| - GRCh37:
- Chr5:149094155-180699152
- GRCh38:
- Chr5:149714592-181272151
| ADAM19, ADAMTS2, ADRA1B, ANXA6, ARL10, ARSI, ATOX1, ATOX1-AS1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLMAT3, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CTC-338M12.4, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GMCL2, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMGXB3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01470, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01861, LINC01932, LINC01933, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100288254, LOC100289470, LOC129995240, LOC129995241, LOC129995242, LOC129995243, LOC129995244, LOC129995245, LOC129995246, LOC129995247, LOC129995248, LOC129995249, LOC129995250, LOC129995251, LOC129995252, LOC129995253, LOC129995254, LOC129995255, LOC129995256, LOC129995257, LOC129995258, LOC129995259, LOC129995260, LOC129995261, LOC129995262, LOC129995263, LOC129995264, LOC129995265, LOC129995266, LOC129995267, LOC129995268, LOC129995269, LOC129995270, LOC129995271, LOC129995272, LOC129995273, LOC129995274, LOC129995275, LOC129995276, LOC129995277, LOC129995278, LOC129995279, LOC129995280, LOC129995281, LOC129995282, LOC129995283, LOC129995284, LOC129995285, LOC129995286, LOC129995287, LOC129995288, LOC129995289, LOC129995290, LOC129995291, LOC129995292, LOC129995293, LOC129995294, LOC129995295, LOC129995296, LOC129995297, LOC129995298, LOC129995299, LOC129995300, LOC129995301, LOC129995302, LOC129995303, LOC129995304, LOC129995305, LOC129995306, LOC129995307, LOC129995308, LOC129995309, LOC129995310, LOC129995311, LOC129995312, LOC129995313, LOC129995314, LOC129995315, LOC129995316, LOC129995317, LOC129995318, LOC129995319, LOC129995320, LOC129995321, LOC129995322, LOC129995323, LOC129995324, LOC129995325, LOC129995326, LOC129995327, LOC129995328, LOC129995329, LOC129995330, LOC129995331, LOC129995332, LOC129995333, LOC129995334, LOC129995335, LOC129995336, LOC129995337, LOC129995338, LOC129995339, LOC129995340, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, LOC129995379, LOC129995380, LOC129995381, LOC129995382, LOC129995383, LOC129995384, LOC129995385, LOC129995386, LOC129995387, LOC129995388, LOC129995389, LOC129995390, LOC129995391, LOC129995392, LOC129995393, LOC129995394, LOC129995395, LOC129995396, LOC129995397, LOC129995398, LOC129995399, LOC129995400, LOC129995401, LOC129995402, LOC129995403, LOC129995404, LOC129995405, LOC129995406, LOC129995407, LOC129995408, LOC129995409, LOC129995410, LOC129995411, LOC129995412, LOC129995413, LOC129995414, LOC129995415, LOC129995416, LOC129995417, LOC129995418, LOC129995419, LOC129995420, LOC129995421, LOC129995422, LOC129995423, LOC129995424, LOC129995425, LOC129995426, LOC129995427, LOC129995428, LOC129995429, LOC129995430, LOC129995431, LOC129995432, LOC129995433, LOC129995434, LOC129995435, LOC129995436, LOC129995437, LOC129995438, LOC129995439, LOC129995440, LOC129995441, LOC129995442, LOC129995443, LOC129995444, LOC129995445, LOC129995446, LOC129995447, LOC129995448, LOC129995449, LOC129995450, LOC129995451, LOC129995452, LOC129995453, LOC129995454, LOC129995455, LOC129995456, LOC129995457, LOC129995458, LOC129995459, LOC129995460, LOC129995461, LOC129995462, LOC129995463, LOC129995464, LOC129995465, LOC129995466, LOC129995467, LOC129995468, LOC129995469, LOC129995470, LOC129995471, LOC129995472, LOC129995473, LOC129995474, LOC129995475, LOC129995476, LOC129995477, LOC129995478, LOC129995479, LOC129995480, LOC129995481, LOC129995482, LOC129995483, LOC129995484, LOC129995485, LOC129995486, LOC129995487, LOC129995488, LOC129995489, LOC129995490, LOC129995491, LOC129995492, LOC129995493, LOC129995494, LOC129995495, LOC129995496, LOC129995497, LOC129995498, LOC129995499, LOC129995500, LOC129995501, LOC129995502, LOC129995503, LOC129995504, LOC129995505, LOC129995506, LOC129995507, LOC129995508, LOC129995509, LOC129995510, LOC129995511, LOC129995512, LOC129995513, LOC129995514, LOC129995515, LOC129995516, LOC132089189, LOC132089190, LOC132089191, LOC132089192, LOC132089193, LOC132089194, LOC132089195, LOC132089196, LOC132089197, LOC132089198, LOC132089199, LOC132089200, LOC132089201, LOC132089202, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132089224, LOC132089225, LOC132089226, LOC132089227, LOC132089228, LOC132089230, LOC132090739, LOC132090740, LOC132090741, LOC132090742, LOC132090743, LOC132090744, LOC132090745, LOC132090746, LOC132090747, LOC132090748, LOC132205961, LOC132205962, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR1294, MIR1303, MIR146A, MIR218-2, MIR3141, MIR3142, MIR3142HG, MIR340, MIR378A, MIR378E, MIR378H, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR6499, MIR8056, MIR8089, MRNIP, MRNIP-DT, MRPL22, MSANTD5, MSX2, MXD3, MYOZ3, MYOZ3-AS1, N4BP3, NDST1, NDST1-AS1, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RPS14, RUFY1, RUFY1-AS1, SAP30L, SAP30L-AS1, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SMIM3, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIGD6, TIMD4, TLX3, TMED9, TNIP1, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF454-DT, ZNF879, LOC100502572, LOC100652758, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC102724551, LOC105377730, LOC105377753, LOC105377763, LOC105378230, LOC105980006, LOC105980008, LOC108004526, LOC108228201, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111188152, LOC111188153, LOC111188154, LOC111188156, LOC111429606, LOC111500319, LOC111556140, LOC111828524, LOC112997568, LOC112997569, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158526, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099710, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740630, LOC121740631, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575590, LOC123575592, LOC123575593, LOC123575594, LOC123575595, LOC123575596, LOC123575597, LOC123575598, LOC123575599, LOC123575600, LOC123575601, LOC123575602, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807551, LOC126807552, LOC126807553, LOC126807554, LOC126807555, LOC126807556, LOC126807557, LOC126807558, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC128772274, LOC128966623, LOC129389395, LOC129389396, LOC129389397, LOC129389398, LOC129389399, LOC129389400, LOC129389401, LOC129389402, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129389412, LOC129389413, LOC129389414, LOC129389415, LOC129389416, LOC129389417, LOC129389418, LOC129389419, LOC129389420, LOC129389421, LOC129389422, LOC129994966, LOC129994967, LOC129994968, LOC129994969, LOC129994970, LOC129994971, LOC129994972, LOC129994973, LOC129994974, LOC129994975, LOC129994976, LOC129994977, LOC129994978, LOC129994979, LOC129994980, LOC129994981, LOC129994982, LOC129994983, LOC129994984, LOC129994985, LOC129994986, LOC129994987, LOC129994988, LOC129994989, LOC129994990, LOC129994991, LOC129994992, LOC129994993, LOC129994994, LOC129994995, LOC129994996, LOC129994997, LOC129994998, LOC129994999, LOC129995000, LOC129995001, LOC129995002, LOC129995003, LOC129995004, LOC129995005, LOC129995006, LOC129995007, LOC129995008, LOC129995009, LOC129995010, LOC129995011, LOC129995012, LOC129995013, LOC129995014, LOC129995015, LOC129995016, LOC129995017, LOC129995018, LOC129995019, LOC129995020, LOC129995021, LOC129995022, LOC129995023, LOC129995024, LOC129995025, LOC129995026, LOC129995027, LOC129995028, LOC129995029, LOC129995030, LOC129995031, LOC129995032, LOC129995033, LOC129995034, LOC129995035, LOC129995036, LOC129995037, LOC129995038, LOC129995039, LOC129995040, LOC129995041, LOC129995042, LOC129995043, LOC129995044, LOC129995045, LOC129995046, LOC129995047, LOC129995048, LOC129995049, LOC129995050, LOC129995051, LOC129995052, LOC129995053, LOC129995054, LOC129995055, LOC129995056, LOC129995057, LOC129995058, LOC129995059, LOC129995060, LOC129995061, LOC129995062, LOC129995063, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC129995101, LOC129995102, LOC129995103, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC129995205, LOC129995206, LOC129995207, LOC129995208, LOC129995209, LOC129995210, LOC129995211, LOC129995212, LOC129995213, LOC129995214, LOC129995215, LOC129995216, LOC129995217, LOC129995218, LOC129995219, LOC129995220, LOC129995221, LOC129995222, LOC129995223, LOC129995224, LOC129995225, LOC129995226, LOC129995227, LOC129995228, LOC129995229, LOC129995230, LOC129995231, LOC129995232, LOC129995233, LOC129995234, LOC129995235, LOC129995236, LOC129995237, LOC129995238, LOC129995239 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:151823430-165531397
- GRCh38:
- Chr5:152443869-166104392
| LOC129995100, LOC129995101, LOC129995102, LOC129995103, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC132089203, LOC132089204, LOC132089205, LOC132089206, LOC132089207, LOC132089208, LOC132089209, LOC132089210, LOC132089211, LOC132089212, LOC132089213, LOC132089214, LOC132089215, LOC132089216, LOC132089217, LOC132089218, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132090745, LOC132090746, LOC132090747, LOC132205961, LOC132205962, LOC285626, LSM11, MAT2B, MED7, MFAP3, MIR1294, MIR1303, MIR146A, MIR3141, MIR3142, MIR3142HG, MIR378H, MRPL22, NIPAL4, NIPAL4-DT, NUDCD2, PPP1R2B, PTTG1, PWWP2A, RNF145, SAP30L, SAP30L-AS1, SGCD, SLU7, SOX30, THG1L, TIMD4, TTC1, UBLCP1, ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, CCNG1, CCNJL, CLINT1, CNOT8, CYFIP2, EBF1, FABP6, FABP6-AS1, FAM114A2, FAM200C, FAXDC2, FNDC9, GABRA1, GABRA6, GABRB2, GABRG2, GALNT10, GARIN3, GEMIN5, GRIA1, HAND1, HAVCR1, HAVCR2, HMMR, HMMR-AS1, IL12B, ITK, KIF4B, LARP1, LINC01202, LINC01470, LINC01845, LINC01847, LINC01861, LINC01932, LINC01938, LINC02143, LINC02159, LINC02202, LINC02227, LINC03000, LOC102546299, LOC108228201, LOC110120620, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC116158526, LOC121099711, LOC121099712, LOC121740631, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC129389402, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129995063, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099 | | See cases | Pathogenic (Apr 2, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:152140747-166675058
- GRCh38:
- Chr5:152761187-167248053
| LINC02159, LINC02202, LINC02227, LINC03000, LOC101927908, LOC102546299, LOC108228201, LOC110120620, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC112997570, LOC112997571, LOC112997572, LOC112997574, LOC116158526, LOC121099711, LOC121099712, LOC121740631, LOC123575603, LOC123575604, LOC123575605, LOC123575606, LOC123575607, LOC123575608, LOC126807559, LOC126807560, LOC126807561, LOC126807562, LOC126807563, LOC126807564, LOC126807565, LOC126807566, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC129389402, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129995064, LOC129995065, LOC129995066, LOC129995067, LOC129995068, LOC129995069, LOC129995070, LOC129995071, LOC129995072, LOC129995073, LOC129995074, LOC129995075, LOC129995076, LOC129995077, LOC129995078, LOC129995079, LOC129995080, LOC129995081, LOC129995082, LOC129995083, LOC129995084, LOC129995085, LOC129995086, LOC129995087, LOC129995088, LOC129995089, LOC129995090, LOC129995091, LOC129995092, LOC129995093, LOC129995094, LOC129995095, LOC129995096, LOC129995097, LOC129995098, LOC129995099, LOC129995100, LOC129995101, LOC129995102, LOC129995103, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC132089219, LOC132089220, LOC132089221, LOC132089222, LOC132089223, LOC132089224, LOC132090746, LOC132090747, LOC285626, LSM11, MAT2B, MED7, MFAP3, MIR1294, MIR1303, MIR146A, MIR3141, MIR3142, MIR3142HG, MIR378H, MRPL22, NIPAL4, NIPAL4-DT, NUDCD2, PPP1R2B, PTTG1, PWWP2A, RNF145, SAP30L, SAP30L-AS1, SGCD, SLU7, SOX30, TENM2, THG1L, TIMD4, TTC1, UBLCP1, ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, CCNG1, CCNJL, CLINT1, CNOT8, CYFIP2, EBF1, FABP6, FABP6-AS1, FAM114A2, FAM200C, FAXDC2, FNDC9, GABRA1, GABRA6, GABRB2, GABRG2, GALNT10, GARIN3, GEMIN5, GRIA1, HAND1, HAVCR1, HAVCR2, HMMR, HMMR-AS1, IL12B, ITK, KIF4B, LARP1, LINC01202, LINC01470, LINC01845, LINC01847, LINC01861, LINC01932, LINC01938, LINC01947, LINC02143 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156252523-180696806
- GRCh38:
- Chr5:156825512-181269805
| LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC129995205, LOC129995206, LOC129995207, LOC129995208, LOC129995209, LOC129995210, LOC129995211, LOC129995212, LOC129995213, LOC129995214, LOC129995215, LOC129995216, LOC129995217, LOC129995218, LOC129995219, LOC129995220, LOC129995221, LOC129995222, LOC129995223, LOC129995224, LOC129995225, LOC129995226, LOC129995227, LOC129995228, LOC129995229, LOC129995230, LOC129995231, LOC129995232, LOC129995233, LOC129995234, LOC129995235, LOC129995236, LOC129995237, LOC129995238, LOC129995239, LOC129995240, LOC129995241, LOC129995242, LOC129995243, LOC129995244, LOC129995245, LOC129995246, LOC129995247, LOC129995248, LOC129995249, LOC129995250, LOC129995251, LOC129995252, LOC129995253, LOC129995254, LOC129995255, LOC129995256, LOC129995257, LOC129995258, LOC129995259, LOC129995260, LOC129995261, LOC129995262, LOC129995263, LOC129995264, LOC129995265, LOC129995266, LOC129995267, LOC129995268, LOC129995269, LOC129995270, LOC129995271, LOC129995272, LOC129995273, LOC129995274, LOC129995275, LOC129995276, LOC129995277, LOC129995278, LOC129995279, LOC129995280, LOC129995281, LOC129995282, LOC129995283, LOC129995284, LOC129995285, LOC129995286, LOC129995287, LOC129995288, LOC129995289, LOC129995290, LOC129995291, LOC129995292, LOC129995293, LOC129995294, LOC129995295, LOC129995296, LOC129995297, LOC129995298, LOC129995299, LOC129995300, LOC129995301, LOC129995302, LOC129995303, LOC129995304, LOC129995305, LOC129995306, LOC129995307, LOC129995308, LOC129995309, LOC129995310, LOC129995311, LOC129995312, LOC129995313, LOC129995314, LOC129995315, LOC129995316, LOC129995317, LOC129995318, LOC129995319, LOC129995320, LOC129995321, LOC129995322, LOC129995323, LOC129995324, LOC129995325, LOC129995326, LOC129995327, LOC129995328, LOC129995329, LOC129995330, LOC129995331, LOC129995332, LOC129995333, LOC129995334, LOC129995335, LOC129995336, LOC129995337, LOC129995338, LOC129995339, LOC129995340, LOC129995341, LOC129995342, LOC129995343, LOC129995344, LOC129995345, LOC129995346, LOC129995347, LOC129995348, LOC129995349, LOC129995350, LOC129995351, LOC129995352, LOC129995353, LOC129995354, LOC129995355, LOC129995356, LOC129995357, LOC129995358, LOC129995359, LOC129995360, LOC129995361, LOC129995362, LOC129995363, LOC129995364, LOC129995365, LOC129995366, LOC129995367, LOC129995368, LOC129995369, LOC129995370, LOC129995371, LOC129995372, LOC129995373, LOC129995374, LOC129995375, LOC129995376, LOC129995377, LOC129995378, LOC129995379, LOC129995380, LOC129995381, LOC129995382, LOC129995383, LOC129995384, LOC129995385, LOC129995386, LOC129995387, LOC129995388, LOC129995389, LOC129995390, LOC129995391, LOC129995392, LOC129995393, LOC129995394, LOC129995395, LOC129995396, LOC129995397, LOC129995398, LOC129995399, LOC129995400, LOC129995401, LOC129995402, LOC129995403, LOC129995404, LOC129995405, LOC129995406, LOC129995407, LOC129995408, LOC129995409, LOC129995410, LOC129995411, LOC129995412, LOC129995413, LOC129995414, LOC129995415, LOC129995416, LOC129995417, LOC129995418, LOC129995419, LOC129995420, LOC129995421, LOC129995422, LOC129995423, LOC129995424, LOC129995425, LOC129995426, LOC129995427, LOC129995428, LOC129995429, LOC129995430, LOC129995431, LOC129995432, LOC129995433, LOC129995434, LOC129995435, LOC129995436, LOC129995437, LOC129995438, LOC129995439, LOC129995440, LOC129995441, LOC129995442, LOC129995443, LOC129995444, LOC129995445, LOC129995446, LOC129995447, LOC129995448, LOC129995449, LOC129995450, LOC129995451, LOC129995452, LOC129995453, LOC129995454, LOC129995455, LOC129995456, LOC129995457, LOC129995458, LOC129995459, LOC129995460, LOC129995461, LOC129995462, LOC129995463, LOC129995464, LOC129995465, LOC129995466, LOC129995467, LOC129995468, LOC129995469, LOC129995470, LOC129995471, LOC129995472, LOC129995473, LOC129995474, LOC129995475, LOC129995476, LOC129995477, LOC129995478, LOC129995479, LOC129995480, LOC129995481, LOC129995482, LOC129995483, LOC129995484, LOC129995485, LOC129995486, LOC129995487, LOC129995488, LOC129995489, LOC129995490, LOC129995491, LOC129995492, LOC129995493, LOC129995494, LOC129995495, LOC129995496, LOC129995497, LOC129995498, LOC129995499, LOC129995500, LOC129995501, LOC129995502, LOC129995503, LOC129995504, LOC129995505, LOC129995506, LOC129995507, LOC129995508, LOC129995509, LOC129995510, LOC129995511, LOC129995512, LOC129995513, LOC129995514, LOC129995515, LOC129995516, LOC132089224, LOC132089225, LOC132089226, LOC132089227, LOC132089228, LOC132089230, LOC132090748, LOC285626, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MGAT1, MGAT4B, MIR103A1, MIR103B1, MIR10523, MIR12118, MIR12125, MIR1229, MIR1271, MIR146A, MIR218-2, MIR3142, MIR3142HG, MIR340, MIR378E, MIR3912, MIR4281, MIR4634, MIR4638, MIR5003, MIR585, MIR8056, MIR8089, MRNIP, MRNIP-DT, MSANTD5, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NIPAL4, NIPAL4-DT, NKX2-5, NOP16, NPM1, NSD1, NSG2, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDLIM7, PFN3, PHYKPL, PPP1R2B, PRELID1, PROP1, PRR7, PRR7-AS1, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPL26L1-AS1, RUFY1, RUFY1-AS1, SCGB3A1, SFXN1, SH3PXD2B, SIMC1, SLC34A1, SLIT3, SLIT3-AS1, SLIT3-AS2, SLU7, SMIM23, SNCB, SNORA70J, SNORA74B, SNORD95, SNORD96A, SOX30, SPDL1, SQSTM1, STC2, STK10, TBC1D9B, TENM2, TENM2-AS1, THG1L, THOC3, THOC3-AS1, TIMD4, TLX3, TMED9, TRA-TGC3-1, TRIM41, TRIM52, TRIM52-AS1, TRIM7, TRIM7-AS2, TRK-CTT2-2, TRK-CTT2-3, TRL-AAG1-1, TRL-AAG1-2, TRL-AAG1-3, TRL-AAG2-1, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-2, TRV-AAC1-3, TRV-AAC1-4, TRV-AAC2-1, TRV-CAC1-2, TRV-CAC1-3, TRV-CAC1-4, TRV-CAC1-5, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF454-DT, ZNF879, ADAM19, ADAMTS2, ADRA1B, ARL10, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CANX, CBY3, CCNG1, CCNJL, CDHR2, CLINT1, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, CTC-338M12.4, CYFIP2, DBN1, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FABP6-AS1, FAF2, FAM153A, FAM153B, FAM193B, FAM200C, FBLL1, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GARIN3, GFPT2, GMCL2, GPRIN1, GRK6, GRM6, HAVCR1, HAVCR2, HEIH, HIGD2A, HK3, HMMR, HMMR-AS1, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, ITK, KCNIP1, KCNIP1-AS1, KCNIP1-OT1, KCNMB1, KIAA1191, LCP2, LINC00847, LINC01187, LINC01202, LINC01366, LINC01411, LINC01484, LINC01485, LINC01574, LINC01845, LINC01847, LINC01932, LINC01938, LINC01942, LINC01944, LINC01947, LINC01951, LINC01962, LINC02143, LINC02159, LINC02202, LINC02222, LINC02227, LINC02995, LINC03000, LMAN2, LOC100128059, LOC100128340, LOC100288254, LOC100289470, LOC100502572, LOC100996385, LOC101927908, LOC101928093, LOC102546299, LOC102724551, LOC105377730, LOC105377753, LOC105377763, LOC105980006, LOC105980008, LOC108004526, LOC109279841, LOC110120620, LOC110120643, LOC110120714, LOC110120747, LOC110120777, LOC110120965, LOC110120995, LOC110120998, LOC110121000, LOC110121027, LOC110121041, LOC110121211, LOC110121241, LOC110121272, LOC110121284, LOC111500319, LOC111556140, LOC112997571, LOC112997572, LOC112997574, LOC112997575, LOC112997576, LOC112997577, LOC112997578, LOC112997579, LOC112997580, LOC112997581, LOC112997582, LOC112997583, LOC112997584, LOC114004391, LOC116158527, LOC116158528, LOC116158530, LOC116158531, LOC116158532, LOC116158533, LOC116158534, LOC116158535, LOC116158536, LOC121099711, LOC121099712, LOC121099713, LOC121099714, LOC121099715, LOC121099716, LOC121099717, LOC121099718, LOC121740632, LOC121740633, LOC121740634, LOC121740635, LOC123575606, LOC123575607, LOC123575608, LOC123575609, LOC123575610, LOC123575611, LOC123575612, LOC123575614, LOC123575615, LOC123575616, LOC123575617, LOC123575618, LOC123575619, LOC123575620, LOC123575621, LOC123575622, LOC123575623, LOC123575624, LOC123575625, LOC123575626, LOC123575627, LOC123575628, LOC123575629, LOC123575630, LOC123575631, LOC123575632, LOC123575633, LOC123575634, LOC123575635, LOC123575636, LOC123575637, LOC123575638, LOC123575639, LOC123575640, LOC123575641, LOC126807567, LOC126807568, LOC126807569, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC126807577, LOC126807578, LOC126807579, LOC126807580, LOC126807581, LOC126807582, LOC126807583, LOC126807584, LOC126807585, LOC126807586, LOC126807587, LOC126807588, LOC126807589, LOC126807590, LOC126807591, LOC126807592, LOC126807593, LOC126807594, LOC126807595, LOC126807596, LOC126807597, LOC126807598, LOC126807599, LOC126807600, LOC126807601, LOC126807602, LOC126807603, LOC126807604, LOC126807605, LOC126807606, LOC126807607, LOC126807608, LOC126807609, LOC126807610, LOC126807611, LOC126807612, LOC126807613, LOC126807614, LOC126807615, LOC126807616, LOC126807617, LOC126807618, LOC126807619, LOC126807620, LOC126807621, LOC126807622, LOC126807623, LOC126807624, LOC126807625, LOC126807626, LOC126807627, LOC126807628, LOC126807629, LOC126807630, LOC126807631, LOC126807632, LOC126807633, LOC128966623, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129389412, LOC129389413, LOC129389414, LOC129389415, LOC129389416, LOC129389417, LOC129389418, LOC129389419, LOC129389420, LOC129389421, LOC129389422, LOC129995104, LOC129995105, LOC129995106, LOC129995107, LOC129995108, LOC129995109, LOC129995110, LOC129995111, LOC129995112, LOC129995113, LOC129995114, LOC129995115, LOC129995116, LOC129995117, LOC129995118, LOC129995119, LOC129995120, LOC129995121, LOC129995122, LOC129995123, LOC129995124, LOC129995125, LOC129995126, LOC129995127, LOC129995128, LOC129995129, LOC129995130, LOC129995131, LOC129995132, LOC129995133, LOC129995134, LOC129995135, LOC129995136, LOC129995137, LOC129995138, LOC129995139, LOC129995140, LOC129995141, LOC129995142, LOC129995143, LOC129995144, LOC129995145, LOC129995146, LOC129995147, LOC129995148, LOC129995149, LOC129995150, LOC129995151, LOC129995152, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187 | | See cases | Pathogenic (Dec 30, 2009) | no assertion criteria provided |
| - GRCh38:
- Chr5:158887731-164722046
| ADRA1B, ATP10B, C1QTNF2, CCNG1, CCNJL, EBF1, FABP6, FABP6-AS1, FAM200C, GABRA1, GABRA6, GABRB2, GABRG2, HMMR, HMMR-AS1, IL12B, LINC01202, LINC01845, LINC01847, LINC01932, LINC02143, LINC02159, LINC02202, LINC03000, LOC102546299, LOC110120620, LOC110120965, LOC110120995, LOC110120998, LOC112997574, LOC121099712, LOC123575608, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC285626, MAT2B, MIR146A, MIR3142, MIR3142HG, NUDCD2, PTTG1, PWWP2A, RNF145, SLU7, TTC1, UBLCP1 | | not specified | Uncertain significance (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:158368362-163813766
- GRCh38:
- Chr5:158941354-164386760
| ADRA1B, ATP10B, C1QTNF2, CCNG1, CCNJL, EBF1, FABP6, FABP6-AS1, FAM200C, GABRA1, GABRA6, GABRB2, GABRG2, HMMR, HMMR-AS1, IL12B, LINC01202, LINC01845, LINC01847, LINC01932, LINC02159, LINC02202, LINC03000, LOC110120965, LOC110120995, LOC110120998, LOC112997574, LOC121099712, LOC123575608, LOC126807570, LOC126807571, LOC126807572, LOC126807573, LOC126807574, LOC126807575, LOC126807576, LOC129389403, LOC129389404, LOC129389405, LOC129389406, LOC129389407, LOC129389408, LOC129389409, LOC129389410, LOC129389411, LOC129995153, LOC129995154, LOC129995155, LOC129995156, LOC129995157, LOC129995158, LOC129995159, LOC129995160, LOC129995161, LOC129995162, LOC129995163, LOC129995164, LOC129995165, LOC129995166, LOC129995167, LOC129995168, LOC129995169, LOC129995170, LOC129995171, LOC129995172, LOC129995173, LOC129995174, LOC129995175, LOC129995176, LOC129995177, LOC129995178, LOC129995179, LOC129995180, LOC129995181, LOC129995182, LOC129995183, LOC129995184, LOC129995185, LOC129995186, LOC129995187, LOC129995188, LOC129995189, LOC129995190, LOC129995191, LOC129995192, LOC129995193, LOC129995194, LOC129995195, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, LOC285626, MAT2B, MIR146A, MIR3142, MIR3142HG, NUDCD2, PTTG1, PWWP2A, RNF145, SLU7, TTC1, UBLCP1 | | See cases | Pathogenic (Jun 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:161336961-163513923
- GRCh38:
- Chr5:161909955-164086917
| CCNG1, GABRG2, HMMR, HMMR-AS1, LINC01202, LOC123575608, LOC129389408, LOC129389409, LOC129995196, LOC129995197, LOC129995198, LOC129995199, LOC129995200, LOC129995201, LOC129995202, LOC129995203, LOC129995204, MAT2B, NUDCD2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162890901
- GRCh38:
- Chr5:163463895
| HMMR | L29S | Inborn genetic diseases | Likely benign (Mar 2, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162890955
- GRCh38:
- Chr5:163463949
| HMMR | Q47L | Inborn genetic diseases | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162891750
- GRCh38:
- Chr5:163464744
| HMMR | V56D | Ovarian cancer | Benign (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162894729
- GRCh38:
- Chr5:163467723
| HMMR | K83T, K82T | Inborn genetic diseases | Uncertain significance (Apr 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162896669
- GRCh38:
- Chr5:163469663
| HMMR | R12H, R83H, R98H, R99H | Inborn genetic diseases | Uncertain significance (Feb 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162896779
- GRCh38:
- Chr5:163469773
| HMMR | T120A, T136A, T49A, T135A | Inborn genetic diseases | Uncertain significance (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162896825
- GRCh38:
- Chr5:163469819
| HMMR | L135P, L150P, L151P, L64P | Ovarian cancer | Likely pathogenic (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162898394
- GRCh38:
- Chr5:163471388
| HMMR | M105T, M192T, M176T, M191T | Inborn genetic diseases | Uncertain significance (Feb 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162898432
- GRCh38:
- Chr5:163471426
| HMMR | E118K, E189K, E204K, E205K | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162898439
- GRCh38:
- Chr5:163471433
| HMMR | Q206R, Q120R, Q191R, Q207R | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162900428
- GRCh38:
- Chr5:163473422
| HMMR | Q170*, Q241*, Q256*, Q257* | Familial cancer of breast | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162900564
- GRCh38:
- Chr5:163473558
| HMMR | | Familial cancer of breast | Uncertain significance (Mar 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162901069
- GRCh38:
- Chr5:163474063
| HMMR | H217R, H303R, H288R, H304R | Inborn genetic diseases | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162901155
- GRCh38:
- Chr5:163474149
| HMMR | R317C, R246C, R332C, R333C | Inborn genetic diseases | Likely benign (Mar 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162902474
- GRCh38:
- Chr5:163475468
| HMMR | S268L, S354L, S355L, S339L | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162902514
- GRCh38:
- Chr5:163475508
| HMMR | M281I, M352I, M367I, M368I | Inborn genetic diseases | Uncertain significance (Nov 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162902538
- GRCh38:
- Chr5:163475532
| HMMR | E289D, E360D, E375D, E376D | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr5:162905756
- GRCh38:
- Chr5:163478750
| HMMR | K445N, K358N, K429N, K444N | Inborn genetic diseases | Uncertain significance (Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162905781
- GRCh38:
- Chr5:163478775
| HMMR | E454K, E367K, E438K, E453K | Familial cancer of breast | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr5:162909657
- GRCh38:
- Chr5:163482651
| HMMR, HMMR-AS1 | | not provided | Likely benign (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162909710
- GRCh38:
- Chr5:163482704
| HMMR-AS1, HMMR | E467G, E482G, E483G, E396G | Inborn genetic diseases | Uncertain significance (Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162909715
- GRCh38:
- Chr5:163482709
| HMMR-AS1, HMMR | A398T, A469T, A485T, A484T | Inborn genetic diseases | Uncertain significance (Dec 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162910136
- GRCh38:
- Chr5:163483130
| HMMR, HMMR-AS1 | Q547R, Q532R, Q461R, Q548R | not provided | Benign (Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162910139
- GRCh38:
- Chr5:163483133
| HMMR, HMMR-AS1 | E462V, E533V, E549V, E548V | Inborn genetic diseases | Uncertain significance (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162910165
- GRCh38:
- Chr5:163483159
| HMMR, HMMR-AS1 | D471H, D557H, D542H, D558H | not provided | Benign (Apr 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162910278
- GRCh38:
- Chr5:163483272
| HMMR, HMMR-AS1 | A477T, A548T, A563T, A564T | Ovarian cancer | Benign (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162910319
- GRCh38:
- Chr5:163483313
| HMMR-AS1, HMMR | I561M, I577M, I490M, I576M | Inborn genetic diseases | Likely benign (Nov 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162910330
- GRCh38:
- Chr5:163483324
| HMMR, HMMR-AS1 | R494H, R565H, R580H, R581H | Inborn genetic diseases | Uncertain significance (Feb 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162911129
- GRCh38:
- Chr5:163484123
| HMMR-AS1, HMMR | A527T, A614T, A598T, A613T | Inborn genetic diseases | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162911140
- GRCh38:
- Chr5:163484134
| HMMR-AS1, HMMR | E601D, E617D, E530D, E616D | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162911217
- GRCh38:
- Chr5:163484211
| HMMR, HMMR-AS1 | V556A, V627A, V642A, V643A | Breast cancer, susceptibility to | Uncertain significance (Dec 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162911228
- GRCh38:
- Chr5:163484222
| HMMR, HMMR-AS1 | D560N, D631N, D646N, D647N | Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162911258
- GRCh38:
- Chr5:163484252
| HMMR-AS1, HMMR | | Familial cancer of breast | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162917399
- GRCh38:
- Chr5:163490393
| HMMR, HMMR-AS1 | V569L, V655L, V656L, V640L | Inborn genetic diseases | Uncertain significance (Jun 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162917447
- GRCh38:
- Chr5:163490441
| HMMR, HMMR-AS1 | K671E, K585E, K656E, K672E | Inborn genetic diseases | Uncertain significance (Jan 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162917469
- GRCh38:
- Chr5:163490463
| HMMR, HMMR-AS1 | K663T, K678T, K679T, K592T | Inborn genetic diseases | Uncertain significance (Jun 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162917492
- GRCh38:
- Chr5:163490486
| HMMR, HMMR-AS1 | D600Y, D671Y, D686Y, D687Y | Ovarian cancer | Likely pathogenic (Jan 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162917504
- GRCh38:
- Chr5:163490498
| HMMR, HMMR-AS1 | A691P, A690P, A604P, A675P | Inborn genetic diseases | Uncertain significance (Nov 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr5:162917529
- GRCh38:
- Chr5:163490523
| HMMR, HMMR-AS1 | N698S, N612S, N699S, N683S | Inborn genetic diseases | Uncertain significance (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156786013-162945369
| ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, CCNG1, CCNJL, CLINT1, CYFIP2, EBF1, FABP6, FAM200C, GABRA1, GABRA6, GABRB2, GABRG2, HMMR, IL12B, LSM11, MAT2B, MIR146A, NIPAL4, NUDCD2, PTTG1, PWWP2A, RNF145, SLU7, SOX30, THG1L, TTC1, UBLCP1 | | not provided | Likely pathogenic (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:150535183-172906793
| ADAM19, ADRA1B, ANXA6, ATOX1, ATP10B, ATP6V0E1, BNIP1, C1QTNF2, C5orf52, C5orf58, CCDC69, CCNG1, CCNJL, CLINT1, CNOT8, CREBRF, CYFIP2, DOCK2, DUSP1, EBF1, EFCAB9, ERGIC1, FABP6, FAM114A2, FAM200C, FAT2, FAXDC2, FBXW11, FGF18, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GLRA1, GM2A, GRIA1, HAND1, HAVCR1, HAVCR2, HMMR, IL12B, INSYN2B, ITK, KCNIP1, KCNMB1, KIF4B, LARP1, LCP2, LOC100128059, LOC100288254, LSM11, MAT2B, MED7, MFAP3, MIR103A1, MIR146A, MRPL22, NEURL1B, NIPAL4, NKX2-5, NMUR2, NPM1, NUDCD2, PANK3, PTTG1, PWWP2A, RANBP17, RARS1, RNF145, RPL26L1, SAP30L, SGCD, SH3PXD2B, SLC36A1, SLC36A2, SLC36A3, SLIT3, SLU7, SMIM23, SNORA74B, SOX30, SPARC, SPDL1, STC2, STK10, TENM2, THG1L, TIMD4, TLX3, TTC1, UBLCP1, UBTD2, WWC1 | | not provided | Pathogenic (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr5:149010383-180719789
| ADAM19, ADAMTS2, ADRA1B, ANXA6, ARHGEF37, ARL10, ARSI, ATOX1, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CAMK2A, CANX, CBY3, CCDC69, CCNG1, CCNJL, CD74, CDHR2, CDX1, CLINT1, CLK4, CLTB, CNOT6, CNOT8, COL23A1, CPEB4, CPLX2, CREBRF, CSF1R, CYFIP2, DBN1, DCTN4, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FAF2, FAM114A2, FAM153A, FAM153B, FAM193B, FAM200C, FAT2, FAXDC2, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GARIN3, GEMIN5, GFPT2, GLRA1, GM2A, GPRIN1, GPX3, GRIA1, GRK6, GRM6, HAND1, HAVCR1, HAVCR2, HIGD2A, HK3, HMGXB3, HMMR, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, IRGM, ITK, KCNIP1, KCNMB1, KIAA1191, KIF4B, LARP1, LCP2, LMAN2, LOC100128059, LOC100288254, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MFAP3, MGAT1, MGAT4B, MIR103A1, MIR146A, MIR378A, MRNIP, MRPL22, MSX2, MXD3, MYOZ3, N4BP3, NDST1, NEURL1B, NHP2, NIPAL4, NKX2-5, NMUR2, NOP16, NPM1, NSD1, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDE6A, PDGFRB, PDLIM7, PFN3, PHYKPL, PPARGC1B, PRELID1, PROP1, PRR7, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RBM22, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RPS14, RUFY1, SAP30L, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC26A2, SLC34A1, SLC36A1, SLC36A2, SLC36A3, SLC6A7, SLIT3, SLU7, SMIM23, SMIM3, SNCB, SNORA74B, SOX30, SPARC, SPDL1, SQSTM1, STC2, STK10, SYNPO, TBC1D9B, TCOF1, TENM2, THG1L, THOC3, TIGD6, TIMD4, TLX3, TMED9, TNIP1, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | Hunter-McAlpine craniosynostosis | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr5:161880996-162958461
| CCNG1, HMMR, MAT2B, NUDCD2 | | See cases | Uncertain significance (Mar 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr5:156347980-169959880
| ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf52, C5orf58, CCNG1, CCNJL, CLINT1, CYFIP2, DOCK2, EBF1, FABP6, FAM200C, FNDC9, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GARIN3, HAVCR1, HAVCR2, HMMR, IL12B, INSYN2B, ITK, KCNIP1, KCNMB1, LCP2, LOC100128059, LSM11, MAT2B, MED7, MIR103A1, MIR146A, NIPAL4, NUDCD2, PANK3, PTTG1, PWWP2A, RARS1, RNF145, SLIT3, SLU7, SOX30, SPDL1, TENM2, THG1L, TIMD4, TTC1, UBLCP1, WWC1 | | not provided | Pathogenic (Jul 24, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr5:162636748-163072415
| CCNG1, HMMR, MAT2B, NUDCD2 | | not provided | Uncertain significance (Dec 21, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:156597181-171166353
| C5orf52, ADAM19, ADRA1B, ATP10B, C1QTNF2, C5orf58, CCNG1, CCNJL, CLINT1, CYFIP2, DOCK2, EBF1, FABP6, FAM200C, FGF18, FNDC9, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, HMMR, IL12B, INSYN2B, ITK, KCNIP1, KCNMB1, LCP2, LOC100128059, LSM11, MAT2B, MIR103A1, MIR146A, NIPAL4, NPM1, NUDCD2, PANK3, PTTG1, PWWP2A, RANBP17, RARS1, RNF145, SLIT3, SLU7, SOX30, SPDL1, TENM2, THG1L, TLX3, TTC1, UBLCP1, WWC1 | | not provided | Pathogenic (Sep 20, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:162866179-162917708
| HMMR, NUDCD2, CCNG1 | | not provided | Benign (Feb 26, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr5:162851132-162956290
| HMMR, NUDCD2, MAT2B, CCNG1 | | not provided | Benign (Nov 8, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:162851132-162956242
| MAT2B, CCNG1, HMMR, NUDCD2 | | not provided | Benign (May 8, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:162851132-162950527
| NUDCD2, CCNG1, MAT2B, HMMR | | not provided | Benign (Mar 12, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr5:155344802-180693344
| ADAM19, ADAMTS2, ADRA1B, ARL10, ATP10B, ATP6V0E1, B4GALT7, BNIP1, BOD1, BTNL3, BTNL8, BTNL9, C1QTNF2, C5orf47, C5orf52, C5orf58, C5orf60, CANX, CBY3, CCNG1, CCNJL, CDHR2, CLINT1, CLK4, CLTB, CNOT6, COL23A1, CPEB4, CPLX2, CREBRF, CYFIP2, DBN1, DDX41, DOCK2, DOK3, DRD1, DUSP1, EBF1, EFCAB9, EIF4E1B, ERGIC1, F12, FABP6, FAF2, FAM153A, FAM153B, FAM193B, FAM200C, FBXW11, FGF18, FGFR4, FLT4, FNDC9, FOXI1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GARIN3, GFPT2, GPRIN1, GRK6, GRM6, HAVCR1, HAVCR2, HIGD2A, HK3, HMMR, HNRNPAB, HNRNPH1, HRH2, IL12B, INSYN2B, ITK, KCNIP1, KCNMB1, KIAA1191, LCP2, LMAN2, LOC100128059, LOC100288254, LSM11, LTC4S, MAML1, MAPK9, MAT2B, MED7, MGAT1, MGAT4B, MIR103A1, MIR146A, MRNIP, MSX2, MXD3, N4BP3, NEURL1B, NHP2, NIPAL4, NKX2-5, NOP16, NPM1, NSD1, NUDCD2, OR2V1, OR2V2, OR2Y1, PANK3, PDLIM7, PFN3, PHYKPL, PRELID1, PROP1, PRR7, PTTG1, PWWP2A, RAB24, RACK1, RANBP17, RARS1, RASGEF1C, RGS14, RMND5B, RNF130, RNF145, RNF44, RPL26L1, RUFY1, SCGB3A1, SFXN1, SGCD, SH3PXD2B, SIMC1, SLC34A1, SLIT3, SLU7, SMIM23, SNCB, SNORA74B, SOX30, SPDL1, SQSTM1, STC2, STK10, TBC1D9B, TENM2, THG1L, THOC3, TIMD4, TLX3, TMED9, TRIM41, TRIM52, TRIM7, TRK-CTT2-3, TRP-TGG3-1, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSPAN17, TTC1, UBLCP1, UBTD2, UIMC1, UNC5A, WWC1, ZFP2, ZFP62, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF454, ZNF879 | | not provided | Pathogenic (Oct 30, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr5:25328-180693344
| OTP, OTULIN, OTULIN-DT, OTULINL, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PANK3, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDCD6, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLEKHG4B, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PRELID2, PRKAA1, PRLR, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTCD2, PTGER4, PTTG1, PURA, PWWP2A, RAB24, RAB3C, RACK1, RAD1, RAD17, RAD50, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS1, RASA1, RASGEF1C, RASGRF2, RBM22, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS14, RGS7BP, RHOBTB3, RICTOR, RIMOC1, RIOK2, RMND5B, RNF130, RNF14, RNF145, RNF180, RNF44, ROPN1L, RPL26L1, RPL37, RPS14, RPS23, RUFY1, RXFP3, S100Z, SAP30L, SAR1B, SCAMP1, SCARNA18, SCGB3A1, SCGB3A2, SDHA, SEC24A, SELENOP, SEMA5A, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SFXN1, SGCD, SGTB, SH3PXD2B, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SIMC1, SKIC3, SKP1, SKP2, SLC12A2, SLC12A7, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLF1, SLIT3, SLU7, SMAD5, SMIM15, SMIM23, SMIM3, SMN1, SMN2, SNCAIP, SNCB, SNHG4, SNORA74B, SNX18, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24, SPATA9, SPDL1, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STC2, STING1, STK10, STK32A, SUB1, SV2C, SYNPO, TAF7, TAF9, TARS1, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TENT2, TENT4A, TERT, TGFBI, THBS4, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNIP1, TNPO1, TPPP, TRAPPC13, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TTC23L, TTC33, TXNDC15, UBE2B, UBE2D2, UBE2QL1, UBLCP1, UBTD2, UGT3A1, UGT3A2, UIMC1, UNC5A, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, WWC1, XRCC4, YIPF5, YTHDC2, ZBED3, ZCCHC10, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZNF622, ZNF879, ZSWIM6, ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADAMTS6, ADCY2, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARB2A, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, ATPSCKMT, B4GALT7, BASP1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRD9, BRIX1, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf47, C5orf52, C5orf58, C5orf60, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CBY3, CCDC112, CCDC125, CCDC127, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CEP72, CERT1, CETN3, CFAP90, CHD1, CHSY3, CKMT2, CLINT1, CLK4, CLPTM1L, CLTB, CMBL, CMYA5, CNOT6, CNOT8, COL23A1, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNND2, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DAP, DBN1, DCANP1, DCP2, DCTN4, DDX4, DDX41, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, EXOC3, EXOC3-AS1, F12, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM169A, FAM170A, FAM174A, FAM193B, FAM200C, FAM53C, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GARIN3, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, ICE1, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX2-DT, IRX4, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KGD4, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC01194, LINC02899, LIX1, LMAN2, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LPCAT1, LRRC14B, LRRC70, LRRTM2, LSM11, LTC4S, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAML1, MAN2A1, MAP1B, MAP3K1, MAPK9, MARCHF11, MARCHF3, MARCHF6, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED10, MED7, MEF2C, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MRNIP, MROH2B, MRPL22, MRPL36, MRPS27, MRPS30, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTRR, MTX3, MXD3, MYO10, MYOT, MYOZ3, MZB1, N4BP3, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NEUROG1, NHP2, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, NPM1, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NSD1, NSUN2, NUDCD2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OSMR | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr5:13648-180905029
| ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS16, ADAMTS19, ADAMTS2, ADAMTS6, ADCY2, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, AHRR, ALDH7A1, AMACR, ANKDD1B, ANKH, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD33B, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARB2A, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, ATPSCKMT, B4GALT7, BASP1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRD9, BRIX1, BTF3, BTNL3, BTNL8, BTNL9, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf47, C5orf52, C5orf58, C5orf60, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CANX, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CBY3, CCDC112, CCDC125, CCDC127, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CCT5, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CEP72, CERT1, CETN3, CFAP90, CHD1, CHSY3, CKMT2, CLINT1, CLK4, CLPTM1L, CLTB, CMBL, CMYA5, CNOT6, CNOT8, COL23A1, COMMD10, COX7C, CPEB4, CPLANE1, CPLX2, CREBRF, CRHBP, CSF1R, CSF2, CSNK1A1, CSNK1G3, CTNNA1, CTNND2, CTXN3, CWC27, CXCL14, CXXC5, CYFIP2, CYSTM1, DAB2, DAP, DBN1, DCANP1, DCP2, DCTN4, DDX4, DDX41, DDX46, DELE1, DEPDC1B, DHFR, DHX29, DIAPH1, DIMT1, DMGDH, DMXL1, DNAH5, DNAJC18, DNAJC21, DND1, DOCK2, DOK3, DPYSL3, DRD1, DROSHA, DTWD2, DUSP1, EBF1, ECSCR, EDIL3, EFCAB9, EFNA5, EGFLAM, EGFLAM-AS2, EGFLAM-AS4, EGR1, EIF4E1B, EIF4EBP3, ELL2, ELOVL7, EMB, ENC1, EPB41L4A, ERAP1, ERAP2, ERBIN, ERCC8, ERGIC1, ESM1, ETF1, EXOC3, EXOC3-AS1, F12, F2R, F2RL1, F2RL2, FABP6, FAF2, FAM114A2, FAM13B, FAM151B, FAM153A, FAM153B, FAM169A, FAM170A, FAM174A, FAM193B, FAM200C, FAM53C, FAM81B, FASTKD3, FAT2, FAXDC2, FBN2, FBXL17, FBXL7, FBXO38, FBXO4, FBXW11, FCHO2, FCHSD1, FEM1C, FER, FGF1, FGF10, FGF18, FGFR4, FLT4, FNDC9, FNIP1, FOXD1, FOXI1, FST, FSTL4, FTMT, FYB1, G3BP1, GABRA1, GABRA6, GABRB2, GABRG2, GABRP, GALNT10, GAPT, GARIN3, GCNT4, GDF9, GDNF, GDNF-AS1, GEMIN5, GFM2, GFPT2, GFRA3, GHR, GIN1, GLRA1, GLRX, GM2A, GNPDA1, GOLPH3, GPBP1, GPR150, GPR151, GPRIN1, GPX3, GPX8, GRAMD2B, GRIA1, GRK6, GRM6, GRPEL2, GRXCR2, GTF2H2, GTF2H2C, GZMA, GZMK, HAND1, HAPLN1, HARS1, HARS2, HAVCR1, HAVCR2, HBEGF, HCN1, HDAC3, HEXB, HIGD2A, HINT1, HK3, HMGCR, HMGCS1, HMGXB3, HMHB1, HMMR, HNRNPA0, HNRNPAB, HNRNPH1, HOMER1, HRH2, HSD17B4, HSPA4, HSPA9, HSPB3, HTR1A, HTR4, ICE1, IGIP, IK, IL12B, IL13, IL17B, IL3, IL31RA, IL4, IL5, IL6ST, IL7R, IL9, INSYN2B, IPO11, IQGAP2, IRF1, IRGM, IRX1, IRX2, IRX2-DT, IRX4, ISL1, ISOC1, ITGA1, ITGA2, ITK, JADE2, JAKMIP2, JMY, KCNIP1, KCNMB1, KCNN2, KCTD16, KDM3B, KGD4, KIAA0825, KIAA1191, KIF20A, KIF2A, KIF3A, KIF4B, KLHL3, LARP1, LARS1, LCP2, LEAP2, LECT2, LHFPL2, LIFR, LINC01194, LINC02899, LIX1, LMAN2, LMBRD2, LMNB1, LNPEP, LOC100128059, LOC100288254, LOX, LPCAT1, LRRC14B, LRRC70, LRRTM2, LSM11, LTC4S, LUCAT1, LVRN, LYRM7, LYSMD3, MACIR, MACROH2A1, MAML1, MAN2A1, MAP1B, MAP3K1, MAPK9, MARCHF11, MARCHF3, MARCHF6, MARVELD2, MAST4, MAT2B, MATR3, MBLAC2, MCC, MCCC2, MCIDAS, MCTP1, MED10, MED7, MEF2C, MEGF10, MFAP3, MGAT1, MGAT4B, MIER3, MINAR2, MIR103A1, MIR143, MIR145, MIR146A, MIR378A, MIR449A, MIR449B, MIR9-2, MOCS2, MRNIP, MROH2B, MRPL22, MRPL36, MRPS27, MRPS30, MSH3, MSX2, MTMR12, MTREX, MTRNR2L2, MTRR, MTX3, MXD3, MYO10, MYOT, MYOZ3, MZB1, N4BP3, NADK2, NAIP, NCRUPAR, NDFIP1, NDST1, NDUFA2, NDUFAF2, NDUFS4, NDUFS6, NEURL1B, NEUROG1, NHP2, NIPAL4, NIPBL, NKD2, NKX2-5, NLN, NME5, NMUR2, NNT, NOP16, NPM1, NPR3, NR2F1, NR3C1, NREP, NRG2, NSA2, NSD1, NSUN2, NUDCD2, NUDT12, NUP155, OCLN, OR2V1, OR2V2, OR2Y1, OR4F3, OSMR, OTP, OTULIN, OTULIN-DT, OTULINL, OXCT1, P4HA2, PAIP1, PAIP2, PAM, PANK3, PARP8, PART1, PCBD2, PCDH1, PCDH12, PCDHA1, PCDHA10, PCDHA11, PCDHA12, PCDHA13, PCDHA2, PCDHA3, PCDHA4, PCDHA5, PCDHA6, PCDHA7, PCDHA8, PCDHA9, PCDHA@, PCDHAC1, PCDHAC2, PCDHB1, PCDHB10, PCDHB11, PCDHB12, PCDHB13, PCDHB14, PCDHB15, PCDHB16, PCDHB2, PCDHB3, PCDHB4, PCDHB5, PCDHB6, PCDHB7, PCDHB8, PCDHB9, PCDHB@, PCDHGA1, PCDHGA10, PCDHGA11, PCDHGA12, PCDHGA2, PCDHGA3, PCDHGA4, PCDHGA5, PCDHGA6, PCDHGA7, PCDHGA8, PCDHGA9, PCDHGB1, PCDHGB2, PCDHGB3, PCDHGB4, PCDHGB5, PCDHGB6, PCDHGB7, PCDHGC3, PCDHGC4, PCDHGC5, PCSK1, PCYOX1L, PDCD6, PDE4D, PDE6A, PDE8B, PDGFRB, PDLIM4, PDLIM7, PDZD2, PELO, PFDN1, PFN3, PGGT1B, PHAX, PHYKPL, PIK3R1, PITX1, PJA2, PKD2L2, PLAC8L1, PLCXD3, PLEKHG4B, PLK2, PLPP1, POC5, POLK, POLR3G, POU4F3, POU5F2, PPARGC1B, PPIC, PPIP5K2, PPP2CA, PPP2R2B, PPWD1, PRDM6, PRDM9, PRELID1, PRELID2, PRKAA1, PRLR, PROB1, PROP1, PRR16, PRR7, PRRC1, PSD2, PTCD2, PTGER4, PTTG1, PURA, PWWP2A, RAB24, RAB3C, RACK1, RAD1, RAD17, RAD50, RAI14, RANBP17, RANBP3L, RAPGEF6, RARS1, RASA1, RASGEF1C, RASGRF2, RBM22, RBM27, REEP2, REEP5, RELL2, RETREG1, RFESD, RGMB, RGS14, RGS7BP, RHOBTB3, RICTOR, RIMOC1, RIOK2, RMND5B, RNF130, RNF14, RNF145, RNF180, RNF44, ROPN1L, RPL26L1, RPL37, RPS14, RPS23, RUFY1, RXFP3, S100Z, SAP30L, SAR1B, SCAMP1, SCARNA18, SCGB3A1, SCGB3A2, SDHA, SEC24A, SELENOP, SEMA5A, SEMA6A, SEPTIN8, SERF1A, SERF1B, SERINC5, SETD9, SFXN1, SGCD, SGTB, SH3PXD2B, SH3RF2, SH3TC2, SHISAL2B, SHROOM1, SIL1, SIMC1, SKIC3, SKP1, SKP2, SLC12A2, SLC12A7, SLC1A3, SLC22A4, SLC22A5, SLC23A1, SLC25A2, SLC25A46, SLC25A48, SLC26A2, SLC27A6, SLC30A5, SLC34A1, SLC35A4, SLC36A1, SLC36A2, SLC36A3, SLC38A9, SLC45A2, SLC4A9, SLC6A18, SLC6A19, SLC6A3, SLC6A7, SLC9A3, SLCO4C1, SLCO6A1, SLF1, SLIT3, SLU7, SMAD5, SMIM15, SMIM23, SMIM3, SMN1, SMN2, SNCAIP, SNCB, SNHG4, SNORA74B, SNX18, SNX2, SNX24, SOWAHA, SOX30, SPARC, SPATA24, SPATA9, SPDL1, SPEF2, SPINK1, SPINK13, SPINK14, SPINK5, SPINK6, SPINK7, SPINK9, SPMIP10, SPOCK1, SPRY4, SPZ1, SQSTM1, SRA1, SRD5A1, SREK1, SREK1IP1, SRFBP1, SRP19, SSBP2, ST8SIA4, STARD4, STC2, STING1, STK10, STK32A, SUB1, SV2C, SYNPO, TAF7, TAF9, TARS1, TAS2R1, TBC1D9B, TBCA, TCERG1, TCF7, TCOF1, TENM2, TENT2, TENT4A, TERT, TGFBI, THBS4, THG1L, THOC3, TICAM2, TIFAB, TIGD6, TIMD4, TLX3, TMCO6, TMED7, TMED7-TICAM2, TMED9, TMEM161B, TMEM167A, TMEM171, TMEM174, TMEM232, TMEM267, TNFAIP8, TNIP1, TNPO1, TPPP, TRAPPC13, TRIM23, TRIM36, TRIM41, TRIM52, TRIM7, TRIO, TRIP13, TRK-CTT2-3, TRP-TGG3-1, TRPC7, TRT-TGT6-1, TRV-AAC1-4, TRV-CAC1-2, TSLP, TSPAN17, TSSK1B, TTC1, TTC23L, TTC33, TXNDC15, UBE2B, UBE2D2, UBE2QL1, UBLCP1, UBTD2, UGT3A1, UGT3A2, UIMC1, UNC5A, UQCRQ, UTP15, VCAN, VDAC1, VTRNA1-1, VTRNA1-2, VTRNA1-3, VTRNA2-1, WDR36, WDR41, WDR55, WDR70, WNT8A, WWC1, XRCC4, YIPF5, YTHDC2, ZBED3, ZCCHC10, ZCCHC9, ZDHHC11, ZDHHC11B, ZFP2, ZFP62, ZFR, ZFYVE16, ZMAT2, ZNF131, ZNF300, ZNF346, ZNF354A, ZNF354B, ZNF354C, ZNF366, ZNF454, ZNF474, ZNF608, ZNF622, ZNF879, ZSWIM6 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr5:161650030-164111161
| HMMR, MAT2B, NUDCD2, CCNG1 | | not provided | Uncertain significance (Jan 3, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr5:17628741-176575720
| ABLIM3, ACOT12, ACSL6, ACTBL2, ADAM19, ADAMTS12, ADAMTS19, ADAMTS6, ADGRV1, ADRA1B, ADRB2, AFAP1L1, AFF4, AGGF1, AGXT2, ALDH7A1, AMACR, ANKDD1B, ANKHD1, ANKHD1-EIF4EBP3, ANKRA2, ANKRD31, ANKRD34B, ANKRD55, ANXA2R, ANXA6, AP3B1, AP3S1, APBB3, APC, ARAP3, ARB2A, ARHGAP26, ARHGEF28, ARHGEF37, ARL10, ARL14EPL, ARL15, ARRDC3, ARSB, ARSI, ARSK, ATG10, ATG12, ATOX1, ATP10B, ATP6AP1L, ATP6V0E1, BDP1, BHMT, BHMT2, BNIP1, BOD1, BRD8, BRIX1, BTF3, C1QTNF2, C1QTNF3, C5orf15, C5orf22, C5orf24, C5orf34, C5orf46, C5orf47, C5orf52, C5orf58, C5orf63, C5orf64, C6, C7, C9, CAMK2A, CAMK4, CAMLG, CAPSL, CARD6, CARTPT, CAST, CATSPER3, CCDC112, CCDC125, CCDC152, CCDC69, CCL28, CCNB1, CCNG1, CCNH, CCNI2, CCNJL, CCNO, CD14, CD180, CD74, CDC20B, CDC23, CDC25C, CDC42SE2, CDH10, CDH12, CDH18, CDH6, CDH9, CDHR2, CDK7, CDKL3, CDKN2AIPNL, CDO1, CDX1, CENPH, CENPK, CEP120, CERT1, CETN3, CHD1, CHSY3, CKMT2, CLINT1, CLTB, CMYA5, CNOT8, |