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Items: 1 to 100 of 162

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
2.
GRCh37:
Chr1:27133503-28011702
GRCh38:
Chr1:26807012-27685191
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr1:27181127-27972340
GRCh38:
Chr1:26854636-27645829
See casesUncertain significance
(Aug 2, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr1:27426796
GRCh38:
Chr1:27100305
SLC9A1Lichtenstein-Knorr syndromeBenign
(Jul 15, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr1:27426847
GRCh38:
Chr1:27100356
SLC9A1P800Lnot providedUncertain significance
(Jan 10, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr1:27426849
GRCh38:
Chr1:27100358
SLC9A1not providedLikely benign
(May 7, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr1:27426853
GRCh38:
Chr1:27100362
SLC9A1P798Lnot providedUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:27426853
GRCh38:
Chr1:27100362
SLC9A1P798Rnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr1:27426875
GRCh38:
Chr1:27100384
SLC9A1I791VInborn genetic diseases, not providedUncertain significance
(Aug 4, 2023)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:27426889
GRCh38:
Chr1:27100398
SLC9A1P786Lnot providedUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:27426894
GRCh38:
Chr1:27100403
SLC9A1D784Enot providedUncertain significance
(Jan 13, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:27426927
GRCh38:
Chr1:27100436
SLC9A1not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:27426953
GRCh38:
Chr1:27100462
SLC9A1R765Wnot providedUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:27426971
GRCh38:
Chr1:27100480
SLC9A1D759NInborn genetic diseasesUncertain significance
(Mar 14, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr1:27426972
GRCh38:
Chr1:27100481
SLC9A1not providedLikely benign
(Oct 21, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:27426974
GRCh38:
Chr1:27100483
SLC9A1D758NInborn genetic diseasesUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr1:27426975
GRCh38:
Chr1:27100484
SLC9A1not providedLikely benign
(Aug 25, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:27426980
GRCh38:
Chr1:27100489
SLC9A1E756Knot providedUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:27426987
GRCh38:
Chr1:27100496
SLC9A1not providedBenign
(Sep 28, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr1:27427009
GRCh38:
Chr1:27100518
SLC9A1R746QInborn genetic diseasesUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:27427010
GRCh38:
Chr1:27100519
SLC9A1R746WInborn genetic diseasesUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:27427019
GRCh38:
Chr1:27100528
SLC9A1G743Rnot providedUncertain significance
(Jul 28, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:27427038
GRCh38:
Chr1:27100547
SLC9A1E736DInborn genetic diseasesUncertain significance
(Feb 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr1:27427041
GRCh38:
Chr1:27100550
SLC9A1not provided, Lichtenstein-Knorr syndromeBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr1:27427065
GRCh38:
Chr1:27100574
SLC9A1not providedLikely benign
(Oct 5, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:27427084
GRCh38:
Chr1:27100593
SLC9A1P721Lnot providedUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:27427087
GRCh38:
Chr1:27100596
SLC9A1D720Gnot providedUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
29.
GRCh37:
Chr1:27427110
GRCh38:
Chr1:27100619
SLC9A1not providedLikely benign
(Aug 17, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:27427117
GRCh38:
Chr1:27100626
SLC9A1P710Lnot providedUncertain significance
(Aug 8, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr1:27427677
GRCh38:
Chr1:27101186
SLC9A1not providedLikely benign
(Sep 15, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr1:27427681
GRCh38:
Chr1:27101190
SLC9A1not providedLikely benign
(Aug 28, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr1:27427701
GRCh38:
Chr1:27101210
SLC9A1not providedLikely benign
(Apr 6, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:27427703
GRCh38:
Chr1:27101212
SLC9A1I701VInborn genetic diseasesUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:27427712
GRCh38:
Chr1:27101221
SLC9A1not providedUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:27427718
GRCh38:
Chr1:27101227
SLC9A1M696Vnot providedBenign
(Sep 25, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:27427733-27427734
GRCh38:
Chr1:27101242-27101243
SLC9A1K690Nnot providedUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:27427784
GRCh38:
Chr1:27101293
SLC9A1not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr1:27427786
GRCh38:
Chr1:27101295
SLC9A1not providedLikely benign
(Aug 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:27428197
GRCh38:
Chr1:27101706
SLC9A1not providedBenign
(Oct 18, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:27428222
GRCh38:
Chr1:27101731
SLC9A1Lichtenstein-Knorr syndrome, not providedConflicting interpretations of pathogenicity
(Aug 23, 2022)
criteria provided, conflicting interpretations
42.
GRCh37:
Chr1:27428233
GRCh38:
Chr1:27101742
SLC9A1R674WInborn genetic diseasesUncertain significance
(May 25, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:27428276
GRCh38:
Chr1:27101785
SLC9A1not providedLikely benign
(Jul 23, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:27428285
GRCh38:
Chr1:27101794
SLC9A1not providedLikely benign
(Sep 24, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:27428286
GRCh38:
Chr1:27101795
SLC9A1A656GInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr1:27428314
GRCh38:
Chr1:27101823
SLC9A1R647Wnot providedUncertain significance
(Jul 22, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr1:27428321-27428322
GRCh38:
Chr1:27101830-27101831
SLC9A1not providedUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:27428321
GRCh38:
Chr1:27101830
SLC9A1not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:27428333
GRCh38:
Chr1:27101842
SLC9A1not providedBenign
(Oct 25, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:27428334
GRCh38:
Chr1:27101843
SLC9A1not providedLikely benign
(Jul 18, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:27428496
GRCh38:
Chr1:27102005
SLC9A1not providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr1:27428531
GRCh38:
Chr1:27102040
SLC9A1N637KInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr1:27428547
GRCh38:
Chr1:27102056
SLC9A1R632Hnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:27428548
GRCh38:
Chr1:27102057
SLC9A1R632Cnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:27428552
GRCh38:
Chr1:27102061
SLC9A1E630Dnot providedUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:27428593
GRCh38:
Chr1:27102102
SLC9A1E617KInborn genetic diseasesUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:27428594
GRCh38:
Chr1:27102103
SLC9A1not providedLikely benign
(Apr 16, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr1:27428612
GRCh38:
Chr1:27102121
SLC9A1H610Qnot providedUncertain significance
(Apr 5, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr1:27428621
GRCh38:
Chr1:27102130
SLC9A1Lichtenstein-Knorr syndrome, not providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:27428626
GRCh38:
Chr1:27102135
SLC9A1not providedLikely benign
(May 29, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr1:27428887-27428889
GRCh38:
Chr1:27102396-27102398
SLC9A1T603delnot providedBenign
(Aug 22, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:27428919
GRCh38:
Chr1:27102428
SLC9A1G593Cnot providedUncertain significance
(Jun 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:27428923
GRCh38:
Chr1:27102432
SLC9A1not providedBenign
(Nov 1, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:27428938
GRCh38:
Chr1:27102447
SLC9A1not providedLikely benign
(Aug 1, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:27429001
GRCh38:
Chr1:27102510
SLC9A1not providedConflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr1:27429055-27429056
GRCh38:
Chr1:27102564-27102565
SLC9A1not providedBenign
(Sep 2, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:27429056-27429058
GRCh38:
Chr1:27102565-27102567
SLC9A1not providedLikely benign
(May 11, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr1:27429151
GRCh38:
Chr1:27102660
SLC9A1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:27429178
GRCh38:
Chr1:27102687
SLC9A1not providedLikely benign
(May 5, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:27429225
GRCh38:
Chr1:27102734
SLC9A1H529Ynot provided, Inborn genetic diseasesUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr1:27429241
GRCh38:
Chr1:27102750
SLC9A1not providedLikely benign
(Jul 21, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:27429733
GRCh38:
Chr1:27103242
SLC9A1N519Snot providedUncertain significance
(Oct 31, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:27429747
GRCh38:
Chr1:27103256
SLC9A1not providedLikely benign
(Jul 23, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:27429767
GRCh38:
Chr1:27103276
SLC9A1V508Lnot providedUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:27429805-27429806
GRCh38:
Chr1:27103314-27103315
SLC9A1not providedLikely benign
(Sep 21, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:27429807
GRCh38:
Chr1:27103316
SLC9A1not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:27432388
GRCh38:
Chr1:27105897
LOC126805673, SLC9A1not providedLikely benign
(Jun 9, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:27432437
GRCh38:
Chr1:27105946
LOC126805673, SLC9A1P475Rnot providedUncertain significance
(May 1, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr1:27432454
GRCh38:
Chr1:27105963
LOC126805673, SLC9A1not providedLikely benign
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:27432470
GRCh38:
Chr1:27105979
LOC126805673, SLC9A1S464Fnot providedUncertain significance
(Jan 15, 2015)
no assertion criteria provided
81.
GRCh37:
Chr1:27432482
GRCh38:
Chr1:27105991
LOC126805673, SLC9A1A460Dnot providedUncertain significance
(May 1, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr1:27432505
GRCh38:
Chr1:27106014
LOC126805673, SLC9A1not providedBenign/Likely benign
(Aug 1, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:27432510
GRCh38:
Chr1:27106019
SLC9A1, LOC126805673I451LInborn genetic diseasesLikely pathogenic
(Oct 2, 2015)
criteria provided, single submitter
84.
GRCh37:
Chr1:27432538
GRCh38:
Chr1:27106047
LOC126805673, SLC9A1I441Mnot providedUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:27432539
GRCh38:
Chr1:27106048
LOC126805673, SLC9A1I441TInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr1:27432580
GRCh38:
Chr1:27106089
LOC126805673, SLC9A1not providedUncertain significance
(Nov 27, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr1:27432585
GRCh38:
Chr1:27106094
LOC126805673, SLC9A1not providedLikely benign
(May 15, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:27432596
GRCh38:
Chr1:27106105
LOC126805673, SLC9A1not providedLikely benign
(Oct 14, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:27434129
GRCh38:
Chr1:27107638
SLC9A1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr1:27434209
GRCh38:
Chr1:27107718
SLC9A1not providedLikely benign
(Aug 31, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr1:27434215
GRCh38:
Chr1:27107724
SLC9A1not providedLikely benign
(Jun 11, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:27434224
GRCh38:
Chr1:27107733
SLC9A1not providedLikely benign
(Oct 4, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:27434251
GRCh38:
Chr1:27107760
SLC9A1not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr1:27434274
GRCh38:
Chr1:27107783
SLC9A1not providedUncertain significance
(Jul 1, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr1:27434309
GRCh38:
Chr1:27107818
SLC9A1I371Tnot providedUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr1:27434373
GRCh38:
Chr1:27107882
SLC9A1not providedBenign
(May 12, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:27434374
GRCh38:
Chr1:27107883
SLC9A1not providedLikely benign
(Feb 20, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:27436014
GRCh38:
Chr1:27109523
SLC9A1not providedUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr1:27436029-27436030
GRCh38:
Chr1:27109538-27109539
SLC9A1G352fsLichtenstein-Knorr syndromeLikely pathogenic
(Dec 17, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr1:27436031
GRCh38:
Chr1:27109540
SLC9A1S351Pnot providedUncertain significance
(Dec 7, 2022)
criteria provided, single submitter
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