| - GRCh37:
- Chr4:97014044-137331362
- GRCh38:
- Chr4:96092893-136410207
| ABHD18, ADAD1, ADH1A, ADH1B, ADH1C, ADH4, ADH5, ADH6, ADH7, AFG2A, AIMP1, ALPK1, ANK2, ANKRD50, ANXA5, AP1AR, AP1AR-DT, ARHGEF38, ARHGEF38-IT1, ARSJ, BANK1, BBS12, BBS7, BBS7-DT, BDH2, BLTP1, C4orf17, C4orf3, C4orf33, C4orf54, CAMK2D, CASP6, CCNA2, CENPE, CFI, CISD2, COL25A1, COL25A1-DT, CXXC4, CXXC4-AS1, CYP2U1, CYP2U1-AS1, DAPP1, DDIT4L, DDIT4L-AS1, DKK2, DNAJB14, EGF, EIF4E, ELOVL6, EMCN, ENPEP, ETNPPL, EXOSC9, FABP2, FAM241A, FAT4, FGF2, FLJ20021, GAR1, GAR1-DT, GIMD1, GSTCD, GSTCD-AS1, H2AZ1, H2AZ1-DT, HADH, HSPA4L, IL2, IL21, IL21-AS1, INTS12, INTU, JADE1, LAMTOR3, LARP1B, LARP7, LEF1, LEF1-AS1, LINC00613, LINC01061, LINC01091, LINC01216, LINC01217, LINC01218, LINC01256, LINC01365, LINC01378, LINC02173, LINC02262, LINC02263, LINC02264, LINC02267, LINC02377, LINC02379, LINC02428, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02502, LINC02503, LINC02516, LINC02615, LINC02945, LOC100507053, LOC101927259, LOC101929577, LOC101929621, LOC101929762, LOC102723704, LOC102725220, LOC105377352, LOC105377366, LOC105377438, LOC105377621, LOC107986192, LOC109113863, LOC110120634, LOC110120703, LOC110120805, LOC110120806, LOC110120819, LOC110120975, LOC110121089, LOC110121129, LOC110121138, LOC110121150, LOC111188164, LOC111216272, LOC111216273, LOC111216288, LOC111216289, LOC111216290, LOC111216291, LOC111216292, LOC111240471, LOC111413048, LOC111591508, LOC112935970, LOC112935971, LOC112935972, LOC112935973, LOC112935974, LOC112935975, LOC112935976, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC116158504, LOC116158505, LOC116158506, LOC116158507, LOC121053189, LOC121053190, LOC121053191, LOC121053192, LOC121056741, LOC121056742, LOC121056743, LOC121725179, LOC121725180, LOC121725181, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123477791, LOC123477792, LOC123477793, LOC123477794, LOC123477795, LOC123477796, LOC123477797, LOC123477798, LOC123477799, LOC123477800, LOC123477801, LOC123477802, LOC123477803, LOC123477804, LOC123477805, LOC123477806, LOC123477807, LOC123477808, LOC123477809, LOC123477810, LOC123480920, LOC123480921, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC126807115, LOC126807116, LOC126807117, LOC126807118, LOC126807119, LOC126807120, LOC126807121, LOC126807122, LOC126807123, LOC126807124, LOC126807125, LOC126807126, LOC126807127, LOC126807128, LOC126807129, LOC126807130, LOC126807131, LOC126807132, LOC126807133, LOC126807134, LOC126807135, LOC126807136, LOC126807137, LOC126807138, LOC126807139, LOC126807140, LOC126807141, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129389230, LOC129389231, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129992847, LOC129992848, LOC129992849, LOC129992850, LOC129992851, LOC129992852, LOC129992853, LOC129992854, LOC129992855, LOC129992856, LOC129992857, LOC129992858, LOC129992859, LOC129992860, LOC129992861, LOC129992862, LOC129992863, LOC129992864, LOC129992865, LOC129992866, LOC129992867, LOC129992868, LOC129992869, LOC129992870, LOC129992871, LOC129992872, LOC129992873, LOC129992874, LOC129992875, LOC129992876, LOC129992877, LOC129992878, LOC129992879, LOC129992880, LOC129992881, LOC129992882, LOC129992883, LOC129992884, LOC129992885, LOC129992886, LOC129992887, LOC129992888, LOC129992889, LOC129992890, LOC129992891, LOC129992892, LOC129992893, LOC129992894, LOC129992895, LOC129992896, LOC129992897, LOC129992898, LOC129992899, LOC129992900, LOC129992901, LOC129992902, LOC129992903, LOC129992904, LOC129992905, LOC129992906, LOC129992907, LOC129992908, LOC129992909, LOC129992910, LOC129992911, LOC129992912, LOC129992913, LOC129992914, LOC129992915, LOC129992916, LOC129992917, LOC129992918, LOC129992919, LOC129992920, LOC129992921, LOC129992922, LOC129992923, LOC129992924, LOC129992925, LOC129992926, LOC129992927, LOC129992928, LOC129992929, LOC129992930, LOC129992931, LOC129992932, LOC129992933, LOC129992934, LOC129992935, LOC129992936, LOC129992937, LOC129992938, LOC129992939, LOC129992940, LOC129992941, LOC129992942, LOC129992943, LOC129992944, LOC129992945, LOC129992946, LOC129992947, LOC129992948, LOC129992949, LOC129992950, LOC129992951, LOC129992952, LOC129992953, LOC129992954, LOC129992955, LOC129992956, LOC129992957, LOC129992958, LOC129992959, LOC129992960, LOC129992961, LOC129992962, LOC129992963, LOC129992964, LOC129992965, LOC129992966, LOC129992967, LOC129992968, LOC129992969, LOC129992970, LOC129992971, LOC129992972, LOC129992973, LOC129992974, LOC129992975, LOC129992976, LOC129992977, LOC129992978, LOC129992979, LOC129992980, LOC129992981, LOC129992982, LOC129992983, LOC129992984, LOC129992985, LOC129992986, LOC129992987, LOC129992988, LOC129992989, LOC129992990, LOC129992991, LOC129992992, LOC129992993, LOC129992994, LOC129992995, LOC129992996, LOC129992997, LOC129992998, LOC129992999, LOC129993000, LOC129993001, LOC129993002, LOC129993003, LOC129993004, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC132088988, LOC132088989, LOC132088990, LOC132088991, LOC132088992, LOC132088993, LOC132088994, LOC132088995, LOC132088996, LOC132088997, LOC132088998, LOC132088999, LOC132089000, LOC132089001, LOC132089002, LOC132089003, LOC132089004, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132090708, LOC132090709, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, LRIT3, MAD2L1, MAD2L1-DT, MANBA, MCUB, METAP1, METTL14, METTL14-DT, MFSD8, MIR1243, MIR1255A, MIR1973, MIR2054, MIR297, MIR302A, MIR302B, MIR302C, MIR302CHG, MIR302D, MIR367, MIR3684, MIR576, MIR577, MIR8066, MIR8082, MTTP, MYOZ2, NDNF, NDNF-AS1, NDST3, NDST4, NEUROG2, NEUROG2-AS1, NFKB1, NPNT, NUDT6, OSTC, PABPC4L, PANCR, PAPSS1, PCDH10, PCDH10-DT, PDE5A, PGRMC2, PITX2, PLA2G12A, PLK4, PP12613, PPA2, PPP3CA, PRDM5, PRSS12, QRFPR, RAP1GDS1, RPL34, RPL34-DT, RRH, SCLT1, SEC24B, SEC24B-AS1, SEC24D, SGMS2, SLC25A31, SLC39A8, SLC9B1, SLC9B2, SMIM43, SNHG27, SNHG8, SNORA101A, SNORA24, SPRY1, STPG2, STPG2-AS1, SYNPO2, TACR3, TACR3-AS1, TBCK, TET2, TET2-AS1, TIFA, TNIP3, TRAM1L1, TRC-GCA2-1, TRMT10A, TRPC3, TSPAN5, TSPAN5-DT, UBE2D3, UBE2D3-AS1, UGT8, USP53, ZGRF1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:117552018-146351052
- GRCh38:
- Chr4:116630862-145429900
| LOC123480933, LOC123480934, LOC123480935, LOC123480936, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC126807141, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129389239, LOC129389240, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC129993088, LOC129993089, LOC129993090, LOC129993091, LOC129993092, LOC129993093, LOC129993094, LOC129993095, LOC129993096, LOC129993097, LOC129993098, LOC129993099, LOC129993100, LOC129993101, LOC129993102, LOC129993103, LOC129993104, LOC129993105, LOC129993106, LOC129993107, LOC129993108, LOC129993109, LOC129993110, LOC129993111, LOC129993112, LOC129993113, LOC129993114, LOC129993115, LOC129993116, LOC129993117, LOC129993118, LOC129993119, LOC129993120, LOC129993121, LOC129993122, LOC129993123, LOC129993124, LOC129993125, LOC129993126, LOC129993127, LOC129993128, LOC129993129, LOC129993130, LOC129993131, LOC129993132, LOC129993133, LOC129993134, LOC129993135, LOC129993136, LOC129993137, LOC129993138, LOC129993139, LOC129993140, LOC129993141, LOC129993142, LOC129993143, LOC129993144, LOC129993145, LOC129993146, LOC129993147, LOC129993148, LOC129993149, LOC129993150, LOC129993151, LOC129993152, LOC129993153, LOC129993154, LOC129993155, LOC129993156, LOC129993157, LOC129993158, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132089042, LOC132089043, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, MAD2L1, MAD2L1-DT, MAML3, METTL14, METTL14-DT, MFSD8, MGARP, MGAT4D, MGST2, MIR2054, MIR3139, MYOZ2, NAA15, NDNF, NDNF-AS1, NDST3, NDUFC1, NOCT, NUDT6, OTUD4, PABPC4L, PCDH10, PCDH10-DT, PCDH18, PDE5A, PGRMC2, PLK4, PP12613, PRDM5, PRSS12, QKILA, QRFPR, RAB33B, RAB33B-AS1, RNF150, SCLT1, SCOC, SCOC-AS1, SEC24D, SETD7, SLC25A31, SLC7A11, SLC7A11-AS1, SMARCA5, SMARCA5-AS1, SMIM43, SNHG27, SNHG8, SNORA24, SPRY1, SYNPO2, TBC1D9, TNIP3, TRAM1L1, TRC-GCA2-1, TRPC3, UCP1, USP38, USP38-DT, USP53, ZNF330, ABCE1, ABHD18, ADAD1, AFG2A, ANAPC10, ANKRD50, ANXA5, BBS12, BBS7, BBS7-DT, BLTP1, C4orf3, C4orf33, CCNA2, CLGN, ELF2, ELMOD2, EXOSC9, FABP2, FAT4, FGF2, FREM3, GAB1, GYPA, GYPB, GYPE, HHIP, HHIP-AS1, HSPA4L, IL15, IL2, IL21, IL21-AS1, INPP4B, INTU, JADE1, LARP1B, LINC00498, LINC00499, LINC00613, LINC00616, LINC01061, LINC01091, LINC01256, LINC01365, LINC01378, LINC02172, LINC02262, LINC02263, LINC02264, LINC02266, LINC02276, LINC02377, LINC02379, LINC02432, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02502, LINC02510, LINC02511, LINC02516, LINC02615, LOC101927259, LOC101927414, LOC101927516, LOC101927636, LOC101929762, LOC105377438, LOC105377448, LOC105377458, LOC105377622, LOC107986192, LOC109113863, LOC110120799, LOC110121089, LOC110121129, LOC110121150, LOC111413027, LOC111413048, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC116158507, LOC116158508, LOC121056741, LOC121056742, LOC121056743, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:118273037-134486822
- GRCh38:
- Chr4:117351881-133565667
| ABHD18, ADAD1, AFG2A, ANKRD50, ANXA5, BBS12, BBS7, BBS7-DT, BLTP1, C4orf3, C4orf33, CCNA2, EXOSC9, FABP2, FAT4, FGF2, HSPA4L, IL2, IL21, IL21-AS1, INTU, JADE1, LARP1B, LINC01061, LINC01091, LINC01256, LINC01365, LINC01378, LINC02262, LINC02263, LINC02264, LINC02377, LINC02379, LINC02465, LINC02466, LINC02479, LINC02502, LINC02516, LINC02615, LOC101927259, LOC101929762, LOC107986192, LOC109113863, LOC110121089, LOC110121129, LOC110121150, LOC111413048, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC116158507, LOC121056741, LOC121056742, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, MAD2L1, MAD2L1-DT, METTL14, METTL14-DT, MFSD8, MIR2054, MYOZ2, NDNF, NDNF-AS1, NDST3, NUDT6, PCDH10, PCDH10-DT, PDE5A, PGRMC2, PLK4, PP12613, PRDM5, PRSS12, QRFPR, SCLT1, SEC24D, SLC25A31, SMIM43, SNHG27, SNHG8, SNORA24, SPRY1, SYNPO2, TNIP3, TRC-GCA2-1, TRPC3, USP53 | | See cases | Pathogenic (Jan 28, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr4:118986724-190828225
- GRCh38:
- Chr4:118065569-190042639
| LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807142, LOC126807143, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC129389232, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129389239, LOC129389240, LOC129389241, LOC129389242, LOC129389243, LOC129389244, LOC129389245, LOC129389246, LOC129389247, LOC129389248, LOC129389249, LOC129389250, LOC129389251, LOC129389252, LOC129389253, LOC129993005, LOC129993006, LOC129993007, LOC129993008, LOC129993009, LOC129993010, LOC129993011, LOC129993012, LOC129993013, LOC129993014, LOC129993015, LOC129993016, LOC129993017, LOC129993018, LOC129993019, LOC129993020, LOC129993021, LOC129993022, LOC129993023, LOC129993024, LOC129993025, LOC129993026, LOC129993027, LOC129993028, LOC129993029, LOC129993030, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC129993088, LOC129993089, LOC129993090, LOC129993091, LOC129993092, LOC129993093, LOC129993094, LOC129993095, LOC129993096, LOC129993097, LOC129993098, LOC129993099, LOC129993100, LOC129993101, LOC129993102, LOC129993103, LOC129993104, LOC129993105, LOC129993106, LOC129993107, LOC129993108, LOC129993109, LOC129993110, LOC129993111, LOC129993112, LOC129993113, LOC129993114, LOC129993115, LOC129993116, LOC129993117, LOC129993118, LOC129993119, LOC129993120, LOC129993121, LOC129993122, LOC129993123, LOC129993124, LOC129993125, LOC129993126, LOC129993127, LOC129993128, LOC129993129, LOC129993130, LOC129993131, LOC129993132, LOC129993133, LOC129993134, LOC129993135, LOC129993136, LOC129993137, LOC129993138, LOC129993139, LOC129993140, LOC129993141, LOC129993142, LOC129993143, LOC129993144, LOC129993145, LOC129993146, LOC129993147, LOC129993148, LOC129993149, LOC129993150, LOC129993151, LOC129993152, LOC129993153, LOC129993154, LOC129993155, LOC129993156, LOC129993157, LOC129993158, LOC129993159, LOC129993160, LOC129993161, LOC129993162, LOC129993163, LOC129993164, LOC129993165, LOC129993166, LOC129993167, LOC129993168, LOC129993169, LOC129993170, LOC129993171, LOC129993172, LOC129993173, LOC129993174, LOC129993175, LOC129993176, LOC129993177, LOC129993178, LOC129993179, LOC129993180, LOC129993181, LOC129993182, LOC129993183, LOC129993184, LOC129993185, LOC129993186, LOC129993187, LOC129993188, LOC129993189, LOC129993190, LOC129993191, LOC129993192, LOC129993193, LOC129993194, LOC129993195, LOC129993196, LOC129993197, LOC129993198, LOC129993199, LOC129993200, LOC129993201, LOC129993202, LOC129993203, LOC129993204, LOC129993205, LOC129993206, LOC129993207, LOC129993208, LOC129993209, LOC129993210, LOC129993211, LOC129993212, LOC129993213, LOC129993214, LOC129993215, LOC129993216, LOC129993217, LOC129993218, LOC129993219, LOC129993220, LOC129993221, LOC129993222, LOC129993223, LOC129993224, LOC129993225, LOC129993226, LOC129993227, LOC129993228, LOC129993229, LOC129993230, LOC129993231, LOC129993232, LOC129993233, LOC129993234, LOC129993235, LOC129993236, LOC129993237, LOC129993238, LOC129993239, LOC129993240, LOC129993241, LOC129993242, LOC129993243, LOC129993244, LOC129993245, LOC129993246, LOC129993247, LOC129993248, LOC129993249, LOC129993250, LOC129993251, LOC129993252, LOC129993253, LOC129993254, LOC129993255, LOC129993256, LOC129993257, LOC129993258, LOC129993259, LOC129993260, LOC129993261, LOC129993262, LOC129993263, LOC129993264, LOC129993265, LOC129993266, LOC129993267, LOC129993268, LOC129993269, LOC129993270, LOC129993271, LOC129993272, LOC129993273, LOC129993274, LOC129993275, LOC129993276, LOC129993277, LOC129993278, LOC129993279, LOC129993280, LOC129993281, LOC129993282, LOC129993283, LOC129993284, LOC129993285, LOC129993286, LOC129993287, LOC129993288, LOC129993289, LOC129993290, LOC129993291, LOC129993292, LOC129993293, LOC129993294, LOC129993295, LOC129993296, LOC129993297, LOC129993298, LOC129993299, LOC129993300, LOC129993301, LOC129993302, LOC129993303, LOC129993304, LOC129993305, LOC129993306, LOC129993307, LOC129993308, LOC129993309, LOC129993310, LOC129993311, LOC129993312, LOC129993313, LOC129993314, LOC129993315, LOC129993316, LOC129993317, AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, AFG2A, AGA, AGA-DT, ANAPC10, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, BBS12, BBS7, BBS7-DT, BLTP1, C4orf3, C4orf33, C4orf46, C4orf51, CASP3, CBR4, CBR4-DT, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP96, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, EXOSC9, F11, F11-AS1, FABP2, FAM149A, FAM218A, FAT1, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGF2, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, HSPA4L, IL15, IL2, IL21, IL21-AS1, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, IRF2-DT, JADE1, KLHL2, KLKB1, LARP1B, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01060, LINC01061, LINC01091, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01256, LINC01262, LINC01365, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02377, LINC02379, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02491, LINC02492, LINC02500, LINC02502, LINC02504, LINC02507, LINC02508, LINC02509, LINC02510, LINC02511, LINC02514, LINC02515, LINC02516, LINC02615, LINC03074, LOC101927259, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101929762, LOC101930028, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, LOC107986192, LOC107992388, LOC108281188, LOC108281192, LOC109113863, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121129, LOC110121150, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112935977, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158507, LOC116158508, LOC116158509, LOC116158510, LOC121056741, LOC121056742, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725182, LOC121725183, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC129993318, LOC129993319, LOC129993320, LOC129993321, LOC129993322, LOC129993323, LOC129993324, LOC129993325, LOC129993326, LOC129993327, LOC129993328, LOC129993329, LOC129993330, LOC129993331, LOC129993332, LOC129993333, LOC129993334, LOC129993335, LOC129993336, LOC129993337, LOC129993338, LOC129993339, LOC129993340, LOC129993341, LOC129993342, LOC129993343, LOC129993344, LOC129993345, LOC129993346, LOC129993347, LOC129993348, LOC129993349, LOC129993350, LOC129993351, LOC129993352, LOC129993353, LOC129993354, LOC129993355, LOC129993356, LOC129993357, LOC129993358, LOC129993359, LOC129993360, LOC129993361, LOC129993362, LOC129993363, LOC129993364, LOC129993365, LOC129993366, LOC129993367, LOC129993368, LOC129993369, LOC129993370, LOC129993371, LOC129993372, LOC129993373, LOC129993374, LOC129993375, LOC129993376, LOC129993377, LOC129993378, LOC129993379, LOC129993380, LOC129993381, LOC129993382, LOC129993383, LOC129993384, LOC129993385, LOC129993386, LOC129993387, LOC129993388, LOC129993389, LOC129993390, LOC129993391, LOC129993392, LOC129993393, LOC129993394, LOC129993395, LOC129993396, LOC129993397, LOC129993398, LOC129993399, LOC129993400, LOC129993401, LOC129993402, LOC129993403, LOC129993404, LOC129993405, LOC129993406, LOC129993407, LOC129993408, LOC129993409, LOC129993410, LOC129993411, LOC129993412, LOC129993413, LOC129993414, LOC129993415, LOC129993416, LOC129993417, LOC129993418, LOC129993419, LOC129993420, LOC129993421, LOC129993422, LOC129993423, LOC129993424, LOC129993425, LOC129993426, LOC129993427, LOC129993428, LOC129993429, LOC129993430, LOC129993431, LOC129993432, LOC129993433, LOC129993434, LOC129993435, LOC129993436, LOC129993437, LOC129993438, LOC129993439, LOC129993440, LOC129993441, LOC129993442, LOC129993443, LOC129993444, LOC129993445, LOC129993446, LOC129993447, LOC129993448, LOC129993449, LOC129993450, LOC129993451, LOC129993452, LOC129993453, LOC129993454, LOC129993455, LOC129993456, LOC129993457, LOC129993458, LOC129993459, LOC129993460, LOC129993461, LOC129993462, LOC129993463, LOC129993464, LOC129993465, LOC129993466, LOC129993467, LOC129993468, LOC129993469, LOC129993470, LOC129993471, LOC129993472, LOC129993473, LOC129993474, LOC129993475, LOC129993476, LOC129993477, LOC129993478, LOC129993479, LOC129993480, LOC129993481, LOC129993482, LOC129993483, LOC129993484, LOC129993485, LOC129993486, LOC129993487, LOC129993488, LOC129993489, LOC129993490, LOC129993491, LOC129993492, LOC129993493, LOC129993494, LOC129993495, LOC129993496, LOC129993497, LOC129993498, LOC129993499, LOC129993500, LOC129993501, LOC129993502, LOC129993503, LOC129993504, LOC129993505, LOC129993506, LOC129993507, LOC129993508, LOC129993509, LOC129993510, LOC129993511, LOC129993512, LOC129993513, LOC129993514, LOC129993515, LOC129993516, LOC129993517, LOC129993518, LOC129993519, LOC129993520, LOC129993521, LOC129993522, LOC129993523, LOC129993524, LOC129993525, LOC129993526, LOC129993527, LOC132089005, LOC132089006, LOC132089007, LOC132089008, LOC132089009, LOC132089010, LOC132089011, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132089042, LOC132089043, LOC132089044, LOC132089045, LOC132089046, LOC132089047, LOC132089048, LOC132089049, LOC132089050, LOC132089051, LOC132089052, LOC132089053, LOC132089054, LOC132089055, LOC132089056, LOC132089057, LOC132089058, LOC132089059, LOC132089060, LOC132089061, LOC132089062, LOC132089063, LOC132089064, LOC132089065, LOC132089066, LOC132089067, LOC132089068, LOC132089069, LOC132089070, LOC132089071, LOC132089072, LOC132089073, LOC132089074, LOC132089076, LOC132089077, LOC132089078, LOC132089079, LOC132089080, LOC132089081, LOC132089082, LOC132089083, LOC132089084, LOC132089085, LOC132089086, LOC132089087, LOC132089088, LOC132089089, LOC132089090, LOC132089091, LOC132089092, LOC132089093, LOC132089094, LOC132089095, LOC132089096, LOC132089097, LOC132089098, LOC132089099, LOC132089100, LOC132089101, LOC132089102, LOC132089103, LOC132089104, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, LOC132090715, LOC132090716, LOC132090717, LOC132090718, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAD2L1, MAD2L1-DT, MAML3, MAP9, MAP9-AS1, MARCHF1, METTL14, METTL14-DT, MFAP3L, MFSD8, MGARP, MGAT4D, MGST2, MIR1305, MIR2054, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, MYOZ2, NAA15, NAF1, NDNF, NDNF-AS1, NDST3, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, NUDT6, OTUD4, PABPC4L, PALLD, PCDH10, PCDH10-DT, PCDH18, PDE5A, PDGFC, PDLIM3, PGRMC2, PLK4, PLRG1, POU4F2, PP12613, PPID, PRDM5, PRIMPOL, PRMT9, PRSS12, PRSS48, QKILA, QRFPR, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCLT1, SCOC, SCOC-AS1, SCRG1, SEC24D, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A31, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SMIM43, SNHG27, SNHG8, SNORA24, SNORD73A, SNORD73B, SNX25, SORBS2, SORBS2-AS1, SPATA4, SPCS3, SPCS3-AS1, SPMIP2, SPOCK3, SPRY1, STOX2, SYNPO2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, TMEM192, TNIP3, TRAPPC11, TRC-GCA2-1, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TRPC3, TTC29, UCP1, UFSP2, USP38, USP38-DT, USP53, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:122439378-190828225
- GRCh38:
- Chr4:121518223-190062270
| LOC132089056, LOC132089057, LOC132089058, LOC132089059, LOC132089060, LOC132089061, LOC132089062, LOC132089063, LOC132089064, LOC132089065, LOC132089066, LOC132089067, LOC132089068, LOC132089069, LOC132089070, LOC132089071, LOC132089072, LOC132089073, LOC132089074, LOC132089076, LOC132089077, LOC132089078, LOC132089079, LOC132089080, LOC132089081, LOC132089082, LOC132089083, LOC132089084, LOC132089085, LOC132089086, LOC132089087, LOC132089088, LOC132089089, LOC132089090, LOC132089091, LOC132089092, LOC132089093, LOC132089094, LOC132089095, LOC132089096, LOC132089097, LOC132089098, LOC132089099, LOC132089100, LOC132089101, LOC132089102, LOC132089103, LOC132089104, LOC132089105, LOC132089106, LOC132089107, LOC132089108, LOC132089109, LOC132089110, LOC132090710, LOC132090711, LOC132090712, LOC132090713, LOC132090714, LOC132090715, LOC132090716, LOC132090717, LOC132090718, LOC339975, LOC441052, LOC729558, LOC729870, LRAT, LRBA, LRP2BP, LSM6, MAB21L2, MAML3, MAP9, MAP9-AS1, MARCHF1, MFAP3L, MFSD8, MGARP, MGAT4D, MGST2, MIR1305, MIR2054, MIR3139, MIR3140, MIR3688-1, MIR3688-2, MIR3945, MIR3945HG, MIR4276, MIR4453, MIR4453HG, MIR4454, MIR4455, MIR4799, MIR548G, MIR548T, MIR578, MIR6082, MIR7849, MMAA, MND1, MSMO1, MTNR1A, NAA15, NAF1, NDUFC1, NEIL3, NEK1, NOCT, NPY1R, NPY2R, NPY5R, NR3C2, NUDT6, OTUD4, PABPC4L, PALLD, PCDH10, PCDH10-DT, PCDH18, PDGFC, PDLIM3, PGRMC2, PLK4, PLRG1, POU4F2, PP12613, PPID, PRIMPOL, PRMT9, PRSS48, QKILA, RAB33B, RAB33B-AS1, RAPGEF2, RBM46, REELD1, RNF150, RNF175, RPS3A, RWDD4, RXFP1, SAP30, SAP30-DT, SCLT1, SCOC, SCOC-AS1, SCRG1, SETD7, SFRP2, SH3D19, SH3RF1, SLC10A7, SLC25A31, SLC25A4, SLC7A11, SLC7A11-AS1, SMAD1, SMAD1-AS1, SMAD1-AS2, SMARCA5, SMARCA5-AS1, SMIM31, SMIM43, SNHG27, SNORD73A, SNORD73B, SNX25, SORBS2, SORBS2-AS1, SPATA4, SPCS3, SPCS3-AS1, SPMIP2, SPOCK3, SPRY1, STOX2, TBC1D9, TDO2, TENM3, TENM3-AS1, TENM3-AS2, TIGD4, TKTL2, TLL1, TLR2, TLR3, TMA16, TMEM131L, TMEM144, TMEM154, TMEM184C, TMEM184C-DT, TMEM192, TRAPPC11, TRC-GCA2-1, TRIM2, TRIM60, TRIM61, TRIM75, TRIML1, TRIML2, TRPC3, TTC29, UCP1, UFSP2, USP38, USP38-DT, VEGFC, WDR17, WWC2, WWC2-AS1, WWC2-AS2, ZFP42, ZNF330, ZNF827, LOC129993068, LOC129993069, LOC129993070, LOC129993071, LOC129993072, LOC129993073, LOC129993074, LOC129993075, LOC129993076, LOC129993077, LOC129993078, LOC129993079, LOC129993080, LOC129993081, LOC129993082, LOC129993083, LOC129993084, LOC129993085, LOC129993086, LOC129993087, LOC129993088, LOC129993089, LOC129993090, LOC129993091, LOC129993092, LOC129993093, LOC129993094, LOC129993095, LOC129993096, LOC129993097, LOC129993098, LOC129993099, LOC129993100, LOC129993101, LOC129993102, LOC129993103, LOC129993104, LOC129993105, LOC129993106, LOC129993107, LOC129993108, LOC129993109, LOC129993110, LOC129993111, LOC129993112, LOC129993113, LOC129993114, LOC129993115, LOC129993116, LOC129993117, LOC129993118, LOC129993119, LOC129993120, LOC129993121, LOC129993122, LOC129993123, LOC129993124, LOC129993125, LOC129993126, LOC129993127, LOC129993128, LOC129993129, LOC129993130, LOC129993131, LOC129993132, LOC129993133, LOC129993134, LOC129993135, LOC129993136, LOC129993137, LOC129993138, LOC129993139, LOC129993140, LOC129993141, LOC129993142, LOC129993143, LOC129993144, LOC129993145, LOC129993146, LOC129993147, LOC129993148, LOC129993149, LOC129993150, LOC129993151, LOC129993152, LOC129993153, LOC129993154, LOC129993155, LOC129993156, LOC129993157, LOC129993158, LOC129993159, LOC129993160, LOC129993161, LOC129993162, LOC129993163, LOC129993164, LOC129993165, LOC129993166, LOC129993167, LOC129993168, LOC129993169, LOC129993170, LOC129993171, LOC129993172, LOC129993173, LOC129993174, LOC129993175, LOC129993176, LOC129993177, LOC129993178, LOC129993179, LOC129993180, LOC129993181, LOC129993182, LOC129993183, LOC129993184, LOC129993185, LOC129993186, LOC129993187, LOC129993188, LOC129993189, LOC129993190, LOC129993191, LOC129993192, LOC129993193, LOC129993194, LOC129993195, LOC129993196, LOC129993197, LOC129993198, LOC129993199, LOC129993200, LOC129993201, LOC129993202, LOC129993203, LOC129993204, LOC129993205, LOC129993206, LOC129993207, LOC129993208, LOC129993209, LOC129993210, LOC129993211, LOC129993212, LOC129993213, LOC129993214, LOC129993215, LOC129993216, LOC129993217, LOC129993218, LOC129993219, LOC129993220, LOC129993221, LOC129993222, LOC129993223, LOC129993224, LOC129993225, LOC129993226, LOC129993227, LOC129993228, LOC129993229, LOC129993230, LOC129993231, LOC129993232, LOC129993233, LOC129993234, LOC129993235, LOC129993236, LOC129993237, LOC129993238, LOC129993239, LOC129993240, LOC129993241, LOC129993242, LOC129993243, LOC129993244, LOC129993245, LOC129993246, LOC129993247, LOC129993248, LOC129993249, LOC129993250, LOC129993251, LOC129993252, LOC129993253, LOC129993254, LOC129993255, LOC129993256, LOC129993257, LOC129993258, LOC129993259, LOC129993260, LOC129993261, LOC129993262, LOC129993263, LOC129993264, LOC129993265, LOC129993266, LOC129993267, LOC129993268, LOC129993269, LOC129993270, LOC129993271, LOC129993272, LOC129993273, LOC129993274, LOC129993275, LOC129993276, LOC129993277, LOC129993278, LOC129993279, LOC129993280, LOC129993281, LOC129993282, LOC129993283, LOC129993284, LOC129993285, LOC129993286, LOC129993287, LOC129993288, LOC129993289, LOC129993290, LOC129993291, LOC129993292, LOC129993293, LOC129993294, LOC129993295, LOC129993296, LOC129993297, LOC129993298, LOC129993299, LOC129993300, LOC129993301, LOC129993302, LOC129993303, LOC129993304, LOC129993305, LOC129993306, LOC129993307, LOC129993308, LOC129993309, LOC129993310, LOC129993311, LOC129993312, LOC129993313, LOC129993314, LOC129993315, LOC129993316, LOC129993317, LOC129993318, LOC129993319, LOC129993320, LOC129993321, LOC129993322, LOC129993323, LOC129993324, LOC129993325, LOC129993326, LOC129993327, LOC129993328, LOC129993329, LOC129993330, LOC129993331, LOC129993332, LOC129993333, LOC129993334, LOC129993335, LOC129993336, LOC129993337, LOC129993338, LOC129993339, LOC129993340, LOC129993341, LOC129993342, LOC129993343, LOC129993344, LOC129993345, LOC129993346, LOC129993347, LOC129993348, LOC129993349, LOC129993350, LOC129993351, LOC129993352, LOC129993353, LOC129993354, LOC129993355, LOC129993356, LOC129993357, LOC129993358, LOC129993359, LOC129993360, LOC129993361, LOC129993362, LOC129993363, LOC129993364, LOC129993365, LOC129993366, LOC129993367, LOC129993368, LOC129993369, LOC129993370, LOC129993371, LOC129993372, LOC129993373, LOC129993374, LOC129993375, LOC129993376, LOC129993377, LOC129993378, LOC129993379, LOC129993380, LOC129993381, LOC129993382, LOC129993383, LOC129993384, LOC129993385, LOC129993386, LOC129993387, LOC129993388, LOC129993389, LOC129993390, LOC129993391, LOC129993392, LOC129993393, LOC129993394, LOC129993395, LOC129993396, LOC129993397, LOC129993398, LOC129993399, LOC129993400, LOC129993401, LOC129993402, LOC129993403, LOC129993404, LOC129993405, LOC129993406, LOC129993407, LOC129993408, LOC129993409, LOC129993410, LOC129993411, LOC129993412, LOC129993413, LOC129993414, LOC129993415, LOC129993416, LOC129993417, LOC129993418, LOC129993419, LOC129993420, LOC129993421, LOC129993422, LOC129993423, LOC129993424, LOC129993425, LOC129993426, LOC129993427, LOC129993428, LOC129993429, LOC129993430, LOC129993431, LOC129993432, LOC129993433, LOC129993434, LOC129993435, LOC129993436, LOC129993437, LOC129993438, LOC129993439, LOC129993440, LOC129993441, LOC129993442, LOC129993443, LOC129993444, LOC129993445, LOC129993446, LOC129993447, LOC129993448, LOC129993449, LOC129993450, LOC129993451, LOC129993452, LOC129993453, LOC129993454, LOC129993455, LOC129993456, LOC129993457, LOC129993458, LOC129993459, LOC129993460, LOC129993461, LOC129993462, LOC129993463, LOC129993464, LOC129993465, LOC129993466, LOC129993467, LOC129993468, LOC129993469, LOC129993470, LOC129993471, LOC129993472, LOC129993473, LOC129993474, LOC129993475, LOC129993476, LOC129993477, LOC129993478, LOC129993479, LOC129993480, LOC129993481, LOC129993482, LOC129993483, LOC129993484, LOC129993485, LOC129993486, LOC129993487, LOC129993488, LOC129993489, LOC129993490, LOC129993491, LOC129993492, LOC129993493, LOC129993494, LOC129993495, LOC129993496, LOC129993497, LOC129993498, LOC129993499, LOC129993500, LOC129993501, LOC129993502, LOC129993503, LOC129993504, LOC129993505, LOC129993506, LOC129993507, LOC129993508, LOC129993509, LOC129993510, LOC129993511, LOC129993512, LOC129993513, LOC129993514, LOC129993515, LOC129993516, LOC129993517, LOC129993518, LOC129993519, LOC129993520, LOC129993521, LOC129993522, LOC129993523, LOC129993524, LOC129993525, LOC129993526, LOC129993527, LOC132089012, LOC132089013, LOC132089014, LOC132089015, LOC132089016, LOC132089017, LOC132089018, LOC132089019, LOC132089020, LOC132089021, LOC132089022, LOC132089023, LOC132089024, LOC132089025, LOC132089026, LOC132089027, LOC132089028, LOC132089029, LOC132089030, LOC132089031, LOC132089032, LOC132089033, LOC132089034, LOC132089035, LOC132089036, LOC132089037, LOC132089038, LOC132089039, LOC132089040, LOC132089041, LOC132089042, LOC132089043, LOC132089044, LOC132089045, LOC132089046, LOC132089047, LOC132089048, LOC132089049, LOC132089050, LOC132089051, LOC132089052, LOC132089053, LOC132089054, LOC132089055, ANAPC10, ANKRD37, ANKRD50, ANP32C, ANXA10, ANXA5, APELA, ARFIP1, ARHGAP10, ASB5, ASIC5, BBS12, BBS7, BBS7-DT, BLTP1, C4orf33, C4orf46, C4orf51, CASP3, CBR4, CBR4-DT, CCDC110, CCNA2, CDKN2AIP, CENPU, CEP44, CFAP96, CFAP97, CLCN3, CLDN22, CLDN24, CLGN, CPE, CTSO, CYP4V2, DCHS2, DCLK2, DCTD, DDX60, DDX60L, EDNRA, ELF2, ELMOD2, ENPP6, ETFDH, EXOSC9, F11, F11-AS1, FAM149A, FAM218A, FAT1, FAT4, FBXO8, FBXW7, FBXW7-AS1, FGA, FGB, FGF2, FGG, FHDC1, FHIP1A, FHIP1A-DT, FLJ38576, FNIP2, FREM3, FRG1, FRG1-DT, FRG2, FSTL5, GAB1, GALNT7, GALNT7-DT, GALNTL6, GALNTL6-AS1, GASK1B, GASK1B-AS1, GATB, GK3, GLRA3, GLRB, GPM6A, GPM6A-DT, GRIA2, GUCY1A1, GUCY1B1, GYPA, GYPB, GYPE, HAFML, HAND2, HAND2-AS1, HELT, HHIP, HHIP-AS1, HMGB2, HPF1, HPGD, HSPA4L, IL15, IL2, IL21, IL21-AS1, ING2, ING2-DT, INPP4B, INTU, IQCM, IRF2, IRF2-DT, JADE1, KLHL2, KLKB1, LARP1B, LINC00290, LINC00498, LINC00499, LINC00613, LINC00616, LINC01060, LINC01091, LINC01093, LINC01095, LINC01098, LINC01099, LINC01179, LINC01256, LINC01262, LINC01596, LINC01612, LINC02172, LINC02174, LINC02233, LINC02266, LINC02268, LINC02269, LINC02273, LINC02275, LINC02276, LINC02355, LINC02362, LINC02363, LINC02365, LINC02374, LINC02377, LINC02379, LINC02382, LINC02427, LINC02431, LINC02432, LINC02433, LINC02434, LINC02436, LINC02462, LINC02465, LINC02466, LINC02479, LINC02485, LINC02491, LINC02492, LINC02500, LINC02504, LINC02507, LINC02508, LINC02509, LINC02510, LINC02511, LINC02514, LINC02515, LINC02516, LINC02615, LINC03074, LOC101927259, LOC101927414, LOC101927516, LOC101927636, LOC101928052, LOC101928131, LOC101928198, LOC101928551, LOC101930028, LOC102724700, LOC105377438, LOC105377448, LOC105377458, LOC105377468, LOC105377473, LOC105377480, LOC105377488, LOC105377490, LOC105377500, LOC105377502, LOC105377543, LOC105377590, LOC105377603, LOC105377622, LOC107992388, LOC108281188, LOC108281192, LOC109113863, LOC110120796, LOC110120799, LOC110121078, LOC110121089, LOC110121129, LOC110121150, LOC110121159, LOC110121190, LOC110121259, LOC111413027, LOC111413048, LOC111556115, LOC112935978, LOC112935979, LOC112935980, LOC112939918, LOC112939919, LOC112939920, LOC112939921, LOC112939922, LOC112939923, LOC112939926, LOC112939927, LOC114004384, LOC114827822, LOC114827833, LOC114827834, LOC116158507, LOC116158508, LOC116158509, LOC116158510, LOC121056742, LOC121056743, LOC121056744, LOC121056745, LOC121056746, LOC121056747, LOC121056748, LOC121056749, LOC121056750, LOC121056751, LOC121056752, LOC121056753, LOC121056754, LOC121056755, LOC121725185, LOC121725186, LOC121725187, LOC121725188, LOC121725189, LOC121725190, LOC121725191, LOC121725192, LOC121725193, LOC121725194, LOC121725195, LOC121725196, LOC123480922, LOC123480923, LOC123480924, LOC123480925, LOC123480926, LOC123480927, LOC123480928, LOC123480929, LOC123480930, LOC123480931, LOC123480932, LOC123480933, LOC123480934, LOC123480935, LOC123480936, LOC123480937, LOC123480938, LOC123480939, LOC123480940, LOC123480941, LOC123480942, LOC123480943, LOC123480944, LOC123480945, LOC123493216, LOC123493217, LOC123493218, LOC123493219, LOC123493220, LOC123493221, LOC123493222, LOC123493223, LOC123493224, LOC123493225, LOC123493226, LOC123493227, LOC123493228, LOC123493229, LOC123493230, LOC123493231, LOC123493232, LOC123493233, LOC123493234, LOC123493235, LOC123493236, LOC123493237, LOC123493238, LOC123493239, LOC123493240, LOC123493241, LOC123493242, LOC123493243, LOC123493244, LOC123493245, LOC123493246, LOC123493247, LOC123493248, LOC123493249, LOC123493250, LOC123493251, LOC123493252, LOC123493253, LOC123493254, LOC123493255, LOC126088085, LOC126807144, LOC126807145, LOC126807146, LOC126807147, LOC126807148, LOC126807149, LOC126807150, LOC126807151, LOC126807152, LOC126807153, LOC126807154, LOC126807155, LOC126807156, LOC126807157, LOC126807158, LOC126807159, LOC126807160, LOC126807161, LOC126807162, LOC126807163, LOC126807164, LOC126807165, LOC126807166, LOC126807167, LOC126807168, LOC126807169, LOC126807170, LOC126807171, LOC126807172, LOC126807173, LOC126807174, LOC126807175, LOC126807176, LOC126807177, LOC126807178, LOC126807179, LOC126807180, LOC126807181, LOC126807182, LOC126807183, LOC126807184, LOC126807185, LOC126807186, LOC126807187, LOC126807188, LOC126807189, LOC126807190, LOC126807191, LOC126807192, LOC126807193, LOC126807194, LOC126807195, LOC126807196, LOC126807197, LOC126807198, LOC126807199, LOC126807200, LOC126807201, LOC126807202, LOC126807203, LOC126807204, LOC126807205, LOC126807206, LOC126807207, LOC126807208, LOC126807209, LOC126807210, LOC126807211, LOC126807212, LOC126807213, LOC126807214, LOC126807215, LOC126807216, LOC126807217, LOC126807218, LOC126807219, LOC126807220, LOC126807221, LOC126807222, LOC126807223, LOC126807224, LOC126807225, LOC126807226, LOC126807227, LOC126807228, LOC126807229, LOC126807230, LOC126807231, LOC126807232, LOC126807233, LOC126807234, LOC126807235, LOC126807236, LOC126807237, LOC126807238, LOC126807239, LOC126807240, LOC126807241, LOC126807242, LOC126807243, LOC126807244, LOC126807245, LOC126807246, LOC126807247, LOC126807248, LOC126807249, LOC126807250, LOC126807251, LOC126807252, LOC126807253, LOC126807254, LOC126807255, LOC126807256, LOC126807257, LOC126807258, LOC126807259, LOC126807260, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC126807272, LOC126807273, LOC126807274, LOC126807275, LOC126807276, LOC126807277, LOC126807278, LOC126807279, LOC127898556, LOC127898557, LOC129389233, LOC129389234, LOC129389235, LOC129389236, LOC129389237, LOC129389238, LOC129389239, LOC129389240, LOC129389241, LOC129389242, LOC129389243, LOC129389244, LOC129389245, LOC129389246, LOC129389247, LOC129389248, LOC129389249, LOC129389250, LOC129389251, LOC129389252, LOC129389253, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC129993041, LOC129993042, LOC129993043, LOC129993044, LOC129993045, LOC129993046, LOC129993047, LOC129993048, LOC129993049, LOC129993050, LOC129993051, LOC129993052, LOC129993053, LOC129993054, LOC129993055, LOC129993056, LOC129993057, LOC129993058, LOC129993059, LOC129993060, LOC129993061, LOC129993062, LOC129993063, LOC129993064, LOC129993065, LOC129993066, LOC129993067, AADAT, ABCE1, ABHD18, ACSL1, ADAD1, ADAM29, AFG2A, AGA, AGA-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:122557302-123248756
- GRCh38:
- Chr4:121636147-122327601
| ANXA5, BBS7, BBS7-DT, BLTP1, CCNA2, EXOSC9, LOC112935978, LOC121056742, LOC126807144, LOC126807145, LOC129993031, LOC129993032, LOC129993033, LOC129993034, LOC129993035, LOC129993036, LOC129993037, LOC129993038, LOC129993039, LOC129993040, LOC132089012, PP12613, SMIM43, TRPC3 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123091678
- GRCh38:
- Chr4:122170523
| BLTP1 | | not provided | Benign (May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123094017
- GRCh38:
- Chr4:122172862
| BLTP1 | | not provided | Benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123094236
- GRCh38:
- Chr4:122173081
| BLTP1 | N48T | Inborn genetic diseases | Uncertain significance (Aug 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123094241
- GRCh38:
- Chr4:122173086
| BLTP1 | R50W | not provided, Alkuraya-Kucinskas syndrome | Uncertain significance (Aug 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:123094315
- GRCh38:
- Chr4:122173160
| BLTP1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123095529
- GRCh38:
- Chr4:122174374
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123095703
- GRCh38:
- Chr4:122174548
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123095761
- GRCh38:
- Chr4:122174606
| BLTP1 | V83fs | not provided | Pathogenic (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123095797
- GRCh38:
- Chr4:122174642
| BLTP1 | M95V | not specified | Uncertain significance (Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123095889
- GRCh38:
- Chr4:122174734
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123096838
- GRCh38:
- Chr4:122175683
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123097050
- GRCh38:
- Chr4:122175895
| BLTP1 | N113K | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123107260
- GRCh38:
- Chr4:122186105
| BLTP1 | D143G | Inborn genetic diseases | Uncertain significance (Apr 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123107271
- GRCh38:
- Chr4:122186116
| BLTP1 | R147C | Alkuraya-Kucinskas syndrome | Uncertain significance (Dec 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123107337
- GRCh38:
- Chr4:122186182
| BLTP1 | R169W | not provided | Uncertain significance (Oct 16, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123108615
- GRCh38:
- Chr4:122187460
| BLTP1 | P192R | not provided, Alkuraya-Kucinskas syndrome | Conflicting interpretations of pathogenicity (Oct 19, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:123108653
- GRCh38:
- Chr4:122187498
| BLTP1 | V205I | not provided | Uncertain significance (Nov 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123108762
- GRCh38:
- Chr4:122187607
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109019
- GRCh38:
- Chr4:122187864
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109035
- GRCh38:
- Chr4:122187880
| BLTP1 | | not provided | Benign (Aug 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109070
- GRCh38:
- Chr4:122187915
| BLTP1 | N216K | not provided | Uncertain significance (Jul 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109082
- GRCh38:
- Chr4:122187927
| BLTP1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109105
- GRCh38:
- Chr4:122187950
| BLTP1 | D228G | not provided | Uncertain significance (Jul 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109112
- GRCh38:
- Chr4:122187957
| BLTP1 | F231fs | Severe hydrocephalus, Talipes equinovarus, Arthrogryposis multiplex congenita
| Likely pathogenic (Oct 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109194
- GRCh38:
- Chr4:122188039
| BLTP1 | R258* | Alkuraya-Kucinskas syndrome | Likely pathogenic (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109215
- GRCh38:
- Chr4:122188060
| BLTP1 | P265S | not provided | Uncertain significance (Aug 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123109335
- GRCh38:
- Chr4:122188180
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123110956
- GRCh38:
- Chr4:122189801
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123111152
- GRCh38:
- Chr4:122189997
| BLTP1 | | Alkuraya-Kucinskas syndrome | Uncertain significance (Sep 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123111282-123111283
- GRCh38:
- Chr4:122190127-122190128
| BLTP1 | | Alkuraya-Kucinskas syndrome | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123111354
- GRCh38:
- Chr4:122190199
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113352
- GRCh38:
- Chr4:122192197
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113386
- GRCh38:
- Chr4:122192231
| BLTP1 | L302F | Inborn genetic diseases | Uncertain significance (Aug 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113393
- GRCh38:
- Chr4:122192238
| BLTP1 | P304L | not provided | Uncertain significance (May 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113394
- GRCh38:
- Chr4:122192239
| BLTP1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113426
- GRCh38:
- Chr4:122192271
| BLTP1 | M315R | not provided | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113428
- GRCh38:
- Chr4:122192273
| BLTP1 | S316G | not provided | Benign (May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123113478-123113479
- GRCh38:
- Chr4:122192323-122192324
| BLTP1 | I333fs | not provided | Pathogenic (Jan 29, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123117729
- GRCh38:
- Chr4:122196574
| BLTP1 | | not provided | Benign (May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123117825
- GRCh38:
- Chr4:122196670
| BLTP1 | Y363C | Inborn genetic diseases | Uncertain significance (May 18, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123117860
- GRCh38:
- Chr4:122196705
| BLTP1 | G375R | not provided | Uncertain significance (May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123117893
- GRCh38:
- Chr4:122196738
| BLTP1 | R386* | Alkuraya-Kucinskas syndrome | Likely pathogenic (Jan 15, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123117919
- GRCh38:
- Chr4:122196764
| BLTP1 | I395fs | Alkuraya-Kucinskas syndrome | Uncertain significance (Sep 26, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr4:123117955
- GRCh38:
- Chr4:122196800
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123118411
- GRCh38:
- Chr4:122197256
| BLTP1 | M424V | not provided | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123118413
- GRCh38:
- Chr4:122197258
| BLTP1 | M424I | Inborn genetic diseases | Uncertain significance (Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123120395
- GRCh38:
- Chr4:122199240
| BLTP1 | | not provided | Benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123120522
- GRCh38:
- Chr4:122199367
| BLTP1 | P433A | Alkuraya-Kucinskas syndrome | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:123120535
- GRCh38:
- Chr4:122199380
| BLTP1 | G437E | Alkuraya-Kucinskas syndrome | Likely pathogenic (Jun 9, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr4:123120614
- GRCh38:
- Chr4:122199459
| BLTP1 | | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123121739
- GRCh38:
- Chr4:122200584
| BLTP1 | | not provided | Uncertain significance (Nov 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123122147-123122151
- GRCh38:
- Chr4:122200992-122200996
| BLTP1 | | not provided | Benign (May 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123122162
- GRCh38:
- Chr4:122201007
| BLTP1 | | Alkuraya-Kucinskas syndrome | Likely pathogenic (Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123122193
- GRCh38:
- Chr4:122201038
| BLTP1 | I470M | Inborn genetic diseases | Uncertain significance (Apr 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123122285
- GRCh38:
- Chr4:122201130
| BLTP1 | | not provided | Uncertain significance (Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123122377
- GRCh38:
- Chr4:122201222
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123122440
- GRCh38:
- Chr4:122201285
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128320
- GRCh38:
- Chr4:122207165
| BLTP1 | | not provided | Likely benign (Sep 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128323
- GRCh38:
- Chr4:122207168
| BLTP1 | Y519* | Alkuraya-Kucinskas syndrome, Pleural effusion, Hydrocephalus, Dandy-Walker syndrome, Micrognathia, Flexed deformity, Talipes equinovarus | Pathogenic/Likely pathogenic (Jan 13, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:123128340
- GRCh38:
- Chr4:122207185
| BLTP1 | I525T | not provided | Uncertain significance (May 22, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128579
- GRCh38:
- Chr4:122207424
| BLTP1 | | not provided | Benign (May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128687
- GRCh38:
- Chr4:122207532
| BLTP1 | | not provided | Benign (May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128687
- GRCh38:
- Chr4:122207532
| BLTP1 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128692
- GRCh38:
- Chr4:122207537
| BLTP1 | | not provided | Benign (May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128705
- GRCh38:
- Chr4:122207550
| BLTP1 | A555V | not provided | Uncertain significance (Jul 31, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128750
- GRCh38:
- Chr4:122207595
| BLTP1 | T570M | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128843
- GRCh38:
- Chr4:122207688
| BLTP1 | | not provided | Benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123128901
- GRCh38:
- Chr4:122207746
| BLTP1 | | not provided | Benign (May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123130141-123130142
- GRCh38:
- Chr4:122208986-122208987
| BLTP1 | | not provided | Benign (May 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123130141
- GRCh38:
- Chr4:122208986
| BLTP1 | | not provided | Benign (May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123130347
- GRCh38:
- Chr4:122209192
| BLTP1 | D596N | not provided | Uncertain significance (May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123130479
- GRCh38:
- Chr4:122209324
| BLTP1 | V640I | not provided | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123130886
- GRCh38:
- Chr4:122209731
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123130998
- GRCh38:
- Chr4:122209843
| BLTP1 | V653F | Alkuraya-Kucinskas syndrome | Uncertain significance (Sep 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123131055
- GRCh38:
- Chr4:122209900
| BLTP1 | A672S | not provided | Uncertain significance (Jan 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123131248
- GRCh38:
- Chr4:122210093
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123132174
- GRCh38:
- Chr4:122211019
| BLTP1 | H724R | Alkuraya-Kucinskas syndrome | Uncertain significance (Sep 19, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123132209-123132210
- GRCh38:
- Chr4:122211054-122211055
| BLTP1 | | Alkuraya-Kucinskas syndrome | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123140555
- GRCh38:
- Chr4:122219400
| BLTP1 | V770I | Alkuraya-Kucinskas syndrome | Uncertain significance (Oct 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123140602
- GRCh38:
- Chr4:122219447
| BLTP1 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123140651
- GRCh38:
- Chr4:122219496
| BLTP1 | P802A | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123140678
- GRCh38:
- Chr4:122219523
| BLTP1 | T811A | Alkuraya-Kucinskas syndrome | Likely pathogenic (Feb 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123140739
- GRCh38:
- Chr4:122219584
| BLTP1 | | Alkuraya-Kucinskas syndrome, not provided | Benign (Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:123141608
- GRCh38:
- Chr4:122220453
| BLTP1 | V866I | not provided | Uncertain significance (Aug 3, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123145657
- GRCh38:
- Chr4:122224502
| BLTP1 | R873Q | Inborn genetic diseases | Uncertain significance (Jan 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123145751
- GRCh38:
- Chr4:122224596
| BLTP1 | | Alkuraya-Kucinskas syndrome, not provided | Benign (Aug 19, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:123145769
- GRCh38:
- Chr4:122224614
| BLTP1 | L910F | Inborn genetic diseases | Uncertain significance (Jun 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123145775
- GRCh38:
- Chr4:122224620
| BLTP1 | | not provided | Likely benign (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123145822
- GRCh38:
- Chr4:122224667
| BLTP1 | T928I | Alkuraya-Kucinskas syndrome | Uncertain significance (Nov 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123147970
- GRCh38:
- Chr4:122226815
| BLTP1 | R968C | not provided | Likely pathogenic (Aug 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123148138
- GRCh38:
- Chr4:122226983
| BLTP1 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123150286
- GRCh38:
- Chr4:122229131
| BLTP1 | I978T | not provided | Benign (May 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123150288
- GRCh38:
- Chr4:122229133
| BLTP1 | P979S | not provided | Uncertain significance (Nov 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:123150327
- GRCh38:
- Chr4:122229172
| BLTP1 | M992V | Inborn genetic diseases | Uncertain significance (Apr 19, 2023) | criteria provided, single submitter |