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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
LOC116268435, LOC116268436, LOC116268437, LOC116268438, LOC116268439, LOC116268440, LOC116268441, LOC116268442, LOC116268443, LOC116268444, LOC116268445, LOC116268446, LOC116268447, LOC116268448, LOC116268449, LOC116268450, LOC116268451, LOC116268452, LOC116268453, LOC117038775, LOC117038776, LOC117038778, LOC117038779, LOC117038780, LOC117038781, LOC117038782, LOC120766155, LOC120807612, LOC121392955, LOC121392956, LOC121403743, LOC121403744, LOC121466689, LOC121466690, LOC121466691, LOC121466692, LOC121466693, LOC121466694, LOC121466695, LOC121466696, LOC121466697, LOC121466698, LOC121466699, LOC121466700, LOC121466701, LOC121466702, LOC121466703, LOC121466704, LOC121466705, LOC121466706, LOC121466707, LOC121466708, LOC121466709, LOC121466710, LOC121466711, LOC121466712, LOC121466713, LOC121466714, LOC121466715, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121832825, LOC121832826, LOC121832827, LOC121832828, LOC121832829, LOC121832830, LOC121832831, LOC121832832, LOC121832833, LOC121832834, LOC121832835, LOC121832836, LOC121832837, LOC121832838, LOC121832839, LOC121832840, LOC121832841, LOC121832842, LOC121832843, LOC121838556, LOC121838557, LOC121838558, LOC121838559, LOC121838560, LOC121838561, LOC121838562, LOC121838563, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, LOC122455340, LOC283335, LOC283387, LOC414300, LOC440084, LOC574538, LOC642846, LOC643339, LOC645177, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRCOL1, LRIG3, LRIG3-DT, LRP1, LRP1-AS, LRP6, LRRC10, LRRC23, LRRC43, LRRIQ1, LRRK2, LRTM2, LTA4H, LTBR, LUM, LYZ, M6PR, MAGOHB, MANSC1, MANSC4, MAP1LC3B2, MAP3K12, MAPKAPK5, MAPKAPK5-AS1, MARCHF9, MARS1, MBD6, MCRS1, MDM1, MDM2, MED13L, MED21, METAP2, METTL1, METTL25, METTL7A, METTL7B, MFAP5, MFSD5, MGAT4C, MGP, MGST1, MIP, MIR10527, MIR1178, MIR1228, MIR1244-3, MIR1244-4, MIR1251, MIR1252, MIR1279, MIR1291, MIR1293, MIR1302-1, MIR135A2, MIR141, MIR148B, MIR1827, MIR196A2, MIR200C, MIR200CHG, MIR26A2, MIR3059, MIR3198-2, MIR331, MIR3612, MIR3649, MIR3652, MIR3657, MIR3685, MIR3908, MIR3913-1, MIR3913-2, MIR3922, MIR3974, MIR4302, MIR4303, MIR4304, MIR4419B, MIR4472-2, MIR4494, MIR4495, MIR4496, MIR4497, MIR4498, MIR4698, MIR4699, MIR4700, MIR4701, MIR492, MIR5188, MIR548C, MIR548Z, MIR5700, MIR6074, MIR6125, MIR613, MIR614, MIR615, MIR616, MIR617, MIR618, MIR619, MIR620, MIR6502, MIR6505, MIR6757, MIR6758, MIR6759, MIR6760, MIR6761, MIR6762, MIR6763, MIR6861, MIR6880, MIR7106, MIR7107, MIR7844, MIR7851, MIR8072, MIR920, MIR9898, MIR9902-1, MIR9902-2, MIRLET7I, MLEC, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MRPL42, MRPL51, MRPS35, MSI1, MSRB3, MTERF2, MTRFR, MUC19, MUC8, MUCL1, MVK, MYBPC1, MYF5, MYF6, MYG1, MYL2, MYL6, MYL6B, MYO1A, MYO1H, MYRFL, NAA25, NAB2, NABP2, NACA, NANOG, NANOGNB, NAP1L1, NAV3, NCAPD2, NCKAP1L, NCKAP5L, NCOR2, NDUFA12, NDUFA4L2, NDUFA9, NECAP1, NEDD1, NELL2, NEMP1, NEUROD4, NFE2, NFYB, NINJ2, NINJ2-AS1, NOC4L, NOP2, NOPCHAP1, NOS1, NPFF, NR1H4, NR2C1, NR4A1, NR4A1AS, NRAV, NRIP2, NT5DC3, NTF3, NTN4, NTS, NUAK1, NUDT4, NUP107, NUP37, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OLR1, OR10A7, OR10AD1, OR10P1, OR2AP1, OR5BS1P, OR6C1, OR6C2, OR6C3, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C75, OR6C76, OR8S1, OR9K2, ORAI1, ORI6, ORMDL2, OS9, OSBPL8, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, P3H3, PA2G4, PAH, PAN2, PARP11, PARP11-AS1, PARPBP, PAWR, PCBP2, PCBP2-OT1, PCED1B, PCED1B-AS1, PDE1B, PDE3A, PDE6H, PDZRN4, PEBP1, PEX5, PFDN5, PFKM, PGAM5, PHB2, PHC1, PHETA1, PHLDA1, PIANP, PIK3C2G, PIP4K2C, PITPNM2, PITPNM2-AS1, PIWIL1, PKP2, PLA2G1B, PLBD1, PLBD1-AS1, PLBD2, PLCZ1, PLEKHA5, PLEKHG6, PLEKHG7, PLXNC1, PMCH, PMEL, POC1B, POC1B-AS1, POC1B-GALNT4, POLE, POLR3B, POP5, POU6F1, PPFIA2, PPFIA2-AS1, PPFIBP1, PPHLN1, PPM1H, PPP1CC, PPP1R12A, PPP1R12A-AS1, PPP1R12A-AS2, PPP1R1A, PPTC7, PRANCR, PRB1, PRB2, PRB3, PRB4, PRDM4, PRH1, PRH1-PRR4, PRH1-TAS2R14, PRH2, PRICKLE1, PRIM1, PRKAB1, PRKAG1, PRMT8, PRPF40B, PRPH, PRR13, PRR4, PSMD9, PTGES3, PTHLH, PTMS, PTPN11, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PUS7L, PWP1, PXMP2, PXN, PXN-AS1, PYM1, PYROXD1, PZP, R3HDM2, RAB21, RAB35, RAB3IP, RAB5B, RACGAP1, RAD51AP1, RAD52, RAD9B, RAN, RAP1B, RAPGEF3, RARG, RASAL1, RASSF3, RASSF3-DT, RASSF8, RASSF8-AS1, RASSF9, RBM19, RBMS2, RBP5, RDH16, RDH5, RECQL, REP15, RERG, RERG-AS1, RERGL, RESF1, RFC5, RFLNA, RFX4, RHEBL1, RHNO1, RHOF, RIC8B, RILPL1, RILPL2, RIMBP2, RIMKLB, RITA1, RMST, RND1, RNF10, RNF34, RNF41, RNFT2, RNU4-1, RNU4-2, RNU7-1, RPAP3, RPAP3-DT, RPH3A, RPL41, RPL6, RPLP0, SBNO1, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1-AS1, SCAF11, SCARB1, SCARNA10, SCARNA11, SCARNA12, SCAT2, SCN8A, SCNN1A, SCYL2, SDR9C7, SDS, SDSL, SELPLG, SENP1, SETD1B, SFSWAP, SH2B3, SHMT2, SINHCAF, SIRT4, SLC11A2, SLC15A4, SLC15A5, SLC16A7, SLC17A8, SLC25A3, SLC2A13, SLC2A14, SLC2A3, SLC35E3, SLC38A1, SLC38A2, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GAPDH, GARIN6, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GIT2, GLI1, GLIPR1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GOLT1B, GPD1, GPN3, GPR162, GPR182, GPR19, GPR84, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, GXYLT1, GYS2, H1-7, H2AJ, H3-5, H4-16, HAL, HCAR1, HCAR2, HCAR3, HCFC2, HDAC7, HEBP1, HECTD4, HELB, HIGD1C, HIP1R, HMGA2, HMGA2-AS1, HNF1A, HNF1A-AS1, HNRNPA1, HOTAIR, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC10, HOXC11, HOXC12, HOXC13, HOXC13-AS, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, HPD, HRK, HSD17B6, HSP90B1, HSPB8, HVCN1, IAPP, IFFO1, IFNG, IFNG-AS1, IFT81, IGF1, IGFBP6, IKBIP, IKZF4, IL22, IL23A, IL26, IL31, ING4, INHBC, INHBE, INTS13, IPO8, IQCD, IQSEC3, IRAG2, IRAK3, IRAK4, ISCU, ITFG2, ITFG2-AS1, ITGA5, ITGA7, ITGB7, ITPR2, KANSL2, KCNA1, KCNA5, KCNA6, KCNC2, KCNH3, KCNJ8, KCNMB4, KCTD10, KDM2B, KDM2B-DT, KDM5A, KERA, KICS2, KIF21A, KIF5A, KITLG, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRC4-KLRK1, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KLRK1-AS1, KMT2D, KMT5A, KNTC1, KRAS, KRR1, KRT1, KRT18, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT7-AS, KRT71, KRT72, KRT73, KRT73-AS1, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT85, KRT86, KSR2, LACRT, LAG3, LALBA, LARP4, LDHB, LEMD3, LETMD1, LGR5, LHX5, LHX5-AS1, LIMA1, LIN7A, LINC00173, LINC00477, LINC00485, LINC00507, LINC00508, LINC00592, LINC00612, LINC00615, LINC00934, LINC00937, LINC00938, LINC00939, LINC00940, LINC00941, LINC00942, LINC00943, LINC00944, LINC00987, LINC01089, LINC01234, LINC01252, LINC01257, LINC01405, LINC01465, LINC01479, LINC01486, LINC01489, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02231, LINC02258, LINC02347, LINC02350, LINC02356, LINC02359, LINC02361, LINC02366, LINC02367, LINC02368, LINC02369, LINC02370, LINC02372, LINC02373, LINC02375, LINC02376, LINC02378, LINC02381, LINC02384, LINC02385, LINC02386, LINC02387, LINC02388, LINC02389, LINC02392, LINC02393, LINC02394, LINC02395, LINC02396, LINC02397, LINC02398, LINC02399, LINC02400, LINC02401, LINC02402, LINC02403, LINC02404, LINC02405, LINC02406, LINC02408, LINC02409, LINC02410, LINC02411, LINC02412, LINC02413, LINC02414, LINC02415, LINC02417, LINC02418, LINC02419, LINC02420, LINC02421, LINC02422, LINC02423, LINC02424, LINC02425, LINC02426, LINC02439, LINC02440, LINC02441, LINC02442, LINC02443, LINC02444, LINC02445, LINC02446, LINC02448, LINC02449, LINC02450, LINC02451, LINC02453, LINC02454, LINC02455, LINC02458, LINC02459, LINC02460, LINC02461, LINC02464, LINC02468, LINC02470, LINC02471, LINC02555, LINC02598, LINC02617, LINC02820, LINC02823, LINC02824, LINC02825, LINC02826, LINC02827, LINC02874, LINC02882, LINC02909, LLPH, LLPH-DT, LMBR1L, LMNTD1, LMO3, LNCOG, LOC100128253, LOC100128276, LOC100130238, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100288798, LOC100505978, LOC100506551, LOC100506606, LOC100506691, LOC100506869, LOC100507065, LOC100507250, LOC100507424, LOC100652999, LOC100996671, LOC101593348, LOC101927583, LOC101928002, LOC101928030, LOC101928416, LOC101928441, LOC101928731, LOC101928937, LOC101929058, LOC101929162, LOC102723544, LOC102724020, LOC102724050, LOC102724421, LOC105369187, LOC105369595, LOC105369632, LOC105369728, LOC105369747, LOC105369781, LOC105369879, LOC105369911, LOC105369945, LOC105369980, LOC105370024, LOC105370068, LOC106007490, LOC106007491, LOC106096416, LOC106783497, LOC106799839, LOC107105350, LOC107436002, LOC107832852, LOC107832854, LOC107984507, LOC108178986, LOC108178987, LOC108228199, LOC108251798, LOC108254668, LOC108281141, LOC108281176, LOC108281184, LOC108720144, LOC108720145, LOC108942766, LOC109280163, LOC109280164, LOC109280165, LOC109286556, LOC109461484, LOC110120854, LOC110120878, LOC110120899, LOC110120906, LOC110120907, LOC110120908, LOC110120918, LOC110120934, LOC110120948, LOC110120954, LOC110120955, LOC110120956, LOC110120957, LOC110121322, LOC110121323, LOC110121349, LOC110121363, LOC110121374, LOC110121381, LOC110121389, LOC110121401, LOC110121402, LOC110121403, LOC110121408, LOC110121425, LOC110121435, LOC110121456, LOC110121480, LOC110121489, LOC110599568, LOC111258525, LOC111258526, LOC111365152, LOC111365179, LOC111365214, LOC111413045, LOC111429608, LOC111429617, LOC111465008, LOC111501774, LOC111501779, LOC111556143, LOC111556155, LOC111776216, LOC112136100, LOC112136101, LOC112136102, LOC112136103, LOC112136104, LOC112136105, LOC112136106, LOC112136107, LOC112136108, LOC112136111, LOC112136112, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163543, LOC112163544, LOC112163545, LOC112163546, LOC112163547, LOC112163548, LOC112163549, LOC112163550, LOC112163551, LOC112163552, LOC112163594, LOC112163595, LOC112163596, LOC112163597, LOC112163598, LOC112163600, LOC112163601, LOC112163602, LOC112163604, LOC112163605, LOC112163606, LOC112163607, LOC112163608, LOC112163609, LOC112163612, LOC112163613, LOC112163615, LOC112163617, LOC112163618, LOC112163619, LOC112163620, LOC112163621, LOC112163622, LOC112163623, LOC112163625, LOC112163626, LOC112163628, LOC112163629, LOC112163630, LOC112163631, LOC112163632, LOC112163633, LOC112163634, LOC112163635, LOC112163636, LOC113939930, LOC113939931, LOC113939932, LOC113939933, LOC113939934, LOC113939935, LOC113939936, LOC113939937, LOC114803470, LOC114803471, LOC114827850, LOC114827856, LOC114827860, LOC114827865, LOC116268425, LOC116268426, LOC116268427, LOC116268428, LOC116268429, LOC116268430, LOC116268431, LOC116268432, LOC116268433, LOC116268434, A2M, A2M-AS1, A2ML1, AAAS, AACS, ABCB9, ABCC9, ABCD2, ACACB, ACAD10, ACADS, ACRBP, ACSM4, ACSS3, ACTR6, ACVR1B, ACVRL1, ADAMTS20, ADCY6, ADCY6-DT, ADGRD1, ADGRD1-AS1, ADIPOR2, AEBP2, AGAP2, AGAP2-AS1, AICDA, AKAP3, ALDH1L2, ALDH2, ALG10, ALG10B, ALKBH2, ALX1, AMDHD1, AMHR2, AMIGO2, AMN1, ANAPC5, ANAPC7, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, ANO6, ANP32D, APAF1, APOBEC1, APOF, APOLD1, APPL2, AQP2, AQP5, AQP5-AS1, AQP6, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARID2, ARL1, ARL6IP4, ARNTL2, ARNTL2-AS1, ARPC3, ART4, ASB8, ASCL1, ASCL4, ASIC1, ATF1, ATF7, ATF7-NPFF, ATF7IP, ATG101, ATN1, ATP23, ATP2A2, ATP2B1, ATP2B1-AS1, ATP5F1B, ATP5MC2, ATP6V0A2, ATXN2, ATXN2-AS, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT1, B4GALNT3, BAZ2A, BBS10, BCAT1, BCDIN3D, BCDIN3D-AS1, BCL2L14, BCL7A, BEST3, BHLHE41, BICD1, BICDL1, BIN2, BLOC1S1, BLOC1S1-RDH5, BORCS5, BRAP, BRI3BP, BTBD11, BTG1, BTG1-DT, C12orf29, C12orf4, C12orf40, C12orf42, C12orf43, C12orf50, C12orf54, C12orf56, C12orf57, C12orf60, C12orf71, C12orf73, C12orf74, C12orf75, C12orf75-AS1, C12orf76, C1QL4, C1R, C1RL, C1RL-AS1, C1S, C2CD5, C3AR1, CABP1, CABP1-DT, CACNA1C, CACNA1C-AS1, CACNA1C-AS2, CACNA1C-AS4, CACNA1C-IT1, CACNA1C-IT2, CACNA1C-IT3, CACNA2D4, CACNB3, CALCOCO1, CAMKK2, CAND1, CAPRIN2, CAPS2, CAPZA3, CASC18, CBX5, CCDC184, CCDC38, CCDC59, CCDC60, CCDC62, CCDC63, CCDC65, CCDC77, CCDC91, CCDC92, CCER1, CCND2, CCND2-AS1, CCNT1, CCT2, CD163, CD163L1, CD27, CD27-AS1, CD4, CD63, CD63-AS1, CD69, CD9, CDCA3, CDK17, CDK2, CDK2AP1, CDK4, CDKN1B, CELA1, CEP290, CEP83, CEP83-DT, CERS5, CFAP251, CFAP54, CFAP73, CHD4, CHFR, CHFR-DT, CHPT1, CHST11, CISTR, CIT, CKAP4, CLEC12A, CLEC12A-AS1, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLIP1, CLIP1-AS1, CLLU1, CLLU1-AS1, CLSTN3, CMAS, CMKLR1, CNOT2, CNPY2, CNTN1, COL2A1, COPS7A, COPZ1, COQ10A, COQ5, CORO1C, COX14, COX6A1, CPM, CPNE8, CPSF6, CRACR2A, CRADD, CREBL2, CRY1, CS, CSAD, CSRNP2, CSRP2, CTDSP2, CUX2, CYP27B1, DAO, DAZAP2, DBX2, DCD, DCN, DCP1B, DCTN2, DDIT3, DDN, DDN-AS1, DDX11, DDX11-AS1, DDX23, DDX47, DDX51, DDX54, DDX55, DENND5B, DENND5B-AS1, DENR, DEPDC4, DERA, DGKA, DHH, DHX37, DIABLO, DIP2B, DNAH10, DNAI7, DNAJC14, DNAJC22, DNM1L, DPPA3, DPY19L2, DRAM1, DTX1, DTX3, DUSP16, DUSP6, DYNLL1, DYRK2, DYRK4, E2F7, EEA1, EEF1AKMT3, EID3, EIF2B1, EIF2S3B, EIF4B, ELK3, EMG1, EMP1, ENDOU, ENO2, EP400, EPS8, EPYC, ERBB3, ERC1, ERGIC2, ERP27, ERP29, ESPL1, ESYT1, ETFBKMT, ETFRF1, ETNK1, ETNK1-DT, ETV6, FAIM2, FAM186A, FAM186B, FAM216A, FAM222A, FAM222A-AS1, FAM234B, FAM242C, FAM66C, FAM90A1, FAR2, FBRSL1, FBXL14, FBXO21, FBXW8, FGD4, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, SLC38A2-AS1, SLC38A4, SLC39A5, SLC41A2, SLC48A1, SLC4A8, SLC5A8, SLC6A12, SLC6A12-AS1, SLC6A13, SLC6A15, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B3-SLCO1B7, SLCO1B7, SLCO1C1, SMAGP, SMARCC2, SMARCD1, SMCO2, SMCO3, SMIM10L1, SMIM41, SMUG1, SNORA105C, SNORA113, SNORA120, SNORA2A, SNORA2B, SNORA2C, SNORA49, SNORA53, SNORA70G, SNORA9B, SNORD133, SNORD59A, SNORD59B, SNRNP35, SNRPF, SNRPF-DT, SOAT2, SOCS2, SOCS2-AS1, SOX5, SOX5-AS1, SP1, SP7, SPATS2, SPIC, SPPL3, SPRING1, SPRYD3, SPRYD4, SPSB2, SPX, SRGAP1, SRRM4, SRSF9, SSH1, SSPN, ST8SIA1, STAB2, STAC3, STAT2, STAT6, STK38L, STRAP, STX2, STYK1, SUDS3, SUOX, SVOP, SYCP3, SYT1, SYT10, TAC3, TAFA2, TAMALIN, TAMALIN-AS1, TAOK3, TAPBPL, TARBP2, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TBC1D15, TBC1D30, TBK1, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCHP, TCP11L2, TCTN1, TCTN2, TDG, TEAD4, TESC, TESC-AS1, TESPA1, TEX49, TEX52, TFCP2, THAP2, THCAT155, THRIL, TIGAR, TIMELESS, TM7SF3, TMBIM4, TMBIM6, TMCC3, TMDD1, TMED2, TMED2-DT, TMEM106C, TMEM116, TMEM117, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM19, TMEM233, TMEM263, TMEM52B, TMPO, TMPO-AS1, TMPRSS12, TMTC1, TMTC2, TMTC3, TNFRSF1A, TNS2, TPCN1, TPH2, TPI1, TRA-TGC3-2, TRA-TGC4-1, TRAFD1, TRD-GTC1-1, TRD-GTC2-10, TRD-GTC2-8, TRD-GTC2-9, TRF-GAA1-4, TRHDE, TRHDE-AS1, TRIAP1, TROAP, TROAP-AS1, TRPV4, TRS-CGA4-1, TRW-CCA4-1, TSFM, TSPAN11, TSPAN19, TSPAN31, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE2N, UBE3B, UHRF1BP1L, ULK1, UNC119B, UNG, USP15, USP30, USP30-AS1, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VPS29, VPS33A, VPS37B, VSIG10, VWF, WASHC3, WASHC4, WBP11, WIF1, WNK1, WNT1, WNT10B, WNT5B, WSB2, WSCD2, XLOC_009911, XPOT, YAF2, YARS2, YBX3, YEATS4, ZBTB39, ZC3H10, ZCCHC8, ZCRB1, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF385A, ZNF605, ZNF641, ZNF664, ZNF664-RFLNA, ZNF705A, ZNF740, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150740
2.
GRCh37:
Chr12:50516142-53642244
GRCh38:
Chr12:50122359-53248460
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000153751
3.
GRCh37:
Chr12:51027671-53245693
GRCh38:
Chr12:50633888-52851909
See casesPathogenic
(Nov 26, 2012)
no assertion criteria providedVCV000152062
4.
GRCh37:
Chr12:53142175-53344402
GRCh38:
Chr12:52748391-52950618
KRT18, KRT3, KRT4, KRT76, KRT78, KRT79, KRT8, LOC106096416, MIR9898See casesLikely benign
(Sep 21, 2012)
no assertion criteria providedVCV000149659
5.
GRCh37:
Chr12:53200357
GRCh38:
Chr12:52806573
KRT4White sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881137
6.
GRCh37:
Chr12:53200448
GRCh38:
Chr12:52806664
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309658
7.
GRCh37:
Chr12:53200564
GRCh38:
Chr12:52806780
KRT4White sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000309659
8.
GRCh37:
Chr12:53200584
GRCh38:
Chr12:52806800
KRT4not provided, White sponge nevus 1Benign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000066516
9.
GRCh37:
Chr12:53200586
GRCh38:
Chr12:52806802
KRT4White sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309660
10.
GRCh37:
Chr12:53200720
GRCh38:
Chr12:52806936
KRT4White sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309661
11.
GRCh37:
Chr12:53200727
GRCh38:
Chr12:52806943
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309662
12.
GRCh37:
Chr12:53200772
GRCh38:
Chr12:52806988
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309663
13.
GRCh37:
Chr12:53200785
GRCh38:
Chr12:52807001
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309664
14.
GRCh37:
Chr12:53200823
GRCh38:
Chr12:52807039
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309665
15.
GRCh37:
Chr12:53200904
GRCh38:
Chr12:52807120
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309666
16.
GRCh37:
Chr12:53200921
GRCh38:
Chr12:52807137
KRT4G499RWhite sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309667
17.
GRCh37:
Chr12:53200923
GRCh38:
Chr12:52807139
KRT4F498SWhite sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309668
18.
GRCh37:
Chr12:53200949
GRCh38:
Chr12:52807165
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881603
19.
GRCh37:
Chr12:53200975
GRCh38:
Chr12:52807191
KRT4G481RWhite sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000882761
20.
GRCh37:
Chr12:53200997
GRCh38:
Chr12:52807213
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309669
21.
GRCh37:
Chr12:53200999
GRCh38:
Chr12:52807215
KRT4S473CWhite sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000882762
22.
GRCh37:
Chr12:53201030
GRCh38:
Chr12:52807246
KRT4White sponge nevus 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000882763
23.
GRCh37:
Chr12:53201128
GRCh38:
Chr12:52807344
KRT4White sponge nevus 1, not providedBenign
(May 12, 2021)
criteria provided, multiple submitters, no conflictsVCV000309670
24.
GRCh37:
Chr12:53201180
GRCh38:
Chr12:52807396
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000882764
25.
GRCh37:
Chr12:53201413
GRCh38:
Chr12:52807629
KRT4White sponge nevus 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000882765
26.
GRCh37:
Chr12:53201413
GRCh38:
Chr12:52807629
KRT4White sponge nevus 1, not providedBenign
(May 27, 2021)
criteria provided, multiple submitters, no conflictsVCV000309671
27.
GRCh37:
Chr12:53201456
GRCh38:
Chr12:52807672
KRT4R440Cnot provided, White sponge nevus 1Benign/Likely benign
(Sep 11, 2018)
criteria provided, multiple submitters, no conflictsVCV000778637
28.
GRCh37:
Chr12:53201471
GRCh38:
Chr12:52807687
KRT4E435KWhite sponge nevus 1Pathogenic
(Jun 1, 2003)
no assertion criteria providedVCV000016920
29.
GRCh37:
Chr12:53201515
GRCh38:
Chr12:52807731
KRT4R420HWhite sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309672
30.
GRCh37:
Chr12:53201516
GRCh38:
Chr12:52807732
KRT4R420CWhite sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000883553
31.
GRCh37:
Chr12:53201570
GRCh38:
Chr12:52807786
KRT4V402IWhite sponge nevus 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000883554
32.
GRCh37:
Chr12:53201571
GRCh38:
Chr12:52807787
KRT4White sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309673
33.
GRCh37:
Chr12:53201582
GRCh38:
Chr12:52807798
KRT4H398YWhite sponge nevus 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309674
34.
GRCh37:
Chr12:53201627
GRCh38:
Chr12:52807843
KRT4V383MWhite sponge nevus 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309675
35.
GRCh37:
Chr12:53201680
GRCh38:
Chr12:52807896
KRT4not providedBenign
(May 13, 2021)
criteria provided, single submitterVCV001246289
36.
GRCh37:
Chr12:53202123
GRCh38:
Chr12:52808339
KRT4White sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309676
37.
GRCh37:
Chr12:53202131
GRCh38:
Chr12:52808347
KRT4L358VWhite sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881185
38.
GRCh37:
Chr12:53202183
GRCh38:
Chr12:52808399
KRT4White sponge nevus 1, not providedBenign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000309677
39.
GRCh37:
Chr12:53202380
GRCh38:
Chr12:52808596
KRT4not providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001290336
40.
GRCh37:
Chr12:53202486
GRCh38:
Chr12:52808702
KRT4A328VWhite sponge nevus 1Benign
(Mar 14, 2018)
criteria provided, single submitterVCV000881186
41.
GRCh37:
Chr12:53202515
GRCh38:
Chr12:52808731
KRT4White sponge nevus 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000881187
42.
GRCh37:
Chr12:53202524
GRCh38:
Chr12:52808740
KRT4White sponge nevus 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309678
43.
GRCh37:
Chr12:53202596
GRCh38:
Chr12:52808812
KRT4White sponge nevus 1, not providedBenign/Likely benign
(Mar 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000309679
44.
GRCh37:
Chr12:53202599
GRCh38:
Chr12:52808815
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309680
45.
GRCh37:
Chr12:53202638
GRCh38:
Chr12:52808854
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309681
46.
GRCh37:
Chr12:53202859
GRCh38:
Chr12:52809075
KRT4not providedBenign
(Jun 21, 2021)
criteria provided, single submitterVCV001264187
47.
GRCh37:
Chr12:53203165
GRCh38:
Chr12:52809381
KRT4White sponge nevus 1Uncertain significance
(Oct 15, 2018)
criteria provided, single submitterVCV000631683
48.
GRCh37:
Chr12:53203200
GRCh38:
Chr12:52809416
KRT4D267Enot providedLikely benign
(Dec 7, 2019)
criteria provided, single submitterVCV001150080
49.
GRCh37:
Chr12:53203200
GRCh38:
Chr12:52809416
KRT4White sponge nevus 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000881649
50.
GRCh37:
Chr12:53203235
GRCh38:
Chr12:52809451
KRT4V256Mnot provided, White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309682
51.
GRCh37:
Chr12:53203260
GRCh38:
Chr12:52809476
KRT4D247EWhite sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309683
52.
GRCh37:
Chr12:53203476
GRCh38:
Chr12:52809692
KRT4not providedBenign
(Jun 20, 2021)
criteria provided, single submitterVCV001275627
53.
GRCh37:
Chr12:53204327
GRCh38:
Chr12:52810543
KRT4not providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001247167
54.
GRCh37:
Chr12:53204524
GRCh38:
Chr12:52810740
KRT4not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001179600
55.
GRCh37:
Chr12:53204552
GRCh38:
Chr12:52810768
KRT4White sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000309684
56.
GRCh37:
Chr12:53204603
GRCh38:
Chr12:52810819
KRT4White sponge nevus 1, not providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000309685
57.
GRCh37:
Chr12:53204610
GRCh38:
Chr12:52810826
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309686
58.
GRCh37:
Chr12:53204614
GRCh38:
Chr12:52810830
KRT4not provided, White sponge nevus 1Benign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000309687
59.
GRCh37:
Chr12:53204757
GRCh38:
Chr12:52810973
KRT4not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001231227
60.
GRCh37:
Chr12:53205443
GRCh38:
Chr12:52811659
KRT4not providedBenign
(May 12, 2021)
criteria provided, single submitterVCV001251178
61.
GRCh37:
Chr12:53205543
GRCh38:
Chr12:52811759
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309688
62.
GRCh37:
Chr12:53205585-53205586
GRCh38:
Chr12:52811801-52811802
KRT4not providednot providedno assertion providedVCV000066517
63.
GRCh37:
Chr12:53205601
GRCh38:
Chr12:52811817
KRT4R208HWhite sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309689
64.
GRCh37:
Chr12:53205666
GRCh38:
Chr12:52811882
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309690
65.
GRCh37:
Chr12:53205676
GRCh38:
Chr12:52811892
KRT4N183Snot provided, White sponge nevus 1Benign/Likely benign
(Dec 7, 2019)
criteria provided, multiple submitters, no conflictsVCV000309691
66.
GRCh37:
Chr12:53205697
GRCh38:
Chr12:52811913
KRT4T176MWhite sponge nevus 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309692
67.
GRCh37:
Chr12:53205711
GRCh38:
Chr12:52811927
KRT4White sponge nevus 1Likely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309693
68.
GRCh37:
Chr12:53205749
GRCh38:
Chr12:52811965
KRT4E159KWhite sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309694
69.
GRCh37:
Chr12:53205757
GRCh38:
Chr12:52811973
KRT4Q156Rnot provided, White sponge nevus 1Benign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000309695
70.
GRCh37:
Chr12:53205758
GRCh38:
Chr12:52811974
KRT4Q156*White sponge nevus 1Likely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000309696
71.
GRCh37:
Chr12:53205770
GRCh38:
Chr12:52811986
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309697
72.
GRCh37:
Chr12:53206039
GRCh38:
Chr12:52812255
KRT4not providedBenign
(Jun 19, 2021)
criteria provided, single submitterVCV001267686
73.
GRCh37:
Chr12:53207321
GRCh38:
Chr12:52813537
KRT4not providedBenign
(Nov 12, 2018)
criteria provided, single submitterVCV001287977
74.
GRCh37:
Chr12:53207386
GRCh38:
Chr12:52813602
KRT4D153NWhite sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000309698
75.
GRCh37:
Chr12:53207387
GRCh38:
Chr12:52813603
KRT4not provided, White sponge nevus 1Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000309699
76.
GRCh37:
Chr12:53207403-53207405
GRCh38:
Chr12:52813619-52813621
KRT4N146delWhite sponge nevus 1Pathogenic
(Dec 1, 1995)
no assertion criteria providedVCV000016918
77.
GRCh37:
Chr12:53207423-53207424
GRCh38:
Chr12:52813639-52813640
KRT4White sponge nevus 1Pathogenic
(Feb 1, 2000)
no assertion criteria providedVCV000016919
78.
GRCh37:
Chr12:53207438
GRCh38:
Chr12:52813654
KRT4White sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000309700
79.
GRCh37:
Chr12:53207439
GRCh38:
Chr12:52813655
KRT4T135Mnot provided, White sponge nevus 1Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000309701
80.
GRCh37:
Chr12:53207479
GRCh38:
Chr12:52813695
KRT4L122VWhite sponge nevus 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000309702
81.
GRCh37:
Chr12:53207482
GRCh38:
Chr12:52813698
KRT4P121TWhite sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000883597
82.
GRCh37:
Chr12:53207484
GRCh38:
Chr12:52813700
KRT4T120NWhite sponge nevus 1Likely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000881235
83.
GRCh37:
Chr12:53207490
GRCh38:
Chr12:52813706
KRT4L118WWhite sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000309703
84.
GRCh37:
Chr12:53207526
GRCh38:
Chr12:52813742
KRT4A106GWhite sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881236
85.
GRCh37:
Chr12:53207537
GRCh38:
Chr12:52813753
KRT4not provided, White sponge nevus 1Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000309704
86.
GRCh37:
Chr12:53207555
GRCh38:
Chr12:52813771
KRT4White sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309705
87.
GRCh37:
Chr12:53207576
GRCh38:
Chr12:52813792
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309706
88.
GRCh37:
Chr12:53207582
GRCh38:
Chr12:52813798
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309707
89.
GRCh37:
Chr12:53207583-53207584
GRCh38:
Chr12:52813799-52813800
KRT4not provided, not specifiedBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000768551
90.
GRCh37:
Chr12:53207619
GRCh38:
Chr12:52813835
KRT4G75EWhite sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309708
91.
GRCh37:
Chr12:53207628
GRCh38:
Chr12:52813844
KRT4A72Vnot provided, White sponge nevus 1Benign
(May 4, 2021)
criteria provided, multiple submitters, no conflictsVCV000309709
92.
GRCh37:
Chr12:53207638
GRCh38:
Chr12:52813854
KRT4R69*White sponge nevus 1Likely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000309710
93.
GRCh37:
Chr12:53207650
GRCh38:
Chr12:52813866
KRT4V65MWhite sponge nevus 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881697
94.
GRCh37:
Chr12:53207657
GRCh38:
Chr12:52813873
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309711
95.
GRCh37:
Chr12:53207687
GRCh38:
Chr12:52813903
KRT4not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000743163
96.
GRCh37:
Chr12:53207721
GRCh38:
Chr12:52813937
KRT4R41QWhite sponge nevus 1Benign
(Jan 12, 2018)
criteria provided, single submitterVCV000309712
97.
GRCh37:
Chr12:53207789
GRCh38:
Chr12:52814005
KRT4White sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309713
98.
GRCh37:
Chr12:53207812
GRCh38:
Chr12:52814028
KRT4G11RWhite sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000881698
99.
GRCh37:
Chr12:53207818
GRCh38:
Chr12:52814034
KRT4R9GWhite sponge nevus 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000309714
100.
GRCh37:
Chr12:53207893
GRCh38:
Chr12:52814109
KRT4White sponge nevus 1Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000309715
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