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Items: 1 to 100 of 505

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:43180754-75475666
GRCh38:
Chr10:42685306-73715908
A1CF, ADAMTS14, ADO, AGAP10, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALOX5, ANAPC16, ANK3, ANK3-DT, ANTXRL, ANXA7, ANXA8, ANXA8L1, ARHGAP22, ARHGAP22-IT1, ARID5B, ASAH2, ASAH2B, ASCC1, ATOH7, BICC1, BMS1, C10orf105, C10orf53, C10orf71, C10orf71-AS1, CABCOCO1, CCAR1, CCDC6, CCEPR, CDH23, CDH23-AS1, CDK1, CFAP70, CHAT, CHST3, CISD1, COL13A1, CSGALNACT2, CSGALNACT2-DT, CSTF2T, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC132089774, LOC132089775, LOC132089776, LOC132089777, LOC132089778, LOC132089779, LOC132089780, LOC132089781, LOC132089782, LOC132089783, LOC132089784, LOC132089791, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132090807, LOC132090808, LOC132090809, LOC132090810, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132211101, LOC132211102, LOC283028, LOC283045, LRRC18, LRRC20, LRRTM3, MACROH2A2, MAPK8, MARCHF8, MBL2, MCS+9.7, MCU, MICU1, MIR1296, MIR3156-1, MIR3924, MIR4294, MIR4676, MIR5100, MIR548F1, MIR605, MIR7151, MIR7152, MRLN, MRPS16, MSMB, MSS51, MTRNR2L5, MYOZ1, MYPN, NCOA4, NEUROG3, NODAL, NPFFR1, NPY4R, NPY4R2, NRBF2, NUDT13, OGDHL, OIT3, OR13A1, P4HA1, PALD1, PARG, PBLD, PCBD1, PCDH15, PGBD3, PHYHIPL, PLA2G12B, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PSAP, PTPN20, RASGEF1A, RASSF4, RBP3, REEP3, RET, RHOBTB1, RTKN2, RUFY2, SAR1A, SGMS1, SGMS1-AS1, SGPL1, SIRT1, SLC16A9, SLC18A3, SLC25A16, SLC29A3, SNORA11F, SNORA74C-1, SNORA74C-2, SNORD3J, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, SYT15, SYT15-AS1, SYT15B, TACR2, TBATA, TET1, TFAM, TIMM23, TIMM23B, TIMM23B-AGAP6, TMEM26, TMEM26-AS1, TMEM273, TMEM72, TMEM72-AS1, TRS-TGA1-1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VPS26A, VSIR, VSTM4, WASHC2A, WASHC2C, WDFY4, ZFAND4, ZNF22, ZNF22-AS1, ZNF239, ZNF32, ZNF32-AS1, ZNF32-AS2, ZNF32-AS3, ZNF365, ZNF485, ZNF487, ZNF488, ZWINT, CTNNA3, CXCL12, DDIT4, DDIT4-AS1, DDX21, DDX50, DEPP1, DKK1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DRGX, ECD, EGR2, EIF4EBP2, ERCC6, FAM13C, FAM149B1, FAM170B, FAM170B-AS1, FAM241B, FAM245B, FAM25C, FAM25E, FAM25G, FRMPD2, FXYD4, GDF10, GDF2, GPRIN2, HERC4, HK1, HKDC1, HNRNPF, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KIFBP, LINC00619, LINC00840, LINC00841, LINC00842, LINC00844, LINC00845, LINC01264, LINC01515, LINC01518, LINC01553, LINC02621, LINC02622, LINC02623, LINC02632, LINC02636, LINC02637, LINC02651, LINC02658, LINC02659, LINC02671, LINC02672, LINC02881, LINC02916, LINC03029, LNCAROD, LOC101928961, LOC101928994, LOC102724323, LOC102724593, LOC102724719, LOC105378269, LOC105378289, LOC105378305, LOC105378311, LOC105378328, LOC105378577, LOC106736614, LOC107001062, LOC107832851, LOC107984236, LOC108178982, LOC110121478, LOC110121502, LOC110121503, LOC110121506, LOC110121507, LOC111365158, LOC111365196, LOC111818966, LOC111818967, LOC111946237, LOC111946238, LOC111946239, LOC111946240, LOC111946243, LOC111946244, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC112268068, LOC113939916, LOC114827857, LOC116216113, LOC116216114, LOC120807611, LOC121366050, LOC121366051, LOC121366052, LOC121366053, LOC121366054, LOC121366055, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121811730, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403944, LOC124403945, LOC124403946, LOC124403948, LOC124403949, LOC124403950, LOC124403951, LOC124403952, LOC124403953, LOC124403954, LOC124403955, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC126860919, LOC126860920, LOC126860921, LOC126860922, LOC126860923, LOC126860924, LOC126860925, LOC126860926, LOC126860927, LOC126860928, LOC126860929, LOC126860930, LOC126860931, LOC126860932, LOC126860933, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC129390166, LOC129390167, LOC129390168, LOC129390169, LOC129390170, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC130003704, LOC130003705, LOC130003706, LOC130003707, LOC130003708, LOC130003709, LOC130003710, LOC130003711, LOC130003712, LOC130003713, LOC130003714, LOC130003715, LOC130003716, LOC130003717, LOC130003718, LOC130003719, LOC130003720, LOC130003721, LOC130003722, LOC130003723, LOC130003724, LOC130003725, LOC130003726, LOC130003727, LOC130003728, LOC130003729, LOC130003730, LOC130003731, LOC130003732, LOC130003733, LOC130003734, LOC130003735, LOC130003736, LOC130003737, LOC130003738, LOC130003739, LOC130003740, LOC130003741, LOC130003742, LOC130003743, LOC130003744, LOC130003745, LOC130003746, LOC130003747, LOC130003748, LOC130003749, LOC130003750, LOC130003751, LOC130003752, LOC130003753, LOC130003754, LOC130003755, LOC130003756, LOC130003757, LOC130003758, LOC130003759, LOC130003760, LOC130003761, LOC130003762, LOC130003763, LOC130003764, LOC130003765, LOC130003766, LOC130003767, LOC130003768, LOC130003769, LOC130003770, LOC130003771, LOC130003772, LOC130003773, LOC130003774, LOC130003775, LOC130003776, LOC130003777, LOC130003778, LOC130003779, LOC130003780, LOC130003781, LOC130003782, LOC130003783, LOC130003784, LOC130003785, LOC130003786, LOC130003787, LOC130003788, LOC130003789, LOC130003790, LOC130003791, LOC130003792, LOC130003793, LOC130003794, LOC130003795, LOC130003796, LOC130003797, LOC130003798, LOC130003799, LOC130003800, LOC130003801, LOC130003802, LOC130003803, LOC130003804, LOC130003805, LOC130003806, LOC130003807, LOC130003808, LOC130003809, LOC130003810, LOC130003811, LOC130003812, LOC130003813, LOC130003814, LOC130003815, LOC130003816, LOC130003817, LOC130003818, LOC130003819, LOC130003820, LOC130003821, LOC130003822, LOC130003823, LOC130003824, LOC130003825, LOC130003826, LOC130003827, LOC130003828, LOC130003829, LOC130003830, LOC130003831, LOC130003832, LOC130003833, LOC130003834, LOC130003835, LOC130003836, LOC130003837, LOC130003838, LOC130003839, LOC130003840, LOC130003841, LOC130003842, LOC130003843, LOC130003844, LOC130003845, LOC130003846, LOC130003847, LOC130003848, LOC130003849, LOC130003850, LOC130003851, LOC130003852, LOC130003853, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978
See casesPathogenic
(Sep 30, 2010)		no assertion criteria provided
2.
GRCh37:
Chr10:52489127-88906961
GRCh38:
Chr10:50729367-87147204
LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462391, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC129390170, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC129390203, LOC129390204, LOC129390205, LOC129390206, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, LOC130003835, LOC130003836, LOC130003837, LOC130003838, LOC130003839, LOC130003840, LOC130003841, LOC130003842, LOC130003843, LOC130003844, LOC130003845, LOC130003846, LOC130003847, LOC130003848, LOC130003849, LOC130003850, LOC130003851, LOC130003852, LOC130003853, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC130004117, LOC130004118, LOC130004119, LOC130004120, LOC130004121, LOC130004122, LOC130004123, LOC130004124, LOC130004125, LOC130004126, LOC130004127, LOC130004128, LOC130004129, LOC130004130, LOC130004131, LOC130004132, LOC130004133, LOC130004134, LOC130004135, LOC130004136, LOC130004137, LOC130004138, LOC130004139, LOC130004140, LOC130004141, LOC130004142, LOC130004143, LOC130004144, LOC130004145, LOC130004146, LOC130004147, LOC130004148, LOC130004149, LOC130004150, LOC130004151, LOC130004152, LOC130004153, LOC130004154, LOC130004155, LOC130004156, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, LOC130004179, LOC130004180, LOC130004181, LOC130004182, LOC130004183, LOC130004184, LOC130004185, LOC130004186, LOC130004187, LOC130004188, LOC130004189, LOC130004190, LOC130004191, LOC130004192, LOC130004193, LOC130004194, LOC130004195, LOC130004196, LOC130004197, LOC130004198, LOC130004199, LOC130004200, LOC130004201, LOC130004202, LOC130004203, LOC130004204, LOC130004205, LOC130004206, LOC130004207, LOC130004208, LOC130004209, LOC130004210, LOC130004211, LOC130004212, LOC130004213, LOC130004214, LOC130004215, LOC130004216, LOC130004217, LOC130004218, LOC130004219, LOC130004220, LOC130004221, LOC130004222, LOC130004223, LOC130004224, LOC130004225, LOC130004226, LOC130004227, LOC130004228, LOC130004229, LOC130004230, LOC130004231, LOC130004232, LOC130004233, LOC130004234, LOC130004235, LOC130004236, LOC130004237, LOC130004238, LOC130004239, LOC130004240, LOC130004241, LOC130004242, LOC130004243, LOC130004244, LOC130004245, LOC130004246, LOC130004247, LOC130004248, LOC130004249, LOC130004250, LOC130004251, LOC130004252, LOC130004253, LOC130004254, LOC130004255, LOC130004256, LOC132089791, A1CF, ADAMTS14, ADIRF, ADIRF-AS1, ADK, ADO, AGAP11, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA11, ANXA7, AP3M1, ARID5B, ASAH2B, ASCC1, ATOH7, BICC1, BMPR1A, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CCSER2, CDH23, CDH23-AS1, CDHR1, CDK1, CERNA2, CFAP70, CHCHD1, CHST3, CISD1, COL13A1, COMTD1, CSTF2T, CTNNA3, DDIT4, DDIT4-AS1, DDX21, DDX50, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EGR2, EIF4EBP2, EIF5AL1, FAM13C, FAM149B1, FAM241B, FAM25A, FUT11, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, HERC4, HK1, HKDC1, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LDB3, LINC00595, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC01515, LINC01519, LINC01520, LINC01553, LINC02621, LINC02622, LINC02636, LINC02647, LINC02650, LINC02651, LINC02655, LINC02671, LINC02672, LINC02679, LNCAROD, LOC100130698, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102724719, LOC105378305, LOC105378311, LOC105378328, LOC105378367, LOC105378396, LOC107832851, LOC107984236, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC121815953, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132090824, LOC132211101, LOC132211102, LOC283045, LOC642361, LOC729815, LRIT1, LRIT2, LRMDA, LRRC20, LRRTM3, MACROH2A2, MAT1A, MBL2, MCU, MICU1, MIR1296, MIR346, MIR3924, MIR4676, MIR548F1, MIR605, MIR606, MIR7151, MIR7152, MMRN2, MRLN, MRPS16, MSS51, MTRNR2L5, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NRG3, NRG3-AS1, NUDT13, NUTM2B, NUTM2B-AS1, NUTM2E, OIT3, OPN4, P4HA1, PALD1, PBLD, PCBD1, PCDH15, PHYHIPL, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PRXL2A, PSAP, REEP3, RGR, RHOBTB1, RPS24, RTKN2, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNCG, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TFAM, TMEM254, TMEM254-AS1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN14, TSPAN14-AS1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, WAPL-DT, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT
See casesPathogenic
(Dec 16, 2011)		no assertion criteria provided
3.
GRCh37:
Chr10:60196226-76174974
GRCh38:
Chr10:58436466-74415216
LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC130003847, LOC130003848, LOC130003849, LOC130003850, LOC130003851, LOC130003852, LOC130003853, LOC130003854, LOC130003855, LOC130003856, LOC130003857, LOC130003858, LOC130003859, LOC130003860, LOC130003861, LOC130003862, LOC130003863, LOC130003864, LOC130003865, LOC130003866, LOC130003867, LOC130003868, LOC130003869, LOC130003870, LOC130003871, LOC130003872, LOC130003873, LOC130003874, LOC130003875, LOC130003876, LOC130003877, LOC130003878, LOC130003879, LOC130003880, LOC130003881, LOC130003882, LOC130003883, LOC130003884, LOC130003885, LOC130003886, LOC130003887, LOC130003888, LOC130003889, LOC130003890, LOC130003891, LOC130003892, LOC130003893, LOC130003894, LOC130003895, LOC130003896, LOC130003897, LOC130003898, LOC130003899, LOC130003900, LOC130003901, LOC130003902, LOC130003903, LOC130003904, LOC130003905, LOC130003906, LOC130003907, LOC130003908, LOC130003909, LOC130003910, LOC130003911, LOC130003912, LOC130003913, LOC130003914, LOC130003915, LOC130003916, LOC130003917, LOC130003918, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC132089793, LOC132089794, LOC132089795, LOC132089796, LOC132089797, LOC132089798, LOC132089799, LOC132089801, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132090811, LOC132090812, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132211101, LOC132211102, LOC283045, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR1296, MIR4676, MIR7151, MIR7152, MRLN, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PHYHIPL, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RHOBTB1, RTKN2, RUFY2, SAR1A, SEC24C, SGPL1, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNORA11F, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VPS26A, VSIR, ZNF365, ZSWIM8, ZSWIM8-AS1, ADAMTS14, ADK, ADO, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA7, AP3M1, ARID5B, ASCC1, ATOH7, BICC1, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CDH23, CDH23-AS1, CDK1, CFAP70, CHCHD1, CHST3, COL13A1, CTNNA3, DDIT4, DDIT4-AS1, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, ECD, EGR2, EIF4EBP2, FAM13C, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KIFBP, LINC00844, LINC00845, LINC01515, LINC01553, LINC02621, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC105378328, LOC107832851, LOC107984236, LOC108178982, LOC110121485, LOC111365158, LOC111365196, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC129390171, LOC129390172, LOC129390173, LOC129390174, LOC129390175, LOC129390176, LOC129390177, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC129390189
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
GRCh37:
Chr10:65162339-77055857
GRCh38:
Chr10:63402579-75296099
ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDIT4-AS1, DDX21, DDX50, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KIFBP, LINC01515, LINC02622, LINC02636, LINC02651, LINC02671, LOC101928961, LOC101928994, LOC101929165, LOC102723439, LOC107832851, LOC108178982, LOC110120903, LOC110121366, LOC110121382, LOC110121485, LOC111365158, LOC111365196, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC129390178, LOC129390179, LOC129390180, LOC129390181, LOC129390182, LOC129390183, LOC129390184, LOC129390185, LOC129390186, LOC129390187, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC129390203, LOC129390204, LOC129390205, LOC130003919, LOC130003920, LOC130003921, LOC130003922, LOC130003923, LOC130003924, LOC130003925, LOC130003926, LOC130003927, LOC130003928, LOC130003929, LOC130003930, LOC130003931, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC130004117, LOC130004118, LOC130004119, LOC130004120, LOC130004121, LOC130004122, LOC130004123, LOC130004124, LOC130004125, LOC130004126, LOC130004127, LOC130004128, LOC130004129, LOC130004130, LOC130004131, LOC130004132, LOC130004133, LOC130004134, LOC130004135, LOC130004136, LOC130004137, LOC130004138, LOC132089804, LOC132089805, LOC132089806, LOC132089807, LOC132089808, LOC132089809, LOC132089810, LOC132089811, LOC132089812, LOC132089813, LOC132089814, LOC132089815, LOC132089816, LOC132089817, LOC132089818, LOC132089819, LOC132089820, LOC132089821, LOC132089822, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132090813, LOC132090814, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132211102, LRRC20, LRRTM3, MACROH2A2, MCU, MICU1, MIR4676, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, PPA1, PPP3CB, PPP3CB-AS1, PRF1, PSAP, REEP3, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZNF503, ZSWIM8, ZSWIM8-AS1
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
5.
GRCh37:
Chr10:68956325-81181813
GRCh38:
Chr10:67196567-79422057
ADAMTS14, ADK, AGAP5, AIFM2, ANAPC16, ANXA7, AP3M1, ASCC1, ATOH7, C10orf105, C10orf55, CAMK2G, CCAR1, CDH23, CDH23-AS1, CFAP70, CHCHD1, CHST3, COL13A1, COMTD1, CTNNA3, DDIT4, DDIT4-AS1, DDX21, DDX50, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, ECD, EIF4EBP2, FAM149B1, FAM241B, FUT11, HERC4, HK1, HKDC1, HNRNPH3, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LINC00595, LINC00856, LINC02622, LINC02636, LINC02651, LOC101928994, LOC101929165, LOC101929234, LOC102723439, LOC105378367, LOC107832851, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC113939917, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963, LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC129390188, LOC129390189, LOC129390190, LOC129390191, LOC129390192, LOC129390193, LOC129390194, LOC129390195, LOC129390196, LOC129390197, LOC129390198, LOC129390199, LOC129390200, LOC129390201, LOC129390202, LOC129390203, LOC129390204, LOC129390205, LOC129390206, LOC130003932, LOC130003933, LOC130003934, LOC130003935, LOC130003936, LOC130003937, LOC130003938, LOC130003939, LOC130003940, LOC130003941, LOC130003942, LOC130003943, LOC130003944, LOC130003945, LOC130003946, LOC130003947, LOC130003948, LOC130003949, LOC130003950, LOC130003951, LOC130003952, LOC130003953, LOC130003954, LOC130003955, LOC130003956, LOC130003957, LOC130003958, LOC130003959, LOC130003960, LOC130003961, LOC130003962, LOC130003963, LOC130003964, LOC130003965, LOC130003966, LOC130003967, LOC130003968, LOC130003969, LOC130003970, LOC130003971, LOC130003972, LOC130003973, LOC130003974, LOC130003975, LOC130003976, LOC130003977, LOC130003978, LOC130003979, LOC130003980, LOC130003981, LOC130003982, LOC130003983, LOC130003984, LOC130003985, LOC130003986, LOC130003987, LOC130003988, LOC130003989, LOC130003990, LOC130003991, LOC130003992, LOC130003993, LOC130003994, LOC130003995, LOC130003996, LOC130003997, LOC130003998, LOC130003999, LOC130004000, LOC130004001, LOC130004002, LOC130004003, LOC130004004, LOC130004005, LOC130004006, LOC130004007, LOC130004008, LOC130004009, LOC130004010, LOC130004011, LOC130004012, LOC130004013, LOC130004014, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC130004025, LOC130004026, LOC130004027, LOC130004028, LOC130004029, LOC130004030, LOC130004031, LOC130004032, LOC130004033, LOC130004034, LOC130004035, LOC130004036, LOC130004037, LOC130004038, LOC130004039, LOC130004040, LOC130004041, LOC130004042, LOC130004043, LOC130004044, LOC130004045, LOC130004046, LOC130004047, LOC130004048, LOC130004049, LOC130004050, LOC130004051, LOC130004052, LOC130004053, LOC130004054, LOC130004055, LOC130004056, LOC130004057, LOC130004058, LOC130004059, LOC130004060, LOC130004061, LOC130004062, LOC130004063, LOC130004064, LOC130004065, LOC130004066, LOC130004067, LOC130004068, LOC130004069, LOC130004070, LOC130004071, LOC130004072, LOC130004073, LOC130004074, LOC130004075, LOC130004076, LOC130004077, LOC130004078, LOC130004079, LOC130004080, LOC130004081, LOC130004082, LOC130004083, LOC130004084, LOC130004085, LOC130004086, LOC130004087, LOC130004088, LOC130004089, LOC130004090, LOC130004091, LOC130004092, LOC130004093, LOC130004094, LOC130004095, LOC130004096, LOC130004097, LOC130004098, LOC130004099, LOC130004100, LOC130004101, LOC130004102, LOC130004103, LOC130004104, LOC130004105, LOC130004106, LOC130004107, LOC130004108, LOC130004109, LOC130004110, LOC130004111, LOC130004112, LOC130004113, LOC130004114, LOC130004115, LOC130004116, LOC130004117, LOC130004118, LOC130004119, LOC130004120, LOC130004121, LOC130004122, LOC130004123, LOC130004124, LOC130004125, LOC130004126, LOC130004127, LOC130004128, LOC130004129, LOC130004130, LOC130004131, LOC130004132, LOC130004133, LOC130004134, LOC130004135, LOC130004136, LOC130004137, LOC130004138, LOC130004139, LOC130004140, LOC130004141, LOC130004142, LOC130004143, LOC130004144, LOC130004145, LOC130004146, LOC130004147, LOC130004148, LOC130004149, LOC130004150, LOC130004151, LOC130004152, LOC130004153, LOC130004154, LOC130004155, LOC130004156, LOC130004157, LOC130004158, LOC130004159, LOC130004160, LOC130004161, LOC130004162, LOC130004163, LOC130004164, LOC130004165, LOC130004166, LOC130004167, LOC130004168, LOC130004169, LOC130004170, LOC130004171, LOC130004172, LOC130004173, LOC130004174, LOC130004175, LOC130004176, LOC130004177, LOC130004178, LOC130004179, LOC132089823, LOC132089824, LOC132089825, LOC132089826, LOC132089827, LOC132089828, LOC132089829, LOC132089830, LOC132089831, LOC132089832, LOC132089833, LOC132089834, LOC132089835, LOC132089836, LOC132089837, LOC132089838, LOC132089839, LOC132089840, LOC132089841, LOC132089842, LOC132089843, LOC132089844, LOC132089845, LOC132089846, LOC132089847, LOC132089849, LOC132089850, LOC132089851, LOC132089852, LOC132089853, LOC132089854, LOC132089855, LOC132089856, LOC132089857, LOC132089858, LOC132089859, LOC132089860, LOC132089862, LOC132089863, LOC132089864, LOC132089865, LOC132089866, LOC132090815, LOC132090816, LOC132090817, LOC132090818, LOC132090819, LOC132090820, LOC132090821, LOC132090822, LOC132090823, LOC132211102, LRMDA, LRRC20, MACROH2A2, MCU, MICU1, MIR4676, MIR606, MIR7151, MIR7152, MRPS16, MSS51, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NUDT13, OIT3, P4HA1, PALD1, PBLD, PCBD1, PLA2G12B, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PSAP, RPS24, RUFY2, SAMD8, SAR1A, SEC24C, SGPL1, SIRT1, SLC25A16, SLC29A3, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TRS-TGA1-1, TSPAN15, TYSND1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1
See casesPathogenic
(Jul 30, 2009)		no assertion criteria provided
6.
GRCh37:
Chr10:72356134-73047985
GRCh38:
Chr10:70596378-71288228
ADAMTS14, LINC02622, LOC111982867, LOC111982868, LOC116216114, LOC121366060, LOC121815946, LOC124416833, LOC126860952, LOC130004015, LOC130004016, LOC130004017, LOC130004018, LOC130004019, LOC130004020, LOC130004021, LOC130004022, LOC130004023, LOC130004024, LOC132089865, LOC132089866, LOC132090823, PCBD1, PRF1, SGPL1, TBATA, UNC5B, UNC5B-AS1
See casesUncertain significance
(Jul 10, 2013)		no assertion criteria provided
7.
GRCh37:
Chr10:72357094
GRCh38:
Chr10:70597338
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
8.
GRCh37:
Chr10:72357145
GRCh38:
Chr10:70597389
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr10:72357250
GRCh38:
Chr10:70597494
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
10.
GRCh37:
Chr10:72357269
GRCh38:
Chr10:70597513
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr10:72357288
GRCh38:
Chr10:70597532
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
12.
GRCh37:
Chr10:72357323
GRCh38:
Chr10:70597567
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr10:72357368
GRCh38:
Chr10:70597612
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr10:72357433
GRCh38:
Chr10:70597677
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr10:72357442
GRCh38:
Chr10:70597686
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr10:72357443
GRCh38:
Chr10:70597687
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Apr 27, 2017)		criteria provided, single submitter
17.
GRCh37:
Chr10:72357600-72357601
GRCh38:
Chr10:70597844-70597845
PRF1not providedBenign
(Jun 19, 2021)		criteria provided, single submitter
18.
GRCh37:
Chr10:72357600
GRCh38:
Chr10:70597844
PRF1Familial hemophagocytic lymphohistiocytosis, not providedBenign
(Jun 19, 2021)		criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:72357616
GRCh38:
Chr10:70597860
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr10:72357633
GRCh38:
Chr10:70597877
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Mar 23, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr10:72357635
GRCh38:
Chr10:70597879
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr10:72357670
GRCh38:
Chr10:70597914
PRF1Familial hemophagocytic lymphohistiocytosis 2Benign
(Apr 27, 2017)		criteria provided, single submitter
23.
GRCh37:
Chr10:72357670
GRCh38:
Chr10:70597914
PRF1Familial hemophagocytic lymphohistiocytosis 2Benign
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr10:72357697
GRCh38:
Chr10:70597941
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr10:72357713
GRCh38:
Chr10:70597957
PRF1not provided, not specified, Familial hemophagocytic lymphohistiocytosis 2
Benign
(Nov 14, 2023)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:72357720
GRCh38:
Chr10:70597964
PRF1not provided, Familial hemophagocytic lymphohistiocytosis 2Benign
(Nov 12, 2018)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr10:72357763
GRCh38:
Chr10:70598007
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr10:72357817
GRCh38:
Chr10:70598061
PRF1V554MFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
29.
GRCh37:
Chr10:72357827
GRCh38:
Chr10:70598071
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Sep 20, 2019)		criteria provided, single submitter
30.
GRCh37:
Chr10:72357829
GRCh38:
Chr10:70598073
PRF1R550WInborn genetic diseasesUncertain significance
(Jul 9, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr10:72357841
GRCh38:
Chr10:70598085
PRF1P546AFamilial hemophagocytic lymphohistiocytosis 2, Aplastic anemiaUncertain significance
(Aug 16, 2022)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:72357848
GRCh38:
Chr10:70598092
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Mar 12, 2022)		criteria provided, single submitter
33.
GRCh37:
Chr10:72357848
GRCh38:
Chr10:70598092
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Dec 2, 2021)		criteria provided, single submitter
34.
GRCh37:
Chr10:72357848
GRCh38:
Chr10:70598092
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Sep 6, 2022)		criteria provided, single submitter
35.
GRCh37:
Chr10:72357848-72357849
GRCh38:
Chr10:70598092-70598093
PRF1E545fsFamilial hemophagocytic lymphohistiocytosis 2, Familial hemophagocytic lymphohistiocytosisConflicting interpretations of pathogenicity
(Oct 1, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:72357851
GRCh38:
Chr10:70598095
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Jul 24, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr10:72357857
GRCh38:
Chr10:70598101
PRF1not provided, Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
Conflicting interpretations of pathogenicity
(Nov 1, 2022)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr10:72357862
GRCh38:
Chr10:70598106
PRF1P539SInborn genetic diseasesUncertain significance
(Dec 14, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr10:72357875
GRCh38:
Chr10:70598119
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Aug 20, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr10:72357882
GRCh38:
Chr10:70598126
PRF1G532fsAutoinflammatory syndromeLikely pathogenic
(Oct 2, 2017)		criteria provided, single submitter
41.
GRCh37:
Chr10:72357883
GRCh38:
Chr10:70598127
PRF1G532SFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Sep 24, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr10:72357888
GRCh38:
Chr10:70598132
PRF1G530EFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jun 5, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr10:72357892
GRCh38:
Chr10:70598136
PRF1L529MLymphoma, non-Hodgkin, familialUncertain significance
(Apr 11, 2019)		criteria provided, single submitter
44.
GRCh37:
Chr10:72357917
GRCh38:
Chr10:70598161
PRF1Familial hemophagocytic lymphohistiocytosis 2, Lymphoma, non-Hodgkin, familialBenign
(Jul 7, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:72357919
GRCh38:
Chr10:70598163
PRF1R520CFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Sep 10, 2021)		criteria provided, single submitter
46.
GRCh37:
Chr10:72357935
GRCh38:
Chr10:70598179
PRF1H514QFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 16, 2022)		criteria provided, single submitter
47.
GRCh37:
Chr10:72357937
GRCh38:
Chr10:70598181
PRF1H514DFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jul 23, 2022)		criteria provided, single submitter
48.
GRCh37:
Chr10:72357949
GRCh38:
Chr10:70598193
PRF1C510RFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(May 5, 2020)		criteria provided, single submitter
49.
GRCh37:
Chr10:72357966
GRCh38:
Chr10:70598210
PRF1G504Vnot specifiedUncertain significance
(May 4, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr10:72357976
GRCh38:
Chr10:70598220
PRF1P501SFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Aug 26, 2021)		criteria provided, single submitter
51.
GRCh37:
Chr10:72357980
GRCh38:
Chr10:70598224
PRF1Q499HFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jul 20, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr10:72357987
GRCh38:
Chr10:70598231
PRF1C497SFamilial hemophagocytic lymphohistiocytosis 2, not providedUncertain significance
(Feb 10, 2023)		criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr10:72358000
GRCh38:
Chr10:70598244
PRF1L493FFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
54.
GRCh37:
Chr10:72358006
GRCh38:
Chr10:70598250
PRF1D491NFamilial hemophagocytic lymphohistiocytosis 2Likely pathogenic
(Sep 7, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr10:72358007
GRCh38:
Chr10:70598251
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Aug 4, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr10:72358023
GRCh38:
Chr10:70598267
PRF1Q485RFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jun 24, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr10:72358027
GRCh38:
Chr10:70598271
PRF1D484NFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Dec 24, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr10:72358033
GRCh38:
Chr10:70598277
PRF1V482FFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jun 14, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr10:72358035
GRCh38:
Chr10:70598279
PRF1Q481Pnot provided, Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis 2
Conflicting interpretations of pathogenicity
(Sep 29, 2022)		criteria provided, conflicting interpretations
60.
GRCh37:
Chr10:72358043
GRCh38:
Chr10:70598287
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Sep 19, 2022)		criteria provided, single submitter
61.
GRCh37:
Chr10:72358045
GRCh38:
Chr10:70598289
PRF1Inborn genetic diseasesPathogenic
(Apr 21, 2023)		criteria provided, single submitter
62.
GRCh37:
Chr10:72358047
GRCh38:
Chr10:70598291
PRF1P477LFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Mar 21, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr10:72358048-72358049
GRCh38:
Chr10:70598292-70598293
PRF1P477fsFamilial hemophagocytic lymphohistiocytosis 2Pathogenic
(Jul 8, 2022)		criteria provided, single submitter
64.
GRCh37:
Chr10:72358048
GRCh38:
Chr10:70598292
PRF1P477AFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Dec 2, 2021)		criteria provided, single submitter
65.
GRCh37:
Chr10:72358048
GRCh38:
Chr10:70598292
PRF1P477TFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
66.
GRCh37:
Chr10:72358049
GRCh38:
Chr10:70598293
PRF1Familial hemophagocytic lymphohistiocytosis 2Pathogenic
(Sep 13, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr10:72358049-72358071
GRCh38:
Chr10:70598293-70598315
PRF1D469fsFamilial hemophagocytic lymphohistiocytosis 2Pathogenic
(Jun 13, 2022)		criteria provided, single submitter
68.
GRCh37:
Chr10:72358049
GRCh38:
Chr10:70598293
PRF1Familial hemophagocytic lymphohistiocytosis 2Benign
(Oct 19, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr10:72358050
GRCh38:
Chr10:70598294
PRF1G476EFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
70.
GRCh37:
Chr10:72358053
GRCh38:
Chr10:70598297
PRF1G475EFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
71.
GRCh37:
Chr10:72358055
GRCh38:
Chr10:70598299
PRF1Familial hemophagocytic lymphohistiocytosis 2Pathogenic
(Sep 22, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr10:72358059
GRCh38:
Chr10:70598303
PRF1A473GInborn genetic diseasesUncertain significance
(Mar 27, 2023)		criteria provided, single submitter
73.
GRCh37:
Chr10:72358066
GRCh38:
Chr10:70598310
PRF1L471FFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Sep 7, 2022)		criteria provided, single submitter
74.
GRCh37:
Chr10:72358085
GRCh38:
Chr10:70598329
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Jun 17, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr10:72358087
GRCh38:
Chr10:70598331
PRF1R464Wnot provided, Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(May 30, 2022)		criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:72358092
GRCh38:
Chr10:70598336
PRF1S462*Familial hemophagocytic lymphohistiocytosis 2Pathogenic
(Sep 1, 2017)		criteria provided, single submitter
77.
GRCh37:
Chr10:72358099
GRCh38:
Chr10:70598343
PRF1I460VFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(May 13, 2022)		criteria provided, single submitter
78.
GRCh37:
Chr10:72358100
GRCh38:
Chr10:70598344
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Oct 24, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr10:72358112
GRCh38:
Chr10:70598356
PRF1D455EInborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Oct 5, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:72358120
GRCh38:
Chr10:70598364
PRF1V453MAutoinflammatory syndrome, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2
Likely benign
(Sep 7, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr10:72358121
GRCh38:
Chr10:70598365
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Aug 15, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr10:72358124
GRCh38:
Chr10:70598368
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Aug 5, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr10:72358127
GRCh38:
Chr10:70598371
PRF1Autoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2Conflicting interpretations of pathogenicity
(May 20, 2022)		criteria provided, conflicting interpretations
84.
GRCh37:
Chr10:72358128
GRCh38:
Chr10:70598372
PRF1T450Mnot provided, Familial hemophagocytic lymphohistiocytosis 2Pathogenic/Likely pathogenic
(Mar 14, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:72358130
GRCh38:
Chr10:70598374
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Feb 11, 2021)		criteria provided, single submitter
86.
GRCh37:
Chr10:72358138
GRCh38:
Chr10:70598382
PRF1E447QFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
87.
GRCh37:
Chr10:72358140
GRCh38:
Chr10:70598384
PRF1Q446PFamilial hemophagocytic lymphohistiocytosis 2Pathogenic/Likely pathogenic
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:72358142
GRCh38:
Chr10:70598386
PRF1Familial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 17, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr10:72358143
GRCh38:
Chr10:70598387
PRF1G445DLymphoma, non-Hodgkin, familial, Aplastic anemia, Familial hemophagocytic lymphohistiocytosis 2,
not provided, Familial hemophagocytic lymphohistiocytosis 2		Uncertain significance
(Mar 23, 2022)		criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr10:72358153
GRCh38:
Chr10:70598397
PRF1F442LFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Feb 20, 2022)		criteria provided, single submitter
91.
GRCh37:
Chr10:72358155
GRCh38:
Chr10:70598399
PRF1L441PFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Oct 9, 2021)		criteria provided, single submitter
92.
GRCh37:
Chr10:72358160
GRCh38:
Chr10:70598404
PRF1Familial hemophagocytic lymphohistiocytosis 2Likely benign
(Jul 21, 2021)		criteria provided, single submitter
93.
GRCh37:
Chr10:72358163
GRCh38:
Chr10:70598407
PRF1Y438*not provided, Familial hemophagocytic lymphohistiocytosis 2Pathogenic/Likely pathogenic
(Aug 23, 2022)		criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:72358164
GRCh38:
Chr10:70598408
PRF1Y438CFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
95.
GRCh37:
Chr10:72358167
GRCh38:
Chr10:70598411
PRF1A437Vnot specified, Inborn genetic diseases, Familial hemophagocytic lymphohistiocytosis 2,
Autoinflammatory syndrome, not provided		Conflicting interpretations of pathogenicity
(Oct 21, 2022)		criteria provided, conflicting interpretations
96.
GRCh37:
Chr10:72358172
GRCh38:
Chr10:70598416
PRF1Familial hemophagocytic lymphohistiocytosis 2Conflicting interpretations of pathogenicity
(Jul 19, 2022)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr10:72358173
GRCh38:
Chr10:70598417
PRF1T435MAutoinflammatory syndrome, Familial hemophagocytic lymphohistiocytosis 2Likely pathogenic
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr10:72358191
GRCh38:
Chr10:70598435
PRF1G429EFamilial hemophagocytic lymphohistiocytosis 2Pathogenic
(Dec 3, 1999)		no assertion criteria provided
99.
GRCh37:
Chr10:72358194
GRCh38:
Chr10:70598438
PRF1W428LFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Jan 2, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr10:72358197
GRCh38:
Chr10:70598441
PRF1L427RFamilial hemophagocytic lymphohistiocytosis 2Uncertain significance
(Apr 29, 2022)		criteria provided, single submitter
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