (p.Arg188Lys)
NM_000127.3(EXT1):c.564G>T (p.Arg188Ser)
NM_000127.3(EXT1):c.567_568delinsAT (p.Asn189_His190delinsLysTyr)
NM_000127.3(EXT1):c.568_570del (p.His190del)
NM_000127.3(EXT1):c.575T>A (p.Ile192Asn)
NM_000127.3(EXT1):c.593G>T (p.Gly198Val)
NM_000127.3(EXT1):c.595A>G (p.Thr199Ala)
NM_000127.3(EXT1):c.600G>C (p.Trp200Cys)
NM_000127.3(EXT1):c.608A>C (p.Tyr203Ser)
NM_000127.3(EXT1):c.60G>T (p.Leu20Phe)
NM_000127.3(EXT1):c.692_694del (p.Asp231del)
NM_000127.3(EXT1):c.70G>A (p.Gly24Arg)
NM_000127.3(EXT1):c.74G>A (p.Gly25Asp)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
NM_000127.3(EXT1):c.769C>T (p.Pro257Ser)
NM_000127.3(EXT1):c.873C>G (p.Asp291Glu)
NM_000127.3(EXT1):c.889A>T (p.Thr297Ser)
NM_000127.3(EXT1):c.934_936del (p.Cys312del)
NM_000127.3(EXT1):c.950C>G (p.Thr317Ser)
NM_000127.3(EXT1):c.995_1000del (p.Thr332_Cys334delinsSer)

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