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Items: 1 to 100 of 1226

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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
2.
GRCh37:
Chr10:81449116-88983530
GRCh38:
Chr10:79689360-87223773
ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC130004257, LOC130004258, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2B, NUTM2B-AS1, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Mar 24, 2014)		no assertion criteria provided
3.
GRCh37:
Chr10:81479185-89118151
GRCh38:
Chr10:79719429-87358394
ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC00863, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC130004257, LOC130004258, LOC130004259, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2A, NUTM2A-AS1, NUTM2B-AS1, NUTM2D, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
GRCh37:
Chr10:81561459-88828018
GRCh38:
Chr10:79802022-87068261
ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2B-AS1, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
5.
GRCh37:
Chr10:81561459-89118151
GRCh38:
Chr10:79802022-87358394
ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC00863, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC130004257, LOC130004258, LOC130004259, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2A, NUTM2A-AS1, NUTM2B-AS1, NUTM2D, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
6.
GRCh37:
Chr10:81640994-88940429
GRCh38:
Chr10:79881238-87180672
ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Dec 10, 2012)		no assertion criteria provided
7.
GRCh37:
Chr10:81640994-88941874
GRCh38:
Chr10:79881238-87182117
SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT, ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
8.
GRCh37:
Chr10:81641918-88828018
GRCh38:
Chr10:79882162-87068261
LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT, ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
9.
GRCh37:
Chr10:81658272-88869584
GRCh38:
Chr10:79898516-87109827
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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT, ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
10.
GRCh37:
Chr10:81658272-89118151
GRCh38:
Chr10:79898516-87358394
ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC00863, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, LOC129390212, 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, LOC130004257, LOC130004258, LOC130004259, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
11.
GRCh37:
Chr10:81658272-88724124
GRCh38:
Chr10:79898516-86964367
ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, GHITM, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, 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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
12.
GRCh37:
Chr10:81685369-88711465
GRCh38:
Chr10:79925613-86951708
LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC121366067, LOC121366068, LOC121366069, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC129390207, LOC129390208, LOC129390209, LOC129390210, LOC129390211, 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, LOC132089867, LOC132089868, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL, WAPL-DT, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, GHITM, GPR15LG, GRID1, GRID1-AS1, LDB3
See casesPathogenic
(Nov 30, 2010)		no assertion criteria provided
13.
GRCh37:
Chr10:86194737-90910559
GRCh38:
Chr10:84434981-89150802
ATAD1, ACTA2, ACTA2-AS1, ADIRF, ADIRF-AS1, AGAP11, ANKRD22, BMPR1A, CCSER2, FAM245A, FAM25A, FAS, FAS-AS1, GLUD1, GRID1, GRID1-AS1, KLLN, LDB3, LINC00863, LINC01519, LINC01520, LINC02647, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOC110121486, LOC111982877, LOC111982878, LOC116216117, LOC121366069, LOC121366070, LOC121366071, LOC121815954, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC124416863, LOC124416864, LOC126860987, LOC126860988, LOC126860989, LOC126860990, LOC126860991, LOC126860992, LOC126860993, LOC129390211, LOC129390212, LOC129390213, 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, LOC130004257, LOC130004258, LOC130004259, LOC130004260, LOC130004261, LOC130004262, LOC130004263, LOC130004264, LOC130004265, LOC130004266, LOC130004267, LOC130004268, LOC130004269, LOC130004270, LOC130004271, LOC130004272, LOC130004273, LOC130004274, LOC130004275, LOC130004276, LOC130004277, LOC130004278, LOC130004279, LOC130004280, LOC130004281, LOC130004282, LOC130004283, LOC130004284, LOC130004285, LOC130004286, LOC130004287, LOC130004288, LOC130004289, LOC130004290, LOC130004291, LOC130004292, LOC130004293, LOC130004294, LOC130004295, LOC130004296, LOC132089869, LOC132089870, LOC132089871, LOC132089872, LOC132089873, LOC132089874, LOC132089875, LOC132089876, LOC132090824, MINPP1, MIR346, MIR4678, MIR4679-1, MIR4679-2, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PAPSS2, PTEN, RNLS, SHLD2, SNCG, STAMBPL1, WAPL, WAPL-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
14.
GRCh37:
Chr10:88426594
GRCh38:
Chr10:86666837
LDB3not providedLikely benign
(Sep 1, 2023)		criteria provided, single submitter
15.
GRCh37:
Chr10:88428036
GRCh38:
Chr10:86668279
LDB3not providedLikely benign
(Jun 14, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr10:88428047
GRCh38:
Chr10:86668290
LDB3not providedBenign
(Jun 19, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr10:88428076
GRCh38:
Chr10:86668319
LDB3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr10:88428158
GRCh38:
Chr10:86668401
LDB3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr10:88428167
GRCh38:
Chr10:86668410
LDB3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr10:88428302
GRCh38:
Chr10:86668545
LDB3not specifiedBenign
(Apr 13, 2015)		criteria provided, single submitter
21.
GRCh37:
Chr10:88428303
GRCh38:
Chr10:86668546
LDB3not specifiedLikely benign
(Apr 6, 2017)		criteria provided, single submitter
22.
GRCh37:
Chr10:88428303
GRCh38:
Chr10:86668546
LDB3not specifiedBenign
(Aug 8, 2011)		criteria provided, single submitter
23.
GRCh37:
Chr10:88428315
GRCh38:
Chr10:86668558
LDB3not specifiedBenign
(Aug 2, 2012)		criteria provided, single submitter
24.
GRCh37:
Chr10:88428321-88459810
GRCh38:
Chr10:86668564-86700053
LDB3, LOC110121486, LOC130004243, LOC132089876Myofibrillar myopathy 4Uncertain significance
(Nov 29, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr10:88428332
GRCh38:
Chr10:86668575
LDB3not providedUncertain significance
(Aug 20, 2019)		criteria provided, single submitter
26.
GRCh37:
Chr10:88428335
GRCh38:
Chr10:86668578
LDB3Myofibrillar Myopathy, Dominant, not specified, Dilated cardiomyopathy 1C,
Myofibrillar myopathy 4, Left ventricular noncompaction cardiomyopathy		Benign/Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr10:88428345
GRCh38:
Chr10:86668588
LDB3not specifiedLikely benign
(Jul 8, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr10:88428368
GRCh38:
Chr10:86668611
LDB3Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 4, Dilated cardiomyopathy 1C,
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1C, Myofibrillar myopathy 4
Uncertain significance
(Sep 27, 2021)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:88428394
GRCh38:
Chr10:86668637
LDB3Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 4, Dilated Cardiomyopathy, Dominant,
not provided, Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(Jan 1, 2023)		criteria provided, conflicting interpretations
30.
GRCh37:
Chr10:88428406
GRCh38:
Chr10:86668649
LDB3, LOC130004243not providedLikely benign
(Dec 3, 2018)		criteria provided, single submitter
31.
GRCh37:
Chr10:88428429
GRCh38:
Chr10:86668672
LDB3, LOC130004243Myofibrillar myopathy 4, Dilated cardiomyopathy 1C, Dilated cardiomyopathy 1C
Uncertain significance
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:88428429-88469827
GRCh38:
Chr10:86668672-86710070
LDB3, LOC110121486, LOC130004243, LOC132089876Myofibrillar myopathy 4Uncertain significance
(Dec 14, 2017)		criteria provided, single submitter
33.
GRCh37:
Chr10:88428430
GRCh38:
Chr10:86668673
LDB3, LOC130004243not specifiedLikely benign
(Apr 22, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr10:88428431
GRCh38:
Chr10:86668674
LDB3, LOC130004243not specifiedLikely benign
(Sep 6, 2016)		criteria provided, single submitter
35.
GRCh37:
Chr10:88428433
GRCh38:
Chr10:86668676
LDB3, LOC130004243not specifiedBenign
(Feb 20, 2023)		criteria provided, single submitter
36.
GRCh37:
Chr10:88428434
GRCh38:
Chr10:86668677
LDB3, LOC130004243not specified, not providedConflicting interpretations of pathogenicity
(May 20, 2015)		criteria provided, conflicting interpretations
37.
GRCh37:
Chr10:88428446
GRCh38:
Chr10:86668689
LDB3, LOC130004243Cardiovascular phenotypeUncertain significance
(Oct 18, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr10:88428447
GRCh38:
Chr10:86668690
LDB3, LOC130004243not providedUncertain significance
(Feb 6, 2021)		criteria provided, single submitter
39.
GRCh37:
Chr10:88428448
GRCh38:
Chr10:86668691
LDB3, LOC130004243CardiomyopathyUncertain significance
(Aug 1, 2017)		criteria provided, single submitter
40.
GRCh37:
Chr10:88428452
GRCh38:
Chr10:86668695
LDB3S2TMyofibrillar myopathy 4Uncertain significance
(Feb 3, 2022)		criteria provided, single submitter
41.
GRCh37:
Chr10:88428453
GRCh38:
Chr10:86668696
LDB3S2YCardiomyopathyUncertain significance
(Jun 29, 2016)		criteria provided, single submitter
42.
GRCh37:
Chr10:88428458
GRCh38:
Chr10:86668701
LDB3S4Rnot specifiedUncertain significance
(Oct 6, 2014)		criteria provided, single submitter
43.
GRCh37:
Chr10:88428459
GRCh38:
Chr10:86668702
LDB3S4NMyofibrillar myopathy 4, not providedConflicting interpretations of pathogenicity
(Dec 20, 2021)		criteria provided, conflicting interpretations
44.
GRCh37:
Chr10:88428460
GRCh38:
Chr10:86668703
LDB3Myofibrillar myopathy 4Likely benign
(Jan 11, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr10:88428461-88428462
GRCh38:
Chr10:86668704-86668705
LDB3Myofibrillar myopathy 4, Cardiovascular phenotypeUncertain significance
(Feb 10, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr10:88428461
GRCh38:
Chr10:86668704
LDB3V5MMyofibrillar myopathy 4, Dilated cardiomyopathy 1C, Myofibrillar myopathy 4,
not provided, Cardiovascular phenotype		Uncertain significance
(Mar 18, 2023)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:88428469
GRCh38:
Chr10:86668712
LDB3Myofibrillar myopathy 4Likely benign
(Aug 13, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr10:88428471
GRCh38:
Chr10:86668714
LDB3T8NMyofibrillar myopathy 4Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
49.
GRCh37:
Chr10:88428474
GRCh38:
Chr10:86668717
LDB3G9VCardiovascular phenotypeUncertain significance
(May 28, 2019)		criteria provided, single submitter
50.
GRCh37:
Chr10:88428478
GRCh38:
Chr10:86668721
LDB3Cardiovascular phenotype, Myofibrillar myopathy 4Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr10:88428478
GRCh38:
Chr10:86668721
LDB3Myofibrillar Myopathy, Dominant, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1C,
Myofibrillar myopathy 4		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
52.
GRCh37:
Chr10:88428479
GRCh38:
Chr10:86668722
LDB3G11RMyofibrillar myopathy 4Uncertain significance
(Oct 27, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr10:88428484
GRCh38:
Chr10:86668727
LDB3CardiomyopathyUncertain significance
(Nov 24, 2015)		criteria provided, single submitter
54.
GRCh37:
Chr10:88428494
GRCh38:
Chr10:86668737
LDB3R16CMyofibrillar myopathy 4Uncertain significance
(Sep 1, 2022)		criteria provided, single submitter
55.
GRCh37:
Chr10:88428495
GRCh38:
Chr10:86668738
LDB3R16HMyofibrillar myopathy 4, Cardiovascular phenotypeUncertain significance
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:88428498
GRCh38:
Chr10:86668741
LDB3L17PMyofibrillar myopathy 4Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr10:88428499
GRCh38:
Chr10:86668742
LDB3Myofibrillar myopathy 4Likely benign
(Dec 21, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr10:88428502
GRCh38:
Chr10:86668745
LDB3Cardiovascular phenotypeLikely benign
(Mar 18, 2021)		criteria provided, single submitter
59.
GRCh37:
Chr10:88428502
GRCh38:
Chr10:86668745
LDB3G20fsnot providedUncertain significanceno assertion criteria provided
60.
GRCh37:
Chr10:88428502
GRCh38:
Chr10:86668745
LDB3Q18HDilated cardiomyopathy 1C, Myofibrillar myopathy 4, Primary familial dilated cardiomyopathy,
not provided, Cardiomyopathy, Myofibrillar myopathy 4
Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:88428503
GRCh38:
Chr10:86668746
LDB3G19RCardiovascular phenotype, Myofibrillar myopathy 4, Dilated cardiomyopathy 1C,
Myofibrillar myopathy 4		Uncertain significance
(Jun 3, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:88428503
GRCh38:
Chr10:86668746
LDB3G19Rnot provided, Myofibrillar myopathy 4Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:88428503
GRCh38:
Chr10:86668746
LDB3G19WMyofibrillar myopathy 4Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
64.
GRCh37:
Chr10:88428504
GRCh38:
Chr10:86668747
LDB3G19Anot provided, Myofibrillar myopathy 4Uncertain significance
(Nov 28, 2021)		criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:88428504
GRCh38:
Chr10:86668747
LDB3G19EMyofibrillar myopathy 4Uncertain significance
(Nov 1, 2022)		criteria provided, single submitter
66.
GRCh37:
Chr10:88428507
GRCh38:
Chr10:86668750
LDB3G20DMyofibrillar myopathy 4Uncertain significance
(Oct 20, 2021)		criteria provided, single submitter
67.
GRCh37:
Chr10:88428514
GRCh38:
Chr10:86668757
LDB3D22Enot provided, Primary familial hypertrophic cardiomyopathyUncertain significance
(May 1, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:88428520
GRCh38:
Chr10:86668763
LDB3N24Knot provided, Cardiovascular phenotype, Myofibrillar myopathy 4
Uncertain significance
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:88428522
GRCh38:
Chr10:86668765
LDB3M25TMyofibrillar myopathy 4Uncertain significance
(Jun 7, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr10:88428524
GRCh38:
Chr10:86668767
LDB3P26SMyofibrillar myopathy 4, not providedUncertain significance
(Jan 25, 2023)		criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr10:88428527
GRCh38:
Chr10:86668770
LDB3L27Fnot providedUncertain significance
(Sep 19, 2017)		criteria provided, single submitter
72.
GRCh37:
Chr10:88428528
GRCh38:
Chr10:86668771
LDB3L27Pnot specified, Myofibrillar myopathy 4Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr10:88428529
GRCh38:
Chr10:86668772
LDB3Cardiovascular phenotypeLikely benign
(Jun 20, 2018)		criteria provided, single submitter
74.
GRCh37:
Chr10:88428529
GRCh38:
Chr10:86668772
LDB3not specifiedLikely benign
(Aug 28, 2019)		criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr10:88428537
GRCh38:
Chr10:86668780
LDB3S30CMyofibrillar myopathy 4Uncertain significance
(Jun 9, 2022)		criteria provided, single submitter
76.
GRCh37:
Chr10:88428537
GRCh38:
Chr10:86668780
LDB3S30YMyofibrillar myopathy 4Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
77.
GRCh37:
Chr10:88428539
GRCh38:
Chr10:86668782
LDB3R31GMyofibrillar myopathy 4Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
78.
GRCh37:
Chr10:88428539
GRCh38:
Chr10:86668782
LDB3R31Wnot specified, not provided, Primary dilated cardiomyopathy,
Myofibrillar myopathy 4, Hypertrophic cardiomyopathy		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr10:88428540
GRCh38:
Chr10:86668783
LDB3R31QMyofibrillar myopathy 4Uncertain significance
(Sep 28, 2018)		criteria provided, single submitter
80.
GRCh37:
Chr10:88428541
GRCh38:
Chr10:86668784
LDB3Myofibrillar myopathy 4Uncertain significance
(Feb 21, 2022)		criteria provided, single submitter
81.
GRCh37:
Chr10:88428542
GRCh38:
Chr10:86668785
LDB3not specifiedUncertain significance
(May 1, 2014)		criteria provided, single submitter
82.
GRCh37:
Chr10:88428548
GRCh38:
Chr10:86668791
LDB3not specifiedLikely benign
(Nov 7, 2008)		criteria provided, single submitter
83.
GRCh37:
Chr10:88428551
GRCh38:
Chr10:86668794
LDB3not specifiedLikely benign
(Nov 17, 2017)		criteria provided, single submitter
84.
GRCh37:
Chr10:88428553
GRCh38:
Chr10:86668796
LDB3not provided, Myofibrillar myopathy 4Likely benign
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr10:88428558
GRCh38:
Chr10:86668801
LDB3Myofibrillar myopathy 4Likely benign
(Jun 27, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr10:88428559
GRCh38:
Chr10:86668802
LDB3Myofibrillar myopathy 4Likely benign
(Mar 16, 2022)		criteria provided, single submitter
87.
GRCh37:
Chr10:88428706
GRCh38:
Chr10:86668949
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr10:88428718
GRCh38:
Chr10:86668961
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
89.
GRCh37:
Chr10:88428793-88428794
GRCh38:
Chr10:86669036-86669037
LDB3not providedBenign
(Nov 14, 2019)		criteria provided, single submitter
90.
GRCh37:
Chr10:88428810-88428811
GRCh38:
Chr10:86669053-86669054
LDB3not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr10:88438830
GRCh38:
Chr10:86679073
LDB3not providedBenign
(Jun 16, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr10:88439000
GRCh38:
Chr10:86679243
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr10:88439005
GRCh38:
Chr10:86679248
LDB3not providedLikely benign
(Jun 19, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr10:88439005
GRCh38:
Chr10:86679248
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
95.
GRCh37:
Chr10:88439104
GRCh38:
Chr10:86679347
LDB3Myofibrillar myopathy 4Likely benign
(Oct 29, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr10:88439107
GRCh38:
Chr10:86679350
LDB3Myofibrillar myopathy 4Likely benign
(Jun 11, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr10:88439110
GRCh38:
Chr10:86679353
LDB3Myofibrillar myopathy 4Likely benign
(Jul 13, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr10:88439115
GRCh38:
Chr10:86679358
LDB3Myofibrillar myopathy 4Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
99.
GRCh37:
Chr10:88439123
GRCh38:
Chr10:86679366
LDB3not specifiedUncertain significance
(Oct 18, 2023)		criteria provided, single submitter
100.
GRCh37:
Chr10:88439128-88439129
GRCh38:
Chr10:86679371-86679372
LDB3P34fsMyofibrillar myopathy 4Uncertain significance
(Sep 20, 2017)		criteria provided, single submitter
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