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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
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, 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, 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, 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, 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, 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, FAM71C, FAM90A1, FAR2, FBRSL1, FBXL14, FBXO21, FBXW8, FGD4, FGD6, FGF23, FGF6, FGFR1OP2, FICD, FIGNL2, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GAPDH, 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, KCCAT198, 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
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150740
2.
GRCh37:
Chr12:114706208-133777902
GRCh38:
Chr12:114268403-133201316
AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CABP1-DT, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CIT, CLIP1, CLIP1-AS1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, FZD10-AS1, GALNT9, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HRK, HSPB8, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, KSR2, LINC00173, LINC00507, LINC00508, LINC00934, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02423, LINC02439, LINC02440, LINC02441, LINC02460, LINC02824, LINC02825, LINC02826, LOC100128276, LOC100130238, LOC100506551, LOC100506691, LOC100996671, LOC101593348, LOC101928416, LOC105370024, LOC105370068, LOC106783497, LOC109280165, LOC109286556, LOC110120878, LOC110599568, LOC111258525, LOC111258526, LOC111556143, LOC111776216, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939933, LOC113939934, LOC116268451, LOC116268452, LOC116268453, LRCOL1, LRRC43, MAP1LC3B2, MED13L, MIR1178, MIR3612, MIR3908, MIR4304, MIR4419B, MIR4472-2, MIR4498, MIR4700, MIR5188, MIR620, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, NRAV, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, PXN-AS1, RAB35, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RNFT2, RNU4-1, RNU4-2, RPLP0, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, SPRING1, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCTN2, TESC, TESC-AS1, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM233, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155589
3.
GRCh37:
Chr12:115108090
GRCh38:
Chr12:114670285
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881781
4.
GRCh37:
Chr12:115108107
GRCh38:
Chr12:114670302
TBX3Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307324
5.
GRCh37:
Chr12:115108136
GRCh38:
Chr12:114670331
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307325
6.
GRCh37:
Chr12:115108264
GRCh38:
Chr12:114670459
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307326
7.
GRCh37:
Chr12:115108269
GRCh38:
Chr12:114670464
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881782
8.
GRCh37:
Chr12:115108306
GRCh38:
Chr12:114670501
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307327
9.
GRCh37:
Chr12:115108334
GRCh38:
Chr12:114670529
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307328
10.
GRCh37:
Chr12:115108361
GRCh38:
Chr12:114670556
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307329
11.
GRCh37:
Chr12:115108382
GRCh38:
Chr12:114670577
TBX3Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000307330
12.
GRCh37:
Chr12:115108422
GRCh38:
Chr12:114670617
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307331
13.
GRCh37:
Chr12:115108459
GRCh38:
Chr12:114670654
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307332
14.
GRCh37:
Chr12:115108465
GRCh38:
Chr12:114670660
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307333
15.
GRCh37:
Chr12:115108561-115108563
GRCh38:
Chr12:114670756-114670758
TBX3Ulnar-mammary syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitterVCV000307334
16.
GRCh37:
Chr12:115108572
GRCh38:
Chr12:114670767
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000882930
17.
GRCh37:
Chr12:115108756
GRCh38:
Chr12:114670951
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000882931
18.
GRCh37:
Chr12:115108851
GRCh38:
Chr12:114671046
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000882932
19.
GRCh37:
Chr12:115108899
GRCh38:
Chr12:114671094
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307335
20.
GRCh37:
Chr12:115108907
GRCh38:
Chr12:114671102
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307336
21.
GRCh37:
Chr12:115108931
GRCh38:
Chr12:114671126
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307337
22.
GRCh37:
Chr12:115109075
GRCh38:
Chr12:114671270
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307338
23.
GRCh37:
Chr12:115109117
GRCh38:
Chr12:114671312
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307339
24.
GRCh37:
Chr12:115109144
GRCh38:
Chr12:114671339
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000883727
25.
GRCh37:
Chr12:115109175
GRCh38:
Chr12:114671370
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307340
26.
GRCh37:
Chr12:115109223
GRCh38:
Chr12:114671418
TBX3Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000307341
27.
GRCh37:
Chr12:115109239
GRCh38:
Chr12:114671434
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881387
28.
GRCh37:
Chr12:115109242-115109243
GRCh38:
Chr12:114671437-114671438
TBX3Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307342
29.
GRCh37:
Chr12:115109243-115109246
GRCh38:
Chr12:114671438-114671441
TBX3Ulnar-mammary syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000307343
30.
GRCh37:
Chr12:115109249
GRCh38:
Chr12:114671444
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307344
31.
GRCh37:
Chr12:115109269
GRCh38:
Chr12:114671464
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881388
32.
GRCh37:
Chr12:115109280
GRCh38:
Chr12:114671475
TBX3Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000307345
33.
GRCh37:
Chr12:115109401
GRCh38:
Chr12:114671596
TBX3not provided, Ulnar-mammary syndromeBenign/Likely benign
(Dec 6, 2019)
criteria provided, multiple submitters, no conflictsVCV000307346
34.
GRCh37:
Chr12:115109502
GRCh38:
Chr12:114671697
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881389
35.
GRCh37:
Chr12:115109514
GRCh38:
Chr12:114671709
TBX3not provided, Ulnar-mammary syndromeBenign
(Apr 20, 2019)
criteria provided, multiple submitters, no conflictsVCV000307347
36.
GRCh37:
Chr12:115109562
GRCh38:
Chr12:114671757
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881831
37.
GRCh37:
Chr12:115109564
GRCh38:
Chr12:114671759
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881832
38.
GRCh37:
Chr12:115109589
GRCh38:
Chr12:114671784
TBX3Ulnar-mammary syndromeLikely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000307348
39.
GRCh37:
Chr12:115109600
GRCh38:
Chr12:114671795
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000881833
40.
GRCh37:
Chr12:115109621
GRCh38:
Chr12:114671816
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307349
41.
GRCh37:
Chr12:115109631
GRCh38:
Chr12:114671826
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307350
42.
GRCh37:
Chr12:115109632
GRCh38:
Chr12:114671827
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000307351
43.
GRCh37:
Chr12:115109634
GRCh38:
Chr12:114671829
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307352
44.
GRCh37:
Chr12:115109736
GRCh38:
Chr12:114671931
TBX3Ulnar-mammary syndrome, not providedBenign
(Jun 11, 2021)
criteria provided, multiple submitters, no conflictsVCV000307353
45.
GRCh37:
Chr12:115109757
GRCh38:
Chr12:114671952
TBX3not providedLikely benign
(Dec 20, 2017)
criteria provided, single submitterVCV000726426
46.
GRCh37:
Chr12:115109814
GRCh38:
Chr12:114672009
TBX3Ulnar-mammary syndrome, not providedConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000307354
47.
GRCh37:
Chr12:115109844
GRCh38:
Chr12:114672039
TBX3not provided, Ulnar-mammary syndromeConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000288773
48.
GRCh37:
Chr12:115109847
GRCh38:
Chr12:114672042
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307355
49.
GRCh37:
Chr12:115109896-115109897
GRCh38:
Chr12:114672091-114672092
TBX3P661fs, P641fsUlnar-mammary syndromePathogenic
(Sep 19, 2018)
criteria provided, single submitterVCV000591004
50.
GRCh37:
Chr12:115109919
GRCh38:
Chr12:114672114
TBX3Ulnar-mammary syndromeBenign
(Apr 24, 2019)
criteria provided, multiple submitters, no conflictsVCV000307356
51.
GRCh37:
Chr12:115109924
GRCh38:
Chr12:114672119
TBX3G632S, G652Snot providedUncertain significance
(Oct 10, 2016)
criteria provided, single submitterVCV000497455
52.
GRCh37:
Chr12:115109987
GRCh38:
Chr12:114672182
TBX3L611M, L631Mnot providedLikely benign
(Dec 29, 2017)
criteria provided, single submitterVCV000722203
53.
GRCh37:
Chr12:115109991
GRCh38:
Chr12:114672186
TBX3not providedLikely benign
(May 17, 2018)
criteria provided, single submitterVCV000719198
54.
GRCh37:
Chr12:115110018
GRCh38:
Chr12:114672213
TBX3Ulnar-mammary syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000711210
55.
GRCh37:
Chr12:115110028
GRCh38:
Chr12:114672223
TBX3A617V, A597VUlnar-mammary syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000307357
56.
GRCh37:
Chr12:115110035
GRCh38:
Chr12:114672230
TBX3S615A, S595AUlnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000307358
57.
GRCh37:
Chr12:115110050
GRCh38:
Chr12:114672245
TBX3A610T, A590TUlnar-mammary syndromeBenign
(Dec 31, 2019)
criteria provided, single submitterVCV000767491
58.
GRCh37:
Chr12:115110242
GRCh38:
Chr12:114672437
TBX3not providedBenign
(Aug 18, 2019)
criteria provided, single submitterVCV001283195
59.
GRCh37:
Chr12:115110242-115110244
GRCh38:
Chr12:114672437-114672439
TBX3not providedLikely benign
(Oct 22, 2019)
criteria provided, single submitterVCV001215660
60.
GRCh37:
Chr12:115110251
GRCh38:
Chr12:114672446
TBX3not providedBenign
(Aug 18, 2019)
criteria provided, single submitterVCV001245920
61.
GRCh37:
Chr12:115110252
GRCh38:
Chr12:114672447
TBX3not providedBenign
(Apr 7, 2019)
criteria provided, single submitterVCV001233766
62.
GRCh37:
Chr12:115110252-115110253
GRCh38:
Chr12:114672447-114672448
TBX3not providedLikely benign
(Oct 22, 2019)
criteria provided, single submitterVCV001201031
63.
GRCh37:
Chr12:115110253
GRCh38:
Chr12:114672448
TBX3not providedLikely benign
(Jan 16, 2019)
criteria provided, single submitterVCV001190044
64.
GRCh37:
Chr12:115111745
GRCh38:
Chr12:114673940
TBX3not providedBenign
(Dec 17, 2018)
criteria provided, single submitterVCV001291746
65.
GRCh37:
Chr12:115111860
GRCh38:
Chr12:114674055
TBX3not providedLikely benign
(Feb 23, 2020)
criteria provided, single submitterVCV001183114
66.
GRCh37:
Chr12:115111965
GRCh38:
Chr12:114674160
TBX3Ulnar-mammary syndromeUncertain significance
(Oct 15, 2019)
criteria provided, single submitterVCV000966419
67.
GRCh37:
Chr12:115111985
GRCh38:
Chr12:114674180
TBX3H585Q, H565QUlnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307359
68.
GRCh37:
Chr12:115112009
GRCh38:
Chr12:114674204
TBX3Ulnar-mammary syndromeBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000307360
69.
GRCh37:
Chr12:115112024
GRCh38:
Chr12:114674219
TBX3Ulnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000307361
70.
GRCh37:
Chr12:115112027
GRCh38:
Chr12:114674222
TBX3Ulnar-mammary syndromeBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000307362
71.
GRCh37:
Chr12:115112043
GRCh38:
Chr12:114674238
TBX3A566G, A546GUlnar-mammary syndromeUncertain significance
(Sep 6, 2019)
criteria provided, single submitterVCV001028466
72.
GRCh37:
Chr12:115112055
GRCh38:
Chr12:114674250
TBX3A562V, A542VUlnar-mammary syndromeBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000307363
73.
GRCh37:
Chr12:115112056
GRCh38:
Chr12:114674251
TBX3A542T, A562TUlnar-mammary syndromeUncertain significance
(Jun 16, 2019)
criteria provided, single submitterVCV000944182
74.
GRCh37:
Chr12:115112064
GRCh38:
Chr12:114674259
TBX3T539K, T559Knot specifiedUncertain significance
(Jan 9, 2020)
criteria provided, single submitterVCV000917644
75.
GRCh37:
Chr12:115112153
GRCh38:
Chr12:114674348
TBX3Ulnar-mammary syndromeBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000883781
76.
GRCh37:
Chr12:115112203
GRCh38:
Chr12:114674398
TBX3F493V, F513VUlnar-mammary syndromeUncertain significance
(May 7, 2019)
criteria provided, single submitterVCV000931444
77.
GRCh37:
Chr12:115112257
GRCh38:
Chr12:114674452
TBX3Q475*, Q495*Ulnar-mammary syndrome, Inborn genetic diseasesPathogenic
(Feb 6, 2020)
criteria provided, single submitterVCV000417720
78.
GRCh37:
Chr12:115112288
GRCh38:
Chr12:114674483
TBX3Ulnar-mammary syndromeLikely benign
(Feb 24, 2020)
criteria provided, single submitterVCV000767524
79.
GRCh37:
Chr12:115112390
GRCh38:
Chr12:114674585
TBX3not provided, Ulnar-mammary syndromeConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000593772
80.
GRCh37:
Chr12:115112409
GRCh38:
Chr12:114674604
TBX3S424F, S444Fnot providedLikely benign
(Aug 23, 2021)
criteria provided, single submitterVCV001254278
81.
GRCh37:
Chr12:115112411
GRCh38:
Chr12:114674606
TBX3Ulnar-mammary syndromeLikely benign
(Apr 28, 2017)
criteria provided, single submitterVCV000307364
82.
GRCh37:
Chr12:115112430
GRCh38:
Chr12:114674625
TBX3H417R, H437RUlnar-mammary syndromeLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000307365
83.
GRCh37:
Chr12:115112444
GRCh38:
Chr12:114674639
TBX3Ulnar-mammary syndrome, not providedBenign/Likely benign
(Nov 27, 2020)
criteria provided, multiple submitters, no conflictsVCV000307366
84.
GRCh37:
Chr12:115112447
GRCh38:
Chr12:114674642
TBX3Ulnar-mammary syndromeLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000307367
85.
GRCh37:
Chr12:115112472
GRCh38:
Chr12:114674667
TBX3R403Q, R423Qnot provided, Obesity, not specified,
Ulnar-mammary syndrome
Likely benign
(Nov 25, 2020)
criteria provided, multiple submitters, no conflictsVCV000499463
86.
GRCh37:
Chr12:115112490
GRCh38:
Chr12:114674685
TBX3F397fs, F417fsnot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitterVCV000987156
87.
GRCh37:
Chr12:115112507
GRCh38:
Chr12:114674702
TBX3Ulnar-mammary syndrome, not specified, not provided
Benign
(Oct 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000198189
88.
GRCh37:
Chr12:115112531
GRCh38:
Chr12:114674726
TBX3not providedLikely benign
(Dec 13, 2018)
criteria provided, single submitterVCV000784912
89.
GRCh37:
Chr12:115112554
GRCh38:
Chr12:114674749
TBX3S396T, S376Tnot specified, not provided, Ulnar-mammary syndrome
Benign
(Nov 30, 2020)
criteria provided, multiple submitters, no conflictsVCV000282378
90.
GRCh37:
Chr12:115112578
GRCh38:
Chr12:114674773
TBX3E368K, E388KUlnar-mammary syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000881450
91.
GRCh37:
Chr12:115112579
GRCh38:
Chr12:114674774
TBX3Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000307368
92.
GRCh37:
Chr12:115112585
GRCh38:
Chr12:114674780
TBX3not specified, Ulnar-mammary syndromeBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000260748
93.
GRCh37:
Chr12:115112586
GRCh38:
Chr12:114674781
TBX3H365R, H385Rnot provided, Ulnar-mammary syndromeBenign/Likely benign
(May 18, 2021)
criteria provided, multiple submitters, no conflictsVCV000307369
94.
GRCh37:
Chr12:115112600-115112610
GRCh38:
Chr12:114674795-114674805
TBX3A357fs, A377fsUlnar-mammary syndromePathogenic
(Jun 1, 2020)
criteria provided, single submitterVCV001070549
95.
GRCh37:
Chr12:115112600
GRCh38:
Chr12:114674795
TBX3E360D, E380Dnot provided, Ulnar-mammary syndromeConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000499459
96.
GRCh37:
Chr12:115112622
GRCh38:
Chr12:114674817
TBX3G373V, G353Vnot providedUncertain significance
(Feb 1, 2018)
criteria provided, single submitterVCV000546724
97.
GRCh37:
Chr12:115114036
GRCh38:
Chr12:114676231
TBX3not providedBenign
(Apr 10, 2019)
criteria provided, single submitterVCV001289150
98.
GRCh37:
Chr12:115114117
GRCh38:
Chr12:114676312
TBX3Ulnar-mammary syndromeLikely pathogenic
(Mar 22, 2019)
criteria provided, single submitterVCV000849016
99.
GRCh37:
Chr12:115114128
GRCh38:
Chr12:114676323
TBX3not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitterVCV000771277
100.
GRCh37:
Chr12:115114146
GRCh38:
Chr12:114676341
TBX3Ulnar-mammary syndromeBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000307370
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