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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:
Chr12:53814390-56596726
GRCh38:
Chr12:53420606-56202942
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
3.
GRCh38:
Chr12:55986511-56885590
not specifiedUncertain significance
(May 25, 2021)
criteria provided, single submitter
4.
GRCh37:
Chr12:56424828-56445284
GRCh38:
Chr12:56031044-56051500
IKZF4, LOC116268441, RPS26Diamond-Blackfan anemia 10Pathogenic
(Nov 1, 2013)
no assertion criteria provided
5.
GRCh37:
Chr12:56435412
GRCh38:
Chr12:56041628
RPS26not providedBenign
(Jun 29, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr12:56435742
GRCh38:
Chr12:56041958
RPS26Diamond-Blackfan anemia 10Benign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr12:56435802
GRCh38:
Chr12:56042018
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr12:56435821
GRCh38:
Chr12:56042037
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr12:56435850
GRCh38:
Chr12:56042066
RPS26not providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
10.
GRCh37:
Chr12:56435871
GRCh38:
Chr12:56042087
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr12:56435916
GRCh38:
Chr12:56042132
RPS26not specified, Diamond-Blackfan anemia 10Benign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr12:56435918
GRCh38:
Chr12:56042134
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr12:56435920
GRCh38:
Chr12:56042136
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr12:56435920
GRCh38:
Chr12:56042136
RPS26not specified, Diamond-Blackfan anemia 10Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr12:56435924
GRCh38:
Chr12:56042140
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr12:56435926
GRCh38:
Chr12:56042142
RPS26Diamond-Blackfan anemia 10Benign
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr12:56435929
GRCh38:
Chr12:56042145
RPS26not specified, Diamond-Blackfan anemia 10Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr12:56435942
GRCh38:
Chr12:56042158
RPS26Diamond-Blackfan anemia 10Likely benign
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr12:56435948
GRCh38:
Chr12:56042164
RPS26not specified, Diamond-Blackfan anemia 10Benign/Likely benign
(May 4, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:56435950
GRCh38:
Chr12:56042166
RPS26not specifiedUncertain significance
(Dec 8, 2020)
criteria provided, single submitter
21.
GRCh37:
Chr12:56435951
GRCh38:
Chr12:56042167
RPS26M1LBone marrow hypocellularity, See casesPathogenic
(Dec 21, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:56435951
GRCh38:
Chr12:56042167
RPS26M1Lnot providedPathogenic
(Nov 1, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr12:56435951
GRCh38:
Chr12:56042167
RPS26M1Vnot provided, Congenital hypoplastic anemia, Diamond-Blackfan anemia 10
Pathogenic
(Apr 24, 2023)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr12:56435952
GRCh38:
Chr12:56042168
RPS26M1TCongenital hypoplastic anemiaPathogenic
(Dec 1, 2015)
criteria provided, single submitter
25.
GRCh37:
Chr12:56435952
GRCh38:
Chr12:56042168
RPS26M1RDiamond-Blackfan anemia 10Pathogenic
(Oct 5, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr12:56435954
GRCh38:
Chr12:56042170
RPS26Congenital hypoplastic anemia, Diamond-Blackfan anemia 10Pathogenic/Likely pathogenic
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr12:56435954
GRCh38:
Chr12:56042170
RPS26Diamond-Blackfan anemia 10Pathogenic
(Feb 12, 2010)
no assertion criteria provided
28.
GRCh37:
Chr12:56435955
GRCh38:
Chr12:56042171
RPS26Diamond-Blackfan anemia 10Likely pathogenic
(Oct 5, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:56435957
GRCh38:
Chr12:56042173
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Aug 4, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr12:56435959
GRCh38:
Chr12:56042175
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Nov 19, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr12:56435960
GRCh38:
Chr12:56042176
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 10, 2021)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr12:56435960
GRCh38:
Chr12:56042176
RPS26Diamond-Blackfan anemia 10Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr12:56435962
GRCh38:
Chr12:56042178
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 18, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:56435963
GRCh38:
Chr12:56042179
RPS26Diamond-Blackfan anemia 10Likely benign
(Jul 9, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:56435965
GRCh38:
Chr12:56042181
RPS26Diamond-Blackfan anemia 10Likely benign
(May 22, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:56435966
GRCh38:
Chr12:56042182
RPS26Diamond-Blackfan anemia 10Likely benign
(Oct 17, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr12:56435967
GRCh38:
Chr12:56042183
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 25, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr12:56435967
GRCh38:
Chr12:56042183
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 15, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr12:56435967
GRCh38:
Chr12:56042183
RPS26Diamond-Blackfan anemia 10Likely benign
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr12:56435973
GRCh38:
Chr12:56042189
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 18, 2022)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr12:56436111
GRCh38:
Chr12:56042327
RPS26not providedBenign
(Sep 11, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr12:56436196
GRCh38:
Chr12:56042412
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 4, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr12:56436202
GRCh38:
Chr12:56042418
RPS26Diamond-Blackfan anemia 10Likely benign
(May 18, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr12:56436205
GRCh38:
Chr12:56042421
RPS26Congenital hypoplastic anemia, Diamond-Blackfan anemia 10Conflicting interpretations of pathogenicity
(Jan 14, 2022)
criteria provided, conflicting interpretations
45.
GRCh37:
Chr12:56436207
GRCh38:
Chr12:56042423
RPS26Diamond-Blackfan anemia 15 with mandibulofacial dysostosisPathogenic
(May 19, 2015)
criteria provided, single submitter
46.
GRCh37:
Chr12:56436211-56436214
GRCh38:
Chr12:56042427-56042430
RPS26K4fsCongenital hypoplastic anemia, Diamond-Blackfan anemia 10Pathogenic
(Jan 22, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr12:56436223
GRCh38:
Chr12:56042439
RPS26not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr12:56436235-56436236
GRCh38:
Chr12:56042451-56042452
RPS26A11fsDiamond-Blackfan anemia 10Pathogenic
(Feb 12, 2010)
no assertion criteria provided
49.
GRCh37:
Chr12:56436247
GRCh38:
Chr12:56042463
RPS26not specifiedUncertain significance
(Dec 9, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr12:56436260
GRCh38:
Chr12:56042476
RPS26Q19*Diamond-Blackfan anemia 10Pathogenic
(Mar 27, 2018)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr12:56436265
GRCh38:
Chr12:56042481
RPS26Diamond-Blackfan anemia 10Likely benign
(Oct 13, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:56436266
GRCh38:
Chr12:56042482
RPS26I21LDiamond-Blackfan anemia 10Uncertain significance
(Jun 29, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr12:56436268
GRCh38:
Chr12:56042484
RPS26not provided, Diamond-Blackfan anemia 10Likely benign
(Sep 15, 2021)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:56436269
GRCh38:
Chr12:56042485
RPS26R22GDiamond-Blackfan anemia 10Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr12:56436272
GRCh38:
Chr12:56042488
RPS26C23RCongenital hypoplastic anemiaUncertain significance
(Feb 10, 2015)
criteria provided, single submitter
56.
GRCh37:
Chr12:56436274
GRCh38:
Chr12:56042490
RPS26Diamond-Blackfan anemia 10Likely benign
(Jun 6, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr12:56436275
GRCh38:
Chr12:56042491
RPS26T24ADiamond-Blackfan anemia 10Uncertain significance
(Dec 1, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr12:56436275-56436278
GRCh38:
Chr12:56042491-56042494
RPS26N25fsCongenital hypoplastic anemia, Diamond-Blackfan anemia 10Pathogenic/Likely pathogenic
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr12:56436281-56436282
GRCh38:
Chr12:56042497-56042498
RPS26A27fsDiamond-Blackfan anemia 10Pathogenic
(Aug 27, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:56436286
GRCh38:
Chr12:56042502
RPS26Diamond-Blackfan anemia 10Likely benign
(May 20, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr12:56436293
GRCh38:
Chr12:56042509
RPS26V30fsCongenital hypoplastic anemiaPathogenic
(Oct 24, 2014)
criteria provided, single submitter
62.
GRCh37:
Chr12:56436298
GRCh38:
Chr12:56042514
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 8, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:56436298
GRCh38:
Chr12:56042514
RPS26Congenital hypoplastic anemia, Diamond-Blackfan anemia 10, not specified
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr12:56436301
GRCh38:
Chr12:56042517
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Nov 14, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr12:56436302
GRCh38:
Chr12:56042518
RPS26D33NDiamond-Blackfan anemia 10Pathogenic
(Feb 12, 2010)
no assertion criteria provided
66.
GRCh37:
Chr12:56436349
GRCh38:
Chr12:56042565
RPS26Diamond-Blackfan anemia 10Likely benign
(Feb 20, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:56436349
GRCh38:
Chr12:56042565
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 25, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr12:56436362
GRCh38:
Chr12:56042578
RPS26I53VDiamond-Blackfan anemia 10Uncertain significance
(Mar 5, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr12:56436375
GRCh38:
Chr12:56042591
RPS26S57NDiamond-Blackfan anemia 10Uncertain significance
(Aug 5, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:56436386
GRCh38:
Chr12:56042602
RPS26Diamond-Blackfan anemia 10Pathogenic
(Feb 19, 2020)
no assertion criteria provided
71.
GRCh37:
Chr12:56436387
GRCh38:
Chr12:56042603
RPS26Diamond-Blackfan anemia 10Likely pathogenic
(Dec 8, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr12:56436391-56436392
GRCh38:
Chr12:56042607-56042608
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Feb 24, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:56436392
GRCh38:
Chr12:56042608
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Aug 10, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr12:56436394
GRCh38:
Chr12:56042610
RPS26Diamond-Blackfan anemia 10Likely benign
(Sep 6, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:56436396
GRCh38:
Chr12:56042612
RPS26Diamond-Blackfan anemia 10Likely benign
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr12:56436405
GRCh38:
Chr12:56042621
RPS26Diamond-Blackfan anemia 10Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr12:56436472
GRCh38:
Chr12:56042688
RPS26not providedBenign
(Jun 29, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr12:56436917
GRCh38:
Chr12:56043133
RPS26not providedLikely benign
(Aug 13, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr12:56437118
GRCh38:
Chr12:56043334
RPS26not providedLikely benign
(Jun 1, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr12:56437127
GRCh38:
Chr12:56043343
RPS26Diamond-Blackfan anemia 10Likely benign
(Dec 17, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr12:56437129-56437141
GRCh38:
Chr12:56043345-56043357
RPS26Diamond-Blackfan anemia 10Uncertain significance
(May 2, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr12:56437148
GRCh38:
Chr12:56043364
RPS26Diamond-Blackfan anemia 10Likely benign
(Jun 27, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr12:56437161
GRCh38:
Chr12:56043377
RPS26K66*Diamond-Blackfan anemia 10Pathogenic
(May 22, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr12:56437166
GRCh38:
Chr12:56043382
RPS26Diamond-Blackfan anemia 10Likely benign
(Nov 29, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr12:56437172
GRCh38:
Chr12:56043388
RPS26Diamond-Blackfan anemia 10Likely benign
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr12:56437184
GRCh38:
Chr12:56043400
RPS26Y73*not providedPathogenic
(Jan 3, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr12:56437185-56437186
GRCh38:
Chr12:56043401-56043402
RPS26V75fsDiamond-Blackfan anemia 10Pathogenic/Likely pathogenic
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:56437186
GRCh38:
Chr12:56043402
RPS26C74YCongenital hypoplastic anemiaLikely pathogenic
(Nov 1, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr12:56437224
GRCh38:
Chr12:56043440
RPS26R87*Diamond-Blackfan anemia 15 with mandibulofacial dysostosis, Congenital hypoplastic anemia, Diamond-Blackfan anemia 10
Pathogenic
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr12:56437231
GRCh38:
Chr12:56043447
RPS26R89HDiamond-Blackfan anemia 10Uncertain significance
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr12:56437231
GRCh38:
Chr12:56043447
RPS26R89Pnot specified, Diamond-Blackfan anemia 10Uncertain significance
(Aug 4, 2019)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr12:56437235
GRCh38:
Chr12:56043451
RPS26Diamond-Blackfan anemia 10Likely benign
(Jul 19, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr12:56437239
GRCh38:
Chr12:56043455
RPS26R92CDiamond-Blackfan anemia 10Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr12:56437253
GRCh38:
Chr12:56043469
RPS26Diamond-Blackfan anemia 10Likely benign
(Mar 30, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:56437256
GRCh38:
Chr12:56043472
RPS26Diamond-Blackfan anemia 10Likely benign
(Apr 24, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr12:56437277
GRCh38:
Chr12:56043493
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr12:56437278
GRCh38:
Chr12:56043494
RPS26Congenital hypoplastic anemiaLikely pathogenic
(Dec 11, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr12:56437279
GRCh38:
Chr12:56043495
RPS26Pure red-cell aplasia, AnemiaLikely pathogenicno assertion criteria provided
99.
GRCh37:
Chr12:56437280
GRCh38:
Chr12:56043496
RPS26Diamond-Blackfan anemia 10Uncertain significance
(Oct 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:56437304
GRCh38:
Chr12:56043520
RPS26not providedBenign
(Jan 27, 2020)
criteria provided, single submitter
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