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Items: 1 to 100 of 222

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:
Chr4:118707162-119447254
GRCh38:
Chr4:117786007-118526099
LINC02264, LOC126807142, LOC129993005, LOC129993006, LOC129993007, NDST3, PRSS12, SNHG8, SNORA24See casesLikely benign
(Jul 18, 2014)
no assertion criteria provided
5.
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
6.
GRCh37:
Chr4:119201226
GRCh38:
Chr4:118280071
PRSS12Intellectual disability, autosomal recessive 1Likely benign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr4:119201392
GRCh38:
Chr4:118280237
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr4:119201431
GRCh38:
Chr4:118280276
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr4:119201476
GRCh38:
Chr4:118280321
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr4:119201496
GRCh38:
Chr4:118280341
PRSS12Intellectual disability, autosomal recessive 1Benign
(Apr 27, 2017)
criteria provided, single submitter
11.
GRCh37:
Chr4:119201514
GRCh38:
Chr4:118280359
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr4:119201518
GRCh38:
Chr4:118280363
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr4:119201532-119201533
GRCh38:
Chr4:118280377-118280378
PRSS12Intellectual Disability, RecessiveBenign
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr4:119201587
GRCh38:
Chr4:118280432
PRSS12Intellectual disability, autosomal recessive 1Likely benign
(Apr 27, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr4:119201592
GRCh38:
Chr4:118280437
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr4:119201656
GRCh38:
Chr4:118280501
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr4:119201660
GRCh38:
Chr4:118280505
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr4:119201948
GRCh38:
Chr4:118280793
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr4:119201950
GRCh38:
Chr4:118280795
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr4:119202141
GRCh38:
Chr4:118280986
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr4:119202171
GRCh38:
Chr4:118281016
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr4:119202179
GRCh38:
Chr4:118281024
PRSS12Intellectual disability, autosomal recessive 1Benign
(Apr 27, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr4:119202185
GRCh38:
Chr4:118281030
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr4:119202187
GRCh38:
Chr4:118281032
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr4:119202242
GRCh38:
Chr4:118281087
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr4:119202249
GRCh38:
Chr4:118281094
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr4:119202252
GRCh38:
Chr4:118281097
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr4:119202261
GRCh38:
Chr4:118281106
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr4:119202284
GRCh38:
Chr4:118281129
PRSS12Intellectual disability, autosomal recessive 1Likely benign
(Apr 27, 2017)
criteria provided, single submitter
30.
GRCh37:
Chr4:119202291
GRCh38:
Chr4:118281136
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Feb 2, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr4:119202327
GRCh38:
Chr4:118281172
PRSS12Intellectual disability, autosomal recessive 1Likely benign
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr4:119202419
GRCh38:
Chr4:118281264
PRSS12Intellectual disability, autosomal recessive 1Benign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr4:119202433
GRCh38:
Chr4:118281278
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Mar 30, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr4:119202487
GRCh38:
Chr4:118281332
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr4:119202508
GRCh38:
Chr4:118281353
PRSS12Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr4:119202517
GRCh38:
Chr4:118281362
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr4:119202560
GRCh38:
Chr4:118281405
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr4:119202565
GRCh38:
Chr4:118281410
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr4:119202813
GRCh38:
Chr4:118281658
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr4:119202824-119202827
GRCh38:
Chr4:118281669-118281672
PRSS12Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr4:119202828
GRCh38:
Chr4:118281673
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr4:119202831
GRCh38:
Chr4:118281676
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr4:119202858
GRCh38:
Chr4:118281703
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr4:119202870
GRCh38:
Chr4:118281715
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr4:119202883
GRCh38:
Chr4:118281728
PRSS12Intellectual disability, autosomal recessive 1Likely benign
(Apr 27, 2017)
criteria provided, single submitter
46.
GRCh37:
Chr4:119203015-119203016
GRCh38:
Chr4:118281860-118281861
PRSS12Intellectual Disability, RecessiveUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
47.
GRCh37:
Chr4:119203106
GRCh38:
Chr4:118281951
PRSS12Inborn genetic diseasesLikely benign
(Nov 14, 2019)
criteria provided, single submitter
48.
GRCh37:
Chr4:119203124
GRCh38:
Chr4:118281969
PRSS12F865LInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr4:119203131
GRCh38:
Chr4:118281976
PRSS12S863Lnot specifiedUncertain significance
(Sep 7, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr4:119203151
GRCh38:
Chr4:118281996
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr4:119203167
GRCh38:
Chr4:118282012
PRSS12G851VInborn genetic diseasesUncertain significance
(Aug 15, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr4:119203184
GRCh38:
Chr4:118282029
PRSS12not provided, Intellectual disability, autosomal recessive 1Benign
(May 8, 2018)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr4:119203185
GRCh38:
Chr4:118282030
PRSS12S845FInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr4:119203192
GRCh38:
Chr4:118282037
PRSS12V843MInborn genetic diseasesUncertain significance
(Jun 26, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr4:119203194
GRCh38:
Chr4:118282039
PRSS12G842EInborn genetic diseasesUncertain significance
(Jul 12, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr4:119203216
GRCh38:
Chr4:118282061
PRSS12G835RIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr4:119203217
GRCh38:
Chr4:118282062
PRSS12Inborn genetic diseasesLikely benign
(Feb 2, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr4:119203221
GRCh38:
Chr4:118282066
PRSS12R833QIntellectual Disability, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
59.
GRCh37:
Chr4:119203227
GRCh38:
Chr4:118282072
PRSS12C831FInborn genetic diseasesUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr4:119203230-119203231
GRCh38:
Chr4:118282075-118282076
PRSS12M830fsnot provided, Intellectual disability, autosomal recessive 1Conflicting interpretations of pathogenicity
(Aug 1, 2018)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr4:119203259
GRCh38:
Chr4:118282104
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr4:119203269
GRCh38:
Chr4:118282114
PRSS12R817HInborn genetic diseasesUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
63.
GRCh37:
Chr4:119203304
GRCh38:
Chr4:118282149
PRSS12R805Snot specifiedUncertain significance
(Jan 14, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr4:119203318
GRCh38:
Chr4:118282163
PRSS12R801WInborn genetic diseasesUncertain significance
(Nov 18, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr4:119203330
GRCh38:
Chr4:118282175
PRSS12R797Cnot specified, not provided, Intellectual disability, autosomal recessive 1
Likely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr4:119203343
GRCh38:
Chr4:118282188
PRSS12not specified, not providedLikely benign
(Jun 2, 2018)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr4:119203395
GRCh38:
Chr4:118282240
PRSS12R775Qnot providedUncertain significance
(Nov 14, 2013)
criteria provided, single submitter
68.
GRCh37:
Chr4:119203980
GRCh38:
Chr4:118282825
PRSS12not specified, Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr4:119204032-119204038
GRCh38:
Chr4:118282877-118282883
PRSS12R757fsIntellectual disability, autosomal recessive 1Uncertain significance
(Oct 19, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr4:119204056
GRCh38:
Chr4:118282901
PRSS12not providedLikely benign
(Dec 19, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr4:119204070
GRCh38:
Chr4:118282915
PRSS12V746IInborn genetic diseasesUncertain significance
(Jul 11, 2023)
criteria provided, single submitter
72.
GRCh37:
Chr4:119204090
GRCh38:
Chr4:118282935
PRSS12C739YInborn genetic diseasesUncertain significance
(May 8, 2023)
criteria provided, single submitter
73.
GRCh37:
Chr4:119204127
GRCh38:
Chr4:118282972
PRSS12I727VIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr4:119204133
GRCh38:
Chr4:118282978
PRSS12Y725HIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr4:119204142
GRCh38:
Chr4:118282987
PRSS12R722CInborn genetic diseasesUncertain significance
(Mar 6, 2023)
criteria provided, single submitter
76.
GRCh37:
Chr4:119204157
GRCh38:
Chr4:118283002
PRSS12E717QIntellectual disability, autosomal recessive 1, Inborn genetic diseasesUncertain significance
(Apr 12, 2023)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr4:119204159
GRCh38:
Chr4:118283004
PRSS12R716Qnot specifiedUncertain significance
(Jun 28, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr4:119204160
GRCh38:
Chr4:118283005
PRSS12R716Wnot specifiedUncertain significance
(Mar 6, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr4:119204177-119204178
GRCh38:
Chr4:118283022-118283023
PRSS12Q710fsnot specified, Intellectual disability, autosomal recessive 1Uncertain significance
(Nov 12, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr4:119204190
GRCh38:
Chr4:118283035
PRSS12E706*not specifiedUncertain significance
(Feb 24, 2023)
criteria provided, single submitter
81.
GRCh37:
Chr4:119204198
GRCh38:
Chr4:118283043
PRSS12F703CInborn genetic diseasesUncertain significance
(Feb 6, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr4:119204218
GRCh38:
Chr4:118283063
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr4:119204233
GRCh38:
Chr4:118283078
PRSS12not providedLikely benign
(Sep 26, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr4:119204252
GRCh38:
Chr4:118283097
PRSS12T685Inot specified, Intellectual disability, autosomal recessive 1Uncertain significance
(Jul 8, 2019)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr4:119204256
GRCh38:
Chr4:118283101
PRSS12S684RInborn genetic diseasesUncertain significance
(Dec 23, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr4:119204256
GRCh38:
Chr4:118283101
PRSS12S684GIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr4:119204267
GRCh38:
Chr4:118283112
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Dec 4, 2019)
criteria provided, single submitter
88.
GRCh37:
Chr4:119216099
GRCh38:
Chr4:118294944
PRSS12F678LIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr4:119216113
GRCh38:
Chr4:118294958
PRSS12A674SInborn genetic diseasesUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr4:119216158
GRCh38:
Chr4:118295003
PRSS12L659FIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr4:119216159
GRCh38:
Chr4:118295004
PRSS12R658SIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 22, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr4:119216187
GRCh38:
Chr4:118295032
PRSS12R649Qnot specifiedUncertain significance
(Jan 23, 2015)
criteria provided, single submitter
93.
GRCh37:
Chr4:119216214
GRCh38:
Chr4:118295059
PRSS12G640AInborn genetic diseasesUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr4:119216215
GRCh38:
Chr4:118295060
PRSS12G640RIntellectual disability, autosomal recessive 1Uncertain significance
(Nov 22, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr4:119216217
GRCh38:
Chr4:118295062
PRSS12not specifiedUncertain significance
(Oct 10, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr4:119216220
GRCh38:
Chr4:118295065
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr4:119216225
GRCh38:
Chr4:118295070
PRSS12not specifiedUncertain significance
(Nov 8, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr4:119216922
GRCh38:
Chr4:118295767
PRSS12Intellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr4:119216946
GRCh38:
Chr4:118295791
PRSS12K635EIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr4:119216970
GRCh38:
Chr4:118295815
PRSS12R627WIntellectual disability, autosomal recessive 1Uncertain significance
(Jan 1, 2019)
criteria provided, single submitter
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