| - 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:
- Chr12:48366784
- GRCh38:
- Chr12:47973001
| COL2A1 | | Stickler syndrome type 1, Type II Collagenopathies | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48366817
- GRCh38:
- Chr12:47973034
| COL2A1 | | Stickler syndrome type 1, Type II Collagenopathies | Uncertain significance (Mar 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48366859
- GRCh38:
- Chr12:47973076
| COL2A1 | | Stickler syndrome type 1, Type II Collagenopathies | Uncertain significance (Mar 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48366885
- GRCh38:
- Chr12:47973102
| COL2A1 | | Stickler syndrome type 1, Type II Collagenopathies | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48366895
- GRCh38:
- Chr12:47973112
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Benign (Jul 27, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48366955
- GRCh38:
- Chr12:47973172
| COL2A1 | | not provided | Likely benign (Apr 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367032
- GRCh38:
- Chr12:47973249
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367054
- GRCh38:
- Chr12:47973271
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Benign (Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367059
- GRCh38:
- Chr12:47973276
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367070
- GRCh38:
- Chr12:47973287
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367162
- GRCh38:
- Chr12:47973379
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Likely benign (Jun 14, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367186
- GRCh38:
- Chr12:47973403
| COL2A1 | | not specified, not provided, Stickler syndrome type 1, Connective tissue disorder, Type II Collagenopathies | Benign (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367190
- GRCh38:
- Chr12:47973407
| COL2A1 | | Stickler syndrome, type I, nonsyndromic ocular | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367192
- GRCh38:
- Chr12:47973409
| COL2A1 | | not provided | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367194-48367196
- GRCh38:
- Chr12:47973411-47973413
| COL2A1 | F1417del, F1486del | not provided | Likely pathogenic (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367201
- GRCh38:
- Chr12:47973418
| COL2A1 | C1485R, C1416R | not provided, Spondyloepiphyseal dysplasia congenita | Conflicting interpretations of pathogenicity (Aug 31, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367204-48367207
- GRCh38:
- Chr12:47973421-47973424
| COL2A1 | P1414fs, P1483fs | not provided | Pathogenic (Feb 5, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367205
- GRCh38:
- Chr12:47973422
| COL2A1 | | not specified, Connective tissue disorder, not provided
| Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367206
- GRCh38:
- Chr12:47973423
| COL2A1 | P1483L, P1414L | Type II Collagenopathies, Stickler syndrome type 1, not provided
| Conflicting interpretations of pathogenicity (Jul 10, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367210
- GRCh38:
- Chr12:47973427
| COL2A1 | G1413R, G1482R | not provided, Inborn genetic diseases | Uncertain significance (May 26, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367216
- GRCh38:
- Chr12:47973433
| COL2A1 | D1411N, D1480N | not provided | Likely benign (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367218
- GRCh38:
- Chr12:47973435
| COL2A1 | V1410A, V1479A | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Oct 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367222
- GRCh38:
- Chr12:47973439
| COL2A1 | G1409S, G1478S | not provided, Spondyloperipheral dysplasia | Conflicting interpretations of pathogenicity (Jul 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367223
- GRCh38:
- Chr12:47973440
| COL2A1 | | not provided | Likely benign (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367225
- GRCh38:
- Chr12:47973442
| COL2A1 | F1408L, F1477L | not provided | Uncertain significance (Jul 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367232
- GRCh38:
- Chr12:47973449
| COL2A1 | | not provided | Likely benign (Sep 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367234
- GRCh38:
- Chr12:47973451
| COL2A1 | E1405K, E1474K | not provided | Likely benign (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367235
- GRCh38:
- Chr12:47973452
| COL2A1 | | Achondrogenesis type II, Avascular necrosis of femoral head, primary, 1, Legg-Calve-Perthes disease, Kniest dysplasia, Multiple epiphyseal dysplasia, Beighton type, Namaqualand hip dysplasia, Stickler syndrome, type I, nonsyndromic ocular, Spondyloperipheral dysplasia, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe typeSpondyloepiphyseal dysplasia congenita, Vitreoretinopathy with phalangeal epiphyseal dysplasia, Spondyloepimetaphyseal dysplasia, Strudwick type, Czech dysplasia, metatarsal type, Spondyloepiphyseal dysplasia, Stanescu type, not provided, ...see more | Likely benign (Jun 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367238-48367241
- GRCh38:
- Chr12:47973455-47973458
| COL2A1 | G1403fs, G1472fs | Platyspondylic dysplasia, Torrance type | Pathogenic (Jan 1, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr12:48367239
- GRCh38:
- Chr12:47973456
| COL2A1 | G1472E, G1403E | not provided | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367240
- GRCh38:
- Chr12:47973457
| COL2A1 | G1472W, G1403W | not provided | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367240
- GRCh38:
- Chr12:47973457
| COL2A1 | G1472R, G1403R | not provided | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367245
- GRCh38:
- Chr12:47973462
| COL2A1 | I1401T, I1470T | not provided | Uncertain significance (Aug 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367246
- GRCh38:
- Chr12:47973463
| COL2A1 | I1401V, I1470V | not provided | Benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367247
- GRCh38:
- Chr12:47973464
| COL2A1 | | not provided | Likely benign (Dec 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367249
- GRCh38:
- Chr12:47973466
| COL2A1 | D1400Y, D1469Y | not provided | Pathogenic (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367257
- GRCh38:
- Chr12:47973474
| COL2A1 | A1397V, A1466V | not provided | Uncertain significance (May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367257
- GRCh38:
- Chr12:47973474
| COL2A1 | A1397E, A1466E | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367262
- GRCh38:
- Chr12:47973479
| COL2A1 | | not provided | Likely benign (Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367265
- GRCh38:
- Chr12:47973482
| COL2A1 | I1394M, I1463M | not provided | Conflicting interpretations of pathogenicity (Jul 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367265-48367267
- GRCh38:
- Chr12:47973482-47973484
| COL2A1 | I1463del, I1394del | Connective tissue disorder | Likely pathogenic (Dec 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367266
- GRCh38:
- Chr12:47973483
| COL2A1 | I1463T, I1394T | not provided | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367267
- GRCh38:
- Chr12:47973484
| COL2A1 | I1394V, I1463V | not provided | Uncertain significance (Jul 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367274
- GRCh38:
- Chr12:47973491
| COL2A1 | | not provided | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367276
- GRCh38:
- Chr12:47973493
| COL2A1 | L1391F, L1460F | not provided | Uncertain significance (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367278
- GRCh38:
- Chr12:47973495
| COL2A1 | R1390H, R1459H | not provided | Conflicting interpretations of pathogenicity (Jun 20, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367279
- GRCh38:
- Chr12:47973496
| COL2A1 | R1459C, R1390C | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Sep 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367291
- GRCh38:
- Chr12:47973508
| COL2A1 | Q1455*, Q1386* | not provided | Likely pathogenic (Aug 21, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367296
- GRCh38:
- Chr12:47973513
| COL2A1 | R1384Q, R1453Q | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367297
- GRCh38:
- Chr12:47973514
| COL2A1 | R1384W, R1453W | not provided | Benign (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367298
- GRCh38:
- Chr12:47973515
| COL2A1 | | not provided | Uncertain significance (Dec 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367299
- GRCh38:
- Chr12:47973516
| COL2A1 | Y1383C, Y1452C | Inborn genetic diseases, not provided | Uncertain significance (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367303
- GRCh38:
- Chr12:47973520
| COL2A1 | E1382K, E1451K | not provided | Likely benign (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367304
- GRCh38:
- Chr12:47973521
| COL2A1 | | not provided, Type II Collagenopathies, Stickler syndrome type 1
| Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367306
- GRCh38:
- Chr12:47973523
| COL2A1 | I1381V, I1450V | not provided | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367308-48367309
- GRCh38:
- Chr12:47973525-47973526
| COL2A1 | V1380fs, V1449fs | Achondrogenesis type II | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367310
- GRCh38:
- Chr12:47973527
| COL2A1 | | Connective tissue disorder, not specified, Type II Collagenopathies, not provided, Stickler syndrome type 1, Achondrogenesis type II, Spondyloperipheral dysplasia, Avascular necrosis of femoral head, primary, 1, Stickler syndrome, type I, nonsyndromic ocular, Spondyloepiphyseal dysplasia, Stanescu type, Namaqualand hip dysplasiaCzech dysplasia, metatarsal type, Spondyloepimetaphyseal dysplasia, Strudwick type, Multiple epiphyseal dysplasia, Beighton type, Spondyloepiphyseal dysplasia congenita, Legg-Calve-Perthes disease, Kniest dysplasia, Stickler syndrome type 1, Platyspondylic dysplasia, Torrance type, Spondylometaphyseal dysplasia - Sutcliffe type, Vitreoretinopathy with phalangeal epiphyseal dysplasia, ...see more | Benign/Likely benign (Oct 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367311
- GRCh38:
- Chr12:47973528
| COL2A1 | T1379I, T1448I | not provided | Uncertain significance (Nov 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367311
- GRCh38:
- Chr12:47973528
| COL2A1 | T1448S, T1379S | not provided, Stickler syndrome type 1 | Uncertain significance (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367314
- GRCh38:
- Chr12:47973531
| COL2A1 | K1447R, K1378R | not provided | Likely benign (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367317
- GRCh38:
- Chr12:47973534
| COL2A1 | G1377fs, G1446fs | Spondyloperipheral dysplasia | Pathogenic (Aug 30, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr12:48367324-48367328
- GRCh38:
- Chr12:47973541-47973545
| COL2A1 | G1374fs, G1443fs | not provided | Likely pathogenic (Nov 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367326
- GRCh38:
- Chr12:47973543
| COL2A1 | G1374D, G1443D | not provided | Uncertain significance (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367326
- GRCh38:
- Chr12:47973543
| COL2A1 | G1374fs, G1443fs | not provided | Pathogenic (Mar 1, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367327
- GRCh38:
- Chr12:47973544
| COL2A1 | G1443S, G1374S | Connective tissue disorder, not specified, not provided
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367328
- GRCh38:
- Chr12:47973545
| COL2A1 | | not provided | Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367329
- GRCh38:
- Chr12:47973546
| COL2A1 | T1373N, T1442N | not provided | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367330-48367331
- GRCh38:
- Chr12:47973547-47973548
| COL2A1 | T1373fs, T1442fs | not provided | Pathogenic (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367336
- GRCh38:
- Chr12:47973553
| COL2A1 | K1371E, K1440E | not provided | Uncertain significance (Jan 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367340
- GRCh38:
- Chr12:47973557
| COL2A1 | | not provided | Likely benign (Jul 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367342
- GRCh38:
- Chr12:47973559
| COL2A1 | | not provided | Likely benign (Sep 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367350-48367352
- GRCh38:
- Chr12:47973567-47973569
| COL2A1 | | not provided | Likely benign (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367351-48367353
- GRCh38:
- Chr12:47973568-47973570
| COL2A1 | | not provided | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367351-48367367
- GRCh38:
- Chr12:47973568-47973584
| COL2A1 | | not provided | Likely benign (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367353
- GRCh38:
- Chr12:47973570
| COL2A1 | | not provided | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367427
- GRCh38:
- Chr12:47973644
| COL2A1 | | not specified, not provided | Benign (Sep 5, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367466
- GRCh38:
- Chr12:47973683
| COL2A1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367557
- GRCh38:
- Chr12:47973774
| COL2A1 | | not provided | Likely benign (Aug 3, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367829
- GRCh38:
- Chr12:47974046
| COL2A1 | | not specified, not provided | Benign (Jun 23, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:48367857
- GRCh38:
- Chr12:47974074
| COL2A1 | | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367859
- GRCh38:
- Chr12:47974076
| COL2A1 | | not provided | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367863
- GRCh38:
- Chr12:47974080
| COL2A1 | | Type II Collagenopathies, Stickler syndrome type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367864
- GRCh38:
- Chr12:47974081
| COL2A1 | | not provided | Likely benign (Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367870
- GRCh38:
- Chr12:47974087
| COL2A1 | | not provided | Pathogenic (Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367871
- GRCh38:
- Chr12:47974088
| COL2A1 | | Connective tissue disorder | Likely pathogenic (Jun 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367871
- GRCh38:
- Chr12:47974088
| COL2A1 | | not provided | Pathogenic (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367871
- GRCh38:
- Chr12:47974088
| COL2A1 | | Stickler syndrome type 1 | Pathogenic (Feb 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367872
- GRCh38:
- Chr12:47974089
| COL2A1 | | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367873
- GRCh38:
- Chr12:47974090
| COL2A1 | T1370M, T1439M | Spondyloepiphyseal dysplasia congenita, not provided, Spondyloperipheral dysplasia
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367875-48367876
- GRCh38:
- Chr12:47974092-47974093
| COL2A1 | C1438fs, C1369fs | not provided | Pathogenic (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367875
- GRCh38:
- Chr12:47974092
| COL2A1 | C1438*, C1369* | Spondyloperipheral dysplasia | Pathogenic (Aug 30, 2004) | no assertion criteria provided |
| - GRCh37:
- Chr12:48367883
- GRCh38:
- Chr12:47974100
| COL2A1 | D1436N, D1367N | not provided | Uncertain significance (Oct 31, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367886
- GRCh38:
- Chr12:47974103
| COL2A1 | K1435*, K1366* | not provided | Pathogenic (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367890
- GRCh38:
- Chr12:47974107
| COL2A1 | | not provided | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367896
- GRCh38:
- Chr12:47974113
| COL2A1 | Y1362*, Y1431* | not provided | Pathogenic (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367897-48367898
- GRCh38:
- Chr12:47974114-47974115
| COL2A1 | Y1362fs, Y1431fs | Spondyloperipheral dysplasia | Pathogenic (May 3, 1996) | no assertion criteria provided |
| - GRCh37:
- Chr12:48367898
- GRCh38:
- Chr12:47974115
| COL2A1 | Y1362H, Y1431H | not provided | Uncertain significance (Dec 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr12:48367899
- GRCh38:
- Chr12:47974116
| COL2A1 | | not provided | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr12:48367900
- GRCh38:
- Chr12:47974117
| COL2A1 | T1361M, T1430M | not provided, not specified | Conflicting interpretations of pathogenicity (Nov 3, 2022) | criteria provided, conflicting interpretations |