| - 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 cases | Pathogenic (Jul 16, 2013) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:162009840-167449900
- GRCh38:
- Chr1:162040050-167480663
| ALDH9A1, C1orf226, CCDC190, CD247, DDR2, FAM78B, FAM78B-AS1, GPA33, HSD17B7, ILDR2, LINC01363, LINC01675, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC108251792, LOC108281190, LOC110120762, LOC110121004, LOC110121019, LOC110121021, LOC110121025, LOC110121037, LOC110121063, LOC112577508, LOC112577509, LOC113939980, LOC121725062, LOC122128461, LOC122128462, LOC122128463, LOC122128464, LOC122128465, LOC122128466, LOC122128467, LOC122128468, LOC122128469, LOC122128470, LOC126805895, LOC126805896, LOC126805897, LOC126805898, LOC126805899, LOC126805900, LOC126805901, LOC126805902, LOC126805903, LOC126805904, LOC127814295, LRRC52, LRRC52-AS1, MAEL, MGST3, MIR3658, MIR4654, MIR556, MIR921, NOS1AP, NUF2, PBX1, PBX1-AS1, POGK, POU2F1, RGS4, RGS5, RGS5-AS1, RXRG, SH2D1B, SPATA46, STYXL2, TADA1, TMCO1, TMCO1-AS1, UAP1, UCK2, UHMK1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Mar 19, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:164516783-165658640
- GRCh38:
- Chr1:164547546-165689403
| ALDH9A1, LMX1A, LMX1A-AS1, LMX1A-AS2, LOC108251792, LOC110121004, LOC110121021, LOC110121025, LOC110121037, LOC112577509, LOC122128464, LOC122128465, LOC126805898, LOC126805899, LRRC52, LRRC52-AS1, MGST3, PBX1, PBX1-AS1, RXRG | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529091
- GRCh38:
- Chr1:164559854
| PBX1 | H11R | not provided | Uncertain significance (Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529111
- GRCh38:
- Chr1:164559874
| PBX1 | G18* | See cases | Pathogenic (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529120
- GRCh38:
- Chr1:164559883
| PBX1 | G21S | not provided | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:164529126
- GRCh38:
- Chr1:164559889
| PBX1 | S23fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Oct 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529137
- GRCh38:
- Chr1:164559900
| PBX1 | | not provided | Benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529151
- GRCh38:
- Chr1:164559914
| PBX1 | G31V | not provided | Likely benign (Sep 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529196
- GRCh38:
- Chr1:164559959
| PBX1 | L47fs | not provided | Pathogenic (Jun 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529204
- GRCh38:
- Chr1:164559967
| PBX1 | Q49* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Jul 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164529246
- GRCh38:
- Chr1:164560009
| PBX1 | A63S, R4S | not provided | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164532475
- GRCh38:
- Chr1:164563238
| PBX1 | | Inborn genetic diseases | Likely benign (Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164532547-164532550
- GRCh38:
- Chr1:164563310-164563313
| PBX1 | | not provided | Likely pathogenic (Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164532549
- GRCh38:
- Chr1:164563312
| PBX1 | | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Jun 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761715-164761716
- GRCh38:
- Chr1:164792478-164792479
| PBX1 | | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, not provided | Benign (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:164761742
- GRCh38:
- Chr1:164792505
| PBX1 | R10*, R93* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761782-164761783
- GRCh38:
- Chr1:164792545-164792546
| PBX1 | R107fs, R24fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761785
- GRCh38:
- Chr1:164792548
| PBX1 | R107Q, R24Q | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761785
- GRCh38:
- Chr1:164792548
| PBX1 | R107P, R24P | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (May 13, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr1:164761796
- GRCh38:
- Chr1:164792559
| PBX1 | M111V, M28V | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761834-164761835
- GRCh38:
- Chr1:164792597-164792598
| PBX1 | G42fs, G125fs | not provided | Pathogenic (Mar 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761841-164761842
- GRCh38:
- Chr1:164792604-164792605
| PBX1 | | not provided | Uncertain significance (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761857
- GRCh38:
- Chr1:164792620
| PBX1 | A131fs, A48fs | not provided | Pathogenic (Feb 27, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761858-164761859
- GRCh38:
- Chr1:164792621-164792622
| PBX1 | | not provided | Uncertain significance (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761877-164761883
- GRCh38:
- Chr1:164792640-164792646
| PBX1 | G138fs, G55fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Dec 12, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761887
- GRCh38:
- Chr1:164792650
| PBX1 | S141*, S58* | not provided | Pathogenic (Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164761892
- GRCh38:
- Chr1:164792655
| PBX1 | N143fs, N60fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Aug 25, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:164761968
- GRCh38:
- Chr1:164792731
| PBX1 | Y168F, Y85F | not provided | Uncertain significance (May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164768926
- GRCh38:
- Chr1:164799689
| PBX1 | | not provided | Likely benign (Oct 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164768934
- GRCh38:
- Chr1:164799697
| PBX1 | | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Aug 25, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:164768967
- GRCh38:
- Chr1:164799730
| PBX1 | N181S, N98S | not provided | Uncertain significance (Apr 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164768970
- GRCh38:
- Chr1:164799733
| PBX1 | L182P, L99P | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164768975
- GRCh38:
- Chr1:164799738
| PBX1 | R184*, R101* | Autism spectrum disorder | Pathogenic (Aug 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769007
- GRCh38:
- Chr1:164799770
| PBX1 | | not provided | Likely benign (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769030-164769041
- GRCh38:
- Chr1:164799793-164799804
| PBX1 | | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769040
- GRCh38:
- Chr1:164799803
| PBX1 | R123fs, R206fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | not provided | no assertion provided |
| - GRCh37:
- Chr1:164769042-164769043
- GRCh38:
- Chr1:164799805-164799806
| PBX1 | K124fs, K207fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Apr 17, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:164769052
- GRCh38:
- Chr1:164799815
| PBX1 | S126R, S209R | not provided | Uncertain significance (Jan 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769055-164769056
- GRCh38:
- Chr1:164799818-164799819
| PBX1 | I128fs, I211fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Nov 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769059
- GRCh38:
- Chr1:164799822
| PBX1 | Q129*, Q212* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Dec 10, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:164769071
- GRCh38:
- Chr1:164799834
| PBX1 | K133*, K216* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769086
- GRCh38:
- Chr1:164799849
| PBX1 | E221*, E138* | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Jun 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769105
- GRCh38:
- Chr1:164799868
| PBX1 | R227P, R144P | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Apr 26, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:164769110
- GRCh38:
- Chr1:164799873
| PBX1 | R146*, R229* | Inborn genetic diseases | Pathogenic (Sep 15, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769125
- GRCh38:
- Chr1:164799888
| PBX1 | R151W, R234W | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Conflicting interpretations of pathogenicity (Feb 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:164769126
- GRCh38:
- Chr1:164799889
| PBX1 | R234Q, R151Q | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Jan 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769126
- GRCh38:
- Chr1:164799889
| PBX1 | R234P, R151P | PBX1-related intellectual disability and pleiotropic developmental defects | Likely pathogenic (Feb 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164769139
- GRCh38:
- Chr1:164799902
| PBX1 | | not provided, Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Benign (Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:164776780
- GRCh38:
- Chr1:164807543
| PBX1 | R152W, R235W | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Aug 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776781
- GRCh38:
- Chr1:164807544
| PBX1 | R235Q, R152Q | not provided | Pathogenic (Jan 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776835
- GRCh38:
- Chr1:164807598
| PBX1 | Y170S, Y253S | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Aug 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776837
- GRCh38:
- Chr1:164807600
| PBX1 | S171P, S254P | Inborn genetic diseases | Likely pathogenic (Feb 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776856-164776857
- GRCh38:
- Chr1:164807619-164807620
| PBX1 | S179fs, S262fs | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Pathogenic (Apr 26, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:164776867
- GRCh38:
- Chr1:164807630
| PBX1 | E181*, E264* | not provided | Pathogenic (May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776894
- GRCh38:
- Chr1:164807657
| PBX1 | C190R, C273R | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Feb 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776895
- GRCh38:
- Chr1:164807658
| PBX1 | C273Y, C190Y | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic (Aug 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776913
- GRCh38:
- Chr1:164807676
| PBX1 | Q196R, Q279R | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr1:164776928
- GRCh38:
- Chr1:164807691
| PBX1 | | not provided | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781212
- GRCh38:
- Chr1:164811975
| PBX1 | | not provided | Likely benign (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781226
- GRCh38:
- Chr1:164811989
| PBX1 | | not provided | Likely pathogenic (Nov 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781251
- GRCh38:
- Chr1:164812014
| PBX1 | R205*, R288* | not provided | Pathogenic (Aug 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781252
- GRCh38:
- Chr1:164812015
| PBX1 | R205Q, R288Q | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Jan 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:164781257
- GRCh38:
- Chr1:164812020
| PBX1 | R207W, R290W | not provided | Pathogenic (Jul 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781280
- GRCh38:
- Chr1:164812043
| PBX1 | K214N, K297N | not provided | Uncertain significance (Feb 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781391-164781392
- GRCh38:
- Chr1:164812154-164812155
| PBX1 | | not provided | Benign (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164781406
- GRCh38:
- Chr1:164812169
| PBX1 | | not provided | Likely benign (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164789357
- GRCh38:
- Chr1:164820120
| PBX1 | S266N, S349N | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164789382
- GRCh38:
- Chr1:164820145
| PBX1 | | not provided | Likely benign (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164789435
- GRCh38:
- Chr1:164820198
| PBX1 | | not provided | Likely benign (Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164789437
- GRCh38:
- Chr1:164820200
| PBX1 | | not provided | Likely benign (Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164789444
- GRCh38:
- Chr1:164820207
| PBX1 | | Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay | Benign (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164790851
- GRCh38:
- Chr1:164821614
| PBX1 | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164790883
- GRCh38:
- Chr1:164821646
| PBX1 | | not provided | Benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:161924068-164761399
| ATF6, C1orf226, CCDC190, DDR2, HSD17B7, NOS1AP, NUF2, OLFML2B, PBX1, RGS4, RGS5, SH2D1B, SPATA46, UAP1, UHMK1 | | not provided | Likely pathogenic (Jun 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:164749028-165296253
| LMX1A, PBX1 | | not provided | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:162330810-171532331
| ADCY10, ALDH9A1, ATP1B1, BLZF1, C1orf112, C1orf226, CCDC181, CCDC190, CD247, CREG1, DCAF6, DDR2, DPT, F5, FAM78B, FMO1, FMO2, FMO3, FMO4, GORAB, GPA33, GPR161, HSD17B7, ILDR2, KIFAP3, LMX1A, LRRC52, MAEL, METTL18, MGST3, MPC2, MPZL1, MROH9, NME7, NOS1AP, NTMT2, NUF2, PBX1, POGK, POU2F1, PRRC2C, PRRX1, RCSD1, RGS4, RGS5, RXRG, SCYL3, SELE, SELL, SELP, SFT2D2, SH2D1B, SLC19A2, SPATA46, STYXL2, TADA1, TBX19, TIPRL, TMCO1, UAP1, UCK2, UHMK1, XCL1, XCL2 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:160417296-166197042
| ADAMTS4, ALDH9A1, APOA2, ARHGAP30, ATF6, B4GALT3, C1orf226, CCDC190, CD244, CD48, CD84, CFAP126, DDR2, DEDD, DUSP12, F11R, FAM78B, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, HSD17B7, HSPA6, ITLN1, ITLN2, KLHDC9, LMX1A, LRRC52, LY9, MGST3, MPZ, NDUFS2, NECTIN4, NIT1, NOS1AP, NR1I3, NUF2, OLFML2B, PBX1, PCP4L1, PFDN2, PPOX, RGS4, RGS5, RXRG, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SPATA46, TMCO1, TOMM40L, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - 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 |
| - GRCh37:
- Chr1:164608682-169216098
| STYXL2, GPR161, LMX1A, MPZL1, RXRG, PBX1, TBX19, TIPRL, POGK, CREG1, UCK2, GPA33, XCL1, MGST3, POU2F1, TADA1, DPT, MAEL, DCAF6, XCL2, ADCY10, NME7, SFT2D2, MPC2, ILDR2, CD247, ATP1B1, TMCO1, FAM78B, RCSD1, LRRC52, ALDH9A1 | | not provided | Likely pathogenic (Jan 24, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr1:163093021-168991239
| ADCY10, ALDH9A1, CD247, CREG1, DCAF6, DPT, FAM78B, GPA33, GPR161, ILDR2, LMX1A, LRRC52, MAEL, MGST3, MPC2, MPZL1, NUF2, PBX1, POGK, POU2F1, RCSD1, RGS5, RXRG, SFT2D2, STYXL2, TADA1, TBX19, TIPRL, TMCO1, UCK2, XCL1, XCL2 | | not provided | Pathogenic (Apr 13, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:157321299-167391423
| ACKR1, ADAMTS4, AIM2, ALDH9A1, APCS, APOA2, ARHGAP30, ATF6, ATP1A2, ATP1A4, B4GALT3, C1orf226, CADM3, CASQ1, CCDC190, CD1A, CD1B, CD1C, CD1D, CD1E, CD244, CD48, CD5L, CD84, CFAP126, CFAP45, COPA, CRP, DCAF8, DCAF8-DT, DDR2, DEDD, DUSP12, DUSP23, F11R, FAM78B, FCER1A, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, GPA33, HSD17B7, HSPA6, IFI16, IGSF8, IGSF9, ILDR2, ITLN1, ITLN2, KCNJ10, KCNJ9, KIRREL1, KIRREL1-IT1, KLHDC9, LMX1A, LRRC52, LY9, MAEL, MGST3, MNDA, MPZ, NCSTN, NDUFS2, NECTIN4, NHLH1, NIT1, NOS1AP, NR1I3, NUF2, OLFML2B, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, PBX1, PCP4L1, PEA15, PEX19, PFDN2, PIGM, POGK, POU2F1, PPOX, PYHIN1, RGS4, RGS5, RXRG, SDHC, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SNHG28, SPATA46, SPTA1, STYXL2, TADA1, TAGLN2, TMCO1, TOMM40L, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VANGL2, VSIG8 | | not provided | Pathogenic (May 2, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:164690187-164835917
| PBX1 | | not provided | Uncertain significance (Jan 24, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:160369890-175796325
| ADAMTS4, ADCY10, ALDH9A1, ANKRD45, APOA2, ARHGAP30, ATF6, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf226, CACYBP, CCDC181, CCDC190, CD244, CD247, CD48, CD84, CENPL, CFAP126, CREG1, DARS2, DCAF6, DDR2, DEDD, DNM3, DNM3OS, DPT, DUSP12, F11R, F5, FAM78B, FASLG, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GORAB, GPA33, GPR161, GPR52, HSD17B7, HSPA6, ILDR2, ITLN1, ITLN2, KIAA0040, KIFAP3, KLHDC9, KLHL20, LMX1A, LRRC52, LY9, MAEL, METTL13, METTL18, MGST3, MIR199A2, MIR214, MIR3120, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, NDUFS2, NECTIN4, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, PBX1, PCP4L1, PFDN2, PIGC, POGK, POU2F1, PPOX, PRDX6, PRRC2C, PRRX1, RABGAP1L, RC3H1, RCSD1, RGS4, RGS5, RXRG, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLC19A2, SLC9C2, SPATA46, STYXL2, SUCO, TADA1, TBX19, TIPRL, TMCO1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, XCL1, XCL2, ZBTB37 | | not provided | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:159815642-177026983
| COP1, DCAF8-DT, DDR2, DEDD, COPA, CREG1, DNM3OS, DNM3, DPT, DUSP12, DARS2, DCAF6, DCAF8, ADAMTS4, ADCY10, ALDH9A1, ANKRD45, APOA2, ARHGAP30, ASTN1, ATF6, ATP1A2, ATP1A4, ATP1B1, B4GALT3, BLZF1, C1orf105, C1orf226, CACYBP, CASQ1, CCDC181, CCDC190, CD244, CD247, CD48, CD84, CENPL, CFAP126, CFAP45, F11R, F5, FAM78B, FASLG, FCER1G, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCRLA, FCRLB, FIRRM, FMO1, FMO2, FMO3, FMO4, GAS5, GORAB, GPA33, GPR161, GPR52, HSD17B7, HSPA6, IGSF8, IGSF9, ILDR2, ITLN1, ITLN2, KCNJ10, KCNJ9, KIAA0040, KIFAP3, KLHDC9, KLHL20, LMX1A, LRRC52, LY9, MAEL, METTL13, METTL18, MGST3, MIR199A2, MIR214, MIR3120, MPC2, MPZ, MPZL1, MROH9, MRPS14, MYOC, NCSTN, NDUFS2, NECTIN4, NHLH1, NIT1, NME7, NOS1AP, NR1I3, NTMT2, NUF2, OLFML2B, PAPPA2, PBX1, PCP4L1, PEA15, PEX19, PFDN2, PIGC, PIGM, POGK, POU2F1, PPOX, PRDX6, PRRC2C, PRRX1, RABGAP1L, RC3H1, RCSD1, RGS4, RGS5, RXRG, SCYL3, SDHC, SELE, SELL, SELP, SERPINC1, SFT2D2, SH2D1B, SLAMF1, SLAMF6, SLAMF7, SLAMF9, SLC19A2, SLC9C2, SNHG28, SPATA46, STYXL2, SUCO, TADA1, TAGLN2, TBX19, TIPRL, TMCO1, TNFSF18, TNFSF4, TNN, TNR, TOMM40L, TSTD1, UAP1, UCK2, UFC1, UHMK1, USF1, USP21, VAMP4, VANGL2, VSIG8, XCL1, XCL2, ZBTB37 | | not provided | Pathogenic (Nov 19, 2010) | no assertion criteria provided |
| - 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, |