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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:52933095-90155062
GRCh38:
Chr16:52899183-90088654
LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC130059479, LOC130059480, LOC130059481, LOC130059482, LOC130059483, LOC130059484, LOC130059485, LOC130059486, LOC130059487, LOC130059488, LOC130059489, LOC130059490, LOC130059491, LOC130059492, LOC130059493, LOC130059494, LOC130059495, LOC130059496, LOC130059497, LOC130059498, LOC130059499, LOC130059500, LOC130059501, LOC130059502, LOC130059503, LOC130059504, LOC130059505, LOC130059506, LOC130059507, LOC130059508, LOC130059509, LOC130059510, LOC130059511, LOC130059512, LOC130059513, LOC130059514, LOC130059515, LOC130059516, LOC130059517, LOC130059518, LOC130059519, LOC130059520, LOC130059521, LOC130059522, LOC130059523, LOC130059524, LOC130059525, LOC130059526, LOC130059527, LOC130059528, LOC130059529, LOC130059530, LOC130059531, LOC130059532, LOC130059533, LOC130059534, LOC130059535, LOC130059536, LOC130059537, LOC130059538, LOC130059539, LOC130059540, LOC130059541, LOC130059542, LOC130059543, LOC130059544, LOC130059545, LOC130059546, LOC130059547, LOC130059548, LOC130059549, LOC130059550, LOC130059551, LOC130059552, LOC130059553, LOC130059554, LOC130059555, LOC130059556, LOC130059557, LOC130059558, LOC130059559, LOC130059560, LOC130059561, LOC130059562, LOC130059563, LOC130059564, LOC130059565, LOC130059566, LOC130059567, LOC130059568, LOC130059569, LOC130059570, LOC130059571, LOC130059572, LOC130059573, LOC130059574, LOC130059575, LOC130059576, LOC130059577, LOC130059578, LOC130059579, LOC130059580, LOC130059581, LOC130059582, LOC130059583, LOC130059584, LOC130059585, LOC130059586, LOC130059587, LOC130059588, LOC130059589, LOC130059590, LOC130059591, LOC130059592, LOC130059593, LOC130059594, LOC130059595, LOC130059596, LOC130059597, LOC130059598, LOC130059599, LOC130059600, LOC130059601, LOC130059602, LOC130059603, LOC130059604, LOC130059605, LOC130059606, LOC130059607, LOC130059608, LOC130059609, LOC130059610, LOC130059611, LOC130059612, LOC130059613, LOC130059614, LOC130059615, LOC130059616, LOC130059617, LOC130059618, LOC130059619, LOC130059620, LOC130059621, LOC130059622, LOC130059623, LOC130059624, LOC130059625, LOC130059626, LOC130059627, LOC130059628, LOC130059629, LOC130059630, LOC130059631, LOC130059632, LOC130059633, LOC130059634, LOC130059635, LOC130059636, LOC130059637, LOC130059638, LOC130059639, LOC130059640, LOC130059641, LOC130059642, LOC130059643, LOC130059644, LOC130059645, LOC130059646, LOC130059647, LOC130059648, LOC130059649, LOC130059650, LOC130059651, LOC130059652, LOC130059653, LOC130059654, LOC130059655, LOC130059656, LOC130059657, LOC130059658, LOC130059659, LOC130059660, LOC130059661, LOC130059662, LOC130059663, LOC130059664, LOC130059665, LOC130059666, LOC130059667, LOC130059668, LOC130059669, LOC130059670, LOC130059671, LOC130059672, LOC130059673, LOC130059674, LOC130059675, LOC130059676, LOC130059677, LOC130059678, LOC130059679, LOC130059680, LOC130059681, LOC130059682, LOC130059683, LOC130059684, LOC130059685, LOC130059686, LOC130059687, LOC130059688, LOC130059689, LOC130059690, LOC130059691, LOC130059692, LOC130059693, LOC130059694, LOC130059695, LOC130059696, LOC130059697, LOC130059698, LOC130059699, LOC130059700, LOC130059701, LOC130059702, LOC130059703, LOC130059704, LOC130059705, LOC130059706, LOC130059707, LOC130059708, LOC130059709, LOC130059710, LOC130059711, LOC130059712, LOC130059713, LOC130059714, LOC130059715, LOC130059716, LOC130059717, LOC130059718, LOC130059719, LOC130059720, LOC130059721, LOC130059722, LOC130059723, LOC130059724, LOC130059725, LOC130059726, LOC130059727, LOC130059728, LOC130059729, LOC130059730, LOC130059731, LOC130059732, LOC130059733, LOC130059734, LOC130059735, LOC130059736, LOC130059737, LOC130059738, LOC130059739, LOC130059740, LOC130059741, LOC130059742, LOC130059743, LOC130059744, LOC130059745, LOC130059746, LOC130059747, LOC130059748, LOC130059749, LOC130059750, LOC130059751, LOC130059752, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, LOC130059761, LOC130059762, LOC130059763, LOC130059764, LOC130059765, LOC130059766, LOC130059767, LOC130059768, LOC130059769, LOC130059770, LOC130059771, LOC130059772, LOC130059773, LOC130059774, LOC130059775, LOC130059776, LOC130059777, LOC130059778, LOC130059779, LOC130059780, LOC130059781, LOC130059782, LOC130059783, LOC130059784, LOC130059785, LOC130059786, LOC130059787, LOC130059788, LOC130059789, LOC130059790, LOC130059791, LOC130059792, LOC130059793, LOC130059794, LOC130059795, LOC130059796, LOC130059797, LOC130059798, LOC130059799, LOC130059800, LOC130059801, LOC130059802, LOC130059803, LOC130059804, LOC130059805, LOC130059806, LOC130059807, LOC130059808, LOC130059809, LOC130059810, LOC130059811, LOC130059812, LOC130059813, LOC130059814, LOC130059815, LOC130059816, LOC130059817, LOC130059818, LOC130059819, LOC130059820, LOC130059821, LOC130059822, LOC130059823, LOC130059824, LOC130059825, LOC130059826, LOC130059827, LOC130059828, LOC130059829, LOC130059830, LOC130059831, LOC130059832, LOC130059833, LOC130059834, LOC130059835, LOC130059836, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC130059847, LOC130059848, LOC130059849, LOC130059850, LOC130059851, LOC130059852, LOC130059853, LOC130059854, LOC130059855, LOC130059856, LOC132090381, LOC132090382, LOC132090383, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC132090391, LOC132090392, LOC132090393, LOC132090394, LOC132090395, LOC132090396, LOC132090397, LOC132090398, LOC132090400, LOC132090401, LOC132090402, LOC132090403, LOC132090404, LOC132090405, LOC132090406, LOC132090407, LOC132090408, LOC132090409, LOC132090410, LOC132090411, LOC132090412, LOC132090413, LOC132090414, LOC132090415, LOC132090416, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090436, LOC132090438, LOC132090439, LOC132090440, LOC132090441, LOC132090442, LOC132090443, LOC132090444, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, LOC132090451, LOC132090452, LOC132090453, LOC132090887, LOC132090888, LOC132090889, LOC132090890, LOC132090891, LOC132211112, LOC339059, LOC388282, LOC400541, LOC400553, LOC654780, LOHAN2, LPCAT2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MBTPS1-DT, MC1R, MEAK7, MIR11401, MIR12128, MIR138-2, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR3935, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6772, MIR6773, MIR6774, MIR6775, MIR6863, MIR7854, MIR8058, MLKL, MLYCD, MMP15, MMP2, MMP2-AS1, MON1B, MPHOSPH6, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTSS2, MVD, NAE1, NDRG4, NECAB2, NFAT5, NFATC3, NIP7, NLRC5, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT21, NUDT7, NUP93, NUP93-DT, NUTF2, OGFOD1, OSGIN1, PABPN1L, PARD6A, PCHILR, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PLLP, PMFBP1, POLR2C, PRDM7, PRMT7, PRSS54, PSKH1, PSMB10, PSMD7, PSMD7-DT, PSME3IP1, RANBP10, RBL2, RFWD3, RIPOR1, RNF166, RPGRIP1L, RPL13, RRAD, RSPRY1, SDR42E1, SETD6, SF3B3, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA46, SNORA50A, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, SPMIP8, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRL-CAG2-1, TRL-CAG2-2, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USB1, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF319, ZNF469, ZNF778, ZNF778-DT, ZNF821, ZNRF1, AGRP, AKTIP, AMFR, ANKRD11, AP1G1, APRT, ARL2BP, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BBS2, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CAPNS2, CARMIL2, CBFA2T3, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH16, CDH3, CDH3-AS1, CDH5, CDH8, CDH8-AS1, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP20, CFDP1, CHD9, CHD9NB, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIAPIN1, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNGB1, CNOT1, CNTNAP4, COG4, COG8, COQ9, COTL1, COX4I1, CPHXL, CPHXL2, CPNE2, CPNE7, CRISPLD2, CRNDE, CSNK2A2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DOK4, DPEP1, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, FTO, FTO-IT1, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GINS3, GLG1, GNAO1, GNAO1-AS1, GNAO1-DT, GOT2, GSE1, HAS3, HCCAT5, HERPUD1, HP, HPR, HSALR1, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IRX3, IRX5, IRX6, IST1, JPH3, KARS1, KATNB1, KCNG4, KCTD19, KIAA0513, KIFC3, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02135, LINC02136, LINC02137, LINC02138, LINC02139, LINC02140, LINC02141, LINC02166, LINC02169, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100505942, LOC100506281, LOC101927480, LOC101927556, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102723373, LOC102724467, LOC102725116, LOC105369213, LOC105371296, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120574, LOC110120575, LOC110120576, LOC110120577, LOC110120578, LOC110120579, LOC110120580, LOC110120581, LOC110120824, LOC110120835, LOC110120837, LOC110120838, LOC110120839, LOC110121356, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112449716, LOC112449717, LOC112469003, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847988, LOC121847989, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177313, LOC125177314, LOC125177315, LOC125177316, LOC125177317, LOC125177318, LOC125177319, LOC125177320, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862353, LOC126862354, LOC126862355, LOC126862356, LOC126862357, LOC126862358, LOC126862359, LOC126862360, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, AARS1, ACD, ACSF3, ADAD2, ADAMTS18, ADAT1, ADGRG1, ADGRG3, ADGRG5, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC129390795, LOC129390796, LOC129390797, LOC129390798, LOC129390799, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, LOC129390805, LOC129390806, LOC129390807, LOC129390808, LOC129390809, LOC129390810, LOC129390811, LOC129390812, LOC129390813, LOC129390814, LOC129390815, LOC129390816, LOC129390817, LOC130059018, LOC130059019, LOC130059020, LOC130059021, LOC130059022, LOC130059023, LOC130059024, LOC130059025, LOC130059026, LOC130059027, LOC130059028, LOC130059029, LOC130059030, LOC130059031, LOC130059032, LOC130059033, LOC130059034, LOC130059035, LOC130059036, LOC130059037, LOC130059038, LOC130059039, LOC130059040, LOC130059041, LOC130059042, LOC130059043, LOC130059044, LOC130059045, LOC130059046, LOC130059047, LOC130059048, LOC130059049, LOC130059050, LOC130059051, LOC130059052, LOC130059053, LOC130059054, LOC130059055, LOC130059056, LOC130059057, LOC130059058, LOC130059059, LOC130059060, LOC130059061, LOC130059062, LOC130059063, LOC130059064, LOC130059065, LOC130059066, LOC130059067, LOC130059068, LOC130059069, LOC130059070, LOC130059071, LOC130059072, LOC130059073, LOC130059074, LOC130059075, LOC130059076, LOC130059077, LOC130059078, LOC130059079, LOC130059080, LOC130059081, LOC130059082, LOC130059083, LOC130059084, LOC130059085, LOC130059086, LOC130059087, LOC130059088, LOC130059089, LOC130059090, LOC130059091, LOC130059092, LOC130059093, LOC130059094, LOC130059095, LOC130059096, LOC130059097, LOC130059098, LOC130059099, LOC130059100, LOC130059101, LOC130059102, LOC130059103, LOC130059104, LOC130059105, LOC130059106, LOC130059107, LOC130059108, LOC130059109, LOC130059110, LOC130059111, LOC130059112, LOC130059113, LOC130059114, LOC130059115, LOC130059116, LOC130059117, LOC130059118, LOC130059119, LOC130059120, LOC130059121, LOC130059122, LOC130059123, LOC130059124, LOC130059125, LOC130059126, LOC130059127, LOC130059128, LOC130059129, LOC130059130, LOC130059131, LOC130059132, LOC130059133, LOC130059134, LOC130059135, LOC130059136, LOC130059137, LOC130059138, LOC130059139, LOC130059140, LOC130059141, LOC130059142, LOC130059143, LOC130059144, LOC130059145, LOC130059146, LOC130059147, LOC130059148, LOC130059149, LOC130059150, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC130059356, LOC130059357, LOC130059358, LOC130059359, LOC130059360, LOC130059361, LOC130059362, LOC130059363, LOC130059364, LOC130059365, LOC130059366, LOC130059367, LOC130059368, LOC130059369, LOC130059370, LOC130059371, LOC130059372, LOC130059373, LOC130059374, LOC130059375, LOC130059376, LOC130059377, LOC130059378, LOC130059379, LOC130059380, LOC130059381, LOC130059382, LOC130059383, LOC130059384, LOC130059385, LOC130059386, LOC130059387, LOC130059388, LOC130059389, LOC130059390, LOC130059391, LOC130059392, LOC130059393, LOC130059394, LOC130059395, LOC130059396, LOC130059397, LOC130059398, LOC130059399, LOC130059400, LOC130059401, LOC130059402, LOC130059403, LOC130059404, LOC130059405, LOC130059406, LOC130059407, LOC130059408, LOC130059409, LOC130059410, LOC130059411, LOC130059412, LOC130059413, LOC130059414, LOC130059415, LOC130059416, LOC130059417, LOC130059418, LOC130059419, LOC130059420, LOC130059421, LOC130059422, LOC130059423, LOC130059424, LOC130059425, LOC130059426, LOC130059427, LOC130059428, LOC130059429, LOC130059430, LOC130059431, LOC130059432, LOC130059433, LOC130059434, LOC130059435, LOC130059436, LOC130059437, LOC130059438, LOC130059439, LOC130059440, LOC130059441, LOC130059442, LOC130059443, LOC130059444, LOC130059445, LOC130059446, LOC130059447, LOC130059448, LOC130059449, LOC130059450, LOC130059451, LOC130059452, LOC130059453, LOC130059454, LOC130059455, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
2.
GRCh37:
Chr16:56917504-71313878
GRCh38:
Chr16:56883592-71279975
AARS1, ACD, ADGRG1, ADGRG3, ADGRG5, AGRP, ARL2BP, ATP6V0D1, ATP6V0D1-DT, B3GNT9, BEAN1, BEAN1-AS1, C16orf86, CA7, CARMIL2, CBFB, CCDC102A, CCDC113, CCL17, CCL22, CDH1, CDH11, CDH16, CDH3, CDH3-AS1, CDH5, CDH8, CDH8-AS1, CENPT, CES2, CES3, CES4A, CETP, CFAP20, CHTF8, CIAO2B, CIAPIN1, CKLF, CKLF-CMTM1, CLEC18A, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CNGB1, CNOT1, COG4, COG8, COQ9, CPNE2, CSNK2A2, CTCF, CTCF-DT, CTRL, CX3CL1, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DOK4, DPEP2, DPEP2NB, DPEP3, DRC7, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, FRA16B, GFOD2, GINS3, GOT2, HAS3, HERPUD1, HSD11B2, HSF4, HYDIN, IL34, KATNB1, KCTD19, KIFC3, LCAT, LINC00920, LINC00922, LINC02126, LINC02137, LINC02141, LOC100505942, LOC101927556, LOC105371296, LOC105371328, LOC110121356, LOC110121443, LOC112469004, LOC112469005, LOC112469006, LOC112469007, LOC112469008, LOC112469009, LOC112469010, LOC112469011, LOC112469012, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC121587546, LOC121587547, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121847989, LOC121847990, LOC125177322, LOC125177323, LOC125177324, LOC125177325, LOC125177326, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC126862361, LOC126862362, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822932, LOC128822933, LOC128849170, LOC129390797, LOC129390798, LOC129390799, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, LOC129390805, LOC129390806, LOC129390807, LOC129390808, LOC130059055, LOC130059056, LOC130059057, LOC130059058, LOC130059059, LOC130059060, LOC130059061, LOC130059062, LOC130059063, LOC130059064, LOC130059065, LOC130059066, LOC130059067, LOC130059068, LOC130059069, LOC130059070, LOC130059071, LOC130059072, LOC130059073, LOC130059074, LOC130059075, LOC130059076, LOC130059077, LOC130059078, LOC130059079, LOC130059080, LOC130059081, LOC130059082, LOC130059083, LOC130059084, LOC130059085, LOC130059086, LOC130059087, LOC130059088, LOC130059089, LOC130059090, LOC130059091, LOC130059092, LOC130059093, LOC130059094, LOC130059095, LOC130059096, LOC130059097, LOC130059098, LOC130059099, LOC130059100, LOC130059101, LOC130059102, LOC130059103, LOC130059104, LOC130059105, LOC130059106, LOC130059107, LOC130059108, LOC130059109, LOC130059110, LOC130059111, LOC130059112, LOC130059113, LOC130059114, LOC130059115, LOC130059116, LOC130059117, LOC130059118, LOC130059119, LOC130059120, LOC130059121, LOC130059122, LOC130059123, LOC130059124, LOC130059125, LOC130059126, LOC130059127, LOC130059128, LOC130059129, LOC130059130, LOC130059131, LOC130059132, LOC130059133, LOC130059134, LOC130059135, LOC130059136, LOC130059137, LOC130059138, LOC130059139, LOC130059140, LOC130059141, LOC130059142, LOC130059143, LOC130059144, LOC130059145, LOC130059146, LOC130059147, LOC130059148, LOC130059149, LOC130059150, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC132090384, LOC132090385, LOC132090386, LOC132090387, LOC132090388, LOC132090389, LOC132090390, LOC388282, LOC400541, LRRC29, LRRC36, MATCAP1, MIR140, MIR1538, MIR1972-2, MIR328, MIR6772, MIR6773, MIR6863, MMP15, MTSS2, NAE1, NDRG4, NFAT5, NFATC3, NIP7, NLRC5, NOB1, NOL3, NQO1, NQO1-DT, NRN1L, NUTF2, PARD6A, PDF, PDP2, PDPR, PHAF1, PLA2G15, PLEKHG4, PLLP, POLR2C, PRMT7, PRSS54, PSKH1, PSMB10, PSME3IP1, RANBP10, RIPOR1, RRAD, RSPRY1, SETD6, SF3B3, SLC12A3, SLC12A4, SLC38A7, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNORD111, SNORD111B, SNORD13H, SNTB2, SPMIP8, ST3GAL2, TANGO6, TERB1, TERF2, THAP11, TK2, TMED6, TMEM208, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRL-CAG2-1, TRL-CAG2-2, TSNAXIP1, USB1, UTP4, VAC14, VAC14-AS1, VPS4A, WWP2, ZDHHC1, ZFP90, ZNF319
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr16:58490026-74742621
GRCh38:
Chr16:58456122-74708723
LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC130059356, LOC130059357, LOC130059358, LOC130059359, LOC130059360, LOC130059361, LOC130059362, LOC130059363, LOC130059364, LOC130059365, LOC130059366, LOC130059367, LOC130059368, LOC130059369, LOC130059370, LOC130059371, LOC130059372, LOC130059373, LOC130059374, LOC130059375, LOC130059376, LOC130059377, LOC130059378, LOC130059379, LOC130059380, LOC130059381, LOC130059382, LOC130059383, LOC130059384, LOC130059385, LOC130059386, LOC130059387, LOC130059388, LOC130059389, LOC130059390, LOC132090390, LOC132090391, LOC132090392, LOC132090393, LOC132090394, LOC132090395, LOC132090396, LOC132090397, LOC132090398, LOC400541, LOHAN2, LRRC29, LRRC36, MARVELD3, MATCAP1, MIR140, MIR1538, MIR1972-2, MIR328, MIR6773, MLKL, MTSS2, NAE1, NDRG4, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUTF2, PARD6A, PCHILR, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L3, PLA2G15, PLEKHG4, PMFBP1, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RRAD, SETD6, SF3B3, SLC12A4, SLC38A7, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA46, SNORA50A, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD71, SNTB2, ST3GAL2, TANGO6, TAT, TAT-AS1, TERB1, TERF2, THAP11, TK2, TLE7, TMED6, TMEM208, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TSNAXIP1, TXNL4B, UTP4, VAC14, VAC14-AS1, VPS4A, WWP2, ZDHHC1, ZFHX3, ZFHX3-AS1, ZFP90, ZNF19, ZNF23, ZNF821, AARS1, ACD, AGRP, AP1G1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BEAN1, BEAN1-AS1, C16orf47, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH11, CDH16, CDH3, CDH3-AS1, CDH5, CDH8, CDH8-AS1, CENPT, CES2, CES3, CES4A, CHST4, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNOT1, COG4, COG8, CTCF, CTCF-DT, CTRL, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DHODH, DHX38, DPEP2, DPEP2NB, DPEP3, DUS2, DYNC1LI2, DYNC1LI2-DT, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FBXL8, FCSK, FHOD1, FRA16B, GFOD2, GLG1, GOT2, HAS3, HCCAT5, HP, HPR, HSD11B2, HSF4, HYDIN, IL34, IST1, KCTD19, LCAT, LINC00920, LINC00922, LINC01572, LINC02126, LINC02136, LINC02137, LINC02141, LOC100505942, LOC105371296, LOC105371328, LOC105371335, LOC105376772, LOC108251797, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121356, LOC110121410, LOC110121436, LOC110121443, LOC111413029, LOC112469013, LOC112469014, LOC112469015, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC121587548, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121847990, LOC125177327, LOC125177328, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC126862363, LOC126862364, LOC126862365, LOC126862366, LOC126862367, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128822932, LOC128822933, LOC128849170, LOC129390797, LOC129390798, LOC129390799, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, LOC129390805, LOC129390806, LOC129390807, LOC129390808, LOC129390809, LOC129390810, LOC130059144, LOC130059145, LOC130059146, LOC130059147, LOC130059148, LOC130059149, LOC130059150, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr16:62959833-84619401
GRCh38:
Chr16:62925929-84585795
LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC129390799, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, LOC129390805, LOC129390806, LOC129390807, LOC129390808, LOC129390809, LOC129390810, LOC129390811, LOC129390812, LOC129390813, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC130059356, LOC130059357, LOC130059358, LOC130059359, LOC130059360, LOC130059361, LOC130059362, LOC130059363, LOC130059364, LOC130059365, LOC130059366, LOC130059367, LOC130059368, LOC130059369, LOC130059370, LOC130059371, LOC130059372, LOC130059373, LOC130059374, LOC130059375, LOC130059376, LOC130059377, LOC130059378, LOC130059379, LOC130059380, LOC130059381, LOC130059382, LOC130059383, LOC130059384, LOC130059385, LOC130059386, LOC130059387, LOC130059388, LOC130059389, LOC130059390, LOC130059391, LOC130059392, LOC130059393, LOC130059394, LOC130059395, LOC130059396, LOC130059397, LOC130059398, LOC130059399, LOC130059400, LOC130059401, LOC130059402, LOC130059403, LOC130059404, LOC130059405, LOC130059406, LOC130059407, LOC130059408, LOC130059409, LOC130059410, LOC130059411, LOC130059412, LOC130059413, LOC130059414, LOC130059415, LOC130059416, LOC130059417, LOC130059418, LOC130059419, LOC130059420, LOC130059421, LOC130059422, LOC130059423, LOC130059424, LOC130059425, LOC130059426, LOC130059427, LOC130059428, LOC130059429, LOC130059430, LOC130059431, LOC130059432, LOC130059433, LOC130059434, LOC130059435, LOC130059436, LOC130059437, LOC130059438, LOC130059439, LOC130059440, LOC130059441, LOC130059442, LOC130059443, LOC130059444, LOC130059445, LOC130059446, LOC130059447, LOC130059448, LOC130059449, LOC130059450, LOC130059451, LOC130059452, LOC130059453, LOC130059454, LOC130059455, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC130059479, LOC130059480, LOC130059481, LOC130059482, LOC130059483, LOC130059484, LOC130059485, LOC130059486, LOC130059487, LOC130059488, LOC130059489, LOC130059490, LOC130059491, LOC130059492, LOC130059493, LOC130059494, LOC130059495, LOC130059496, LOC130059497, LOC130059498, LOC130059499, LOC130059500, LOC130059501, LOC130059502, LOC130059503, LOC130059504, LOC130059505, LOC130059506, LOC130059507, LOC130059508, LOC130059509, LOC130059510, LOC130059511, LOC130059512, LOC130059513, LOC130059514, LOC130059515, LOC130059516, LOC130059517, LOC130059518, LOC130059519, LOC130059520, LOC130059521, LOC130059522, LOC130059523, LOC130059524, LOC130059525, LOC130059526, LOC130059527, LOC130059528, LOC130059529, LOC130059530, LOC130059531, LOC130059532, LOC130059533, LOC130059534, LOC130059535, LOC130059536, LOC130059537, LOC130059538, LOC130059539, LOC130059540, LOC130059541, LOC130059542, LOC130059543, LOC130059544, LOC130059545, LOC130059546, LOC130059547, LOC130059548, LOC130059549, LOC130059550, LOC130059551, LOC130059552, LOC130059553, LOC130059554, LOC130059555, LOC130059556, LOC130059557, LOC130059558, LOC130059559, LOC130059560, LOC130059561, LOC130059562, LOC130059563, LOC130059564, LOC130059565, LOC130059566, LOC130059567, LOC130059568, LOC130059569, LOC130059570, LOC130059571, LOC130059572, LOC130059573, LOC130059574, LOC130059575, LOC130059576, LOC130059577, LOC132090391, LOC132090392, LOC132090393, LOC132090394, LOC132090395, LOC132090396, LOC132090397, LOC132090398, LOC132090400, LOC132090401, LOC132090402, LOC132090403, LOC132090404, LOC132090405, LOC132090406, LOC132090407, LOC132090408, LOC132090409, LOC132090410, LOC132090411, LOC132090412, LOC132090413, LOC132090414, LOC132090415, LOC132090416, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090436, LOC132090887, LOC132090888, LOC400541, LOC654780, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MARVELD3, MATCAP1, MBTPS1, MBTPS1-DT, MEAK7, MIR140, MIR1538, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR6504, MIR6773, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTSS2, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, OSGIN1, PARD6A, PCHILR, PDF, PDP2, PDPR, PHAF1, PHLPP2, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RRAD, SDR42E1, SF3B3, SLC12A4, SLC38A8, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD71, SNTB2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TSNAXIP1, TXNL4B, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZDHHC1, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZNF19, ZNF23, ZNF821, ZNRF1, AARS1, ACD, ADAD2, ADAMTS18, ADAT1, AGRP, AP1G1, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf86, CA7, CALB2, CARMIL2, CBFB, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH16, CDH3, CDH3-AS1, CDH5, CDYL2, CEDORA, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, CPHXL, CPHXL2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CYB5B, DDX19A, DDX19A-DT, DDX19B, DDX28, DERPC, DHODH, DHX38, DNAAF1, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FBXL8, FCSK, FHOD1, FRA16B, GABARAPL2, GAN, GCSH, GFOD2, GLG1, HAS3, HCCAT5, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL34, IST1, KARS1, KCNG4, KCTD19, LCAT, LDHD, LINC00920, LINC00922, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02136, LOC100129617, LOC100505942, LOC100506281, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC105369213, LOC105371328, LOC105371335, LOC105371347, LOC105376772, LOC108251797, LOC108254672, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121436, LOC110121443, LOC110121468, LOC111365156, LOC111365213, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC113939956, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC125177330, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC126862368, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416
See casesPathogenic
(Oct 20, 2010)
no assertion criteria provided
5.
GRCh37:
Chr16:64423281-90148393
GRCh38:
Chr16:64389378-90081985
ACD, ACSF3, ADAD2, CLEC3A, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNTNAP4, COG4, COG8, COTL1, COX4I1, CPHXL, CPHXL2, CPNE7, CRISPLD2, CTCF, CTCF-DT, CTRB1, CTRB2, CTRL, CTU2, CYB5B, CYBA, DBNDD1, DDX19A, DDX19A-DT, DDX19B, DDX28, DEF8, DERPC, DHODH, DHX38, DNAAF1, DPEP1, DPEP2, DPEP2NB, DPEP3, DUS2, DUXB, DYNC1LI2, DYNC1LI2-DT, DYNLRB2, DYNLRB2-AS1, E2F4, EDC4, ELMO3, EMC8, ENKD1, ESRP2, EXOC3L1, EXOSC6, FA2H, FANCA, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLJ30679, FOXC2, FOXC2-AS1, FOXF1, FOXL1, FRA16B, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GFOD2, GINS2, GLG1, GSE1, HAS3, HCCAT5, HP, HPR, HSALR1, HSBP1, HSD11B2, HSD17B2, HSD17B2-AS1, HSDL1, HSF4, HYDIN, IL17C, IL34, IRF8, IST1, JPH3, KARS1, KCNG4, KCTD19, KIAA0513, KLHDC4, KLHL36, LCAT, LDHD, LINC00304, LINC00311, LINC00917, LINC00920, LINC00922, LINC01081, LINC01082, LINC01227, LINC01228, LINC01229, LINC01572, LINC02125, LINC02126, LINC02131, LINC02135, LINC02136, LINC02138, LINC02139, LINC02166, LINC02176, LINC02181, LINC02182, LINC02188, LINC02189, LOC100129215, LOC100129617, LOC100129697, LOC100287036, LOC100505942, LOC100506281, LOC101927793, LOC101927817, LOC101927863, LOC101928230, LOC101928392, LOC101928417, LOC101928446, LOC101928557, LOC101928682, LOC101928708, LOC102724467, LOC105369213, LOC105371328, LOC105371335, LOC105371347, LOC105371401, LOC105371414, LOC105376772, LOC105943583, LOC107984862, LOC108251797, LOC108254672, LOC108281164, LOC109029536, LOC110120569, LOC110120570, LOC110120571, LOC110120572, LOC110120573, LOC110120824, LOC110121410, LOC110121411, LOC110121436, LOC110121443, LOC110121450, LOC110121468, LOC111365156, LOC111365213, LOC111413011, LOC111413029, LOC111429607, LOC111556152, LOC112469016, LOC112486201, LOC112486202, LOC112486203, LOC112486204, LOC112486205, LOC112486206, LOC112486207, LOC112486208, LOC112486209, LOC112486210, LOC112486211, LOC112486212, LOC112486213, LOC112486214, LOC112486215, LOC112486216, LOC112486217, LOC112486218, LOC112486219, LOC112486220, LOC112486221, LOC112486222, LOC112486223, LOC112486227, LOC113939956, LOC116276453, LOC121587549, LOC121587550, LOC121587551, LOC121587552, LOC121587553, LOC121587554, LOC121587555, LOC121587556, LOC121587557, LOC121587558, LOC121587559, LOC121587560, LOC121587561, LOC121587562, LOC121587563, LOC121587564, LOC121587565, LOC121587566, LOC121587567, LOC121847990, LOC121847991, LOC121847992, LOC121847993, LOC121847994, LOC121847995, LOC121847996, LOC121847997, LOC121847998, LOC121847999, LOC121848000, LOC121848001, LOC125177332, LOC125177333, LOC125177334, LOC125177336, LOC125177337, LOC125177338, LOC125177339, LOC125177340, LOC125177341, LOC125177342, LOC125177343, LOC125177344, LOC125177345, LOC125177346, LOC125177347, LOC125177348, LOC125177349, LOC125177350, LOC125177351, LOC125177352, LOC125177353, LOC125177354, LOC125177355, LOC125177356, LOC125177357, LOC125177358, LOC125177359, LOC125177360, LOC125177361, LOC125177362, LOC125177363, LOC125177365, LOC125177366, LOC125177367, LOC125177368, LOC125177380, LOC125177381, LOC125177382, LOC125177383, LOC125177384, LOC125177385, LOC125177386, LOC125177387, LOC125177388, LOC125177389, LOC125177390, LOC125177391, LOC125177392, LOC125177393, LOC125177394, LOC125177395, LOC125177396, LOC125177397, LOC126862369, LOC126862370, LOC126862371, LOC126862372, LOC126862373, LOC126862374, LOC126862375, LOC126862376, LOC126862377, LOC126862378, LOC126862379, LOC126862380, LOC126862381, LOC126862382, LOC126862383, LOC126862384, LOC126862385, LOC126862386, LOC126862387, LOC126862388, LOC126862389, LOC126862390, LOC126862391, LOC126862392, LOC126862393, LOC126862394, LOC126862395, LOC126862396, LOC126862397, LOC126862398, LOC126862399, LOC126862400, LOC126862401, LOC126862402, LOC126862403, LOC126862404, LOC126862405, LOC126862406, LOC126862407, LOC126862408, LOC126862409, LOC126862410, LOC126862411, LOC126862412, LOC126862413, LOC126862414, LOC126862415, LOC126862416, LOC126862417, LOC126862418, LOC126862419, LOC126862420, LOC126862421, LOC126862422, LOC126862423, LOC126862424, LOC126862425, LOC126862426, LOC126862427, LOC126862428, LOC126862429, LOC126862430, LOC126862431, LOC126862432, LOC126862433, LOC126862434, LOC126862435, LOC126862436, LOC126862437, LOC126862438, LOC126862439, LOC126862440, LOC126862441, LOC126862442, LOC126862443, LOC126862444, LOC126862445, LOC126862446, LOC126862447, LOC126862448, LOC126862449, LOC126862450, LOC126862451, LOC126862453, LOC128462377, LOC128772395, LOC128772396, LOC128772397, LOC128772398, LOC128772399, LOC128772400, LOC128772401, LOC128772402, LOC128772403, LOC128772404, LOC128772405, LOC128772406, LOC128772407, LOC128772408, LOC128772409, LOC128772410, LOC128772411, LOC128772412, LOC128772413, LOC128772414, LOC128772415, LOC128772416, LOC128772417, LOC128772418, LOC128772419, LOC128772420, LOC128772421, LOC128779116, LOC128822932, LOC128822933, LOC128849170, LOC128849171, LOC128849173, LOC129390800, LOC129390801, LOC129390802, LOC129390803, LOC129390804, LOC129390805, LOC129390806, LOC129390807, LOC129390808, LOC129390809, LOC129390810, LOC129390811, LOC129390812, LOC129390813, LOC129390814, LOC129390815, LOC129390816, LOC129390817, LOC130059151, LOC130059152, LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC130059356, LOC130059357, LOC130059358, LOC130059359, LOC130059360, LOC130059361, LOC130059362, LOC130059363, LOC130059364, LOC130059365, LOC130059366, LOC130059367, LOC130059368, LOC130059369, LOC130059370, LOC130059371, LOC130059372, LOC130059373, LOC130059374, LOC130059375, LOC130059376, LOC130059377, LOC130059378, LOC130059379, LOC130059380, LOC130059381, LOC130059382, LOC130059383, LOC130059384, LOC130059385, LOC130059386, LOC130059387, LOC130059388, LOC130059389, LOC130059390, LOC130059391, LOC130059392, LOC130059393, LOC130059394, LOC130059395, LOC130059396, LOC130059397, LOC130059398, LOC130059399, LOC130059400, LOC130059401, LOC130059402, LOC130059403, LOC130059404, LOC130059405, LOC130059406, LOC130059407, LOC130059408, LOC130059409, LOC130059410, LOC130059411, LOC130059412, LOC130059413, LOC130059414, LOC130059415, LOC130059416, LOC130059417, LOC130059418, LOC130059419, LOC130059420, LOC130059421, LOC130059422, LOC130059423, LOC130059424, LOC130059425, LOC130059426, LOC130059427, LOC130059428, LOC130059429, LOC130059430, LOC130059431, LOC130059432, LOC130059433, LOC130059434, LOC130059435, LOC130059436, LOC130059437, LOC130059438, LOC130059439, LOC130059440, LOC130059441, LOC130059442, LOC130059443, LOC130059444, LOC130059445, LOC130059446, LOC130059447, LOC130059448, LOC130059449, LOC130059450, LOC130059451, LOC130059452, LOC130059453, LOC130059454, LOC130059455, LOC130059456, LOC130059457, LOC130059458, LOC130059459, LOC130059460, LOC130059461, LOC130059462, LOC130059463, LOC130059464, LOC130059465, LOC130059466, LOC130059467, LOC130059468, LOC130059469, LOC130059470, LOC130059471, LOC130059472, LOC130059473, LOC130059474, LOC130059475, LOC130059476, LOC130059477, LOC130059478, LOC130059479, LOC130059480, LOC130059481, LOC130059482, LOC130059483, LOC130059484, LOC130059485, LOC130059486, LOC130059487, LOC130059488, LOC130059489, LOC130059490, LOC130059491, LOC130059492, LOC130059493, LOC130059494, LOC130059495, LOC130059496, LOC130059497, LOC130059498, LOC130059499, LOC130059500, LOC130059501, LOC130059502, LOC130059503, LOC130059504, LOC130059505, LOC130059506, LOC130059507, LOC130059508, LOC130059509, LOC130059510, LOC130059511, LOC130059512, LOC130059513, LOC130059514, LOC130059515, LOC130059516, LOC130059517, LOC130059518, LOC130059519, LOC130059520, LOC130059521, LOC130059522, LOC130059523, LOC130059524, LOC130059525, LOC130059526, LOC130059527, LOC130059528, LOC130059529, LOC130059530, LOC130059531, LOC130059532, LOC130059533, LOC130059534, LOC130059535, LOC130059536, LOC130059537, LOC130059538, LOC130059539, LOC130059540, LOC130059541, LOC130059542, LOC130059543, LOC130059544, LOC130059545, LOC130059546, LOC130059547, LOC130059548, LOC130059549, LOC130059550, LOC130059551, LOC130059552, LOC130059553, LOC130059554, LOC130059555, LOC130059556, LOC130059557, LOC130059558, LOC130059559, LOC130059560, LOC130059561, LOC130059562, LOC130059563, LOC130059564, LOC130059565, LOC130059566, LOC130059567, LOC130059568, LOC130059569, LOC130059570, LOC130059571, LOC130059572, LOC130059573, LOC130059574, LOC130059575, LOC130059576, LOC130059577, LOC130059578, LOC130059579, LOC130059580, LOC130059581, LOC130059582, LOC130059583, LOC130059584, LOC130059585, LOC130059586, LOC130059587, LOC130059588, LOC130059589, LOC130059590, LOC130059591, LOC130059592, LOC130059593, LOC130059594, LOC130059595, LOC130059596, LOC130059597, LOC130059598, LOC130059599, LOC130059600, LOC130059601, LOC130059602, LOC130059603, LOC130059604, LOC130059605, LOC130059606, LOC130059607, LOC130059608, LOC130059609, LOC130059610, LOC130059611, LOC130059612, LOC130059613, LOC130059614, LOC130059615, LOC130059616, LOC130059617, LOC130059618, LOC130059619, LOC130059620, LOC130059621, LOC130059622, LOC130059623, LOC130059624, LOC130059625, LOC130059626, LOC130059627, LOC130059628, LOC130059629, LOC130059630, LOC130059631, LOC130059632, LOC130059633, LOC130059634, LOC130059635, LOC130059636, LOC130059637, LOC130059638, LOC130059639, LOC130059640, LOC130059641, LOC130059642, LOC130059643, LOC130059644, LOC130059645, LOC130059646, LOC130059647, LOC130059648, LOC130059649, LOC130059650, LOC130059651, LOC130059652, LOC130059653, LOC130059654, LOC130059655, LOC130059656, LOC130059657, LOC130059658, LOC130059659, LOC130059660, LOC130059661, LOC130059662, LOC130059663, LOC130059664, LOC130059665, LOC130059666, LOC130059667, LOC130059668, LOC130059669, LOC130059670, LOC130059671, LOC130059672, LOC130059673, LOC130059674, LOC130059675, LOC130059676, LOC130059677, LOC130059678, LOC130059679, LOC130059680, LOC130059681, LOC130059682, LOC130059683, LOC130059684, LOC130059685, LOC130059686, LOC130059687, LOC130059688, LOC130059689, LOC130059690, LOC130059691, LOC130059692, LOC130059693, LOC130059694, LOC130059695, LOC130059696, LOC130059697, LOC130059698, LOC130059699, LOC130059700, LOC130059701, LOC130059702, LOC130059703, LOC130059704, LOC130059705, LOC130059706, LOC130059707, LOC130059708, LOC130059709, LOC130059710, LOC130059711, LOC130059712, LOC130059713, LOC130059714, LOC130059715, LOC130059716, LOC130059717, LOC130059718, LOC130059719, LOC130059720, LOC130059721, LOC130059722, LOC130059723, LOC130059724, LOC130059725, LOC130059726, LOC130059727, LOC130059728, LOC130059729, LOC130059730, LOC130059731, LOC130059732, LOC130059733, LOC130059734, LOC130059735, LOC130059736, LOC130059737, LOC130059738, LOC130059739, LOC130059740, LOC130059741, LOC130059742, LOC130059743, LOC130059744, LOC130059745, LOC130059746, LOC130059747, LOC130059748, LOC130059749, LOC130059750, LOC130059751, LOC130059752, LOC130059753, LOC130059754, LOC130059755, LOC130059756, LOC130059757, LOC130059758, LOC130059759, LOC130059760, LOC130059761, LOC130059762, LOC130059763, LOC130059764, LOC130059765, LOC130059766, LOC130059767, LOC130059768, LOC130059769, LOC130059770, LOC130059771, LOC130059772, LOC130059773, LOC130059774, LOC130059775, LOC130059776, LOC130059777, LOC130059778, LOC130059779, LOC130059780, LOC130059781, LOC130059782, LOC130059783, LOC130059784, LOC130059785, LOC130059786, LOC130059787, LOC130059788, LOC130059789, LOC130059790, LOC130059791, LOC130059792, LOC130059793, LOC130059794, LOC130059795, LOC130059796, LOC130059797, LOC130059798, LOC130059799, LOC130059800, LOC130059801, LOC130059802, LOC130059803, LOC130059804, LOC130059805, LOC130059806, LOC130059807, LOC130059808, LOC130059809, LOC130059810, LOC130059811, LOC130059812, LOC130059813, LOC130059814, LOC130059815, LOC130059816, LOC130059817, LOC130059818, LOC130059819, LOC130059820, LOC130059821, LOC130059822, LOC130059823, LOC130059824, LOC130059825, LOC130059826, LOC130059827, LOC130059828, LOC130059829, LOC130059830, LOC130059831, LOC130059832, LOC130059833, LOC130059834, LOC130059835, LOC130059836, LOC130059837, LOC130059838, LOC130059839, LOC130059840, LOC130059841, LOC130059842, LOC130059843, LOC130059844, LOC130059845, LOC130059846, LOC130059847, LOC130059848, LOC130059849, LOC130059850, LOC130059851, LOC130059852, LOC130059853, LOC130059854, LOC130059855, LOC130059856, LOC132090391, LOC132090392, LOC132090393, LOC132090394, LOC132090395, LOC132090396, LOC132090397, LOC132090398, LOC132090400, LOC132090401, LOC132090402, LOC132090403, LOC132090404, LOC132090405, LOC132090406, LOC132090407, LOC132090408, LOC132090409, LOC132090410, LOC132090411, LOC132090412, LOC132090413, LOC132090414, LOC132090415, LOC132090416, LOC132090417, LOC132090418, LOC132090419, LOC132090420, LOC132090421, LOC132090422, LOC132090423, LOC132090424, LOC132090425, LOC132090426, LOC132090427, LOC132090428, LOC132090429, LOC132090430, LOC132090431, LOC132090432, LOC132090433, LOC132090434, LOC132090435, LOC132090436, LOC132090438, LOC132090439, LOC132090440, LOC132090441, LOC132090442, LOC132090443, LOC132090444, LOC132090445, LOC132090446, LOC132090447, LOC132090448, LOC132090449, LOC132090450, LOC132090451, LOC132090452, LOC132090453, LOC132090887, LOC132090888, LOC132090889, LOC132090890, LOC132090891, LOC132211112, LOC339059, LOC400541, LOC400553, LOC654780, LOHAN2, LRRC29, LRRC36, MAF, MAFTRR, MAP1LC3B, MARVELD3, MATCAP1, MBTPS1, MBTPS1-DT, MC1R, MEAK7, MIR11401, MIR12128, MIR140, MIR1538, MIR1910, MIR1972-2, MIR3182, MIR328, MIR4719, MIR4720, MIR4722, MIR5093, MIR5189, MIR6504, MIR6773, MIR6774, MIR6775, MIR7854, MIR8058, MLKL, MLYCD, MON1B, MPHOSPH6, MTHFSD, MTSS2, MVD, NAE1, NECAB2, NFAT5, NFATC3, NIP7, NOB1, NOL3, NPIPB15, NQO1, NQO1-DT, NRN1L, NUDT7, NUTF2, OSGIN1, PABPN1L, PARD6A, PCHILR, PDF, PDP2, PDPR, PHAF1, PHLPP2, PIEZO1, PKD1L2, PKD1L3, PLA2G15, PLCG2, PLEKHG4, PMFBP1, PRDM7, PRMT7, PSKH1, PSMB10, PSMD7, PSMD7-DT, RANBP10, RFWD3, RIPOR1, RNF166, RPL13, RRAD, SDR42E1, SF3B3, SLC12A4, SLC22A31, SLC38A8, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SMPD3, SNAI3, SNAI3-AS1, SNORA119, SNORA70D, SNORD111, SNORD111B, SNORD13H, SNORD68, SNORD71, SNTB2, SPATA2L, SPATA33, SPG7, SPIRE2, ST3GAL2, SYCE1L, TAF1C, TANGO6, TAT, TAT-AS1, TCF25, TERB1, TERF2, TERF2IP, THAP11, TK2, TLE7, TMED6, TMEM170A, TMEM208, TMEM231, TPPP3, TRADD, TRAPPC2L, TRG-GCC2-4, TRG-GCC2-5, TRG-GCC3-1, TRG-GCC5-1, TRK-TTT1-1, TRM-CAT2-1, TRM-CAT6-1, TSNAXIP1, TUBB3, TXNL4B, USP10, UTP4, VAC14, VAC14-AS1, VAT1L, VPS4A, VPS9D1, VPS9D1-AS1, WDR59, WFDC1, WWOX, WWOX-AS1, WWP2, ZC3H18, ZC3H18-AS1, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFHX3-AS1, ZFP1, ZFP90, ZFPM1, ZFPM1-AS1, ZNF19, ZNF23, ZNF276, ZNF469, ZNF778, ZNF778-DT, ZNF821, ZNRF1, AARS1, ADAMTS18, ADAT1, AGRP, ANKRD11, AP1G1, APRT, ARLNC1, ATMIN, ATP2C2, ATP2C2-AS1, ATP6V0D1, ATP6V0D1-DT, ATXN1L, B3GNT9, BANP, BCAR1, BCO1, BEAN1, BEAN1-AS1, C16orf46, C16orf47, C16orf74, C16orf86, C16orf95, C16orf95-DT, CA5A, CA7, CALB2, CARMIL2, CBFA2T3, CBFB, CDH1, CDH11, CDH13, CDH13-AS1, CDH13-AS2, CDH15, CDH16, CDH3, CDH3-AS1, CDH5, CDK10, CDT1, CDYL2, CEDORA, CENPBD1, CENPN, CENPT, CES2, CES3, CES4A, CFDP1, CHMP1A, CHST4, CHST5, CHST6, CHTF8, CIAO2B, CIBAR2, CKLF, CKLF-CMTM1, CLEC18A, CLEC18B, CLEC18C
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
GRCh37:
Chr16:65347298-90148393
GRCh38:
Chr16:65313395-90081985
LOC130059153, LOC130059154, LOC130059155, LOC130059156, LOC130059157, LOC130059158, LOC130059159, LOC130059160, LOC130059161, LOC130059162, LOC130059163, LOC130059164, LOC130059165, LOC130059166, LOC130059167, LOC130059168, LOC130059169, LOC130059170, LOC130059171, LOC130059172, LOC130059173, LOC130059174, LOC130059175, LOC130059176, LOC130059177, LOC130059178, LOC130059179, LOC130059180, LOC130059181, LOC130059182, LOC130059183, LOC130059184, LOC130059185, LOC130059186, LOC130059187, LOC130059188, LOC130059189, LOC130059190, LOC130059191, LOC130059192, LOC130059193, LOC130059194, LOC130059195, LOC130059196, LOC130059197, LOC130059198, LOC130059199, LOC130059200, LOC130059201, LOC130059202, LOC130059203, LOC130059204, LOC130059205, LOC130059206, LOC130059207, LOC130059208, LOC130059209, LOC130059210, LOC130059211, LOC130059212, LOC130059213, LOC130059214, LOC130059215, LOC130059216, LOC130059217, LOC130059218, LOC130059219, LOC130059220, LOC130059221, LOC130059222, LOC130059223, LOC130059224, LOC130059225, LOC130059226, LOC130059227, LOC130059228, LOC130059229, LOC130059230, LOC130059231, LOC130059232, LOC130059233, LOC130059234, LOC130059235, LOC130059236, LOC130059237, LOC130059238, LOC130059239, LOC130059240, LOC130059241, LOC130059242, LOC130059243, LOC130059244, LOC130059245, LOC130059246, LOC130059247, LOC130059248, LOC130059249, LOC130059250, LOC130059251, LOC130059252, LOC130059253, LOC130059254, LOC130059255, LOC130059256, LOC130059257, LOC130059258, LOC130059259, LOC130059260, LOC130059261, LOC130059262, LOC130059263, LOC130059264, LOC130059265, LOC130059266, LOC130059267, LOC130059268, LOC130059269, LOC130059270, LOC130059271, LOC130059272, LOC130059273, LOC130059274, LOC130059275, LOC130059276, LOC130059277, LOC130059278, LOC130059279, LOC130059280, LOC130059281, LOC130059282, LOC130059283, LOC130059284, LOC130059285, LOC130059286, LOC130059287, LOC130059288, LOC130059289, LOC130059290, LOC130059291, LOC130059292, LOC130059293, LOC130059294, LOC130059295, LOC130059296, LOC130059297, LOC130059298, LOC130059299, LOC130059300, LOC130059301, LOC130059302, LOC130059303, LOC130059304, LOC130059305, LOC130059306, LOC130059307, LOC130059308, LOC130059309, LOC130059310, LOC130059311, LOC130059312, LOC130059313, LOC130059314, LOC130059315, LOC130059316, LOC130059317, LOC130059318, LOC130059319, LOC130059320, LOC130059321, LOC130059322, LOC130059323, LOC130059324, LOC130059325, LOC130059326, LOC130059327, LOC130059328, LOC130059329, LOC130059330, LOC130059331, LOC130059332, LOC130059333, LOC130059334, LOC130059335, LOC130059336, LOC130059337, LOC130059338, LOC130059339, LOC130059340, LOC130059341, LOC130059342, LOC130059343, LOC130059344, LOC130059345, LOC130059346, LOC130059347, LOC130059348, LOC130059349, LOC130059350, LOC130059351, LOC130059352, LOC130059353, LOC130059354, LOC130059355, LOC130059356, LOC130059357, LOC130059358, LOC130059359, LOC130059360, LOC130059361, LOC130059362, LOC130059363, LOC130059364, LOC130059365, LOC130059366, LOC130059367, LOC130059368, LOC130059369, LOC130059370, LOC130059371, LOC130059372, LOC130059373, LOC130059374, LOC130059375, LOC130059376, LOC130059377, LOC130059378, LOC130059379, LOC130059380, LOC130059381, LOC130059382, LOC130059383, LOC130059384, LOC130059385, LOC130059386, LOC130059387,