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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr12:53245634-53952608
GRCh38:
Chr12:52851850-53558824
See casesLikely pathogenic
(Mar 9, 2012)
no assertion criteria provided
3.
GRCh37:
Chr12:53493442-54118309
GRCh38:
Chr12:53099658-53724525
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr12:53617808-54616234
GRCh38:
Chr12:53224024-54222450
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh38:
Chr12:53306793-53321761
MYG1, AAASGlucocorticoid deficiency with achalasiaPathogenic
(Mar 7, 2019)
no assertion criteria provided
6.
GRCh37:
Chr12:53701054
GRCh38:
Chr12:53307270
AAASnot providedBenign
(May 10, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr12:53701104
GRCh38:
Chr12:53307320
AAASnot providedBenign
(May 8, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr12:53701241
GRCh38:
Chr12:53307457
AAASGlucocorticoid deficiency with achalasiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr12:53701263-53701266
GRCh38:
Chr12:53307479-53307482
AAASnot providedLikely benign
(Nov 16, 2020)
criteria provided, single submitter
10.
GRCh37:
Chr12:53701279
GRCh38:
Chr12:53307495
AAASnot providedLikely benign
(Jun 5, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr12:53701316
GRCh38:
Chr12:53307532
AAASG500E, G533Enot providedUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr12:53701317
GRCh38:
Chr12:53307533
AAASG533R, G500Rnot provided, Glucocorticoid deficiency with achalasiaBenign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:53701323
GRCh38:
Chr12:53307539
AAASL531F, L498FGlucocorticoid deficiency with achalasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr12:53701333
GRCh38:
Chr12:53307549
AAASnot providedLikely benign
(Jul 10, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr12:53701337
GRCh38:
Chr12:53307553
AAASA526G, A493GInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr12:53701348
GRCh38:
Chr12:53307564
AAASGlucocorticoid deficiency with achalasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr12:53701357
GRCh38:
Chr12:53307573
AAASnot provided, Glucocorticoid deficiency with achalasiaBenign/Likely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr12:53701359
GRCh38:
Chr12:53307575
AAAST486P, T519Pnot providedUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:53701360
GRCh38:
Chr12:53307576
AAASF485L, F518Lnot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:53701397
GRCh38:
Chr12:53307613
AAASA506G, A473Gnot providedUncertain significance
(Jul 16, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr12:53701399
GRCh38:
Chr12:53307615
AAASnot provided, Glucocorticoid deficiency with achalasiaBenign/Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr12:53701416
GRCh38:
Chr12:53307632
AAASR500W, R467WGlucocorticoid deficiency with achalasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
23.
GRCh37:
Chr12:53701435
GRCh38:
Chr12:53307651
AAASnot providedLikely benign
(Dec 14, 2017)
criteria provided, single submitter
24.
GRCh37:
Chr12:53701436
GRCh38:
Chr12:53307652
AAASR460H, R493HInborn genetic diseasesUncertain significance
(Jul 15, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr12:53701464
GRCh38:
Chr12:53307680
AAASL484V, L451VGlucocorticoid deficiency with achalasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr12:53701466
GRCh38:
Chr12:53307682
AAASP450fs, P483fsGlucocorticoid deficiency with achalasiaUncertain significance
(Sep 14, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr12:53701466
GRCh38:
Chr12:53307682
AAASP483L, P450Lnot provided, Glucocorticoid deficiency with achalasiaUncertain significance
(Jan 5, 2022)
criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr12:53701481
GRCh38:
Chr12:53307697
AAASR445L, R478Lnot providedUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr12:53701481
GRCh38:
Chr12:53307697
AAASR445P, R478PInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr12:53701482
GRCh38:
Chr12:53307698
AAASR478*, R445*Neurodevelopmental disorder, not provided, Glucocorticoid deficiency with achalasia
Pathogenic
(May 12, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr12:53701511
GRCh38:
Chr12:53307727
AAASnot providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr12:53701511
GRCh38:
Chr12:53307727
AAASGlucocorticoid deficiency with achalasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr12:53701621
GRCh38:
Chr12:53307837
AAASGlucocorticoid deficiency with achalasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
34.
GRCh37:
Chr12:53701669
GRCh38:
Chr12:53307885
AAAST459I, T426Inot providedUncertain significance
(Oct 28, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr12:53701681
GRCh38:
Chr12:53307897
AAASP422L, P455LInborn genetic diseasesUncertain significance
(Oct 6, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:53701686-53701687
GRCh38:
Chr12:53307902-53307903
AAASQ421fs, Q454fsGlucocorticoid deficiency with achalasiaPathogenic
(May 4, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:53701715
GRCh38:
Chr12:53307931
AAASnot providedPathogenic
(Apr 17, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr12:53701835
GRCh38:
Chr12:53308051
AAASGlucocorticoid deficiency with achalasia, not providedPathogenic
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr12:53701856
GRCh38:
Chr12:53308072
AAASnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr12:53701860
GRCh38:
Chr12:53308076
AAASS403N, S436NInborn genetic diseasesUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr12:53701866
GRCh38:
Chr12:53308082
AAASR434Q, R401Qnot provided, Glucocorticoid deficiency with achalasiaConflicting interpretations of pathogenicity
(Sep 12, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr12:53701867
GRCh38:
Chr12:53308083
AAASR434*, R401*Glucocorticoid deficiency with achalasiaUncertain significance
(Oct 3, 2017)
criteria provided, single submitter
43.
GRCh37:
Chr12:53701871
GRCh38:
Chr12:53308087
AAASnot providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr12:53701872
GRCh38:
Chr12:53308088
AAASR399H, R432Hnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr12:53701879
GRCh38:
Chr12:53308095
AAASL430F, L397FAchalasia-alacrima syndromePathogenic
(Dec 1, 2008)
no assertion criteria provided
46.
GRCh37:
Chr12:53701903
GRCh38:
Chr12:53308119
AAASQ389E, Q422EInborn genetic diseasesUncertain significance
(Apr 18, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr12:53702058
GRCh38:
Chr12:53308274
AAASnot provided, Glucocorticoid deficiency with achalasiaConflicting interpretations of pathogenicity
(Jun 20, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr12:53702071
GRCh38:
Chr12:53308287
AAASM415T, M382Tnot provided, Glucocorticoid deficiency with achalasiaUncertain significance
(Jul 23, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:53702075
GRCh38:
Chr12:53308291
AAASL381F, L414Fnot providedUncertain significance
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr12:53702081
GRCh38:
Chr12:53308297
AAASA412T, A379Tnot providedUncertain significance
(Jan 2, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:53702086
GRCh38:
Chr12:53308302
AAASR377H, R410HGlucocorticoid deficiency with achalasiaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr12:53702087
GRCh38:
Chr12:53308303
AAASR377C, R410Cnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr12:53702092
GRCh38:
Chr12:53308308
AAASG375E, G408EGlucocorticoid deficiency with achalasiaUncertain significance
(May 25, 2020)
criteria provided, single submitter
54.
GRCh37:
Chr12:53702123-53702124
GRCh38:
Chr12:53308339-53308340
AAASE365fs, E398fsGlucocorticoid deficiency with achalasia, not providedPathogenic
(Jun 26, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr12:53702128
GRCh38:
Chr12:53308344
AAASG363E, G396Enot providedUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr12:53702241
GRCh38:
Chr12:53308457
AAASQ387*, Q354*not providedPathogenic
(Dec 1, 2019)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr12:53702245
GRCh38:
Chr12:53308461
AAASnot providedLikely benign
(Mar 26, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:53702253-53702256
GRCh38:
Chr12:53308469-53308472
AAASS349fs, S382fsnot provided, Glucocorticoid deficiency with achalasiaPathogenic/Likely pathogenic
(Mar 10, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr12:53702264
GRCh38:
Chr12:53308480
AAASA379V, A346VInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr12:53702287
GRCh38:
Chr12:53308503
AAASnot providedLikely benign
(Apr 4, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr12:53702296
GRCh38:
Chr12:53308512
AAASnot providedLikely benign
(Mar 13, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:53702371
GRCh38:
Chr12:53308587
AAASGlucocorticoid deficiency with achalasia, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr12:53702508
GRCh38:
Chr12:53308724
AAASGlucocorticoid deficiency with achalasiaPathogenic
(Nov 1, 2001)
no assertion criteria provided
64.
GRCh37:
Chr12:53702509
GRCh38:
Chr12:53308725
AAASG330S, G363SGlucocorticoid deficiency with achalasiaUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr12:53702516
GRCh38:
Chr12:53308732
AAASE360D, E327DInborn genetic diseases, not providedUncertain significance
(Apr 4, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr12:53702518
GRCh38:
Chr12:53308734
AAASE360K, E327KInborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr12:53702526
GRCh38:
Chr12:53308742
AAASS324F, S357Fnot provided, Inborn genetic diseases, Glucocorticoid deficiency with achalasia
Conflicting interpretations of pathogenicity
(May 9, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:53702529-53702530
GRCh38:
Chr12:53308745-53308746
AAASL356fs, L323fsnot providedPathogenic
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr12:53702538
GRCh38:
Chr12:53308754
AAASI353T, I320Tnot providedUncertain significance
(Jan 5, 2016)
criteria provided, single submitter
70.
GRCh37:
Chr12:53702561
GRCh38:
Chr12:53308777
AAASnot providedLikely benign
(Oct 14, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr12:53702581
GRCh38:
Chr12:53308797
AAASD306H, D339HInborn genetic diseases, not providedUncertain significance
(Sep 28, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr12:53702724
GRCh38:
Chr12:53308940
AAASnot providedBenign
(Sep 21, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr12:53702732
GRCh38:
Chr12:53308948
AAASnot provided, Glucocorticoid deficiency with achalasiaUncertain significance
(Mar 4, 2021)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr12:53702749
GRCh38:
Chr12:53308965
AAASC298R, C331Rnot providedUncertain significance
(Sep 16, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:53702752
GRCh38:
Chr12:53308968
AAASR297C, R330CGlucocorticoid deficiency with achalasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr12:53702759
GRCh38:
Chr12:53308975
AAASGlucocorticoid deficiency with achalasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr12:53702759-53702760
GRCh38:
Chr12:53308975-53308976
AAASS328fs, S295fsGlucocorticoid deficiency with achalasiaPathogenic
(Nov 1, 2000)
no assertion criteria provided
78.
GRCh37:
Chr12:53702798
GRCh38:
Chr12:53309014
AAASW314C, W281Cnot providedUncertain significance
(Feb 29, 2016)
criteria provided, single submitter
79.
GRCh37:
Chr12:53702801
GRCh38:
Chr12:53309017
AAASnot provided, Glucocorticoid deficiency with achalasiaConflicting interpretations of pathogenicity
(Sep 13, 2022)
criteria provided, conflicting interpretations
80.
GRCh37:
Chr12:53702802
GRCh38:
Chr12:53309018
AAASV313A, V280AGlucocorticoid deficiency with achalasiaLikely pathogenic
(Sep 8, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr12:53702803-53702804
GRCh38:
Chr12:53309019-53309020
AAASGlucocorticoid deficiency with achalasiaLikely pathogenic
(Apr 27, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr12:53702805
GRCh38:
Chr12:53309021
AAASnot providedLikely pathogenic
(Mar 11, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr12:53702806
GRCh38:
Chr12:53309022
AAASGlucocorticoid deficiency with achalasiaUncertain significance
(Nov 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr12:53702809
GRCh38:
Chr12:53309025
AAASGlucocorticoid deficiency with achalasiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr12:53702942
GRCh38:
Chr12:53309158
AAASR312*, R279*not provided, Glucocorticoid deficiency with achalasiaPathogenic/Likely pathogenic
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr12:53702964
GRCh38:
Chr12:53309180
AAASnot provided, Glucocorticoid deficiency with achalasiaConflicting interpretations of pathogenicity
(Jul 25, 2017)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr12:53702975
GRCh38:
Chr12:53309191
AAASK268*, K301*Glucocorticoid deficiency with achalasiaPathogenic
(Dec 7, 2020)
criteria provided, single submitter
88.
GRCh37:
Chr12:53702982
GRCh38:
Chr12:53309198
AAASnot provided, Glucocorticoid deficiency with achalasiaConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr12:53702989
GRCh38:
Chr12:53309205
AAASS263Y, S296YGlucocorticoid deficiency with achalasiaPathogenic
(May 4, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr12:53702990-53702998
GRCh38:
Chr12:53309206-53309214
AAASnot providedUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr12:53702991
GRCh38:
Chr12:53309207
AAASW295*, W262*not providedPathogenic
(Sep 21, 2015)
criteria provided, single submitter
92.
GRCh37:
Chr12:53702994
GRCh38:
Chr12:53309210
AAASnot providedBenign
(Aug 30, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr12:53702996
GRCh38:
Chr12:53309212
AAASL261F, L294FInborn genetic diseasesUncertain significance
(Feb 16, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr12:53703020-53703021
GRCh38:
Chr12:53309236-53309237
AAASR253*, R286*not providedPathogenic
(Sep 23, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:53703020
GRCh38:
Chr12:53309236
AAASR253*, R286*not providedPathogenic
(Sep 1, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr12:53703021
GRCh38:
Chr12:53309237
AAASnot provided, Glucocorticoid deficiency with achalasiaBenign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:53703024
GRCh38:
Chr12:53309240
AAASW251*, W284*Glucocorticoid deficiency with achalasiaPathogenic
(Oct 18, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr12:53703029
GRCh38:
Chr12:53309245
AAASP250S, P283SGlucocorticoid deficiency with achalasiaUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr12:53703033
GRCh38:
Chr12:53309249
AAASnot provided, Glucocorticoid deficiency with achalasiaConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr12:53703050
GRCh38:
Chr12:53309266
AAAST276A, T243Anot providedUncertain significance
(Oct 7, 2021)
criteria provided, single submitter
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