ClinVar Miner

List of variants reported as pathogenic for cardiovascular organ benign neoplasm

Included ClinVar conditions (43):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 153
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HGVS dbSNP
46;XY;inv(6)(p22q13)dn
46;XY;t(7;13)(p15.3;q14.1)dn
NC_000001.10:g.(?_17345366)_(17345463_?)del
NC_000001.10:g.(?_17345366)_(17380524_?)del
NC_000001.10:g.(?_17345370)_(17359646_?)del
NC_000001.10:g.(?_17345376)_(17397986_?)del
NC_000001.10:g.(?_17359545)_(17359650_?)del
NC_000001.10:g.(?_17359549)_(17359646_?)del
NC_000001.10:g.(?_17371246)_(17371393_?)del
NC_000001.10:g.(?_17371256)_(17371383_?)del
NC_000001.10:g.(?_17380433)_(17380524_?)del
NC_000001.10:g.(?_17380437)_(17380520_?)del
NC_000011.9:g.(?_111957622)_(111965704_?)del
NC_000011.9:g.(?_111959581)_(111965704_?)del
NC_000011.9:g.(?_111965519)_(111965704_?)del
NC_000011.9:g.(?_111965523)_(111965700_?)del
NM_000118.3(ENG):c.1583del (p.Pro528fs) rs1554809253
NM_000118.3(ENG):c.920dup (p.Asn307fs) rs1554810174
NM_000314.7(PTEN):c.675T>G (p.Tyr225Ter) rs1057520900
NM_000368.4(TSC1):c.2356C>T (p.Arg786Ter) rs118203682
NM_000546.5(TP53):c.475_481dup (p.Ala161fs) rs863223301
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.854A>T (p.Glu285Val) rs121912667
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000551.3(VHL):c.188T>C (p.Leu63Pro) rs104893827
NM_000551.3(VHL):c.191G>C (p.Arg64Pro) rs104893826
NM_000551.3(VHL):c.194C>T (p.Ser65Leu) rs5030826
NM_000551.3(VHL):c.263G>C (p.Trp88Ser) rs119103277
NM_000551.3(VHL):c.277G>A (p.Gly93Ser) rs5030808
NM_000551.3(VHL):c.405A>C (p.Leu135Phe) rs119103278
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000551.3(VHL):c.562C>G (p.Leu188Val) rs5030824
NM_000969.5(RPL5):c.74-1G>C rs1553284997
NM_002253.3(KDR):c.3439C>T (p.Pro1147Ser) rs121917766
NM_003000.2(SDHB):c.-151_*159del
NM_003000.2(SDHB):c.112del (p.Arg38fs) rs398123690
NM_003000.2(SDHB):c.126del (p.Phe42fs) rs878854572
NM_003000.2(SDHB):c.136C>G (p.Arg46Gly) rs74315370
NM_003000.2(SDHB):c.136C>T (p.Arg46Ter) rs74315370
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.2(SDHB):c.141G>A (p.Trp47Ter) rs1060503762
NM_003000.2(SDHB):c.143_144dup (p.Pro49fs)
NM_003000.2(SDHB):c.148_151dup (p.Lys51fs)
NM_003000.2(SDHB):c.166_170del (p.Pro56fs) rs786202100
NM_003000.2(SDHB):c.200+5G>C rs1553178726
NM_003000.2(SDHB):c.210dup (p.Met71fs) rs794728947
NM_003000.2(SDHB):c.221A>C (p.Asp74Ala) rs876658713
NM_003000.2(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003000.2(SDHB):c.271A>T (p.Arg91Ter) rs878854575
NM_003000.2(SDHB):c.286+1G>A rs786201063
NM_003000.2(SDHB):c.286+2T>A rs587781270
NM_003000.2(SDHB):c.287-1G>C rs397516833
NM_003000.2(SDHB):c.299C>T (p.Ser100Phe) rs121917755
NM_003000.2(SDHB):c.302G>A (p.Cys101Tyr) rs74315371
NM_003000.2(SDHB):c.311delinsGG (p.Asn104fs) rs786201316
NM_003000.2(SDHB):c.329_330CT[1] (p.Leu111fs) rs1060503751
NM_003000.2(SDHB):c.343C>T (p.Arg115Ter) rs751000085
NM_003000.2(SDHB):c.374C>G (p.Ser125Ter) rs786203506
NM_003000.2(SDHB):c.380T>G (p.Ile127Ser) rs786201095
NM_003000.2(SDHB):c.399dup (p.Tyr134fs) rs1557741425
NM_003000.2(SDHB):c.418G>T (p.Val140Phe) rs267607032
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.441T>G (p.Tyr147Ter) rs1060503763
NM_003000.2(SDHB):c.491del (p.Gln164fs) rs1553177678
NM_003000.2(SDHB):c.499A>T (p.Lys167Ter) rs1060503753
NM_003000.2(SDHB):c.505C>T (p.Gln169Ter) rs1553177676
NM_003000.2(SDHB):c.541-2A>G rs786201161
NM_003000.2(SDHB):c.574T>C (p.Cys192Arg) rs786202732
NM_003000.2(SDHB):c.591del (p.Ser198fs) rs1060503757
NM_003000.2(SDHB):c.600G>T (p.Trp200Cys) rs397516836
NM_003000.2(SDHB):c.602G>A (p.Trp201Ter) rs1060503759
NM_003000.2(SDHB):c.607_616del (p.Gly203fs) rs587782617
NM_003000.2(SDHB):c.608del (p.Gly203fs) rs1553177436
NM_003000.2(SDHB):c.609_622dup (p.Gly208fs)
NM_003000.2(SDHB):c.620_621del (p.Leu207fs) rs1060503752
NM_003000.2(SDHB):c.63dup (p.Cys22fs)
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.653G>A (p.Trp218Ter)
NM_003000.2(SDHB):c.656_707dup (p.Pro237_Phe238insAspTer)
NM_003000.2(SDHB):c.681_682AG[1] (p.Glu228fs) rs762812025
NM_003000.2(SDHB):c.685_686insCGCTTCACAGAGG (p.Glu229fs) rs1209914140
NM_003000.2(SDHB):c.688C>T (p.Arg230Cys) rs138996609
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.2(SDHB):c.689G>T (p.Arg230Leu) rs587782604
NM_003000.2(SDHB):c.70C>T (p.Gln24Ter)
NM_003000.2(SDHB):c.716_719delCTCT rs587781266
NM_003000.2(SDHB):c.717dup (p.Leu240fs) rs1060503764
NM_003000.2(SDHB):c.72+1G>T rs587782703
NM_003000.2(SDHB):c.724C>T (p.Arg242Cys) rs786203251
NM_003000.2(SDHB):c.725G>A (p.Arg242His) rs74315368
NM_003000.2(SDHB):c.79C>T (p.Arg27Ter) rs74315369
NM_003002.3(SDHD):c.-84_*831del
NM_003002.4(SDHD):c.10dup (p.Leu4fs) rs878854589
NM_003002.4(SDHD):c.112C>T (p.Arg38Ter) rs80338843
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter) rs104894308
NM_003002.4(SDHD):c.13_14del (p.Trp5fs) rs1566690018
NM_003002.4(SDHD):c.14G>A (p.Trp5Ter) rs104894310
NM_003002.4(SDHD):c.155C>A (p.Ser52Ter) rs587782210
NM_003002.4(SDHD):c.170-1G>T rs1306475361
NM_003002.4(SDHD):c.173del (p.Gly58fs) rs878854590
NM_003002.4(SDHD):c.187_188TC[2] (p.Leu64fs) rs387906358
NM_003002.4(SDHD):c.1A>G (p.Met1Val) rs104894307
NM_003002.4(SDHD):c.1A>T (p.Met1Leu) rs104894307
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003002.4(SDHD):c.242del (p.Pro81fs) rs878854591
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845
NM_003002.4(SDHD):c.314G>A (p.Trp105Ter) rs1131691065
NM_003002.4(SDHD):c.315G>A (p.Trp105Ter) rs1060503769
NM_003002.4(SDHD):c.325C>T (p.Gln109Ter) rs1060503770
NM_003002.4(SDHD):c.337_340del (p.Asp113fs) rs587776648
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter) rs104894309
NM_003002.4(SDHD):c.341A>G (p.Tyr114Cys) rs104894304
NM_003002.4(SDHD):c.342T>A (p.Tyr114Ter) rs1050032491
NM_003002.4(SDHD):c.3G>A (p.Met1Ile)
NM_003002.4(SDHD):c.3G>C (p.Met1Ile) rs80338842
NM_003002.4(SDHD):c.57del (p.Leu20fs) rs587776649
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter) rs104894306
NM_003002.4(SDHD):c.92_93TC[1] (p.Ala33fs) rs397514034
NM_003002.4(SDHD):c.95C>A (p.Ser32Ter) rs104894305
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_004985.5(KRAS):c.458A>T (p.Asp153Val) rs104894360
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006513.4(SARS1):c.971T>C (p.Ile324Thr) rs1553178399
NM_014319.5(LEMD3):c.2639C>G (p.Thr880Ser) rs1555196298
NM_015074.3(KIF1B):c.4442G>A (p.Ser1481Asn) rs121908164
NM_017849.3(TMEM127):c.117_120del (p.Ile41fs) rs121908816
NM_020732.3(ARID1B):c.5968C>T (p.Arg1990Ter) rs797045283
NM_020975.6(RET):c.1852T>G (p.Cys618Gly) rs76262710
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1900T>G (p.Cys634Gly) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1901G>C (p.Cys634Ser) rs75996173
NM_020975.6(RET):c.1901G>T (p.Cys634Phe) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_031220.4(PITPNM3):c.274C>T (p.Arg92Ter) rs1555556099
NM_031443.3(CCM2):c.354C>G (p.Tyr118Ter) rs765548101
NM_053274.3(GLMN):c.108C>A (p.Cys36Ter) rs770780171
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_182925.5(FLT4):c.2860C>T (p.Pro954Ser) rs34255532
NM_194456.1(KRIT1):c.902C>G (p.Ser301Ter) rs1554527169

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