ClinVar Miner

Variants studied for partial trisomy/tetrasomy of the short arm of chromosome 12

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
2 0 0 0 0 2

Gene and significance breakdown #

Total genes and gene combinations: 2
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Gene or gene combination pathogenic total
A2M, A2ML1, ABCC9, ACRBP, ACSM4, ADIPOR2, AEBP2, AICDA, AKAP3, ALG10, AMN1, ANO2, APOBEC1, APOLD1, ARHGDIB, ART4, ATF7IP, ATN1, B4GALNT3, BCAT1, BCL2L14, BHLHE41, BICD1, BMAL2, BORCS5, C12orf57, C12orf60, C12orf71, C1R, C1RL, C1S, C2CD5, C3AR1, CACNA1C, CACNA2D4, CAPRIN2, CAPZA3, CCDC77, CCDC91, CCND2, CD163, CD163L1, CD27, CD4, CD69, CD9, CDCA3, CDKN1B, CHD4, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2B, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC4E, CLEC6A, CLEC7A, CLEC9A, CLECL1, CLSTN3, CMAS, COPS7A, CRACR2A, CREBL2, DCP1B, DDX11, DDX47, DENND5B, DERA, DNAI7, DNM1L, DPPA3, DUSP16, DYRK4, EMG1, EMP1, ENO2, EPS8, ERC1, ERGIC2, ERP27, ETFBKMT, ETFRF1, ETNK1, ETV6, FAM234B, FAM90A1, FAR2, FBXL14, FERRY3, FGD4, FGF23, FGF6, FGFR1OP2, FKBP4, FOXJ2, FOXM1, GABARAPL1, GALNT8, GAPDH, GDF3, GNB3, GOLT1B, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GSG1, GUCY2C, GYS2, H2AJ, H3-5, H4C16, HEBP1, IAPP, IFFO1, ING4, INTS13, IPO8, IQSEC3, IRAG2, ITFG2, ITPR2, KCNA1, KCNA5, KCNA6, KCNJ8, KDM5A, KLHL42, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KRAS, LAG3, LDHB, LINC02909, LMNTD1, LMO3, LPAR5, LPCAT3, LRP6, LRRC23, LRTM2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MED21, MFAP5, MGP, MGST1, MIR141, MIR200C, MLF2, MRPL51, MRPS35, NANOG, NANOGNB, NCAPD2, NDUFA9, NECAP1, NINJ2, NOP2, NRIP2, NTF3, OLR1, OVCH1, P3H3, PARP11, PDE3A, PDE6H, PEX5, PHB2, PHC1, PIANP, PIK3C2G, PKP2, PLBD1, PLCZ1, PLEKHA5, PLEKHG6, PPFIBP1, PRB1, PRB2, PRB3, PRB4, PRH1, PRH2, PRMT8, PRR4, PTHLH, PTMS, PTPN6, PTPRO, PYROXD1, PZP, RAD51AP1, RAD52, RASSF8, RBP5, RECQL, REP15, RERG, RERGL, RESF1, RHNO1, RIMKLB, SCNN1A, SINHCAF, SLC15A5, SLC2A14, SLC2A3, SLC6A12, SLC6A13, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOX5, SPSB2, SPX, SSPN, ST8SIA1, STK38L, STRAP, STYK1, SYT10, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R7, TAS2R8, TAS2R9, TEAD4, TIGAR, TM7SF3, TMEM52B, TMTC1, TNFRSF1A, TPI1, TSPAN11, TSPAN9, TULP3, USP5, VAMP1, VWF, WBP11, WNK1, WNT5B, YARS2, YBX3, ZNF384, ZNF705A 1 1
A2ML1, A3GALT2, AADACL3, AADACL4, ACAP3, ACOT7, ACTL8, ACTRT2, ADGRB2, AGMAT, AGRN, AGTRAP, AHDC1, AJAP1, AK2, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, ANGPTL7, ANKRD65, ARHGEF10L, ARHGEF16, ARHGEF19, ARID1A, ASAP3, ATAD3A, ATAD3B, ATAD3C, ATP13A2, ATP5IF1, AUNIP, AURKAIP1, AZIN2, B3GALT6, BSDC1, C1QA, C1QB, C1QC, C1QTNF12, C1orf127, C1orf159, C1orf167, C1orf174, C1orf232, CA6, CACNA1C, CALML6, CAMK2N1, CAMTA1, CAMTA1-DT, CAMTA1-IT1, CAPZB, CASP9, CASZ1, CATSPER4, CCDC27, CCDC28B, CCNL2, CD164L2, CD52, CDA, CDC42, CDK11A, CDK11B, CELA2A, CELA2B, CELA3A, CELA3B, CENPS, CENPS-CORT, CEP104, CEP85, CFAP107, CFAP74, CHD5, CLCN6, CLCNKA, CLCNKB, CLIC4, CLSTN1, CNKSR1, CNR2, COL16A1, CORT, CPLANE2, CPTP, CROCC, CRYBG2, CSMD2, CTNNBIP1, CTRC, DCDC2B, DDI2, DDOST, DFFA, DFFB, DHDDS, DHRS3, DISP3, DNAJC11, DNAJC16, DNAJC8, DRAXIN, DVL1, E2F2, ECE1, EFHD2, EIF3I, EIF4G3, ELOA, EMC1, ENO1, EPB41, EPHA2, EPHA8, EPHB2, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXTL1, EYA3, FAAP20, FABP3, FAM110D, FAM131C, FAM167B, FAM229A, FAM231AP, FAM41C, FAM43B, FAM76A, FAM87B, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGR, FHAD1, FNDC10, FNDC5, FUCA1, GABRD, GALE, GMEB1, GNB1, GNB1-DT, GPATCH3, GPN2, GPR153, GPR157, GPR3, GRHL3, H6PD, HCRTR1, HDAC1, HES2, HES3, HES4, HES5, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HNRNPR, HP1BP3, HPCA, HSPB7, HSPG2, HTR1D, HTR6, ICMT, ICMT-DT, ID3, IFFO2, IFI6, IFNLR1, IGSF21, IL22RA1, INTS11, IQCC, ISG15, KAZN, KCNAB2, KDF1, KDM1A, KHDRBS1, KIAA2013, KIF17, KIF1B, KLHDC7A, KLHL17, KLHL21, KPNA6, LACTBL1, LAPTM5, LCK, LDLRAD2, LDLRAP1, LIN28A, LINC00115, LINC00339, LINC01128, LINC01134, LINC01141, LINC01226, LINC01342, LINC01345, LINC01346, LINC01355, LINC01409, LINC01635, LINC01646, LINC01647, LINC01648, LINC01654, LINC01672, LINC01714, LINC01756, LINC01757, LINC01770, LINC01772, LINC01777, LINC01778, LINC01783, LINC01784, LINC01786, LINC02566, LINC02574, LINC02593, LINC02596, LINC02606, LINC02766, LINC02780, LINC02782, LINC02783, LINC02800, LINC03126, LNCTAM34A, LOC100132287, LOC100288069, LOC100288175, LOC100506730, LOC100996583, LOC101928163, LOC101928626, LOC101928728, LOC105376689, LOC105376805, LOC105376859, LOC105376892, LOC105378586, LOC105378604, LOC105378626, LOC105378947, LOC105378948, LOC106501712, LOC106501713, LOC106783496, LOC106783575, LOC107985728, LOC107988049, LOC108175348, LOC108254669, LOC108254694, LOC108281140, LOC108281186, LOC108281189, LOC109851610, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110120729, LOC110120751, LOC110121088, LOC110121160, LOC110121213, LOC110121223, LOC110121258, LOC110121260, LOC110121289, LOC110594336, LOC110599576, LOC111501765, LOC111501793, LOC111562380, LOC111591499, LOC111721714, LOC111828503, LOC112268219, LOC112577469, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC112577524, LOC112577525, LOC112577550, LOC112577563, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577578, LOC112577579, LOC112577581, LOC112577582, LOC112577583, LOC112577584, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC113939986, LOC113939988, LOC114827827, LOC115801415, LOC115801416, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC117779438, LOC120766157, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC120893114, LOC120893115, LOC120893116, LOC120893117, LOC120893118, LOC120893119, LOC120893120, LOC120893121, LOC120893122, LOC120893123, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121677386, LOC121677387, LOC121725003, LOC121725004, LOC121725005, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121967041, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC122056776, LOC122056777, LOC122056778, LOC122056779, LOC122056780, LOC122056781, LOC122056782, LOC122056783, LOC122056784, LOC122056785, LOC122056786, LOC122056787, LOC122056788, LOC122056789, LOC122056790, LOC122056791, LOC122056792, LOC122056793, LOC122056794, LOC122056796, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LOC126805639, LOC126805640, LOC126805641, LOC126805642, LOC126805643, LOC126805644, LOC126805645, LOC126805646, LOC126805647, LOC126805648, LOC126805649, LOC126805650, LOC126805651, LOC126805652, LOC126805653, LOC126805654, LOC126805655, LOC126805656, LOC126805657, LOC126805658, LOC126805659, LOC126805660, LOC126805661, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC127239154, LOC128031832, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, LOC129388457, LOC129388458, LOC129388459, LOC129388460, LOC129388461, LOC129388462, LOC129388463, LOC129388464, LOC129388465, LOC129388466, LOC129388467, LOC129388468, LOC129388469, LOC129388470, LOC129388471, LOC129388472, LOC129388473, LOC129388474, LOC129388475, LOC129388476, LOC129388477, LOC129388478, LOC129388479, LOC129388480, LOC129388481, LOC129388482, LOC129388483, LOC129388484, LOC129388485, LOC129388486, LOC129388487, LOC129388488, LOC129388489, LOC129388490, LOC129388491, LOC129388492, LOC129929055, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC129929212, LOC129929213, LOC129929214, LOC129929215, LOC129929216, LOC129929217, LOC129929218, LOC129929219, LOC129929220, LOC129929221, LOC129929222, LOC129929223, LOC129929224, LOC129929225, LOC129929226, LOC129929227, LOC129929228, LOC129929229, LOC129929230, LOC129929231, LOC129929232, LOC129929233, LOC129929234, LOC129929235, LOC129929236, LOC129929237, LOC129929238, LOC129929239, LOC129929240, LOC129929241, LOC129929242, LOC129929243, LOC129929244, LOC129929245, LOC129929246, LOC129929247, LOC129929248, LOC129929249, LOC129929250, LOC129929251, LOC129929252, LOC129929253, LOC129929254, LOC129929255, LOC129929256, LOC129929257, LOC129929258, LOC129929259, LOC129929260, LOC129929261, LOC129929262, LOC129929263, LOC129929264, LOC129929265, LOC129929266, LOC129929267, LOC129929268, LOC129929269, LOC129929270, LOC129929271, LOC129929272, LOC129929273, LOC129929274, LOC129929275, LOC129929276, LOC129929277, LOC129929278, LOC129929279, LOC129929280, LOC129929281, LOC129929282, LOC129929283, LOC129929284, LOC129929285, LOC129929286, LOC129929287, LOC129929288, LOC129929289, LOC129929290, LOC129929291, LOC129929292, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC129929458, LOC129929459, LOC129929460, LOC129929461, LOC129929462, LOC129929463, LOC129929464, LOC129929465, LOC129929466, LOC129929467, LOC129929468, LOC129929469, LOC129929470, LOC129929471, LOC129929472, LOC129929473, LOC129929474, LOC129929475, LOC129929476, LOC129929477, LOC129929478, LOC129929479, LOC129929480, LOC129929481, LOC129929482, LOC129929483, LOC129929484, LOC129929485, LOC129929486, LOC129929487, LOC129929488, LOC129929489, LOC129929490, LOC129929491, LOC129929492, LOC129929493, LOC129929494, LOC129929495, LOC129929496, LOC129929497, LOC129929498, LOC129929499, LOC129929500, LOC129929501, LOC129929502, LOC129929503, LOC129929504, LOC129929505, LOC129929506, LOC129929507, LOC129929508, LOC129929509, LOC129929510, LOC129929511, LOC129929512, LOC129929513, LOC129929514, LOC129929515, LOC129929516, LOC129929517, LOC129929518, LOC129929519, LOC129929520, LOC129929521, LOC129929522, LOC129929523, LOC129929524, LOC129929525, LOC129929526, LOC129929527, LOC129929528, LOC129929529, LOC129929530, LOC129929531, LOC129929532, LOC129929533, LOC129929534, LOC129929535, LOC129929536, LOC129929537, LOC129929538, 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LOC132088690, LOC132088691, LOC132088692, LOC132088693, LOC132088694, LOC132088695, LOC132088696, LOC132088697, LOC132088698, LOC132088699, LOC132088700, LOC132088701, LOC132088702, LOC132088703, LOC132088704, LOC132088706, LOC132088707, LOC132088708, LOC132088720, LOC132088746, LOC132090658, LOC132090659, LOC132090660, LOC132090661, LOC132205951, LOC132205952, LOC133206433, LOC133206434, LOC400748, LOC646471, LOC729737, LRRC38, LRRC47, LUZP1, LYPLA2, LZIC, MACO1, MAD2L2, MAN1C1, MAP3K6, MARCKSL1, MASP2, MATN1, MDS2, MECR, MED18, MEGF6, MFAP2, MFN2, MIB2, MICOS10, MICOS10-DT, MICOS10-NBL1, MIIP, MIR12136, MIR1256, MIR1290, MIR1976, MIR200A, MIR200B, MIR3115, MIR34A, MIR34AHG, MIR3605, MIR3675, MIR378F, MIR3917, MIR3972, MIR4251, MIR4252, MIR4253, MIR4254, MIR429, MIR4418, MIR4420, MIR4425, MIR4632, MIR4684, MIR4689, MIR4695, MIR551A, MIR5585, MIR5697, MIR6084, MIR6127, MIR6726, MIR6727, MIR6728, MIR6729, MIR6730, MIR6731, MIR6808, MIR6859-2, MIR7846, MMEL1, MMP23B, MORN1, MRPL20, MRPL20-DT, MRTO4, MTFR1L, MTHFR, MTOR, MUL1, MXRA8, MYOM3, NADK, NBL1, NBPF1, NBPF3, NCMAP, NCMAP-DT, NECAP2, NHSL3, NIPAL3, NKAIN1, NMNAT1, NOC2L, NOL9, NPHP4, NPPA, NPPB, NR0B2, NUDC, OPRD1, OR4F16, OR4F29, OTUD3, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PANK4, PAQR7, PARK7, PAX7, PDIK1L, PDPN, PEF1, PER3, PERM1, PEX10, PEX14, PGD, PHACTR4, PHC2, PHF13, PIGV, PIK3CD, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLCH2, PLEKHG5, PLEKHM2, PLEKHN1, PLOD1, PNRC2, PPP1R8, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM16, PRDM16-DT, PRDM2, PRKCZ, PRKCZ-DT, PRXL2B, PTAFR, PTP4A2, PTPRU, PUM1, PUSL1, RAB42, RAP1GAP, RBBP4, RBP7, RCAN3, RCAN3AS, RCC1, RCC2, RER1, RERE, RHCE, RHD, RNF186, RNF19B, RNF207, RNF223, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RNU11, RNU5E-1, RPA2, RPL11, RPL22, RPS6KA1, RSC1A1, RSRP1, RUNX3, S100PBP, SAMD11, SCARNA1, SCARNA21B, SCNN1D, SDC3, SDF4, SDHB, SELENON, SERINC2, SESN2, SFN, SH2D5, SH3BGRL3, SKI, SLC25A33, SLC25A34, SLC2A5, SLC2A7, SLC30A2, SLC35E2A, SLC35E2B, SLC45A1, SLC66A1, SLC9A1, SMIM1, SMPDL3B, SNHG12, SNHG3, SNORA16A, SNORA44, SNORA59A, SNORA61, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD128, SNORD167, SNORD99, SNRNP40, SPATA21, SPEN, SPOCD1, SPSB1, SRARP, SRM, SRRM1, SRSF10, SRSF4, SSU72, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, SZRD1, TAF12, TAF12-DT, TARDBP, TAS1R1, TAS1R2, TAS1R3, TCEA3, TENT5B, TEX46, THAP3, THEMIS2, TINAGL1, TMCO4, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM54, TMEM82, TMEM88B, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TP73, TPRG1L, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRIM62, TRIM63, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRNAU1AP, TRNP1, TSSK3, TTC34, TTLL10, TXLNA, UBE2J2, UBE4B, UBIAD1, UBR4, UBXN10, UBXN11, UQCRHL, USP48, UTS2, VAMP3, VPS13D, VWA1, VWA5B1, WASF2, WDTC1, WDTC1-DT, WNT4, WRAP73, XKR8, YARS1, YTHDF2, ZBTB17, ZBTB40, ZBTB48, ZBTB8A, ZBTB8B, ZBTB8OS, ZCCHC17, ZDHHC18, ZNF362, ZNF436, ZNF593, ZNF593OS, ZNF683, ZPLD2P, ZSCAN20 1 1

Submitter and significance breakdown #

Total submitters: 2
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Submitter pathogenic total
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 1 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 1 1

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