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Items: 1 to 100 of 909

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Nov 27, 2013)
no assertion criteria provided
2.
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 casesPathogenicno assertion criteria provided
3.
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 casesPathogenic
(Aug 27, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesPathogenic
(Aug 18, 2010)
no assertion criteria provided
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr1:183155211
GRCh38:
Chr1:183186076
LAMC2, LOC126805948Junctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr1:183155226
GRCh38:
Chr1:183186091
LAMC2, LOC126805948Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr1:183155228
GRCh38:
Chr1:183186093
LAMC2, LOC126805948Junctional epidermolysis bullosa, not providedBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:183155232
GRCh38:
Chr1:183186097
LAMC2, LOC126805948Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr1:183155305
GRCh38:
Chr1:183186170
LAMC2, LOC126805948not provided, Junctional epidermolysis bullosaBenign
(Nov 12, 2018)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr1:183155348
GRCh38:
Chr1:183186213
LAMC2, LOC126805948Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr1:183155399
GRCh38:
Chr1:183186264
LAMC2, LOC126805948Junctional 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
15.
GRCh37:
Chr1:183155409
GRCh38:
Chr1:183186274
LAMC2, LOC126805948Junctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:183155449
GRCh38:
Chr1:183186314
LOC126805948, LAMC2Junctional epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr1:183155450
GRCh38:
Chr1:183186315
LAMC2, LOC126805948not provided, Junctional epidermolysis bullosaBenign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr1:183155473
GRCh38:
Chr1:183186338
LAMC2, LOC126805948Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr1:183155482
GRCh38:
Chr1:183186347
LOC126805948, LAMC2Junctional 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
20.
GRCh37:
Chr1:183155488
GRCh38:
Chr1:183186353
LAMC2, LOC126805948M1VJunctional epidermolysis bullosa, Junctional epidermolysis bullosa gravis of HerlitzConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr1:183155489
GRCh38:
Chr1:183186354
LAMC2, LOC126805948M1Tnot providedPathogenic
(Mar 28, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr1:183155490
GRCh38:
Chr1:183186355
LAMC2, LOC126805948M1IJunctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Jan 11, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr1:183155493
GRCh38:
Chr1:183186358
LAMC2, LOC126805948not providedLikely benign
(Mar 3, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:183155496
GRCh38:
Chr1:183186361
LAMC2, LOC126805948not providedLikely benign
(Dec 12, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr1:183155496
GRCh38:
Chr1:183186361
LAMC2, LOC126805948not providedLikely benign
(Sep 9, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:183155501
GRCh38:
Chr1:183186366
LAMC2, LOC126805948W5*not providedLikely pathogenic
(Dec 21, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:183155508
GRCh38:
Chr1:183186373
LAMC2, LOC126805948not providedLikely benign
(Mar 5, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:183155517
GRCh38:
Chr1:183186382
LAMC2, LOC126805948not providedLikely benign
(Apr 14, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr1:183155523
GRCh38:
Chr1:183186388
LAMC2, LOC126805948not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:183155526
GRCh38:
Chr1:183186391
LAMC2, LOC126805948not providedLikely benign
(Dec 27, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr1:183155526
GRCh38:
Chr1:183186391
LAMC2, LOC126805948not providedLikely benign
(Jan 16, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr1:183155535
GRCh38:
Chr1:183186400
LAMC2, LOC126805948not provided, Junctional epidermolysis bullosaConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr1:183155535
GRCh38:
Chr1:183186400
LAMC2, LOC126805948not providedBenign
(Oct 3, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:183155538
GRCh38:
Chr1:183186403
LAMC2, LOC126805948not providedLikely benign
(May 17, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:183155545
GRCh38:
Chr1:183186410
LAMC2, LOC126805948R20WInborn genetic diseasesUncertain significance
(Jan 26, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:183155547
GRCh38:
Chr1:183186412
LAMC2, LOC126805948not providedLikely benign
(Dec 9, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr1:183155553
GRCh38:
Chr1:183186418
LAMC2, LOC126805948not providedLikely benign
(Oct 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:183155556
GRCh38:
Chr1:183186421
LAMC2, LOC126805948Junctional epidermolysis bullosa, not providedConflicting interpretations of pathogenicity
(Sep 27, 2022)
criteria provided, conflicting interpretations
39.
GRCh37:
Chr1:183155559
GRCh38:
Chr1:183186424
LAMC2, LOC126805948not providedLikely benign
(Jan 21, 2020)
criteria provided, single submitter
40.
GRCh37:
Chr1:183155561
GRCh38:
Chr1:183186426
LAMC2, LOC126805948R25KInborn genetic diseasesUncertain significance
(Aug 8, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr1:183155562
GRCh38:
Chr1:183186427
LAMC2, LOC126805948not providedLikely benign
(Oct 22, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr1:183155565
GRCh38:
Chr1:183186430
LAMC2, LOC126805948not providedUncertain significance
(Feb 16, 2023)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr1:183155573
GRCh38:
Chr1:183186438
LAMC2, LOC126805948not providedLikely benign
(Dec 22, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr1:183155573
GRCh38:
Chr1:183186438
LAMC2, LOC126805948not providedLikely benign
(Jul 25, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr1:183155573
GRCh38:
Chr1:183186438
LAMC2, LOC126805948not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:183155574
GRCh38:
Chr1:183186439
LAMC2, LOC126805948not providedLikely benign
(Jan 18, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr1:183155576
GRCh38:
Chr1:183186441
LAMC2, LOC126805948not providedLikely benign
(Oct 18, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr1:183155700
GRCh38:
Chr1:183186565
LAMC2, LOC126805948not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr1:183155716
GRCh38:
Chr1:183186581
LAMC2, LOC126805948not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr1:183155717
GRCh38:
Chr1:183186582
LAMC2, LOC126805948not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr1:183155778
GRCh38:
Chr1:183186643
LAMC2, LOC126805948not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr1:183176970-183176971
GRCh38:
Chr1:183207835-183207836
LAMC2not providedBenign
(May 21, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr1:183176970-183176971
GRCh38:
Chr1:183207835-183207836
LAMC2not providedBenign
(May 13, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr1:183176970-183176971
GRCh38:
Chr1:183207835-183207836
LAMC2not providedBenign
(Jun 4, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr1:183176971
GRCh38:
Chr1:183207836
LAMC2not providedBenign
(May 13, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr1:183177007
GRCh38:
Chr1:183207872
LAMC2not providedLikely benign
(Apr 11, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr1:183177009
GRCh38:
Chr1:183207874
LAMC2not providedLikely benign
(Nov 21, 2020)
criteria provided, single submitter
58.
GRCh37:
Chr1:183177010
GRCh38:
Chr1:183207875
LAMC2not provided, Junctional epidermolysis bullosaConflicting interpretations of pathogenicity
(Oct 31, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr1:183177011
GRCh38:
Chr1:183207876
LAMC2not providedLikely benign
(Mar 11, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:183177012
GRCh38:
Chr1:183207877
LAMC2not providedLikely benign
(Jun 14, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr1:183177014
GRCh38:
Chr1:183207879
LAMC2not providedLikely pathogenic
(Feb 19, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr1:183177014
GRCh38:
Chr1:183207879
LAMC2not provided, Junctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Jun 30, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:183177016
GRCh38:
Chr1:183207881
LAMC2V27AJunctional epidermolysis bullosaUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr1:183177017
GRCh38:
Chr1:183207882
LAMC2not providedLikely benign
(Feb 5, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:183177023
GRCh38:
Chr1:183207888
LAMC2not providedLikely benign
(Feb 17, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr1:183177032
GRCh38:
Chr1:183207897
LAMC2not providedLikely benign
(Oct 1, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:183177050
GRCh38:
Chr1:183207915
LAMC2not providedLikely benign
(Apr 9, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:183177059
GRCh38:
Chr1:183207924
LAMC2not providedLikely benign
(Nov 10, 2020)
criteria provided, single submitter
69.
GRCh37:
Chr1:183177067-183177070
GRCh38:
Chr1:183207932-183207935
LAMC2R45fsnot provided, Junctional epidermolysis bullosa gravis of HerlitzPathogenic/Likely pathogenic
(Mar 14, 2019)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr1:183177069
GRCh38:
Chr1:183207934
LAMC2R45GInborn genetic diseasesUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:183177071
GRCh38:
Chr1:183207936
LAMC2not providedLikely benign
(Mar 18, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:183177072
GRCh38:
Chr1:183207937
LAMC2Q46*not providedPathogenic
(Sep 2, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr1:183177080-183177081
GRCh38:
Chr1:183207945-183207946
LAMC2F51fsnot provided, LAMC2-related condition, Junctional epidermolysis bullosa gravis of Herlitz
Pathogenic/Likely pathogenic
(May 30, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:183177105
GRCh38:
Chr1:183207970
LAMC2N57DInborn genetic diseasesUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:183177107
GRCh38:
Chr1:183207972
LAMC2not providedLikely benign
(Jul 7, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr1:183177111
GRCh38:
Chr1:183207976
LAMC2N59fsJunctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Jan 2, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:183177115-183177116
GRCh38:
Chr1:183207980-183207981
LAMC2D61*Junctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Jun 6, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr1:183177116
GRCh38:
Chr1:183207981
LAMC2not providedLikely benign
(Nov 2, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:183177131
GRCh38:
Chr1:183207996
LAMC2C65*Junctional epidermolysis bullosa gravis of HerlitzLikely pathogeniccriteria provided, single submitter
80.
GRCh37:
Chr1:183177132
GRCh38:
Chr1:183207997
LAMC2E66KJunctional epidermolysis bullosa, not provided, Junctional epidermolysis bullosa, non-Herlitz type
Conflicting interpretations of pathogenicity
(Apr 3, 2023)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr1:183177137
GRCh38:
Chr1:183208002
LAMC2not providedLikely benign
(May 27, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:183177155
GRCh38:
Chr1:183208020
LAMC2Y73*Junctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Jul 1, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr1:183177158
GRCh38:
Chr1:183208023
LAMC2not providedLikely benign
(Apr 5, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr1:183177158
GRCh38:
Chr1:183208023
LAMC2not providedLikely benign
(Mar 9, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr1:183177168
GRCh38:
Chr1:183208033
LAMC2R78GInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr1:183177188
GRCh38:
Chr1:183208053
LAMC2C84*Junctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(May 26, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr1:183177190
GRCh38:
Chr1:183208055
LAMC2N85SInborn genetic diseasesUncertain significance
(Aug 16, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr1:183177191
GRCh38:
Chr1:183208056
LAMC2not providedLikely benign
(Aug 6, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:183177193-183177194
GRCh38:
Chr1:183208058-183208059
LAMC2N87*not providedPathogenic
(Apr 21, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr1:183177205
GRCh38:
Chr1:183208070
LAMC2not provided, Junctional epidermolysis bullosa gravis of HerlitzLikely pathogenic
(Mar 1, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:183177213
GRCh38:
Chr1:183208078
LAMC2not providedLikely benign
(Nov 26, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr1:183177214
GRCh38:
Chr1:183208079
LAMC2not providedLikely benign
(May 31, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr1:183177218
GRCh38:
Chr1:183208083
LAMC2Junctional 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
94.
GRCh37:
Chr1:183177243
GRCh38:
Chr1:183208108
LAMC2not providedBenign
(May 12, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr1:183177257
GRCh38:
Chr1:183208122
LAMC2not providedBenign
(May 13, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr1:183177454
GRCh38:
Chr1:183208319
LAMC2not providedBenign
(Nov 12, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr1:183184428
GRCh38:
Chr1:183215293
LAMC2not providedBenign
(May 14, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr1:183184524
GRCh38:
Chr1:183215389
LAMC2not providedBenign
(Mar 3, 2015)
criteria provided, single submitter
99.
GRCh37:
Chr1:183184573
GRCh38:
Chr1:183215438
LAMC2not provided, Junctional epidermolysis bullosaBenign/Likely benign
(Apr 1, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr1:183184587
GRCh38:
Chr1:183215452
LAMC2not providedLikely pathogenic
(Oct 9, 2022)
criteria provided, single submitter
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