| - GRCh37:
- Chr12:282465-133773393
- GRCh38:
- Chr12:121271-133196807
| LOC124629407, LOC124629408, LOC124629409, LOC124629410, LOC124629411, LOC124629412, LOC124629413, LOC124629414, LOC124629415, LOC124629416, LOC124629417, LOC124629418, LOC124629419, LOC124629420, LOC124629421, LOC124629422, LOC124629423, LOC124629424, LOC124629425, LOC124629426, LOC124646378, LOC124646379, LOC124646380, LOC124646381, LOC124646382, LOC124646383, LOC124646384, LOC124646385, LOC124646387, LOC124646388, LOC124646389, LOC124646390, LOC124646391, LOC124646392, LOC124646393, LOC124646394, LOC124646395, LOC124819387, LOC124819388, LOC124819389, LOC124819390, LOC124819391, LOC124819392, LOC124819393, LOC124819394, LOC124819395, LOC124819396, LOC124819397, LOC124819398, LOC124819399, LOC124819400, LOC124819401, LOC124819402, LOC124819403, LOC124819404, LOC124819405, LOC124819406, LOC124819407, LOC124819408, LOC124819409, LOC124819410, LOC124849250, LOC124849251, LOC124849252, LOC124849254, LOC124849259, LOC124849260, LOC124849261, LOC124849262, LOC124849266, LOC124849267, LOC124849268, LOC124849269, LOC124849270, LOC124849271, LOC124849272, LOC124849273, LOC124849274, LOC124849275, LOC124849277, LOC124849278, LOC124849279, LOC124849280, LOC124849281, LOC124849282, LOC124849283, LOC124849284, LOC124849286, LOC124849287, LOC124849288, LOC124849289, LOC124849290, LOC124849291, LOC126861410, LOC126861411, LOC126861412, LOC126861413, LOC126861414, LOC126861415, LOC126861416, LOC126861417, LOC126861418, LOC126861419, LOC126861420, LOC126861421, LOC126861422, LOC126861423, LOC126861424, LOC126861425, LOC126861426, LOC126861427, LOC126861428, LOC126861429, LOC126861430, LOC126861431, LOC126861432, LOC126861433, LOC126861434, LOC126861435, LOC126861436, LOC126861437, LOC126861438, LOC126861439, LOC126861440, LOC126861441, LOC126861442, LOC126861443, LOC126861444, LOC126861445, LOC126861446, LOC126861447, LOC126861448, LOC126861449, LOC126861450, LOC126861451, LOC126861452, LOC126861453, LOC126861454, LOC126861455, LOC126861456, LOC126861457, LOC126861458, LOC126861459, LOC126861460, LOC126861461, LOC126861462, LOC126861463, LOC126861464, LOC126861465, LOC126861466, LOC126861467, LOC126861468, LOC126861469, LOC126861470, LOC126861471, LOC126861472, LOC126861473, LOC126861474, LOC126861475, LOC126861476, LOC126861477, LOC126861478, LOC126861479, LOC126861480, LOC126861481, LOC126861482, LOC126861483, LOC126861484, LOC126861485, LOC126861486, LOC126861487, LOC126861488, LOC126861489, LOC126861490, LOC126861491, LOC126861492, LOC126861493, LOC126861494, LOC126861495, LOC126861496, LOC126861497, LOC126861498, LOC126861499, LOC126861500, LOC126861501, LOC126861502, LOC126861503, LOC126861504, LOC126861505, LOC126861506, LOC126861507, LOC126861508, LOC126861509, LOC126861510, LOC126861511, LOC126861512, LOC126861513, LOC126861514, LOC126861515, LOC126861516, LOC126861517, LOC126861518, LOC126861519, LOC126861520, LOC126861521, LOC126861522, LOC126861523, LOC126861524, LOC126861525, LOC126861526, LOC126861527, LOC126861528, LOC126861529, LOC126861530, LOC126861531, LOC126861532, LOC126861533, LOC126861534, LOC126861535, LOC126861536, LOC126861537, LOC126861538, LOC126861539, LOC126861540, LOC126861541, LOC126861542, LOC126861543, LOC126861544, LOC126861545, LOC126861546, LOC126861547, LOC126861548, LOC126861549, LOC126861550, LOC126861551, LOC126861552, LOC126861553, LOC126861554, LOC126861555, LOC126861556, LOC126861557, LOC126861558, LOC126861559, LOC126861560, LOC126861561, LOC126861562, LOC126861563, LOC126861564, LOC126861565, LOC126861566, LOC126861567, LOC126861568, LOC126861569, LOC126861570, LOC126861571, LOC126861572, LOC126861573, LOC126861574, LOC126861575, LOC126861576, LOC126861577, LOC126861578, LOC126861579, LOC126861580, LOC126861581, LOC126861582, LOC126861583, LOC126861584, LOC126861585, LOC126861586, LOC126861587, LOC126861588, LOC126861589, LOC126861590, LOC126861591, LOC126861592, LOC126861593, LOC126861594, LOC126861595, LOC126861596, LOC126861597, LOC126861598, LOC126861599, LOC126861600, LOC126861601, LOC126861602, LOC126861603, LOC126861604, LOC126861605, LOC126861606, LOC126861607, LOC126861608, LOC126861609, LOC126861610, LOC126861611, LOC126861612, LOC126861613, LOC126861614, LOC126861615, LOC126861616, LOC126861617, LOC126861618, LOC126861619, LOC126861620, LOC126861621, LOC126861622, LOC126861623, LOC126861624, LOC126861625, LOC126861626, LOC126861627, LOC126861628, LOC126861629, LOC126861630, LOC126861631, LOC126861632, LOC126861633, LOC126861634, LOC126861635, LOC126861636, LOC126861637, LOC126861638, LOC126861639, LOC126861640, LOC126861641, LOC126861642, LOC126861643, LOC126861644, LOC126861645, LOC126861646, LOC126861647, LOC126861648, LOC126861649, LOC126861650, LOC126861651, LOC126861652, LOC126861653, LOC126861654, LOC126861655, LOC126861656, LOC126861657, LOC126861658, LOC126861659, LOC126861660, LOC126861661, LOC126861662, LOC126861663, LOC126861664, LOC126861665, LOC126861666, LOC126861667, LOC126861668, LOC126861669, LOC126861670, LOC126861671, LOC126861672, LOC126861673, LOC126861674, LOC126861675, LOC126861676, LOC126861677, LOC126861678, LOC126861679, LOC126861680, LOC126861681, LOC126861682, LOC126861683, LOC126861684, LOC126861685, LOC126861686, LOC126861687, LOC126861688, LOC126861689, LOC126861690, LOC126861691, LOC126861692, LOC126861693, LOC126861694, LOC126861695, LOC126861696, LOC126861697, LOC126861698, LOC126861699, LOC126861700, LOC126861701, LOC126861702, LOC128071547, LOC128125814, LOC128125816, LOC128706664, LOC128732306, LOC128772374, LOC128772375, LOC128772376, LOC128772377, LOC128772378, LOC128772379, LOC128772380, LOC128772381, LOC128772382, LOC128772383, LOC128772384, LOC128772385, LOC128772386, LOC128772387, LOC128781585, LOC283387, LOC414300, LOC440084, LOC574538, LOC642846, LOC643339, LOC645485, LOC728715, LOC729291, LOH12CR2, LPAR5, LPCAT3, LRCOL1, LRIG3, LRIG3-DT, LRP1, LRP1-AS, LRP6, LRRC10, LRRC23, LRRC43, LRRIQ1, LRRK2, LRRK2-DT, 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, 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, A2M, A2M-AS1, A2ML1, AAAS, AACS, ABCB9, ABCC9, ABCD2, ABTB3, ACACB, ACAD10, ACADS, ACRBP, ACSM4, ACSS3, ACTR6, ACVR1B, ACVRL1, ADAMTS20, ADCY6, ADCY6-DT, ADGRD1, ADGRD1-AS1, ADIPOR2, AEBP2, AGAP2, AGAP2-AS1, AICDA, AKAP3, ALDH1L2, MIR3657, MIR3685, MIR3908, MIR3913-1, MIR3913-2, MIR3922, MIR3974, MIR4302, MIR4303, MIR4304, 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, MIRLET7IHG, MLEC, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MRPL42, MRPL51, MRPS35, MSI1, MSRB3, MSRB3-AS1, 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, PRDM4-AS1, 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, RAB35-AS1, RAB3IP, RAB5B, RACGAP1, RAD51AP1, RAD52, RAD9B, RAN, RAP1B, RAPGEF3, RARG, RASAL1, RASSF3, RASSF3-DT, RASSF8, RASSF8-AS1, RASSF9, RBM19, RBMS2, RBP5, RDH16, RDH5, RECQL, REDIC1, REP15, RERG, RERG-AS1, RERGL, RESF1, RFC5, RFLNA, RFX4, RHEBL1, RHNO1, RHOF, RIC8B, RILPL1, RILPL2, RIMBP2, RIMKLB, RITA1, RLIG1, RMST, RND1, RNF10, RNF34, RNF41, RNFT2, RNU4-1, RNU4-2, RNU7-1, RPAP3, RPAP3-DT, RPH3A, RPL41, RPL6, RPLP0, RPS26, RSRC2, RXYLT1, RXYLT1-AS1, SARNP, SART3, SBNO1, 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, SLC38A4-AS1, 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, SPMIP11, 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, 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, TMT1A, TMT1B, TMTC1, TMTC2, TMTC3, TNFRSF1A, TNS2, TNS2-AS1, 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, 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, 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, BLTP3B, BMAL2, BMAL2-AS1, BORCS5, BRAP, BRI3BP, BTG1, BTG1-DT, C12orf4, C12orf42, C12orf42-AS1, C12orf43, C12orf50, C12orf54, C12orf56, C12orf57, C12orf60, C12orf71, 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, CRADD-AS1, 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, FIGNL2-DT, FKBP11, FKBP4, FLJ12825, FLJ13224, FMNL3, FOXJ2, FOXM1, FOXN4, FRA12A, FRS2, FZD10, FZD10-AS1, GABARAPL1, GABARAPL1-AS1, GALNT4, GALNT6, GALNT8, GALNT9, GALNT9-AS1, GAPDH, GARIN6, GAS2L3, GATC, GAU1, GCN1, GDF11, GDF3, GIHCG, GIT2, GLI1, GLIPR1, GLIPR1-AS1, GLIPR1L1, GLIPR1L2, GLS2, GLT1D1, GLT8D2, GLTP, GNB3, GNPTAB, GNS, GOLGA3, GOLT1B, GPD1, GPN3, GPR162, GPR182, GPR19, GPR84, GPR84-AS1, GPRC5A, GPRC5D, GPRC5D-AS1, GRIN2B, GRIP1, GSG1, GTF2H3, GTSF1, GUCY2C, GXYLT1, GYS2, H1-7, H2AJ, H3-5, H4C16, 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, IQSEC3-AS1, IRAG2, IRAK3, IRAK4, ISCU, ITFG2, ITFG2-AS1, ITGA5, ITGA7, ITGB7, ITPR2, ITPR2-AS1, 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, TRS-CGA4-1, TRW-CCA4-1, TSFM, TSPAN11, TSPAN19, TSPAN31, TSPAN8, TSPAN9, TUBA1A, TUBA1B, TUBA1B-AS1, TUBA1C, TULP3, TWF1, TXNRD1, UBC, UBE2N, UBE3B, ULK1, UNC119B, UNG, UQCC6, 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, LINC01089, LINC01234, LINC01252, LINC01257, LINC01404, LINC01405, LINC01465, LINC01479, LINC01486, LINC01489, LINC01490, LINC01498, LINC01559, LINC01619, LINC02156, LINC02231, LINC02258, LINC02347, LINC02350, LINC02356, LINC02359, LINC02361, LINC02366, LINC02367, LINC02368, LINC02369, LINC02370, LINC02371, 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, LINC02416, 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, LINC02456, LINC02458, LINC02459, LINC02460, LINC02461, LINC02464, LINC02468, LINC02470, LINC02471, LINC02555, LINC02598, LINC02617, LINC02820, LINC02823, LINC02824, LINC02825, LINC02826, LINC02827, LINC02874, LINC02882, LINC02909, LINC02972, LINC02985, LLPH, LLPH-DT, LMBR1L, LMNTD1, LMO3, LNCOG, LOC100128253, LOC100128276, LOC100130268, LOC100240734, LOC100240735, LOC100287944, LOC100505978, LOC100506551, LOC100506606, LOC100506869, LOC100507250, LOC100507560, LOC100652999, LOC100996671, LOC101593348, LOC101927531, LOC101927583, LOC101927608, LOC101928002, LOC101928030, LOC101928317, LOC101928416, LOC101928937, LOC101929974, LOC102723544, LOC102724020, LOC102724030, LOC102724421, LOC105369187, LOC105369595, LOC105369617, LOC105369632, LOC105369704, LOC105369728, LOC105369747, LOC105369781, LOC105369783, LOC105369803, LOC105369850, LOC105369879, LOC105369885, LOC105369908, LOC105369911, LOC105369937, LOC105369945, LOC105369946, LOC105369995, LOC105370002, LOC105370024, LOC105370027, 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, 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, LOC124625876, LOC124625877, LOC124625878, LOC124625879, LOC124625880, LOC124625881, LOC124625882, LOC124625883, LOC124625884, LOC124625885, LOC124625886, LOC124625887, LOC124625889, LOC124625890, LOC124625892, LOC124625893, LOC124625895, LOC124625896, LOC124625897, LOC124625898, LOC124625899, LOC124625900, LOC124625901, LOC124625902, LOC124625903, LOC124625904, LOC124625905, LOC124625906, LOC124625907, LOC124625908, LOC124625909, LOC124625910, LOC124625911, LOC124625912, LOC124625913, LOC124625914, LOC124625915, LOC124625916, LOC124625917, LOC124625918, LOC124625919, LOC124625920, LOC124625921, LOC124629325, LOC124629326, LOC124629327, LOC124629329, LOC124629330, LOC124629331, LOC124629332, LOC124629333, LOC124629334, LOC124629336, LOC124629337, LOC124629338, LOC124629339, LOC124629340, LOC124629342, LOC124629343, LOC124629344, LOC124629345, LOC124629346, LOC124629347, LOC124629348, LOC124629349, LOC124629350, LOC124629351, LOC124629352, LOC124629353, LOC124629354, LOC124629355, LOC124629356, LOC124629357, LOC124629358, LOC124629360, LOC124629361, LOC124629362, LOC124629363, LOC124629364, LOC124629365, LOC124629366, LOC124629367, LOC124629368, LOC124629369, LOC124629370, LOC124629372, LOC124629373, LOC124629374, LOC124629375, LOC124629376, LOC124629377, LOC124629378, LOC124629379, LOC124629386, LOC124629388, LOC124629389, LOC124629390, LOC124629391, LOC124629392, LOC124629393, LOC124629394, LOC124629395, LOC124629399, LOC124629400, LOC124629401, LOC124629403, LOC124629404 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr12:53245634-53952608
- GRCh38:
- Chr12:52851850-53558824
| AAAS, AMHR2, ATF7, ATF7-NPFF, CSAD, EIF4B, ESPL1, IGFBP6, ITGB7, KRT18, KRT8, LOC100652999, LOC106096416, LOC112163607, LOC112163608, LOC112163609, LOC116268440, LOC121466700, LOC122455340, LOC124629360, LOC124629361, LOC124629362, LOC124629363, LOC124629364, LOC124629365, LOC124629366, LOC126861529, MAP3K12, MFSD5, MIR6757, MIR9898, MYG1, NPFF, PCBP2, PCBP2-OT1, PFDN5, PRR13, RARG, SOAT2, SP1, SP7, SPRYD3, TARBP2, TNS2, TNS2-AS1, ZNF740 | | See cases | Likely pathogenic (Mar 9, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr12:53493442-54118309
- GRCh38:
- Chr12:53099658-53724525
| ATF7-NPFF, LOC100652999, LOC124629366, LOC124629367, PCBP2-OT1, TARBP2, ZNF740, LOC126861529, MFSD5, MYG1, NPFF, LOC124629364, LOC124629365, PCBP2, MAP3K12, PFDN5, PRR13, RARG, SOAT2, SP1, SP7, ATP5MC2, CALCOCO1, AAAS, AMHR2, ATF7, CSAD, ESPL1, IGFBP6, ITGB7, LOC112163607, LOC112163608, LOC112163609, LOC116268440, LOC121466701, LOC121832835, LOC122455340, LOC124629363 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53617808-54616234
- GRCh38:
- Chr12:53224024-54222450
| AAAS, AMHR2, ATF7, ATF7-NPFF, ATP5MC2, CALCOCO1, CISTR, ESPL1, FAM242C, FLJ12825, HOTAIR, HOXC-AS1, HOXC-AS2, HOXC-AS3, HOXC10, HOXC11, HOXC12, HOXC13, HOXC13-AS, HOXC4, HOXC5, HOXC6, HOXC8, HOXC9, LINC02381, LOC100240734, LOC100240735, LOC100652999, LOC102724030, LOC107105350, LOC108228199, LOC108281184, LOC110121456, LOC110121480, LOC112163607, LOC112163608, LOC112163609, LOC112163612, LOC116268440, LOC117038775, LOC121466701, LOC121466702, LOC121832835, LOC122455340, LOC124629366, LOC124629367, LOC124629368, LOC124629369, LOC126861529, LOC126861530, LOC126861531, LOC126861532, MAP3K12, MFSD5, MIR196A2, MIR615, MYG1, NPFF, PCBP2, PCBP2-OT1, PFDN5, PRR13, RARG, SMUG1, SP1, SP7, TARBP2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr12:53306793-53321761
| MYG1, AAAS | | Glucocorticoid deficiency with achalasia | Pathogenic (Mar 7, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr12:53701054
- GRCh38:
- Chr12:53307270
| AAAS | | not provided | Benign (May 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701104
- GRCh38:
- Chr12:53307320
| AAAS | | not provided | Benign (May 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701241
- GRCh38:
- Chr12:53307457
| AAAS | | Glucocorticoid deficiency with achalasia | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701263-53701266
- GRCh38:
- Chr12:53307479-53307482
| AAAS | | not provided | Likely benign (Nov 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701279
- GRCh38:
- Chr12:53307495
| AAAS | | not provided | Likely benign (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701316
- GRCh38:
- Chr12:53307532
| AAAS | G500E, G533E | not provided | Uncertain significance (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701317
- GRCh38:
- Chr12:53307533
| AAAS | G533R, G500R | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701323
- GRCh38:
- Chr12:53307539
| AAAS | L531F, L498F | Glucocorticoid deficiency with achalasia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701333
- GRCh38:
- Chr12:53307549
| AAAS | | not provided | Likely benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701337
- GRCh38:
- Chr12:53307553
| AAAS | A526G, A493G | Inborn genetic diseases | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701348
- GRCh38:
- Chr12:53307564
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701357
- GRCh38:
- Chr12:53307573
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701359
- GRCh38:
- Chr12:53307575
| AAAS | T486P, T519P | not provided | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701360
- GRCh38:
- Chr12:53307576
| AAAS | F485L, F518L | not provided | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701397
- GRCh38:
- Chr12:53307613
| AAAS | A506G, A473G | not provided | Uncertain significance (Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701399
- GRCh38:
- Chr12:53307615
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign/Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701416
- GRCh38:
- Chr12:53307632
| AAAS | R500W, R467W | Glucocorticoid deficiency with achalasia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701435
- GRCh38:
- Chr12:53307651
| AAAS | | not provided | Likely benign (Dec 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701436
- GRCh38:
- Chr12:53307652
| AAAS | R460H, R493H | Inborn genetic diseases | Uncertain significance (Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701464
- GRCh38:
- Chr12:53307680
| AAAS | L484V, L451V | Glucocorticoid deficiency with achalasia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701466
- GRCh38:
- Chr12:53307682
| AAAS | P450fs, P483fs | Glucocorticoid deficiency with achalasia | Uncertain significance (Sep 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701466
- GRCh38:
- Chr12:53307682
| AAAS | P483L, P450L | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance (Jan 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701481
- GRCh38:
- Chr12:53307697
| AAAS | R445L, R478L | not provided | Uncertain significance (Feb 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701481
- GRCh38:
- Chr12:53307697
| AAAS | R445P, R478P | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701482
- GRCh38:
- Chr12:53307698
| AAAS | R478*, R445* | Neurodevelopmental disorder, not provided, Glucocorticoid deficiency with achalasia
| Pathogenic (May 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701511
- GRCh38:
- Chr12:53307727
| AAAS | | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701511
- GRCh38:
- Chr12:53307727
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701621
- GRCh38:
- Chr12:53307837
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701669
- GRCh38:
- Chr12:53307885
| AAAS | T459I, T426I | not provided | Uncertain significance (Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701681
- GRCh38:
- Chr12:53307897
| AAAS | P422L, P455L | Inborn genetic diseases | Uncertain significance (Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701686-53701687
- GRCh38:
- Chr12:53307902-53307903
| AAAS | Q421fs, Q454fs | Glucocorticoid deficiency with achalasia | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701715
- GRCh38:
- Chr12:53307931
| AAAS | | not provided | Pathogenic (Apr 17, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701835
- GRCh38:
- Chr12:53308051
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Pathogenic (Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53701856
- GRCh38:
- Chr12:53308072
| AAAS | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701860
- GRCh38:
- Chr12:53308076
| AAAS | S403N, S436N | Inborn genetic diseases | Uncertain significance (Aug 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701866
- GRCh38:
- Chr12:53308082
| AAAS | R434Q, R401Q | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity (Sep 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53701867
- GRCh38:
- Chr12:53308083
| AAAS | R434*, R401* | Glucocorticoid deficiency with achalasia | Uncertain significance (Oct 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701871
- GRCh38:
- Chr12:53308087
| AAAS | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701872
- GRCh38:
- Chr12:53308088
| AAAS | R399H, R432H | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53701879
- GRCh38:
- Chr12:53308095
| AAAS | L430F, L397F | Achalasia-alacrima syndrome | Pathogenic (Dec 1, 2008) | no assertion criteria provided |
| - GRCh37:
- Chr12:53701903
- GRCh38:
- Chr12:53308119
| AAAS | Q389E, Q422E | Inborn genetic diseases | Uncertain significance (Apr 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702058
- GRCh38:
- Chr12:53308274
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity (Jun 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702071
- GRCh38:
- Chr12:53308287
| AAAS | M415T, M382T | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance (Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702075
- GRCh38:
- Chr12:53308291
| AAAS | L381F, L414F | not provided | Uncertain significance (Aug 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702081
- GRCh38:
- Chr12:53308297
| AAAS | A412T, A379T | not provided | Uncertain significance (Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702086
- GRCh38:
- Chr12:53308302
| AAAS | R377H, R410H | Glucocorticoid deficiency with achalasia | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702087
- GRCh38:
- Chr12:53308303
| AAAS | R377C, R410C | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702092
- GRCh38:
- Chr12:53308308
| AAAS | G375E, G408E | Glucocorticoid deficiency with achalasia | Uncertain significance (May 25, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702123-53702124
- GRCh38:
- Chr12:53308339-53308340
| AAAS | E365fs, E398fs | Glucocorticoid deficiency with achalasia, not provided | Pathogenic (Jun 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702128
- GRCh38:
- Chr12:53308344
| AAAS | G363E, G396E | not provided | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702241
- GRCh38:
- Chr12:53308457
| AAAS | Q387*, Q354* | not provided | Pathogenic (Dec 1, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702245
- GRCh38:
- Chr12:53308461
| AAAS | | not provided | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702253-53702256
- GRCh38:
- Chr12:53308469-53308472
| AAAS | S349fs, S382fs | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic (Mar 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702264
- GRCh38:
- Chr12:53308480
| AAAS | A379V, A346V | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702287
- GRCh38:
- Chr12:53308503
| AAAS | | not provided | Likely benign (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702296
- GRCh38:
- Chr12:53308512
| AAAS | | not provided | Likely benign (Mar 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702371
- GRCh38:
- Chr12:53308587
| AAAS | | Glucocorticoid deficiency with achalasia, not provided | Benign (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702508
- GRCh38:
- Chr12:53308724
| AAAS | | Glucocorticoid deficiency with achalasia | Pathogenic (Nov 1, 2001) | no assertion criteria provided |
| - GRCh37:
- Chr12:53702509
- GRCh38:
- Chr12:53308725
| AAAS | G330S, G363S | Glucocorticoid deficiency with achalasia | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702516
- GRCh38:
- Chr12:53308732
| AAAS | E360D, E327D | Inborn genetic diseases, not provided | Uncertain significance (Apr 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702518
- GRCh38:
- Chr12:53308734
| AAAS | E360K, E327K | Inborn genetic diseases | Uncertain significance (Mar 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702526
- GRCh38:
- Chr12:53308742
| AAAS | S324F, S357F | not provided, Inborn genetic diseases, Glucocorticoid deficiency with achalasia
| Conflicting interpretations of pathogenicity (May 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702529-53702530
- GRCh38:
- Chr12:53308745-53308746
| AAAS | L356fs, L323fs | not provided | Pathogenic (Sep 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702538
- GRCh38:
- Chr12:53308754
| AAAS | I353T, I320T | not provided | Uncertain significance (Jan 5, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702561
- GRCh38:
- Chr12:53308777
| AAAS | | not provided | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702581
- GRCh38:
- Chr12:53308797
| AAAS | D306H, D339H | Inborn genetic diseases, not provided | Uncertain significance (Sep 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702724
- GRCh38:
- Chr12:53308940
| AAAS | | not provided | Benign (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702732
- GRCh38:
- Chr12:53308948
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Uncertain significance (Mar 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702749
- GRCh38:
- Chr12:53308965
| AAAS | C298R, C331R | not provided | Uncertain significance (Sep 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702752
- GRCh38:
- Chr12:53308968
| AAAS | R297C, R330C | Glucocorticoid deficiency with achalasia | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702759
- GRCh38:
- Chr12:53308975
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702759-53702760
- GRCh38:
- Chr12:53308975-53308976
| AAAS | S328fs, S295fs | Glucocorticoid deficiency with achalasia | Pathogenic (Nov 1, 2000) | no assertion criteria provided |
| - GRCh37:
- Chr12:53702798
- GRCh38:
- Chr12:53309014
| AAAS | W314C, W281C | not provided | Uncertain significance (Feb 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702801
- GRCh38:
- Chr12:53309017
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity (Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702802
- GRCh38:
- Chr12:53309018
| AAAS | V313A, V280A | Glucocorticoid deficiency with achalasia | Likely pathogenic (Sep 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702803-53702804
- GRCh38:
- Chr12:53309019-53309020
| AAAS | | Glucocorticoid deficiency with achalasia | Likely pathogenic (Apr 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702805
- GRCh38:
- Chr12:53309021
| AAAS | | not provided | Likely pathogenic (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702806
- GRCh38:
- Chr12:53309022
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702809
- GRCh38:
- Chr12:53309025
| AAAS | | Glucocorticoid deficiency with achalasia | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702942
- GRCh38:
- Chr12:53309158
| AAAS | R312*, R279* | not provided, Glucocorticoid deficiency with achalasia | Pathogenic/Likely pathogenic (Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53702964
- GRCh38:
- Chr12:53309180
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity (Jul 25, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702975
- GRCh38:
- Chr12:53309191
| AAAS | K268*, K301* | Glucocorticoid deficiency with achalasia | Pathogenic (Dec 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702982
- GRCh38:
- Chr12:53309198
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53702989
- GRCh38:
- Chr12:53309205
| AAAS | S263Y, S296Y | Glucocorticoid deficiency with achalasia | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702990-53702998
- GRCh38:
- Chr12:53309206-53309214
| AAAS | | not provided | Uncertain significance (Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702991
- GRCh38:
- Chr12:53309207
| AAAS | W295*, W262* | not provided | Pathogenic (Sep 21, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702994
- GRCh38:
- Chr12:53309210
| AAAS | | not provided | Benign (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53702996
- GRCh38:
- Chr12:53309212
| AAAS | L261F, L294F | Inborn genetic diseases | Uncertain significance (Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703020-53703021
- GRCh38:
- Chr12:53309236-53309237
| AAAS | R253*, R286* | not provided | Pathogenic (Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703020
- GRCh38:
- Chr12:53309236
| AAAS | R253*, R286* | not provided | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703021
- GRCh38:
- Chr12:53309237
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Benign (Oct 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:53703024
- GRCh38:
- Chr12:53309240
| AAAS | W251*, W284* | Glucocorticoid deficiency with achalasia | Pathogenic (Oct 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703029
- GRCh38:
- Chr12:53309245
| AAAS | P250S, P283S | Glucocorticoid deficiency with achalasia | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:53703033
- GRCh38:
- Chr12:53309249
| AAAS | | not provided, Glucocorticoid deficiency with achalasia | Conflicting interpretations of pathogenicity (Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:53703050
- GRCh38:
- Chr12:53309266
| AAAS | T276A, T243A | not provided | Uncertain significance (Oct 7, 2021) | criteria provided, single submitter |