ClinVar Miner

List of variants reported as likely pathogenic for vascular neoplasm

Included ClinVar conditions (60):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_002253.4(KDR):c.2312C>T (p.Thr771Met) rs149745504 0.00198
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523 0.00006
NM_000551.4(VHL):c.628C>T (p.Arg210Trp) rs774380450 0.00003
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_001395002.1(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462 0.00002
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_002473.6(MYH9):c.5308C>T (p.Arg1770Cys) rs1430793034 0.00001
NM_004444.5(EPHB4):c.1405G>A (p.Val469Ile) rs775083333 0.00001
NM_007217.4(PDCD10):c.474+5G>A rs1553759139 0.00001
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198 0.00001
NM_133171.5(ELMO2):c.1447C>T (p.Arg483Ter) rs1372506599 0.00001
46;XX;ins(3;1)(q23;p22p32)dn
46;XX;t(4;14)(p15.2;q13)dn
46;XX;t(6;17)(q13;q21)dn
NM_000081.4(LYST):c.11149_11151dup (p.Val3717_Ser3718insVal)
NM_000362.5(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_000459.5(TEK):c.3314_3315delinsTGACCT (p.Thr1105fs) rs2131267739
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1101-1G>A rs876658982
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.298del (p.Gln100fs) rs1567556006
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.652del (p.Val218fs)
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_724del (p.Ser241del)
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.75-7_82delinsA
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.808T>C (p.Phe270Leu) rs1057519988
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_000546.6(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_000546.6(TP53):c.917_919+5delinsAGGA
NM_000546.6(TP53):c.993+1G>T rs11575997
NM_000546.6(TP53):c.993+2T>C rs1597359053
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001142864.4(PIEZO1):c.5040C>A (p.Tyr1680Ter)
NM_001256071.3(RNF213):c.114C>G (p.Asn38Lys)
NM_001284236.3(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_001367977.2(SCUBE2):c.2057G>A (p.Cys686Tyr) rs1555238867
NM_001530.4(HIF1A):c.1369G>A (p.Glu457Lys)
NM_001530.4(HIF1A):c.148G>C (p.Val50Leu)
NM_001530.4(HIF1A):c.1961C>T (p.Ala654Val)
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_001844.5(COL2A1):c.1955A>G (p.Glu652Gly) rs2136556852
NM_002524.5(NRAS):c.191_196dup (p.Ser65_Ala66insAspSer)
NM_004297.4(GNA14):c.614A>T (p.Gln205Leu) rs1554685903
NM_004985.5(KRAS):c.197_223dup (p.Ala66_Thr74dup) rs2141509708
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3196_3203del (p.Ala1066fs)
NM_080680.3(COL11A2):c.966dup (p.Thr323fs) rs748440351
NM_133171.5(ELMO2):c.1525C>T (p.Arg509Ter) rs1568748859
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_182925.5(FLT4):c.3410C>T (p.Pro1137Leu) rs1762335528
NM_194454.3(KRIT1):c.990-1G>A rs1554518790
t(6;9)(q22.1;q34.3)

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