U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 279

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:207519987-249224684
GRCh38:
Chr1:207346642-248930485
ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, C1orf74, CAMK1G, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CD34, CD46, CD55, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, CR1, CR1L, CR2, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, G0S2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LAMB3, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01696, LINC01698, LINC01703, LINC01710, LINC01717, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02767, LINC02768, LINC02769, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02814, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC102724446, LOC105373209, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577533, LOC112577534, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804244, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149487, LOC122149488, LOC122149489, LOC122149490, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126805994, LOC126805995, LOC126805996, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC129932972, LOC132088616, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090672, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132090677, LOC132205953, LOC148696, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR205, MIR205HG, MIR215, MIR29B2, MIR29B2CHG, MIR29C, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4260, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PLXNA2, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF3IP3, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF692-DT, ZNF695, ZP4, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC129388733, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129388772, LOC129388773, LOC129388774, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129869688, LOC129929020, LOC129932398, LOC129932399, LOC129932400, LOC129932401, LOC129932402, LOC129932403, LOC129932404, LOC129932405, LOC129932406, LOC129932407, LOC129932408, LOC129932409, LOC129932410, LOC129932411, LOC129932412, LOC129932413, LOC129932414, LOC129932415, LOC129932416, LOC129932417, LOC129932418, LOC129932419, LOC129932420, LOC129932421, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC129932724, LOC129932725, LOC129932726, LOC129932727, LOC129932728, LOC129932729, LOC129932730, LOC129932731, LOC129932732, LOC129932733, LOC129932734, LOC129932735, LOC129932736, LOC129932737, LOC129932738, LOC129932739, LOC129932740, LOC129932741, LOC129932742, LOC129932743, LOC129932744, LOC129932745, LOC129932746, LOC129932747, LOC129932748, LOC129932749, LOC129932750, LOC129932751, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
2.
GRCh38:
Chr1:208430918-228938006
LOC126806029, LOC129932471, LOC129932479, LOC129932480, LOC129932481, LOC129932483, LOC129932484, LOC129932485, LOC129932477, LOC129932478, LOC129932482, LOC129932486, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC128772240, LOC128772244, LOC128772245, LOC128772241, LOC128772242, LOC128772243, LOC126805997, LOC126805998, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC129388734, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129932422, LOC129932423, LOC129932424, LOC129932425, LOC129932426, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC132088617, LOC132088618, LOC132088619, LOC132088620, LOC132088621, LOC132088622, LOC132088623, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132090673, LOC132090674, LOC132090675, LOC132090676, LOC132205953, LPGAT1, LPGAT1-AS1, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, MARK1, MIA3, MIR194-1, MIR205, MIR205HG, MIR215, MIR3122, MIR320B2, MIR3620, MIR4260, MIR4666A, MIR4742, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MTARC1, MTARC2, NEK2, NEK2-DT, NENF, NSL1, NTRAS, NVL, OBSCN, OBSCN-AS1, PACC1, PARP1, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RCOR3, RD3, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, SDE2, SERTAD4, SERTAD4-AS1, SLC30A1, SLC30A10, SMYD2, SNAP47, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TATDN3, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TP53BP2, TRAF3IP3, TRAF5, TRIM11, TRIM17, TRT-TGT2-1, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, WDR26, WNT3A, WNT9A, ZC3H11B, ZNF678, ACBD3, ACBD3-AS1, AIDA, ANGEL2, ARF1, ATF3, BATF3, BPNT1, BROX, BTNL10, C1orf115, C1orf35, C1orf74, CAMK1G, CAPN2, CAPN8, CCDC185, CDC42BPA, CENPF, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, COQ8A, DEGS1, DISP1, DNAH14, DTL, DUSP10, ENAH, EPHX1, EPRS1, ESRRG, FAM177B, FBXO28, FLVCR1, FLVCR1-DT, G0S2, GARIN4, GJC2, GPATCH2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HHAT, HHIPL2, HLX, HLX-AS1, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK2, KCTD3, LAMB3, LBR, LEFTY1, LEFTY2, LIN9, LINC00210, LINC00467, LINC00538, LINC01352, LINC01641, LINC01653, LINC01655, LINC01696, LINC01698, LINC01703, LINC01710, LINC01717, LINC01740, LINC01774, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02769, LINC02771, LINC02773, LINC02779, LINC02809, LINC02817, LINC02869, LOC101927143, LOC101927164, LOC105373289, LOC107325941, LOC107325942, LOC107985355, LOC110120610, LOC110120807, LOC110121042, LOC110121057, LOC110121257, LOC110121306, LOC110121307, LOC111429604, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC113939983, LOC113939984, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC126805996
Orofacial cleft 2associationno assertion criteria provided
3.
GRCh37:
Chr1:209819552-249225312
GRCh38:
Chr1:209646207-248931113
OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF3IP3, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, UTP25, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF692-DT, ZNF695, ZP4, LINC02897, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC102724446, LOC105373209, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110120807, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939983, LOC113939984, LOC113939987, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908903, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126805999, LOC126806000, LOC126806001, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC129388735, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129388772, LOC129388773, LOC129388774, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129869688, LOC129929020, LOC129932427, LOC129932428, LOC129932429, LOC129932430, LOC129932431, LOC129932432, LOC129932433, LOC129932434, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC129932492, LOC129932493, LOC129932494, LOC129932495, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, C1orf74, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, EGLN1, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, G0S2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, HSD11B1, HSD11B1-AS1, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, IRF6, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LAMB3, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01703, LINC01710, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02768, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02814, LINC02815, LINC02817, LINC02869, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC129932724, LOC129932725, LOC129932726, LOC129932727, LOC129932728, LOC129932729, LOC129932730, LOC129932731, LOC129932732, LOC129932733, LOC129932734, LOC129932735, LOC129932736, LOC129932737, LOC129932738, LOC129932739, LOC129932740, LOC129932741, LOC129932742, LOC129932743, LOC129932744, LOC129932745, LOC129932746, LOC129932747, LOC129932748, LOC129932749, LOC129932750, LOC129932751, LOC129932752, LOC129932753, LOC129932754, LOC129932755, LOC129932756, LOC129932757, LOC129932758, LOC129932759, LOC129932760, LOC129932761, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932775, LOC129932776, LOC129932777, LOC129932778, LOC129932779, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932793, LOC129932794, LOC129932795, LOC129932796, LOC129932797, LOC129932798, LOC129932799, LOC129932800, LOC129932801, LOC129932802, LOC129932803, LOC129932804, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932813, LOC129932814, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932820, LOC129932821, LOC129932822, LOC129932823, LOC129932824, LOC129932825, LOC129932826, LOC129932827, LOC129932828, LOC129932829, LOC129932830, LOC129932831, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932842, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932848, LOC129932849, LOC129932850, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932859, LOC129932860, LOC129932861, LOC129932862, LOC129932863, LOC129932864, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932870, LOC129932871, LOC129932872, LOC129932873, LOC129932874, LOC129932875, LOC129932876, LOC129932877, LOC129932878, LOC129932879, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932892, LOC129932893, LOC129932894, LOC129932895, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932901, LOC129932902, LOC129932903, LOC129932904, LOC129932905, LOC129932906, LOC129932907, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932912, LOC129932913, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932919, LOC129932920, LOC129932921, LOC129932922, LOC129932923, LOC129932924, LOC129932925, LOC129932926, LOC129932927, LOC129932928, LOC129932929, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932945, LOC129932946, LOC129932947, LOC129932948, LOC129932949, LOC129932950, LOC129932951, LOC129932952, LOC129932953, LOC129932954, LOC129932955, LOC129932956, LOC129932957, LOC129932958, LOC129932959, LOC129932960, LOC129932961, LOC129932962, LOC129932963, LOC129932964, LOC129932965, LOC129932966, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC129932972, LOC132088627, LOC132088628, LOC132088629, LOC132088630, LOC132088631, LOC132088632, LOC132088633, LOC132088634, LOC132088635, LOC132088636, LOC132088637, LOC132088638, LOC132088639, LOC132088640, LOC132088641, LOC132088644, LOC132088646, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088659, LOC132088660, LOC132088661, LOC132088662, LOC132088663, LOC132088664, LOC132088666, LOC132088667, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090675, LOC132090676, LOC132090677, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR215, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:210136970-249212668
GRCh38:
Chr1:209963625-248918469
LOC129932493, LOC129932494, LOC129932510, LOC129932511, LOC129932523, LOC129932524, LOC129932537, LOC129932538, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932565, LOC129932579, LOC129932580, LOC129932590, LOC129932591, LOC129932604, LOC129932605, LOC129932621, LOC129932622, LOC129932636, LOC129932649, LOC129932650, LOC129932662, LOC129932663, LOC129932676, LOC129932677, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932710, LOC129932711, LOC129932712, LOC129932723, LOC129932724, LOC129932725, LOC129932740, LOC129932741, LOC129932742, LOC129932758, LOC129932759, LOC129932775, LOC129932776, LOC129932793, LOC129932794, LOC129932795, LOC129932809, LOC129932810, LOC129932811, LOC129932812, LOC129932826, LOC129932827, LOC129932828, LOC129932842, LOC129932859, LOC129932860, LOC129932861, LOC129932878, LOC129932879, LOC129932892, LOC129932893, LOC129932908, LOC129932909, LOC129932910, LOC129932911, LOC129932927, LOC129932928, LOC129932929, LOC129932945, LOC129932946, LOC129932958, LOC129932959, LOC132088631, LOC132088632, LOC132088646, LOC132088659, LOC132088660, LOC132088667, LOC132088647, LOC132088648, LOC132088649, LOC132088650, LOC132088651, LOC132088652, LOC132088653, LOC132088654, LOC132088656, LOC132088657, LOC132088658, LOC132088661, LOC132088662, LOC132088663, LOC132088633, LOC132088634, LOC132088640, LOC132088635, LOC132088636, LOC129932967, LOC129932968, LOC129932969, LOC129932970, LOC129932971, LOC132088637, LOC132088638, LOC132088639, LOC132088641, LOC132088644, LOC132088664, LOC132088666, LOC129932950, LOC129932951, LOC129932954, LOC129932955, LOC129932952, LOC129932953, LOC129932956, LOC129932957, LOC129932960, LOC129932961, LOC129932962, LOC132088629, LOC132088630, LOC129932963, LOC129932930, LOC129932931, LOC129932932, LOC129932933, LOC129932934, LOC129932935, LOC129932936, LOC129932937, LOC129932938, LOC129932939, LOC129932940, LOC129932922, LOC129932923, LOC129932941, LOC129932942, LOC129932943, LOC129932944, LOC129932964, LOC129932965, LOC129932966, LOC129932947, LOC129932948, LOC129932949, LOC129932912, LOC129932913, LOC129932906, LOC129932907, LOC129932896, LOC129932897, LOC129932898, LOC129932899, LOC129932900, LOC129932903, LOC129932904, LOC129932905, LOC129932924, LOC129932925, LOC129932926, LOC129932914, LOC129932915, LOC129932916, LOC129932917, LOC129932918, LOC129932880, LOC129932881, LOC129932882, LOC129932883, LOC129932884, LOC129932885, LOC129932886, LOC129932887, LOC129932888, LOC129932889, LOC129932890, LOC129932891, LOC129932919, LOC129932920, LOC129932921, LOC129932894, LOC129932895, LOC129932901, LOC129932902, LOC129932862, LOC129932863, LOC129932864, LOC129932870, LOC129932871, LOC129932872, LOC129932855, LOC129932856, LOC129932857, LOC129932858, LOC129932851, LOC129932852, LOC129932853, LOC129932854, LOC129932873, LOC129932874, LOC129932865, LOC129932866, LOC129932867, LOC129932868, LOC129932869, LOC129932829, LOC129932832, LOC129932833, LOC129932834, LOC129932835, LOC129932830, LOC129932831, LOC129932836, LOC129932837, LOC129932838, LOC129932839, LOC129932840, LOC129932841, LOC129932875, LOC129932876, LOC129932877, LOC129932843, LOC129932844, LOC129932845, LOC129932846, LOC129932847, LOC129932813, LOC129932820, LOC129932821, LOC129932822, LOC129932814, LOC129932805, LOC129932806, LOC129932807, LOC129932808, LOC129932815, LOC129932816, LOC129932817, LOC129932818, LOC129932819, LOC129932823, LOC129932824, LOC129932825, LOC129932848, LOC129932849, LOC129932850, LOC129932780, LOC129932781, LOC129932782, LOC129932783, LOC129932784, LOC129932785, LOC129932786, LOC129932787, LOC129932788, LOC129932789, LOC129932790, LOC129932791, LOC129932792, LOC129932796, LOC129932797, LOC129932798, LOC129932802, LOC129932803, LOC129932804, LOC129932760, LOC129932761, LOC129932768, LOC129932769, LOC129932770, LOC129932771, LOC129932772, LOC129932773, LOC129932774, LOC129932753, LOC129932754, LOC129932755, LOC129932762, LOC129932763, LOC129932764, LOC129932765, LOC129932766, LOC129932767, LOC129932799, LOC129932800, LOC129932801, LOC129932777, LOC129932778, LOC129932779, LOC129932743, LOC129932744, LOC129932727, LOC129932728, LOC129932729, LOC129932730, LOC129932731, LOC129932732, LOC129932733, LOC129932734, LOC129932735, LOC129932736, LOC129932737, LOC129932745, LOC129932746, LOC129932747, LOC129932748, LOC129932749, LOC129932756, LOC129932757, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932750, LOC129932751, LOC129932752, LOC129932720, LOC129932699, LOC129932700, LOC129932703, LOC129932704, LOC129932705, LOC129932696, LOC129932697, LOC129932698, LOC129932701, LOC129932702, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932721, LOC129932722, LOC129932726, LOC129932678, LOC129932679, LOC129932680, LOC129932685, LOC129932686, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932674, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932738, LOC129932739, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932672, LOC129932673, LOC129932675, LOC129932669, LOC129932670, LOC129932671, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932644, LOC129932645, LOC129932646, LOC129932643, LOC129932647, LOC129932648, LOC129932651, LOC129932658, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932659, LOC129932660, LOC129932661, LOC129932637, LOC129932638, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932598, LOC129932599, LOC129932602, LOC129932603, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932592, LOC129932593, LOC129932584, LOC129932589, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932600, LOC129932601, LOC129932594, LOC129932595, LOC129932566, LOC129932567, LOC129932572, LOC129932573, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932596, LOC129932597, LOC129932581, LOC129932582, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932548, LOC129932549, LOC129932550, LOC129932563, LOC129932564, LOC129932583, LOC129932539, LOC129932542, LOC129932543, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932535, LOC129932536, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932540, LOC129932541, LOC129932518, LOC129932519, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932520, LOC129932521, LOC129932522, LOC129932525, LOC129932526, LOC129932533, LOC129932534, LOC129932495, LOC129932496, LOC129932504, LOC129932505, LOC129932506, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932492, LOC129932507, LOC129932508, LOC129932509, LOC129932527, LOC129932528, LOC129932512, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DTL, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FLVCR1, FLVCR1-DT, FMN2, GALNT2, GARIN4, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHAT, HHIPL2, HLX, HLX-AS1, HNRNPU, IARS2, IBA57, IBA57-DT, INTS7, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNH1, KCNH1-IT1, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00467, LINC00538, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01703, LINC01710, LINC01736, LINC01737, LINC01740, LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02602, LINC02608, LINC02765, LINC02768, LINC02771, LINC02773, LINC02774, LINC02779, LINC02809, LINC02814, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC102724446, LOC105373209, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120610, LOC110120698, LOC110121042, LOC110121057, LOC110121205, LOC110121251, LOC110121257, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577535, LOC112577536, LOC112577537, LOC112577538, LOC112577542, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939984, LOC113939987, LOC115804245, LOC115804246, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908904, LOC120908905, LOC120908906, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725072, LOC121725073, LOC121725074, LOC121725075, LOC121725076, LOC122149491, LOC122149492, LOC122149493, LOC122149494, LOC122149495, LOC122149496, LOC122149497, LOC122152293, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806002, LOC126806003, LOC126806004, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC129388736, LOC129388737, LOC129388738, LOC129388739, LOC129388740, LOC129388741, LOC129388742, LOC129388743, LOC129388744, LOC129388745, LOC129388746, LOC129388747, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129388772, LOC129388773, LOC129388774, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129869688, LOC129929020, LOC129932435, LOC129932436, LOC129932437, LOC129932438, LOC129932439, LOC129932440, LOC129932441, LOC129932442, LOC129932443, LOC129932444, LOC129932445, LOC129932446, LOC129932447, LOC129932448, LOC129932449, LOC129932450, LOC129932451, LOC129932452, LOC129932453, LOC129932454, LOC129932455, LOC129932456, LOC129932457, LOC129932458, LOC129932459, LOC129932460, LOC129932461, LOC129932462, LOC129932463, LOC129932464, LOC129932465, LOC129932466, LOC129932467, LOC129932468, LOC129932469, LOC129932470, LOC129932471, LOC129932472, LOC129932473, LOC129932474, LOC129932475, LOC129932476, LOC129932477, LOC129932478, LOC129932479, LOC129932480, LOC129932481, LOC129932482, LOC129932483, LOC129932484, LOC129932485, LOC129932486, LOC129932487, LOC129932488, LOC129932489, LOC129932490, LOC129932491, LOC132088670, LOC132088671, LOC132088673, LOC132088674, LOC132088676, LOC132088677, LOC132088678, LOC132088679, LOC132088680, LOC132088681, LOC132088683, LOC132088684, LOC132088685, LOC132088686, LOC132090675, LOC132090676, LOC132090677, LOC440742, LPGAT1, LPGAT1-AS1, LYPD8, LYPLAL1, LYPLAL1-AS1, LYPLAL1-DT, LYST, MAP10, MAP1LC3C, MAP3K21, MARK1, MIA3, MIR1182, MIR1537, MIR194-1, MIR215, MIR3122, MIR3123, MIR3124, MIR320B2, MIR3620, MIR3916, MIR4427, MIR4428, MIR4666A, MIR4671, MIR4677, MIR4742, MIR4753, MIR5008, MIR664A, MIR6741, MIR6742, MIXL1, MRPL55, MT1HL1, MTARC1, MTARC2, MTR, NEK2, NEK2-DT, NENF, NID1, NLRP3, NSL1, NTPCR, NTRAS, NUP133, NUP133-DT, NVL, OBSCN, OBSCN-AS1, OPN3, OR11L1, OR13G1, OR14A16, OR14A2, OR14C36, OR14I1, OR14K1, OR14L1, OR1C1, OR2AJ1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T7, OR2T8, OR2W3, OR6F1, OR9H1P, PACC1, PARP1, PCNX2, PGBD2, PGBD5, PLD5, PPP2R5A, PROX1, PROX1-AS1, PRSS38, PSEN2, PTPN14, PYCR2, RAB3GAP2, RAB4A, RAB4A-AS1, RBM34, RCOR3, RD3, RGS7, RHOU, RNA5S1, RNA5S10, RNA5S11, RNA5S12, RNA5S13, RNA5S14, RNA5S15, RNA5S16, RNA5S17, RNA5S2, RNA5S3, RNA5S4, RNA5S5, RNA5S6, RNA5S7, RNA5S8, RNA5S9, RNF187, RPS6KC1, RRP15, RYR2, SCCPDH, SDCCAG8, SDE2, SERTAD4, SERTAD4-AS1, SH3BP5L, SIPA1L2, SLC30A1, SLC30A10, SLC35F3, SLC35F3-AS1, SMYD2, SMYD3, SMYD3-AS1, SNAP47, SNORA100, SNORA14B, SNORA16B, SNORA36B, SPATA17, SPATA17-AS1, SPATA45, SPHAR, SPMIP3, SPRTN, SRP9, STUM, SUSD4, SYT14, TAF1A, TAF1A-AS1, TAF5L, TARBP1, TATDN3, TBCE, TFB2M, TGFB2, TGFB2-AS1, TGFB2-OT1, TLR5, TMEM63A, TMEM78, TOMM20, TP53BP2, TRAF5, TRE-CTC2-1, TRIM11, TRIM17, TRIM58, TRIM67, TRIM67-AS1, TRL-CAA4-1, TRT-TGT2-1, TSNAX, TSNAX-DISC1, TTC13, URB2, USH2A, USH2A-AS1, USH2A-AS2, VASH2, VN1R5, WDR26, WDR64, WNT3A, WNT9A, ZBTB18, ZC3H11B, ZNF124, ZNF496, ZNF496-DT, ZNF669, ZNF670, ZNF670-ZNF695, ZNF672, ZNF678, ZNF692, ZNF692-DT, ZNF695, ZP4, ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ANGEL2, ARF1, ARID4B, ARV1, ATF3, B3GALNT2, BATF3, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1
See casesPathogenic
(Jan 5, 2011)
no assertion criteria provided
5.
GRCh37:
Chr1:214197155-249212668
GRCh38:
Chr1:214023812-248918469
ABCB10, ACBD3, ACBD3-AS1, ACTA1, ACTN2, ADSS2, AGT, AHCTF1, AIDA, AKT3, AKT3-IT1, ARF1, ARID4B, ARV1, B3GALNT2, BECN2, BPNT1, BROX, BTNL10, C1orf115, C1orf131, C1orf198, C1orf202, C1orf35, CAPN2, CAPN8, CAPN9, CATSPERE, CCDC185, CCSAP, CDC42BPA, CENPF, CEP170, CHML, CHRM3, CHRM3-AS1, CHRM3-AS2, CNIH3, CNIH3-AS1, CNIH3-AS2, CNIH4, CNST, COA6, COA6-AS1, COG2, COQ8A, COX20, DEGS1, DESI2, DISC1, DISC1-IT1, DISC2, DISP1, DNAH14, DUSP10, EDARADD, EFCAB2, EGLN1, ENAH, EPHX1, EPRS1, ERO1B, ESRRG, EXO1, EXOC8, FAM177B, FAM89A, FBXO28, FH, FLJ39095, FMN2, GALNT2, GCSAML, GCSAML-AS1, GGPS1, GJC2, GNG4, GNPAT, GPATCH2, GPR137B, GREM2, GUK1, H2AC25, H2BC26, H3-3A, H3-3A-DT, H3-4, HEATR1, HHIPL2, HLX, HLX-AS1, HNRNPU, IARS2, IBA57, IBA57-DT, IRF2BP2, ITPKB, ITPKB-IT1, JMJD4, KCNK1, KCNK2, KCTD3, KIF26B, KIF26B-AS1, KMO, LBR, LEFTY1, LEFTY2, LGALS8, LGALS8-AS1, LIN9, LINC00184, LINC00210, LINC00582, LINC01132, LINC01139, LINC01341, LINC01347, LINC01348, LINC01352, LINC01354, LINC01641, LINC01653, LINC01655, LINC01682, LINC01703, LINC01710, LINC01736, LINC01737, LINC01743, LINC01744, LINC01745, LINC02257, LINC02474, LINC02765, LINC02768, LINC02774, LINC02779, LINC02809, LINC02814, LINC02815, LINC02817, LINC02869, LINC02897, LINC02961, LINC02971, LINC03108, LNCATV, LOC100506929, LOC101927143, LOC101927164, LOC101927604, LOC101927787, LOC101928068, LOC102724446, LOC105373209, LOC105373289, LOC107325941, LOC107325942, LOC107546745, LOC107546746, LOC107546747, LOC107546778, LOC107546780, LOC107548103, LOC107985355, LOC108004528, LOC110120698, LOC110121042, LOC110121205, LOC110121251, LOC110121263, LOC110121264, LOC110121265, LOC110121266, LOC110121306, LOC110121307, LOC111365197, LOC111365208, LOC111429604, LOC111828504, LOC112577543, LOC112577544, LOC112577545, LOC112577546, LOC112577547, LOC112577548, LOC112577552, LOC112577554, LOC112577555, LOC112577556, LOC112577557, LOC112577558, LOC112577559, LOC112577560, LOC112577561, LOC112577565, LOC112577566, LOC112577567, LOC112577568, LOC112577569, LOC113939987, LOC115804247, LOC115804248, LOC115804249, LOC115804250, LOC115804251, LOC115804252, LOC115804253, LOC115804254, LOC115804255, LOC115804256, LOC120807606, LOC120807610, LOC120908907, LOC120908908, LOC120908909, LOC120908910, LOC120908911, LOC120908912, LOC120908913, LOC120908914, LOC120908915, LOC120908916, LOC120908917, LOC120908918, LOC120908919, LOC120908920, LOC120908921, LOC120908922, LOC120908923, LOC120947224, LOC121725074, LOC121725075, LOC121725076, LOC122152294, LOC122152295, LOC122152296, LOC122152297, LOC122152298, LOC122152299, LOC122152300, LOC122152301, LOC122152302, LOC122152303, LOC122152304, LOC122152305, LOC122152306, LOC122152307, LOC122152308, LOC122152309, LOC122152310, LOC122152311, LOC122152312, LOC122152313, LOC122152314, LOC122152315, LOC122152316, LOC122152317, LOC122152318, LOC122152319, LOC122152320, LOC122152321, LOC122152322, LOC122152332, LOC122152333, LOC122152334, LOC122152335, LOC122152336, LOC122152337, LOC122152338, LOC122152339, LOC122152340, LOC122152341, LOC122152342, LOC122152343, LOC122152344, LOC122152345, LOC122152346, LOC122152347, LOC122152348, LOC122152349, LOC122152350, LOC122152351, LOC122152352, LOC122152353, LOC122152354, LOC122152355, LOC122152356, LOC122152357, LOC122152358, LOC122152359, LOC122152360, LOC122152361, LOC122152362, LOC122526782, LOC126264117, LOC126806005, LOC126806006, LOC126806007, LOC126806008, LOC126806009, LOC126806010, LOC126806011, LOC126806012, LOC126806013, LOC126806014, LOC126806015, LOC126806016, LOC126806017, LOC126806018, LOC126806019, LOC126806020, LOC126806021, LOC126806022, LOC126806023, LOC126806024, LOC126806025, LOC126806026, LOC126806027, LOC126806028, LOC126806029, LOC126806030, LOC126806031, LOC126806032, LOC126806033, LOC126806034, LOC126806035, LOC126806036, LOC126806037, LOC126806038, LOC126806039, LOC126806040, LOC126806041, LOC126806042, LOC126806043, LOC126806044, LOC126806045, LOC126806046, LOC126806047, LOC126806048, LOC126806049, LOC126806050, LOC126806051, LOC126806052, LOC126806053, LOC126806054, LOC126806055, LOC126806056, LOC126806057, LOC126806058, LOC126806059, LOC126806060, LOC126806061, LOC126806062, LOC126806063, LOC126806064, LOC126806065, LOC126806066, LOC126806067, LOC126806068, LOC126806069, LOC126806070, LOC126806071, LOC126806072, LOC126806073, LOC126806074, LOC126806075, LOC126806076, LOC126806077, LOC126806078, LOC126806079, LOC126806080, LOC126806081, LOC126806082, LOC126806083, LOC126806084, LOC126806085, LOC126806086, LOC126806087, LOC126806088, LOC126806089, LOC126806090, LOC128598893, LOC128598894, LOC128635606, LOC128635607, LOC128772240, LOC128772241, LOC128772242, LOC128772243, LOC128772244, LOC128772245, LOC129388748, LOC129388749, LOC129388750, LOC129388751, LOC129388752, LOC129388753, LOC129388754, LOC129388755, LOC129388756, LOC129388757, LOC129388758, LOC129388759, LOC129388760, LOC129388761, LOC129388762, LOC129388763, LOC129388764, LOC129388765, LOC129388766, LOC129388767, LOC129388768, LOC129388769, LOC129388770, LOC129388771, LOC129388772, LOC129388773, LOC129388774, LOC129388775, LOC129388776, LOC129388777, LOC129388778, LOC129388779, LOC129388780, LOC129388781, LOC129388782, LOC129388783, LOC129388784, LOC129388785, LOC129388786, LOC129388787, LOC129388788, LOC129388789, LOC129388790, LOC129388791, LOC129388792, LOC129388793, LOC129388794, LOC129388795, LOC129388796, LOC129388797, LOC129388798, LOC129388799, LOC129388800, LOC129388801, LOC129388802, LOC129388803, LOC129388804, LOC129388805, LOC129388806, LOC129388807, LOC129388808, LOC129388809, LOC129388810, LOC129388811, LOC129388812, LOC129388813, LOC129869688, LOC129929020, LOC129932496, LOC129932497, LOC129932498, LOC129932499, LOC129932500, LOC129932501, LOC129932502, LOC129932503, LOC129932504, LOC129932505, LOC129932506, LOC129932507, LOC129932508, LOC129932509, LOC129932510, LOC129932511, LOC129932512, LOC129932513, LOC129932514, LOC129932515, LOC129932516, LOC129932517, LOC129932518, LOC129932519, LOC129932520, LOC129932521, LOC129932522, LOC129932523, LOC129932524, LOC129932525, LOC129932526, LOC129932527, LOC129932528, LOC129932529, LOC129932530, LOC129932531, LOC129932532, LOC129932533, LOC129932534, LOC129932535, LOC129932536, LOC129932537, LOC129932538, LOC129932539, LOC129932540, LOC129932541, LOC129932542, LOC129932543, LOC129932544, LOC129932545, LOC129932546, LOC129932547, LOC129932548, LOC129932549, LOC129932550, LOC129932551, LOC129932552, LOC129932553, LOC129932554, LOC129932555, LOC129932556, LOC129932557, LOC129932558, LOC129932559, LOC129932560, LOC129932561, LOC129932562, LOC129932563, LOC129932564, LOC129932565, LOC129932566, LOC129932567, LOC129932568, LOC129932569, LOC129932570, LOC129932571, LOC129932572, LOC129932573, LOC129932574, LOC129932575, LOC129932576, LOC129932577, LOC129932578, LOC129932579, LOC129932580, LOC129932581, LOC129932582, LOC129932583, LOC129932584, LOC129932585, LOC129932586, LOC129932587, LOC129932588, LOC129932589, LOC129932590, LOC129932591, LOC129932592, LOC129932593, LOC129932594, LOC129932595, LOC129932596, LOC129932597, LOC129932598, LOC129932599, LOC129932600, LOC129932601, LOC129932602, LOC129932603, LOC129932604, LOC129932605, LOC129932606, LOC129932607, LOC129932608, LOC129932609, LOC129932610, LOC129932611, LOC129932612, LOC129932613, LOC129932614, LOC129932615, LOC129932616, LOC129932617, LOC129932618, LOC129932619, LOC129932620, LOC129932621, LOC129932622, LOC129932623, LOC129932624, LOC129932625, LOC129932626, LOC129932627, LOC129932628, LOC129932629, LOC129932630, LOC129932631, LOC129932632, LOC129932633, LOC129932634, LOC129932635, LOC129932636, LOC129932637, LOC129932638, LOC129932639, LOC129932640, LOC129932641, LOC129932642, LOC129932643, LOC129932644, LOC129932645, LOC129932646, LOC129932647, LOC129932648, LOC129932649, LOC129932650, LOC129932651, LOC129932652, LOC129932653, LOC129932654, LOC129932655, LOC129932656, LOC129932657, LOC129932658, LOC129932659, LOC129932660, LOC129932661, LOC129932662, LOC129932663, LOC129932664, LOC129932665, LOC129932666, LOC129932667, LOC129932668, LOC129932669, LOC129932670, LOC129932671, LOC129932672, LOC129932673, LOC129932674, LOC129932675, LOC129932676, LOC129932677, LOC129932678, LOC129932679, LOC129932680, LOC129932681, LOC129932682, LOC129932683, LOC129932684, LOC129932685, LOC129932686, LOC129932687, LOC129932688, LOC129932689, LOC129932690, LOC129932691, LOC129932692, LOC129932693, LOC129932694, LOC129932695, LOC129932696, LOC129932697, LOC129932698, LOC129932699, LOC129932700, LOC129932701, LOC129932702, LOC129932703, LOC129932704, LOC129932705, LOC129932706, LOC129932707, LOC129932708, LOC129932709, LOC129932710, LOC129932711, LOC129932712, LOC129932713, LOC129932714, LOC129932715, LOC129932716, LOC129932717, LOC129932718, LOC129932719, LOC129932720, LOC129932721, LOC129932722, LOC129932723, LOC129932724, LOC129932725, LOC129932726, LOC129932727, LOC129932728, LOC129932729, LOC129932730,