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Items: 1 to 100 of 179

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:
Chr1:176565098-196270818
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
5.
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
6.
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
7.
GRCh37:
Chr1:184857562-186591462
GRCh38:
Chr1:184888428-186622330
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
8.
GRCh37:
Chr1:185928835-187713022
GRCh38:
Chr1:185959703-187743891
See casesUncertain significance
(Jan 16, 2012)
no assertion criteria provided
9.
GRCh37:
Chr1:185947031-187681865
GRCh38:
Chr1:185977899-187712734
See casesUncertain significance
(Apr 29, 2013)
no assertion criteria provided
10.
GRCh37:
Chr1:186265948
GRCh38:
Chr1:186296816
PRG4Camptodactyly-arthropathy-coxa vara-pericarditis syndromeBenign
(Oct 25, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr1:186269344
GRCh38:
Chr1:186300212
PRG4not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr1:186270726
GRCh38:
Chr1:186301594
PRG4L27V, L68VInborn genetic diseasesUncertain significance
(May 10, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr1:186270791
GRCh38:
Chr1:186301659
PRG4not providedLikely benign
(Dec 1, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:186270801
GRCh38:
Chr1:186301669
PRG4Y52D, Y93DInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:186270823
GRCh38:
Chr1:186301691
PRG4Y100F, Y59FInborn genetic diseasesUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr1:186270825
GRCh38:
Chr1:186301693
PRG4E101*, E60*Camptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Mar 22, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:186270832
GRCh38:
Chr1:186301700
PRG4F103S, F62SCamptodactyly-arthropathy-coxa vara-pericarditis syndromeUncertain significance
(Jul 16, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr1:186270840
GRCh38:
Chr1:186301708
PRG4E106K, E65KInborn genetic diseasesUncertain significance
(Mar 29, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr1:186273261
GRCh38:
Chr1:186304129
PRG4P114Q, P73QInborn genetic diseasesUncertain significance
(Jul 14, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr1:186273274
GRCh38:
Chr1:186304142
PRG4K118N, K77NInborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr1:186273323
GRCh38:
Chr1:186304191
PRG4R135G, R94Gnot providedUncertain significance
(May 1, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:186273994
GRCh38:
Chr1:186304862
PRG4R180W, R139Wnot specified, Camptodactyly-arthropathy-coxa vara-pericarditis syndromeBenignno assertion criteria provided
23.
GRCh37:
Chr1:186273995
GRCh38:
Chr1:186304863
PRG4R180Q, R139QInborn genetic diseasesUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr1:186274016
GRCh38:
Chr1:186304884
PRG4N146T, N187TInborn genetic diseasesUncertain significance
(Nov 5, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr1:186275510
GRCh38:
Chr1:186306378
PRG4D179A, D177A, D220A, D127A, D86Anot providedBenign
(May 8, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr1:186275699
GRCh38:
Chr1:186306567
PRG4T190I, T242I, T149I, T240I, T283IInborn genetic diseasesUncertain significance
(Nov 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:186275700
GRCh38:
Chr1:186306568
PRG4V191fs, V284fs, V241fs, V243fs, V150fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Feb 4, 2018)
no assertion criteria provided
28.
GRCh37:
Chr1:186275716-186275718
GRCh38:
Chr1:186306584-186306586
PRG4T158del, T199del, T249del, T251del, T292delnot providedBenign
(Jan 31, 2020)
criteria provided, single submitter
29.
GRCh37:
Chr1:186275730
GRCh38:
Chr1:186306598
PRG4not providedLikely benign
(Mar 1, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr1:186275756
GRCh38:
Chr1:186306624
PRG4E209V, E259V, E168V, E261V, E302VInborn genetic diseasesUncertain significance
(Aug 14, 2023)
criteria provided, single submitter
31.
GRCh37:
Chr1:186275770
GRCh38:
Chr1:186306638
PRG4A214T, A266T, A307T, A173T, A264TInborn genetic diseasesUncertain significance
(Jul 12, 2023)
criteria provided, single submitter
32.
GRCh37:
Chr1:186275782
GRCh38:
Chr1:186306650
PRG4Q177K, Q270K, Q218K, Q268K, Q311KInborn genetic diseasesUncertain significance
(Apr 8, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr1:186275784
GRCh38:
Chr1:186306652
PRG4Q177H, Q268H, Q270H, Q218H, Q311HInborn genetic diseasesUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:186275813
GRCh38:
Chr1:186306681
PRG4L187*, L228*, L278*, L280*, L321*Camptodactyly-arthropathy-coxa vara-pericarditis syndromeLikely pathogeniccriteria provided, single submitter
35.
GRCh37:
Chr1:186275829
GRCh38:
Chr1:186306697
PRG4not providedLikely benign
(May 1, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr1:186275847
GRCh38:
Chr1:186306715
PRG4not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr1:186275857
GRCh38:
Chr1:186306725
PRG4E202K, E243K, E293K, E295K, E336Knot providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr1:186275980-186275981
GRCh38:
Chr1:186306848-186306849
PRG4K245fs, K286fs, K336fs, K338fs, K379fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogeniccriteria provided, single submitter
39.
GRCh37:
Chr1:186275983
GRCh38:
Chr1:186306851
PRG4P337S, P244S, P285S, P335S, P378SInborn genetic diseasesUncertain significance
(Jun 7, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr1:186276043
GRCh38:
Chr1:186306911
PRG4T265fs, T358fs, T399fs, T306fs, T356fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Feb 4, 2018)
no assertion criteria provided
41.
GRCh37:
Chr1:186276062
GRCh38:
Chr1:186306930
PRG4P361R, P270R, P363R, P404R, P311RInborn genetic diseasesUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:186276077
GRCh38:
Chr1:186306945
PRG4P366L, P368L, P316L, P275L, P409LInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:186276113
GRCh38:
Chr1:186306981
PRG4A287V, A328V, A378V, A380V, A421VInborn genetic diseasesUncertain significance
(Apr 26, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr1:186276123
GRCh38:
Chr1:186306991
PRG4not providedLikely benign
(Feb 1, 2023)
criteria provided, single submitter
45.
GRCh37:
Chr1:186276157
GRCh38:
Chr1:186307025
PRG4A302T, A393T, A395T, A343T, A436TInborn genetic diseasesUncertain significance
(Mar 6, 2023)
criteria provided, single submitter
46.
GRCh37:
Chr1:186276166-186276167
GRCh38:
Chr1:186307034-186307035
PRG4K307fs, K348fs, K398fs, K400fs, K441fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Oct 4, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr1:186276268-186276291
GRCh38:
Chr1:186307136-186307159
PRG4not providedBenign
(Aug 18, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr1:186276272
GRCh38:
Chr1:186307140
PRG4P340L, P431L, P381L, P433L, P474LInborn genetic diseasesUncertain significance
(Feb 7, 2023)
criteria provided, single submitter
49.
GRCh37:
Chr1:186276292
GRCh38:
Chr1:186307160
PRG4E481K, E388K, E440K, E347K, E438KInborn genetic diseasesLikely benign
(Mar 31, 2023)
criteria provided, single submitter
50.
GRCh37:
Chr1:186276308
GRCh38:
Chr1:186307176
PRG4A393V, A352V, A486V, A443V, A445VInborn genetic diseasesUncertain significance
(Mar 20, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr1:186276401
GRCh38:
Chr1:186307269
PRG4T517I, T383I, T474I, T476I, T424IInborn genetic diseasesUncertain significance
(Mar 7, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr1:186276427
GRCh38:
Chr1:186307295
PRG4T485S, T433S, T483S, T392S, T526SInborn genetic diseasesUncertain significance
(Mar 21, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr1:186276429
GRCh38:
Chr1:186307297
PRG4not providedLikely benign
(Mar 1, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr1:186276460
GRCh38:
Chr1:186307328
PRG4P496T, P444T, P494T, P403T, P537TInborn genetic diseasesUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr1:186276519
GRCh38:
Chr1:186307387
PRG4not providedLikely benign
(Jan 1, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr1:186276520
GRCh38:
Chr1:186307388
PRG4T464P, T557P, T423P, T514P, T516PInborn genetic diseasesLikely benign
(Aug 13, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr1:186276549
GRCh38:
Chr1:186307417
PRG4E433fs, E474fs, E524fs, E526fs, E567fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogeniccriteria provided, single submitter
58.
GRCh37:
Chr1:186276588
GRCh38:
Chr1:186307456
PRG4not provided, Camptodactyly-arthropathy-coxa vara-pericarditis syndromeBenign/Likely benignno assertion criteria provided
59.
GRCh37:
Chr1:186276608
GRCh38:
Chr1:186307476
PRG4P493L, P452L, P545L, P543L, P586LInborn genetic diseasesUncertain significance
(May 16, 2023)
criteria provided, single submitter
60.
GRCh37:
Chr1:186276661
GRCh38:
Chr1:186307529
PRG4T470A, T511A, T561A, T563A, T604ACamptodactyly-arthropathy-coxa vara-pericarditis syndromeBenign
(Oct 25, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr1:186276662
GRCh38:
Chr1:186307530
PRG4T561I, T511I, T563I, T470I, T604IInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr1:186276664
GRCh38:
Chr1:186307532
PRG4P512S, P562S, P564S, P471S, P605SInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr1:186276707
GRCh38:
Chr1:186307575
PRG4T526N, T619N, T485N, T578N, T576NInborn genetic diseasesUncertain significance
(Jun 26, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr1:186276721
GRCh38:
Chr1:186307589
PRG4L490F, L581F, L583F, L531F, L624FInborn genetic diseasesUncertain significance
(Aug 29, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:186276724
GRCh38:
Chr1:186307592
PRG4T532P, T584P, T582P, T491P, T625PInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:186276738-186276742
GRCh38:
Chr1:186307606-186307610
PRG4not providedLikely benign
(Jan 31, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr1:186276748
GRCh38:
Chr1:186307616
PRG4A499P, A633P, A592P, A540P, A590PInborn genetic diseasesUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr1:186276761-186276762
GRCh38:
Chr1:186307629-186307630
PRG4P637fs, P503fs, P544fs, P594fs, P596fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Jan 3, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr1:186276762
GRCh38:
Chr1:186307630
PRG4E504fs, E545fs, E595fs, E638fs, E597fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Feb 4, 2018)
no assertion criteria provided
70.
GRCh37:
Chr1:186276786
GRCh38:
Chr1:186307654
PRG4not providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:186276786
GRCh38:
Chr1:186307654
PRG4E512fs, E553fs, E603fs, E605fs, E646fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(May 9, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr1:186276830
GRCh38:
Chr1:186307698
PRG4T567N, T619N, T660N, T617N, T526NInborn genetic diseasesUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:186276841
GRCh38:
Chr1:186307709
PRG4P530A, P664A, P571A, P621A, P623AInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:186276843
GRCh38:
Chr1:186307711
PRG4not providedBenign
(Aug 16, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr1:186276866
GRCh38:
Chr1:186307734
PRG4A538V, A629V, A672V, A579V, A631VInborn genetic diseasesUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:186276895
GRCh38:
Chr1:186307763
PRG4P639S, P589S, P548S, P682S, P641SInborn genetic diseasesUncertain significance
(Jun 12, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr1:186276910
GRCh38:
Chr1:186307778
PRG4E553K, E644K, E646K, E594K, E687KInborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:186277028
GRCh38:
Chr1:186307896
PRG4K683R, K592R, K633R, K685R, K726RInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr1:186277040
GRCh38:
Chr1:186307908
PRG4P730L, P596L, P687L, P637L, P689LInborn genetic diseasesUncertain significance
(Dec 5, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:186277066
GRCh38:
Chr1:186307934
PRG4K698*, K646*, K696*, K605*, K739*Camptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Feb 4, 2018)
no assertion criteria provided
81.
GRCh37:
Chr1:186277067
GRCh38:
Chr1:186307935
PRG4K739R, K605R, K696R, K646R, K698RInborn genetic diseasesUncertain significance
(Feb 28, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr1:186277088
GRCh38:
Chr1:186307956
PRG4not specifiedBenignno assertion criteria provided
83.
GRCh37:
Chr1:186277096
GRCh38:
Chr1:186307964
PRG4A616fs, A657fs, A707fs, A709fs, A750fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromeLikely pathogeniccriteria provided, single submitter
84.
GRCh37:
Chr1:186277099
GRCh38:
Chr1:186307967
PRG4A616T, A657T, A707T, A709T, A750Tnot providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr1:186277113
GRCh38:
Chr1:186307981
PRG4not providedLikely benign
(May 1, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr1:186277137
GRCh38:
Chr1:186308005
PRG4not providedLikely benign
(Oct 1, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr1:186277276
GRCh38:
Chr1:186308144
PRG4G675W, G809W, G716W, G768W, G766WInborn genetic diseasesUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
88.
GRCh37:
Chr1:186277300
GRCh38:
Chr1:186308168
PRG4K683E, K817E, K724E, K774E, K776EInborn genetic diseasesLikely benign
(Jun 24, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr1:186277304-186277327
GRCh38:
Chr1:186308172-186308195
PRG4not providedUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr1:186277306
GRCh38:
Chr1:186308174
PRG4A819T, A726T, A776T, A778T, A685TInborn genetic diseasesUncertain significance
(Aug 4, 2023)
criteria provided, single submitter
91.
GRCh37:
Chr1:186277307
GRCh38:
Chr1:186308175
PRG4A776V, A778V, A819V, A685V, A726VInborn genetic diseasesUncertain significance
(Apr 4, 2023)
criteria provided, single submitter
92.
GRCh37:
Chr1:186277323
GRCh38:
Chr1:186308191
PRG4K824N, K731N, K690N, K781N, K783NInborn genetic diseasesUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr1:186277331
GRCh38:
Chr1:186308199
PRG4A693V, A734V, A827V, A786V, A784VInborn genetic diseasesUncertain significance
(Feb 7, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr1:186277360
GRCh38:
Chr1:186308228
PRG4T703A, T794A, T796A, T744A, T837AInborn genetic diseasesUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
95.
GRCh37:
Chr1:186277367
GRCh38:
Chr1:186308235
PRG4P705H, P796H, P798H, P839H, P746HInborn genetic diseasesUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr1:186277437
GRCh38:
Chr1:186308305
PRG4not providedLikely benign
(May 1, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr1:186277529
GRCh38:
Chr1:186308397
PRG4P759R, P852R, P893R, P800R, P850RInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr1:186277568
GRCh38:
Chr1:186308436
PRG4A772V, A813V, A863V, A865V, A906VSee casesLikely benign
(Sep 1, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr1:186277611-186277614
GRCh38:
Chr1:186308479-186308482
PRG4R788fs, R829fs, R879fs, R881fs, R922fsAbnormality of the skeletal systemLikely pathogenic
(Jul 10, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr1:186277656-186277660
GRCh38:
Chr1:186308524-186308528
PRG4K802fs, K843fs, K893fs, K895fs, K936fsCamptodactyly-arthropathy-coxa vara-pericarditis syndromePathogenic
(Nov 1, 1999)
no assertion criteria provided
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