ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" and "benign"

Submission 1 (likely pathogenic) minimum review status: Submission 1 (likely pathogenic) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
ClinVar version:

Total variants with conflicting interpretations: 265

HGVS dbSNP
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
NC_012920.1:m.15314G>A rs527236176
NC_012920.1:m.15323G>A rs527236177
NC_012920.1:m.15431G>A rs193302993
NC_012920.1:m.15452C>A rs193302994
NC_012920.1:m.15458T>C rs527236185
NC_012920.1:m.15470T>C rs527236187
NC_012920.1:m.15758A>G rs527236193
NC_012920.1:m.15884G>A rs527236195
NC_012920.1:m.15927G>A rs193303002
NC_012920.1:m.15928G>A rs527236198
NC_012920.1:m.15943T>C rs527236200
NC_012920.1:m.8950G>A rs1556423574
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000041.4(APOE):c.487C>T (p.Arg163Cys) rs769455
NM_000047.2(ARSL):c.1189G>A (p.Gly397Arg) rs201424543
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=) rs372979339
NM_000053.4(ATP7B):c.3188C>T (p.Ala1063Val) rs587783309
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000086.2(CLN3):c.790+3A>C rs386833738
NM_000092.4(COL4A4):c.3979G>A (p.Val1327Met) rs2229813
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673
NM_000138.4(FBN1):c.7499G>A (p.Cys2500Tyr) rs794728160
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.1014C>G (p.Gly338=) rs111033811
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000159.4(GCDH):c.*165A>G rs8012
NM_000159.4(GCDH):c.*288G>T rs9384
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) rs137852783
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128
NM_000243.2(MEFV):c.1105C>T (p.Pro369Ser) rs11466023
NM_000243.2(MEFV):c.1223G>A (p.Arg408Gln) rs11466024
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000275.3(OCA2):c.593C>T (p.Pro198Leu) rs183487020
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000350.3(ABCA4):c.1654G>A (p.Val552Ile) rs145525174
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030
NM_000350.3(ABCA4):c.2828G>A (p.Arg943Gln) rs1801581
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5908C>T (p.Leu1970Phe) rs28938473
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg) rs61748536
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000369.2(TSHR):c.394G>C (p.Gly132Arg) rs760874290
NM_000369.3(TSHR):c.202C>T rs142063461
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000384.3(APOB):c.11477C>T (p.Thr3826Met) rs61744153
NM_000384.3(APOB):c.2188G>A (p.Val730Ile) rs12691202
NM_000391.4(TPP1):c.381-10dup rs146315473
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861
NM_000432.3(MYL2):c.37G>A (p.Ala13Thr) rs104894363
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000440.3(PDE6A):c.908C>G (p.Ser303Cys) rs61733363
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000507.4(FBP1):c.730C>T (p.Arg244Trp) rs200679026
NM_000521.4(HEXB):c.445+1G>C rs761197472
NM_000527.4(LDLR):c.1085A>C (p.Asp362Ala) rs138315511
NM_000527.4(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1194C>T (p.Ile398=) rs13306498
NM_000527.4(LDLR):c.1221C>T (p.His407=) rs778424518
NM_000527.4(LDLR):c.1412G>A (p.Arg471Lys) rs1131692207
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1966C>A (p.His656Asn) rs762815611
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.313+2T>C rs793888517
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000552.4(VWF):c.4196G>A (p.Arg1399His) rs1800382
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_001009894.3(C12orf29):c.*807_*808CT[1] rs569673313
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099
NM_001010848.4(NRG3):c.1951G>A (p.Glu651Lys) rs138878772
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001065.3(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001072.4(UGT1A6):c.1088C>T (p.Pro363Leu) rs34946978
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) rs77587352
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001083602.2(PTCH1):c.3749A>G (p.Tyr1250Cys) rs147067171
NM_001110556.2(FLNA):c.4232C>T (p.Ser1411Leu) rs782426283
NM_001111125.3(IQSEC2):c.3364C>T (p.Arg1122Cys) rs782697291
NM_001123383.1(BCOR):c.2035G>A (p.Val679Ile) rs144722432
NM_001126112.2(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile) rs77358650
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr) rs144499152
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001164277.1(SLC37A4):c.497G>A (p.Arg166His) rs186476316
NM_001165927.1(MKS1):c.1358G>A (p.Arg453Gln) rs201619500
NM_001168272.1(ITPR1):c.3849C>T (p.Asn1283=) rs182840163
NM_001168338.1(PLG):c.112A>G (p.Lys38Glu) rs73015965
NM_001171.5(ABCC6):c.3190C>T (p.Arg1064Trp) rs41278174
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001193304.3(TMEM127):c.268G>A (p.Val90Met) rs121908823
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001256047.1(C19orf12):c.391A>G (p.Lys131Glu) rs146170087
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232
NM_001492.6(GDF1):c.1091T>C (p.Met364Thr) rs374016704
NM_001849.3(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380
NM_002052.5(GATA4):c.1129A>G (p.Ser377Gly) rs3729856
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291
NM_002386.3(MC1R):c.247T>C (p.Ser83Pro) rs34474212
NM_002386.3(MC1R):c.252C>A (p.Asp84Glu) rs1805006
NM_002386.3(MC1R):c.515G>T (p.Ser172Ile) rs376670171
NM_002386.3(MC1R):c.880G>C (p.Asp294His) rs1805009
NM_003052.5(SLC34A1):c.272_292del (p.Val91_Ala97del) rs876661296
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194
NM_003126.4(SPTA1):c.5572C>G (p.Leu1858Val) rs3737515
NM_003126.4(SPTA1):c.6531-12C>T rs28525570
NM_003126.4(SPTA1):c.6549-12G>A rs857716
NM_003126.4(SPTA1):c.6672A>C (p.Glu2224Asp) rs142775522
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451
NM_003482.3(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483
NM_003803.3(MYOM1):c.1900+3A>C rs77613865
NM_003900.5(SQSTM1):c.1175C>T (p.Pro392Leu) rs104893941
NM_004004.6(GJB2):c.101T>C (p.Met34Thr) rs35887622
NM_004006.2(DMD):c.4115C>T (p.Ala1372Val) rs759108067
NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) rs199529046
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589
NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) rs387906816
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689
NM_005634.2(SOX3):c.157G>C (p.Val53Leu) rs200361128
NM_005726.6(TSFM):c.856C>T (p.Gln286Ter) rs201754030
NM_005781.4(TNK2):c.2630G>A (p.Arg877His) rs112384084
NM_006080.3(SEMA3A):c.2150C>T (p.Thr717Ile) rs138952094
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993
NM_006214.4(PHYH):c.734G>A (p.Arg245Gln) rs62619919
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672
NM_006269.2(RP1):c.616-6T>C rs186571865
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006514.3(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729
NM_006563.4(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_006920.6(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817
NM_006950.3(SYN1):c.1297C>T (p.His433Tyr) rs41298474
NM_007299.4(BRCA1):c.787+1809C>T rs41286300
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp) rs202213517
NM_012224.3(NEK1):c.2151T>G (p.Asn717Lys) rs34324114
NM_012224.3(NEK1):c.782G>A (p.Arg261His) rs200161705
NM_013444.3(UBQLN2):c.1573C>T (p.Pro525Ser) rs369947678
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile) rs75442795
NM_016579.4(CD320):c.256_258GAG[2] (p.Glu88del) rs150384171
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_017534.6(MYH2):c.4774C>A (p.Leu1592Met) rs138393827
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) rs146664036
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737
NM_017849.3(TMEM127):c.208G>A (p.Asp70Asn) rs121908819
NM_017890.4(VPS13B):c.9406-2A>T rs74485751
NM_018328.4(MBD5):c.3143C>T (p.Thr1048Ile) rs145475623
NM_018849.3(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_019098.4(CNGB3):c.1208G>A rs147876778
NM_019098.4(CNGB3):c.1405T>G (p.Tyr469Asp) rs35365413
NM_020223.4(FAM20C):c.1228T>A (p.Ser410Thr) rs148276213
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148fs) rs527847958
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_021939.3(FKBP10):c.917+53G>T rs141387386
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_022041.3(GAN):c.1684C>G (p.Pro562Ala) rs79901179
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022124.6(CDH23):c.429+4G>A rs397517328
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022893.4(BCL11A):c.386-24278G>A rs11886868
NM_023073.3(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487
NM_024422.6(DSC2):c.2365_2367GGA[1] (p.Gly790del) rs377272752
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln) rs75398746
NM_025000.4(DCAF17):c.322-14C>T rs192861143
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555
NM_025243.4(SLC19A3):c.1252C>G (p.Gln418Glu) rs368364131
NM_030943.3(AMN):c.1170-6C>T rs386834164
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344
NM_032578.3(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033056.4(PCDH15):c.4308_4310GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_152384.3(BBS5):c.551A>G (p.Asn184Ser) rs137853921
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152778.3(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963
NM_172201.1(KCNE2):c.161T>C (p.Met54Thr) rs74315447
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His) rs76064926
NM_173551.5(ANKS6):c.1322A>G (p.Gln441Arg) rs377750405
NM_174936.3(PCSK9):c.385G>A (p.Asp129Asn) rs778738291
NM_178012.5(TUBB2B):c.743C>T (p.Ala248Val) rs777598117
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543
NM_181798.1(KCNQ1):c.808C>T (p.Arg270Trp) rs199472776
NM_181840.1(KCNK18):c.361dup (p.Tyr121fs) rs541915908
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_198253.2(TERT):c.3150G>C (p.Lys1050Asn) rs373400596
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.3(USH2A):c.15433G>A (p.Val5145Ile) rs111033269
NM_206933.3(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282
NM_206933.3(USH2A):c.7334C>T (p.Ser2445Phe) rs41315579
NM_207034.3(EDN3):c.565dup (p.Thr189fs) rs11570344
Single allele
UGT1A1*6 rs4148323
m.14766C>T rs193302980
m.15287T>C rs527236044
m.15326A>G rs2853508

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.