ClinVar Miner

List of variants reported as likely pathogenic for cardiovascular organ benign neoplasm

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 67
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HGVS dbSNP
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_000362.4(TIMP3):c.311T>C (p.Leu104Pro) rs1555985260
NM_000546.5(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000551.3(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.3(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.3(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.3(VHL):c.588dupA (p.Asp197Argfs) rs864321640
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001170690.2(SCUBE2):c.1592G>A (p.Cys531Tyr) rs1555238867
NM_001242559.2(MAP4K4):c.1694G>A (p.Arg565Gln) rs781410462
NM_001792.5(CDH2):c.2075A>G (p.Asn692Ser) rs1555630396
NM_002473.5(MYH9):c.5308C>T (p.Arg1770Cys) rs1430793034
NM_003000.2(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.2(SDHB):c.143A>T (p.Asp48Val) rs202101384
NM_003000.2(SDHB):c.1A>T (p.Met1Leu) rs1131691049
NM_003000.2(SDHB):c.201-2A>C rs878854574
NM_003000.2(SDHB):c.201-?_765+?dup
NM_003000.2(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.2(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.2(SDHB):c.286G>A (p.Gly96Ser) rs587782243
NM_003000.2(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003000.2(SDHB):c.590C>G (p.Pro197Arg) rs74315367
NM_003000.2(SDHB):c.598T>C (p.Trp200Arg) rs1557739966
NM_003000.2(SDHB):c.649C>T (p.Arg217Cys) rs200245469
NM_003000.2(SDHB):c.724C>A (p.Arg242Ser) rs786203251
NM_003000.2(SDHB):c.73-1G>T
NM_003000.2(SDHB):c.780dup (p.Lys261fs) rs1557738304
NM_003000.2(SDHB):c.784_787dup (p.Ile263fs) rs1553176976
NM_003000.2(SDHB):c.785_786insG (p.Ile263fs) rs1553176979
NM_003002.3(SDHD):c.386delT rs864321644
NM_003002.4(SDHD):c.305A>T (p.His102Leu) rs104894302
NM_003002.4(SDHD):c.314+1G>A rs1555187083
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg) rs876658477
NM_003002.4(SDHD):c.394del (p.Ser132fs) rs1060503773
NM_003002.4(SDHD):c.52+2T>C
NM_003002.4(SDHD):c.53-1_53delinsTT rs1566691921
NM_005228.5(EGFR):c.1881-858G>T rs909905659
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp) rs587776935
NM_007217.4(PDCD10):c.474+5G>A rs1553759139
NM_014733.6(ZFYVE16):c.3442G>T (p.Asp1148Tyr) rs1554047435
NM_017563.5(IL17RD):c.676G>A (p.Gly226Ser) rs577890523
NM_017849.3(TMEM127):c.-18C>T rs121908813
NM_017849.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_017849.3(TMEM127):c.149dup (p.Pro51fs) rs121908817
NM_017849.3(TMEM127):c.158G>C (p.Trp53Ser) rs121908818
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017849.3(TMEM127):c.217G>C (p.Gly73Arg) rs121908820
NM_017849.3(TMEM127):c.245-1G>T rs121908821
NM_017849.3(TMEM127):c.265_268del (p.Thr89fs) rs121908822
NM_017849.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_017849.3(TMEM127):c.280C>T (p.Arg94Trp) rs121908824
NM_017849.3(TMEM127):c.3G>T (p.Met1Ile) rs121908814
NM_017849.3(TMEM127):c.409+1G>T rs121908825
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017849.3(TMEM127):c.418T>C (p.Cys140Arg) rs121908827
NM_017849.3(TMEM127):c.419G>A (p.Cys140Tyr) rs121908828
NM_017849.3(TMEM127):c.447G>A (p.Trp149Ter) rs121908829
NM_017849.3(TMEM127):c.475C>T (p.Gln159Ter) rs121908830
NM_017849.3(TMEM127):c.627_640dup (p.Met214fs) rs121908831
NM_017849.3(TMEM127):c.76C>T (p.Gln26Ter) rs121908815
NM_020975.6(RET):c.1947G>A (p.Ser649=) rs377767412
NM_024870.4(PREX2):c.3355G>A (p.Ala1119Thr) rs778089198
NM_194456.1(KRIT1):c.990-1G>A rs1554518790

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