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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr12:282465-133773393
GRCh38:
Chr12:121271-133196807
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, 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, LOC105370047, 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, 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, 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, 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, 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, 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, PLEKHA5, PKP2, PLA2G1B, PLBD1, PLBD1-AS1, PLBD2, PLCZ1, 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, 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
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr12:114706208-133777902
GRCh38:
Chr12:114268403-133201316
AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CABP1-DT, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CIT, CLIP1, CLIP1-AS1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HRK, HSPB8, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, KSR2, LINC00173, LINC00507, LINC00508, LINC00934, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02423, LINC02439, LINC02440, LINC02441, LINC02460, LINC02824, LINC02825, LINC02826, LINC02985, LOC100128276, LOC100506551, LOC100996671, LOC101593348, LOC101927531, LOC101928416, LOC101929974, LOC105370002, LOC105370024, LOC105370027, LOC105370047, LOC105370068, LOC106783497, LOC109280165, LOC109286556, LOC110120878, LOC110599568, LOC111258525, LOC111258526, LOC111556143, LOC111776216, LOC112163525, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939933, LOC113939934, LOC116268451, LOC116268452, LOC116268453, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121838564, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, 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, 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, LOC128125816, LOC128706664, LOC128772386, LOC128772387, LRCOL1, LRRC43, MAP1LC3B2, MED13L, MIR1178, MIR3612, MIR3908, MIR4304, MIR4472-2, MIR4498, MIR4700, MIR5188, MIR620, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, NRAV, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, PXN-AS1, RAB35, RAB35-AS1, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RNFT2, RNU4-1, RNU4-2, RPLP0, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, SPRING1, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TBX3, TBX3-AS1, TBX5, TBX5-AS1, TCTN2, TESC, TESC-AS1, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM233, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
3.
GRCh37:
Chr12:115569388-133743506
GRCh38:
Chr12:115131583-133166920
LOC126861680, LOC126861681, LOC126861682, LOC126861683, LOC126861684, LOC126861685, LOC126861686, LOC126861687, LOC126861688, LOC126861689, LOC126861690, LOC126861691, LOC126861692, LOC126861693, LOC126861694, LOC126861695, LOC126861696, LOC126861697, LOC126861698, LOC126861699, LOC126861700, LOC126861701, LOC126861702, LOC128071547, LOC128125816, LOC128706664, LOC128772386, LOC128772387, LRCOL1, LRRC43, MAP1LC3B2, MED13L, MIR1178, MIR3612, MIR3908, MIR4304, MIR4472-2, MIR4498, MIR4700, MIR5188, MIR620, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NOS1, NRAV, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PEBP1, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, PXN-AS1, RAB35, RAB35-AS1, RAN, RFC5, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RNFT2, RNU4-1, RNU4-2, RPLP0, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, SPRING1, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TCTN2, TESC, TESC-AS1, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM233, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, VSIG10, WSB2, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891, AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CABP1-DT, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CIT, CLIP1, CLIP1-AS1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FBXO21, FBXW8, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HRK, HSPB8, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, KSR2, LINC00173, LINC00507, LINC00508, LINC00934, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02423, LINC02439, LINC02440, LINC02441, LINC02460, LINC02824, LINC02825, LINC02826, LINC02985, LOC100128276, LOC100506551, LOC100996671, LOC101593348, LOC101927531, LOC101928416, LOC101929974, LOC105370002, LOC105370024, LOC105370027, LOC105370047, LOC105370068, LOC106783497, LOC110599568, LOC111258525, LOC111258526, LOC111556143, LOC111776216, LOC112163526, LOC112163527, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939933, LOC113939934, LOC116268451, LOC116268452, LOC116268453, LOC121466716, LOC121466717, LOC121466718, LOC121466719, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121838565, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, 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, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr12:118603264-133758908
GRCh38:
Chr12:118165459-133182322
AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BICDL1, BRI3BP, C12orf43, CABP1, CABP1-DT, CAMKK2, CCDC60, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CIT, CLIP1, CLIP1-AS1, COQ5, COX6A1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, DYNLL1, EIF2B1, EP400, FBRSL1, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GATC, GCN1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, HSPB8, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, LINC00507, LINC00508, LINC00934, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02423, LINC02439, LINC02440, LINC02441, LINC02460, LINC02824, LINC02825, LINC02826, LINC02985, LOC100128276, LOC100996671, LOC101593348, LOC101927531, LOC101928416, LOC101929974, LOC105370024, LOC105370027, LOC105370047, LOC105370068, LOC106783497, LOC110599568, LOC111556143, LOC111776216, LOC112163528, LOC112163529, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939933, LOC113939934, LOC116268452, LOC116268453, LOC121466720, LOC121466721, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, 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, 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, LOC128125816, LRCOL1, LRRC43, MIR1178, MIR3612, MIR3908, MIR4304, MIR4498, MIR4700, MIR5188, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MSI1, MTRFR, MUC8, NCOR2, NOC4L, NRAV, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, PLA2G1B, POLE, POP5, PRKAB1, PSMD9, PUS1, PXMP2, PXN, PXN-AS1, RAB35, RAB35-AS1, RAN, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF10, RNF34, RNU4-1, RNU4-2, RPLP0, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SIRT4, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, SRRM4, SRSF9, STX2, SUDS3, TAOK3, TCTN2, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TMEM233, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, TRIAP1, UBC, ULK1, UNC119B, VPS33A, VPS37B, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr12:121135475-133779076
GRCh38:
Chr12:120697672-133202490
ZNF84, ZNF84-DT, ZNF891, AACS, ABCB9, ACADS, ADGRD1, ADGRD1-AS1, ANAPC5, ANKLE2, ARL6IP4, ATP6V0A2, B3GNT4, BCL7A, BRI3BP, C12orf43, CAMKK2, CCDC62, CCDC92, CDK2AP1, CFAP251, CHFR, CHFR-DT, CLIP1, CLIP1-AS1, DDX51, DDX55, DENR, DHX37, DIABLO, DNAH10, EIF2B1, EP400, FBRSL1, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GLT1D1, GOLGA3, GTF2H3, HCAR1, HCAR2, HCAR3, HIP1R, HNF1A, HNF1A-AS1, HPD, IL31, KDM2B, KDM2B-DT, KMT5A, KNTC1, LINC00507, LINC00508, LINC00939, LINC00943, LINC00944, LINC01089, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02441, LINC02824, LINC02825, LINC02826, LINC02985, LOC100128276, LOC100996671, LOC101593348, LOC101927531, LOC101928416, LOC101929974, LOC105370047, LOC105370068, LOC106783497, LOC110599568, LOC111776216, LOC112163530, LOC112163531, LOC112163532, LOC112163533, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939934, LOC116268452, LOC116268453, LOC121466722, LOC121466723, LOC121466724, LOC121466725, LOC121466726, LOC121466727, LOC121838566, LOC121838567, LOC121838568, LOC121838569, LOC121838570, LOC121838571, 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, 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, LOC128125816, LRCOL1, LRRC43, MIR3612, MIR3908, MIR4304, MIR4700, MIR5188, MIR6763, MIR6880, MIR7107, MIR8072, MIR9902-1, MIR9902-2, MLEC, MLXIP, MMP17, MORN3, MPHOSPH9, MTRFR, MUC8, NCOR2, NOC4L, OASL, OGFOD2, ORAI1, P2RX2, P2RX4, P2RX7, PGAM5, PITPNM2, PITPNM2-AS1, PIWIL1, POLE, PSMD9, PUS1, PXMP2, RAN, RFLNA, RHOF, RILPL1, RILPL2, RIMBP2, RNF34, RSRC2, SBNO1, SBNO1-AS1, SCARB1, SETD1B, SFSWAP, SLC15A4, SNORA49, SNORA9B, SNRNP35, SPPL3, STX2, TCTN2, THRIL, TMED2, TMED2-DT, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, UBC, ULK1, UNC119B, VPS33A, VPS37B, XLOC_009911, ZCCHC8, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF664-RFLNA
See casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
6.
GRCh37:
Chr12:123929305-133767986
GRCh38:
Chr12:123444758-133191400
AACS, ADGRD1, ADGRD1-AS1, ANKLE2, ATP6V0A2, BRI3BP, CCDC92, CHFR, CHFR-DT, DDX51, DDX55, DHX37, DNAH10, EIF2B1, EP400, FBRSL1, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GLT1D1, GOLGA3, GTF2H3, LINC00507, LINC00508, LINC00939, LINC00943, LINC00944, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02441, LINC02824, LINC02825, LINC02826, LOC100128276, LOC100996671, LOC101927531, LOC101928416, LOC101929974, LOC105370047, LOC105370068, LOC106783497, LOC110599568, LOC112163534, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939934, LOC116268452, LOC116268453, LOC121466725, LOC121466726, LOC121466727, LOC121838569, LOC121838570, LOC121838571, LOC124849272, LOC124849273, LOC124849274, LOC124849275, LOC124849277, LOC124849278, LOC124849279, LOC124849280, LOC124849281, LOC124849282, LOC124849283, LOC124849284, LOC124849286, LOC124849287, LOC124849288, LOC124849289, LOC124849290, LOC124849291, 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, LRCOL1, MIR3612, MIR3908, MIR5188, MIR6763, MIR6880, MMP17, MUC8, NCOR2, NOC4L, P2RX2, PGAM5, PIWIL1, POLE, PUS1, PXMP2, RAN, RFLNA, RILPL1, RIMBP2, SCARB1, SFSWAP, SLC15A4, SNORA49, SNORA9B, SNRNP35, STX2, TCTN2, THRIL, TMED2, TMED2-DT, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, UBC, ULK1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr12:123994372-133767986
GRCh38:
Chr12:123509825-133191400
AACS, ADGRD1, ADGRD1-AS1, ANKLE2, ATP6V0A2, BRI3BP, CCDC92, CHFR, CHFR-DT, DDX51, DDX55, DHX37, DNAH10, EIF2B1, EP400, FBRSL1, FZD10, FZD10-AS1, GALNT9, GALNT9-AS1, GLT1D1, GOLGA3, GTF2H3, LINC00507, LINC00508, LINC00939, LINC00943, LINC00944, LINC01257, LINC02347, LINC02350, LINC02359, LINC02361, LINC02368, LINC02369, LINC02370, LINC02372, LINC02375, LINC02376, LINC02393, LINC02405, LINC02411, LINC02414, LINC02415, LINC02418, LINC02419, LINC02441, LINC02824, LINC02825, LINC02826, LOC100128276, LOC100996671, LOC101927531, LOC101928416, LOC101929974, LOC105370047, LOC105370068, LOC106783497, LOC110599568, LOC112163535, LOC112163537, LOC112163538, LOC112163539, LOC112163540, LOC112163541, LOC112163542, LOC112163546, LOC112163547, LOC113939934, LOC116268452, LOC116268453, LOC121466725, LOC121466726, LOC121466727, LOC121838569, LOC121838570, LOC121838571, LOC124849273, LOC124849274, LOC124849275, LOC124849277, LOC124849278, LOC124849279, LOC124849280, LOC124849281, LOC124849282, LOC124849283, LOC124849284, LOC124849286, LOC124849287, LOC124849288, LOC124849289, LOC124849290, LOC124849291, 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, LRCOL1, MIR3612, MIR3908, MIR5188, MIR6763, MIR6880, MMP17, MUC8, NCOR2, NOC4L, P2RX2, PGAM5, PIWIL1, POLE, PUS1, PXMP2, RAN, RFLNA, RILPL1, RIMBP2, SCARB1, SFSWAP, SLC15A4, SNORA49, SNORA9B, STX2, TCTN2, THRIL, TMED2, TMED2-DT, TMEM132B, TMEM132C, TMEM132D, TMEM132D-AS1, TMEM132D-AS2, TRA-TGC3-2, TRA-TGC4-1, TRD-GTC2-10, TRD-GTC2-9, TRF-GAA1-4, UBC, ULK1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF605, ZNF664, ZNF664-RFLNA, ZNF84, ZNF84-DT, ZNF891
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr12:126888158-133743506
GRCh38:
Chr12:126403612-133166920
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr12:132135087-133767986
GRCh38:
Chr12:131650542-133191400
See casesPathogenic
(Aug 19, 2010)
no assertion criteria provided
10.
GRCh37:
Chr12:133153200-133767986
GRCh38:
Chr12:132576614-133191400
See casesPathogenic
(Feb 28, 2010)
no assertion criteria provided
11.
GRCh37:
Chr12:133195135
GRCh38:
Chr12:132618549
P2RX2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr12:133195183-133195192
GRCh38:
Chr12:132618597-132618606
P2RX2not providedLikely benign
(Jan 6, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr12:133195311
GRCh38:
Chr12:132618725
P2RX2not providedBenign
(Jun 24, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr12:133195367
GRCh38:
Chr12:132618781
P2RX2not providedLikely benign
(Jul 23, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr12:133195367
GRCh38:
Chr12:132618781
P2RX2not specifiedBenign
(May 9, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr12:133195393
GRCh38:
Chr12:132618807
P2RX2not provided, not specifiedLikely benign
(Dec 12, 2018)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr12:133195411
GRCh38:
Chr12:132618825
P2RX2not specified, not providedBenign
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr12:133195442
GRCh38:
Chr12:132618856
P2RX2A14TInborn genetic diseasesUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr12:133195442
GRCh38:
Chr12:132618856
P2RX2A14Pnot providedUncertain significance
(Jun 16, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr12:133195444
GRCh38:
Chr12:132618858
P2RX2not providedBenign/Likely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr12:133195449
GRCh38:
Chr12:132618863
P2RX2R16Lnot providedUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr12:133195458
GRCh38:
Chr12:132618872
P2RX2R19QInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Nov 15, 2021)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr12:133195460
GRCh38:
Chr12:132618874
P2RX2G20Snot providedUncertain significance
(May 6, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr12:133195464
GRCh38:
Chr12:132618878
P2RX2C21Ynot providedBenign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr12:133195487
GRCh38:
Chr12:132618901
P2RX2E29*not providedUncertain significance
(Oct 14, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr12:133195499
GRCh38:
Chr12:132618913
P2RX2V33Mnot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr12:133195520
GRCh38:
Chr12:132618934
P2RX2R40SInborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, single submitter
28.
GRCh37:
Chr12:133195537
GRCh38:
Chr12:132618951
P2RX2not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr12:133195538
GRCh38:
Chr12:132618952
P2RX2R46Snot providedUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr12:133195540
GRCh38:
Chr12:132618954
P2RX2not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr12:133195545
GRCh38:
Chr12:132618959
P2RX2V48Gnot providedUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr12:133195578-133195598
GRCh38:
Chr12:132618992-132619012
P2RX2not providedUncertain significance
(Sep 21, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr12:133195580-133195593
GRCh38:
Chr12:132618994-132619007
P2RX2not provided, Autosomal dominant nonsyndromic hearing loss 41Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr12:133195594-133195600
GRCh38:
Chr12:132619008-132619014
P2RX2not providedLikely benign
(Aug 17, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr12:133195625
GRCh38:
Chr12:132619039
P2RX2not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr12:133195663-133195694
GRCh38:
Chr12:132619077-132619108
P2RX2not providedBenign
(Aug 13, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr12:133195799
GRCh38:
Chr12:132619213
P2RX2not providedBenign
(Aug 15, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr12:133195804-133195806
GRCh38:
Chr12:132619218-132619220
P2RX2not providedBenign
(Aug 21, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr12:133195808-133195812
GRCh38:
Chr12:132619222-132619226
P2RX2not providedBenign
(Aug 21, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr12:133195810-133195811
GRCh38:
Chr12:132619224-132619225
P2RX2not providedBenign
(Nov 19, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr12:133195812
GRCh38:
Chr12:132619226
P2RX2not providedBenign
(Aug 8, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr12:133195812-133195813
GRCh38:
Chr12:132619226-132619227
P2RX2not providedBenign
(Aug 13, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr12:133195896
GRCh38:
Chr12:132619310
P2RX2not providedLikely benign
(Mar 31, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr12:133196021
GRCh38:
Chr12:132619435
P2RX2not provided, not specifiedBenign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr12:133196024
GRCh38:
Chr12:132619438
P2RX2not providedUncertain significance
(May 29, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr12:133196029
GRCh38:
Chr12:132619443
P2RX2R37H, V60Inot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr12:133196029
GRCh38:
Chr12:132619443
P2RX2V60L, R37LAutosomal dominant nonsyndromic hearing loss 41Pathogenic
(Feb 5, 2013)
no assertion criteria provided
48.
GRCh37:
Chr12:133196037
GRCh38:
Chr12:132619451
P2RX2R40Cnot provided, not specifiedBenign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr12:133196038
GRCh38:
Chr12:132619452
P2RX2R40H, V63MInborn genetic diseasesUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr12:133196056-133196073
GRCh38:
Chr12:132619470-132619487
P2RX2not providedUncertain significance
(Feb 1, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr12:133196062
GRCh38:
Chr12:132619476
P2RX2E71K, R48Qnot specified, not providedBenign/Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr12:133196072
GRCh38:
Chr12:132619486
P2RX2P74Rnot providedUncertain significance
(Nov 14, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr12:133196142
GRCh38:
Chr12:132619556
P2RX2V75Inot providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr12:133196158
GRCh38:
Chr12:132619572
P2RX2E103fs, R80fsnot providedUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr12:133196263-133196264
GRCh38:
Chr12:132619677-132619678
P2RX2not providedUncertain significance
(Oct 28, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr12:133196264
GRCh38:
Chr12:132619678
P2RX2not providedUncertain significance
(Mar 2, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr12:133196329
GRCh38:
Chr12:132619743
P2RX2C125Ynot providedUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr12:133196338
GRCh38:
Chr12:132619752
P2RX2not specified, not provided, Autosomal dominant nonsyndromic hearing loss 41
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr12:133196352
GRCh38:
Chr12:132619766
P2RX2not providedLikely benign
(Jan 11, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr12:133196416
GRCh38:
Chr12:132619830
P2RX2not providedBenign/Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr12:133196463
GRCh38:
Chr12:132619877
P2RX2D115N, D139N, D47Nnot providedUncertain significance
(Apr 19, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr12:133196466
GRCh38:
Chr12:132619880
P2RX2A116T, A140T, A48Tnot providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr12:133196474
GRCh38:
Chr12:132619888
P2RX2C118*, C142*, C50*not providedBenign
(Sep 4, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr12:133196483
GRCh38:
Chr12:132619897
P2RX2not providedBenign
(May 12, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr12:133196492
GRCh38:
Chr12:132619906
P2RX2not providedLikely benign
(Oct 2, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr12:133196495
GRCh38:
Chr12:132619909
P2RX2M149I, M125I, M57Inot providedUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr12:133196505
GRCh38:
Chr12:132619919
P2RX2G129R, G129S, G153S, G61Snot providedUncertain significance
(Jun 7, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr12:133196514
GRCh38:
Chr12:132619928
P2RX2not specifiedLikely benign
(Mar 20, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr12:133196516
GRCh38:
Chr12:132619930
P2RX2not providedLikely benign
(Sep 24, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr12:133196566
GRCh38:
Chr12:132619980
P2RX2not providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr12:133196582-133196583
GRCh38:
Chr12:132619996-132619997
P2RX2Autosomal dominant nonsyndromic hearing loss 41Uncertain significance
(Jul 1, 2021)
no assertion criteria provided
72.
GRCh37:
Chr12:133196596
GRCh38:
Chr12:132620010
P2RX2not specified, Autosomal dominant nonsyndromic hearing loss 41, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr12:133196618
GRCh38:
Chr12:132620032
P2RX2Q140*, Q164*, Q72*, Q92*Autosomal dominant nonsyndromic hearing loss 41Uncertain significance
(Oct 8, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr12:133196619
GRCh38:
Chr12:132620033
P2RX2Q164R, Q92R, Q72R, Q140Rnot provided, not specifiedBenign/Likely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr12:133196652
GRCh38:
Chr12:132620066
P2RX2W175*, W103*, W151*, W83*not providedUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr12:133196670
GRCh38:
Chr12:132620084
P2RX2W145C, G157V, G89V, G109V, G181Vnot providedUncertain significance
(Feb 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr12:133196696
GRCh38:
Chr12:132620110
P2RX2not specified, not providedBenign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr12:133196702
GRCh38:
Chr12:132620116
P2RX2not providedBenign/Likely benign
(May 12, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr12:133196704
GRCh38:
Chr12:132620118
P2RX2not providedLikely benign
(Jun 25, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr12:133196730
GRCh38:
Chr12:132620144
P2RX2not providedLikely benign
(Jun 16, 2020)
criteria provided, single submitter
81.
GRCh37:
Chr12:133196733
GRCh38:
Chr12:132620147
P2RX2not providedBenign
(Jun 22, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr12:133196773
GRCh38:
Chr12:132620187
P2RX2not providedBenign
(Jun 22, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr12:133196891-133196893
GRCh38:
Chr12:132620305-132620307
P2RX2H163del, I107del, I127del, I175del, I199delnot providedUncertain significance
(Oct 22, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr12:133196923
GRCh38:
Chr12:132620337
P2RX2H137Y, H117Y, H209Y, P173L, H185Ynot providedUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr12:133196934
GRCh38:
Chr12:132620348
P2RX2not providedUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr12:133196943
GRCh38:
Chr12:132620357
P2RX2not providedLikely benign
(May 29, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr12:133197018
GRCh38:
Chr12:132620432
P2RX2Autosomal dominant nonsyndromic hearing loss 41, not specified, not provided
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr12:133197041
GRCh38:
Chr12:132620455
P2RX2A124T, A144T, A192T, A216T, R180Hnot providedUncertain significance
(Jul 8, 2019)
criteria provided, single submitter
89.
GRCh37:
Chr12:133197043
GRCh38:
Chr12:132620457
P2RX2R181*not providedLikely benign
(Jun 5, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr12:133197056
GRCh38:
Chr12:132620470
P2RX2R185P, G129R, G197R, G221R, G149RInborn genetic diseasesUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr12:133197068
GRCh38:
Chr12:132620482
P2RX2A189G, R133G, R153G, R201G, R225GInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr12:133197092
GRCh38:
Chr12:132620506
P2RX2D161N, D233N, D141N, D209N, R197Qnot providedUncertain significance
(Dec 19, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr12:133197093
GRCh38:
Chr12:132620507
P2RX2D141G, D161G, D209G, D233Gnot specifiedUncertain significance
(Feb 20, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr12:133197094
GRCh38:
Chr12:132620508
P2RX2P198Snot specified, not providedBenign
(Oct 31, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr12:133197095
GRCh38:
Chr12:132620509
P2RX2L142F, P198L, L210F, L162F, L234Fnot providedUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr12:133197103
GRCh38:
Chr12:132620517
P2RX2P201Snot providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr12:133197105
GRCh38:
Chr12:132620519
P2RX2P165L, P213L, P145L, P237Lnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr12:133197122
GRCh38:
Chr12:132620536
P2RX2F151L, F171L, F219L, F243L, L207Pnot provided, Inborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr12:133197153
GRCh38:
Chr12:132620567
P2RX2H217Q, T161R, T181R, T229R, T253Rnot providedUncertain significance
(Jan 12, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr12:133197157
GRCh38:
Chr12:132620571
P2RX2A219Tnot provided, not specifiedLikely benign
(Feb 19, 2019)
criteria provided, multiple submitters, no conflicts
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