| - GRCh37:
- Chr1:24707696-41886350
- GRCh38:
- Chr1:24381206-41401517
| TXLNA, UBXN11, UTP11, WASF2, WDTC1, WDTC1-DT, XKR8, YARS1, YRDC, YTHDF2, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYM4-AS1, ZMYM6, ZNF362, ZNF593, ZNF593OS, ZNF683, ZNF684, ZPLD2P, ZSCAN20, LOC129929971, LOC129929972, LOC129929973, LOC129929974, LOC129929975, LOC129929976, LOC129929977, LOC129929978, LOC129929979, LOC129929980, LOC129929981, LOC129929982, LOC129929983, LOC129929984, LOC129929985, LOC129929986, LOC129929987, LOC129929988, LOC129929989, LOC129929990, LOC129929991, LOC129929992, LOC129929993, LOC129929994, LOC129929995, LOC129929996, LOC129929997, LOC129929998, LOC129929999, LOC129930000, LOC129930001, LOC129930002, LOC129930003, LOC129930004, LOC129930005, LOC129930006, LOC129930007, LOC129930008, LOC129930009, LOC129930010, LOC129930011, LOC129930012, LOC129930013, LOC129930014, LOC129930015, LOC129930016, LOC129930017, LOC129930018, LOC129930019, LOC129930020, LOC129930021, LOC129930022, LOC129930023, LOC129930024, LOC129930025, LOC129930026, LOC129930027, LOC129930028, LOC129930029, LOC129930030, LOC129930031, LOC129930032, LOC129930033, LOC129930034, LOC129930035, LOC129930036, LOC129930037, LOC129930038, LOC129930039, LOC129930040, LOC129930041, LOC129930042, LOC129930043, LOC129930044, LOC129930045, LOC129930046, LOC129930047, LOC129930048, LOC129930049, LOC129930050, LOC129930051, LOC129930052, LOC129930053, LOC129930054, LOC129930055, LOC129930056, LOC129930057, LOC129930058, LOC129930059, LOC129930060, LOC129930061, LOC129930062, LOC129930063, LOC129930064, LOC129930065, LOC129930066, LOC129930067, LOC129930068, LOC129930069, LOC129930070, LOC129930071, LOC129930072, LOC129930073, LOC129930074, LOC129930075, LOC129930076, LOC129930077, LOC129930078, LOC129930079, LOC129930080, LOC129930081, LOC129930082, LOC129930083, LOC129930084, LOC129930085, LOC129930086, LOC129930087, LOC129930088, LOC129930089, LOC129930090, LOC129930091, LOC129930092, LOC129930093, LOC129930094, LOC129930095, LOC129930096, LOC129930097, LOC129930098, LOC129930099, LOC129930100, LOC129930101, LOC129930102, LOC129930103, LOC129930104, LOC129930105, LOC129930106, LOC129930107, LOC129930108, LOC129930109, LOC129930110, LOC129930111, LOC129930112, LOC129930113, LOC129930114, LOC129930115, LOC129930116, LOC129930117, LOC129930118, LOC129930119, LOC129930120, LOC129930121, LOC129930122, LOC129930123, LOC129930124, LOC129930125, LOC129930126, LOC129930127, LOC129930128, LOC129930129, LOC129930130, LOC129930131, LOC129930132, LOC129930133, LOC129930134, LOC129930135, LOC129930136, LOC129930137, LOC129930138, LOC129930139, LOC129930140, LOC129930141, LOC129930142, LOC129930143, LOC129930144, LOC129930145, LOC129930146, LOC129930147, LOC129930148, LOC129930149, LOC129930150, LOC129930151, LOC129930152, LOC129930153, LOC129930154, LOC129930155, LOC129930156, LOC129930157, LOC129930158, LOC129930159, LOC129930160, LOC129930161, LOC129930162, LOC129930163, LOC129930164, LOC129930165, LOC129930166, LOC129930167, LOC129930168, LOC129930169, LOC129930170, LOC129930171, LOC129930172, LOC129930173, LOC129930174, LOC129930175, LOC129930176, LOC129930177, LOC129930178, LOC129930179, LOC129930180, LOC129930181, LOC129930182, LOC129930183, LOC129930184, LOC129930185, LOC129930186, LOC129930187, LOC129930188, LOC129930189, LOC129930190, LOC129930191, LOC129930192, LOC129930193, LOC129930194, LOC129930195, LOC129930196, LOC129930197, LOC129930198, LOC129930199, LOC129930200, LOC129930201, LOC129930202, LOC129930203, LOC129930204, LOC129930205, LOC129930206, LOC129930207, LOC129930208, LOC129930209, LOC129930210, LOC129930211, LOC129930212, LOC129930213, LOC129930214, LOC129930215, LOC129930216, LOC129930217, LOC129930218, LOC129930219, LOC129930220, LOC129930221, LOC129930222, LOC129930223, LOC129930224, LOC129930225, LOC129930226, LOC129930227, LOC129930228, LOC129930229, LOC129930230, LOC129930231, LOC129930232, LOC129930233, LOC129930234, LOC129930235, LOC129930236, LOC129930237, LOC129930238, LOC129930239, LOC129930240, LOC129930241, LOC129930242, LOC129930243, LOC129930244, LOC129930245, LOC129930246, LOC129930247, LOC129930248, LOC129930249, LOC129930250, LOC129930251, LOC129930252, LOC129930253, LOC129930254, LOC129930255, LOC129930256, LOC129930257, LOC129930258, LOC129930259, LOC129930260, LOC129930261, LOC129930262, LOC129930263, LOC129930264, LOC129930265, LOC129930266, LOC129930267, LOC129930268, LOC129930269, LOC129930270, LOC129930271, LOC129930272, LOC129930273, LOC129930274, LOC129930275, LOC129930276, LOC129930277, LOC129930278, LOC129930279, LOC129930280, LOC129930281, LOC129930282, LOC129930283, LOC129930284, LOC129930285, LOC129930286, LOC129930287, LOC129930288, LOC129930289, LOC129930290, LOC129930291, LOC129930292, LOC129930293, LOC129930294, LOC129930295, LOC129930296, LOC129930297, LOC129930298, LOC129930299, LOC129930300, LOC129930301, LOC129930302, LOC129930303, LOC130932201, LOC132088691, LOC132088692, LOC132088693, LOC132088695, LOC132088696, LOC132088697, LOC132088698, LOC132088699, LOC132088700, LOC132088701, LOC132088702, LOC132088703, LOC132088706, LOC132088710, LOC132088711, LOC132088712, LOC132088713, LOC132088714, LOC132088715, LOC132088716, LOC132088717, LOC132088718, LOC132088719, LOC132090660, LOC132090661, LOC132090662, LOC132090663, LOC400748, LOC646471, LSM10, MACF1, MACO1, MAN1C1, MANEAL, MAP3K6, MAP7D1, MARCKSL1, MATN1, MATN1-AS1, MEAF6, MECR, MED18, MFSD2A, MIR1976, MIR30C1, MIR30E, MIR3605, MIR3659, MIR3659HG, MIR3917, MIR4254, MIR4255, MIR4420, MIR4425, MIR552, MIR5581, MIR5585, MIR6731, MIR6732, MRPS15, MTF1, MTFR1L, MYCBP, MYCL, MYCL-AS1, NCDN, NCMAP, NCMAP-DT, NDUFS5, NFYC, NFYC-AS1, NHSL3, NIPAL3, NKAIN1, NR0B2, NT5C1A, NUDC, OPRD1, OSCP1, OXCT2, PABPC4, PABPC4-AS1, PAFAH2, PAQR7, PDIK1L, PEF1, PEF1-AS1, PHACTR4, PHC2, PHC2-AS1, PIGV, POU3F1, PPIE, PPP1R8, PPT1, PSMB2, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RBBP4, RCAN3, RCAN3AS, RCC1, RHBDL2, RHCE, RHD, RIMS3, RLF, RNF19B, RNU11, RPA2, RPS6KA1, RRAGC, RRAGC-DT, RSPO1, RSRP1, RUNX3, RUNX3-AS1, S100PBP, SCARNA1, SCMH1, SCMH1-DT, SDC3, SELENON, SERINC2, SESN2, SF3A3, SFN, SFPQ, SH3BGRL3, SH3D21, SLC30A2, SLC9A1, SLFNL1, SLFNL1-AS1, SMAP2, SMIM12, SMPDL3B, SNHG12, SNHG3, SNIP1, SNORA16A, SNORA44, SNORA55, SNORA61, SNORA63C, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRRM1, SRSF4, STK40, STMN1, STPG1, STX12, SYF2, SYNC, SYTL1, TAF12, TAF12-DT, TEKT2, TENT5B, TFAP2E, TFAP2E-AS1, THEMIS2, THRAP3, TINAGL1, TMCO2, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM54, TRAPPC3, TRIM62, TRIM63, TRIT1, TRNAU1AP, TRNP1, TSSK3, GJA4, GJA9, GJA9-MYCBP, GJB3, GJB4, GJB5, GMEB1, GNL2, GPATCH3, GPN2, GPR199P, GPR3, GRIK3, HCRTR1, HDAC1, HEYL, HMGB4, HMGN2, HPCA, HPCAL4, IFI6, INPP5B, IQCC, KCNQ4, KDF1, KHDRBS1, KIAA0319L, KIAA0754, KPNA6, LAPTM5, LCK, LDLRAP1, LIN28A, LINC01226, LINC01343, LINC01648, LINC01685, LINC01756, LINC01778, LINC02574, LINC02811, LITATS1, LOC101928728, LOC101929536, LOC105376892, LOC105378626, LOC107988049, LOC108254669, LOC109851610, LOC110120621, LOC110120729, LOC110120958, LOC110120969, LOC110121002, LOC110121088, LOC110121139, LOC110121256, LOC110121289, LOC110594336, LOC111464991, LOC111501765, LOC111828505, LOC112577564, LOC112577570, LOC112577571, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC112577584, LOC112577585, LOC112577586, LOC112577587, LOC112577588, LOC112577589, LOC112577590, LOC112577591, LOC112577594, LOC112577595, LOC112577596, LOC112577597, LOC112577598, LOC112577599, LOC112590790, LOC113939988, LOC114803468, LOC115801417, LOC115801418, LOC115801419, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC115801424, LOC115801425, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC120893128, LOC120893129, LOC120893130, LOC120893131, LOC120893132, LOC121725005, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC121725010, LOC121725011, LOC121725012, LOC121725013, LOC121725014, LOC121725016, LOC121725017, LOC122056797, LOC122056798, LOC122056799, LOC122056800, LOC122056801, LOC122056802, LOC122056803, LOC122056804, LOC122056805, LOC122056806, LOC122056807, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC122056830, LOC122056831, LOC122056832, LOC122056833, LOC122056834, LOC122056835, LOC122056836, LOC122056837, LOC122056838, LOC122056839, LOC122056840, LOC122056841, LOC122056842, LOC122056843, LOC122056844, LOC122056845, LOC122056846, LOC122056847, LOC126805662, LOC126805663, LOC126805664, LOC126805665, LOC126805666, LOC126805667, LOC126805668, LOC126805669, LOC126805670, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC126805688, LOC126805689, LOC126805690, LOC126805691, LOC126805692, LOC126805693, LOC126805694, LOC126805695, LOC126805696, LOC126805697, LOC126805698, LOC126805699, LOC126805700, LOC126805701, LOC126805702, LOC126805703, LOC126805704, LOC126805705, LOC126805706, LOC126805707, LOC126805708, LOC126805709, LOC126805710, LOC126805711, LOC126805712, LOC126805713, LOC126805714, LOC126805715, LOC126805716, LOC126805717, LOC128031832, LOC129388467, LOC129388468, LOC129388469, LOC129388470, LOC129388471, LOC129388472, LOC129388473, LOC129388474, LOC129388475, LOC129388476, LOC129388477, LOC129388478, LOC129388479, LOC129388480, LOC129388481, LOC129388482, LOC129388483, LOC129388484, LOC129388485, LOC129388486, LOC129388487, LOC129388488, LOC129388489, LOC129388490, LOC129388491, LOC129388492, LOC129388493, LOC129388494, LOC129388495, LOC129388496, LOC129388497, LOC129388498, LOC129388499, LOC129388500, LOC129388501, LOC129388502, LOC129929707, LOC129929708, LOC129929709, LOC129929710, LOC129929711, LOC129929712, LOC129929713, LOC129929714, LOC129929715, LOC129929716, LOC129929717, LOC129929718, LOC129929719, LOC129929720, LOC129929721, LOC129929722, LOC129929723, LOC129929724, LOC129929725, LOC129929726, LOC129929727, LOC129929728, LOC129929729, LOC129929730, LOC129929731, LOC129929732, LOC129929733, LOC129929734, LOC129929735, LOC129929736, LOC129929737, LOC129929738, LOC129929739, LOC129929740, LOC129929741, LOC129929742, LOC129929743, LOC129929744, LOC129929745, LOC129929746, LOC129929747, LOC129929748, LOC129929749, LOC129929750, LOC129929751, LOC129929752, LOC129929753, LOC129929754, LOC129929755, LOC129929756, LOC129929757, LOC129929758, LOC129929759, LOC129929760, LOC129929761, LOC129929762, LOC129929763, LOC129929764, LOC129929765, LOC129929766, LOC129929767, LOC129929768, LOC129929769, LOC129929770, LOC129929771, LOC129929772, LOC129929773, LOC129929774, LOC129929775, LOC129929776, LOC129929777, LOC129929778, LOC129929779, LOC129929780, LOC129929781, LOC129929782, LOC129929783, LOC129929784, LOC129929785, LOC129929786, LOC129929787, LOC129929788, LOC129929789, LOC129929790, LOC129929791, LOC129929792, LOC129929793, LOC129929794, LOC129929795, LOC129929796, LOC129929797, LOC129929798, LOC129929799, LOC129929800, LOC129929801, LOC129929802, LOC129929803, LOC129929804, LOC129929805, LOC129929806, LOC129929807, LOC129929808, LOC129929809, LOC129929810, LOC129929811, LOC129929812, LOC129929813, LOC129929814, LOC129929815, LOC129929816, LOC129929817, LOC129929818, LOC129929819, LOC129929820, LOC129929821, LOC129929822, LOC129929823, LOC129929824, LOC129929825, LOC129929826, LOC129929827, LOC129929828, LOC129929829, LOC129929830, LOC129929831, LOC129929832, LOC129929833, LOC129929834, LOC129929835, LOC129929836, LOC129929837, LOC129929838, LOC129929839, LOC129929840, LOC129929841, LOC129929842, LOC129929843, LOC129929844, LOC129929845, LOC129929846, LOC129929847, LOC129929848, LOC129929849, LOC129929850, LOC129929851, LOC129929852, LOC129929853, LOC129929854, LOC129929855, LOC129929856, LOC129929857, LOC129929858, LOC129929859, LOC129929860, LOC129929861, LOC129929862, LOC129929863, LOC129929864, LOC129929865, LOC129929866, LOC129929867, LOC129929868, LOC129929869, LOC129929870, LOC129929871, LOC129929872, LOC129929873, LOC129929874, LOC129929875, LOC129929876, LOC129929877, LOC129929878, LOC129929879, LOC129929880, LOC129929881, LOC129929882, LOC129929883, LOC129929884, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890, LOC129929891, LOC129929892, LOC129929893, LOC129929894, LOC129929895, LOC129929896, LOC129929897, LOC129929898, LOC129929899, LOC129929900, LOC129929901, LOC129929902, LOC129929903, LOC129929904, LOC129929905, LOC129929906, LOC129929907, LOC129929908, LOC129929909, LOC129929910, LOC129929911, LOC129929912, LOC129929913, LOC129929914, LOC129929915, LOC129929916, LOC129929917, LOC129929918, LOC129929919, LOC129929920, LOC129929921, LOC129929922, LOC129929923, LOC129929924, LOC129929925, LOC129929926, LOC129929927, LOC129929928, LOC129929929, LOC129929930, LOC129929931, LOC129929932, LOC129929933, LOC129929934, LOC129929935, LOC129929936, LOC129929937, LOC129929938, LOC129929939, LOC129929940, LOC129929941, LOC129929942, LOC129929943, LOC129929944, LOC129929945, LOC129929946, LOC129929947, LOC129929948, LOC129929949, LOC129929950, LOC129929951, LOC129929952, LOC129929953, LOC129929954, LOC129929955, LOC129929956, LOC129929957, LOC129929958, LOC129929959, LOC129929960, LOC129929961, LOC129929962, LOC129929963, LOC129929964, LOC129929965, LOC129929966, LOC129929967, LOC129929968, LOC129929969, LOC129929970, A3GALT2, ADGRB2, ADPRS, AGO1, AGO3, AGO4, AHDC1, AIRIM, AK2, AKIRIN1, ARID1A, ATP5IF1, AUNIP, AZIN2, BMP8A, BMP8B, BSDC1, C1orf122, C1orf216, C1orf232, C1orf94, CAP1, CATSPER4, CCDC28B, CD164L2, CD52, CDCA8, CEP85, CITED4, CLIC4, CLSPN, CNKSR1, COL16A1, COL8A2, COL9A2, CRYBG2, CSF3R, CSMD2, CSMD2-AS1, CTPS1, DCDC2B, DHDDS, DHDDS-AS1, DLGAP3, DNAJC8, DNALI1, EIF3I, EPB41, EPHA10, EVA1B, EXO5, EXO5-DT, EXTL1, EYA3, FABP3, FAM110D, FAM167B, FAM229A, FAM76A, FCN3, FGR, FHL3, FNDC5, FOXO6, FOXO6-AS1 | | See cases | Pathogenic (Jun 1, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:27133503-28011702
- GRCh38:
- Chr1:26807012-27685191
| AHDC1, CD164L2, FCN3, FGR, GPATCH3, GPN2, GPR3, IFI6, KDF1, LINC02574, LOC105376892, LOC112577572, LOC112577573, LOC112577574, LOC120766157, LOC120893124, LOC121725006, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC129929844, LOC129929845, LOC129929846, LOC129929847, LOC129929848, LOC129929849, LOC129929850, LOC129929851, LOC129929852, LOC129929853, LOC129929854, LOC129929855, LOC129929856, LOC129929857, LOC129929858, LOC129929859, LOC129929860, LOC129929861, LOC129929862, LOC129929863, LOC129929864, LOC129929865, LOC129929866, LOC129929867, LOC129929868, LOC129929869, LOC129929870, LOC129929871, LOC129929872, LOC129929873, LOC129929874, LOC129929875, LOC129929876, LOC129929877, LOC129929878, LOC129929879, LOC129929880, LOC129929881, LOC129929882, LOC129929883, LOC129929884, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890, LOC129929891, LOC129929892, LOC129929893, LOC129929894, LOC129929895, LOC129929896, LOC129929897, LOC129929898, LOC129929899, LOC129929900, LOC129929901, LOC129929902, LOC129929903, MAP3K6, NR0B2, NUDC, SFN, SLC9A1, SYTL1, TENT5B, TMEM222, TRNP1, WASF2, WDTC1, WDTC1-DT, ZDHHC18 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27181127-27972340
- GRCh38:
- Chr1:26854636-27645829
| AHDC1, CD164L2, FCN3, FGR, GPATCH3, GPN2, GPR3, KDF1, LOC105376892, LOC112577572, LOC112577573, LOC112577574, LOC120766157, LOC120893124, LOC122056808, LOC122056809, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC126805671, LOC126805672, LOC126805673, LOC126805674, LOC129929848, LOC129929849, LOC129929850, LOC129929851, LOC129929852, LOC129929853, LOC129929854, LOC129929855, LOC129929856, LOC129929857, LOC129929858, LOC129929859, LOC129929860, LOC129929861, LOC129929862, LOC129929863, LOC129929864, LOC129929865, LOC129929866, LOC129929867, LOC129929868, LOC129929869, LOC129929870, LOC129929871, LOC129929872, LOC129929873, LOC129929874, LOC129929875, LOC129929876, LOC129929877, LOC129929878, LOC129929879, LOC129929880, LOC129929881, LOC129929882, LOC129929883, LOC129929884, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890, LOC129929891, LOC129929892, LOC129929893, LOC129929894, LOC129929895, LOC129929896, LOC129929897, LOC129929898, LOC129929899, LOC129929900, MAP3K6, NR0B2, NUDC, SFN, SLC9A1, SYTL1, TENT5B, TMEM222, TRNP1, WASF2, WDTC1, WDTC1-DT, ZDHHC18 | | See cases | Uncertain significance (Aug 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:27289536-32744646
- GRCh38:
- Chr1:26963045-32279045
| ADGRB2, AHDC1, ATP5IF1, CCDC28B, CD164L2, COL16A1, DCDC2B, DNAJC8, EIF3I, EPB41, EYA3, FABP3, FAM167B, FAM76A, FCN3, FGR, GMEB1, GPR3, HCRTR1, IFI6, IQCC, KHDRBS1, KPNA6, LAPTM5, LCK, LINC01226, LINC01648, LINC01756, LINC01778, LINC02574, LOC105376892, LOC105378626, LOC108254669, LOC110120729, LOC110594336, LOC111501765, LOC112577572, LOC112577573, LOC112577574, LOC112577575, LOC112577576, LOC112577577, LOC112577582, LOC112577583, LOC113939988, LOC115801420, LOC115801421, LOC115801422, LOC115801423, LOC120766157, LOC120893124, LOC120893125, LOC120893126, LOC120893127, LOC121725006, LOC121725007, LOC121725008, LOC121725009, LOC122056810, LOC122056811, LOC122056812, LOC122056813, LOC122056814, LOC122056815, LOC122056816, LOC122056817, LOC122056818, LOC122056819, LOC122056820, LOC122056821, LOC122056822, LOC122056823, LOC122056824, LOC122056825, LOC122056826, LOC122056827, LOC122056828, LOC122056829, LOC126805672, LOC126805673, LOC126805674, LOC126805675, LOC126805676, LOC126805677, LOC126805678, LOC126805679, LOC126805680, LOC126805681, LOC126805682, LOC126805683, LOC126805684, LOC126805685, LOC126805686, LOC126805687, LOC128031832, LOC129388479, LOC129388480, LOC129388481, LOC129388482, LOC129388483, LOC129388484, LOC129388485, LOC129388486, LOC129388487, LOC129388488, LOC129929856, LOC129929857, LOC129929858, LOC129929859, LOC129929860, LOC129929861, LOC129929862, LOC129929863, LOC129929864, LOC129929865, LOC129929866, LOC129929867, LOC129929868, LOC129929869, LOC129929870, LOC129929871, LOC129929872, LOC129929873, LOC129929874, LOC129929875, LOC129929876, LOC129929877, LOC129929878, LOC129929879, LOC129929880, LOC129929881, LOC129929882, LOC129929883, LOC129929884, LOC129929885, LOC129929886, LOC129929887, LOC129929888, LOC129929889, LOC129929890, LOC129929891, LOC129929892, LOC129929893, LOC129929894, LOC129929895, LOC129929896, LOC129929897, LOC129929898, LOC129929899, LOC129929900, LOC129929901, LOC129929902, LOC129929903, LOC129929904, LOC129929905, LOC129929906, LOC129929907, LOC129929908, LOC129929909, LOC129929910, LOC129929911, LOC129929912, LOC129929913, LOC129929914, LOC129929915, LOC129929916, LOC129929917, LOC129929918, LOC129929919, LOC129929920, LOC129929921, LOC129929922, LOC129929923, LOC129929924, LOC129929925, LOC129929926, LOC129929927, LOC129929928, LOC129929929, LOC129929930, LOC129929931, LOC129929932, LOC129929933, LOC129929934, LOC129929935, LOC129929936, LOC129929937, LOC129929938, LOC129929939, LOC129929940, LOC129929941, LOC129929942, LOC129929943, LOC129929944, LOC129929945, LOC129929946, LOC129929947, LOC129929948, LOC129929949, LOC129929950, LOC129929951, LOC129929952, LOC129929953, LOC129929954, LOC129929955, LOC129929956, LOC129929957, LOC129929958, LOC129929959, LOC129929960, LOC129929961, LOC129929962, LOC129929963, LOC129929964, LOC129929965, LOC129929966, LOC129929967, LOC129929968, LOC129929969, LOC129929970, LOC129929971, LOC129929972, LOC129929973, LOC129929974, LOC129929975, LOC129929976, LOC129929977, LOC129929978, LOC129929979, LOC129929980, LOC129929981, LOC129929982, LOC129929983, LOC129929984, LOC129929985, LOC129929986, LOC129929987, LOC129929988, LOC129929989, LOC129929990, LOC129929991, LOC129929992, LOC129929993, LOC129929994, LOC129929995, LOC129929996, LOC129929997, LOC129929998, LOC129929999, LOC129930000, LOC129930001, LOC129930002, LOC129930003, LOC129930004, LOC129930005, LOC129930006, LOC129930007, LOC129930008, LOC129930009, LOC129930010, LOC129930011, LOC129930012, LOC129930013, LOC129930014, LOC129930015, LOC129930016, LOC129930017, LOC129930018, LOC129930019, LOC129930020, LOC129930021, LOC129930022, LOC129930023, LOC129930024, LOC129930025, LOC129930026, LOC129930027, LOC129930028, LOC129930029, LOC129930030, LOC129930031, LOC129930032, LOC129930033, LOC129930034, LOC132088691, LOC132088692, LOC132088693, LOC400748, MAP3K6, MATN1, MATN1-AS1, MECR, MED18, MIR4254, MIR4420, MIR5585, NKAIN1, OPRD1, PEF1, PEF1-AS1, PHACTR4, PPP1R8, PTAFR, PTP4A2, PTPRU, PUM1, RAB42, RCC1, RNU11, RPA2, SCARNA1, SDC3, SERINC2, SESN2, SLC9A1, SMPDL3B, SNHG12, SNHG3, SNORA16A, SNORA44, SNORA61, SNORA73A, SNORA73B, SNORD103A, SNORD103B, SNORD103C, SNORD99, SNRNP40, SPOCD1, SRSF4, STX12, SYTL1, TAF12, TAF12-DT, TENT5B, THEMIS2, TINAGL1, TMEM200B, TMEM222, TMEM234, TMEM39B, TRNAU1AP, TRNP1, TXLNA, WASF2, WDTC1, WDTC1-DT, XKR8, YTHDF2, ZCCHC17 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426796
- GRCh38:
- Chr1:27100305
| SLC9A1 | | Lichtenstein-Knorr syndrome | Benign (Jul 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426847
- GRCh38:
- Chr1:27100356
| SLC9A1 | P800L | not provided | Uncertain significance (Jan 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426849
- GRCh38:
- Chr1:27100358
| SLC9A1 | | not provided | Likely benign (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426853
- GRCh38:
- Chr1:27100362
| SLC9A1 | P798L | not provided | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426853
- GRCh38:
- Chr1:27100362
| SLC9A1 | P798R | not provided | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426875
- GRCh38:
- Chr1:27100384
| SLC9A1 | I791V | Inborn genetic diseases, not provided | Uncertain significance (Aug 4, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27426889
- GRCh38:
- Chr1:27100398
| SLC9A1 | P786L | not provided | Uncertain significance (Aug 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426894
- GRCh38:
- Chr1:27100403
| SLC9A1 | D784E | not provided | Uncertain significance (Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426927
- GRCh38:
- Chr1:27100436
| SLC9A1 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426953
- GRCh38:
- Chr1:27100462
| SLC9A1 | R765W | not provided | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426971
- GRCh38:
- Chr1:27100480
| SLC9A1 | D759N | Inborn genetic diseases | Uncertain significance (Mar 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426972
- GRCh38:
- Chr1:27100481
| SLC9A1 | | not provided | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426974
- GRCh38:
- Chr1:27100483
| SLC9A1 | D758N | Inborn genetic diseases | Uncertain significance (Dec 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426975
- GRCh38:
- Chr1:27100484
| SLC9A1 | | not provided | Likely benign (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426980
- GRCh38:
- Chr1:27100489
| SLC9A1 | E756K | not provided | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27426987
- GRCh38:
- Chr1:27100496
| SLC9A1 | | not provided | Benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427009
- GRCh38:
- Chr1:27100518
| SLC9A1 | R746Q | Inborn genetic diseases | Uncertain significance (Feb 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427010
- GRCh38:
- Chr1:27100519
| SLC9A1 | R746W | Inborn genetic diseases | Uncertain significance (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427019
- GRCh38:
- Chr1:27100528
| SLC9A1 | G743R | not provided | Uncertain significance (Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427038
- GRCh38:
- Chr1:27100547
| SLC9A1 | E736D | Inborn genetic diseases | Uncertain significance (Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427041
- GRCh38:
- Chr1:27100550
| SLC9A1 | | not provided, Lichtenstein-Knorr syndrome | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27427065
- GRCh38:
- Chr1:27100574
| SLC9A1 | | not provided | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427084
- GRCh38:
- Chr1:27100593
| SLC9A1 | P721L | not provided | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427087
- GRCh38:
- Chr1:27100596
| SLC9A1 | D720G | not provided | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427110
- GRCh38:
- Chr1:27100619
| SLC9A1 | | not provided | Likely benign (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427117
- GRCh38:
- Chr1:27100626
| SLC9A1 | P710L | not provided | Uncertain significance (Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27427677
- GRCh38:
- Chr1:27101186
| SLC9A1 | | not provided | Likely benign (Sep 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427681
- GRCh38:
- Chr1:27101190
| SLC9A1 | | not provided | Likely benign (Aug 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427701
- GRCh38:
- Chr1:27101210
| SLC9A1 | | not provided | Likely benign (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427703
- GRCh38:
- Chr1:27101212
| SLC9A1 | I701V | Inborn genetic diseases | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427712
- GRCh38:
- Chr1:27101221
| SLC9A1 | | not provided | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427718
- GRCh38:
- Chr1:27101227
| SLC9A1 | M696V | not provided | Benign (Sep 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427733-27427734
- GRCh38:
- Chr1:27101242-27101243
| SLC9A1 | K690N | not provided | Uncertain significance (Feb 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427784
- GRCh38:
- Chr1:27101293
| SLC9A1 | | not provided | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27427786
- GRCh38:
- Chr1:27101295
| SLC9A1 | | not provided | Likely benign (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428197
- GRCh38:
- Chr1:27101706
| SLC9A1 | | not provided | Benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428222
- GRCh38:
- Chr1:27101731
| SLC9A1 | | Lichtenstein-Knorr syndrome, not provided | Conflicting interpretations of pathogenicity (Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:27428233
- GRCh38:
- Chr1:27101742
| SLC9A1 | R674W | Inborn genetic diseases | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428276
- GRCh38:
- Chr1:27101785
| SLC9A1 | | not provided | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428285
- GRCh38:
- Chr1:27101794
| SLC9A1 | | not provided | Likely benign (Sep 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428286
- GRCh38:
- Chr1:27101795
| SLC9A1 | A656G | Inborn genetic diseases | Uncertain significance (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428314
- GRCh38:
- Chr1:27101823
| SLC9A1 | R647W | not provided | Uncertain significance (Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428321-27428322
- GRCh38:
- Chr1:27101830-27101831
| SLC9A1 | | not provided | Uncertain significance (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428321
- GRCh38:
- Chr1:27101830
| SLC9A1 | | not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27428333
- GRCh38:
- Chr1:27101842
| SLC9A1 | | not provided | Benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428334
- GRCh38:
- Chr1:27101843
| SLC9A1 | | not provided | Likely benign (Jul 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428496
- GRCh38:
- Chr1:27102005
| SLC9A1 | | not provided | Likely benign (Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428531
- GRCh38:
- Chr1:27102040
| SLC9A1 | N637K | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428547
- GRCh38:
- Chr1:27102056
| SLC9A1 | R632H | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428548
- GRCh38:
- Chr1:27102057
| SLC9A1 | R632C | not provided | Uncertain significance (Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428552
- GRCh38:
- Chr1:27102061
| SLC9A1 | E630D | not provided | Uncertain significance (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428593
- GRCh38:
- Chr1:27102102
| SLC9A1 | E617K | Inborn genetic diseases | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428594
- GRCh38:
- Chr1:27102103
| SLC9A1 | | not provided | Likely benign (Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428612
- GRCh38:
- Chr1:27102121
| SLC9A1 | H610Q | not provided | Uncertain significance (Apr 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428621
- GRCh38:
- Chr1:27102130
| SLC9A1 | | Lichtenstein-Knorr syndrome, not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27428626
- GRCh38:
- Chr1:27102135
| SLC9A1 | | not provided | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428887-27428889
- GRCh38:
- Chr1:27102396-27102398
| SLC9A1 | T603del | not provided | Benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428919
- GRCh38:
- Chr1:27102428
| SLC9A1 | G593C | not provided | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428923
- GRCh38:
- Chr1:27102432
| SLC9A1 | | not provided | Benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27428938
- GRCh38:
- Chr1:27102447
| SLC9A1 | | not provided | Likely benign (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429001
- GRCh38:
- Chr1:27102510
| SLC9A1 | | not provided | Conflicting interpretations of pathogenicity (Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:27429055-27429056
- GRCh38:
- Chr1:27102564-27102565
| SLC9A1 | | not provided | Benign (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429056-27429058
- GRCh38:
- Chr1:27102565-27102567
| SLC9A1 | | not provided | Likely benign (May 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429151
- GRCh38:
- Chr1:27102660
| SLC9A1 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429178
- GRCh38:
- Chr1:27102687
| SLC9A1 | | not provided | Likely benign (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429225
- GRCh38:
- Chr1:27102734
| SLC9A1 | H529Y | not provided, Inborn genetic diseases | Uncertain significance (Aug 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27429241
- GRCh38:
- Chr1:27102750
| SLC9A1 | | not provided | Likely benign (Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429733
- GRCh38:
- Chr1:27103242
| SLC9A1 | N519S | not provided | Uncertain significance (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429747
- GRCh38:
- Chr1:27103256
| SLC9A1 | | not provided | Likely benign (Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429767
- GRCh38:
- Chr1:27103276
| SLC9A1 | V508L | not provided | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429805-27429806
- GRCh38:
- Chr1:27103314-27103315
| SLC9A1 | | not provided | Likely benign (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27429807
- GRCh38:
- Chr1:27103316
| SLC9A1 | | not provided | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432388
- GRCh38:
- Chr1:27105897
| LOC126805673, SLC9A1 | | not provided | Likely benign (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432437
- GRCh38:
- Chr1:27105946
| LOC126805673, SLC9A1 | P475R | not provided | Uncertain significance (May 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432454
- GRCh38:
- Chr1:27105963
| LOC126805673, SLC9A1 | | not provided | Likely benign (May 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27432470
- GRCh38:
- Chr1:27105979
| LOC126805673, SLC9A1 | S464F | not provided | Uncertain significance (Jan 15, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr1:27432482
- GRCh38:
- Chr1:27105991
| LOC126805673, SLC9A1 | A460D | not provided | Uncertain significance (May 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432505
- GRCh38:
- Chr1:27106014
| LOC126805673, SLC9A1 | | not provided | Benign/Likely benign (Aug 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:27432510
- GRCh38:
- Chr1:27106019
| SLC9A1, LOC126805673 | I451L | Inborn genetic diseases | Likely pathogenic (Oct 2, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432538
- GRCh38:
- Chr1:27106047
| LOC126805673, SLC9A1 | I441M | not provided | Uncertain significance (Mar 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432539
- GRCh38:
- Chr1:27106048
| LOC126805673, SLC9A1 | I441T | Inborn genetic diseases | Uncertain significance (May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432580
- GRCh38:
- Chr1:27106089
| LOC126805673, SLC9A1 | | not provided | Uncertain significance (Nov 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432585
- GRCh38:
- Chr1:27106094
| LOC126805673, SLC9A1 | | not provided | Likely benign (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27432596
- GRCh38:
- Chr1:27106105
| LOC126805673, SLC9A1 | | not provided | Likely benign (Oct 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434129
- GRCh38:
- Chr1:27107638
| SLC9A1 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434209
- GRCh38:
- Chr1:27107718
| SLC9A1 | | not provided | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434215
- GRCh38:
- Chr1:27107724
| SLC9A1 | | not provided | Likely benign (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434224
- GRCh38:
- Chr1:27107733
| SLC9A1 | | not provided | Likely benign (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434251
- GRCh38:
- Chr1:27107760
| SLC9A1 | | not provided | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434274
- GRCh38:
- Chr1:27107783
| SLC9A1 | | not provided | Uncertain significance (Jul 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434309
- GRCh38:
- Chr1:27107818
| SLC9A1 | I371T | not provided | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434373
- GRCh38:
- Chr1:27107882
| SLC9A1 | | not provided | Benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27434374
- GRCh38:
- Chr1:27107883
| SLC9A1 | | not provided | Likely benign (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27436014
- GRCh38:
- Chr1:27109523
| SLC9A1 | | not provided | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27436029-27436030
- GRCh38:
- Chr1:27109538-27109539
| SLC9A1 | G352fs | Lichtenstein-Knorr syndrome | Likely pathogenic (Dec 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:27436031
- GRCh38:
- Chr1:27109540
| SLC9A1 | S351P | not provided | Uncertain significance (Dec 7, 2022) | criteria provided, single submitter |