| - 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:
- Chr1:175004176-186011727
- GRCh38:
- Chr1:175035040-186042595
| ABL2, ACBD6, ANGPTL1, APOBEC4, ARPC5, ASTN1, AXDND1, BRINP2, C1orf21, C1orf21-DT, C1orf220, CACNA1E, CEP350, CLEC20A, COLGALT2, COP1, COP1-DT, CRYZL2P-SEC16B, DHX9, DHX9-AS1, EDEM3, FAM163A, FAM20B, GLUL, GS1-204I12.4, HMCN1, IER5, IVNS1ABP, KIAA0040, KIAA1614, KIAA1614-AS1, LAMC1, LAMC1-AS1, LAMC2, LHX4, LHX4-AS1, LINC00272, LINC01344, LINC01350, LINC01633, LINC01645, LINC01657, LINC01686, LINC01688, LINC01699, LINC01732, LINC01741, LINC02816, LOC108318669, LOC110121215, LOC111365143, LOC111501763, LOC111556138, LOC112577517, LOC112577519, LOC112577520, LOC112577521, LOC112577522, LOC113939981, LOC115801456, LOC115804233, LOC115804234, LOC115804235, LOC115804236, LOC120766158, LOC121725065, LOC121725066, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC122149317, LOC122149318, LOC122149319, LOC122149320, LOC122149321, LOC122149322, LOC122149323, LOC122149324, LOC122149325, LOC122149326, LOC122149327, LOC122149328, LOC122149329, 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, LOC128071543, 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, 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, LOC132088599, LOC132088600, MIR12116, MIR1843, MIR3121, MIR4424, MIR488, MR1, NCF2, NIBAN1, NMNAT2, NPHS2, NPL, OVAAL, PAPPA2, QSOX1, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RGL1, RGS16, RGS8, RGSL1, RNASEL, RNF2, SCARNA3, SEC16B, SHCBP1L, SMG7, SMG7-AS1, SOAT1, STX6, SWT1, TDRD5, TEDDM1, TEX35, TNN, TNR, TOR1AIP1, TOR1AIP2, TOR3A, TRMT1L, TSEN15, XPR1, ZNF648 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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:
- Chr1:183155211
- GRCh38:
- Chr1:183186076
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155226
- GRCh38:
- Chr1:183186091
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155228
- GRCh38:
- Chr1:183186093
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa, not provided | Benign (Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155232
- GRCh38:
- Chr1:183186097
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155305
- GRCh38:
- Chr1:183186170
| LAMC2, LOC126805948 | | not provided, Junctional epidermolysis bullosa | Benign (Nov 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155348
- GRCh38:
- Chr1:183186213
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155399
- GRCh38:
- Chr1:183186264
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, not provided, Junctional epidermolysis bullosa, non-Herlitz type | Benign (Jul 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155409
- GRCh38:
- Chr1:183186274
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155449
- GRCh38:
- Chr1:183186314
| LOC126805948, LAMC2 | | Junctional epidermolysis bullosa | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155450
- GRCh38:
- Chr1:183186315
| LAMC2, LOC126805948 | | not provided, Junctional epidermolysis bullosa | Benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155473
- GRCh38:
- Chr1:183186338
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa | Uncertain significance (Jan 12, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155482
- GRCh38:
- Chr1:183186347
| LOC126805948, LAMC2 | | Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa, not provided, Junctional epidermolysis bullosa, non-Herlitz type | Benign (Jul 8, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155488
- GRCh38:
- Chr1:183186353
| LAMC2, LOC126805948 | M1V | Junctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of Herlitz | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:183155489
- GRCh38:
- Chr1:183186354
| LAMC2, LOC126805948 | M1T | not provided | Pathogenic (Mar 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155490
- GRCh38:
- Chr1:183186355
| LAMC2, LOC126805948 | M1I | Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (Jan 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155493
- GRCh38:
- Chr1:183186358
| LAMC2, LOC126805948 | | not provided | Likely benign (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155496
- GRCh38:
- Chr1:183186361
| LAMC2, LOC126805948 | | not provided | Likely benign (Dec 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155496
- GRCh38:
- Chr1:183186361
| LAMC2, LOC126805948 | | not provided | Likely benign (Sep 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155501
- GRCh38:
- Chr1:183186366
| LAMC2, LOC126805948 | W5* | not provided | Likely pathogenic (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155508
- GRCh38:
- Chr1:183186373
| LAMC2, LOC126805948 | | not provided | Likely benign (Mar 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155517
- GRCh38:
- Chr1:183186382
| LAMC2, LOC126805948 | | not provided | Likely benign (Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155523
- GRCh38:
- Chr1:183186388
| LAMC2, LOC126805948 | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155526
- GRCh38:
- Chr1:183186391
| LAMC2, LOC126805948 | | not provided | Likely benign (Dec 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155526
- GRCh38:
- Chr1:183186391
| LAMC2, LOC126805948 | | not provided | Likely benign (Jan 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155535
- GRCh38:
- Chr1:183186400
| LAMC2, LOC126805948 | | not provided, Junctional epidermolysis bullosa | Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:183155535
- GRCh38:
- Chr1:183186400
| LAMC2, LOC126805948 | | not provided | Benign (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155538
- GRCh38:
- Chr1:183186403
| LAMC2, LOC126805948 | | not provided | Likely benign (May 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155545
- GRCh38:
- Chr1:183186410
| LAMC2, LOC126805948 | R20W | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155547
- GRCh38:
- Chr1:183186412
| LAMC2, LOC126805948 | | not provided | Likely benign (Dec 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155553
- GRCh38:
- Chr1:183186418
| LAMC2, LOC126805948 | | not provided | Likely benign (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155556
- GRCh38:
- Chr1:183186421
| LAMC2, LOC126805948 | | Junctional epidermolysis bullosa, not provided | Conflicting interpretations of pathogenicity (Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:183155559
- GRCh38:
- Chr1:183186424
| LAMC2, LOC126805948 | | not provided | Likely benign (Jan 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155561
- GRCh38:
- Chr1:183186426
| LAMC2, LOC126805948 | R25K | Inborn genetic diseases | Uncertain significance (Aug 8, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155562
- GRCh38:
- Chr1:183186427
| LAMC2, LOC126805948 | | not provided | Likely benign (Oct 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155565
- GRCh38:
- Chr1:183186430
| LAMC2, LOC126805948 | | not provided | Uncertain significance (Feb 16, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183155573
- GRCh38:
- Chr1:183186438
| LAMC2, LOC126805948 | | not provided | Likely benign (Dec 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155573
- GRCh38:
- Chr1:183186438
| LAMC2, LOC126805948 | | not provided | Likely benign (Jul 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155573
- GRCh38:
- Chr1:183186438
| LAMC2, LOC126805948 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155574
- GRCh38:
- Chr1:183186439
| LAMC2, LOC126805948 | | not provided | Likely benign (Jan 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155576
- GRCh38:
- Chr1:183186441
| LAMC2, LOC126805948 | | not provided | Likely benign (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155700
- GRCh38:
- Chr1:183186565
| LAMC2, LOC126805948 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155716
- GRCh38:
- Chr1:183186581
| LAMC2, LOC126805948 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155717
- GRCh38:
- Chr1:183186582
| LAMC2, LOC126805948 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183155778
- GRCh38:
- Chr1:183186643
| LAMC2, LOC126805948 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183176970-183176971
- GRCh38:
- Chr1:183207835-183207836
| LAMC2 | | not provided | Benign (May 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183176970-183176971
- GRCh38:
- Chr1:183207835-183207836
| LAMC2 | | not provided | Benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183176970-183176971
- GRCh38:
- Chr1:183207835-183207836
| LAMC2 | | not provided | Benign (Jun 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183176971
- GRCh38:
- Chr1:183207836
| LAMC2 | | not provided | Benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177007
- GRCh38:
- Chr1:183207872
| LAMC2 | | not provided | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177009
- GRCh38:
- Chr1:183207874
| LAMC2 | | not provided | Likely benign (Nov 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177010
- GRCh38:
- Chr1:183207875
| LAMC2 | | not provided, Junctional epidermolysis bullosa | Conflicting interpretations of pathogenicity (Oct 31, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:183177011
- GRCh38:
- Chr1:183207876
| LAMC2 | | not provided | Likely benign (Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177012
- GRCh38:
- Chr1:183207877
| LAMC2 | | not provided | Likely benign (Jun 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177014
- GRCh38:
- Chr1:183207879
| LAMC2 | | not provided | Likely pathogenic (Feb 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177014
- GRCh38:
- Chr1:183207879
| LAMC2 | | not provided, Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (Jun 30, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183177016
- GRCh38:
- Chr1:183207881
| LAMC2 | V27A | Junctional epidermolysis bullosa | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177017
- GRCh38:
- Chr1:183207882
| LAMC2 | | not provided | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177023
- GRCh38:
- Chr1:183207888
| LAMC2 | | not provided | Likely benign (Feb 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177032
- GRCh38:
- Chr1:183207897
| LAMC2 | | not provided | Likely benign (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177050
- GRCh38:
- Chr1:183207915
| LAMC2 | | not provided | Likely benign (Apr 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177059
- GRCh38:
- Chr1:183207924
| LAMC2 | | not provided | Likely benign (Nov 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177067-183177070
- GRCh38:
- Chr1:183207932-183207935
| LAMC2 | R45fs | not provided, Junctional epidermolysis bullosa gravis of Herlitz | Pathogenic/Likely pathogenic (Mar 14, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183177069
- GRCh38:
- Chr1:183207934
| LAMC2 | R45G | Inborn genetic diseases | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177071
- GRCh38:
- Chr1:183207936
| LAMC2 | | not provided | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177072
- GRCh38:
- Chr1:183207937
| LAMC2 | Q46* | not provided | Pathogenic (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177080-183177081
- GRCh38:
- Chr1:183207945-183207946
| LAMC2 | F51fs | not provided, LAMC2-related condition, Junctional epidermolysis bullosa gravis of Herlitz
| Pathogenic/Likely pathogenic (May 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183177105
- GRCh38:
- Chr1:183207970
| LAMC2 | N57D | Inborn genetic diseases | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177107
- GRCh38:
- Chr1:183207972
| LAMC2 | | not provided | Likely benign (Jul 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177111
- GRCh38:
- Chr1:183207976
| LAMC2 | N59fs | Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177115-183177116
- GRCh38:
- Chr1:183207980-183207981
| LAMC2 | D61* | Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (Jun 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177116
- GRCh38:
- Chr1:183207981
| LAMC2 | | not provided | Likely benign (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177131
- GRCh38:
- Chr1:183207996
| LAMC2 | C65* | Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177132
- GRCh38:
- Chr1:183207997
| LAMC2 | E66K | Junctional epidermolysis bullosa, not provided, Junctional epidermolysis bullosa, non-Herlitz type
| Conflicting interpretations of pathogenicity (Apr 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:183177137
- GRCh38:
- Chr1:183208002
| LAMC2 | | not provided | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177155
- GRCh38:
- Chr1:183208020
| LAMC2 | Y73* | Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (Jul 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177158
- GRCh38:
- Chr1:183208023
| LAMC2 | | not provided | Likely benign (Apr 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177158
- GRCh38:
- Chr1:183208023
| LAMC2 | | not provided | Likely benign (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177168
- GRCh38:
- Chr1:183208033
| LAMC2 | R78G | Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177188
- GRCh38:
- Chr1:183208053
| LAMC2 | C84* | Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177190
- GRCh38:
- Chr1:183208055
| LAMC2 | N85S | Inborn genetic diseases | Uncertain significance (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177191
- GRCh38:
- Chr1:183208056
| LAMC2 | | not provided | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177193-183177194
- GRCh38:
- Chr1:183208058-183208059
| LAMC2 | N87* | not provided | Pathogenic (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177205
- GRCh38:
- Chr1:183208070
| LAMC2 | | not provided, Junctional epidermolysis bullosa gravis of Herlitz | Likely pathogenic (Mar 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183177213
- GRCh38:
- Chr1:183208078
| LAMC2 | | not provided | Likely benign (Nov 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177214
- GRCh38:
- Chr1:183208079
| LAMC2 | | not provided | Likely benign (May 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177218
- GRCh38:
- Chr1:183208083
| LAMC2 | | Junctional epidermolysis bullosa, not specified, not provided, Junctional epidermolysis bullosa, non-Herlitz type, Junctional epidermolysis bullosa gravis of Herlitz | Benign (Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183177243
- GRCh38:
- Chr1:183208108
| LAMC2 | | not provided | Benign (May 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177257
- GRCh38:
- Chr1:183208122
| LAMC2 | | not provided | Benign (May 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183177454
- GRCh38:
- Chr1:183208319
| LAMC2 | | not provided | Benign (Nov 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183184428
- GRCh38:
- Chr1:183215293
| LAMC2 | | not provided | Benign (May 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183184524
- GRCh38:
- Chr1:183215389
| LAMC2 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr1:183184573
- GRCh38:
- Chr1:183215438
| LAMC2 | | not provided, Junctional epidermolysis bullosa | Benign/Likely benign (Apr 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:183184587
- GRCh38:
- Chr1:183215452
| LAMC2 | | not provided | Likely pathogenic (Oct 9, 2022) | criteria provided, single submitter |