ClinVar Miner

List of variants reported as pathogenic for male reproductive system neoplasm

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_001142616.3(EHBP1):c.1185+30064G>A rs721048 0.13334
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_017449.5(EPHB2):c.835G>T (p.Ala279Ser) rs35882952 0.00424
NM_021133.4(RNASEL):c.793G>T (p.Glu265Ter) rs74315364 0.00334
NM_017449.5(EPHB2):c.2032G>A (p.Asp678Asn) rs28936395 0.00287
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_000044.6(AR):c.2180G>T (p.Arg727Leu) rs137852593 0.00141
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_016218.6(POLK):c.85G>A (p.Glu29Lys) rs148960463 0.00137
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086 0.00064
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_021133.4(RNASEL):c.3G>A (p.Met1Ile) rs74315365 0.00021
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met) rs149561185 0.00020
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000044.6(AR):c.1644G>T (p.Leu548Phe) rs139524801 0.00018
NM_000044.6(AR):c.208C>T (p.Gln70Ter) rs1281274698 0.00017
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000044.6(AR):c.1195T>C (p.Trp399Arg) rs774645775 0.00010
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_000059.4(BRCA2):c.3922G>T (p.Glu1308Ter) rs80358638 0.00006
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00006
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701 0.00006
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000044.6(AR):c.1208C>T (p.Ala403Val) rs772490323 0.00003
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter) rs587781269 0.00003
NM_000044.6(AR):c.1651G>C (p.Asp551His) rs777461721 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200 0.00002
NM_003921.5(BCL10):c.488C>T (p.Thr163Met) rs370432633 0.00002
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781 0.00002
NM_000044.6(AR):c.1175C>G (p.Pro392Arg) rs773996740 0.00001
NM_000044.6(AR):c.2184C>G (p.Asn728Lys) rs768869912 0.00001
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 0.00001
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.3450dup (p.Ile1151fs) rs397507668 0.00001
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter) rs80358620 0.00001
NM_000059.4(BRCA2):c.4472_4475del (p.Leu1491fs) rs80359452 0.00001
NM_000059.4(BRCA2):c.4552del (p.Glu1518fs) rs398122783 0.00001
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs) rs80359541 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs) rs80359705 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000142.5(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105 0.00001
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) rs121909224 0.00001
NM_000314.8(PTEN):c.517C>T (p.Arg173Cys) rs121913293 0.00001
NM_000546.6(TP53):c.375G>A (p.Thr125=) rs55863639 0.00001
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter) rs587780784 0.00001
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter) rs756250205 0.00001
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter) rs730881701 0.00001
NM_007194.4(CHEK2):c.592+3A>T rs587782849 0.00001
NM_016218.6(POLK):c.1284G>A (p.Ala428=) rs770984846 0.00001
NM_018127.6(ELAC2):c.1641dup (p.His548Alafs) rs387906327 0.00001
NM_000044.6(AR):c.154_220del (p.Ala52fs)
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup) rs752055010
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs) rs1555116381
NM_000051.4(ATM):c.6820dup (p.Ala2274fs)
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1366G>T (p.Glu456Ter) rs778142232
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.1689G>A (p.Trp563Ter) rs80358456
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1762delinsTTT (p.Asn588fs)
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1909+1G>A rs587781629
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2150del (p.Cys717fs) rs397507618
NM_000059.4(BRCA2):c.2214T>A (p.Cys738Ter) rs398122742
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.4(BRCA2):c.2259del (p.Gln754fs) rs397507621
NM_000059.4(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.4(BRCA2):c.2905C>T (p.Gln969Ter) rs886038080
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.3109C>T (p.Gln1037Ter) rs80358557
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs) rs80359371
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3195_3198del (p.Asn1066fs) rs80359375
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter) rs886040486
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.4022C>G (p.Ser1341Ter)
NM_000059.4(BRCA2):c.4127_4130del (p.Gly1376fs) rs397507323
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4243G>T (p.Glu1415Ter) rs397507327
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.4(BRCA2):c.4464_4465del (p.His1488fs) rs397507720
NM_000059.4(BRCA2):c.470_474del (p.Lys157fs) rs80359463
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs) rs2137510225
NM_000059.4(BRCA2):c.4914dup (p.Val1639fs) rs786203494
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs) rs80359479
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.4(BRCA2):c.5217_5224del rs80359497
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5290_5291del (p.Ser1764fs) rs80359503
NM_000059.4(BRCA2):c.5344C>T (p.Gln1782Ter) rs80358757
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5482_5486del (p.Lys1828fs) rs80359516
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.574_575del (p.Met192fs) rs80359533
NM_000059.4(BRCA2):c.5789del (p.Leu1930fs) rs397507806
NM_000059.4(BRCA2):c.5791C>T (p.Gln1931Ter) rs80358807
NM_000059.4(BRCA2):c.5799_5802del (p.Asn1933fs) rs80359538
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5823del (p.Val1942fs) rs80359540
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter) rs80358828
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.610dup (p.Leu204fs) rs80359560
NM_000059.4(BRCA2):c.613_614del (p.Ser205fs) rs1566219362
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.643del (p.Glu215fs) rs2137458206
NM_000059.4(BRCA2):c.6446_6450del (p.Ile2149fs) rs80359593
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6566dup (p.Asn2189fs) rs397507373
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6600_6601del (p.Phe2200_Ser2201insTer) rs80359607
NM_000059.4(BRCA2):c.6611del (p.Pro2204fs) rs1135401915
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6744dup (p.Ala2249fs)
NM_000059.4(BRCA2):c.6816_6820del (p.Gly2274fs) rs587781803
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.729_732del (p.Asn243fs) rs80359645
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs) rs397507915
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7618-1G>A rs397507389
NM_000059.4(BRCA2):c.778_779del (p.Glu260fs) rs80359677
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.4(BRCA2):c.8023A>G (p.Ile2675Val) rs397507954
NM_000059.4(BRCA2):c.8168A>G (p.Asp2723Gly) rs41293513
NM_000059.4(BRCA2):c.8174_8185delinsTT (p.Trp2725fs) rs730881615
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8332-1G>A rs397507979
NM_000059.4(BRCA2):c.8332-1G>C rs397507979
NM_000059.4(BRCA2):c.8394_8396delinsAA (p.Arg2799fs) rs276174907
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8528del (p.Asn2843fs) rs397507989
NM_000059.4(BRCA2):c.8579del (p.Lys2860fs) rs80359719
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8755-1G>C rs81002812
NM_000059.4(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.4(BRCA2):c.9252_9255delinsTT (p.Lys3084fs) rs276174918
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.92G>A (p.Trp31Ter) rs397508045
NM_000059.4(BRCA2):c.9403del rs80359760
NM_000059.4(BRCA2):c.9435_9436del (p.Ser3147fs) rs80359763
NM_000142.5(FGFR3):c.1108G>T (p.Gly370Cys) rs121913479
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg) rs28931614
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys) rs28933068
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.1949A>T (p.Lys650Met) rs121913105
NM_000142.5(FGFR3):c.1950G>C (p.Lys650Asn) rs28928868
NM_000142.5(FGFR3):c.2419T>A (p.Ter807Arg) rs121913101
NM_000142.5(FGFR3):c.2420G>T (p.Ter807Leu) rs397515514
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg) rs4647924
NM_000222.3(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter) rs1060500116
NM_000314.8(PTEN):c.209+1G>A rs1554897280
NM_000314.8(PTEN):c.253+2T>A rs1224040268
NM_000314.8(PTEN):c.302T>C (p.Ile101Thr) rs1339631701
NM_000314.8(PTEN):c.404T>A (p.Ile135Lys) rs370795352
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter) rs587782187
NM_000314.8(PTEN):c.634+2T>C rs727504114
NM_000314.8(PTEN):c.634+5G>A rs138336847
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter) rs1554825165
NM_000314.8(PTEN):c.741dup (p.Pro248fs) rs587782341
NM_000314.8(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000455.5(STK11):c.388dup (p.Glu130fs)
NM_000455.5(STK11):c.488G>A (p.Gly163Asp) rs137853078
NM_000455.5(STK11):c.812del (p.Ser271fs) rs2145427067
NM_003921.5(BCL10):c.172C>G (p.Arg58Gly) rs121918314
NM_003921.5(BCL10):c.172C>T (p.Arg58Ter) rs121918314
NM_003921.5(BCL10):c.499dup (p.Ser167fs) rs387906350
NM_004360.5(CDH1):c.1147C>T (p.Gln383Ter) rs587782798
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs) rs886039612
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer) rs587781276
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter) rs876658932
NM_004360.5(CDH1):c.382del (p.His128fs) rs1555514492
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter) rs587781705
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter) rs200917541
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.591del (p.Val198fs) rs587782245
NM_007194.4(CHEK2):c.593-1G>T rs786203229
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter) rs121908702
NM_007194.4(CHEK2):c.902del (p.Leu301fs) rs748005072
NM_007294.4(BRCA1):c.4339C>T (p.Gln1447Ter) rs80357067
NM_016218.6(POLK):c.*66T>C rs786205688
NM_016218.6(POLK):c.1256A>G (p.Glu419Gly) rs111584802
NM_016218.6(POLK):c.1289A>G (p.Glu430Gly) rs1554062741
NM_016218.6(POLK):c.1324C>T (p.Leu442Phe) rs1554062789
NM_016218.6(POLK):c.1341G>A (p.Gln447=) rs1554062804
NM_016218.6(POLK):c.1345G>A (p.Glu449Lys) rs1304454699
NM_016218.6(POLK):c.1381A>G (p.Lys461Glu) rs1554063600
NM_016218.6(POLK):c.1460T>C (p.Ile487Thr) rs1554063656
NM_016218.6(POLK):c.1582A>T (p.Ser528Cys) rs139591993
NM_016218.6(POLK):c.1652A>T (p.Asp551Val) rs1554064175
NM_016218.6(POLK):c.1692G>A (p.Lys564=) rs781194178
NM_016218.6(POLK):c.1741G>A (p.Asp581Asn) rs863225457
NM_016218.6(POLK):c.2033C>T (p.Ser678Phe) rs863225455
NM_016218.6(POLK):c.2192T>A (p.Leu731His) rs863225456
NM_016218.6(POLK):c.2598T>G (p.Asp866Glu) rs1554064740
NM_016218.6(POLK):c.410C>T (p.Ser137Phe) rs863225454
NM_016218.6(POLK):c.461G>A (p.Gly154Glu) rs749804502
NM_016218.6(POLK):c.464T>C (p.Phe155Ser) rs1554059550
NM_016218.6(POLK):c.512T>C (p.Phe171Ser) rs1554059573
NM_017449.5(EPHB2):c.2164C>T (p.Gln722Ter) rs121912582
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter) rs766731755
NM_018127.7(ELAC2):c.460T>C (p.Phe154Leu) rs397515465
NM_130439.3(MXI1):c.552+2T>C rs387906417
NM_130439.3(MXI1):c.623del (p.Lys208fs)
NM_130439.3(MXI1):c.656A>C (p.Glu219Ala) rs137852603

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