| - GRCh37:
- Chr1:170005209-187524280
- GRCh38:
- Chr1:170036068-187555148
| LOC122149328, LOC122149329, LOC122149330, LOC122149331, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC126805939, LOC126805940, LOC126805941, LOC126805942, LOC126805943, LOC126805944, LOC126805945, LOC126805946, LOC126805947, LOC126805948, LOC126805949, LOC126805950, LOC126805951, LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC128071543, LOC129388629, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129388648, LOC129388649, LOC129388650, LOC129388651, LOC129388652, LOC129388653, LOC129388654, LOC129388655, LOC129388656, LOC129388657, LOC129388658, LOC129388659, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667, LOC129388668, LOC129388669, LOC129388670, LOC129388671, LOC129931901, LOC129931902, LOC129931903, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC129932009, LOC129932010, LOC129932011, LOC129932012, LOC129932013, LOC129932014, LOC129932015, LOC129932016, LOC129932017, LOC129932018, LOC129932019, LOC129932020, LOC129932021, LOC129932022, LOC129932023, LOC129932024, LOC129932025, LOC129932026, LOC129932027, LOC129932028, LOC129932029, LOC129932030, LOC129932031, LOC129932032, LOC129932033, LOC129932034, LOC129932035, LOC129932036, LOC129932037, LOC129932038, LOC129932039, LOC129932040, LOC129932041, LOC129932042, LOC129932043, LOC129932044, LOC129932045, LOC129932046, LOC129932047, LOC129932048, LOC129932049, LOC129932050, LOC129932051, LOC129932052, LOC129932053, LOC129932054, LOC129932055, LOC129932056, LOC129932057, LOC129932058, LOC129932059, LOC129932060, LOC129932061, LOC129932062, LOC129932063, LOC129932064, LOC129932065, LOC129932066, LOC129932067, LOC129932068, LOC129932069, LOC129932070, LOC129932071, LOC129932072, LOC129932073, LOC129932074, LOC129932075, LOC129932076, LOC129932077, LOC129932078, LOC129932079, LOC129932080, LOC129932081, LOC129932082, LOC129932083, LOC129932084, LOC129932085, LOC129932086, LOC129932087, LOC129932088, LOC129932089, LOC129932090, LOC129932091, LOC129932092, LOC129932093, LOC129932094, LOC129932095, LOC129932096, LOC129932097, LOC129932098, LOC129932099, LOC129932100, LOC129932101, LOC129932102, LOC129932103, LOC129932104, LOC129932105, LOC129932106, LOC129932107, LOC129932108, LOC129932109, LOC129932110, LOC129932111, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC129932127, LOC129932128, LOC132088598, LOC132088599, LOC132088600, METTL13, MIR12116, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3121, MIR4424, MIR488, MR1, MROH9, MRPS14, MYOC, MYOCOS, NCF2, NIBAN1, NMNAT2, NPHS2, NPL, NTMT2, OCLM, ODR4, OVAAL, PACERR, PAPPA2, PDC, PDC-AS1, PIGC, PLA2G4A, PRDX6, PRDX6-AS1, PRG4, PRRC2C, PRRX1, PTGS2, QSOX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RGL1, RGS16, RGS8, RGSL1, RNASEL, RNF2, SCARNA3, SEC16B, SERPINC1, SHCBP1L, SLC9C2, SMG7, SMG7-AS1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SOAT1, STX6, SUCO, SWT1, TDRD5, TEDDM1, TEX35, TEX50, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TPR, TRMT1L, TSEN15, VAMP4, XPR1, ZBTB37, ZNF648, ABL2, ACBD6, ANGPTL1, ANKRD45, APOBEC4, ARPC5, ASTN1, AXDND1, BRINP2, C1orf105, C1orf21, C1orf21-DT, C1orf220, CACNA1E, CACYBP, CENPL, CEP350, CLEC20A, COLGALT2, COP1, COP1-DT, CRYZL2P-SEC16B, DARS2, DHX9, DHX9-AS1, DNM3, DNM3-IT1, DNM3OS, EDEM3, FAM163A, FAM20B, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GLUL, GORAB, GORAB-AS1, GPR52, GS1-204I12.4, HMCN1, IER5, IVNS1ABP, KIAA0040, KIAA1614, KIAA1614-AS1, KIFAP3, KLHL20, LAMC1, LAMC1-AS1, LAMC2, LHX4, LHX4-AS1, LINC00272, LINC01036, LINC01037, LINC01142, LINC01344, LINC01350, LINC01633, LINC01645, LINC01657, LINC01681, LINC01686, LINC01688, LINC01699, LINC01732, LINC01741, LINC02816, LOC100506023, LOC105371622, LOC108318669, LOC110121215, LOC111365143, LOC111501763, LOC111556138, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC112577519, LOC112577520, LOC112577521, LOC112577522, LOC113939981, LOC115801455, LOC115801456, LOC115804233, LOC115804234, LOC115804235, LOC115804236, LOC120766158, LOC120893166, LOC120893168, LOC121725064, LOC121725065, LOC121725066, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC122149317, LOC122149318, LOC122149319, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327 | | See cases | Pathogenic (Nov 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:170898861-191034539
- GRCh38:
- Chr1:170929720-191065409
| IER5, IVNS1ABP, KIAA0040, KIAA1614, KIAA1614-AS1, KLHL20, LAMC1, LAMC1-AS1, LAMC2, LHX4, LHX4-AS1, LINC00272, LINC01035, LINC01036, LINC01037, LINC01344, LINC01350, LINC01633, LINC01645, LINC01657, LINC01686, LINC01688, LINC01699, LINC01720, LINC01732, LINC01741, LINC02816, LOC100506023, LOC105371622, LOC108281185, LOC108318669, LOC110121215, LOC111365143, LOC111501763, LOC111556138, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC112577519, LOC112577520, LOC112577521, LOC112577522, LOC112577523, LOC113939981, LOC115801455, LOC115801456, LOC115804233, LOC115804234, LOC115804235, LOC115804236, LOC120766158, LOC120893166, LOC120893168, LOC121725064, LOC121725065, LOC121725066, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC122149317, LOC122149318, LOC122149319, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327, LOC122149328, LOC122149329, LOC122149330, LOC122149331, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC126805939, LOC126805940, LOC126805941, LOC126805942, LOC126805943, LOC126805944, LOC126805945, LOC126805946, LOC126805947, LOC126805948, LOC126805949, LOC126805950, LOC126805951, LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC126805957, LOC126805958, LOC126805959, LOC126805960, LOC128071543, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129388648, LOC129388649, LOC129388650, LOC129388651, LOC129388652, LOC129388653, LOC129388654, LOC129388655, LOC129388656, LOC129388657, LOC129388658, LOC129388659, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667, LOC129388668, LOC129388669, LOC129388670, LOC129388671, LOC129388672, LOC129388673, LOC129388674, LOC129388675, LOC129388676, LOC129388677, LOC129388678, LOC129388679, LOC129388680, LOC129388681, LOC129388682, LOC129388683, LOC129388684, LOC129388685, LOC129388686, LOC129388687, LOC129388688, LOC129388689, LOC129388690, LOC129388691, LOC129388692, LOC129388693, LOC129388694, LOC129388695, LOC129388696, LOC129931904, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC129932009, LOC129932010, LOC129932011, LOC129932012, LOC129932013, LOC129932014, LOC129932015, LOC129932016, LOC129932017, LOC129932018, LOC129932019, LOC129932020, LOC129932021, LOC129932022, LOC129932023, LOC129932024, LOC129932025, LOC129932026, LOC129932027, LOC129932028, LOC129932029, LOC129932030, LOC129932031, LOC129932032, LOC129932033, LOC129932034, LOC129932035, LOC129932036, LOC129932037, LOC129932038, LOC129932039, LOC129932040, LOC129932041, LOC129932042, LOC129932043, LOC129932044, LOC129932045, LOC129932046, LOC129932047, LOC129932048, LOC129932049, LOC129932050, LOC129932051, LOC129932052, LOC129932053, LOC129932054, LOC129932055, LOC129932056, LOC129932057, LOC129932058, LOC129932059, LOC129932060, LOC129932061, LOC129932062, LOC129932063, LOC129932064, LOC129932065, LOC129932066, LOC129932067, LOC129932068, LOC129932069, LOC129932070, LOC129932071, LOC129932072, LOC129932073, LOC129932074, LOC129932075, LOC129932076, LOC129932077, LOC129932078, LOC129932079, LOC129932080, LOC129932081, LOC129932082, LOC129932083, LOC129932084, LOC129932085, LOC129932086, LOC129932087, LOC129932088, LOC129932089, LOC129932090, LOC129932091, LOC129932092, LOC129932093, LOC129932094, LOC129932095, LOC129932096, LOC129932097, LOC129932098, LOC129932099, LOC129932100, LOC129932101, LOC129932102, LOC129932103, LOC129932104, LOC129932105, LOC129932106, LOC129932107, LOC129932108, LOC129932109, LOC129932110, LOC129932111, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC129932127, LOC129932128, LOC129932129, LOC129932130, LOC132088599, LOC132088600, METTL13, MIR12116, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3120, MIR3121, MIR4424, MIR488, MR1, MROH9, MRPS14, MYOC, MYOCOS, NCF2, NIBAN1, NMNAT2, NPHS2, NPL, OCLM, ODR4, OVAAL, PACERR, PAPPA2, PDC, PDC-AS1, PIGC, PLA2G4A, PRDX6, PRDX6-AS1, PRG4, PRRC2C, PTGS2, QSOX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RGL1, RGS16, RGS8, RGSL1, RNASEL, RNF2, SCARNA3, SEC16B, SERPINC1, SHCBP1L, SLC9C2, SMG7, SMG7-AS1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SOAT1, STX6, SUCO, SWT1, TDRD5, TEDDM1, TEX35, TEX50, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TPR, TRMT1L, TSEN15, VAMP4, XPR1, ZBTB37, ZNF648, ABL2, ACBD6, ANGPTL1, ANKRD45, APOBEC4, ARPC5, ASTN1, AXDND1, BRINP2, BRINP3, BRINP3-DT, C1orf105, C1orf21, C1orf21-DT, C1orf220, CACNA1E, CACYBP, CENPL, CEP350, CLEC20A, COLGALT2, COP1, COP1-DT, CRYZL2P-SEC16B, DARS2, DHX9, DHX9-AS1, DNM3, DNM3-IT1, DNM3OS, EDEM3, FAM163A, FAM20B, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GLUL, GPR52, GS1-204I12.4, HMCN1 | | See cases | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr1:171009116-186845089
- GRCh38:
- Chr1:171039975-186875957
| ACBD6, ANGPTL1, ANKRD45, APOBEC4, ARPC5, ASTN1, AXDND1, BRINP2, C1orf105, C1orf21, C1orf21-DT, C1orf220, CACNA1E, CACYBP, CENPL, CEP350, CLEC20A, COLGALT2, COP1, COP1-DT, CRYZL2P-SEC16B, DARS2, DHX9, DHX9-AS1, DNM3, DNM3-IT1, DNM3OS, EDEM3, FAM163A, FAM20B, FASLG, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GLUL, GPR52, GS1-204I12.4, HMCN1, IER5, IVNS1ABP, KIAA0040, KIAA1614, KIAA1614-AS1, KLHL20, LAMC1, LAMC1-AS1, LAMC2, LHX4, LHX4-AS1, LINC00272, LINC01344, LINC01350, LINC01633, LINC01645, LINC01657, LINC01686, LINC01688, LINC01699, LINC01732, LINC01741, LINC02816, LOC100506023, LOC105371622, LOC108318669, LOC110121215, LOC111365143, LOC111501763, LOC111556138, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC112577519, LOC112577520, LOC112577521, LOC112577522, LOC113939981, LOC115801455, LOC115801456, LOC115804233, LOC115804234, LOC115804235, LOC115804236, LOC120766158, LOC120893166, LOC120893168, LOC121725064, LOC121725065, LOC121725066, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC122149317, LOC122149318, LOC122149319, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327, LOC122149328, LOC122149329, LOC122149330, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC126805929, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC126805939, LOC126805940, LOC126805941, LOC126805942, LOC126805943, LOC126805944, LOC126805945, LOC126805946, LOC126805947, LOC126805948, LOC126805949, LOC126805950, LOC126805951, LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC128071543, LOC129388630, LOC129388631, LOC129388632, LOC129388633, LOC129388634, LOC129388635, LOC129388636, LOC129388637, LOC129388638, LOC129388639, LOC129388640, LOC129388641, LOC129388642, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129388648, LOC129388649, LOC129388650, LOC129388651, LOC129388652, LOC129388653, LOC129388654, LOC129388655, LOC129388656, LOC129388657, LOC129388658, LOC129388659, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667, LOC129931905, LOC129931906, LOC129931907, LOC129931908, LOC129931909, LOC129931910, LOC129931911, LOC129931912, LOC129931913, LOC129931914, LOC129931915, LOC129931916, LOC129931917, LOC129931918, LOC129931919, LOC129931920, LOC129931921, LOC129931922, LOC129931923, LOC129931924, LOC129931925, LOC129931926, LOC129931927, LOC129931928, LOC129931929, LOC129931930, LOC129931931, LOC129931932, LOC129931933, LOC129931934, LOC129931935, LOC129931936, LOC129931937, LOC129931938, LOC129931939, LOC129931940, LOC129931941, LOC129931942, LOC129931943, LOC129931944, LOC129931945, LOC129931946, LOC129931947, LOC129931948, LOC129931949, LOC129931950, LOC129931951, LOC129931952, LOC129931953, LOC129931954, LOC129931955, LOC129931956, LOC129931957, LOC129931958, LOC129931959, LOC129931960, LOC129931961, LOC129931962, LOC129931963, LOC129931964, LOC129931965, LOC129931966, LOC129931967, LOC129931968, LOC129931969, LOC129931970, LOC129931971, LOC129931972, LOC129931973, LOC129931974, LOC129931975, LOC129931976, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC129932009, LOC129932010, LOC129932011, LOC129932012, LOC129932013, LOC129932014, LOC129932015, LOC129932016, LOC129932017, LOC129932018, LOC129932019, LOC129932020, LOC129932021, LOC129932022, LOC129932023, LOC129932024, LOC129932025, LOC129932026, LOC129932027, LOC129932028, LOC129932029, LOC129932030, LOC129932031, LOC129932032, LOC129932033, LOC129932034, LOC129932035, LOC129932036, LOC129932037, LOC129932038, LOC129932039, LOC129932040, LOC129932041, LOC129932042, LOC129932043, LOC129932044, LOC129932045, LOC129932046, LOC129932047, LOC129932048, LOC129932049, LOC129932050, LOC129932051, LOC129932052, LOC129932053, LOC129932054, LOC129932055, LOC129932056, LOC129932057, LOC129932058, LOC129932059, LOC129932060, LOC129932061, LOC129932062, LOC129932063, LOC129932064, LOC129932065, LOC129932066, LOC129932067, LOC129932068, LOC129932069, LOC129932070, LOC129932071, LOC129932072, LOC129932073, LOC129932074, LOC129932075, LOC129932076, LOC129932077, LOC129932078, LOC129932079, LOC129932080, LOC129932081, LOC129932082, LOC129932083, LOC129932084, LOC129932085, LOC129932086, LOC129932087, LOC129932088, LOC129932089, LOC129932090, LOC129932091, LOC129932092, LOC129932093, LOC129932094, LOC129932095, LOC129932096, LOC129932097, LOC129932098, LOC129932099, LOC129932100, LOC129932101, LOC129932102, LOC129932103, LOC129932104, LOC129932105, LOC129932106, LOC129932107, LOC129932108, LOC129932109, LOC129932110, LOC129932111, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC132088599, LOC132088600, METTL13, MIR12116, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3120, MIR3121, MIR4424, MIR488, MR1, MROH9, MRPS14, MYOC, MYOCOS, NCF2, NIBAN1, NMNAT2, NPHS2, NPL, OCLM, ODR4, OVAAL, PACERR, PAPPA2, PDC, PDC-AS1, PIGC, PLA2G4A, PRDX6, PRDX6-AS1, PRG4, PRRC2C, PTGS2, QSOX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RGL1, RGS16, RGS8, RGSL1, RNASEL, RNF2, SCARNA3, SEC16B, SERPINC1, SHCBP1L, SLC9C2, SMG7, SMG7-AS1, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SOAT1, STX6, SUCO, SWT1, TDRD5, TEDDM1, TEX35, TEX50, TNFSF18, TNFSF4, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TPR, TRMT1L, TSEN15, VAMP4, XPR1, ZBTB37, ZNF648, ABL2 | | See cases | Pathogenic (Aug 27, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:176565098-196270818
- GRCh38:
- Chr1:176595962-196301688
| LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC126805957, LOC126805958, LOC126805959, LOC126805960, LOC126805961, LOC126805962, LOC126805963, LOC128071543, LOC129388643, LOC129388644, LOC129388645, LOC129388646, LOC129388647, LOC129388648, LOC129388649, LOC129388650, LOC129388651, LOC129388652, LOC129388653, LOC129388654, LOC129388655, LOC129388656, LOC129388657, LOC129388658, LOC129388659, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667, LOC129388668, LOC129388669, LOC129388670, LOC129388671, LOC129388672, LOC129388673, LOC129388674, LOC129388675, LOC129388676, LOC129388677, LOC129388678, LOC129388679, LOC129388680, LOC129388681, LOC129388682, LOC129388683, LOC129388684, LOC129388685, LOC129388686, LOC129388687, LOC129388688, LOC129388689, LOC129388690, LOC129388691, LOC129388692, LOC129388693, LOC129388694, LOC129388695, LOC129388696, LOC129388697, LOC129388698, LOC129388699, LOC129388700, LOC129388701, LOC129388702, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129388714, LOC129388715, LOC129388716, LOC129388717, LOC129388718, LOC129388719, LOC129931977, LOC129931978, LOC129931979, LOC129931980, LOC129931981, LOC129931982, LOC129931983, LOC129931984, LOC129931985, LOC129931986, LOC129931987, LOC129931988, LOC129931989, LOC129931990, LOC129931991, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC129932009, LOC129932010, LOC129932011, LOC129932012, LOC129932013, LOC129932014, LOC129932015, LOC129932016, LOC129932017, LOC129932018, LOC129932019, LOC129932020, LOC129932021, LOC129932022, LOC129932023, LOC129932024, LOC129932025, LOC129932026, LOC129932027, LOC129932028, LOC129932029, LOC129932030, LOC129932031, LOC129932032, LOC129932033, LOC129932034, LOC129932035, LOC129932036, LOC129932037, LOC129932038, LOC129932039, LOC129932040, LOC129932041, LOC129932042, LOC129932043, LOC129932044, LOC129932045, LOC129932046, LOC129932047, LOC129932048, LOC129932049, LOC129932050, LOC129932051, LOC129932052, LOC129932053, LOC129932054, LOC129932055, LOC129932056, LOC129932057, LOC129932058, LOC129932059, LOC129932060, LOC129932061, LOC129932062, LOC129932063, LOC129932064, LOC129932065, LOC129932066, LOC129932067, LOC129932068, LOC129932069, LOC129932070, LOC129932071, LOC129932072, LOC129932073, LOC129932074, LOC129932075, LOC129932076, LOC129932077, LOC129932078, LOC129932079, LOC129932080, LOC129932081, LOC129932082, LOC129932083, LOC129932084, LOC129932085, LOC129932086, LOC129932087, LOC129932088, LOC129932089, LOC129932090, LOC129932091, LOC129932092, LOC129932093, LOC129932094, LOC129932095, LOC129932096, LOC129932097, LOC129932098, LOC129932099, LOC129932100, LOC129932101, LOC129932102, LOC129932103, LOC129932104, LOC129932105, LOC129932106, LOC129932107, LOC129932108, LOC129932109, LOC129932110, LOC129932111, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC129932127, LOC129932128, LOC129932129, LOC129932130, LOC129932131, LOC129932132, LOC129932133, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC129932152, LOC132088599, LOC132088600, LOC132088601, LOC132088602, LOC132090670, MIR12116, MIR1278, MIR3121, MIR4424, MIR4426, MIR488, MR1, NCF2, NIBAN1, NMNAT2, NPHS2, NPL, OCLM, ODR4, OVAAL, PACERR, PAPPA2, PDC, PDC-AS1, PLA2G4A, PRG4, PTGS2, QSOX1, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS2-AS1, RGS21, RGS8, RGSL1, RNASEL, RNF2, RO60, SCARNA18B, SEC16B, SHCBP1L, SMG7, SMG7-AS1, SOAT1, STX6, SWT1, TDRD5, TEDDM1, TEX35, TOR1AIP1, TOR1AIP2, TOR3A, TPR, TRMT1L, TSEN15, UCHL5, XPR1, ZNF648, ABL2, ACBD6, ANGPTL1, APOBEC4, ARPC5, ASTN1, AXDND1, B3GALT2, BRINP2, BRINP3, BRINP3-DT, C1orf21, C1orf21-DT, C1orf220, CACNA1E, CDC73, CEP350, CLEC20A, COLGALT2, CRYZL2P-SEC16B, DHX9, DHX9-AS1, EDEM3, FAM163A, FAM20B, GLRX2, GLUL, GS1-204I12.4, HMCN1, IER5, IVNS1ABP, KCNT2, KIAA1614, KIAA1614-AS1, LAMC1, LAMC1-AS1, LAMC2, LHX4, LHX4-AS1, LINC00272, LINC01031, LINC01035, LINC01036, LINC01037, LINC01344, LINC01350, LINC01633, LINC01645, LINC01680, LINC01686, LINC01688, LINC01699, LINC01720, LINC01724, LINC01732, LINC01741, LINC02770, LINC02816, LOC108281185, LOC108318669, LOC110121215, LOC111365143, LOC111501763, LOC111556116, LOC111556138, LOC112577517, LOC112577519, LOC112577520, LOC112577521, LOC112577522, LOC112577523, LOC113939981, LOC115801456, LOC115804233, LOC115804234, LOC115804235, LOC115804236, LOC120766158, LOC120893169, LOC121725065, LOC121725066, LOC121725067, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC122149317, LOC122149318, LOC122149319, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327, LOC122149328, LOC122149329, LOC122149330, LOC122149331, LOC122149332, LOC122149333, LOC122149334, LOC126805930, LOC126805931, LOC126805932, LOC126805933, LOC126805934, LOC126805935, LOC126805936, LOC126805937, LOC126805938, LOC126805939, LOC126805940, LOC126805941, LOC126805942, LOC126805943, LOC126805944, LOC126805945, LOC126805946, LOC126805947, LOC126805948, LOC126805949, LOC126805950, LOC126805951 | | See cases | Pathogenic (Aug 18, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:179002040-199694025
- GRCh38:
- Chr1:179032905-199724897
| LOC129388668, LOC129388669, LOC129388670, LOC129388671, LOC129388672, LOC129388673, LOC129388674, LOC129388675, LOC129388676, LOC129388677, LOC129388678, LOC129388679, LOC129388680, LOC129388681, LOC129388682, LOC129388683, LOC129388684, LOC129388685, LOC129388686, LOC129388687, LOC129388688, LOC129388689, LOC129388690, LOC129388691, LOC129388692, LOC129388693, LOC129388694, LOC129388695, LOC129388696, LOC129388697, LOC129388698, LOC129388699, LOC129388700, LOC129388701, LOC129388702, LOC129388703, LOC129388704, LOC129388705, LOC129388706, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129388714, LOC129388715, LOC129388716, LOC129388717, LOC129388718, LOC129388719, LOC129388720, LOC129388721, LOC129388722, LOC129388723, LOC129388724, LOC129931992, LOC129931993, LOC129931994, LOC129931995, LOC129931996, LOC129931997, LOC129931998, LOC129931999, LOC129932000, LOC129932001, LOC129932002, LOC129932003, LOC129932004, LOC129932005, LOC129932006, LOC129932007, LOC129932008, LOC129932009, LOC129932010, LOC129932011, LOC129932012, LOC129932013, LOC129932014, LOC129932015, LOC129932016, LOC129932017, LOC129932018, LOC129932019, LOC129932020, LOC129932021, LOC129932022, LOC129932023, LOC129932024, LOC129932025, LOC129932026, LOC129932027, LOC129932028, LOC129932029, LOC129932030, LOC129932031, LOC129932032, LOC129932033, LOC129932034, LOC129932035, LOC129932036, LOC129932037, LOC129932038, LOC129932039, LOC129932040, LOC129932041, LOC129932042, LOC129932043, LOC129932044, LOC129932045, LOC129932046, LOC129932047, LOC129932048, LOC129932049, LOC129932050, LOC129932051, LOC129932052, LOC129932053, LOC129932054, LOC129932055, LOC129932056, LOC129932057, LOC129932058, LOC129932059, LOC129932060, LOC129932061, LOC129932062, LOC129932063, LOC129932064, LOC129932065, LOC129932066, LOC129932067, LOC129932068, LOC129932069, LOC129932070, LOC129932071, LOC129932072, LOC129932073, LOC129932074, LOC129932075, LOC129932076, LOC129932077, LOC129932078, LOC129932079, LOC129932080, LOC129932081, LOC129932082, LOC129932083, LOC129932084, LOC129932085, LOC129932086, LOC129932087, LOC129932088, LOC129932089, LOC129932090, LOC129932091, LOC129932092, LOC129932093, LOC129932094, LOC129932095, LOC129932096, LOC129932097, LOC129932098, LOC129932099, LOC129932100, LOC129932101, LOC129932102, LOC129932103, LOC129932104, LOC129932105, LOC129932106, LOC129932107, LOC129932108, LOC129932109, LOC129932110, LOC129932111, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC129932127, LOC129932128, LOC129932129, LOC129932130, LOC129932131, LOC129932132, LOC129932133, LOC129932134, LOC129932135, LOC129932136, LOC129932137, LOC129932138, LOC129932139, LOC129932140, LOC129932141, LOC129932142, LOC129932143, LOC129932144, LOC129932145, LOC129932146, LOC129932147, LOC129932148, LOC129932149, LOC129932150, LOC129932151, LOC129932152, LOC129932153, LOC129932154, LOC129932155, LOC129932156, LOC129932157, LOC129932158, LOC129932159, LOC129932160, LOC129932161, LOC129932162, LOC129932163, LOC129932164, LOC129932165, LOC129932166, LOC129932167, LOC129932168, LOC129932169, LOC129932170, LOC129932171, LOC129932172, LOC129932173, LOC129932174, LOC129932175, LOC129932176, LOC129932177, LOC129932178, LOC129932179, LOC129932180, LOC132088599, LOC132088600, LOC132088601, LOC132088602, LOC132090670, MIR12116, MIR1278, MIR181A1, MIR181A1HG, MIR181B1, MIR3121, MIR4426, MIR4735, MR1, NCF2, NEK7, NIBAN1, NMNAT2, NPHS2, NPL, OCLM, ODR4, OVAAL, PACERR, PDC, PDC-AS1, PLA2G4A, PRG4, PTGS2, PTPRC, QSOX1, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS2-AS1, RGS21, RGS8, RGSL1, RNASEL, RNF2, RO60, SCARNA18B, SHCBP1L, SMG7, SMG7-AS1, SOAT1, STX6, SWT1, TDRD5, TEDDM1, TOR1AIP1, TOR1AIP2, TOR3A, TPR, TRMT1L, TSEN15, UCHL5, XPR1, ZBTB41, ZNF648, ABL2, ACBD6, APOBEC4, ARPC5, ASPM, ATP6V1G3, AXDND1, B3GALT2, BRINP3, BRINP3-DT, C1orf21, C1orf21-DT, C1orf53, CACNA1E, CDC73, CEP350, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, COLGALT2, CRB1, DENND1B, DHX9, DHX9-AS1, EDEM3, F13B, FAM163A, FAM20B, GLRX2, GLUL, GS1-204I12.4, HMCN1, IER5, IVNS1ABP, KCNT2, KIAA1614, KIAA1614-AS1, LAMC1, LAMC1-AS1, LAMC2, LHX4, LHX4-AS1, LHX9, LINC00272, LINC01031, LINC01035, LINC01036, LINC01037, LINC01221, LINC01222, LINC01344, LINC01350, LINC01633, LINC01680, LINC01686, LINC01688, LINC01699, LINC01720, LINC01724, LINC01732, LINC02770, LINC02789, LINC02816, LOC108281163, LOC108281185, LOC108318669, LOC110121056, LOC110121215, LOC111365143, LOC111501763, LOC111556116, LOC112577517, LOC112577519, LOC112577520, LOC112577521, LOC112577522, LOC112577523, LOC113939981, LOC115804233, LOC115804234, LOC115804235, LOC115804236, LOC115804237, LOC120893169, LOC121725065, LOC121725066, LOC121725067, LOC121725068, LOC122149316, LOC122149317, LOC122149318, LOC122149319, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327, LOC122149328, LOC122149329, LOC122149330, LOC122149331, LOC122149332, LOC122149333, LOC122149334, LOC122149335, LOC122149336, LOC122149337, LOC122149338, LOC126805937, LOC126805938, LOC126805939, LOC126805940, LOC126805941, LOC126805942, LOC126805943, LOC126805944, LOC126805945, LOC126805946, LOC126805947, LOC126805948, LOC126805949, LOC126805950, LOC126805951, LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC126805957, LOC126805958, LOC126805959, LOC126805960, LOC126805961, LOC126805962, LOC126805963, LOC126805964, LOC126805965, LOC126805966, LOC126805967, LOC126805968, LOC126805969, LOC126805970, LOC128071543, LOC129388647, LOC129388648, LOC129388649, LOC129388650, LOC129388651, LOC129388652, LOC129388653, LOC129388654, LOC129388655, LOC129388656, LOC129388657, LOC129388658, LOC129388659, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:182106861-186900257
- GRCh38:
- Chr1:182137726-186931125
| APOBEC4, ARPC5, C1orf21, C1orf21-DT, COLGALT2, DHX9, DHX9-AS1, EDEM3, GLUL, GS1-204I12.4, HMCN1, IVNS1ABP, LAMC1, LAMC1-AS1, LAMC2, LINC00272, LINC01344, LINC01350, LINC01633, LINC01686, LINC01688, LOC108318669, LOC111365143, LOC111501763, LOC112577520, LOC112577521, LOC112577522, LOC113939981, LOC115804235, LOC115804236, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327, LOC122149328, LOC122149329, LOC122149330, LOC126805944, LOC126805945, LOC126805946, LOC126805947, LOC126805948, LOC126805949, LOC126805950, LOC126805951, LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC129388657, LOC129388658, LOC129388659, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667, LOC129932056, LOC129932057, LOC129932058, LOC129932059, LOC129932060, LOC129932061, LOC129932062, LOC129932063, LOC129932064, LOC129932065, LOC129932066, LOC129932067, LOC129932068, LOC129932069, LOC129932070, LOC129932071, LOC129932072, LOC129932073, LOC129932074, LOC129932075, LOC129932076, LOC129932077, LOC129932078, LOC129932079, LOC129932080, LOC129932081, LOC129932082, LOC129932083, LOC129932084, LOC129932085, LOC129932086, LOC129932087, LOC129932088, LOC129932089, LOC129932090, LOC129932091, LOC129932092, LOC129932093, LOC129932094, LOC129932095, LOC129932096, LOC129932097, LOC129932098, LOC129932099, LOC129932100, LOC129932101, LOC129932102, LOC129932103, LOC129932104, LOC129932105, LOC129932106, LOC129932107, LOC129932108, LOC129932109, LOC129932110, LOC129932111, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, NCF2, NIBAN1, NMNAT2, NPL, OCLM, ODR4, PACERR, PDC, PDC-AS1, PLA2G4A, PRG4, PTGS2, RGL1, RGS16, RGS8, RGSL1, RNASEL, RNF2, SHCBP1L, SMG7, SMG7-AS1, SWT1, TEDDM1, TPR, TRMT1L, TSEN15 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:184857562-186591462
- GRCh38:
- Chr1:184888428-186622330
| GS1-204I12.4, HMCN1, IVNS1ABP, LINC01350, LINC01633, LOC113939981, LOC122149328, LOC122149329, LOC126805950, LOC126805951, LOC126805952, LOC126805953, LOC126805954, LOC126805955, LOC129388660, LOC129388661, LOC129388662, LOC129388663, LOC129388664, LOC129388665, LOC129388666, LOC129388667, LOC129932112, LOC129932113, LOC129932114, LOC129932115, LOC129932116, LOC129932117, LOC129932118, LOC129932119, LOC129932120, LOC129932121, LOC129932122, LOC129932123, LOC129932124, LOC129932125, NIBAN1, OCLM, ODR4, PDC, PDC-AS1, PRG4, RNF2, SWT1, TPR, TRMT1L | | See cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:185928835-187713022
- GRCh38:
- Chr1:185959703-187743891
| HMCN1, LINC01036, LINC01037, LOC122149330, LOC122149331, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC126805957, LOC126805958, LOC129388665, LOC129388666, LOC129388667, LOC129388668, LOC129388669, LOC129388670, LOC129388671, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC129932127, LOC129932128, OCLM, ODR4, PACERR, PDC, PDC-AS1, PLA2G4A, PRG4, PTGS2, TPR | | See cases | Uncertain significance (Jan 16, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:185947031-187681865
- GRCh38:
- Chr1:185977899-187712734
| HMCN1, LINC01036, LINC01037, LOC122149330, LOC122149331, LOC126805953, LOC126805954, LOC126805955, LOC126805956, LOC126805957, LOC126805958, LOC129388665, LOC129388666, LOC129388667, LOC129388668, LOC129388669, LOC129388670, LOC129388671, LOC129932122, LOC129932123, LOC129932124, LOC129932125, LOC129932126, LOC129932127, LOC129932128, OCLM, ODR4, PACERR, PDC, PDC-AS1, PLA2G4A, PRG4, PTGS2, TPR | | See cases | Uncertain significance (Apr 29, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:186265948
- GRCh38:
- Chr1:186296816
| PRG4 | | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Benign (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186269344
- GRCh38:
- Chr1:186300212
| PRG4 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270726
- GRCh38:
- Chr1:186301594
| PRG4 | L27V, L68V | Inborn genetic diseases | Uncertain significance (May 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270791
- GRCh38:
- Chr1:186301659
| PRG4 | | not provided | Likely benign (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270801
- GRCh38:
- Chr1:186301669
| PRG4 | Y52D, Y93D | Inborn genetic diseases | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270823
- GRCh38:
- Chr1:186301691
| PRG4 | Y100F, Y59F | Inborn genetic diseases | Uncertain significance (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270825
- GRCh38:
- Chr1:186301693
| PRG4 | E101*, E60* | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Mar 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270832
- GRCh38:
- Chr1:186301700
| PRG4 | F103S, F62S | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Uncertain significance (Jul 16, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186270840
- GRCh38:
- Chr1:186301708
| PRG4 | E106K, E65K | Inborn genetic diseases | Uncertain significance (Mar 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186273261
- GRCh38:
- Chr1:186304129
| PRG4 | P114Q, P73Q | Inborn genetic diseases | Uncertain significance (Jul 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186273274
- GRCh38:
- Chr1:186304142
| PRG4 | K118N, K77N | Inborn genetic diseases | Uncertain significance (May 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186273323
- GRCh38:
- Chr1:186304191
| PRG4 | R135G, R94G | not provided | Uncertain significance (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186273994
- GRCh38:
- Chr1:186304862
| PRG4 | R180W, R139W | not specified, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Benign | no assertion criteria provided |
| - GRCh37:
- Chr1:186273995
- GRCh38:
- Chr1:186304863
| PRG4 | R180Q, R139Q | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186274016
- GRCh38:
- Chr1:186304884
| PRG4 | N146T, N187T | Inborn genetic diseases | Uncertain significance (Nov 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275510
- GRCh38:
- Chr1:186306378
| PRG4 | D179A, D177A, D220A, D127A, D86A | not provided | Benign (May 8, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275699
- GRCh38:
- Chr1:186306567
| PRG4 | T190I, T242I, T149I, T240I, T283I | Inborn genetic diseases | Uncertain significance (Nov 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275700
- GRCh38:
- Chr1:186306568
| PRG4 | V191fs, V284fs, V241fs, V243fs, V150fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Feb 4, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:186275716-186275718
- GRCh38:
- Chr1:186306584-186306586
| PRG4 | T158del, T199del, T249del, T251del, T292del | not provided | Benign (Jan 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275730
- GRCh38:
- Chr1:186306598
| PRG4 | | not provided | Likely benign (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275756
- GRCh38:
- Chr1:186306624
| PRG4 | E209V, E259V, E168V, E261V, E302V | Inborn genetic diseases | Uncertain significance (Aug 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275770
- GRCh38:
- Chr1:186306638
| PRG4 | A214T, A266T, A307T, A173T, A264T | Inborn genetic diseases | Uncertain significance (Jul 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275782
- GRCh38:
- Chr1:186306650
| PRG4 | Q177K, Q270K, Q218K, Q268K, Q311K | Inborn genetic diseases | Uncertain significance (Apr 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275784
- GRCh38:
- Chr1:186306652
| PRG4 | Q177H, Q268H, Q270H, Q218H, Q311H | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275813
- GRCh38:
- Chr1:186306681
| PRG4 | L187*, L228*, L278*, L280*, L321* | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275829
- GRCh38:
- Chr1:186306697
| PRG4 | | not provided | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275847
- GRCh38:
- Chr1:186306715
| PRG4 | | not provided | Likely benign (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275857
- GRCh38:
- Chr1:186306725
| PRG4 | E202K, E243K, E293K, E295K, E336K | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275980-186275981
- GRCh38:
- Chr1:186306848-186306849
| PRG4 | K245fs, K286fs, K336fs, K338fs, K379fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:186275983
- GRCh38:
- Chr1:186306851
| PRG4 | P337S, P244S, P285S, P335S, P378S | Inborn genetic diseases | Uncertain significance (Jun 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276043
- GRCh38:
- Chr1:186306911
| PRG4 | T265fs, T358fs, T399fs, T306fs, T356fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Feb 4, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:186276062
- GRCh38:
- Chr1:186306930
| PRG4 | P361R, P270R, P363R, P404R, P311R | Inborn genetic diseases | Uncertain significance (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276077
- GRCh38:
- Chr1:186306945
| PRG4 | P366L, P368L, P316L, P275L, P409L | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276113
- GRCh38:
- Chr1:186306981
| PRG4 | A287V, A328V, A378V, A380V, A421V | Inborn genetic diseases | Uncertain significance (Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276123
- GRCh38:
- Chr1:186306991
| PRG4 | | not provided | Likely benign (Feb 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276157
- GRCh38:
- Chr1:186307025
| PRG4 | A302T, A393T, A395T, A343T, A436T | Inborn genetic diseases | Uncertain significance (Mar 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276166-186276167
- GRCh38:
- Chr1:186307034-186307035
| PRG4 | K307fs, K348fs, K398fs, K400fs, K441fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Oct 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276268-186276291
- GRCh38:
- Chr1:186307136-186307159
| PRG4 | | not provided | Benign (Aug 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276272
- GRCh38:
- Chr1:186307140
| PRG4 | P340L, P431L, P381L, P433L, P474L | Inborn genetic diseases | Uncertain significance (Feb 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276292
- GRCh38:
- Chr1:186307160
| PRG4 | E481K, E388K, E440K, E347K, E438K | Inborn genetic diseases | Likely benign (Mar 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276308
- GRCh38:
- Chr1:186307176
| PRG4 | A393V, A352V, A486V, A443V, A445V | Inborn genetic diseases | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276401
- GRCh38:
- Chr1:186307269
| PRG4 | T517I, T383I, T474I, T476I, T424I | Inborn genetic diseases | Uncertain significance (Mar 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276427
- GRCh38:
- Chr1:186307295
| PRG4 | T485S, T433S, T483S, T392S, T526S | Inborn genetic diseases | Uncertain significance (Mar 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276429
- GRCh38:
- Chr1:186307297
| PRG4 | | not provided | Likely benign (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276460
- GRCh38:
- Chr1:186307328
| PRG4 | P496T, P444T, P494T, P403T, P537T | Inborn genetic diseases | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276519
- GRCh38:
- Chr1:186307387
| PRG4 | | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276520
- GRCh38:
- Chr1:186307388
| PRG4 | T464P, T557P, T423P, T514P, T516P | Inborn genetic diseases | Likely benign (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276549
- GRCh38:
- Chr1:186307417
| PRG4 | E433fs, E474fs, E524fs, E526fs, E567fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276588
- GRCh38:
- Chr1:186307456
| PRG4 | | not provided, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Benign/Likely benign | no assertion criteria provided |
| - GRCh37:
- Chr1:186276608
- GRCh38:
- Chr1:186307476
| PRG4 | P493L, P452L, P545L, P543L, P586L | Inborn genetic diseases | Uncertain significance (May 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276661
- GRCh38:
- Chr1:186307529
| PRG4 | T470A, T511A, T561A, T563A, T604A | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Benign (Oct 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276662
- GRCh38:
- Chr1:186307530
| PRG4 | T561I, T511I, T563I, T470I, T604I | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276664
- GRCh38:
- Chr1:186307532
| PRG4 | P512S, P562S, P564S, P471S, P605S | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276707
- GRCh38:
- Chr1:186307575
| PRG4 | T526N, T619N, T485N, T578N, T576N | Inborn genetic diseases | Uncertain significance (Jun 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276721
- GRCh38:
- Chr1:186307589
| PRG4 | L490F, L581F, L583F, L531F, L624F | Inborn genetic diseases | Uncertain significance (Aug 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276724
- GRCh38:
- Chr1:186307592
| PRG4 | T532P, T584P, T582P, T491P, T625P | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276738-186276742
- GRCh38:
- Chr1:186307606-186307610
| PRG4 | | not provided | Likely benign (Jan 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276748
- GRCh38:
- Chr1:186307616
| PRG4 | A499P, A633P, A592P, A540P, A590P | Inborn genetic diseases | Uncertain significance (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276761-186276762
- GRCh38:
- Chr1:186307629-186307630
| PRG4 | P637fs, P503fs, P544fs, P594fs, P596fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276762
- GRCh38:
- Chr1:186307630
| PRG4 | E504fs, E545fs, E595fs, E638fs, E597fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Feb 4, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:186276786
- GRCh38:
- Chr1:186307654
| PRG4 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276786
- GRCh38:
- Chr1:186307654
| PRG4 | E512fs, E553fs, E603fs, E605fs, E646fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (May 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:186276830
- GRCh38:
- Chr1:186307698
| PRG4 | T567N, T619N, T660N, T617N, T526N | Inborn genetic diseases | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276841
- GRCh38:
- Chr1:186307709
| PRG4 | P530A, P664A, P571A, P621A, P623A | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276843
- GRCh38:
- Chr1:186307711
| PRG4 | | not provided | Benign (Aug 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276866
- GRCh38:
- Chr1:186307734
| PRG4 | A538V, A629V, A672V, A579V, A631V | Inborn genetic diseases | Uncertain significance (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276895
- GRCh38:
- Chr1:186307763
| PRG4 | P639S, P589S, P548S, P682S, P641S | Inborn genetic diseases | Uncertain significance (Jun 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186276910
- GRCh38:
- Chr1:186307778
| PRG4 | E553K, E644K, E646K, E594K, E687K | Inborn genetic diseases | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277028
- GRCh38:
- Chr1:186307896
| PRG4 | K683R, K592R, K633R, K685R, K726R | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277040
- GRCh38:
- Chr1:186307908
| PRG4 | P730L, P596L, P687L, P637L, P689L | Inborn genetic diseases | Uncertain significance (Dec 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277066
- GRCh38:
- Chr1:186307934
| PRG4 | K698*, K646*, K696*, K605*, K739* | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Feb 4, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:186277067
- GRCh38:
- Chr1:186307935
| PRG4 | K739R, K605R, K696R, K646R, K698R | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277088
- GRCh38:
- Chr1:186307956
| PRG4 | | not specified | Benign | no assertion criteria provided |
| - GRCh37:
- Chr1:186277096
- GRCh38:
- Chr1:186307964
| PRG4 | A616fs, A657fs, A707fs, A709fs, A750fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277099
- GRCh38:
- Chr1:186307967
| PRG4 | A616T, A657T, A707T, A709T, A750T | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277113
- GRCh38:
- Chr1:186307981
| PRG4 | | not provided | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277137
- GRCh38:
- Chr1:186308005
| PRG4 | | not provided | Likely benign (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277276
- GRCh38:
- Chr1:186308144
| PRG4 | G675W, G809W, G716W, G768W, G766W | Inborn genetic diseases | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277300
- GRCh38:
- Chr1:186308168
| PRG4 | K683E, K817E, K724E, K774E, K776E | Inborn genetic diseases | Likely benign (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277304-186277327
- GRCh38:
- Chr1:186308172-186308195
| PRG4 | | not provided | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277306
- GRCh38:
- Chr1:186308174
| PRG4 | A819T, A726T, A776T, A778T, A685T | Inborn genetic diseases | Uncertain significance (Aug 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277307
- GRCh38:
- Chr1:186308175
| PRG4 | A776V, A778V, A819V, A685V, A726V | Inborn genetic diseases | Uncertain significance (Apr 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277323
- GRCh38:
- Chr1:186308191
| PRG4 | K824N, K731N, K690N, K781N, K783N | Inborn genetic diseases | Uncertain significance (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277331
- GRCh38:
- Chr1:186308199
| PRG4 | A693V, A734V, A827V, A786V, A784V | Inborn genetic diseases | Uncertain significance (Feb 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277360
- GRCh38:
- Chr1:186308228
| PRG4 | T703A, T794A, T796A, T744A, T837A | Inborn genetic diseases | Uncertain significance (Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277367
- GRCh38:
- Chr1:186308235
| PRG4 | P705H, P796H, P798H, P839H, P746H | Inborn genetic diseases | Uncertain significance (Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277437
- GRCh38:
- Chr1:186308305
| PRG4 | | not provided | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277529
- GRCh38:
- Chr1:186308397
| PRG4 | P759R, P852R, P893R, P800R, P850R | Inborn genetic diseases | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277568
- GRCh38:
- Chr1:186308436
| PRG4 | A772V, A813V, A863V, A865V, A906V | See cases | Likely benign (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277611-186277614
- GRCh38:
- Chr1:186308479-186308482
| PRG4 | R788fs, R829fs, R879fs, R881fs, R922fs | Abnormality of the skeletal system | Likely pathogenic (Jul 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:186277656-186277660
- GRCh38:
- Chr1:186308524-186308528
| PRG4 | K802fs, K843fs, K893fs, K895fs, K936fs | Camptodactyly-arthropathy-coxa vara-pericarditis syndrome | Pathogenic (Nov 1, 1999) | no assertion criteria provided |