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Items: 67

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Apr 2, 2012)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
5.
GRCh38:
Chr5:158887731-164722046
not specifiedUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr5:158368362-163813766
GRCh38:
Chr5:158941354-164386760
See casesPathogenic
(Jun 4, 2012)
no assertion criteria provided
7.
GRCh37:
Chr5:161336961-163513923
GRCh38:
Chr5:161909955-164086917
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr5:162890901
GRCh38:
Chr5:163463895
HMMRL29SInborn genetic diseasesLikely benign
(Mar 2, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr5:162890955
GRCh38:
Chr5:163463949
HMMRQ47LInborn genetic diseasesUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr5:162891750
GRCh38:
Chr5:163464744
HMMRV56DOvarian cancerBenign
(Jan 1, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr5:162894729
GRCh38:
Chr5:163467723
HMMRK83T, K82TInborn genetic diseasesUncertain significance
(Apr 13, 2023)
criteria provided, single submitter
12.
GRCh37:
Chr5:162896669
GRCh38:
Chr5:163469663
HMMRR12H, R83H, R98H, R99HInborn genetic diseasesUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
13.
GRCh37:
Chr5:162896779
GRCh38:
Chr5:163469773
HMMRT120A, T136A, T49A, T135AInborn genetic diseasesUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr5:162896825
GRCh38:
Chr5:163469819
HMMRL135P, L150P, L151P, L64POvarian cancerLikely pathogenic
(Jan 1, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr5:162898394
GRCh38:
Chr5:163471388
HMMRM105T, M192T, M176T, M191TInborn genetic diseasesUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr5:162898432
GRCh38:
Chr5:163471426
HMMRE118K, E189K, E204K, E205KInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:162898439
GRCh38:
Chr5:163471433
HMMRQ206R, Q120R, Q191R, Q207RInborn genetic diseasesUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr5:162900428
GRCh38:
Chr5:163473422
HMMRQ170*, Q241*, Q256*, Q257*Familial cancer of breastUncertain significance
(Aug 30, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr5:162900564
GRCh38:
Chr5:163473558
HMMRFamilial cancer of breastUncertain significance
(Mar 20, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr5:162901069
GRCh38:
Chr5:163474063
HMMRH217R, H303R, H288R, H304RInborn genetic diseasesUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr5:162901155
GRCh38:
Chr5:163474149
HMMRR317C, R246C, R332C, R333CInborn genetic diseasesLikely benign
(Mar 1, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr5:162902474
GRCh38:
Chr5:163475468
HMMRS268L, S354L, S355L, S339LInborn genetic diseasesUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
23.
GRCh37:
Chr5:162902514
GRCh38:
Chr5:163475508
HMMRM281I, M352I, M367I, M368IInborn genetic diseasesUncertain significance
(Nov 12, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr5:162902538
GRCh38:
Chr5:163475532
HMMRE289D, E360D, E375D, E376Dnot providedUncertain significanceno assertion criteria provided
25.
GRCh37:
Chr5:162905756
GRCh38:
Chr5:163478750
HMMRK445N, K358N, K429N, K444NInborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr5:162905781
GRCh38:
Chr5:163478775
HMMRE454K, E367K, E438K, E453KFamilial cancer of breastUncertain significancecriteria provided, single submitter
27.
GRCh37:
Chr5:162909657
GRCh38:
Chr5:163482651
HMMR, HMMR-AS1not providedLikely benign
(Jul 1, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr5:162909710
GRCh38:
Chr5:163482704
HMMR-AS1, HMMRE467G, E482G, E483G, E396GInborn genetic diseasesUncertain significance
(Jul 26, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr5:162909715
GRCh38:
Chr5:163482709
HMMR-AS1, HMMRA398T, A469T, A485T, A484TInborn genetic diseasesUncertain significance
(Dec 7, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr5:162910136
GRCh38:
Chr5:163483130
HMMR, HMMR-AS1Q547R, Q532R, Q461R, Q548Rnot providedBenign
(Apr 26, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr5:162910139
GRCh38:
Chr5:163483133
HMMR, HMMR-AS1E462V, E533V, E549V, E548VInborn genetic diseasesUncertain significance
(Nov 8, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:162910165
GRCh38:
Chr5:163483159
HMMR, HMMR-AS1D471H, D557H, D542H, D558Hnot providedBenign
(Apr 26, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr5:162910278
GRCh38:
Chr5:163483272
HMMR, HMMR-AS1A477T, A548T, A563T, A564TOvarian cancerBenign
(Jan 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr5:162910319
GRCh38:
Chr5:163483313
HMMR-AS1, HMMRI561M, I577M, I490M, I576MInborn genetic diseasesLikely benign
(Nov 8, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:162910330
GRCh38:
Chr5:163483324
HMMR, HMMR-AS1R494H, R565H, R580H, R581HInborn genetic diseasesUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr5:162911129
GRCh38:
Chr5:163484123
HMMR-AS1, HMMRA527T, A614T, A598T, A613TInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr5:162911140
GRCh38:
Chr5:163484134
HMMR-AS1, HMMRE601D, E617D, E530D, E616DInborn genetic diseasesUncertain significance
(Nov 10, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:162911217
GRCh38:
Chr5:163484211
HMMR, HMMR-AS1V556A, V627A, V642A, V643ABreast cancer, susceptibility toUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr5:162911228
GRCh38:
Chr5:163484222
HMMR, HMMR-AS1D560N, D631N, D646N, D647NInborn genetic diseasesUncertain significance
(Jun 6, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr5:162911258
GRCh38:
Chr5:163484252
HMMR-AS1, HMMRFamilial cancer of breastUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr5:162917399
GRCh38:
Chr5:163490393
HMMR, HMMR-AS1V569L, V655L, V656L, V640LInborn genetic diseasesUncertain significance
(Jun 30, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr5:162917447
GRCh38:
Chr5:163490441
HMMR, HMMR-AS1K671E, K585E, K656E, K672EInborn genetic diseasesUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr5:162917469
GRCh38:
Chr5:163490463
HMMR, HMMR-AS1K663T, K678T, K679T, K592TInborn genetic diseasesUncertain significance
(Jun 30, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr5:162917492
GRCh38:
Chr5:163490486
HMMR, HMMR-AS1D600Y, D671Y, D686Y, D687YOvarian cancerLikely pathogenic
(Jan 1, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:162917504
GRCh38:
Chr5:163490498
HMMR, HMMR-AS1A691P, A690P, A604P, A675PInborn genetic diseasesUncertain significance
(Nov 15, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr5:162917529
GRCh38:
Chr5:163490523
HMMR, HMMR-AS1N698S, N612S, N699S, N683SInborn genetic diseasesUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:156786013-162945369
not providedLikely pathogenic
(Nov 1, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:150535183-172906793
not providedPathogenic
(May 16, 2022)
criteria provided, single submitter
49.
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 craniosynostosisPathogenicno assertion criteria provided
50.
GRCh37:
Chr5:161880996-162958461
CCNG1, HMMR, MAT2B, NUDCD2See casesUncertain significance
(Mar 1, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr5:156347980-169959880
not providedPathogenic
(Jul 24, 2018)
no assertion criteria provided
52.
GRCh37:
Chr5:162636748-163072415
CCNG1, HMMR, MAT2B, NUDCD2not providedUncertain significance
(Dec 21, 2017)
no assertion criteria provided
53.
GRCh37:
Chr5:156597181-171166353
not providedPathogenic
(Sep 20, 2017)
no assertion criteria provided
54.
GRCh37:
Chr5:162866179-162917708
HMMR, NUDCD2, CCNG1not providedBenign
(Feb 26, 2013)
no assertion criteria provided
55.
GRCh37:
Chr5:162851132-162956290
HMMR, NUDCD2, MAT2B, CCNG1not providedBenign
(Nov 8, 2012)
no assertion criteria provided
56.
GRCh37:
Chr5:162851132-162956242
MAT2B, CCNG1, HMMR, NUDCD2not providedBenign
(May 8, 2012)
no assertion criteria provided
57.
GRCh37:
Chr5:162851132-162950527
NUDCD2, CCNG1, MAT2B, HMMRnot providedBenign
(Mar 12, 2012)
no assertion criteria provided
58.
GRCh37:
Chr5:155344802-180693344
not providedPathogenic
(Oct 30, 2014)
no assertion criteria provided
59.
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 providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
60.
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 providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
61.
GRCh37:
Chr5:161650030-164111161
HMMR, MAT2B, NUDCD2, CCNG1not providedUncertain significance
(Jan 3, 2018)
no assertion criteria provided
62.
GRCh37:
Chr5:17628741-176575720