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Items: 1 to 100 of 445

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:
Chr10:73724260
GRCh38:
Chr10:71964502
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr10:73724266
GRCh38:
Chr10:71964508
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Benign
(Jun 14, 2016)
criteria provided, single submitter
8.
GRCh37:
Chr10:73724286
GRCh38:
Chr10:71964528
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr10:73724288
GRCh38:
Chr10:71964530
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr10:73724295
GRCh38:
Chr10:71964537
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr10:73724396
GRCh38:
Chr10:71964638
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr10:73724429
GRCh38:
Chr10:71964671
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:73724458
GRCh38:
Chr10:71964700
CHST3Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita, Larsen syndrome,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr10:73765213
GRCh38:
Chr10:72005455
CHST3not providedBenign
(Sep 5, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr10:73765503
GRCh38:
Chr10:72005745
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr10:73765550
GRCh38:
Chr10:72005792
CHST3Larsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
17.
GRCh37:
Chr10:73765602
GRCh38:
Chr10:72005844
CHST3M1TSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 7, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:73765607
GRCh38:
Chr10:72005849
CHST3K3QSkeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Inborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(May 18, 2023)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr10:73765607
GRCh38:
Chr10:72005849
CHST3K3Enot provided, Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Oct 8, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:73765611
GRCh38:
Chr10:72005853
CHST3G4ESpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr10:73765619
GRCh38:
Chr10:72005861
CHST3L7MSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Sep 3, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr10:73765622
GRCh38:
Chr10:72005864
CHST3P8SInborn genetic diseasesUncertain significance
(Jul 6, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr10:73765634
GRCh38:
Chr10:72005876
CHST3R12WSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr10:73765636
GRCh38:
Chr10:72005878
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Jan 4, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:73765637
GRCh38:
Chr10:72005879
CHST3D13NSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 9, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr10:73765648
GRCh38:
Chr10:72005890
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Jul 5, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:73765654
GRCh38:
Chr10:72005896
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Dec 2, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr10:73765657-73765658
GRCh38:
Chr10:72005899-72005900
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(May 19, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:73765672
GRCh38:
Chr10:72005914
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations, not providedLikely benign
(Mar 4, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:73765682-73765683
GRCh38:
Chr10:72005924-72005925
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr10:73765683
GRCh38:
Chr10:72005925
CHST3L28*Spondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(Jan 15, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:73765685
GRCh38:
Chr10:72005927
CHST3V29FSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr10:73765700
GRCh38:
Chr10:72005942
CHST3V34ISpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr10:73765708
GRCh38:
Chr10:72005950
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocations, Larsen-like syndrome, B3GAT3 type, Spondyloepiphyseal dysplasia with congenital joint dislocations
Benign/Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr10:73765711
GRCh38:
Chr10:72005953
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Jul 12, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr10:73765714
GRCh38:
Chr10:72005956
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Oct 19, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:73765733
GRCh38:
Chr10:72005975
CHST3I45LSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:73765773
GRCh38:
Chr10:72006015
CHST3not providedBenign
(Sep 5, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr10:73765995
GRCh38:
Chr10:72006237
CHST3not providedBenign
(Sep 5, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr10:73766916
GRCh38:
Chr10:72007158
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Oct 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr10:73766929-73766930
GRCh38:
Chr10:72007171-72007172
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely pathogenic
(Feb 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:73766929
GRCh38:
Chr10:72007171
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(May 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr10:73766954-73766955
GRCh38:
Chr10:72007196-72007197
CHST3N63fsnot providedLikely pathogenic
(Nov 30, 2019)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr10:73766956
GRCh38:
Chr10:72007198
CHST3P56Hnot providedUncertain significance
(May 18, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr10:73766957
GRCh38:
Chr10:72007199
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Jul 19, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:73766964
GRCh38:
Chr10:72007206
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Oct 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:73766971
GRCh38:
Chr10:72007213
CHST3D61GSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr10:73766984
GRCh38:
Chr10:72007226
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsConflicting interpretations of pathogenicity
(Jul 18, 2021)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr10:73766985
GRCh38:
Chr10:72007227
CHST3D66NSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr10:73766990
GRCh38:
Chr10:72007232
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Jul 3, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr10:73766991
GRCh38:
Chr10:72007233
CHST3A68Tnot provided, Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:73767025
GRCh38:
Chr10:72007267
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(Jul 1, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:73767032
GRCh38:
Chr10:72007274
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Oct 13, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:73767033
GRCh38:
Chr10:72007275
CHST3E82KLarsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:73767057
GRCh38:
Chr10:72007299
CHST3L90FSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 6, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:73767058
GRCh38:
Chr10:72007300
CHST3L90PInborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jul 5, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:73767060
GRCh38:
Chr10:72007302
CHST3Q91*Spondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(Aug 9, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:73767065
GRCh38:
Chr10:72007307
CHST3S92RSkeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Inborn genetic diseases, Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Aug 5, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:73767084
GRCh38:
Chr10:72007326
CHST3L99MSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:73767085
GRCh38:
Chr10:72007327
CHST3L99SSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:73767095
GRCh38:
Chr10:72007337
CHST3not providedLikely benign
(Jun 1, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr10:73767095
GRCh38:
Chr10:72007337
CHST3Skeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Conflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
63.
GRCh37:
Chr10:73767096
GRCh38:
Chr10:72007338
CHST3V103MSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jun 2, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr10:73767100
GRCh38:
Chr10:72007342
CHST3E104Gnot provided, Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:73767102
GRCh38:
Chr10:72007344
CHST3P105ASpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:73767105
GRCh38:
Chr10:72007347
CHST3A106TSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 19, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:73767109
GRCh38:
Chr10:72007351
CHST3M107KSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 4, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:73767111
GRCh38:
Chr10:72007353
CHST3E108KSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:73767116
GRCh38:
Chr10:72007358
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(May 31, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:73767117
GRCh38:
Chr10:72007359
CHST3A110TSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jul 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:73767123
GRCh38:
Chr10:72007365
CHST3E112KSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jul 28, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr10:73767123
GRCh38:
Chr10:72007365
CHST3E112*Spondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(Sep 25, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr10:73767129
GRCh38:
Chr10:72007371
CHST3E114QSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 17, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr10:73767136
GRCh38:
Chr10:72007378
CHST3E116GSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr10:73767137
GRCh38:
Chr10:72007379
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Oct 26, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:73767137
GRCh38:
Chr10:72007379
CHST3E116DSkeletal dysplasia, Larsen syndrome, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr10:73767150-73767151
GRCh38:
Chr10:72007392-72007393
CHST3E122fsSpondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(Jun 27, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:73767157
GRCh38:
Chr10:72007399
CHST3P123LSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr10:73767162-73767163
GRCh38:
Chr10:72007404-72007405
CHST3A127fsSpondyloepiphyseal dysplasia with congenital joint dislocationsPathogenic
(Sep 1, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:73767166
GRCh38:
Chr10:72007408
CHST3P126LSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:73767166
GRCh38:
Chr10:72007408
CHST3P126QSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr10:73767170
GRCh38:
Chr10:72007412
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Jul 4, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr10:73767171
GRCh38:
Chr10:72007413
CHST3V128LSpondyloepiphyseal dysplasia with congenital joint dislocationsLikely benign
(Nov 1, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr10:73767175
GRCh38:
Chr10:72007417
CHST3A129VSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jun 23, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:73767183
GRCh38:
Chr10:72007425
CHST3R132GLarsen syndrome, Skeletal dysplasia, Spondyloepiphyseal dysplasia congenita,
Spondyloepiphyseal dysplasia with congenital joint dislocations
Uncertain significance
(Jul 30, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:73767184
GRCh38:
Chr10:72007426
CHST3R132QSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr10:73767187
GRCh38:
Chr10:72007429
CHST3R133HSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:73767206
GRCh38:
Chr10:72007448
CHST3not specified, Larsen syndrome, Skeletal dysplasia,
Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia with congenital joint dislocations
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
89.
GRCh37:
Chr10:73767211
GRCh38:
Chr10:72007453
CHST3T141MSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:73767212
GRCh38:
Chr10:72007454
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsConflicting interpretations of pathogenicity
(Jul 12, 2021)
criteria provided, conflicting interpretations
91.
GRCh37:
Chr10:73767213
GRCh38:
Chr10:72007455
CHST3R142CSpondyloepiphyseal dysplasia with congenital joint dislocationsLikely pathogenic
(Feb 2, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr10:73767219
GRCh38:
Chr10:72007461
CHST3G144SSpondyloepiphyseal dysplasia with congenital joint dislocationsConflicting interpretations of pathogenicity
(Oct 29, 2021)
criteria provided, conflicting interpretations
93.
GRCh37:
Chr10:73767220
GRCh38:
Chr10:72007462
CHST3G144DSpondyloepiphyseal dysplasia with congenital joint dislocationsLikely pathogeniccriteria provided, single submitter
94.
GRCh37:
Chr10:73767223
GRCh38:
Chr10:72007465
CHST3S145FSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr10:73767231
GRCh38:
Chr10:72007473
CHST3V148LSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(May 3, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:73767234
GRCh38:
Chr10:72007476
CHST3G149SSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jul 15, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:73767236
GRCh38:
Chr10:72007478
CHST3Spondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Nov 10, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr10:73767238
GRCh38:
Chr10:72007480
CHST3E150ASpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:73767255
GRCh38:
Chr10:72007497
CHST3G156SSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr10:73767256
GRCh38:
Chr10:72007498
CHST3G156DSpondyloepiphyseal dysplasia with congenital joint dislocationsUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
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