ClinVar Miner

List of variants studied for connective tissue neoplasm by OMIM

Included ClinVar conditions (122):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP
ANTXR2, 1-BP DEL, 1074T
APC, 1-BP DEL, 3720T
APC, 2-BP INS, CODON 1924
APC, 4-BP DEL, 7929TCTA
ARHGAP26, 52-BP INS
ARHGAP26, 74-BP INS
CASR, ALU INS, CODON 877
EXT1, 1-BP DEL, 1364C
EXT1, 1-BP DEL, 2120T
EXT1, 1-BP INS, 2077C
EXT1, 4-BP INS, NT1035
MTAP, 885A-G, ARG100ARG
MTAP, IVS9AS, A-G, -2
NF1, IVS34, G-A, +18
NM_000038.5(APC):c.4575_4576insAlu1
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs) rs864622228
NM_000127.2(EXT1):c.1016G>A (p.Gly339Asp) rs119103288
NM_000127.2(EXT1):c.1019G>A (p.Arg340His) rs119103287
NM_000127.2(EXT1):c.1019G>T (p.Arg340Leu) rs119103287
NM_000127.2(EXT1):c.1664dup (p.Asn555fs) rs1586993159
NM_000127.2(EXT1):c.357C>A (p.Tyr119Ter) rs119103289
NM_000127.2(EXT1):c.528_535del (p.Lys177fs) rs587776540
NM_000127.2(EXT1):c.962+1G>C rs886039353
NM_000127.2(EXT1):c.962+3_962+6del rs1586279285
NM_000127.3(EXT1):c.1018C>T rs119103290
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000267.3(NF1):c.1642-8A>G rs267606602
NM_000267.3(NF1):c.4614G>A (p.Trp1538Ter) rs137854555
NM_000388.4(CASR):c.1745G>A (p.Cys582Tyr) rs104893690
NM_000388.4(CASR):c.1942C>T (p.Arg648Ter) rs104893705
NM_000388.4(CASR):c.2009G>A (p.Gly670Glu) rs104893700
NM_000388.4(CASR):c.2241_2242delinsT (p.Pro748fs) rs869320729
NM_000388.4(CASR):c.280G>T (p.Gly94Ter) rs104893709
NM_000388.4(CASR):c.553C>T (p.Arg185Ter) rs104893707
NM_000388.4(CASR):c.554G>A (p.Arg185Gln) rs104893689
NM_000388.4(CASR):c.680G>T (p.Arg227Leu) rs28936684
NM_000388.4(CASR):c.889G>A (p.Glu297Lys) rs121909259
NM_000401.3(EXT2):c.1404+1G>A rs864309637
NM_000401.3(EXT2):c.613C>T (p.Gln205Ter) rs121918279
NM_000401.3(EXT2):c.765C>G (p.Tyr255Ter) rs121918281
NM_000401.3(EXT2):c.778G>A (p.Asp260Asn) rs121918280
NM_000401.3(EXT2):c.843-2A>C rs864309638
NM_000401.3(EXT2):c.871C>T (p.Gln291Ter) rs267606786
NM_000435.3(NOTCH3):c.4556T>C (p.Leu1519Pro) rs367543285
NM_000516.6(GNAS):c.601C>T (p.Arg201Cys) rs11554273
NM_000516.6(GNAS):c.602G>A (p.Arg201His) rs121913495
NM_000516.6(GNAS):c.680A>G (p.Gln227Arg) rs121913494
NM_000546.5(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001135608.3(ARHGAP26):c.1250A>G (p.Asn417Ser) rs121918546
NM_001276697.2(TP53):c.-3_4dup (p.Ala2fs) rs863223301
NM_001285829.1(CEBPA):c.-107A>T rs28931590
NM_001285829.1(CEBPA):c.-147_-144dup rs587776849
NM_001285829.1(CEBPA):c.-210G>T rs121912791
NM_001285829.1(CEBPA):c.-243_-237del rs587776848
NM_001285829.1(CEBPA):c.-290del rs137852728
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001982.3(ERBB3):c.4009G>A (p.Ala1337Thr) rs755855285
NM_001987.4(ETV6):c.1307_1308insGGG (p.His436delinsGlnGly) rs587776710
NM_001987.4(ETV6):c.226G>T (p.Glu76Ter) rs121434637
NM_002049.3(GATA1):c.154_173dup (p.Ala59fs) rs398124628
NM_002070.4(GNAI2):c.535C>G (p.Arg179Gly) rs137853226
NM_002520.6(NPM1):c.860_863dupTCTG rs587776806
NM_002520.6(NPM1):c.863_864insCATG (p.Trp288fs) rs1554138188
NM_002520.6(NPM1):c.863_864insCCTG (p.Trp288fs) rs1554138189
NM_002520.6(NPM1):c.863_864insCGTG (p.Trp288fs) rs1554138188
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002609.4(PDGFRB):c.1681C>T (p.Arg561Cys) rs367543286
NM_002609.4(PDGFRB):c.1978C>A (p.Pro660Thr) rs144050370
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>T (p.Glu76Val) rs121918465
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_003977.4(AIP):c.40C>T (p.Gln14Ter) rs104894194
NM_003977.4(AIP):c.469-1G>A rs267606555
NM_003977.4(AIP):c.543del (p.Ile182fs) rs267606559
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) rs121908357
NM_003977.4(AIP):c.66_71del (p.Gly23_Glu24del) rs267606567
NM_003977.4(AIP):c.804C>A (p.Tyr268Ter) rs121908356
NM_003977.4(AIP):c.824dup (p.His275fs) rs267606580
NM_003977.4(AIP):c.910C>T (p.Arg304Ter) rs104894195
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
NM_004119.3(FLT3):c.2503G>A (p.Asp835Asn) rs121913488
NM_004119.3(FLT3):c.2503G>C (p.Asp835His) rs121913488
NM_004119.3(FLT3):c.2503G>T (p.Asp835Tyr) rs121913488
NM_004119.3(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004119.3(FLT3):c.2504A>T (p.Asp835Val) rs121909646
NM_004119.3(FLT3):c.2505T>A (p.Asp835Glu) rs121913487
NM_004119.3(FLT3):c.2520_2521insGGATCC (p.Asn841_Tyr842insGlySer) rs398122514
NM_004343.3(CALR):c.1092_1143del52 (p.Leu367Thrfs) rs1555760738
NM_004364.4(CEBPA):c.925_951dup (p.Glu309_Leu317dup) rs1555741967
NM_004364.4(CEBPA):c.935_991dup (p.Gln312_Gln330dup) rs1555741948
NM_004972.3(JAK2):c.1821G>C (p.Lys607Asn) rs121912472
NM_004972.3(JAK2):c.1849G>A (p.Val617Ile) rs77375493
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004985.5(KRAS):c.34G>A (p.Gly12Ser) rs121913530
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_005154.5(USP8):c.2152T>C (p.Ser718Pro) rs672601307
NM_005154.5(USP8):c.2152TCC[1] (p.Ser719del) rs672601306
NM_005154.5(USP8):c.2159C>G (p.Pro720Arg) rs672601311
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.931T>C (p.Phe311Leu) rs137853304
NM_005188.3(CBL):c.1112A>G (p.Tyr371Cys) rs387906666
NM_005373.2(MPL):c.117G>T (p.Lys39Asn) rs17292650
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1543_1544delinsAA (p.Trp515Lys) rs121913616
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005417.4(SRC):c.1579G>A (p.Glu527Lys) rs879255268
NM_005475.2(SH2B3):c.603_607del (p.Arg202fs) rs587776885
NM_005475.2(SH2B3):c.622G>C (p.Glu208Gln) rs202080221
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.49G>T (p.Ala17Ser) rs137853008
NM_015922.3(NSDHL):c.262C>T (p.Arg88Ter) rs104894903
NM_015922.3(NSDHL):c.314C>T (p.Ala105Val) rs104894909
NM_015922.3(NSDHL):c.451G>T (p.Glu151Ter) rs104894905
NM_015922.3(NSDHL):c.544G>C (p.Ala182Pro) rs104894904
NM_015922.3(NSDHL):c.613G>A (p.Gly205Ser) rs104894901
NM_015922.3(NSDHL):c.628C>T (p.Gln210Ter) rs104894902
NM_016592.4(GNAS):c.*587G>C rs137854533
NM_022124.6(CDH23):c.4136G>T (p.Arg1379Leu) rs767004225
NM_022124.6(CDH23):c.6344G>A (p.Arg2115His) rs1270566026
NM_022124.6(CDH23):c.9412C>T (p.Arg3138Trp) rs1052484950
NM_022124.6(CDH23):c.9886G>A (p.Asp3296Asn) rs372388344
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys) rs377577594
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His) rs147001633
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_033360.4(KRAS):c.27_29dup (p.Gly10dup) rs606231202
NM_054021.1(GPR101):c.1098C>A (p.Asp366Glu) rs1556379508
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_058172.6(ANTXR2):c.1073dup (p.Ala359fs) rs312262690
NM_058172.6(ANTXR2):c.1142A>G (p.Tyr381Cys) rs137852901
NM_058172.6(ANTXR2):c.1179G>A (p.Glu393=) rs546102223
NM_058172.6(ANTXR2):c.314G>A (p.Gly105Asp) rs137852902
NM_058172.6(ANTXR2):c.566T>C (p.Ile189Thr) rs137852905
NM_058172.6(ANTXR2):c.658G>T (p.Glu220Ter) rs137852904
NM_058172.6(ANTXR2):c.986T>G (p.Leu329Arg) rs137852903
NM_133171.5(ELMO2):c.1065+1G>A rs768410753
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133171.5(ELMO2):c.2080del (p.Leu694fs) rs886037919
NM_207122.2(EXT2):c.1052C>T (p.Pro351Leu)
NM_207122.2(EXT2):c.454_457del (p.Val154fs) rs864309636
NM_207122.2(EXT2):c.863A>G (p.Asn288Ser)
PDGFB, PDGFB/COL1A1 FUSION
THPO, 1-BP DEL, 3252G
THPO, 516G-T
THPO, IVS3, G-C, +1

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