| - GRCh37:
- Chr1:59285277-86564294
- GRCh38:
- Chr1:58819605-86098611
| LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC132088736, LOC132088737, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132090664, LPAR3, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MCOLN2, MCOLN3, MGC27382, MIER1, MIGA1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4423, MIR4711, MIR4794, MIR6068, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, RPF1, SAMD13, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TM2D1, TNNI3K, TTLL7, TTLL7-IT1, TYW3, UBE2U, USP1, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3, ACADM, ADGRL2, ADGRL4, AK4, AK5, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BCL10, BCL10-AS1, C1orf141, C1orf52, C1orf87, CACHD1, CCN1, COL24A1, CRYZ, CTBS, CTH, CYP2J2, DDAH1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI3, DNAI4, DNAJB4, DNAJC6, DNASE2B, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG12-AS1, GNG5, HOOK1, HSD52, IFI44, IFI44L, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01361, LINC01362, LINC01461, LINC01555, LINC01707, LINC01712, LINC01725, LINC01739, LINC01748, LINC01758, LINC01781, LINC01788, LINC02238, LINC02567, LINC02777, LINC02791, LINC02796, LINC03102, LOC101926944, LOC101926964, LOC101927342, LOC101927434, LOC101927560, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893140, LOC120893141, LOC120893142, LOC120893143, LOC120893144, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC128772198, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129388556, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, LOC129930814, LOC129930815, LOC129930816, LOC129930817, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:76884987-89094147
- GRCh38:
- Chr1:76419302-88628464
| ADGRL2, ADGRL4, AK5, BCL10, BCL10-AS1, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, CLCA4-AS1, COL24A1, CTBS, DDAH1, DNAI3, DNAJB4, DNASE2B, FUBP1, GIPC2, GNG5, HS2ST1, IFI44, IFI44L, LINC01140, LINC01361, LINC01362, LINC01364, LINC01461, LINC01555, LINC01712, LINC01725, LINC01781, LINC02567, LINC02795, LINC02801, LMO4, LOC101927434, LOC101927560, LOC110120602, LOC110120664, LOC110120683, LOC110120776, LOC110120795, LOC110120959, LOC110120990, LOC110121010, LOC110121023, LOC110121031, LOC110121238, LOC120893142, LOC120893143, LOC120893144, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122094852, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC122094858, LOC122094859, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC126805775, LOC126805776, LOC126805777, LOC126805778, LOC126805779, LOC126805780, LOC129388553, LOC129388554, LOC129388555, LOC129388556, LOC129388557, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, LOC129930814, LOC129930815, LOC129930816, LOC129930817, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847, LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC129930882, LOC129930883, LOC129930884, LOC129930885, LOC129930886, LOC129930887, LOC129930888, LOC129930889, LOC129930890, LOC129930891, LOC129930892, LOC129930893, LOC129930894, LOC129930895, LOC129930896, LOC129930897, LOC132088736, LOC132088737, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132088743, LOC132088745, LOC132090665, LPAR3, MCOLN2, MCOLN3, MGC27382, MIGA1, MIR4423, MIR7156, MIR7856, NEXN, NEXN-AS1, ODF2L, PIGK, PKN2-AS1, PRKACB, PTGFR, RPF1, SAMD13, SELENOF, SH3GLB1, SPATA1, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TTLL7, TTLL7-IT1, USP33, ZNHIT6, ZZZ3 | | See cases | Pathogenic (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:83923008-104816539
- GRCh38:
- Chr1:83457325-104273917
| LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC126805775, LOC126805776, LOC126805777, LOC126805778, LOC126805779, LOC126805780, LOC126805781, LOC126805782, LOC126805783, LOC126805784, LOC126805785, LOC126805786, LOC126805787, LOC126805788, LOC126805789, LOC126805790, LOC126805791, LOC126805792, LOC126805793, LOC126805794, LOC126805795, LOC126805796, LOC126805797, LOC126805798, LOC126805799, LOC126805800, LOC126805801, LOC126805802, LOC126805803, LOC126805804, LOC126805805, LOC126805806, LOC126805807, LOC126805808, LOC126805809, LOC126805810, LOC126805811, LOC126805812, LOC126805813, LOC126805814, LOC128092251, LOC129388556, LOC129388557, LOC129388558, LOC129388559, LOC129388560, LOC129388561, LOC129388562, LOC129388563, LOC129388564, LOC129388565, LOC129388566, LOC129388567, LOC129388568, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847, LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC129930882, LOC129930883, LOC129930884, LOC129930885, LOC129930886, LOC129930887, LOC129930888, LOC129930889, LOC129930890, LOC129930891, LOC129930892, LOC129930893, LOC129930894, LOC129930895, LOC129930896, LOC129930897, LOC129930898, LOC129930899, LOC129930900, LOC129930901, LOC129930902, LOC129930903, LOC129930904, LOC129930905, LOC129930906, LOC129930907, LOC129930908, LOC129930909, LOC129930910, LOC129930911, LOC129930912, LOC129930913, LOC129930914, LOC129930915, LOC129930916, LOC129930917, LOC129930918, LOC129930919, LOC129930920, LOC129930921, LOC129930922, LOC129930923, LOC129930924, LOC129930925, LOC129930926, LOC129930927, LOC129930928, LOC129930929, LOC129930930, LOC129930931, LOC129930932, LOC129930933, LOC129930934, LOC129930935, LOC129930936, LOC129930937, LOC129930938, LOC129930939, LOC129930940, LOC129930941, LOC129930942, LOC129930943, LOC129930944, LOC129930945, LOC129930946, LOC129930947, LOC129930948, LOC129930949, LOC129930950, LOC129930951, LOC129930952, LOC129930953, LOC129930954, LOC129930955, LOC129930956, LOC129930957, LOC129930958, LOC129930959, LOC129930960, LOC129930961, LOC129930962, LOC129930963, LOC129930964, LOC129930965, LOC129930966, LOC129930967, LOC129930968, LOC129930969, LOC129930970, LOC129930971, LOC129930972, LOC129930973, LOC129930974, LOC129930975, LOC129930976, LOC129930977, LOC129930978, LOC129930979, LOC129930980, LOC129930981, LOC129930982, LOC129930983, LOC129930984, LOC129930985, LOC129930986, LOC129930987, LOC129930988, LOC129930989, LOC129930990, LOC129930991, LOC129930992, LOC129930993, LOC129930994, LOC129930995, LOC129930996, LOC129930997, LOC129930998, LOC129930999, LOC129931000, LOC129931001, LOC129931002, LOC129931003, LOC129931004, LOC129931005, LOC129931006, LOC129931007, LOC129931008, LOC129931009, LOC129931010, LOC129931011, LOC129931012, LOC129931013, LOC129931014, LOC129931015, LOC129931016, LOC129931017, LOC129931018, LOC129931019, LOC129931020, LOC129931021, LOC129931022, LOC129931023, LOC129931024, LOC129931025, LOC129931026, LOC129931027, LOC129931028, LOC129931029, LOC129931030, LOC129931031, LOC129931032, LOC129931033, LOC129931034, LOC129931035, LOC129931036, LOC129931037, LOC129931038, LOC129931039, LOC129931040, LOC129931041, LOC129931042, LOC129931043, LOC129931044, LOC129931045, LOC129931046, LOC129931047, LOC129931048, LOC129931049, LOC129931050, LOC129931051, LOC129931052, LOC129931053, LOC129931054, LOC129931055, LOC129931056, LOC129931057, LOC129931058, LOC129931059, LOC129931060, LOC129931061, LOC129931062, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132088743, LOC132088745, LOC132088747, LOC132090665, LPAR3, LRRC39, LRRC8B, LRRC8C, LRRC8C-DT, LRRC8D, LRRC8D-DT, MCOLN2, MCOLN3, MFSD14A, MIR12133, MIR137, MIR137HG, MIR2682, MIR378G, MIR4423, MIR553, MIR760, MIR7856, MTF2, ODF2L, OLFM3, PALMD, PKN2, PKN2-AS1, PLPPR4, PLPPR5, PLPPR5-AS1, PRKACB, PTBP2, RBMXL1, RNPC3, RNPC3-DT, RPAP2, RPF1, RPL5, RTCA, RTCA-AS1, RWDD3, RWDD3-DT, S1PR1, S1PR1-DT, SAMD13, SASS6, SELENOF, SETSIP, SH3GLB1, SLC30A7, SLC35A3, SLC44A3, SLC44A3-AS1, SNORA66, SNORD21, SNORD3G, SNX7, SPATA1, SSX2IP, SYDE2, TGFBR3, TLCD4, TLCD4-RWDD3, TMED5, TRC-GCA7-1, TRMT13, TRR-TCT1-1, TTLL7, TTLL7-IT1, VCAM1, ZNF326, ZNF644, ZNHIT6, ABCA4, ABCD3, AGL, ALG14, ALG14-AS1, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ARHGAP29, BARHL2, BCAR3, BCAR3-AS1, BCL10, BCL10-AS1, BRDT, BTBD8, C1orf146, C1orf52, CCDC18, CCDC18-AS1, CCN1, CDC14A, CDC7, CLCA1, CLCA2, CLCA4, CLCA4-AS1, CNN3, CNN3-DT, COL11A1, COL24A1, CTBS, DBT, DDAH1, DIPK1A, DNAI3, DNASE2B, DNTTIP2, DPH5, DPH5-DT, DPYD, DPYD-AS1, DPYD-AS2, DR1, EPHX4, EVI5, EXTL2, F3, FNBP1L, FRRS1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GFI1, GLMN, GNG5, GPR88, GTF2B, HFM1, HS2ST1, KYAT3, LINC01140, LINC01307, LINC01349, LINC01364, LINC01461, LINC01555, LINC01650, LINC01708, LINC01709, LINC01725, LINC01760, LINC01761, LINC01763, LINC01776, LINC01787, LINC01930, LINC02607, LINC02609, LINC02787, LINC02788, LINC02790, LINC02795, LINC02801, LMO4, LOC101927560, LOC107457601, LOC110120602, LOC110120664, LOC110120716, LOC110120739, LOC110120776, LOC110120795, LOC110120959, LOC110120990, LOC110121010, LOC110121023, LOC110121031, LOC111556158, LOC112590824, LOC112590826, LOC112590827, LOC112590828, LOC113939989, LOC115801431, LOC115801432, LOC115801433, LOC115801434, LOC115801435, LOC115801436, LOC120893144, LOC120893145, LOC120893146, LOC120893147, LOC120893148, LOC121725035, LOC121725036, LOC121725037, LOC121725038, LOC121725039, LOC121725040, LOC121725041, LOC121725042, LOC122094856, LOC122094857, LOC122094858, LOC122094859, LOC122094860, LOC122094861, LOC122094862, LOC122094863, LOC122094864, LOC122094865, LOC122094866, LOC122094867, LOC122094868, LOC122094869, LOC122094870, LOC122094871, LOC122094872, LOC122094873, LOC122094874, LOC122094875, LOC122094876, LOC122094877, LOC122094878, LOC122094879, LOC122094880, LOC122094881, LOC122094882, LOC122094883, LOC122094884, LOC122094885, LOC122094886, LOC122094887, LOC122094888, LOC122094889, LOC122094890 | | See cases | Pathogenic (Feb 18, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:84610044
- GRCh38:
- Chr1:84144361
| PRKACB | | not provided | Uncertain significance (Dec 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84610127
- GRCh38:
- Chr1:84144444
| PRKACB | R28Q | Inborn genetic diseases | Uncertain significance (Jul 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84610208
- GRCh38:
- Chr1:84144525
| PRKACB | H55R | Inborn genetic diseases | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84610214
- GRCh38:
- Chr1:84144531
| PRKACB | A57V | Inborn genetic diseases | Uncertain significance (Aug 15, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84610224
- GRCh38:
- Chr1:84144541
| PRKACB | D60E | PRKACB-related condition | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84644917
- GRCh38:
- Chr1:84179234
| PRKACB | T22I, T23I, T30I, T31I, T33I, T34I, T35I, T38I, T39I, T41I, T42I, T82I | not provided | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84647892
- GRCh38:
- Chr1:84182209
| PRKACB | G35R, G40R, G28R, G43R, G47R, G27R, G36R, G38R, G39R, G46R, G44R, G87R | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84647935
- GRCh38:
- Chr1:84182252
| PRKACB | S54L, S101L, S41L, S42L, S49L, S50L, S52L, S53L, S57L, S58L, S60L, S61L | Cardioacrofacial dysplasia 2 | Pathogenic (Dec 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:84649744
- GRCh38:
- Chr1:84184061
| PRKACB | H88N, H135N, H75N, H76N, H83N, H84N, H86N, H87N, H91N, H92N, H94N, H95N | Cardioacrofacial dysplasia 2 | Pathogenic (Dec 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:84649745
- GRCh38:
- Chr1:84184062
| PRKACB | H135L, H75L, H76L, H83L, H84L, H86L, H87L, H88L, H91L, H92L, H94L, H95L | Cardioacrofacial dysplasia 2 | Pathogenic (Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84649745
- GRCh38:
- Chr1:84184062
| PRKACB | H88R, H135R, H75R, H76R, H83R, H84R, H86R, H87R, H91R, H92R, H94R, H95R | Cardioacrofacial dysplasia 2 | Pathogenic (Dec 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:84650795
- GRCh38:
- Chr1:84185112
| PRKACB | L124V, L164V, L105V, L113V, L115V, L87V, L104V, L116V, L120V, L112V, L117V, L121V, L123V | Inborn genetic diseases | Uncertain significance (Aug 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84662378
- GRCh38:
- Chr1:84196695
| PRKACB | D137H, D154H, D155H, D162H, D163H, D165H, D166H, D167H, D170H, D171H, D173H, D174H, D214H | Cardioacrofacial dysplasia 2 | Uncertain significance (May 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84668426
- GRCh38:
- Chr1:84202743
| PRKACB | G235R, G205R, G222R, G223R, G230R, G231R, G233R, G234R, G238R, G239R, G241R, G242R, G282R | Cardioacrofacial dysplasia 2 | Pathogenic (Dec 28, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:84679986
- GRCh38:
- Chr1:84214303
| PRKACB | I293V, I304V, I309V, I353V, I294V, I301V, I302V, I312V, I313V, I276V, I306V, I305V, I310V | Inborn genetic diseases | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84700942
- GRCh38:
- Chr1:84235259
| PRKACB | R307H, R325H, R343H, R344H, R333H, R336H, R324H, R332H, R340H, R384H, R335H, R337H, R341H | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84084511-84921911
| DNASE2B, PRKACB, SAMD13, TTLL7 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68180293-92731957
| MCOLN3, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PIGK, PKN2, PRKACB, PTGER3, ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BARHL2, BCL10, BRDT, BTBD8, C1orf146, C1orf52, CCN1, CDC7, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAJB4, DNASE2B, EPHX4, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GIPC2, GLMN, GNG12, GNG5, GTF2B, HFM1, HHLA3, HS2ST1, IFI44, IFI44L, KYAT3, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, MCOLN2, PTGFR, RABGGTB, RBMXL1, RPE65, RPF1, SAMD13, SELENOF, SH3GLB1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TGFBR3, TNNI3K, TTLL7, TYW3, USP33, WLS, ZNF326, ZNF644, ZNHIT6, ZRANB2, ZRANB2-DT, ZZZ3 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:84664456-84776154
| PRKACB, SAMD13 | | not provided | Uncertain significance (Jan 20, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:80804502-89490384
| LMO4, CLCA4, SPATA1, ODF2L, LPAR3, PRKACB, DNASE2B, ADGRL2, DNAI3, TTLL7, COL24A1, ZNHIT6, CLCA1, LOC101927434, SELENOF, CCN1, SAMD13, GNG5, CTBS, RBMXL1, C1orf52, PKN2, RPF1, CLCA2, MCOLN3, MCOLN2, BCL10, KYAT3, SYDE2, DDAH1, GBP3, HS2ST1, GTF2B, SH3GLB1, SSX2IP | | not provided | Likely pathogenic (Oct 21, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:84453218-84586599
| PRKACB, TTLL7 | | not provided | Uncertain significance (Nov 3, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:67851233-86101340
| ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf52, CCN1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAJB4, DNASE2B, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, IFI44, IFI44L, IL12RB2, LHX8, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SERBP1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TNNI3K, TTLL7, TYW3, USP33, WLS, ZRANB2, ZRANB2-DT, ZZZ3 | | not provided | Pathogenic (May 23, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:66085524-88429789
| ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf141, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAI4, DNAJB4, DNASE2B, DYNLT5, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, HS2ST1, IFI44, IFI44L, IL12RB2, IL23R, INSL5, LEPR, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIER1, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PDE4B, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SELENOF, SERBP1, SGIP1, SH3GLB1, SLC35D1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TNNI3K, TTLL7, TYW3, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-DT, ZZZ3 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr1:84231099-84742725
| PRKACB, TTLL7 | | Delayed speech and language development | Likely benign (Apr 4, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:10333430-103467088
| ANGPTL7, C1orf127, C1orf141, CDKN2C, CSF3R, DNAI4, EPHA8, FOXD3, GPX7, GRHL3, GRIK3, IGSF21, IL12RB2, LAPTM5, MAD2L2, MUTYH, MYCBP, PADI2, POU3F1, PPCS, PPIE, RAP1GAP, RWDD3, SNHG3, SNIP1, SNORA73A, TAS1R2, TCEA3, TCEANC2, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, XKR8, ZRANB2-DT, ZYG11B, ZZZ3, ZSCAN20, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, YBX1, YIPF1, YRDC, YTHDF2, ZSWIM5, TRIM62, TRIM63, TRIT1, TRMT13, TRNAU1AP, TRNP1, TRQ-CTG14-1, TTC22, TTC39A, TTC4, TTLL7, TUT4, TXLNA, TEX38, TEX46, TXNDC12, TYW3, UBE2U, TSPAN1, TSSK3, ZYG11A, YARS1, ZBTB17, ZBTB40, TEKT2, TINAGL1, TLCD4, TM2D1, SNX7, SPATA1, SRSF11, SSX2IP, SPATA21, SPATA6, TENT5B, TESK2, TFAP2E, TGFBR3, THEMIS2, THRAP3, TIE1, TMCO2, S100PBP, S1PR1, SAMD13, SESN2, SF3A3, SFN, SFPQ, SGIP1, SH2D5, SH3BGRL3, SH3D21, SH3GLB1, SASS6, SCMH1, SCP2, SDC3, TMCO4, TMED5, SNORD21, SNRNP40, SRSF4, SSBP3, ST3GAL3, RAVER2, RBBP4, RHCE, RHD, RIMKLA, RIMS3, PRAMEF17, PRAMEF1, PRAMEF13, PRAMEF15, PRDM2, RLF, RBMXL1, RNF11, RNF186, RCAN3, RCC1, PADI3, PADI4, PADI6, PAFAH2, PATJ, PAX7, PEX14, PHACTR4, PHC2, PIGK, PIGV, PALMD, PAQR7, PARS2, PGD, PGM1, RCC2, RHBDL2, PPIH, PPP1R8, PPT1, PRAMEF10, PRAMEF11, MYCL, MYOM3, NCDN, NDUFS5, NECAP2, NCMAP, NDC1, MIGA1, MIIP, MANEAL, MAP3K6, MAP7D1, MCOLN3, MDS2, NEGR1, NEGR1-IT1, NEXN, MYSM1, NASP, NBL1, NBPF1, NBPF3, PRAMEF12, LDLRAD1, LDLRAD2, LDLRAP1, LEPR, LHX8, LIN28A, LINC00853, LINC01783, LMO4, LEPROT, LOC101927434, MAGOH, MAN1C1, MARCKSL1, MASP2, MAST2, MATN1, MCOLN2, MEAF6, MECR, MED18, IL22RA1, IL23R, INPP5B, INSL5, KCNQ4, KDF1, IPP, IQCC, KANK4, KAZN, ITGB3BP, IPO13, JAK1, JUN, MED8, MFAP2, LCK, GTF2B, GUCA2A, GUCA2B, HCRTR1, HDAC1, HECTD3, HEYL, HFM1, HPDL, HS2ST1, HSPB7, HSPG2, FUBP1, GBP7, GCLM, FUCA1, FYB2, FAAH, FABP3, EPHX4, EPS15, EVA1B, EVI5, FAF1, GADD45A, GBP4, GBP5, GBP6, GALE, GBP1, DNAJB4, DNAJC16, DNTTIP2, DOCK7, DPH2, DNALI1, DPH5, DPYD, DR1, DRAXIN, DYNLT4, DYNLT5, DNAJC6, DNAJC8, DNASE2B, GBP2, GBP3, EPHB2, FAM110D, FAM131C, ERI3, CSMD2, CTBS, CTH, CTPS1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CITED4, CLCA1, CLCA2, CELA3B, CENPS, CZIB, DAB1, DBT, DCDC2B, CTRC, CYP4X1, CYP4Z1, ERICH3, ERMAP, C1orf167, C1orf185, C1orf210, C1orf216, C1orf52, C1orf87, C1orf50, C1orf94, C8A, CELA2A, CELA2B, CELA3A, CENPS-CORT, CEP85, CFAP107, CFAP144, ANKRD13C, ANKRD13C-DT, ARHGAP29, ARHGEF10L, ARHGEF19, ATP13A2, AADACL3, AADACL4, ABCA4, ABCD3, ACADM, ATP5IF1, AUNIP, AZIN2, ATP6V0B, ATPAF1, CFAP57, CIMAP2, C1orf146, A3GALT2, ACOT11, ACTL8, ADGRB2, ADGRL2, ADGRL4, ADPRS, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHDC1, AIRIM, AK2, AK4, AK5, AKIRIN1, AKR1A1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALG14, ALG6, ALPL, ANGPTL3, ARID1A, ARMH1, ARTN, ASAP3, ASB17, ATG4C, B4GALT2, BARHL2, BCAR3, BCL10, BEND5, BEST4, BMP8A, BMP8B, BRDT, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, C1QA, C1QB, C1QC, C1orf122, C8B, CACHD1, CAMK2N1, CAP1, CAPZB, CASP9, CASZ1, CATSPER4, CC2D1B, CCDC17, CCDC18, CCDC24, CCDC28B, CCDC30, CCN1, CD164L2, CD52, CDA, CDC14A, CDC20, CDC42, CDC7, CDCA8, CDCP2, CLCA4, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLSPN, CMPK1, CNKSR1, CNN3, CNR2, COA7, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, CORT, CPLANE2, CPT2, CROCC, CRYBG2, CRYZ, DDAH1, DDI2, DDOST, DEPDC1, DFFA, DHCR24, DHDDS, DHRS3, DIO1, DIPK1A, DIRAS3, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAI3, E2F2, EBNA1BP2, ECE1, ECHDC2, EDN2, EFCAB14, EFCAB7, EFHD2, EIF2B3, EIF3I, EIF4G3, ELAVL4, ELOA, ELOVL1, EMC1, EPB41, EPHA10, EPHA2, EXO5, EXOSC10, EXTL1, EXTL2, EYA3, F3, FAM151A, FAM167B, FAM229A, FAM43B, FAM76A, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGGY, FGR, FHAD1, FHL3, FNBP1L, FNDC5, FOXD2, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, GFI1, GIPC2, GJA4, GJA9, GJB3, GJB4, GJB5, GLIS1, GLMN, GMEB1, GNG12, GNG5, GNL2, GPATCH3, GPBP1L1, GPN2, GPR3, GPR88, HIVEP3, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HOOK1, HP1BP3, HPCA, HPCAL4, ID3, HTR1D, HTR6, HYI, IFFO2, IFI44, IFI44L, IFI6, IFNLR1, IFT25, KDM1A, KDM4A, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KIAA2013, KIF17, KIF1B, KIF2C, KLF17, KLHDC7A, KNCN, KPNA6, KTI12, KYAT3, L1TD1, LACTBL1, LPAR3, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LSM10, LURAP1, LUZP1, LYPLA2, MACF1, MACO1, MFN2, MFSD14A, MFSD2A, MICOS10, MICOS10-NBL1, MIER1, MIR101-1, MIR137, MIR30C1, MKNK1, MMACHC, MOB3C, MPL, MROH7, MRPL37, MRPS15, MRTO4, MSH4, MTF1, MTF2, MTFR1L, MTHFR, MTOR, MUL1, NFIA, NFYC, NIPAL3, NKAIN1, NPPA, NPPB, NR0B2, NRDC, NSUN4, NT5C1A, NUDC, ODF2L, OLFM3, OMA1, OPRD1, ORC1, OSBPL9, OSCP1, OTUD3, OXCT2, P3H1, PABPC4, PABPC4-AS1, PADI1, PCSK9, PDE4B, PDIK1L, PDPN, PDZK1IP1, PEF1, PIK3R3, PINK1, PITHD1, PKN2, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHM2, PLK3, PLOD1, PLPP3, PLPPR4, PNRC2, PODN, POMGNT1, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDX1, PRKAA2, PRKACB, PRPF38A, PSMB2, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTP4A2, PTPRF, PTPRU, PUM1, RAB3B, RAB42, RABGGTB, RAD54L, RNF19B, RNF220, RNU1-4, ROR1, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL5, RPS6KA1, RPS8, RRAGC, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, SDHB, SELENOF, SELENON, SERBP1, SERINC2, SHISAL2A, SLC1A7, SLC25A34, SLC2A1, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC44A3, SLC44A5, SLC5A9, SLC66A1, SLC6A9, SLC9A1, SLFNL1, SMAP2, SMIM12, SMPDL3B, SPEN, SPOCD1, SRARP, SRM, SRRM1, SRSF10, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STMN1, STPG1, STX12, SVBP, SYDE2, SYF2, SYNC, SYTL1, SZRD1, SZT2, TACSTD2, TAF12, TAL1, TARDBP, TMEM125, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM53, TMEM54, TMEM59, TMEM61, TMEM69, TMEM82, TNFRSF1B, TNFRSF8, TNNI3K, TOE1, TRABD2B, UBIAD1, UBR4, UBXN10, UBXN11, UQCRH, UROD, USP1, USP24, USP33, USP48, UTP11, VCAM1, VPS13D, VWA5B1, WASF2, WDTC1, WLS, WNT4, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF326, ZNF362, ZNF436, ZNF593, ZNF644, ZNF683, ZNF684, ZNF691, ZNHIT6, ZRANB2 | | Intellectual disability, mild, Global developmental delay | Uncertain significance (Apr 4, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:84594399-84651715
| PRKACB | | not provided | Benign (Aug 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:84528434-84681214
| PRKACB | | not provided | Benign (Jun 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:82154-249218992
| ADSS2, SPSB1, TAF5L, TAFA3, TMEM222, TRIM63, USF1, YOD1, YRDC, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, YTHDF2, YY1AP1, ZBED6, ZCCHC17, ZDHHC18, ZFP69B, UTP25, UTS2, USP24, USP33, USP48, ZFP69, ZBTB17, ZBTB8A, USH2A, UTP11, VAMP3, TRMT13, TRMT1L, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, USP1, USP21, TRIM67, TRIT1, TSPAN1, TSPAN2, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM240, TMEM35B, TMEM39B, TMEM50A, TSSK3, TRN-GTT2-7, TRNAU1AP, TRNP1, TMEM234, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TARBP1, TMEM51, TMEM52, TMEM53, TMEM54, SSU72, SSX2IP, SRGAP2B, SRGAP2C, SRM, SRP9, SRSF10, SRSF11, SRSF4, SRARP, SRGAP2, SRRM1, SSBP3, SSR2, TAGLN2, TAL1, AGBL4, AGL, AK4, AK5, AKIRIN1, AKNAD1, AGRN, AGT, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHCTF1, AHCYL1, TBCE, TBX15, SPTA1, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, SNRNP40, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA1, SPATA17, SPATA21, SPATA45, SPATA46, SPATA6, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, STX6, STXBP3, STYXL2, SUCO, SUSD4, SV2A, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SYT11, SYT14, SYT2, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TEX35, TEX38, TEX46, TFAP2E, TFB2M, TGFB2, TGFBR3, THAP3, THBS3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TIMM17A, TINAGL1, TIPRL, TLCD4, TLR5, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TNFSF18, TNFSF4, TNN, TNNI1, TNNI3K, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRAF5, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRH-GTG2-1, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, TYW3, UAP1, UBAP2L, UBE2J2, UBE2Q1, UBE2T, UBE2U, UBE4B, UBIAD1, UBL4B, UBQLN4, UBR4, UBXN10, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, WLS, WNT2B, WNT3A, WNT4, WNT9A, WRAP73, XCL1, XCL2, XKR8, XPR1, YARS1, YBX1, YIPF1, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZNF670, ZNF672, ZNF678, ZNF683, ZNF684, ZNF687, ZNF691, ZNF692, ZNF695, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, ATXN7L2, AUNIP, AURKAIP1, AVPR1B, AXDND1, AZIN2, B3GALNT2, B3GALT2, B3GALT6, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf105, C1orf115, C1orf116, C1orf122, C1orf127, C1orf131, C1orf141, C1orf146, C1orf159, C1orf162, C1orf167, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC181, CCDC185, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CIMAP2, CIMAP3, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853, LINC01649, LINC01783, LINC02897, LINGO4, LIX1L, LMNA, LMO4, LMOD1, LMX1A, LNCATV, LOC101927434, LOC101928034, LORICRIN, LPAR3, LPGAT1, LRIF1, LRIG2, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC47, LRRC52, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LSM10, LURAP1, LUZP1, LY9, LYPD8, LYPLA2, LYPLAL1, LYSMD1, LYST, LZIC, MAB21L3, MACF1, MACO1, MAD2L2, MAEL, MAGI3, MAGOH, MAN1A2, MAN1C1, MANEAL, MAP10, MAP1LC3C, MAP3K21, MAP3K6, MAP7D1, MAPKAPK2, MARCKSL1, MARK1, MASP2, MAST2, MATN1, MCL1, MCOLN2, MCOLN3, MDM4, MDS2, MEAF6, MECR, MED18, MED8, MEF2D, MEGF6, METTL13, METTL18, METTL25B, MEX3A, MFAP2, MFN2, MFSD14A, MFSD2A, MFSD4A, MGST3, MIA3, MIB2, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MINDY1, MIR101-1, MIR137, MIR181A1, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR30C1, MIR3120, MIR34A, MIR429, MIR551A, MIR9-1, MIR9-1HG, MIXL1, MKNK1, MLLT11, MMACHC, MMEL1, MMP23B, MNDA, MOB3C, MORN1, MOV10, MPC2, MPL, MPZ, MPZL1, MR1, MROH7, MROH9, MRPL20, MRPL24, MRPL37, MRPL55, MRPL9, MRPS14, MRPS15, MRPS21, MRTO4, MSH4, MSTO1, MT1HL1, MTARC1, MTARC2, MTF1, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MUTYH, MXRA8, MYBPH, MYBPHL, MYCBP, MYCL, MYOC, MYOG, MYOM3, MYSM1, NADK, NASP, NAV1, NAXE, NBL1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF15, NBPF3, NBPF4, NBPF6, NBPF8, NBPF9, NCDN, NCF2, NCMAP, NCSTN, NDC1, NDUFS2, NDUFS5, NECAP2, NECTIN4, NEGR1, NEGR1-IT1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NHLH1, NHLH2, NHSL3, NIBAN1, NID1, NIPAL3, NIT1, NKAIN1, NLRP3, NME7, NMNAT1, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NLA, NPHP4, NPHS2, NPL, NPPA, NPPB, NPR1, NR0B2, NR1I3, NR5A2, NRAS, NRDC, NSL1, NSUN4, NT5C1A, NTMT2, NTNG1, NTPCR, NTRK1, NUAK2, NUCKS1, NUDC, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODF2L, ODR4, OLFM3, OLFML2B, OLFML3, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, 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, OR2T8, OR2W3, OR4F16, OR4F29, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSBPL9, OSCP1, OTUD3, OTUD7B, OVGP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PACC1, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARK7, PARP1, PARS2, PATJ, PAX7, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PCSK9, PDC, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1, PDZK1IP1, PEA15, PEAR1, PEF1, PER3, PEX10, PEX11B, PEX14, PEX19, PFDN2, PFKFB2, PGBD2, PGBD5, PGD, PGLYRP3, PGLYRP4, PGM1, PHACTR4, PHC2, PHF13, PHGDH, PHLDA3, PHTF1, PI4KB, PIAS3, PIGC, PIGK, PIGM, PIGR, PIGV, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PITHD1, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLEKHO1, PLK3, PLOD1, PLPP3, PLPPR4, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, PNRC2, PODN, POGK, POGZ, POLR3C, POLR3GL, POMGNT1, POU2F1, POU3F1, PPCS, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIE, PPIH, PPM1J, PPOX, PPP1R12B, PPP1R15B, PPP1R8, PPP2R5A, PPT1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRCC, PRDM16, PRDM2, PRDX1, PRDX6, PRELP, PRG4, PRKAA2, PRKAB2, PRKACB, PRKCZ, PRMT6, PROK1, PROX1, PRPF3, PRPF38A, PRPF38B, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PRXL2B, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PSRC1, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTGFRN, PTGS2, PTP4A2, PTPN14, PTPN22, PTPN7, PTPRC, PTPRF, PTPRU, PUM1, PUSL1, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3B, RAB3GAP2, RAB42, RAB4A, RABGAP1L, RABGGTB, RABIF, RAD54L, RALGPS2, RAP1A, RAP1GAP, RASAL2, RASSF5, RAVER2, RBBP4, RBBP5, RBM15, RBM34, RBM8A, RBMXL1, RBP7, RC3H1, RCAN3, RCC1, RCC2, RCOR3, RCSD1, RD3, REG4, REN, RER1, RERE, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBDL2, RHBG, RHCE, RHD, RHEX, RHOC, RHOU, RIIAD1, RIMKLA, RIMS3, RIT1, RLF, RNASEL, RNF11, RNF115, RNF186, RNF187, RNF19B, RNF2, RNF207, RNF220, RNF223, RNPC3, RNPEP, RNU1-4, RO60, ROR1, RORC, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL22, RPL5, RPRD2, RPS27, RPS6KA1, RPS6KC1, RPS8, RPTN, RRAGC, RRP15, RSBN1, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, RUSC1, RUSC1-AS1, RWDD3, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, S100PBP, S1PR1, SAMD11, SAMD13, SARS1, SASS6, SCAMP3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC16A1, SLC16A4, SLC19A2, SLC1A7, SLC22A15, SLC25A24, SLC25A33, SLC25A34, SLC25A44, SLC26A9, SLC27A3, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:47851-249228449
| SLC16A1, SLC16A4, SNRNP40, STX6, STXBP3, TEX35, TEX38, TNFRSF8, TNFRSF9, TNFSF18, TYW3, WLS, ZNF670, ZNF672, AGBL4, AGL, AGMAT, APCS, ZNF678, ZNF683, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZNF684, ZNF695, ZNF687, ZNF691, ZNF692, WNT2B, YIPF1, YOD1, XCL2, XKR8, XPR1, WNT3A, WNT4, WNT9A, UBAP2L, UBE2Q1, UBE2T, WRAP73, XCL1, UAP1, UBE2U, UBE4B, UBIAD1, UBL4B, UBE2J2, UBQLN4, UBR4, UBXN10, TNNI3K, TRE-TTC3-1, TNFSF4, TNN, TNNI1, TOR1AIP2, TOR3A, TP53BP2, YARS1, YBX1, TRAF5, TRAPPC3, TRG-CCC1-1, TRH-GTG2-1, TINAGL1, TIPRL, TLCD4, TLR5, THEMIS2, THRAP3, TIE1, TIMM17A, TGFB2, TGFBR3, THAP3, TRIM11, TRIM17, TEX46, TFAP2E, TFB2M, THBS3, THEM4, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SUCO, SUSD4, THEM5, STYXL2, SV2A, SORT1, SPATA1, SPATA17, SPATA21, SNX7, SOAT1, SOX13, SPAG17, SYT11, SYT14, SYT2, SNRPE, SNX27, SPATA45, SPATA46, SLC1A7, SLC25A24, SLC26A9, SLC22A15, SLC25A33, SPATA6, SLC19A2, SLC25A34, SLC25A44, SASS6, SCAMP3, S100A8, S100A9, S100PBP, S100A5, S100A6, S100A7, S100A7A, S1PR1, SAMD11, SAMD13, SLC27A3, S100A4, SARS1, S100A3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRARP, SRGAP2, SRGAP2B, SRGAP2C, SRM, SRP9, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSR2, SSU72, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TAF5L, TAFA3, TAGLN2, TAL1, TARBP1, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TBCE, TBX15, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM53, TMEM54, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRMT1L, TRN-GTT2-7, TRNAU1AP, TRNP1, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, TSPAN1, TSPAN2, TSSK3, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, USF1, USH2A, USP1, USP21, USP24, USP33, USP48, UTP11, UTP25, UTS2, VAMP3, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, YRDC, YTHDF2, YY1AP1, ZBED6, ZBTB17, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ATXN7L2, C1orf116, CAPN8, CDKN2C, CELA3A, CELA2B, CELA2A, CAPZA1, CAPZB, CASP9, C1orf122, C1orf162, C1orf167, C1orf159, C1orf127, C1orf131, AURKAIP1, C1orf141, C1orf146, CAPN9, CASQ1, CASQ2, CCDC181, APH1A, ARHGAP29, ARHGAP30, ARHGEF10L, APOA2, APOBEC4, AQP10, ARF1, CCDC185, AUNIP, AXDND1, AZIN2, B3GALNT2, B3GALT2, AVPR1B, AGO1, AHCYL1, AGO3, AGO4, AGRN, AGT, AGTRAP, AHCTF1, B3GALT6, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, ADSS2, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AK4, AK5, AKIRIN1, AKNAD1, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf105, C1orf115, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CIMAP2, CIMAP3, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, |