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Search results

Items: 94

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:149825831-180236332
GRCh38:
Chr1:149854269-180267197
ABL2, ACKR1, ADAM15, ADAM15-EFNA4, ADAMTS4, ADAMTSL4, ADAMTSL4-AS1, ADAMTSL4-AS2, ADAR, ADCY10, AIM2, ALDH9A1, ANGPTL1, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, AQP10, ARHGAP30, ARHGEF11, ARHGEF2, ARHGEF2-AS2, ARNT, ASH1L, ASH1L-AS1, ASTN1, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, ATP8B2, AXDND1, B4GALT3, BCAN, BCAN-AS1, BCAN-AS2, BGLAP, BLZF1, BNIPL, BOLA1, BRINP2, C1orf105, C1orf220, C1orf226, C1orf43, C1orf54, C1orf56, C2CD4D, C2CD4D-AS1, CA14, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CCT3, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CDC42SE1, CELF3, CENPL, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CGN, CHRNB2, CHTOP, CIART, CKS1B, CLEC20A, CLK2, COP1, COPA, CRABP2, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CRYZL2P-SEC16B, CTSK, CTSS, CTXND2, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST1-AS1, DCST2, DDR2, DEDD, DENND4B, DNM3, DNM3-IT1, DNM3OS, DPM3, DPT, DUSP12, DUSP23, ECM1, EFNA1, EFNA3, EFNA4, EFNA4-EFNA3, ENSA, ENTREP3, ETV3, ETV3L, F11R, F5, FALEC, FAM163A, FAM20B, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FIRRM, FLAD1, FLG, FLG-AS1, FLG2, FLJ23867, FMO1, FMO2, FMO3, FMO4, GABPB2, GAS5, GAS5-AS1, GATAD2B, GBA1, GLMP, GOLPH3L, GON4L, GORAB, GORAB-AS1, GPA33, GPATCH4, GPR161, GPR52, H2AC20, H2AC21, H2BC21, H4C15, HAPLN2, HAX1, HCN3, HDGF, HORMAD1, HRNR, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, IL6R, IL6R-AS1, ILDR2, ILF2, INSRR, INTS3, IQGAP3, ISG20L2, ITLN1, ITLN2, IVL, JTB, KCNJ10, KCNJ9, KCNN3, KHDC4, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, KPLCE, KPRP, KRTCAP2, LAMTOR2, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCE7A, LELP1, LENEP, LHX4, LINC00302, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01527, LINC01645, LINC01657, LINC01675, LINC01681, LINC01704, LINC01741, LINC02772, LINC02819, LINC02988, LINGO4, LMNA, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100131107, LOC100505918, LOC100506023, LOC101928009, LOC101928034, LOC101928120, LOC101928177, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC106627981, LOC106627982, LOC107880064, LOC108251792, LOC108254671, LOC108281190, LOC110013312, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC110121221, LOC110121262, LOC111464988, LOC111556138, LOC111828496, LOC112543491, LOC112577492, LOC112577493, LOC112577494, LOC112577495, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC112577517, LOC113939980, LOC115801442, LOC115801443, LOC115801444, LOC115801445, LOC115801446, LOC115801447, LOC115801448, LOC115801449, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC115801456, LOC120766158, LOC120893159, LOC120893160, LOC120893161, LOC120893162, LOC120893163, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725054, LOC121725055, LOC121725056, LOC121725058, LOC121725059, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128421, LOC122128422, LOC122128423, LOC122128424, LOC122128425, LOC122128426, LOC122128427, LOC122128428, LOC122128429, LOC122128430, LOC122128431, LOC122128432, LOC122128433, LOC122128434, LOC122128435, LOC122128436, LOC122128437, LOC122128438, LOC122128439, LOC122128440, LOC122128441, LOC122128442, LOC122128443, LOC122128444, LOC122128445, LOC122128446, LOC122128447, LOC122128448, LOC122128449, LOC122128450, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC122149313, LOC122149314, LOC122149315, LOC122149316, LOC125312414, LOC126805855, LOC126805856, LOC126805857, LOC126805858, LOC126805859, LOC126805860, LOC126805861, LOC126805862, LOC126805863, LOC126805864, LOC126805865, LOC126805866, LOC126805867, LOC126805868, LOC126805869, LOC126805870, LOC126805871, LOC126805872, LOC126805873, LOC126805874, LOC126805875, LOC126805876, LOC126805877, LOC126805878, LOC126805879, LOC126805880, LOC126805881, LOC126805882, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, 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, LOC127814295, LOC128071543, LOC128772199, LOC128772200, LOC128772201, LOC128772202, LOC128772203, LOC128772204, LOC128772205, LOC128772206, LOC128772207, LOC128772208, LOC128772209, LOC128772210, LOC128772211, LOC128772212, LOC128772213, LOC128772214, LOC128772215, LOC128772216, LOC128772217, LOC128772218, LOC128772219, LOC128772220, LOC128772221, LOC128772222, LOC128772223, LOC128772224, LOC128772225, LOC128772226, LOC128772227, LOC128772228, LOC128772229, LOC128772230, LOC128772231, LOC128779115, LOC128781584, LOC128822934, LOC729867, LORICRIN, LRRC52, LRRC52-AS1, LRRC71, LY9, LYSMD1, MAEL, MCL1, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MGST3, MINDY1, MIR12116, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR190B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4257, MIR4258, MIR4259, MIR4424, MIR4654, MIR488, MIR5187, MIR554, MIR555, MIR556, MIR557, MIR5698, MIR6737, MIR6738, MIR6878, MIR765, MIR8083, MIR9-1, MIR9-1HG, MIR921, MIR92B, MLLT11, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPL24, MRPL9, MRPS14, MRPS21, MSTO1, MTMR11, MTX1, MUC1, MYOC, MYOCOS, NAXE, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NES, NHLH1, NIT1, NME7, NOS1AP, NPHS2, NPR1, NR1I3, NTMT2, NTRK1, NUF2, NUP210L, OAZ3, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, OTUD7B, PAPPA2, PAQR6, PBX1, PBX1-AS1, PBXIP1, PCP4L1, PEA15, PEAR1, PEX19, PFDN2, PGLYRP3, PGLYRP4, PI4KB, PIGC, PIGM, PIP5K1A, PKLR, PLEKHO1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POU2F1, PPOX, PRCC, PRDX6, PRDX6-AS1, PRPF3, PRR9, PRRC2C, PRRX1, PRUNE1, PSMB4, PSMD4, PYDC5, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RALGPS2, RALGPS2-AS1, RASAL2, RASAL2-AS1, RC3H1, RC3H1-DT, RCSD1, RFX5, RFX5-AS1, RGS4, RGS5, RGS5-AS1, RHBG, RIIAD1, RIT1, RORC, RPRD2, RPS27, RPTN, RUSC1, RUSC1-AS1, RXFP4, RXRG, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCARNA26A, SCARNA26B, SCARNA3, SCARNA4, SCNM1, SCYL3, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SEMA6C, SERPINC1, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, SHC1, SHE, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC27A3, SLC39A1, SLC50A1, SLC9C2, SMCP, SMG5, SMIM42, SNAPIN, SNHG28, SNORA103, SNORA58B, SNORA80E, SNORD13C, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SNX27, SOAT1, SPATA46, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRR5, SPTA1, SSR2, STYXL2, SUCO, SV2A, SYT11, TADA1, TAGLN2, TARS2, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TDRKH-AS1, TEX35, TEX50, THBS3, THBS3-AS1, THEM4, THEM5, TIPRL, TMCO1, TMCO1-AS1, TMEM79, TMOD4, TNFAIP8L2, TNFAIP8L2-SCNM1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TPM3, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRIM46, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TRX-CAT1-1, TSACC, TSTD1, TTC24, TUFT1, UAP1, UBAP2L, UBE2Q1, UBE2Q1-AS1, UBQLN4, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VHLL, VPS45, VPS72, VSIG8, XCL1, XCL2, YY1AP1, ZBTB37, ZBTB7B, ZNF687, ZNF687-AS1
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
2.
GRCh37:
Chr1:157717036-175990383
GRCh38:
Chr1:157747246-176021247
ACKR1, ADAMTS4, ADCY10, AIM2, ALDH9A1, ANKRD45, APCS, APOA2, ARHGAP30, ATF6, ATF6-DT, ATP1A2, ATP1A4, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf226, CACYBP, CADM3, CADM3-AS1, CASQ1, CCDC181, CCDC190, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD48, CD5L, CD84, CENPL, CFAP126, CFAP45, COP1, COPA, CREG1, CRP, DARS2, DCAF6, DCAF8, DCAF8-DT, DDR2, DEDD, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, DUSP23, F11R, F5, FAM78B, FAM78B-AS1, FASLG, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL6, FCRLA, FCRLB, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, ILDR2, ITLN1, ITLN2, KCNJ10, KCNJ9, KIAA0040, KIFAP3, KIRREL1, KIRREL1-IT1, KLHDC9, KLHL20, LINC00626, LINC00970, LINC01133, LINC01142, LINC01363, LINC01657, LINC01675, LINC01681, LINC01704, LINC02819, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928372, LOC101928565, LOC101928596, LOC105371458, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112543491, LOC112577503, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801450, LOC115801451, LOC115801452, LOC115801453, LOC115801454, LOC115801455, LOC120893164, LOC120893165, LOC120893166, LOC120893168, LOC121725060, LOC121725061, LOC121725062, LOC121725063, LOC121725064, LOC122128451, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC125312414, LOC126805883, LOC126805884, LOC126805885, LOC126805886, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LOC127814295, LOC729867, LRRC52, LRRC52-AS1, LY9, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR1843, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4259, MIR4654, MIR5187, MIR556, MIR557, MIR921, MNDA, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NHLH1, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, OR10J1, OR10J3, OR10J4, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, PBX1, PBX1-AS1, PCP4L1, PEA15, PEX19, PFDN2, PIGC, PIGM, POGK, POU2F1, PPOX, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, PYDC5, PYHIN1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCARNA3, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC9C2, SMIM42, SNHG28, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, SPTA1, STYXL2, SUCO, TADA1, TAGLN2, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRP-AGG2-1, TRP-CGG1-1, TRR-TCT4-1, TRV-CAC1-1, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VSIG8, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr1:159449677-166864323
GRCh38:
Chr1:159479887-166895086
LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC112543491, LOC112577506, LOC112577507, LOC112577508, LOC112577509, LOC115801452, LOC115801453, LOC120893164, LOC121725060, LOC121725061, LOC121725062, LOC122128452, LOC122128453, LOC122128454, LOC122128455, LOC122128456, LOC122128457, LOC122128458, LOC122128459, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC126805887, LOC126805888, LOC126805889, LOC126805890, LOC126805891, LOC126805892, LOC126805893, LOC126805894, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC127814295, LOC729867, LRRC52, LRRC52-AS1, LY9, MGST3, MIR3658, MIR4259, MIR4654, MIR5187, MIR556, MIR921, MPZ, NCSTN, NDUFS2, NECTIN4, NECTIN4-AS1, NHLH1, NIT1, NOS1AP, NR1I3, NUF2, OLFML2B, OR10J5, PBX1, PBX1-AS1, PCP4L1, PEA15, PEX19, PFDN2, PIGM, POGK, PPOX, RGS4, RGS5, RGS5-AS1, RXRG, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SNHG28, SPATA46, TADA1, TAGLN2, TMCO1, TMCO1-AS1, TOMM40L, TRD-GTC2-1, TRD-GTC2-2, TRD-GTC2-3, TRD-GTC2-4, TRD-GTC2-5, TRE-CTC1-2, TRE-CTC1-3, TRE-CTC1-4, TRE-CTC1-5, TRE-TTC4-2, TRG-GCC1-1, TRG-GCC1-2, TRG-GCC1-3, TRG-GCC1-4, TRG-GCC2-1, TRG-GCC4-1, TRG-TCC2-2, TRG-TCC2-3, TRG-TCC2-4, TRG-TCC2-5, TRG-TCC2-6, TRG-TCC4-1, TRL-CAA6-1, TRL-CAG1-1, TRL-CAG1-2, TRL-CAG1-3, TRL-CAG1-4, TRL-CAG1-5, TRL-CAG1-6, TRN-GTT1-1, TRN-GTT2-2, TRV-CAC1-1, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VANGL2, VSIG8, ADAMTS4, ALDH9A1, APCS, APOA2, ARHGAP30, ATF6, ATF6-DT, ATP1A2, ATP1A4, B4GALT3, C1orf226, CASQ1, CCDC190, CD244, CD48, CD84, CFAP126, CFAP45, COPA, CRP, DCAF8, DCAF8-DT, DDR2, DEDD, DUSP12, DUSP23, F11R, FAM78B, FAM78B-AS1, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL6, FCRLA, FCRLB, HSD17B7, HSPA6, IGSF8, IGSF9, ITLN1, ITLN2, KCNJ10, KCNJ9, KLHDC9, LINC01133, LINC01675, LINC02819, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC101928372, LOC108251792, LOC108281190, LOC110120762, LOC110121004
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:161710697-173934292
GRCh38:
Chr1:161740907-173965154
ADCY10, ALDH9A1, ANKRD45, ATF6, ATF6-DT, ATP1B1, BLZF1, C1orf105, C1orf226, CCDC181, CCDC190, CD247, CENPL, CREG1, DARS2, DCAF6, DDR2, DNM3, DNM3-IT1, DNM3OS, DPT, DUSP12, F5, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, HSD17B7, ILDR2, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577508, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725062, LOC121725063, LOC121725064, LOC122128460, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC125312414, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC127814295, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR4654, MIR556, MIR557, MIR921, MPC2, MPZL1, MROH9, MYOC, MYOCOS, NME7, NOS1AP, NTMT2, NUF2, OLFML2B, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RC3H1, RCSD1, RGS4, RGS5, RGS5-AS1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, SPATA46, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TRP-AGG2-1, TRP-CGG1-1, UAP1, UCK2, UHMK1, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr1:162009840-167449900
GRCh38:
Chr1:162040050-167480663
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr1:163352313-175846158
GRCh38:
Chr1:163382523-175877022
ADCY10, ALDH9A1, ANKRD45, ATP1B1, BLZF1, C1orf105, CACYBP, CCDC181, CD247, CENPL, CREG1, DARS2, DCAF6, DNM3, DNM3-IT1, DNM3OS, DPT, F5, FAM78B, FAM78B-AS1, FASLG, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GAS5-AS1, GORAB, GORAB-AS1, GPA33, GPR161, GPR52, ILDR2, KIAA0040, KIFAP3, KLHL20, LINC00626, LINC00970, LINC01142, LINC01363, LINC01675, LINC01681, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC100505918, LOC100506023, LOC101928565, LOC101928596, LOC108251792, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC110121105, LOC111464988, LOC112577509, LOC112577510, LOC112577511, LOC112577512, LOC112577513, LOC112577514, LOC112577515, LOC113939980, LOC115801454, LOC115801455, LOC120893165, LOC120893166, LOC120893168, LOC121725063, LOC121725064, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC122128471, LOC122128472, LOC122149292, LOC122149293, LOC122149294, LOC122149295, LOC122149296, LOC122149297, LOC122149307, LOC122149308, LOC122149309, LOC122149310, LOC122149311, LOC122149312, LOC125312414, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC126805905, LOC126805906, LOC126805907, LOC126805908, LOC126805909, LOC126805910, LOC126805911, LOC126805912, LOC126805913, LOC126805914, LOC126805915, LOC126805916, LOC126805917, LOC126805918, LOC126805919, LOC126805920, LOC126805921, LOC126805922, LOC126805923, LOC126805924, LOC126805925, LOC126805926, LOC126805927, LOC126805928, LRRC52, LRRC52-AS1, MAEL, METTL13, METTL18, MGST3, MIR1255B2, MIR1295A, MIR1295B, MIR199A2, MIR214, MIR3119-1, MIR3119-2, MIR3120, MIR3658, MIR557, MIR921, MPC2, MPZL1, MROH9, MRPS14, MYOC, MYOCOS, NME7, NTMT2, PBX1, PBX1-AS1, PIGC, POGK, POU2F1, PRDX6, PRDX6-AS1, PRRC2C, PRRX1, RABGAP1L, RABGAP1L-AS1, RABGAP1L-DT, RC3H1, RC3H1-DT, RCSD1, RXRG, SCYL3, SELE, SELL, SELP, SERPINC1, SFT2D2, SLC19A2, SLC9C2, SNORA103, SNORD44, SNORD47, SNORD74, SNORD75, SNORD76, SNORD77, SNORD78, SNORD79, SNORD80, SNORD81, STYXL2, SUCO, TADA1, TBX19, TEX50, TIPRL, TMCO1, TMCO1-AS1, TNFSF18, TNFSF4, TNN, TNR, TRP-AGG2-1, TRP-CGG1-1, UCK2, VAMP4, XCL1, XCL2, ZBTB37
See casesPathogenic
(Mar 19, 2013)
no assertion criteria provided
7.
GRCh37:
Chr1:164516783-165658640
GRCh38:
Chr1:164547546-165689403
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr1:164529091
GRCh38:
Chr1:164559854
PBX1H11Rnot providedUncertain significance
(Jul 9, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr1:164529111
GRCh38:
Chr1:164559874
PBX1G18*See casesPathogenic
(Apr 26, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr1:164529120
GRCh38:
Chr1:164559883
PBX1G21Snot providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr1:164529126
GRCh38:
Chr1:164559889
PBX1S23fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Oct 30, 2020)
criteria provided, single submitter
12.
GRCh37:
Chr1:164529137
GRCh38:
Chr1:164559900
PBX1not providedBenign
(Aug 22, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:164529151
GRCh38:
Chr1:164559914
PBX1G31Vnot providedLikely benign
(Sep 21, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr1:164529196
GRCh38:
Chr1:164559959
PBX1L47fsnot providedPathogenic
(Jun 10, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr1:164529204
GRCh38:
Chr1:164559967
PBX1Q49*Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Jul 25, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr1:164529246
GRCh38:
Chr1:164560009
PBX1A63S, R4Snot providedLikely benign
(Aug 10, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr1:164532475
GRCh38:
Chr1:164563238
PBX1Inborn genetic diseasesLikely benign
(Jun 17, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr1:164532547-164532550
GRCh38:
Chr1:164563310-164563313
PBX1not providedLikely pathogenic
(Oct 1, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr1:164532549
GRCh38:
Chr1:164563312
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Jun 30, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr1:164761715-164761716
GRCh38:
Chr1:164792478-164792479
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, not providedBenign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr1:164761742
GRCh38:
Chr1:164792505
PBX1R10*, R93*Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Sep 1, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr1:164761782-164761783
GRCh38:
Chr1:164792545-164792546
PBX1R107fs, R24fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(May 4, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr1:164761785
GRCh38:
Chr1:164792548
PBX1R107Q, R24QCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Oct 18, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr1:164761785
GRCh38:
Chr1:164792548
PBX1R107P, R24PCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(May 13, 2021)
no assertion criteria provided
25.
GRCh37:
Chr1:164761796
GRCh38:
Chr1:164792559
PBX1M111V, M28VCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr1:164761834-164761835
GRCh38:
Chr1:164792597-164792598
PBX1G42fs, G125fsnot providedPathogenic
(Mar 4, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr1:164761841-164761842
GRCh38:
Chr1:164792604-164792605
PBX1not providedUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr1:164761857
GRCh38:
Chr1:164792620
PBX1A131fs, A48fsnot providedPathogenic
(Feb 27, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr1:164761858-164761859
GRCh38:
Chr1:164792621-164792622
PBX1not providedUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr1:164761877-164761883
GRCh38:
Chr1:164792640-164792646
PBX1G138fs, G55fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Dec 12, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr1:164761887
GRCh38:
Chr1:164792650
PBX1S141*, S58*not providedPathogenic
(Jul 6, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr1:164761892
GRCh38:
Chr1:164792655
PBX1N143fs, N60fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Aug 25, 2017)
no assertion criteria provided
33.
GRCh37:
Chr1:164761968
GRCh38:
Chr1:164792731
PBX1Y168F, Y85Fnot providedUncertain significance
(May 15, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr1:164768926
GRCh38:
Chr1:164799689
PBX1not providedLikely benign
(Oct 19, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr1:164768934
GRCh38:
Chr1:164799697
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Aug 25, 2017)
no assertion criteria provided
36.
GRCh37:
Chr1:164768967
GRCh38:
Chr1:164799730
PBX1N181S, N98Snot providedUncertain significance
(Apr 20, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr1:164768970
GRCh38:
Chr1:164799733
PBX1L182P, L99Pnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr1:164768975
GRCh38:
Chr1:164799738
PBX1R184*, R101*Autism spectrum disorderPathogenic
(Aug 16, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr1:164769007
GRCh38:
Chr1:164799770
PBX1not providedLikely benign
(Jun 23, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr1:164769030-164769041
GRCh38:
Chr1:164799793-164799804
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Aug 1, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:164769040
GRCh38:
Chr1:164799803
PBX1R123fs, R206fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delaynot providedno assertion provided
42.
GRCh37:
Chr1:164769042-164769043
GRCh38:
Chr1:164799805-164799806
PBX1K124fs, K207fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Apr 17, 2019)
no assertion criteria provided
43.
GRCh37:
Chr1:164769052
GRCh38:
Chr1:164799815
PBX1S126R, S209Rnot providedUncertain significance
(Jan 27, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr1:164769055-164769056
GRCh38:
Chr1:164799818-164799819
PBX1I128fs, I211fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Nov 28, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:164769059
GRCh38:
Chr1:164799822
PBX1Q129*, Q212*Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Dec 10, 2019)
no assertion criteria provided
46.
GRCh37:
Chr1:164769071
GRCh38:
Chr1:164799834
PBX1K133*, K216*Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Mar 2, 2020)
criteria provided, single submitter
47.
GRCh37:
Chr1:164769086
GRCh38:
Chr1:164799849
PBX1E221*, E138*Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Jun 18, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr1:164769105
GRCh38:
Chr1:164799868
PBX1R227P, R144PCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Apr 26, 2018)
no assertion criteria provided
49.
GRCh37:
Chr1:164769110
GRCh38:
Chr1:164799873
PBX1R146*, R229*Inborn genetic diseasesPathogenic
(Sep 15, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr1:164769125
GRCh38:
Chr1:164799888
PBX1R151W, R234WCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayConflicting interpretations of pathogenicity
(Feb 19, 2022)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr1:164769126
GRCh38:
Chr1:164799889
PBX1R234Q, R151QCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Jan 4, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr1:164769126
GRCh38:
Chr1:164799889
PBX1R234P, R151PPBX1-related intellectual disability and pleiotropic developmental defectsLikely pathogenic
(Feb 28, 2019)
criteria provided, single submitter
53.
GRCh37:
Chr1:164769139
GRCh38:
Chr1:164799902
PBX1not provided, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayBenign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:164776780
GRCh38:
Chr1:164807543
PBX1R152W, R235WCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Aug 1, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr1:164776781
GRCh38:
Chr1:164807544
PBX1R235Q, R152Qnot providedPathogenic
(Jan 6, 2023)
criteria provided, single submitter
56.
GRCh37:
Chr1:164776835
GRCh38:
Chr1:164807598
PBX1Y170S, Y253SCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Aug 21, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr1:164776837
GRCh38:
Chr1:164807600
PBX1S171P, S254PInborn genetic diseasesLikely pathogenic
(Feb 8, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr1:164776856-164776857
GRCh38:
Chr1:164807619-164807620
PBX1S179fs, S262fsCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayPathogenic
(Apr 26, 2018)
no assertion criteria provided
59.
GRCh37:
Chr1:164776867
GRCh38:
Chr1:164807630
PBX1E181*, E264*not providedPathogenic
(May 5, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr1:164776894
GRCh38:
Chr1:164807657
PBX1C190R, C273RCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Feb 20, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr1:164776895
GRCh38:
Chr1:164807658
PBX1C273Y, C190YCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogenic
(Aug 14, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr1:164776913
GRCh38:
Chr1:164807676
PBX1Q196R, Q279RCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayLikely pathogeniccriteria provided, single submitter
63.
GRCh37:
Chr1:164776928
GRCh38:
Chr1:164807691
PBX1not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:164781212
GRCh38:
Chr1:164811975
PBX1not providedLikely benign
(Feb 20, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:164781226
GRCh38:
Chr1:164811989
PBX1not providedLikely pathogenic
(Nov 6, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr1:164781251
GRCh38:
Chr1:164812014
PBX1R205*, R288*not providedPathogenic
(Aug 14, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr1:164781252
GRCh38:
Chr1:164812015
PBX1R205Q, R288QCongenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Jan 1, 2022)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr1:164781257
GRCh38:
Chr1:164812020
PBX1R207W, R290Wnot providedPathogenic
(Jul 23, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr1:164781280
GRCh38:
Chr1:164812043
PBX1K214N, K297Nnot providedUncertain significance
(Feb 26, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr1:164781391-164781392
GRCh38:
Chr1:164812154-164812155
PBX1not providedBenign
(Aug 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:164781406
GRCh38:
Chr1:164812169
PBX1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr1:164789357
GRCh38:
Chr1:164820120
PBX1S266N, S349NInborn genetic diseasesUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr1:164789382
GRCh38:
Chr1:164820145
PBX1not providedLikely benign
(Mar 20, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:164789435
GRCh38:
Chr1:164820198
PBX1not providedLikely benign
(Jun 16, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr1:164789437
GRCh38:
Chr1:164820200
PBX1not providedLikely benign
(Aug 6, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr1:164789444
GRCh38:
Chr1:164820207
PBX1Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delayBenign
(Sep 5, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr1:164790851
GRCh38:
Chr1:164821614
PBX1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr1:164790883
GRCh38:
Chr1:164821646
PBX1not providedBenign
(Mar 26, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr1:161924068-164761399
not providedLikely pathogenic
(Jun 21, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:164749028-165296253
LMX1A, PBX1not providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr1:162330810-171532331
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr1:160417296-166197042
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr1:130980840-248900000
IGFN1, IGSF8, LEMD1, LENEP, NCF2, NCSTN, NDUFS2, NECTIN4, OR6P1, OR6Y1, OTUD7B, RAB29, SEMA6C, SHC1, SERPINC1, SHISA4, SIPA1L2, SERTAD4, RASAL2, RASSF5, RBBP5, RBM34, RBM8A, RC3H1, RCOR3, RCSD1, RD3, SETDB1, SF3B4, SFT2D2, SH2D1B, SH2D2A, PEX11B, PACC1, PDE4DIP, SHCBP1L, SHE, RAB3GAP2, RAB4A, RABGAP1L, RABIF, RALGPS2, PAPPA2, PAQR6, PARP1, NME7, NENF, NES, NFASC, NLRP3, NMNAT2, NOS1AP, NOTCH2NLA, NPHS2, NEK2, NEK7, NHLH1, NIBAN1, NID1, NIT1, PDZK1, PEA15, LGALS8, LMOD1, LMX1A, LNCATV, LOC101928034, LORICRIN, LPGAT1, LRRC52, LRRN2, LGR6, IL19, IL20, LRRC71, LIX1L, LMNA, PEAR1, IGSF9, IKBKE, IL24, IL6R, ILDR2, ILF2, INAVA, INSRR, INTS3, INTS7, IPO9, IQGAP3, IKBKE-AS1, IL10, GLUL, GNG4, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH4, GPR137B, GPR161, GPR25, GPR37L1, GPR52, GPR89A, GPR89B, GREM2, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, HAPLN2, HAX1, HCN3, HDGF, HEATR1, HHAT, HHIPL2, HJV, HLX, HMCN1, HNRNPU, HORMAD1, HRNR, HSD11B1, HSD17B7, HSPA6, IARS2, IBA57, IER5, IFI16, IRF2BP2, IRF6, ISG20L2, ITGA10, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JMJD4, JTB, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNT2, KCTD3, KDM5B, KHDC4, KIAA0040, KIAA1614, KIF14, KIF21B, KIF26B, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLHDC8A, KLHDC9, KLHL12, KLHL20, KMO, KPLCE, KPRP, KRTCAP2, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LEFTY1, LEFTY2, LELP1, LHX4, LHX9, LIN9, LINC00538, LINC02897, LINGO4, LY9, LYPLAL1, LYSMD1, LYST, MAEL, MAP10, MAP1LC3C, MAP3K21, MAPKAPK2, MARK1, MCL1, MDM4, MEF2D, METTL13, METTL18, METTL25B, MEX3A, MFSD4A, MGST3, MIA3, MINDY1, MIR181A1, MIR181B1, MIR194-1, MIR199A2, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR3120, MIR9-1, MIR9-1HG, MIXL1, MLLT11, MNDA, MPC2, MPZ, MPZL1, MR1, MROH9, MRPL24, MRPL55, MRPL9, MRPS14, MRPS21, MSTO1, MT1HL1, MTARC1, MTARC2, MTMR11, MTR, MTX1, MUC1, MYBPH, MYOC, MYOG, NAV1, NAXE, NBPF10, NBPF11, NBPF12, NBPF15, NBPF8, NBPF9, NPL, NPR1, NR1I3, NR5A2, NSL1, NTMT2, NTPCR, NTRK1, NUAK2, NUCKS1, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODR4, OLFML2B, OPN3, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PDC, PEX19, PFDN2, PFKFB2, PGBD5, PGLYRP3, PGLYRP4, PHLDA3, PI4KB, PIAS3, PIGC, PIGM, PIGR, PIK3C2B, PIP5K1A, PKLR, PKP1, PLA2G4A, PLD5, PLEKHA6, PLEKHO1, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, POGK, POGZ, POLR3C, POLR3GL, POU2F1, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPOX, PPP1R12B, PPP1R15B, PPP2R5A, PRCC, PRDX6, PRELP, PRG4, PRKAB2, PROX1, PRPF3, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PSEN2, PSMB4, PSMD4, PTGS2, PTPN14, PTPN7, PTPRC, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, REN, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBG, RHEX, RHOU, RIIAD1, RIT1, RNASEL, RNF115, RNF187, RNF2, RNPEP, RO60, RORC, RPRD2, RPS27, RPS6KC1, RPTN, RRP15, RUSC1, RUSC1-AS1, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, SCAMP3, SCCPDH, SCNM1, SCYL3, SDCCAG8, SDE2, SDHC, SEC16B, SELE, SELENBP1, SELL, SELP, SEMA4A, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC19A2, SLC25A44, SLC26A9, SLC27A3, SLC30A1, SLC30A10, SLC35F3, SLC39A1, SLC41A1, SLC45A3, SLC50A1, SLC9C2, SMCP, SMG5, SMG7, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNRPE, SNX27, SOAT1, SOX13, SPATA17, SPATA45, SPATA46, SPHAR, SPRR1A, ABCB10, ABL2, ACBD3, ACBD6, ACKR1, ACP6, ACTA1, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADIPOR1, ADORA1, ADSS2, AGT, AHCTF1, AIDA, AIM2, AKT3, ALDH9A1, ANGEL2, ANGPTL1, ANKRD34A, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP30, ARHGEF11, ARHGEF2, ARID4B, ARL8A, ARNT, ARPC5, ARV1, ASCL5, ASH1L, ASPM, ASTN1, ATF3, ATF6, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP6V1G3, ATP8B2, AVPR1B, AXDND1, B3GALNT2, B3GALT2, B4GALT3, BATF3, BCAN, BCL9, BGLAP, BLZF1, BNIPL, BOLA1, BPNT1, BRINP2, BRINP3, BROX, BTG2, BTNL10, C1orf100, C1orf105, C1orf115, C1orf116, C1orf131, C1orf198, C1orf21, C1orf226, C1orf35, C1orf43, C1orf53, C1orf54, C1orf56, C1orf74, C2CD4D, C4BPA, C4BPB, CA14, CACNA1E, CAPN8, CACNA1S, CACYBP, CADM3, CAMK1G, CAMSAP2, CAPN2, CAPN9, CASQ1, CATSPERE, CCDC181, CCDC185, CCDC190, CCSAP, CCT3, CD160, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD247, CD34, CD46, CD48, CD55, CD5L, CD84, CDC42BPA, CDC42SE1, CDC73, CDK18, CELF3, CENPF, CENPL, CEP170, CEP350, CERS2, CFAP126, CFAP141, CFAP45, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHI3L1, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CKS1B, CLK2, CNIH3, CNIH4, CNST, CNTN2, COA6, COG2, COLGALT2, COP1, COPA, COQ8A, COX20, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CRP, CRTC2, CSRP1, CTSE, CTSK, CTSS, CYB5R1, DAP3, DARS2, DCAF6, DCAF8, DCAF8-DT, DCST1, DCST2, DDR2, DDX59, DEDD, DEGS1, DENND1B, DENND4B, DESI2, DHX9, DISC1, DISC2, DISP1, DNAH14, DNM3, DNM3OS, DPM3, DPT, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DYRK3, ECM1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2D, ELF3, ELK4, ENAH, ENSA, ENTREP3, EPHX1, EPRS1, ERO1B, ESRRG, ETNK2, ETV3, ETV3L, EXO1, EXOC8, F11R, F13B, F5, FALEC, FAM163A, FAM177B, FAM20B, FAM72A, FAM72C, FAM72D, FAM78B, FAM89A, FASLG, FBXO28, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FH, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, G0S2, GABPB2, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GCSAML, GGPS1, GJA5, GJA8, GJC2, GLMP, GLRX2, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPTA1, SRGAP2, SRGAP2B, SRP9, SSR2, STUM, STX6, STYXL2, SUCO, SUSD4, SV2A, SWT1, SYT11, SYT14, SYT2, TADA1, TAF1A, TAF5L, TAGLN2, TARBP1, TARS2, TATDN3, TBCE, TBX19, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEX35, TFB2M, TGFB2, THBS3, THEM4, THEM5, TIMM17A, TIPRL, TLR5, TMCC2, TMCO1, TMEM183A, TMEM63A, TMEM79, TMEM81, TMEM9, TMOD4, TNFAIP8L2, TNFSF18, TNFSF4, TNN, TNNI1, TNNT2, TNR, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TPM3, TPR, TRAF3IP3, TRAF5, TRH-GTG2-1, TRIM11, TRIM17, TRIM46, TRIM58, TRIM67, TRMT1L, TRN-GTT2-7, TSACC, TSEN15, TSNAX, TSTD1, TTC13, TTC24, TUFT1, TXNIP, UAP1, UBAP2L, UBE2Q1, UBE2T, UBQLN4, UCHL5, UCK2, UFC1, UHMK1, URB2, USF1, USH2A, USP21, UTP25, VAMP4, VANGL2, VASH2, VHLL, VN1R5, VPS45, VPS72, VSIG8, WDR26, WDR64, WNT3A, WNT9A, XCL1, XCL2, XPR1, YOD1, YY1AP1, ZBED6, ZBTB18, ZBTB37, ZBTB41, ZBTB7B, ZC3H11A, ZNF124, ZNF281, ZNF496, ZNF648, ZNF669, ZNF670, ZNF678, ZNF687, ZNF695, ZP4
Gastrointestinal stromal tumor, Paragangliomas 3, Parathyroid carcinoma
Uncertain significance
(Feb 14, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr1:164608682-169216098
not providedLikely pathogenic
(Jan 24, 2020)
no assertion criteria provided
85.
GRCh37:
Chr1:163093021-168991239
not providedPathogenic
(Apr 13, 2017)
no assertion criteria provided
86.
GRCh37:
Chr1:157321299-167391423
not providedPathogenic
(May 2, 2017)
no assertion criteria provided
87.
GRCh37:
Chr1:164690187-164835917
PBX1not providedUncertain significance
(Jan 24, 2018)
no assertion criteria provided
88.
GRCh37:
Chr1:160369890-175796325
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr1:159815642-177026983
not providedPathogenic
(Nov 19, 2010)
no assertion criteria provided
90.
GRCh37:
Chr1:82154-249218992
SMIM1, SSX2IP, ST3GAL3, TDRD5, TNFRSF14, TNFRSF18, TTC4, TTF2, WDR3, WDR47, WDR64, ZNF678, ZNF683, ZNF684, ZNF687, ZNF691, ZSCAN20, ZSWIM5, ZYG11A, ZNF695, ZRANB2-DT, ZNF692, WNT3A, ZNF697, ZNHIT6, ZP4, ZRANB2, WDR77, WNT4, TXLNA, TXNDC12, TXNIP, TYW3, UAP1, UBAP2L, UBE2J2, UBE2Q1, UBE2T, XPR1, WNT9A, WRAP73, XCL1, XCL2, XKR8, WDTC1, TNFRSF1B, TNNI1, TNNI3K, TOR1AIP2, TNN, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TNFSF18, TNFSF4, WLS, WNT2B, TTLL10, TTLL7, UBE2U, UBE4B, TUFT1, TUT4, TDRKH, TEDDM1, TESK2, TGFBR3, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, THAP3, TEX35, TEX38, TEX46, TFAP2E, TFB2M, TGFB2, TEKT2, TENT5B, SMIM12, SMPDL3B, SMYD2, SNORD21, SNRNP40, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, TENT5C, TENT5C-DT, ST6GALNAC3, STX12, STX6, STXBP3, SH2D1B, SHISA4, SHISAL2A, SIKE1, SHC1, SHCBP1L, SHE, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, ST6GALNAC5, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC16A1, SLC16A4, SLC19A2, SLC1A7, SLC22A15, SLC25A24, SLC25A33, SLC25A34, SLC25A44, SLC26A9, SLC27A3, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA1, SPATA17, SPATA21, SPATA45, SPATA46, SPATA6, SPEN, SPHAR, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRARP, SRGAP2, SRGAP2B, SRGAP2C, SRM, SRP9, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSR2, SSU72, STYXL2, SUCO, SUSD4, SV2A, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SYT11, SYT14, SYT2, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TAF5L, TAFA3, TAGLN2, TAL1, TARBP1, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TBCE, TBX15, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, THBS3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TIMM17A, TINAGL1, TIPRL, TLCD4, TLR5, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM53, TMEM54, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM9, TMOD4, TNFAIP8L2, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TOR3A, TP53BP2, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRAF5, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRH-GTG2-1, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRMT1L, TRN-GTT2-7, TRNAU1AP, TRNP1, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, TSPAN1, TSPAN2, TSSK3, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, UBIAD1, UBL4B, UBQLN4, UBR4, UBXN10, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, USF1, USH2A, USP1, USP21, USP24, USP33, USP48, UTP11, UTP25, UTS2, VAMP3, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, YARS1, YBX1, YIPF1, YOD1, YRDC, YTHDF2, YY1AP1, ZBED6, ZBTB17, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZNF670, ZNF672, ZYG11B, ZZZ3, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, ADSS2, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGRN, AGT, AGTRAP, AHCTF1, AHCYL1, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AK4, AK5, AKIRIN1, AKNAD1, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, ATXN7L2, AUNIP, AURKAIP1, AVPR1B, AXDND1, AZIN2, B3GALNT2, B3GALT2, B3GALT6, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf100, C1orf105, C1orf115, C1orf116, C1orf122, C1orf127, C1orf131, C1orf141, C1orf146, C1orf159, C1orf162, C1orf167, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC181, CCDC185, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HHLA3, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LEXM, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853, LINC01649, LINC01783, LINC02897, LINGO4, LIX1L, LMNA, LMO4, LMOD1, LMX1A, LNCATV, LOC101927434, LOC101928034, LORICRIN, LPAR3, LPGAT1, LRIF1, LRIG2, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC47, LRRC52, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LSM10, LURAP1, LUZP1, LY9, LYPD8, LYPLA2, LYPLAL1, LYSMD1, LYST, LZIC, MAB21L3, MACF1, MACO1, MAD2L2, MAEL, MAGI3, MAGOH, MAN1A2, MAN1C1, MANEAL, MAP10, MAP1LC3C, MAP3K21, MAP3K6, MAP7D1, MAPKAPK2, MARCKSL1, MARK1, MASP2, MAST2, MATN1, MCL1, MCOLN2, MCOLN3, MDM4, MDS2, MEAF6, MECR, MED18, MED8, MEF2D, MEGF6, METTL13, METTL18, METTL25B, MEX3A, MFAP2, MFN2, MFSD14A, MFSD2A, MFSD4A, MGST3, MIA3, MIB2, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MINDY1, MIR101-1, MIR137, MIR181A1, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR30C1, MIR3120, MIR34A, MIR429, MIR551A, MIR9-1, MIR9-1HG, MIXL1, MKNK1, MLLT11, MMACHC, MMEL1, MMP23B, MNDA, MOB3C, MORN1, MOV10, MPC2, MPL, MPZ, MPZL1, MR1, MROH7, MROH9, MRPL20, MRPL24, MRPL37, MRPL55, MRPL9, MRPS14, MRPS15, MRPS21, MRTO4, MSH4, MSTO1, MT1HL1, MTARC1, MTARC2, MTF1, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MUTYH, MXRA8, MYBPH, MYBPHL, MYCBP, MYCL, MYOC, MYOG, MYOM3, MYSM1, NADK, NASP, NAV1, NAXE, NBL1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF15, NBPF3, NBPF4, NBPF6, NBPF8, NBPF9, NCDN, NCF2, NCMAP, NCSTN, NDC1, NDUFS2, NDUFS5, NECAP2, NECTIN4, NEGR1, NEGR1-IT1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NHLH1, NHLH2, NIBAN1, NID1, NIPAL3, NIT1, NKAIN1, NLRP3, NME7, NMNAT1, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NLA, NPHP4, NPHS2, NPL, NPPA, NPPB, NPR1, NR0B2, NR1I3, NR5A2, NRAS, NRDC, NSL1, NSUN4, NT5C1A, NTMT2, NTNG1, NTPCR, NTRK1, NUAK2, NUCKS1, NUDC, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODF2L, ODR4, OLFM3, OLFML2B, OLFML3, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR4F16, OR4F29, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSBPL9, OSCP1, OTUD3, OTUD7B, OVGP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PACC1, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARK7, PARP1, PARS2, PATJ, PAX7, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PCSK9, PDC, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1, PDZK1IP1, PEA15, PEAR1, PEF1, PER3,