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Items: 1 to 100 of 344

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Jan 28, 2013)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr4:122557302-123248756
GRCh38:
Chr4:121636147-122327601
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr4:123091678
GRCh38:
Chr4:122170523
BLTP1not providedBenign
(May 14, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr4:123094017
GRCh38:
Chr4:122172862
BLTP1not providedBenign
(May 13, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr4:123094236
GRCh38:
Chr4:122173081
BLTP1N48TInborn genetic diseasesUncertain significance
(Aug 2, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr4:123094241
GRCh38:
Chr4:122173086
BLTP1R50Wnot provided, Alkuraya-Kucinskas syndromeUncertain significance
(Aug 26, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr4:123094315
GRCh38:
Chr4:122173160
BLTP1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr4:123095529
GRCh38:
Chr4:122174374
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr4:123095703
GRCh38:
Chr4:122174548
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr4:123095761
GRCh38:
Chr4:122174606
BLTP1V83fsnot providedPathogenic
(May 7, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr4:123095797
GRCh38:
Chr4:122174642
BLTP1M95Vnot specifiedUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr4:123095889
GRCh38:
Chr4:122174734
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr4:123096838
GRCh38:
Chr4:122175683
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr4:123097050
GRCh38:
Chr4:122175895
BLTP1N113KInborn genetic diseasesUncertain significance
(Aug 28, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr4:123107260
GRCh38:
Chr4:122186105
BLTP1D143GInborn genetic diseasesUncertain significance
(Apr 12, 2023)
criteria provided, single submitter
20.
GRCh37:
Chr4:123107271
GRCh38:
Chr4:122186116
BLTP1R147CAlkuraya-Kucinskas syndromeUncertain significance
(Dec 18, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr4:123107337
GRCh38:
Chr4:122186182
BLTP1R169Wnot providedUncertain significance
(Oct 16, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr4:123108615
GRCh38:
Chr4:122187460
BLTP1P192Rnot provided, Alkuraya-Kucinskas syndromeConflicting interpretations of pathogenicity
(Oct 19, 2020)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr4:123108653
GRCh38:
Chr4:122187498
BLTP1V205Inot providedUncertain significance
(Nov 14, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr4:123108762
GRCh38:
Chr4:122187607
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr4:123109019
GRCh38:
Chr4:122187864
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr4:123109035
GRCh38:
Chr4:122187880
BLTP1not providedBenign
(Aug 19, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr4:123109070
GRCh38:
Chr4:122187915
BLTP1N216Knot providedUncertain significance
(Jul 7, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr4:123109082
GRCh38:
Chr4:122187927
BLTP1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr4:123109105
GRCh38:
Chr4:122187950
BLTP1D228Gnot providedUncertain significance
(Jul 7, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr4:123109112
GRCh38:
Chr4:122187957
BLTP1F231fsSevere hydrocephalus, Talipes equinovarus, Arthrogryposis multiplex congenita
Likely pathogenic
(Oct 16, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr4:123109194
GRCh38:
Chr4:122188039
BLTP1R258*Alkuraya-Kucinskas syndromeLikely pathogenic
(Apr 18, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr4:123109215
GRCh38:
Chr4:122188060
BLTP1P265Snot providedUncertain significance
(Aug 19, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr4:123109335
GRCh38:
Chr4:122188180
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr4:123110956
GRCh38:
Chr4:122189801
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr4:123111152
GRCh38:
Chr4:122189997
BLTP1Alkuraya-Kucinskas syndromeUncertain significance
(Sep 7, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr4:123111282-123111283
GRCh38:
Chr4:122190127-122190128
BLTP1Alkuraya-Kucinskas syndromeUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr4:123111354
GRCh38:
Chr4:122190199
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr4:123113352
GRCh38:
Chr4:122192197
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr4:123113386
GRCh38:
Chr4:122192231
BLTP1L302FInborn genetic diseasesUncertain significance
(Aug 2, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr4:123113393
GRCh38:
Chr4:122192238
BLTP1P304Lnot providedUncertain significance
(May 2, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr4:123113394
GRCh38:
Chr4:122192239
BLTP1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr4:123113426
GRCh38:
Chr4:122192271
BLTP1M315Rnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr4:123113428
GRCh38:
Chr4:122192273
BLTP1S316Gnot providedBenign
(May 4, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr4:123113478-123113479
GRCh38:
Chr4:122192323-122192324
BLTP1I333fsnot providedPathogenic
(Jan 29, 2016)
criteria provided, single submitter
45.
GRCh37:
Chr4:123117729
GRCh38:
Chr4:122196574
BLTP1not providedBenign
(May 14, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr4:123117825
GRCh38:
Chr4:122196670
BLTP1Y363CInborn genetic diseasesUncertain significance
(May 18, 2023)
criteria provided, single submitter
47.
GRCh37:
Chr4:123117860
GRCh38:
Chr4:122196705
BLTP1G375Rnot providedUncertain significance
(May 11, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr4:123117893
GRCh38:
Chr4:122196738
BLTP1R386*Alkuraya-Kucinskas syndromeLikely pathogenic
(Jan 15, 2020)
criteria provided, single submitter
49.
GRCh37:
Chr4:123117919
GRCh38:
Chr4:122196764
BLTP1I395fsAlkuraya-Kucinskas syndromeUncertain significance
(Sep 26, 2019)
no assertion criteria provided
50.
GRCh37:
Chr4:123117955
GRCh38:
Chr4:122196800
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr4:123118411
GRCh38:
Chr4:122197256
BLTP1M424Vnot providedUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr4:123118413
GRCh38:
Chr4:122197258
BLTP1M424IInborn genetic diseasesUncertain significance
(Apr 26, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr4:123120395
GRCh38:
Chr4:122199240
BLTP1not providedBenign
(May 13, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr4:123120522
GRCh38:
Chr4:122199367
BLTP1P433AAlkuraya-Kucinskas syndromeUncertain significanceno assertion criteria provided
55.
GRCh37:
Chr4:123120535
GRCh38:
Chr4:122199380
BLTP1G437EAlkuraya-Kucinskas syndromeLikely pathogenic
(Jun 9, 2023)
no assertion criteria provided
56.
GRCh37:
Chr4:123120614
GRCh38:
Chr4:122199459
BLTP1not providedBenign
(Jul 31, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr4:123121739
GRCh38:
Chr4:122200584
BLTP1not providedUncertain significance
(Nov 3, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr4:123122147-123122151
GRCh38:
Chr4:122200992-122200996
BLTP1not providedBenign
(May 5, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr4:123122162
GRCh38:
Chr4:122201007
BLTP1Alkuraya-Kucinskas syndromeLikely pathogenic
(Jun 20, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr4:123122193
GRCh38:
Chr4:122201038
BLTP1I470MInborn genetic diseasesUncertain significance
(Apr 5, 2023)
criteria provided, single submitter
61.
GRCh37:
Chr4:123122285
GRCh38:
Chr4:122201130
BLTP1not providedUncertain significance
(Aug 3, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr4:123122377
GRCh38:
Chr4:122201222
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr4:123122440
GRCh38:
Chr4:122201285
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr4:123128320
GRCh38:
Chr4:122207165
BLTP1not providedLikely benign
(Sep 1, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr4:123128323
GRCh38:
Chr4:122207168
BLTP1Y519*Alkuraya-Kucinskas syndrome, Pleural effusion, Hydrocephalus,
Dandy-Walker syndrome, Micrognathia, Flexed deformity,
Talipes equinovarus
Pathogenic/Likely pathogenic
(Jan 13, 2015)
no assertion criteria provided
66.
GRCh37:
Chr4:123128340
GRCh38:
Chr4:122207185
BLTP1I525Tnot providedUncertain significance
(May 22, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr4:123128579
GRCh38:
Chr4:122207424
BLTP1not providedBenign
(May 21, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr4:123128687
GRCh38:
Chr4:122207532
BLTP1not providedBenign
(May 4, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr4:123128687
GRCh38:
Chr4:122207532
BLTP1not providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr4:123128692
GRCh38:
Chr4:122207537
BLTP1not providedBenign
(May 4, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr4:123128705
GRCh38:
Chr4:122207550
BLTP1A555Vnot providedUncertain significance
(Jul 31, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr4:123128750
GRCh38:
Chr4:122207595
BLTP1T570MInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
73.
GRCh37:
Chr4:123128843
GRCh38:
Chr4:122207688
BLTP1not providedBenign
(May 13, 2021)
criteria provided, single submitter
74.
GRCh37:
Chr4:123128901
GRCh38:
Chr4:122207746
BLTP1not providedBenign
(May 14, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr4:123130141-123130142
GRCh38:
Chr4:122208986-122208987
BLTP1not providedBenign
(May 24, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr4:123130141
GRCh38:
Chr4:122208986
BLTP1not providedBenign
(May 21, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr4:123130347
GRCh38:
Chr4:122209192
BLTP1D596Nnot providedUncertain significance
(May 11, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr4:123130479
GRCh38:
Chr4:122209324
BLTP1V640Inot providedLikely benign
(May 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr4:123130886
GRCh38:
Chr4:122209731
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr4:123130998
GRCh38:
Chr4:122209843
BLTP1V653FAlkuraya-Kucinskas syndromeUncertain significance
(Sep 19, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr4:123131055
GRCh38:
Chr4:122209900
BLTP1A672Snot providedUncertain significance
(Jan 8, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr4:123131248
GRCh38:
Chr4:122210093
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr4:123132174
GRCh38:
Chr4:122211019
BLTP1H724RAlkuraya-Kucinskas syndromeUncertain significance
(Sep 19, 2023)
criteria provided, single submitter
84.
GRCh37:
Chr4:123132209-123132210
GRCh38:
Chr4:122211054-122211055
BLTP1Alkuraya-Kucinskas syndromeUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr4:123140555
GRCh38:
Chr4:122219400
BLTP1V770IAlkuraya-Kucinskas syndromeUncertain significance
(Oct 12, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr4:123140602
GRCh38:
Chr4:122219447
BLTP1not providedBenign
(Dec 31, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr4:123140651
GRCh38:
Chr4:122219496
BLTP1P802AInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
88.
GRCh37:
Chr4:123140678
GRCh38:
Chr4:122219523
BLTP1T811AAlkuraya-Kucinskas syndromeLikely pathogenic
(Feb 9, 2020)
criteria provided, single submitter
89.
GRCh37:
Chr4:123140739
GRCh38:
Chr4:122219584
BLTP1Alkuraya-Kucinskas syndrome, not providedBenign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr4:123141608
GRCh38:
Chr4:122220453
BLTP1V866Inot providedUncertain significance
(Aug 3, 2017)
criteria provided, single submitter
91.
GRCh37:
Chr4:123145657
GRCh38:
Chr4:122224502
BLTP1R873QInborn genetic diseasesUncertain significance
(Jan 5, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr4:123145751
GRCh38:
Chr4:122224596
BLTP1Alkuraya-Kucinskas syndrome, not providedBenign
(Aug 19, 2021)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr4:123145769
GRCh38:
Chr4:122224614
BLTP1L910FInborn genetic diseasesUncertain significance
(Jun 12, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr4:123145775
GRCh38:
Chr4:122224620
BLTP1not providedLikely benign
(Dec 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr4:123145822
GRCh38:
Chr4:122224667
BLTP1T928IAlkuraya-Kucinskas syndromeUncertain significance
(Nov 11, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr4:123147970
GRCh38:
Chr4:122226815
BLTP1R968Cnot providedLikely pathogenic
(Aug 16, 2023)
criteria provided, single submitter
97.
GRCh37:
Chr4:123148138
GRCh38:
Chr4:122226983
BLTP1not providedBenign
(May 12, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr4:123150286
GRCh38:
Chr4:122229131
BLTP1I978Tnot providedBenign
(May 4, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr4:123150288
GRCh38:
Chr4:122229133
BLTP1P979Snot providedUncertain significance
(Nov 5, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr4:123150327
GRCh38:
Chr4:122229172
BLTP1M992VInborn genetic diseasesUncertain significance
(Apr 19, 2023)
criteria provided, single submitter
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