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Items: 28

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:47162048-49553707
GRCh38:
Chr19:46658791-49050450
AP2S1, ARHGAP35, BAX, BBC3, BCAT2, BICRA, BICRA-AS2, BSPH1, C5AR1, C5AR2, CA11, CABP5, CARD8, CARD8-AS1, CCDC9, CGB1, CGB2, CGB3, CGB5, CGB8, CRX, CYTH2, DACT3, DACT3-AS1, DBP, DHDH, DHX34, EHD2, ELSPBP1, EMP3, FAM83E, FGF21, FKRP, FTL, FUT1, FUT2, GRIN2D, GRWD1, GYS1, HSD17B14, INAFM1, IZUMO1, KCNJ14, KDELR1, KPTN, LHB, LIG1, LINC01595, LMTK3, LOC105372430, LOC105447645, LOC109279247, LOC111721713, LOC111828494, LOC112552162, LOC112552164, LOC112552165, LOC112552166, LOC112552167, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC116286190, LOC116286191, LOC116286192, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627882, LOC121627883, LOC121627884, LOC121627885, LOC121852990, LOC121852991, LOC125371536, LOC125371537, LOC125371538, LOC125371539, LOC125371540, LOC125371542, LOC125371543, LOC125371544, LOC126862917, LOC126862918, LOC126862919, LOC126862920, LOC129391129, LOC129391130, LOC129391131, LOC129391132, LOC130064768, LOC130064769, LOC130064770, LOC130064771, LOC130064772, LOC130064773, LOC130064774, LOC130064775, LOC130064776, LOC130064777, LOC130064778, LOC130064779, LOC130064780, LOC130064781, LOC130064782, LOC130064783, LOC130064784, LOC130064785, LOC130064786, LOC130064787, LOC130064788, LOC130064789, LOC130064790, LOC130064791, LOC130064792, LOC130064793, LOC130064794, LOC130064795, LOC130064796, LOC130064797, LOC130064798, LOC130064799, LOC130064800, LOC130064801, LOC130064802, LOC130064803, LOC130064804, LOC130064805, LOC130064806, LOC130064807, LOC130064808, LOC130064809, LOC130064810, LOC130064811, LOC130064812, LOC130064813, LOC130064814, LOC130064815, LOC130064816, LOC130064817, LOC130064818, LOC130064819, LOC130064820, LOC130064821, LOC130064822, LOC130064823, LOC130064824, LOC130064825, LOC130064826, LOC130064827, LOC130064828, LOC130064829, LOC130064830, LOC130064831, LOC130064832, LOC130064833, LOC130064834, LOC130064835, LOC130064836, LOC130064837, LOC130064838, LOC130064839, LOC130064840, LOC130064841, LOC130064842, LOC130064843, LOC130064844, LOC130064845, LOC130064846, LOC130064847, LOC130064848, LOC130064849, LOC130064850, LOC130064851, LOC130064852, LOC130064853, LOC130064854, LOC130064855, LOC130064856, LOC130064857, LOC130064858, LOC130064859, LOC130064860, LOC130064861, LOC130064862, LOC130064863, LOC130064864, LOC130064865, LOC130064866, LOC130064867, LOC130064868, LOC130064869, LOC130064870, LOC130064871, LOC130064872, LOC130064873, LOC130064874, LOC130064875, LOC130064876, LOC130064877, LOC130064878, LOC130064879, LOC130064880, LOC130064881, LOC130064882, LOC130064883, LOC130064884, LOC130064885, LOC130064886, LOC130064887, LOC130064888, LOC130064889, LOC130064890, LOC130064891, LOC130064892, LOC130064893, LOC130064894, LOC130064895, LOC130064896, LOC130064897, LOC130064898, MAMSTR, MEIS3, MIR3190, MIR3191, MIR320E, MIR6798, NAPA, NAPA-AS1, NOP53, NOP53-AS1, NPAS1, NTN5, NUCB1, NUCB1-AS1, ODAD1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PPP1R15A, PRKD2, RASIP1, RPL18, RUVBL2, SAE1, SAXO3, SELENOW, SLC1A5, SLC8A2, SNAR-A1, SNAR-A12, SNAR-A13, SNAR-A2, SNAR-A3, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-E, SNAR-G1, SNAR-G2, SNORD23, SPACA4, SPHK2, STRN4, SULT2A1, SULT2B1, SYNGR4, TMEM143, TMEM160, TPRX1, TPRX2, TULP2, ZC3H4, ZNF114, ZNF541, ZSWIM9
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr19:48411797-59051332
GRCh38:
Chr19:47908540-58539965
ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF114, ZNF132, ZNF132-DT, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF175, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF350, ZNF350-AS1, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF432, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, ZNF480, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF528, ZNF528-AS1, ZNF530, ZNF534, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF584-DT, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF606-AS1, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF628, ZNF649, ZNF649-AS1, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF766, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF865, ZNF880, ZNF888, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C, ZSWIM9, LOC130064955, LOC130064956, LOC130064957, LOC130064958, LOC130064959, LOC130064960, LOC130064961, LOC130064962, LOC130064963, LOC130064964, LOC130064965, LOC130064966, LOC130064967, LOC130064968, LOC130064969, LOC130064970, LOC130064971, LOC130064972, LOC130064973, LOC130064974, LOC130064975, LOC130064976, LOC130064977, LOC130064978, LOC130064979, LOC130064980, LOC130064981, LOC130064982, LOC130064983, LOC130064984, LOC130064985, LOC130064986, LOC130064987, LOC130064988, LOC130064989, LOC130064990, LOC130064991, LOC130064992, LOC130064993, LOC130064994, LOC130064995, LOC130064996, LOC130064997, LOC130064998, LOC130064999, LOC130065000, LOC130065001, LOC130065002, LOC130065003, LOC130065004, LOC130065005, LOC130065006, LOC130065007, LOC130065008, LOC130065009, LOC130065010, LOC130065011, LOC130065012, LOC130065013, LOC130065014, LOC130065015, LOC130065016, LOC130065017, LOC130065018, LOC130065019, LOC130065020, LOC130065021, LOC130065022, LOC130065023, LOC130065024, LOC130065025, LOC130065026, LOC130065027, LOC130065028, LOC130065029, LOC130065030, LOC130065031, LOC130065032, LOC130065033, LOC130065034, LOC130065035, LOC130065036, LOC130065037, LOC130065038, LOC130065039, LOC130065040, LOC130065041, LOC130065042, LOC130065043, LOC130065044, LOC130065045, LOC130065046, LOC130065047, LOC130065048, LOC130065049, LOC130065050, LOC130065051, LOC130065052, LOC130065053, LOC130065054, LOC130065055, LOC130065056, LOC130065057, LOC130065058, LOC130065059, LOC130065060, LOC130065061, LOC130065062, LOC130065063, LOC130065064, LOC130065065, LOC130065066, LOC130065067, LOC130065068, LOC130065069, LOC130065070, LOC130065071, LOC130065072, LOC130065073, LOC130065074, LOC130065075, LOC130065076, LOC130065077, LOC130065078, LOC130065079, LOC130065080, LOC130065081, LOC130065082, LOC130065083, LOC130065084, LOC130065085, LOC130065086, LOC130065087, LOC130065088, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, LOC130065098, LOC130065099, LOC130065100, LOC130065101, LOC130065102, LOC130065103, LOC130065104, LOC130065105, LOC130065106, LOC130065107, LOC130065108, LOC130065109, LOC130065110, LOC130065111, LOC130065112, LOC130065113, LOC130065114, LOC130065115, LOC130065116, LOC130065117, LOC130065118, LOC130065119, LOC130065120, LOC130065121, LOC130065122, LOC130065123, LOC130065124, LOC130065125, LOC130065126, LOC130065127, LOC130065128, LOC130065129, LOC130065130, LOC130065131, LOC130065132, LOC130065133, LOC130065134, LOC130065135, LOC130065136, LOC130065137, LOC130065138, LOC130065139, LOC130065140, LOC130065141, LOC130065142, LOC130065143, LOC130065144, LOC130065145, LOC130065146, LOC130065147, LOC130065148, LOC130065149, LOC130065150, LOC130065151, LOC130065152, LOC130065153, LOC130065154, LOC130065155, LOC130065156, LOC130065157, LOC130065158, LOC130065159, LOC130065160, LOC130065161, LOC130065162, LOC130065163, LOC130065164, LOC130065165, LOC130065166, LOC130065167, LOC130065168, LOC130065169, LOC130065170, LOC130065171, LOC130065172, LOC130065173, LOC130065174, LOC130065175, LOC130065176, LOC130065177, LOC130065178, LOC130065179, LOC130065180, LOC130065181, LOC130065182, LOC130065183, LOC130065184, LOC130065185, LOC130065186, LOC130065187, LOC130065188, LOC130065189, LOC130065190, LOC130065191, LOC130065192, LOC130065193, LOC130065194, LOC130065195, LOC130065196, LOC130065197, LOC130065198, LOC130065199, LOC130065200, LOC130065201, LOC130065202, LOC130065203, LOC130065204, LOC130065205, LOC130065206, LOC130065207, LOC130065208, LOC130065209, LOC130065210, LOC130065211, LOC130065212, LOC130065213, LOC130065214, LOC130065215, LOC130065216, LOC130065217, LOC130065218, LOC130065219, LOC130065220, LOC130065221, LOC130065222, LOC130065223, LOC130065224, LOC130065225, LOC130065226, LOC130065227, LOC130065228, LOC130065229, LOC130065230, LOC130065231, LOC130065232, LOC130065233, LOC130065234, LOC130065235, LOC132090551, LOC132090554, LOC132090557, LOC132090558, LOC132090559, LOC132090560, LRRC4B, MAMSTR, MBOAT7, MED25, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR150, MIR371A, MIR371B, MIR372, MIR373, MIR4324, MIR4749, MIR4750, MIR4751, MIR4752, MIR4754, MIR498, MIR5088, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR643, MIR6798, MIR6799, MIR6800, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, MYREM, NAPSA, NAT14, NKG7, NCR1, NDUFA3, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUCB1-AS1, NUP62, ODAD1, OSCAR, PEG3, PEG3-AS1, PIH1D1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRKCG, PRMT1, PTH2, PRPF31, PRPF31-AS1, PRR12, PRRG2, PTOV1, PTOV1-AS1, PTOV1-AS2, PTPRH, RASIP1, RCN3, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL13A, RPL18, RPL28, RPS11, RPS5, RPS9, RRAS, RUVBL2, SAXO3, SBK2, SBK3, SCAF1, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC27A5, SLC6A16, SMIM17, SMIM47, SNAR-A1, SNAR-A10, SNAR-A11, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A3, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C2, SNAR-C3, SNAR-C4, SNAR-C5, SNAR-D, SNAR-F, SNAR-G1, SNAR-G2, SNORD157, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPACA6, SPACA6-AS1, SPHK2, SPIB, SSC5D, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TFPT, TMC4, TMEM143, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSIG10L-AS1, VSTM1, A1BG, A1BG-AS1, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, AURKC, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf18, C19orf73, C19orf81, C19orf84, C19orf85, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CARD8-AS1, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CNOT3, COX6B2, CPT1C, CTU1, CYTH2, DBP, DHDH, DKKL1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FAM83E, FPR1, FCAR, FCGRT, FGF21, FIZ1, FLT3LG, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GARIN5B, GFY, GP6, GPR32, GRIN2D, GRWD1, GYS1, HAS1, HRC, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG8-AS1, LENG9, LHB, LIG1, LILRA1, LILRA2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIM2-AS1, LIN7B, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LMTK3, LOC101928295, LOC101928517, LOC105372430, LOC105372435, LOC105372441, LOC105372480, LOC105447645, LOC106128905, LOC106128906, LOC101928804, LOC107198088, LOC107198089, LOC107983998, LOC109279247, LOC111721713, LOC111811967, LOC111828494, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286192, LOC116286193, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627884, LOC121627885, LOC121627886, LOC121627887, LOC121627888, LOC121627889, LOC121852991, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LOC125371542, LOC125371543, LOC125371544, LOC125384522, LOC125384524, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862920, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LOC129391131, LOC129391132, LOC129391133, LOC129391134, LOC129391135, LOC129391136, LOC129391137, LOC129391138, LOC129391139, LOC129391140, LOC129391141, LOC129391142, LOC129391143, LOC129391144, LOC129391145, LOC129391146, LOC130064832, LOC130064833, LOC130064834, LOC130064835, LOC130064836, LOC130064837, LOC130064838, LOC130064839, LOC130064840, LOC130064841, LOC130064842, LOC130064843, LOC130064844, LOC130064845, LOC130064846, LOC130064847, LOC130064848, LOC130064849, LOC130064850, LOC130064851, LOC130064852, LOC130064853, LOC130064854, LOC130064855, LOC130064856, LOC130064857, LOC130064858, LOC130064859, LOC130064860, LOC130064861, LOC130064862, LOC130064863, LOC130064864, LOC130064865, LOC130064866, LOC130064867, LOC130064868, LOC130064869, LOC130064870, LOC130064871, LOC130064872, LOC130064873, LOC130064874, LOC130064875, LOC130064876, LOC130064877, LOC130064878, LOC130064879, LOC130064880, LOC130064881, LOC130064882, LOC130064883, LOC130064884, LOC130064885, LOC130064886, LOC130064887, LOC130064888, LOC130064889, LOC130064890, LOC130064891, LOC130064892, LOC130064893, LOC130064894, LOC130064895, LOC130064896, LOC130064897, LOC130064898, LOC130064899, LOC130064900, LOC130064901, LOC130064902, LOC130064903, LOC130064904, LOC130064905, LOC130064906, LOC130064907, LOC130064908, LOC130064909, LOC130064910, LOC130064911, LOC130064912, LOC130064913, LOC130064914, LOC130064915, LOC130064916, LOC130064917, LOC130064918, LOC130064919, LOC130064920, LOC130064921, LOC130064922, LOC130064923, LOC130064924, LOC130064925, LOC130064926, LOC130064927, LOC130064928, LOC130064929, LOC130064930, LOC130064931, LOC130064932, LOC130064933, LOC130064934, LOC130064935, LOC130064936, LOC130064937, LOC130064938, LOC130064939, LOC130064940, LOC130064941, LOC130064942, LOC130064943, LOC130064944, LOC130064945, LOC130064946, LOC130064947, LOC130064948, LOC130064949, LOC130064950, LOC130064951, LOC130064952, LOC130064953, LOC130064954
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr19:48432832-59083573
GRCh38:
Chr19:47929575-58572206
LOC130064933, LOC130064934, LOC130064935, LOC130064936, LOC130064937, LOC130064938, LOC130064939, LOC130064940, LOC130064941, LOC130064942, LOC130064943, LOC130064944, LOC130064945, LOC130064946, LOC130064947, LOC130064948, LOC130064949, LOC130064950, LOC130064951, LOC130064952, LOC130064953, LOC130064954, LOC130064955, LOC130064956, LOC130064957, LOC130064958, LOC130064959, LOC130064960, LOC130064961, LOC130064962, LOC130064963, LOC130064964, LOC130064965, LOC130064966, LOC130064967, LOC130064968, LOC130064969, LOC130064970, LOC130064971, LOC130064972, LOC130064973, LOC130064974, LOC130064975, LOC130064976, LOC130064977, LOC130064978, LOC130064979, LOC130064980, LOC130064981, LOC130064982, LOC130064983, LOC130064984, LOC130064985, LOC130064986, LOC130064987, LOC130064988, LOC130064989, LOC130064990, LOC130064991, LOC130064992, LOC130064993, LOC130064994, LOC130064995, LOC130064996, LOC130064997, LOC130064998, LOC130064999, LOC130065000, LOC130065001, LOC130065002, LOC130065003, LOC130065004, LOC130065005, LOC130065006, LOC130065007, LOC130065008, LOC130065009, LOC130065010, LOC130065011, LOC130065012, LOC130065013, LOC130065014, LOC130065015, LOC130065016, LOC130065017, LOC130065018, LOC130065019, LOC130065020, LOC130065021, LOC130065022, LOC130065023, LOC130065024, LOC130065025, LOC130065026, LOC130065027, LOC130065028, LOC130065029, LOC130065030, LOC130065031, LOC130065032, LOC130065033, LOC130065034, LOC130065035, LOC130065036, LOC130065037, LOC130065038, LOC130065039, LOC130065040, LOC130065041, LOC130065042, LOC130065043, LOC130065044, LOC130065045, LOC130065046, LOC130065047, LOC130065048, LOC130065049, LOC130065050, LOC130065051, LOC130065052, LOC130065053, LOC130065054, LOC130065055, LOC130065056, LOC130065057, LOC130065058, LOC130065059, LOC130065060, LOC130065061, LOC130065062, LOC130065063, LOC130065064, LOC130065065, LOC130065066, LOC130065067, LOC130065068, LOC130065069, LOC130065070, LOC130065071, LOC130065072, LOC130065073, LOC130065074, LOC130065075, LOC130065076, LOC130065077, LOC130065078, LOC130065079, LOC130065080, LOC130065081, LOC130065082, LOC130065083, LOC130065084, LOC130065085, LOC130065086, LOC130065087, LOC130065088, LOC130065089, LOC130065090, LOC130065091, LOC130065092, LOC130065093, LOC130065094, LOC130065095, LOC130065096, LOC130065097, LOC130065098, LOC130065099, LOC130065100, LOC130065101, LOC130065102, LOC130065103, LOC130065104, LOC130065105, LOC130065106, LOC130065107, LOC130065108, LOC130065109, LOC130065110, LOC130065111, LOC130065112, LOC130065113, LOC130065114, LOC130065115, LOC130065116, LOC130065117, LOC130065118, LOC130065119, LOC130065120, LOC130065121, LOC130065122, LOC130065123, LOC130065124, LOC130065125, LOC130065126, LOC130065127, LOC130065128, LOC130065129, LOC130065130, LOC130065131, LOC130065132, LOC130065133, LOC130065134, LOC130065135, LOC130065136, LOC130065137, LOC130065138, LOC130065139, LOC130065140, LOC130065141, LOC130065142, LOC130065143, LOC130065144, LOC130065145, LOC130065146, LOC130065147, LOC130065148, LOC130065149, LOC130065150, LOC130065151, LOC130065152, LOC130065153, LOC130065154, LOC130065155, LOC130065156, LOC130065157, LOC130065158, LOC130065159, LOC130065160, LOC130065161, LOC130065162, LOC130065163, LOC130065164, LOC130065165, LOC130065166, LOC130065167, LOC130065168, LOC130065169, LOC130065170, LOC130065171, LOC130065172, LOC130065173, LOC130065174, LOC130065175, LOC130065176, LOC130065177, LOC130065178, LOC130065179, LOC130065180, LOC130065181, LOC130065182, LOC130065183, LOC130065184, LOC130065185, LOC130065186, LOC130065187, LOC130065188, LOC130065189, LOC130065190, LOC130065191, LOC130065192, LOC130065193, LOC130065194, LOC130065195, LOC130065196, LOC130065197, LOC130065198, LOC130065199, LOC130065200, LOC130065201, LOC130065202, LOC130065203, LOC130065204, LOC130065205, LOC130065206, LOC130065207, LOC130065208, LOC130065209, LOC130065210, LOC130065211, LOC130065212, LOC130065213, LOC130065214, LOC130065215, LOC130065216, LOC130065217, LOC130065218, LOC130065219, LOC130065220, LOC130065221, LOC130065222, LOC130065223, LOC130065224, LOC130065225, LOC130065226, LOC130065227, LOC130065228, LOC130065229, LOC130065230, LOC130065231, LOC130065232, LOC130065233, LOC130065234, LOC130065235, LOC130065236, LOC130065237, LOC130065238, LOC130065239, LOC130065240, LOC130065241, LOC130065242, LOC130065243, LOC130065244, LOC130065245, LOC132090551, LOC132090554, LOC132090557, LOC132090558, LOC132090559, LOC132090560, LRRC4B, MAMSTR, MBOAT7, MED25, MIMT1, MIR10394, MIR125A, MIR1283-1, MIR1283-2, MIR1323, MIR150, MIR371A, MIR371B, MIR372, MIR373, MIR4324, MIR4749, MIR4750, MIR4751, MIR4752, MIR4754, MIR498, MIR5088, MIR512-1, MIR512-2, MIR515-1, MIR515-2, MIR516A1, MIR516A2, MIR516B1, MIR516B2, MIR517A, MIR517B, MIR517C, MIR518A1, MIR518A2, MIR518B, MIR518C, MIR518D, MIR518E, MIR518F, MIR519A1, MIR519A2, MIR519B, MIR519C, MIR519D, MIR519E, MIR520A, MIR520B, MIR520C, MIR520D, MIR520E, MIR520F, MIR520G, MIR520H, MIR521-1, MIR521-2, MIR522, MIR523, MIR524, MIR525, MIR526A1, MIR526A2, MIR526B, MIR527, MIR643, MIR6798, MIR6799, MIR6800, MIR6801, MIR6802, MIR6803, MIR6804, MIR6805, MIR6806, MIR6807, MIR7975, MIR8061, MIR8074, MIR935, MIR99B, MIRLET7E, MYADM, MYADM-AS1, MYBPC2, MYH14, MYREM, MZF1, MZF1-AS1, NAPSA, NAT14, NCR1, NDUFA3, NKG7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NTF4, NTN5, NUCB1, NUCB1-AS1, NUP62, ODAD1, OSCAR, PEG3, PEG3-AS1, PIH1D1, PLA2G4C, PLA2G4C-AS1, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRKCG, PRMT1, PRPF31, PRPF31-AS1, PRR12, PRRG2, PTH2, PTOV1, PTOV1-AS1, PTOV1-AS2, PTPRH, RASIP1, RCN3, RDH13, RFPL4A, RFPL4AL1, RNF225, RPL13A, RPL18, RPL28, RPS11, RPS5, RPS9, RRAS, RUVBL2, SAXO3, SBK2, SBK3, SCAF1, SHANK1, SHISA7, SIGLEC10, SIGLEC10-AS1, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC16, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SLC17A7, SLC27A5, SLC6A16, SMIM17, SMIM47, SNAR-A10, SNAR-A11, SNAR-A13, SNAR-A14, SNAR-A2, SNAR-A4, SNAR-A5, SNAR-A6, SNAR-A7, SNAR-A8, SNAR-A9, SNAR-B1, SNAR-B2, SNAR-C1, SNAR-C3, SNAR-C4, SNAR-D, SNAR-F, SNAR-G1, SNAR-G2, SNORD157, SNORD32A, SNORD33, SNORD34, SNORD35A, SNORD35B, SNORD88A, SNORD88B, SNORD88C, SNRNP70, SPACA4, SPACA6, SPACA6-AS1, SPHK2, SPIB, SSC5D, A1BG, A1BG-AS1, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, AURKC, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf18, C19orf73, C19orf81, C19orf84, C19orf85, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CARD8-AS1, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHMP2A, CLDND2, CLEC11A, CYTH2, DBP, CNOT3, COX6B2, CPT1C, CTU1, DHDH, DKKL1, DNAAF3, DNAAF3-AS1, DPRX, DUXA, EDDM13, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVFRD-2, ERVK3-1, ERVV-1, ERVV-2, ETFB, FAM83E, FCAR, FCGRT, FGF21, FIZ1, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GARIN5B, GFY, HAS1, GP6, GPR32, GRIN2D, GRWD1, GYS1, HRC, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LHB, LENG1, LENG8, LENG8-AS1, LENG9, LIG1, LILRA1, LILRA2, LILRA4, LILRB3, LILRA5, LILRA6, LILRB1, LILRB2, LILRB4, LILRB5, LIM2, LIM2-AS1, LIN7B, LINC01530, LINC01864, LINC01869, LINC01872, LINC02560, LMTK3, LOC101928295, LOC101928517, LOC105372430, LOC105372435, LOC105372441, LOC105372480, LOC105447645, LOC106128905, LOC106128906, LOC101928804, LOC107198088, LOC107198089, LOC107983998, LOC109279247, LOC111721713, LOC111811967, LOC111828494, LOC112552168, LOC112552169, LOC112552170, LOC112552171, LOC112552172, LOC112552173, LOC112552177, LOC112552178, LOC112553112, LOC112553113, LOC112553114, LOC112553115, LOC112553116, LOC112553117, LOC112553118, LOC112553119, LOC112577452, LOC112577453, LOC112577454, LOC113939975, LOC116286192, LOC116286193, LOC116286194, LOC116286195, LOC116286196, LOC116286197, LOC117125599, LOC117125600, LOC117125601, LOC117125602, LOC119369027, LOC119369028, LOC119369029, LOC119369030, LOC119369032, LOC119369033, LOC119369034, LOC119369035, LOC119369036, LOC119369037, LOC121627884, LOC121627885, LOC121627886, LOC121627887, LOC121627888, LOC121627889, LOC121852991, LOC121852992, LOC121852993, LOC121852994, LOC122539214, LOC125371542, LOC125371543, LOC125371544, LOC125384522, LOC125384524, LOC125384525, LOC125384526, LOC125384527, LOC125384528, LOC125384529, LOC125384530, LOC125384531, LOC125384532, LOC125384533, LOC125384534, LOC125384535, LOC125384536, LOC125384537, LOC125384538, LOC125384539, LOC125384540, LOC125384541, LOC125384542, LOC125384543, LOC125384544, LOC125384545, LOC125384546, LOC125384548, LOC125384549, LOC125384550, LOC125384551, LOC125384552, LOC125384553, LOC126862920, LOC126862921, LOC126862922, LOC126862923, LOC126862924, LOC126862925, LOC126862926, LOC126862927, LOC126862928, LOC126862929, LOC126862930, LOC126862931, LOC126862936, LOC126862937, LOC126862938, LOC126862932, LOC126862935, LOC126862933, LOC126862934, LOC126862939, LOC126862940, LOC126862941, LOC126862942, LOC126862943, LOC126862944, LOC126862945, LOC126862946, LOC126862947, LOC129391131, LOC129391132, LOC129391133, LOC129391134, LOC129391135, LOC129391136, LOC129391137, LOC129391138, LOC129391139, LOC129391140, LOC129391141, LOC129391142, LOC129391143, LOC129391144, LOC129391145, LOC129391146, LOC130064832, LOC130064833, LOC130064834, LOC130064835, LOC130064836, LOC130064837, LOC130064838, LOC130064839, LOC130064840, LOC130064841, LOC130064842, LOC130064843, LOC130064844, LOC130064845, LOC130064846, LOC130064847, LOC130064848, LOC130064849, LOC130064850, LOC130064851, LOC130064852, LOC130064853, LOC130064854, LOC130064855, LOC130064856, LOC130064857, LOC130064858, LOC130064859, LOC130064860, LOC130064861, LOC130064862, LOC130064863, LOC130064864, LOC130064865, LOC130064866, LOC130064867, LOC130064868, LOC130064869, LOC130064870, LOC130064871, LOC130064872, LOC130064873, LOC130064874, LOC130064875, LOC130064876, LOC130064877, LOC130064878, LOC130064879, LOC130064880, LOC130064881, LOC130064882, LOC130064883, LOC130064884, LOC130064885, LOC130064886, LOC130064887, LOC130064888, LOC130064889, LOC130064890, LOC130064891, LOC130064892, LOC130064893, LOC130064894, LOC130064895, LOC130064896, LOC130064897, LOC130064898, LOC130064899, LOC130064900, LOC130064901, LOC130064902, LOC130064903, LOC130064904, LOC130064905, LOC130064906, LOC130064907, LOC130064908, LOC130064909, LOC130064910, LOC130064911, LOC130064912, LOC130064913, LOC130064914, LOC130064915, LOC130064916, LOC130064917, LOC130064918, LOC130064919, LOC130064920, LOC130064921, LOC130064922, LOC130064923, LOC130064924, LOC130064925, LOC130064926, LOC130064927, LOC130064928, LOC130064929, LOC130064930, LOC130064931, LOC130064932, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TFPT, TMC4, TMEM143, TMEM150B, TMEM190, TMEM238, TMEM86B, TNNI3, TNNT1, TRAPPC2B, TRIM28, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2M, UBE2S, USP29, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSIG10L-AS1, VSTM1, ZBTB45, ZFP28, ZFP28-DT, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF114, ZNF132, ZNF132-DT, ZNF134, ZNF135, ZNF154, ZNF160, ZNF17, ZNF175, ZNF211, ZNF256, ZNF264, ZNF274, ZNF28, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF347, ZNF350, ZNF350-AS1, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF432, ZNF444, ZNF446, ZNF460, ZNF460-AS1, ZNF468, ZNF470, ZNF470-DT, ZNF471, ZNF473, ZNF473CR, ZNF480, ZNF497, ZNF497-AS1, ZNF524, ZNF525, ZNF528, ZNF528-AS1, ZNF530, ZNF534, ZNF543, ZNF544, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF582-DT, ZNF583, ZNF584, ZNF584-DT, ZNF586, ZNF587, ZNF587B, ZNF600, ZNF606, ZNF606-AS1, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF628, ZNF649, ZNF649-AS1, ZNF665, ZNF667, ZNF667-AS1, ZNF671, ZNF677, ZNF701, ZNF71, ZNF71-SMIM17, ZNF749, ZNF761, ZNF765, ZNF765-ZNF761, ZNF766, ZNF772, ZNF773, ZNF776, ZNF784, ZNF787, ZNF8, ZNF8-DT, ZNF8-ERVK3-1, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF845, ZNF865, ZNF880, ZNF888, ZNF888-AS1, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5A-AS1, ZSCAN5B, ZSCAN5C, ZSWIM9
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr19:49458192
GRCh38:
Chr19:48954935
BAXG3WInborn genetic diseasesUncertain significance
(May 26, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr19:49458195
GRCh38:
Chr19:48954938
BAXS4PInborn genetic diseasesUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr19:49458813
GRCh38:
Chr19:48955556
BAXS15GInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr19:49458839
GRCh38:
Chr19:48955582
BAXnot providedLikely benign
(Jul 16, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr19:49458970-49458971
GRCh38:
Chr19:48955713-48955714
BAXE41fs, E4fsInborn genetic diseasesUncertain significance
(Jan 18, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr19:49458971
GRCh38:
Chr19:48955714
BAXM1I, M38IInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr19:49458971-49458977
GRCh38:
Chr19:48955714-48955720
BAXG2fs, G39fsT-cell acute lymphoblastic leukemiasPathogenic
(Apr 15, 1998)
no assertion criteria provided
11.
GRCh37:
Chr19:49458971
GRCh38:
Chr19:48955714
BAXE4fs, E41fsCarcinoma of colonPathogenic
(Feb 14, 1997)
no assertion criteria provided
12.
GRCh37:
Chr19:49459024
GRCh38:
Chr19:48955767
BAXT19N, T56NInborn genetic diseasesUncertain significance
(May 4, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr19:49459030
GRCh38:
Chr19:48955773
BAXK21R, K58RInborn genetic diseasesLikely benign
(May 24, 2023)
criteria provided, single submitter
14.
GRCh37:
Chr19:49459053
GRCh38:
Chr19:48955796
BAXI29V, I66VInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr19:49459056
GRCh38:
Chr19:48955799
BAXG67R, G30RT-cell acute lymphoblastic leukemiasPathogenic
(Apr 15, 1998)
no assertion criteria provided
16.
GRCh37:
Chr19:49459527
GRCh38:
Chr19:48956270
BAXnot providedBenign
(May 21, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr19:49464247
GRCh38:
Chr19:48960990
BAXA106T, A184T, A147TInborn genetic diseasesUncertain significance
(Mar 7, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr19:49464815
GRCh38:
Chr19:48961558
BAXA184Tnot providedLikely benign
(Apr 10, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr19:48463931-57095254
FLT3LG, FPR1, PLA2G4C, ZNF580, ZNF581, ZNF582, ZNF583, ZNF610, ZNF611, ZNF613, ZNF614, SLC6A16, SNRNP70, PRKCG, PRMT1, PTOV1-AS2, PNKP, RCN3, RPL28, ZNF615, ZNF616, ZNF600, ZNF628, ZNF649, ZNF665, ZNF667, FPR2, FPR3, HSD17B14, HSPBP1, IGLON5, IL11, IL4I1, IRF3, ISOC2, GARIN5B, HAS1, HRC, PLEKHA4, PTPRH, RASIP1, RPS11, SLC17A7, SPACA4, FTL, FUT1, FUT2, FUZ, GALP, GARIN5A, GP6, GPR32, GRIN2D, GRWD1, GYS1, IZUMO1, IZUMO2, JOSD2, KASH5, KCNA7, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KLK12, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT5C, LAIR1, LAIR2, LENG1, LENG8, LENG9, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIN7B, MED25, LMTK3, LRRC4B, MAMSTR, MBOAT7, MIR125A, MIR150, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MYADM, MYBPC2, MYH14, NAPSA, NAT14, NCR1, NDUFA3, NKG7, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NTF4, NTN5, NLRP7, NLRP8, NLRP9, NOSIP, NR1H2, NUCB1, NUP62, ODAD1, OSCAR, PIH1D1, POLD1, PPFIA3, PPP1R12C, PPP1R15A, PPP2R1A, PPP6R1, PRPF31, PRR12, PRRG2, PTH2, PTOV1, RDH13, RFPL4A, RFPL4AL1, RPL13A, RPL18, RPS9, RRAS, RUVBL2, SBK2, SCAF1, SHANK1, SHISA7, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SPHK2, SPIB, SSC5D, SULT2B1, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TEAD2, TMEM190, TFPT, TMC4, TMEM143, TMEM150B, TMEM238, TMEM86B, TNNI3, TNNT1, TRPM4, TSEN34, TSKS, TTYH1, TULP2, U2AF2, UBE2S, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, ZFP28, ZNF114, ZNF160, ZNF175, ZNF28, ZNF320, ZNF331, ZNF347, ZNF350, ZNF415, ZNF432, ZNF444, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF524, ZNF528, ZNF534, ZNF577, ZNF578, ZNF579, ZNF677, ZNF701, ZNF761, ZNF765, ZNF766, ZNF784, ZNF787, ZNF808, ZNF813, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF836, ZNF841, ZNF845, ZNF865, ZNF880, ZNF888, ZSCAN5A, ZSCAN5B, ZSWIM9, ACP4, ADM5, AKT1S1, ALDH16A1, AP2A1, ASPDH, ATF5, BAX, BCAT2, BCL2L12, BRSK1, BSPH1, C19orf73, C19orf81, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CCDC106, CD33, CD37, CDC42EP5, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CYTH2, CNOT3, COX6B2, CPT1C, CTU1, DBP, DHDH, DKKL1, DNAAF3, DPRX, ELSPBP1, EMC10, EMP3, EPN1, EPS8L1, ERVV-1, ERVV-2, ETFB, FAM83E, FCAR, FCGRT, FGF21, FIZ1
not providedPathogenic
(Apr 14, 2020)
no assertion criteria provided
20.
GRCh37:
Chr19:47939842-54626871
FUZ, GARIN5A, RUVBL2, SCAF1, SULT2B1, SLC8A2, SNRNP70, SPACA4, SPHK2, SELENOW, IL4I1, IRF3, IZUMO1, GRIN2D, GRWD1, GYS1, IGLON5, IZUMO2, JOSD2, KASH5, KCNA7, SPIB, SULT2A1, SLC6A16, ACP4, ADM5, AKT1S1, ASPDH, ATF5, ALDH16A1, AP2A1, SLC17A7, GPR32, HAS1, HRC, HSD17B14, BAX, BCAT2, BCL2L12, BICRA, BSPH1, C19orf73, C19orf81, CA11, CABP5, CACNG6, CACNG7, CACNG8, CARD8, CD33, CD37, CEACAM18, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CLDND2, CLEC11A, CPT1C, CRX, CTU1, CYTH2, DBP, DHDH, DKKL1, DPRX, EHD2, ELSPBP1, EMC10, EMP3, ERVV-1, ERVV-2, ETFB, FAM83E, FCGRT, FGF21, FLT3LG, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, KCNC3, KCNJ14, KDELR1, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KPTN, LHB, LIG1, LIM2, LIN7B, LMTK3, LRRC4B, MAMSTR, MED25, MIR125A, MIR150, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MYADM, MYBPC2, MYH14, NAPA, NAPSA, NR1H2, NDUFA3, NKG7, NLRP12, NOP53, NOSIP, NTF4, NTN5, NUCB1, NUP62, ODAD1, PTOV1-AS2, OSCAR, PIH1D1, PLA2G4C, PLEKHA4, PNKP, POLD1, PPFIA3, PPP1R15A, PPP2R1A, PRKCG, PRMT1, PRPF31, PRR12, PRRG2, PTH2, PTOV1, RASIP1, RCN3, RPL13A, RPL18, RPS11, RRAS, SHANK1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SYNGR4, SYT3, TARM1, TBC1D17, TEAD2, TFPT, TMEM143, TPRX1, TRPM4, TSKS, TULP2, VN1R2, VN1R4, VRK3, VSIG10L, ZNF320, VSTM1, ZNF114, ZNF160, ZNF175, ZNF28, ZNF331, ZNF347, ZNF350, ZNF415, ZNF432, ZNF468, ZNF473, ZNF480, ZNF528, ZNF534, ZNF541, ZNF577, ZNF578, ZNF600, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF665, ZNF677, ZNF701, ZNF761, ZNF765, ZNF766, ZNF808, ZNF813, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF836, ZNF841, ZNF845, ZNF880, ZNF888, ZSWIM9
not providednot providedno assertion provided
21.
GRCh37:
Chr19:44738088-53621561
CLDND2, IGSF23, IL4I1, INAFM1, PIH1D1, PLA2G4C, SULT2B1, SYMPK, SYNGR4, CLEC11A, IRF2BP1, IRF3, IZUMO1, PLEKHA4, SYT3, TSKS, TULP2, TMEM143, TMEM160, TPRX1, TRAPPC6A, TRPM4, TBC1D17, TEAD2, TRU-TCA1-1, VASP, VRK3, VSIG10L, TOMM40, PPFIA3, PPM1N, PPP1R13L, PPP1R15A, PPP1R37, PNKP, PPP2R1A, PNMA8B, POLD1, PNMA8A, POLR1G, KLK10, KLK11, JOSD2, IZUMO2, KCNC3, KDELR1, KLC3, KLK1, KASH5, KCNA7, KCNJ14, CYTH2, CLPTM1, CPT1C, DHDH, DHX34, CRX, CTU1, DACT3, DBP, DKKL1, DMPK, DMWD, EHD2, ELSPBP1, APOE, AP2S1, APOC1, ASPDH, ACP4, ADM5, ALDH16A1, AP2A1, ARHGAP35, AKT1S1, APOC2, APOC4, ATF5, BAX, BBC3, BCAM, BCAT2, BCL2L12, BCL3, BICRA, BLOC1S3, BSPH1, C19orf73, C19orf81, C5AR1, C5AR2, CA11, CABP5, CALM3, CARD8, CBLC, CCDC61, CCDC8, CCDC9, CD33, CD37, CEACAM16, CEACAM18, CEACAM19, CEACAM20, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CKM, CLASRP, EMC10, EML2, EMP3, ERCC1, ERCC2, ERVV-1, ERVV-2, ETFB, EXOC3L2, FAM83E, FBXO46, FCGRT, FGF21, FKRP, FLT3LG, FOSB, FOXA3, FPR1, FPR2, FPR3, FTL, FUT1, FUT2, FUZ, GARIN5A, GEMIN7, GIPR, GNG8, GPR32, GPR4, GRIN2D, GRWD1, GYS1, HAS1, HIF3A, HRC, HSD17B14, IGFL1, IGFL2, IGFL3, IGFL4, IGLON5, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KPTN, LHB, LIG1, LIM2, LIN7B, LMTK3, LRRC4B, MAMSTR, MARK4, MED25, MEIS3, MIR125A, MIR150, MIR99B, MIRLET7E, MYBPC2, MYH14, MYPOP, NANOS2, NAPA, NAPSA, NECTIN2, NKG7, NKPD1, NOP53, NOSIP, NOVA2, NPAS1, NR1H2, NTF4, NTN5, NUCB1, NUP62, ODAD1, OPA3, PGLYRP1, PPP5C, PPP5D1, PRKD2, PRMT1, PRR12, PRRG2, PTGIR, PTH2, PTOV1, PTOV1-AS2, PVR, QPCTL, RASIP1, RCN3, RELB, RPL13A, RPL18, RPS11, RRAS, RSPH6A, RTN2, RUVBL2, SAE1, SCAF1, SELENOW, SHANK1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIX5, SLC17A7, SLC1A5, SLC6A16, SLC8A2, SNRNP70, SNRPD2, SPACA4, SPHK2, SPIB, STRN4, SULT2A1, ZC3H4, ZNF112, ZNF114, ZNF160, ZNF175, ZNF180, ZNF227, ZNF229, ZNF233, ZNF235, ZNF28, ZNF285, ZNF296, ZNF320, ZNF350, ZNF415, ZNF432, ZNF468, ZNF473, ZNF480, ZNF528, ZNF534, ZNF541, ZNF577, ZNF578, ZNF600, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF649, ZNF701, ZNF766, ZNF808, ZNF816, ZNF816-ZNF321P, ZNF83, ZNF836, ZNF841, ZNF880, ZNF888, ZSWIM9
not providedPathogenic
(Jul 6, 2018)
no assertion criteria provided
22.
GRCh37:
Chr19:48119589-49595956
not providedUncertain significance
(Oct 26, 2017)
no assertion criteria provided
23.
GRCh37:
Chr19:49447713-49470073
DHDH, BAX, FTLnot providedBenign
(Sep 1, 2016)
no assertion criteria provided
24.
GRCh37:
Chr19:49389934-49477474
DHDH, FTL, BAX, NUCB1, TULP2, GYS1not providedBenign
(Dec 14, 2016)
no assertion criteria provided
25.
GRCh37:
Chr19:260912-59097160
ZNF426, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTMAP, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, ALKBH7, AMH, ANGPTL4, ANGPTL6, ANGPTL8, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC1, APOC2, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, ATG4D, ATP13A1, ATP1A3, ATP4A, ATP5F1D, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BAX, BBC3, BCAM, BCAT2, BCKDHA, BCL2L12, BCL3, BEST2, BICRA, BLOC1S3, BLVRB, BORCS8, BRD4, BRME1, BRSK1, BSG, BSPH1, BST2, BTBD2, C19orf12, C19orf18, C19orf25, C19orf33, C19orf38, C19orf44, C19orf47, C19orf53, C19orf67, C19orf73, C19orf81, C2CD4C, C3, C5AR1, C5AR2, CA11, CABP5, CACNA1A, CACNG6, CACNG7, CACNG8, CACTIN, CADM4, CALM3, CALR, CALR3, CAMSAP3, CAPN12, CAPNS1, CAPS, CARD8, CARM1, CASP14, CATSPERD, CATSPERG, CBARP, CBLC, CC2D1A, CCDC106, CCDC124, CCDC159, CCDC61, CCDC8, CCDC9, CCDC97, CCL25, CCNE1, CCNP, CD177, CD209, CD22, CD320, CD33, CD37, CD70, CD79A, CDC34, CDC37, CDC42EP5, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM19, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPG, CELF5, CEP89, CERS1, CERS4, CFD, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHAF1A, CHERP, CHMP2A, CHST8, CIB3, CIC, CILP2, CIMAP1D, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC17A, CLEC4G, CLEC4M, CLIP3, CLPP, CLPTM1, CNFN, CNN1, CNN2, COPE, CNOT3, COL5A3, COLGALT1, COMP, COQ8B, COX6B1, COX6B2, COX7A1, CPAMD8, CPT1C, CRB3, CREB3L3, CRLF1, CRTC1, CRX, CSNK1G2, CTU1, CTXN1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, CYTH2, DACT3, DAND5, DAPK3, DAZAP1, DBP, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DENND1C, DHDH, DHPS, DHX34, DIRAS1, DKKL1, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOHH, DOT1L, DPF1, DPP9, DPRX, DPY19L3, DUS3L, DUXA, DYRK1B, EBI3, ECH1, ECSIT, EEF2, EFNA2, EGLN2, EHD2, EID2, EID2B, EIF3G, EIF3K, ELANE, ELAVL1, ELAVL3, ELL, ELOF1, ELSPBP1, EMC10, EML2, EMP3, EPHX3, EPN1, EPOR, EPS15L1, EPS8L1, ERCC1, ERCC2, ERF, ERICH4, ERVV-1, ERVV-2, ETFB, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, F2RL3, FAAP24, FAM174C, FAM187B, FAM32A, FAM83E, FAM98C, FARSA, FBL, FBN3, FBXL12, FBXO17, FBXO27, FBXO46, FBXW9, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX2, FEM1A, FFAR1, FFAR2, FFAR3, FGF21, FGF22, FIZ1, FKBP8, FKRP, FLT3LG, FOSB, FOXA3, FPR1, FPR2, FPR3, FSD1, FSTL3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD1, FXYD3, FXYD5, FXYD7, FZR1, GADD45B, GADD45GIP1, GALP, GAMT, GAPDHS, GARIN5A, GARIN5B, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GEMIN7, GET3, GGN, GIPC1, GIPC3, GIPR, GMFG, GMIP, GNA11, GNA15, GNG7, GNG8, GP6, GPATCH1, GPI, GPR108, GPR32, GPR4, GPR42, GPX4, GRAMD1A, GRIK5, GRIN2D, GRIN3B, GRWD1, GSK3A, GTF2F1, GTPBP3, GYS1, GZMM, HAMP, HAPLN4, HAS1, HAUS5, HAUS8, HCN2, HCST, HIF3A, HIPK4, HMG20B, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD11B1L, HSD17B14, HSH2D, HSPB6, HSPBP1, ICAM1, ICAM3, ICAM4, ICAM5, IER2, IFI30, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, INSR, IQCN, IRF2BP1, IRF3, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IZUMO4, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLC3, KLF1, KLF16, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LENG1, LENG8, LENG9, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LIM2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED26, MED29, MEF2B, MEGF8, MEIS3, MEX3D, MFSD12, MIA, MICOS13, MIDN, MIER2, MIR125A, MIR150, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCLN, NFIC, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NFIX, NFKBIB, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NOSIP, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, P2RY11, PAF1, PAFAH1B3, PAK4, PALM, PALM3, PBX4, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRODH2, PROSER3, PRSS57, PRPF31, PRR12, PRR19, PRR22, PRRG2, PRTN3, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RNF126, RPL13A, RPL18, RPL18A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SAXO5, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A10, SLC7A9, SLC8A2, SMARCA4, SMG9, SMIM17, SMIM24, SMIM7, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPACA4, SPC24, SPHK2, SPIB, SPINT2, SPMAP2, SPPL2B, SPRED3, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYMPK, SYNE4, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TDRD12, TEAD2, TECR, TEKTIP1, TEKTL1, TEX101, TFPT, TGFB1, TGFBR3L, THAP8, THOP1, TICAM1, TIMM13, TIMM29, TIMM44, TIMM50, TINCR, TJP3, TLE2, TLE5, TLE6, TM6SF2, TMC4, TMED1, TMEM143, TMEM145, TMEM147, TMEM150B, TMEM160, TMEM161A, TMEM190, TMEM205, TMEM221, TMEM238, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TNNI3, TNNT1, TNPO2, TOMM40, TPGS1, TPM4, TPRX1, TRAPPC5, TRAPPC6A, TRIM28, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TSKS, TSPAN16, TSSK6, TTC9B, TTYH1, TUBB4A, TULP2, TYK2, TYROBP, U2AF1L4, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBL5, UBXN6, UCA1, UHRF1, UNC13A, UPF1, UPK1A, UQCR11, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VASP, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR83, WDR83OS, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, YJEFN3, YJU2, YJU2B, ZBTB32, ZBTB45, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZFP82, ZFR2, ZGLP1, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF114, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF181, ZNF20, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF333, ZNF345, ZNF347, ZNF350, ZNF358, ZNF382, ZNF383, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF420
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
26.
GRCh37:
Chr19:68029-59110290
IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, INSR, IQCN, IRF2BP1, IRF3, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IZUMO4, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIRREL2, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KISS1R, KLC3, KLF1, KLF16, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LENG1, LENG8, LENG9, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED26, MED29, MEF2B, MEGF8, MEIS3, MEX3D, MFSD12, MIA, MICOS13, MIDN, MIER2, MIR125A, MIR150, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCLN, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NFIC, NFIX, NFKBIB, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NOSIP, NOTCH3, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NOVA2, NPAS1, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR4F17, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, P2RY11, PAF1, PAFAH1B3, PAK4, PALM, PALM3, PBX4, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRODH2, PROSER3, PRSS57, PRPF31, PRR12, PRR19, PRR22, PRRG2, PRTN3, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RNF126, RPL13A, RPL18, RPL18A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SAXO5, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A10, SLC7A9, SLC8A2, SMARCA4, SMG9, SMIM17, SMIM24, SMIM7, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPACA4, SPC24, SPHK2, SPIB, SPINT2, SPMAP2, SPPL2B, SPRED3, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYMPK, SYNE4, SYNGR4, SYT3, SYT5, TDRD12, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TEAD2, TECR, TEKTIP1, TEKTL1, TEX101, TICAM1, TFPT, TGFB1, TGFBR3L, THAP8, THOP1, TIMM13, TIMM29, TIMM44, TIMM50, TINCR, TJP3, TLE2, TLE5, TLE6, TM6SF2, TMC4, TMED1, TMEM143, TMEM145, TMEM147, TMEM150B, TMEM160, TMEM161A, TMEM190, TMEM205, TMEM221, TMEM238, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TNNI3, TNNT1, TNPO2, TOMM40, TPGS1, TPM4, TPRX1, TRAPPC5, TRAPPC6A, TRIM28, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TSKS, TSPAN16, TSSK6, TTC9B, TTYH1, TUBB4A, TULP2, TYK2, TYROBP, U2AF1L4, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBL5, UBXN6, UCA1, UHRF1, UNC13A, UPF1, UPK1A, UQCR11, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VASP, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, WDR83OS, VSTM1, VSTM2B, WDR18, WDR62, WDR83, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, YJEFN3, YJU2, YJU2B, ZBTB32, ZBTB45, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZFP82, ZFR2, ZGLP1, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF114, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF181, ZNF20, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF333, ZNF345, ZNF347, ZNF350, ZNF358, ZNF382, ZNF383, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF420, ZNF426, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTMAP, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, ALKBH7, AMH, ANGPTL4, ANGPTL6, ANGPTL8, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC1,