ClinVar Miner

List of variants reported as uncertain significance for connective tissue neoplasm by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 321
Download table as spreadsheet
HGVS dbSNP
NC_000011.10:g.44095641G>T
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.1239G>T (p.Glu413Asp) rs756701753
NM_000127.2(EXT1):c.210A>G (p.Gln70=) rs367543871
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.1266T>A (p.Ile422=)
NM_000127.3(EXT1):c.1417+6T>C
NM_000127.3(EXT1):c.1674A>G (p.Thr558=)
NM_000127.3(EXT1):c.1743G>A (p.Val581=) rs375284779
NM_000127.3(EXT1):c.2159C>G (p.Ser720Cys)
NM_000127.3(EXT1):c.2205T>C (p.Ile735=)
NM_000127.3(EXT1):c.518A>G (p.Asn173Ser)
NM_000127.3(EXT1):c.757T>C (p.Phe253Leu)
NM_000388.4(CASR):c.*1011T>A
NM_000388.4(CASR):c.*103A>C rs199899073
NM_000388.4(CASR):c.*1169C>T rs200652347
NM_000388.4(CASR):c.*1193C>T rs886057835
NM_000388.4(CASR):c.*1197C>G rs886057836
NM_000388.4(CASR):c.*1201C>T rs886057837
NM_000388.4(CASR):c.*1298A>G
NM_000388.4(CASR):c.*251G>C
NM_000388.4(CASR):c.*625G>A rs886057833
NM_000388.4(CASR):c.*640G>T rs201855028
NM_000388.4(CASR):c.*790T>C rs886057834
NM_000388.4(CASR):c.*923T>C rs201230484
NM_000388.4(CASR):c.-10C>T rs753659949
NM_000388.4(CASR):c.-111C>A rs201098532
NM_000388.4(CASR):c.-137C>A rs201074178
NM_000388.4(CASR):c.-137C>T
NM_000388.4(CASR):c.-154T>A rs186365367
NM_000388.4(CASR):c.108G>A (p.Gly36=) rs781573002
NM_000388.4(CASR):c.1188A>G (p.Thr396=) rs200312817
NM_000388.4(CASR):c.1307C>G (p.Thr436Ser)
NM_000388.4(CASR):c.1665T>C (p.Ile555=) rs201955278
NM_000388.4(CASR):c.1733-9A>G rs190731787
NM_000388.4(CASR):c.1752G>A (p.Lys584=) rs138638329
NM_000388.4(CASR):c.183C>T (p.Ile61=)
NM_000388.4(CASR):c.1923C>T (p.Pro641=) rs368093724
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744
NM_000388.4(CASR):c.2147G>A (p.Arg716His) rs201670662
NM_000388.4(CASR):c.2255G>A (p.Arg752His) rs771529256
NM_000388.4(CASR):c.2549C>G (p.Ala850Gly)
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.2955C>T (p.Asn985=) rs199884115
NM_000388.4(CASR):c.3054C>T (p.Cys1018=) rs371038712
NM_000388.4(CASR):c.3168G>T (p.Val1056=) rs886057831
NM_000388.4(CASR):c.3234A>T (p.Ser1078=) rs556263764
NM_000388.4(CASR):c.32T>C (p.Leu11Ser) rs200673016
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143
NM_000388.4(CASR):c.649G>A (p.Asp217Asn) rs201091657
NM_000388.4(CASR):c.6A>C (p.Ala2=) rs112042188
NM_000388.4(CASR):c.930C>T (p.Tyr310=) rs201737357
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.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.304G>A (p.Val102Ile) rs200809171
NM_000401.3(EXT2):c.74G>T (p.Cys25Phe) rs369437823
NM_000401.3(EXT2):c.904C>T (p.Leu302=) rs773486418
NM_000401.3(EXT2):c.959C>A (p.Thr320Asn) rs886048275
NM_000460.4(THPO):c.*108C>T
NM_000460.4(THPO):c.*191T>G
NM_000460.4(THPO):c.*27A>G
NM_000460.4(THPO):c.*366G>C
NM_000460.4(THPO):c.*404G>A rs573846929
NM_000460.4(THPO):c.*480G>A
NM_000460.4(THPO):c.*500A>G rs886058217
NM_000460.4(THPO):c.-123C>T rs535707667
NM_000460.4(THPO):c.-215T>A rs886058219
NM_000460.4(THPO):c.-56G>A rs187556243
NM_000460.4(THPO):c.14-11C>T
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378
NM_000460.4(THPO):c.303A>G (p.Gln101=) rs775232517
NM_000460.4(THPO):c.517G>A (p.Val173Ile) rs780992873
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253
NM_000460.4(THPO):c.671G>A (p.Gly224Glu) rs886058218
NM_000460.4(THPO):c.740T>C (p.Leu247Pro)
NM_000460.4(THPO):c.791_794del (p.Pro264fs) rs760659440
NM_000460.4(THPO):c.796C>T (p.Arg266Cys)
NM_000460.4(THPO):c.808G>A (p.Gly270Arg)
NM_000460.4(THPO):c.889A>G (p.Thr297Ala) rs530613857
NM_000460.4(THPO):c.963C>T (p.His321=)
NM_001286780.2(ANTXR2):c.-80+121A>T rs886059665
NM_002451.4(MTAP):c.*102A>G rs755040797
NM_002451.4(MTAP):c.*1093G>T
NM_002451.4(MTAP):c.*1140A>G rs886063785
NM_002451.4(MTAP):c.*1197C>G rs886063786
NM_002451.4(MTAP):c.*1384G>C rs755911467
NM_002451.4(MTAP):c.*1399C>A
NM_002451.4(MTAP):c.*1453C>T
NM_002451.4(MTAP):c.*1482A>G rs560361151
NM_002451.4(MTAP):c.*1558G>C
NM_002451.4(MTAP):c.*1608del rs886063787
NM_002451.4(MTAP):c.*1621_*1622del rs11358276
NM_002451.4(MTAP):c.*1668T>C
NM_002451.4(MTAP):c.*1760A>G rs886063788
NM_002451.4(MTAP):c.*1831T>A rs886063789
NM_002451.4(MTAP):c.*1836C>G
NM_002451.4(MTAP):c.*2033G>A
NM_002451.4(MTAP):c.*2111A>G
NM_002451.4(MTAP):c.*2171G>A rs886063790
NM_002451.4(MTAP):c.*2183T>C
NM_002451.4(MTAP):c.*2269A>T
NM_002451.4(MTAP):c.*2286A>G
NM_002451.4(MTAP):c.*2333C>G
NM_002451.4(MTAP):c.*2383C>T rs886063791
NM_002451.4(MTAP):c.*2481T>C
NM_002451.4(MTAP):c.*254A>T
NM_002451.4(MTAP):c.*258del rs886063782
NM_002451.4(MTAP):c.*2606G>C rs886063792
NM_002451.4(MTAP):c.*2638G>A rs556394357
NM_002451.4(MTAP):c.*2651G>A rs569725867
NM_002451.4(MTAP):c.*2660C>A
NM_002451.4(MTAP):c.*2693G>A
NM_002451.4(MTAP):c.*2740G>A
NM_002451.4(MTAP):c.*2837T>A rs566068002
NM_002451.4(MTAP):c.*2912G>C rs775831366
NM_002451.4(MTAP):c.*2937C>G
NM_002451.4(MTAP):c.*2968T>C rs554780978
NM_002451.4(MTAP):c.*303G>A
NM_002451.4(MTAP):c.*3052C>T rs182636316
NM_002451.4(MTAP):c.*3057T>A
NM_002451.4(MTAP):c.*3060A>G
NM_002451.4(MTAP):c.*3072G>A rs768885564
NM_002451.4(MTAP):c.*3160T>C
NM_002451.4(MTAP):c.*3206C>T rs886063793
NM_002451.4(MTAP):c.*3276A>G
NM_002451.4(MTAP):c.*3361C>T rs138870323
NM_002451.4(MTAP):c.*3389T>C rs765432220
NM_002451.4(MTAP):c.*3501T>C
NM_002451.4(MTAP):c.*3656A>G
NM_002451.4(MTAP):c.*3692G>A
NM_002451.4(MTAP):c.*3766C>T rs149649469
NM_002451.4(MTAP):c.*3774A>G
NM_002451.4(MTAP):c.*378T>C rs886063783
NM_002451.4(MTAP):c.*3943G>A rs886063794
NM_002451.4(MTAP):c.*395A>G
NM_002451.4(MTAP):c.*730A>G
NM_002451.4(MTAP):c.*795A>T
NM_002451.4(MTAP):c.*912A>G
NM_002451.4(MTAP):c.-108_-103del rs886063780
NM_002451.4(MTAP):c.-52G>C
NM_002451.4(MTAP):c.119A>G (p.Lys40Arg)
NM_002451.4(MTAP):c.187A>G (p.Arg63Gly) rs886063781
NM_002451.4(MTAP):c.224A>G (p.Gln75Arg)
NM_002451.4(MTAP):c.300G>A (p.Glu100=) rs762121645
NM_003977.4(AIP):c.-12C>G rs551077555
NM_003977.4(AIP):c.-2G>C rs377710724
NM_003977.4(AIP):c.-85C>T
NM_003977.4(AIP):c.102C>G (p.Ala34=) rs886048584
NM_003977.4(AIP):c.166C>T (p.Arg56Cys)
NM_003977.4(AIP):c.174G>C (p.Lys58Asn) rs267606539
NM_003977.4(AIP):c.249G>A (p.Gly83=)
NM_003977.4(AIP):c.379A>G (p.Met127Val) rs1591044815
NM_003977.4(AIP):c.468+3G>A rs868823652
NM_003977.4(AIP):c.660C>T (p.Ser220=) rs776495655
NM_003977.4(AIP):c.944A>C (p.Gln315Pro) rs886048585
NM_005373.2(MPL):c.*1112G>A rs543515941
NM_005373.2(MPL):c.*1216A>G rs886046356
NM_005373.2(MPL):c.*1351T>C rs886046357
NM_005373.2(MPL):c.*1506G>C rs115780311
NM_005373.2(MPL):c.*657C>T rs886046352
NM_005373.2(MPL):c.*701_*705dup rs752218261
NM_005373.2(MPL):c.*705del rs752218261
NM_005373.2(MPL):c.*86C>T rs777930147
NM_005373.2(MPL):c.*871G>A rs540648773
NM_005373.2(MPL):c.*882C>T rs777894453
NM_005373.2(MPL):c.*924C>G rs886046354
NM_005373.2(MPL):c.*971G>A rs886046355
NM_005373.2(MPL):c.1051C>T (p.Arg351Cys) rs201998783
NM_005373.2(MPL):c.1238C>T (p.Pro413Leu) rs886046350
NM_005373.2(MPL):c.1331C>A (p.Ala444Asp) rs886046351
NM_005373.2(MPL):c.1337G>A (p.Gly446Glu) rs561724539
NM_005373.2(MPL):c.1467C>T (p.Thr489=) rs759161511
NM_005373.2(MPL):c.196C>T (p.Leu66=) rs886046349
NM_005373.2(MPL):c.95C>T (p.Ala32Val) rs886046348
NM_058172.6(ANTXR2):c.*1085T>C
NM_058172.6(ANTXR2):c.*1099C>T
NM_058172.6(ANTXR2):c.*1113C>T
NM_058172.6(ANTXR2):c.*1114G>A
NM_058172.6(ANTXR2):c.*1126T>A
NM_058172.6(ANTXR2):c.*1133G>A
NM_058172.6(ANTXR2):c.*1136C>T
NM_058172.6(ANTXR2):c.*1295T>C
NM_058172.6(ANTXR2):c.*130A>G
NM_058172.6(ANTXR2):c.*1397G>A
NM_058172.6(ANTXR2):c.*1476G>A
NM_058172.6(ANTXR2):c.*1501G>T
NM_058172.6(ANTXR2):c.*1682T>C
NM_058172.6(ANTXR2):c.*1795G>A
NM_058172.6(ANTXR2):c.*2187A>C
NM_058172.6(ANTXR2):c.*2225A>G
NM_058172.6(ANTXR2):c.*2226A>T
NM_058172.6(ANTXR2):c.*2256T>C
NM_058172.6(ANTXR2):c.*2306A>G
NM_058172.6(ANTXR2):c.*2429G>A
NM_058172.6(ANTXR2):c.*2446C>T
NM_058172.6(ANTXR2):c.*245A>G
NM_058172.6(ANTXR2):c.*2550T>C
NM_058172.6(ANTXR2):c.*263C>T
NM_058172.6(ANTXR2):c.*2666A>C
NM_058172.6(ANTXR2):c.*2839G>T
NM_058172.6(ANTXR2):c.*2888G>A
NM_058172.6(ANTXR2):c.*2899A>G
NM_058172.6(ANTXR2):c.*2959C>G
NM_058172.6(ANTXR2):c.*3105A>G
NM_058172.6(ANTXR2):c.*3212T>C
NM_058172.6(ANTXR2):c.*3371C>A
NM_058172.6(ANTXR2):c.*3468A>G
NM_058172.6(ANTXR2):c.*3473A>G
NM_058172.6(ANTXR2):c.*3533G>A
NM_058172.6(ANTXR2):c.*3544A>G
NM_058172.6(ANTXR2):c.*3597T>G
NM_058172.6(ANTXR2):c.*3602A>G
NM_058172.6(ANTXR2):c.*3606A>G
NM_058172.6(ANTXR2):c.*3707G>A
NM_058172.6(ANTXR2):c.*380T>C
NM_058172.6(ANTXR2):c.*3843G>A
NM_058172.6(ANTXR2):c.*3888T>G
NM_058172.6(ANTXR2):c.*3953G>A
NM_058172.6(ANTXR2):c.*4058A>T
NM_058172.6(ANTXR2):c.*4194C>T
NM_058172.6(ANTXR2):c.*4201A>G
NM_058172.6(ANTXR2):c.*4223T>C
NM_058172.6(ANTXR2):c.*4264T>A
NM_058172.6(ANTXR2):c.*4332G>A
NM_058172.6(ANTXR2):c.*4462A>G
NM_058172.6(ANTXR2):c.*4504C>T
NM_058172.6(ANTXR2):c.*4576A>G
NM_058172.6(ANTXR2):c.*4668T>C
NM_058172.6(ANTXR2):c.*4703T>A
NM_058172.6(ANTXR2):c.*4712C>T
NM_058172.6(ANTXR2):c.*4847C>T
NM_058172.6(ANTXR2):c.*4917G>A
NM_058172.6(ANTXR2):c.*5266A>C
NM_058172.6(ANTXR2):c.*5310T>G
NM_058172.6(ANTXR2):c.*5358A>G
NM_058172.6(ANTXR2):c.*5413A>G
NM_058172.6(ANTXR2):c.*5524C>T
NM_058172.6(ANTXR2):c.*5525G>A
NM_058172.6(ANTXR2):c.*5527A>G
NM_058172.6(ANTXR2):c.*559G>A
NM_058172.6(ANTXR2):c.*5761A>G
NM_058172.6(ANTXR2):c.*702A>C
NM_058172.6(ANTXR2):c.*703C>T
NM_058172.6(ANTXR2):c.*728G>A
NM_058172.6(ANTXR2):c.*752C>G
NM_058172.6(ANTXR2):c.-130G>A rs886059659
NM_058172.6(ANTXR2):c.-169T>C
NM_058172.6(ANTXR2):c.-261G>T
NM_058172.6(ANTXR2):c.-262A>G rs886059660
NM_058172.6(ANTXR2):c.-266G>A
NM_058172.6(ANTXR2):c.-366G>C rs886059661
NM_058172.6(ANTXR2):c.-410dup rs886059662
NM_058172.6(ANTXR2):c.-441C>T rs778888047
NM_058172.6(ANTXR2):c.-442C>G rs886059663
NM_058172.6(ANTXR2):c.-455C>T rs886059664
NM_058172.6(ANTXR2):c.-505G>C rs780730755
NM_058172.6(ANTXR2):c.-5G>A rs765908500
NM_058172.6(ANTXR2):c.-634C>T
NM_058172.6(ANTXR2):c.1070C>G (p.Ala357Gly)
NM_058172.6(ANTXR2):c.1247T>C (p.Val416Ala)
NM_058172.6(ANTXR2):c.1309C>T (p.His437Tyr)
NM_058172.6(ANTXR2):c.1347+9C>T rs112023055
NM_058172.6(ANTXR2):c.1349G>A (p.Gly450Asp)
NM_058172.6(ANTXR2):c.1392C>A (p.Asp464Glu) rs770869771
NM_058172.6(ANTXR2):c.1432C>T (p.Arg478Trp)
NM_058172.6(ANTXR2):c.195C>T (p.Phe65=) rs375440055
NM_058172.6(ANTXR2):c.233T>C (p.Met78Thr) rs886059658
NM_058172.6(ANTXR2):c.252G>A (p.Val84=) rs886059657
NM_058172.6(ANTXR2):c.380C>T (p.Ala127Val)
NM_058172.6(ANTXR2):c.637-21dup rs373672335
NM_058172.6(ANTXR2):c.712G>A (p.Val238Ile)
NM_058172.6(ANTXR2):c.745C>T (p.Arg249Trp) rs377185226
NM_058172.6(ANTXR2):c.796+3A>C
NM_058172.6(ANTXR2):c.945+7A>G
NM_058172.6(ANTXR2):c.98C>T (p.Ala33Val) rs756775841
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.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.1726G>A (p.Glu576Lys)
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.50G>A (p.Arg17Lys)
NM_207122.2(EXT2):c.545G>A (p.Arg182Gln)
NM_207122.2(EXT2):c.749G>A (p.Arg250Gln)
NM_207122.2(EXT2):c.895C>T (p.Arg299Cys)
NM_207122.2(EXT2):c.937C>G (p.Gln313Glu)

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