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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:
Chr12:48366784
GRCh38:
Chr12:47973001
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr12:48366817
GRCh38:
Chr12:47973034
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Mar 30, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr12:48366859
GRCh38:
Chr12:47973076
COL2A1Stickler syndrome type 1, Type II CollagenopathiesUncertain significance
(Mar 2, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr12:48366885
GRCh38:
Chr12:47973102
COL2A1Stickler syndrome type 1, Type II CollagenopathiesConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
6.
GRCh37:
Chr12:48366895
GRCh38:
Chr12:47973112
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Benign
(Jul 27, 2018)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr12:48366955
GRCh38:
Chr12:47973172
COL2A1not providedLikely benign
(Apr 30, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr12:48367032
GRCh38:
Chr12:47973249
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr12:48367054
GRCh38:
Chr12:47973271
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr12:48367059
GRCh38:
Chr12:47973276
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr12:48367070
GRCh38:
Chr12:47973287
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr12:48367162
GRCh38:
Chr12:47973379
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Likely benign
(Jun 14, 2018)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr12:48367186
GRCh38:
Chr12:47973403
COL2A1not specified, not provided, Stickler syndrome type 1,
Connective tissue disorder, Type II Collagenopathies
Benign
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr12:48367190
GRCh38:
Chr12:47973407
COL2A1Stickler syndrome, type I, nonsyndromic ocularUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr12:48367192
GRCh38:
Chr12:47973409
COL2A1not providedUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr12:48367194-48367196
GRCh38:
Chr12:47973411-47973413
COL2A1F1417del, F1486delnot providedLikely pathogenic
(Oct 17, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr12:48367201
GRCh38:
Chr12:47973418
COL2A1C1485R, C1416Rnot provided, Spondyloepiphyseal dysplasia congenitaConflicting interpretations of pathogenicity
(Aug 31, 2021)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr12:48367204-48367207
GRCh38:
Chr12:47973421-47973424
COL2A1P1414fs, P1483fsnot providedPathogenic
(Feb 5, 2015)
criteria provided, single submitter
19.
GRCh37:
Chr12:48367205
GRCh38:
Chr12:47973422
COL2A1not specified, Connective tissue disorder, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr12:48367206
GRCh38:
Chr12:47973423
COL2A1P1483L, P1414LType II Collagenopathies, Stickler syndrome type 1, not provided
Conflicting interpretations of pathogenicity
(Jul 10, 2019)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr12:48367210
GRCh38:
Chr12:47973427
COL2A1G1413R, G1482Rnot provided, Inborn genetic diseasesUncertain significance
(May 26, 2023)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr12:48367216
GRCh38:
Chr12:47973433
COL2A1D1411N, D1480Nnot providedLikely benign
(Mar 10, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr12:48367218
GRCh38:
Chr12:47973435
COL2A1V1410A, V1479AInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Oct 7, 2022)
criteria provided, conflicting interpretations
24.
GRCh37:
Chr12:48367222
GRCh38:
Chr12:47973439
COL2A1G1409S, G1478Snot provided, Spondyloperipheral dysplasiaConflicting interpretations of pathogenicity
(Jul 14, 2022)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr12:48367223
GRCh38:
Chr12:47973440
COL2A1not providedLikely benign
(Oct 24, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:48367225
GRCh38:
Chr12:47973442
COL2A1F1408L, F1477Lnot providedUncertain significance
(Jul 2, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:48367232
GRCh38:
Chr12:47973449
COL2A1not providedLikely benign
(Sep 30, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr12:48367234
GRCh38:
Chr12:47973451
COL2A1E1405K, E1474Knot providedLikely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr12:48367235
GRCh38:
Chr12:47973452
COL2A1Achondrogenesis 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
30.
GRCh37:
Chr12:48367238-48367241
GRCh38:
Chr12:47973455-47973458
COL2A1G1403fs, G1472fsPlatyspondylic dysplasia, Torrance typePathogenic
(Jan 1, 2004)
no assertion criteria provided
31.
GRCh37:
Chr12:48367239
GRCh38:
Chr12:47973456
COL2A1G1472E, G1403Enot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr12:48367240
GRCh38:
Chr12:47973457
COL2A1G1472W, G1403Wnot providedUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr12:48367240
GRCh38:
Chr12:47973457
COL2A1G1472R, G1403Rnot providedConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr12:48367245
GRCh38:
Chr12:47973462
COL2A1I1401T, I1470Tnot providedUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr12:48367246
GRCh38:
Chr12:47973463
COL2A1I1401V, I1470Vnot providedBenign
(Sep 28, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr12:48367247
GRCh38:
Chr12:47973464
COL2A1not providedLikely benign
(Dec 13, 2021)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr12:48367249
GRCh38:
Chr12:47973466
COL2A1D1400Y, D1469Ynot providedPathogenic
(Aug 31, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr12:48367257
GRCh38:
Chr12:47973474
COL2A1A1397V, A1466Vnot providedUncertain significance
(May 1, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr12:48367257
GRCh38:
Chr12:47973474
COL2A1A1397E, A1466Enot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr12:48367262
GRCh38:
Chr12:47973479
COL2A1not providedLikely benign
(Dec 17, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr12:48367265
GRCh38:
Chr12:47973482
COL2A1I1394M, I1463Mnot providedConflicting interpretations of pathogenicity
(Jul 8, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr12:48367265-48367267
GRCh38:
Chr12:47973482-47973484
COL2A1I1463del, I1394delConnective tissue disorderLikely pathogenic
(Dec 23, 2020)
criteria provided, single submitter
43.
GRCh37:
Chr12:48367266
GRCh38:
Chr12:47973483
COL2A1I1463T, I1394Tnot providedUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr12:48367267
GRCh38:
Chr12:47973484
COL2A1I1394V, I1463Vnot providedUncertain significance
(Jul 31, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr12:48367274
GRCh38:
Chr12:47973491
COL2A1not providedLikely benign
(Apr 28, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr12:48367276
GRCh38:
Chr12:47973493
COL2A1L1391F, L1460Fnot providedUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:48367278
GRCh38:
Chr12:47973495
COL2A1R1390H, R1459Hnot providedConflicting interpretations of pathogenicity
(Jun 20, 2023)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr12:48367279
GRCh38:
Chr12:47973496
COL2A1R1459C, R1390Cnot provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Sep 9, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr12:48367291
GRCh38:
Chr12:47973508
COL2A1Q1455*, Q1386*not providedLikely pathogenic
(Aug 21, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr12:48367296
GRCh38:
Chr12:47973513
COL2A1R1384Q, R1453Qnot providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr12:48367297
GRCh38:
Chr12:47973514
COL2A1R1384W, R1453Wnot providedBenign
(May 6, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr12:48367298
GRCh38:
Chr12:47973515
COL2A1not providedUncertain significance
(Dec 2, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr12:48367299
GRCh38:
Chr12:47973516
COL2A1Y1383C, Y1452CInborn genetic diseases, not providedUncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr12:48367303
GRCh38:
Chr12:47973520
COL2A1E1382K, E1451Knot providedLikely benign
(Sep 29, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:48367304
GRCh38:
Chr12:47973521
COL2A1not provided, Type II Collagenopathies, Stickler syndrome type 1
Conflicting interpretations of pathogenicity
(Oct 19, 2022)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr12:48367306
GRCh38:
Chr12:47973523
COL2A1I1381V, I1450Vnot providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr12:48367308-48367309
GRCh38:
Chr12:47973525-47973526
COL2A1V1380fs, V1449fsAchondrogenesis type IILikely pathogeniccriteria provided, single submitter
58.
GRCh37:
Chr12:48367310
GRCh38:
Chr12:47973527
COL2A1Connective 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
59.
GRCh37:
Chr12:48367311
GRCh38:
Chr12:47973528
COL2A1T1379I, T1448Inot providedUncertain significance
(Nov 25, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr12:48367311
GRCh38:
Chr12:47973528
COL2A1T1448S, T1379Snot provided, Stickler syndrome type 1Uncertain significance
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:48367314
GRCh38:
Chr12:47973531
COL2A1K1447R, K1378Rnot providedLikely benign
(Jun 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:48367317
GRCh38:
Chr12:47973534
COL2A1G1377fs, G1446fsSpondyloperipheral dysplasiaPathogenic
(Aug 30, 2004)
no assertion criteria provided
63.
GRCh37:
Chr12:48367324-48367328
GRCh38:
Chr12:47973541-47973545
COL2A1G1374fs, G1443fsnot providedLikely pathogenic
(Nov 30, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr12:48367326
GRCh38:
Chr12:47973543
COL2A1G1374D, G1443Dnot providedUncertain significance
(Dec 27, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr12:48367326
GRCh38:
Chr12:47973543
COL2A1G1374fs, G1443fsnot providedPathogenic
(Mar 1, 2017)
criteria provided, single submitter
66.
GRCh37:
Chr12:48367327
GRCh38:
Chr12:47973544
COL2A1G1443S, G1374SConnective tissue disorder, not specified, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr12:48367328
GRCh38:
Chr12:47973545
COL2A1not providedConflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr12:48367329
GRCh38:
Chr12:47973546
COL2A1T1373N, T1442Nnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr12:48367330-48367331
GRCh38:
Chr12:47973547-47973548
COL2A1T1373fs, T1442fsnot providedPathogenic
(Sep 1, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr12:48367336
GRCh38:
Chr12:47973553
COL2A1K1371E, K1440Enot providedUncertain significance
(Jan 7, 2020)
criteria provided, single submitter
71.
GRCh37:
Chr12:48367340
GRCh38:
Chr12:47973557
COL2A1not providedLikely benign
(Jul 27, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr12:48367342
GRCh38:
Chr12:47973559
COL2A1not providedLikely benign
(Sep 26, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr12:48367350-48367352
GRCh38:
Chr12:47973567-47973569
COL2A1not providedLikely benign
(Aug 17, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr12:48367351-48367353
GRCh38:
Chr12:47973568-47973570
COL2A1not providedLikely benign
(Apr 11, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr12:48367351-48367367
GRCh38:
Chr12:47973568-47973584
COL2A1not providedLikely benign
(Sep 2, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr12:48367353
GRCh38:
Chr12:47973570
COL2A1not providedLikely benign
(Sep 6, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:48367427
GRCh38:
Chr12:47973644
COL2A1not specified, not providedBenign
(Sep 5, 2018)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:48367466
GRCh38:
Chr12:47973683
COL2A1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr12:48367557
GRCh38:
Chr12:47973774
COL2A1not providedLikely benign
(Aug 3, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr12:48367829
GRCh38:
Chr12:47974046
COL2A1not specified, not providedBenign
(Jun 23, 2018)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr12:48367857
GRCh38:
Chr12:47974074
COL2A1not providedLikely benign
(Feb 8, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr12:48367859
GRCh38:
Chr12:47974076
COL2A1not providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr12:48367863
GRCh38:
Chr12:47974080
COL2A1Type II Collagenopathies, Stickler syndrome type 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr12:48367864
GRCh38:
Chr12:47974081
COL2A1not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr12:48367870
GRCh38:
Chr12:47974087
COL2A1not providedPathogenic
(Aug 12, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr12:48367871
GRCh38:
Chr12:47974088
COL2A1Connective tissue disorderLikely pathogenic
(Jun 7, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr12:48367871
GRCh38:
Chr12:47974088
COL2A1not providedPathogenic
(Mar 3, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr12:48367871
GRCh38:
Chr12:47974088
COL2A1Stickler syndrome type 1Pathogenic
(Feb 18, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr12:48367872
GRCh38:
Chr12:47974089
COL2A1not providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr12:48367873
GRCh38:
Chr12:47974090
COL2A1T1370M, T1439MSpondyloepiphyseal dysplasia congenita, not provided, Spondyloperipheral dysplasia
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr12:48367875-48367876
GRCh38:
Chr12:47974092-47974093
COL2A1C1438fs, C1369fsnot providedPathogenic
(Jun 13, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr12:48367875
GRCh38:
Chr12:47974092
COL2A1C1438*, C1369*Spondyloperipheral dysplasiaPathogenic
(Aug 30, 2004)
no assertion criteria provided
93.
GRCh37:
Chr12:48367883
GRCh38:
Chr12:47974100
COL2A1D1436N, D1367Nnot providedUncertain significance
(Oct 31, 2014)
criteria provided, single submitter
94.
GRCh37:
Chr12:48367886
GRCh38:
Chr12:47974103
COL2A1K1435*, K1366*not providedPathogenic
(May 16, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr12:48367890
GRCh38:
Chr12:47974107
COL2A1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr12:48367896
GRCh38:
Chr12:47974113
COL2A1Y1362*, Y1431*not providedPathogenic
(Jul 13, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr12:48367897-48367898
GRCh38:
Chr12:47974114-47974115
COL2A1Y1362fs, Y1431fsSpondyloperipheral dysplasiaPathogenic
(May 3, 1996)
no assertion criteria provided
98.
GRCh37:
Chr12:48367898
GRCh38:
Chr12:47974115
COL2A1Y1362H, Y1431Hnot providedUncertain significance
(Dec 1, 2020)
criteria provided, single submitter
99.
GRCh37:
Chr12:48367899
GRCh38:
Chr12:47974116
COL2A1not providedConflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
100.
GRCh37:
Chr12:48367900
GRCh38:
Chr12:47974117
COL2A1T1361M, T1430Mnot provided, not specifiedConflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
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