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Items: 1 to 100 of 1991

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
LOC123497907, LOC123497908, LOC123497909, LOC126807300, LOC126807301, LOC126807323, LOC126807324, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807378, LOC126807404, LOC126807405, LOC128772264, LOC129389254, LOC129389283, LOC129389284, LOC129993540, LOC129993541, LOC129993569, LOC129993570, LOC129993571, LOC129993596, LOC129993597, LOC129993598, LOC129993621, LOC129993622, LOC129993623, LOC129993652, LOC129993653, LOC129993681, LOC129993682, LOC129993708, LOC129993737, LOC129993765, LOC129993766, LOC129993767, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993656, LOC129993657, LOC129993683, LOC129993684, LOC129993685, LOC129993626, LOC129993627, LOC129993628, LOC129993686, LOC129993687, LOC129993688, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993713, LOC129993714, LOC129993599, LOC129993624, LOC129993625, LOC129993600, LOC129993601, LOC129993602, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129993738, LOC129993739, LOC129389285, LOC129389286, LOC129389287, LOC126807382, LOC126807383, LOC126807384, LOC129389259, LOC129389260, LOC129389261, LOC129993740, LOC129993741, LOC129993742, LOC129993542, LOC129993543, LOC129389288, LOC126807353, LOC126807379, LOC126807380, LOC126807381, LOC129993544, LOC129993545, LOC129993546, LOC126807303, LOC129993654, LOC129993655, LOC124901163, LOC124901178, LOC126807280, LOC126807354, LOC126807355, LOC126807356, LOC126807302, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807281, LOC126807282, LOC126807325, LOC126807326, LOC126807327, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC126807283, LOC126807304, LOC126807305, LOC126807328, LOC126807329, LOC126807330, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807385, LOC126807386, LOC126807410, LOC126807411, LOC129389262, LOC129389263, LOC129389264, LOC129389289, LOC129389290, LOC129993547, LOC129993548, LOC129993549, LOC129993577, LOC129993578, LOC129993579, LOC129993603, LOC129993604, LOC129993605, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993658, LOC129993659, LOC129993689, LOC129993690, LOC129993691, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993743, LOC129993744, LOC129993745, LOC129993768, LOC129993769, LOC129993770, LOC129993793, LOC129993794, LOC129993795, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993782, LOC129993783, LOC129993784, LOC129993787, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993785, LOC129993786, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993755, LOC129993756, LOC129993753, LOC129993754, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993762, LOC129993763, LOC129993764, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993796, LOC129993797, LOC129993798, LOC129993727, LOC129993728, LOC129993729, LOC129993696, LOC129993697, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993650, LOC129993651, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993646, LOC129993647, LOC129993610, LOC129993611, LOC129993616, LOC129993617, LOC129993618, LOC129993608, LOC129993609, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993606, LOC129993607, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993585, LOC129993586, LOC129993593, LOC129993594, LOC129993595, LOC129993619, LOC129993620, LOC129993648, LOC129993649, LOC129993580, LOC129993566, LOC129993567, LOC129993568, LOC129993555, LOC129993556, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993557, LOC129993558, LOC129993559, LOC129389293, LOC129389294, LOC129389296, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129389299, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129389297, LOC129389298, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129993532, LOC129993533, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389271, LOC129389272, LOC129389273, LOC129389274, LOC129389279, LOC129389280, LOC129389281, LOC129389282, LOC126807412, LOC126807413, LOC126807414, LOC126807421, LOC127402905, LOC128462395, LOC128667222, LOC128772262, LOC126807415, LOC126807416, LOC126807417, LOC126807418, LOC126807419, LOC126807420, LOC126807402, LOC126807403, LOC128772263, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC129389291, LOC129389292, LOC126807394, LOC126807395, LOC126807362, LOC126807363, LOC126807364, LOC126807372, LOC126807373, LOC126807374, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807375, LOC126807376, LOC126807377, LOC126807365, LOC126807371, LOC126807396, LOC126807361, LOC126807344, LOC126807345, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807346, LOC126807347, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807342, LOC126807343, LOC126807312, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807313, LOC126807314, LOC126807315, LOC126807295, LOC126807296, LOC126807297, LOC126807289, LOC126807290, LOC126807298, LOC126807299, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC123493324, LOC123493325, LOC123493326, LOC123493330, LOC123493331, LOC123493320, LOC123493321, LOC123493327, LOC123493329, LOC123493322, LOC123493323, LOC123493332, LOC123493333, LOC123493334, LOC123493335, LOC123497905, LOC123497906, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC129993913, LOC129993914, LOC129993915, LOC129993916, LOC129993917, LOC129993918, LOC129993919, LOC129993920, LOC129993921, LOC129993922, LOC129993923, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC129993958, LOC129993959, LOC129993960, LOC129993961, LOC129993962, LOC129993963, LOC129993964, LOC129993965, LOC129993966, LOC129993967, LOC129993968, LOC129993969, LOC129993970, LOC129993971, LOC129993972, LOC129993973, LOC129993974, LOC129993975, LOC129993976, LOC129993977, LOC129993978, LOC129993979, LOC129993980, LOC129993981, LOC129993982, LOC129993983, LOC129993984, LOC129993985, LOC129993986, LOC129993987, LOC129993988, LOC129993989, LOC129993990, LOC129993991, LOC129993992, LOC129993993, LOC129993994, LOC129993995, LOC129993996, LOC129993997, LOC129993998, LOC129993999, LOC129994000, LOC129994001, LOC129994002, LOC129994003, LOC129994004, LOC129994005, LOC129994006, LOC129994007, LOC129994008, LOC129994009, LOC129994010, LOC129994011, LOC129994012, LOC129994013, LOC129994014, LOC129994015, LOC129994016, LOC129994017, LOC129994018, LOC129994019, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, LOC129994027, LOC129994028, LOC129994029, LOC129994030, LOC129994031, LOC129994032, LOC129994033, LOC129994034, LOC129994035, LOC129994036, LOC129994037, LOC129994038, LOC129994039, LOC129994040, LOC129994041, LOC129994042, LOC129994043, LOC129994044, LOC129994045, LOC129994046, LOC129994047, LOC129994048, LOC129994049, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089276, LOC132089277, LOC132089278, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132090727, LOC132090728, LOC132090729, LOC132090730, LOC132090731, LOC132205959, LOC132205960, LOC340090, LPCAT1, LRRC14B, LRRC70, LSINCT5, MAP1B, MAP3K1, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MARVELD2, MAST4, MAST4-AS1, MCCC2, MCIDAS, MED10, MIER3, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR449A, MIR449B, MIR449C, MIR4635, MIR4636, MIR4637, MIR4803, MIR4804, MIR548AE2, MIR5687, MIR579, MIR580, MIR581, MIR582, MIR6075, MIR6131, MIR887, MNS16A, MOCS2, MOCS2-DT, MROH2B, MRPL36, MRPS27, MRPS30, MRPS30-DT, MTMR12, MTREX, MTRR, MYO10, NADK2, NADK2-AS1, NAIP, NDUFAF2, NDUFS4, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NLN, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OCLN, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDE4D, PDZD2, PELO, PELO-AS1, PIK3R1, PLCXD3, PLEKHG4B, PLK2, PLPP1, PPWD1, PRDM9, PRKAA1, PRLR, PTCD2, PTGER4, PURPL, RAB3C, RAD1, RAD17, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RGS7BP, RICTOR, RIMOC1, RMEL3, RNF180, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SERF1A, SERF1B, SETD9, SGTB, SHISAL2B, SHLD3, SKP2, SLC12A7, SLC1A3, SLC30A5, SLC38A9, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SMIM15, SMIM15-AS1, SMN-AS1, SMN1, SMN2, SNHG18, SNORA105A, SNORA50D, SNORD123, SNORD13B-1, SNORD13B-2, SNORD141B, SNORD170, SNORD72, SNX18, SPEF2, SRD5A1, SREK1, SREK1IP1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAF9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TILRLS, TMEM171, TMEM174, TMEM267, TNPO1, TNPO1-DT, TPPP, TRAPPC13, TRIM23, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, UTP15, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF366, ZNF622, ZSWIM6, ACTBL2, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADAMTS6, ADCY2, AGXT2, AHRR, AK6, AMACR, ANKH, ANKRA2, ANKRD33B, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARHGEF28, ARL15, ATPSCKMT, BASP1, BASP1-AS1, BDP1, BRD9, BRIX1, BTF3, BTF3-DT, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CARTPT, CCDC125, CCDC127, CCDC152, CCL28, CCNB1, CCNO, CCNO-DT, CCT5, CD180, CDC20B, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CDK7, CENPH, CENPK, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CREST1, CREST2, CREST3, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, CWC27, DAB2, DAP, DAP-DT, DDX4, DEPDC1B, DHX29, DIMT1, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERBIN, ERCC8, ERCC8-AS1, ESM1, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FCHO2, FCHO2-DT, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FOXD1, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GOLPH3, GPBP1, GPX8, GTF2H2, GTF2H2C, GZMA, GZMK, H3Y1, H3Y2, HCN1, HMGCS1, HSPB3, HTR1A, ICE1, IL31RA, IL6ST, IL6ST-DT, IL7R, IPO11, IPO11-LRRC70, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, KGD4, KIF2A, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01033, LINC01157, LINC01194, LINC01265, LINC01331, LINC01333, LINC01335, LINC01377, LINC01386, LINC01511, LINC01948, LINC02057, LINC02061, LINC02063, LINC02064, LINC02065, LINC02101, LINC02102, LINC02103, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02118, LINC02119, LINC02120, LINC02121, LINC02122, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02197, LINC02198, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02219, LINC02220, LINC02221, LINC02223, LINC02224, LINC02225, LINC02226, LINC02228, LINC02229, LINC02230, LINC02236, LINC02239, LINC02241, LINC02242, LINC02899, LINC02982, LINC02996, LINC02997, LINC02998, LINC03122, LINC03123, LMBRD2, LNCBRM, LOC100130744, LOC100132356, LOC100506639, LOC100506858, LOC101928505, LOC101928651, LOC101928924, LOC101929645, LOC102467081, LOC102503427, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC105374704, LOC105374715, LOC105374748, LOC105378979, LOC105378997, LOC105379030, LOC106029242, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108281172, LOC108348025, LOC109286569, LOC110120635, LOC110120690, LOC110120695, LOC110120697, LOC110120712, LOC110120713, LOC110120722, LOC110120760, LOC110121020, LOC110121055, LOC110121060, LOC110121170, LOC110806263, LOC110806264, LOC111089946, LOC111365172, LOC111365215, LOC111501791, LOC111556106, LOC111556114, LOC111556121, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC113002586, LOC113002587, LOC113002588, LOC113002589, LOC113002590, LOC113002591, LOC114004392, LOC114004393, LOC114004394, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC116158518, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121079939, LOC121079940, LOC121079941, LOC121079942, LOC121079943, LOC121079944, LOC121079945, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC121725205, LOC121725206, LOC121725207, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr5:50093-46115086
GRCh38:
Chr5:49978-46114984
CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAB2, DAP, DAP-DT, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, GOLPH3, H3Y1, H3Y2, HCN1, HMGCS1, ICE1, IL7R, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01265, LINC01377, LINC01511, LINC02061, LINC02063, LINC02064, LINC02102, LINC02103, LINC02104, LINC02107, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02119, LINC02120, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02224, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LINC02982, LINC02996, LMBRD2, LOC100130744, LOC100132356, LOC100506639, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC105374704, LOC105374715, LOC105374748, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108348025, LOC110120635, LOC110120690, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111501791, LOC111556114, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC113002586, LOC113002587, LOC114004392, LOC114004393, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC124901163, LOC124901178, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC128667222, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129389260, LOC129389261, LOC129389262, LOC129389263, LOC129389264, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129389271, LOC129389272, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC127, CCDC152, CCL28, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CFAP90, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740, LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC129993745, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993753, LOC129993754, LOC129993755, LOC129993756, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993762, LOC129993763, LOC129993764, LOC129993765, LOC129993766, LOC129993767, LOC129993768, LOC129993769, LOC129993770, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993782, LOC129993783, LOC129993784, LOC129993785, LOC129993786, LOC129993787, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993793, LOC129993794, LOC129993795, LOC129993796, LOC129993797, LOC129993798, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132090727, LOC132090728, LOC132090729, LOC132090730, LOC132205959, LOC132205960, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR579, MIR580, MIR6075, MIR6131, MIR887, MNS16A, MROH2B, MRPL36, MRPS30, MRPS30-DT, MTMR12, MTRR, MYO10, NADK2, NADK2-AS1, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLCXD3, PLEKHG4B, PRDM9, PRKAA1, PRLR, PTGER4, PURPL, RAD1, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RICTOR, RIMOC1, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SKP2, SLC12A7, SLC1A3, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SNORD72, SPEF2, SRD5A1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TMEM267, TPPP, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF622
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr5:54954-45649963
GRCh38:
Chr5:54839-45649861
LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132090727, LOC132090728, LOC132090729, LOC132090730, LOC132205959, LOC132205960, LPCAT1, LRRC14B, LSINCT5, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MED10, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR4635, MIR4636, MIR4637, MIR579, MIR580, MIR6075, MIR6131, MIR887, MNS16A, MROH2B, MRPL36, MRPS30, MRPS30-DT, MTMR12, MTRR, MYO10, NADK2, NADK2-AS1, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDZD2, PLCXD3, PLEKHG4B, PRDM9, PRKAA1, PRLR, PTGER4, PURPL, RAD1, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RICTOR, RIMOC1, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SKP2, SLC12A7, SLC1A3, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SNHG18, SNORA105A, SNORD123, SNORD141B, SNORD170, SNORD72, SPEF2, SRD5A1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TMEM267, TPPP, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF622, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC124901163, LOC124901178, LOC126807280, LOC126807281, LOC126807282, LOC126807283, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807289, LOC126807290, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC126807295, LOC126807296, LOC126807297, LOC126807298, LOC126807299, LOC126807300, LOC126807301, LOC126807302, LOC126807303, LOC126807304, LOC126807305, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807312, LOC126807313, LOC126807314, LOC126807315, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807323, LOC126807324, LOC126807325, LOC126807326, LOC126807327, LOC126807328, LOC126807329, LOC126807330, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807342, LOC126807343, LOC126807344, LOC126807345, LOC126807346, LOC126807347, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807353, LOC126807354, LOC126807355, LOC126807356, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC128667222, LOC128772262, LOC128772263, LOC128772264, LOC129389254, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129389259, LOC129389260, LOC129389261, LOC129389262, LOC129389263, LOC129389264, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129389271, LOC129389272, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129993532, LOC129993533, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993540, LOC129993541, LOC129993542, LOC129993543, LOC129993544, LOC129993545, LOC129993546, LOC129993547, LOC129993548, LOC129993549, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129993555, LOC129993556, LOC129993557, LOC129993558, LOC129993559, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993566, LOC129993567, LOC129993568, LOC129993569, LOC129993570, LOC129993571, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993577, LOC129993578, LOC129993579, LOC129993580, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993585, LOC129993586, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993593, LOC129993594, LOC129993595, LOC129993596, LOC129993597, LOC129993598, LOC129993599, LOC129993600, LOC129993601, LOC129993602, LOC129993603, LOC129993604, LOC129993605, LOC129993606, LOC129993607, LOC129993608, LOC129993609, LOC129993610, LOC129993611, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993616, LOC129993617, LOC129993618, LOC129993619, LOC129993620, LOC129993621, LOC129993622, LOC129993623, LOC129993624, LOC129993625, LOC129993626, LOC129993627, LOC129993628, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993646, LOC129993647, LOC129993648, LOC129993649, LOC129993650, LOC129993651, LOC129993652, LOC129993653, LOC129993654, LOC129993655, LOC129993656, LOC129993657, LOC129993658, LOC129993659, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993681, LOC129993682, LOC129993683, LOC129993684, LOC129993685, LOC129993686, LOC129993687, LOC129993688, LOC129993689, LOC129993690, LOC129993691, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993696, LOC129993697, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993708, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993713, LOC129993714, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993727, LOC129993728, LOC129993729, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993737, LOC129993738, LOC129993739, LOC129993740, LOC129993741, LOC129993742, LOC129993743, LOC129993744, LOC129993745, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993753, LOC129993754, LOC129993755, LOC129993756, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993762, LOC129993763, LOC129993764, LOC129993765, LOC129993766, LOC129993767, LOC129993768, LOC129993769, LOC129993770, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993782, LOC129993783, LOC129993784, LOC129993785, LOC129993786, LOC129993787, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993793, LOC129993794, LOC129993795, LOC129993796, LOC129993797, LOC129993798, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADCY2, AGXT2, AHRR, AMACR, ANKH, ANKRD33B, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ATPSCKMT, BASP1, BASP1-AS1, BRD9, BRIX1, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC127, CCDC152, CCL28, CCT5, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, DAB2, DAP, DAP-DT, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, GOLPH3, H3Y1, H3Y2, HCN1, HMGCS1, ICE1, IL7R, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01194, LINC01265, LINC01377, LINC01511, LINC02061, LINC02063, LINC02064, LINC02102, LINC02103, LINC02104, LINC02107, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02119, LINC02120, LINC02121, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02220, LINC02221, LINC02223, LINC02224, LINC02226, LINC02228, LINC02236, LINC02239, LINC02241, LINC02899, LINC02982, LINC02996, LMBRD2, LOC100130744, LOC100132356, LOC100506639, LOC100506858, LOC101929645, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC105374704, LOC105374715, LOC105374748, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108348025, LOC110120635, LOC110120690, LOC110120695, LOC110120713, LOC110120722, LOC110120760, LOC110121060, LOC110806263, LOC110806264, LOC111501791, LOC111556114, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC113002586, LOC113002587, LOC114004392, LOC114004393, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC121056758, LOC121056759
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr5:35201661-61198968
GRCh38:
Chr5:35201559-61903141
ACTBL2, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARL15, C5orf34, C5orf34-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC152, CCL28, CCNO, CCNO-DT, CDC20B, CPLANE1, CPLANE1-AS1, CREST1, CREST2, CREST3, DAB2, DDX4, DEPDC1B, DHX29, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERCC8, ERCC8-AS1, ESM1, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GPBP1, GPX8, GZMA, GZMK, HCN1, HMGCS1, HSPB3, IL31RA, IL6ST, IL6ST-DT, IL7R, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01033, LINC01265, LINC01948, LINC02057, LINC02101, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02110, LINC02118, LINC02119, LINC02224, LINC02225, LINC02996, LINC02998, LINC03122, LINC03123, LMBRD2, LNCBRM, LOC100132356, LOC100506639, LOC101928505, LOC101928651, LOC102467081, LOC105374748, LOC105378979, LOC105378997, LOC106029242, LOC107963949, LOC107963950, LOC108281172, LOC108348025, LOC109286569, LOC110120690, LOC110120697, LOC110120712, LOC110121020, LOC110121055, LOC110121170, LOC111365172, LOC111365215, LOC111501791, LOC111556114, LOC111556121, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC114004392, LOC114004393, LOC114004394, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC126807383, LOC126807384, LOC126807385, LOC126807386, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807394, LOC126807395, LOC126807396, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC126807402, LOC126807403, LOC126807404, LOC126807405, LOC126807406, LOC126807407, LOC127402905, LOC128462395, LOC128667222, LOC129389272, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129389282, LOC129389283, LOC129389284, LOC129389285, LOC129389286, LOC129389287, LOC129389288, LOC129389289, LOC129389290, LOC129993794, LOC129993795, LOC129993796, LOC129993797, LOC129993798, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC129993913, LOC129993914, LOC129993915, LOC129993916, LOC129993917, LOC129993918, LOC129993919, LOC129993920, LOC129993921, LOC129993922, LOC129993923, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089276, LOC132089277, LOC132089278, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288, LOC132090728, LOC132090729, LOC132090730, LOC132090731, MAP3K1, MCIDAS, MIER3, MIR3650, MIR449A, MIR449B, MIR449C, MIR548AE2, MIR5687, MIR580, MIR581, MIR582, MOCS2, MOCS2-DT, MROH2B, MRPS30, MRPS30-DT, MTREX, NADK2, NADK2-AS1, NDUFAF2, NDUFS4, NIM1K, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OSMR-DT, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDE4D, PELO, PELO-AS1, PLCXD3, PLK2, PLPP1, PRKAA1, PRLR, PTGER4, RAB3C, RANBP3L, RICTOR, RIMOC1, RMEL3, RPL37, SELENOP, SETD9, SKP2, SLC1A3, SLC38A9, SMIM15, SMIM15-AS1, SNORD72, SNX18, SPEF2, TMEM267, TTC33, UGT3A1, UGT3A2, WDR70, ZNF131, ZSWIM6
See casesPathogenic
(May 6, 2011)
no assertion criteria provided
5.
GRCh37:
Chr5:35700582-45260131
GRCh38:
Chr5:35700480-45260029
LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC128667222, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129993794, LOC129993795, LOC129993796, LOC129993797, LOC129993798, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132090728, LOC132090729, LOC132090730, MIR3650, MIR580, MROH2B, MRPS30, MRPS30-DT, NADK2, NADK2-AS1, NIM1K, OSMR-DT, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OXCT1, OXCT1-AS1, PAIP1, PLCXD3, PRKAA1, PTGER4, RANBP3L, RICTOR, RIMOC1, RPL37, SELENOP, SKP2, SLC1A3, SNORD72, SPEF2, TMEM267, TTC33, UGT3A1, UGT3A2, WDR70, ZNF131, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, C5orf34, C5orf34-AS1, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CCDC152, CCL28, CPLANE1, CPLANE1-AS1, DAB2, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, HCN1, HMGCS1, IL7R, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01265, LINC02104, LINC02107, LINC02110, LINC02119, LINC02224, LINC02996, LMBRD2, LOC100132356, LOC100506639, LOC105374748, LOC107963949, LOC107963950, LOC108348025, LOC110120690, LOC111501791, LOC111556114, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC114004392, LOC114004393, LOC116158513, LOC116158514, LOC121056762, LOC121056763, LOC121056764, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr5:36374209-50399675
GRCh38:
Chr5:36374107-51103841
ANXA2R, ANXA2R-AS1, ANXA2R-OT1, C5orf34, C5orf34-AS1, C6, C7, C9, CARD6, CCDC152, CCL28, CPLANE1, CPLANE1-AS1, CREST3, DAB2, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, EMB, FBXO4, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FYB1, GDNF, GDNF-AS1, GHR, HCN1, HMGCS1, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01265, LINC02104, LINC02106, LINC02107, LINC02110, LINC02119, LINC02224, LINC02996, LOC100132356, LOC100506639, LOC105374748, LOC107963949, LOC107963950, LOC108348025, LOC110120690, LOC110121020, LOC111501791, LOC111556114, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC114004393, LOC116158513, LOC116158514, LOC121056762, LOC121056763, LOC121056764, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC126807358, LOC126807359, LOC126807360, LOC126807361, LOC126807362, LOC126807363, LOC126807364, LOC126807365, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807371, LOC126807372, LOC126807373, LOC126807374, LOC126807375, LOC126807376, LOC126807377, LOC126807378, LOC126807379, LOC126807380, LOC126807381, LOC126807382, LOC126807383, LOC128667222, LOC129389273, LOC129389274, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389279, LOC129389280, LOC129389281, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132090728, LOC132090729, LOC132090730, MIR3650, MROH2B, MRPS30, MRPS30-DT, NIM1K, NIPBL, NIPBL-DT, NNT, NNT-AS1, NUP155, OSMR, OSMR-DT, OXCT1, OXCT1-AS1, PAIP1, PARP8, PLCXD3, PRKAA1, PTGER4, RICTOR, RIMOC1, RPL37, SELENOP, SLC1A3, SNORD72, TMEM267, TTC33, WDR70, ZNF131
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr5:36886635-37331912
GRCh38:
Chr5:36886533-37331810
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr5:36906377-37606367
GRCh38:
Chr5:36906275-37606265
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr5:37016145-39383383
GRCh38:
Chr5:37016043-39383281
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr5:37054962-37586210
GRCh38:
Chr5:37054860-37586108
See casesUncertain significance
(Sep 16, 2011)
no assertion criteria provided
11.
GRCh37:
Chr5:37072236-37092106
GRCh38:
Chr5:37072134-37092004
CPLANE1not specifiedBenign
(May 8, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr5:37106335
GRCh38:
Chr5:37106233
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr5:37106386
GRCh38:
Chr5:37106284
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr5:37106807
GRCh38:
Chr5:37106705
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr5:37106815
GRCh38:
Chr5:37106713
CPLANE1Joubert syndrome 17Benign
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr5:37106832
GRCh38:
Chr5:37106730
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr5:37106871
GRCh38:
Chr5:37106769
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr5:37106891
GRCh38:
Chr5:37106789
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr5:37106897
GRCh38:
Chr5:37106795
CPLANE1Joubert syndrome 17Likely benign
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr5:37106990
GRCh38:
Chr5:37106888
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr5:37107043
GRCh38:
Chr5:37106941
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr5:37107062
GRCh38:
Chr5:37106960
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr5:37107063
GRCh38:
Chr5:37106961
CPLANE1Joubert syndrome 17Benign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr5:37107186
GRCh38:
Chr5:37107084
CPLANE1not provided, Joubert syndrome 17Conflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
25.
GRCh37:
Chr5:37107233
GRCh38:
Chr5:37107131
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr5:37107239
GRCh38:
Chr5:37107137
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr5:37107263
GRCh38:
Chr5:37107161
CPLANE1Joubert syndrome 17Benign
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr5:37107277
GRCh38:
Chr5:37107175
CPLANE1Joubert syndrome 17Uncertain significance
(Mar 23, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr5:37107281
GRCh38:
Chr5:37107179
CPLANE1Joubert syndrome 17Likely benign
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr5:37107296
GRCh38:
Chr5:37107194
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr5:37107308
GRCh38:
Chr5:37107206
CPLANE1Joubert syndrome 17Likely benign
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr5:37107610
GRCh38:
Chr5:37107508
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr5:37107664
GRCh38:
Chr5:37107562
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr5:37107686
GRCh38:
Chr5:37107584
CPLANE1Joubert syndrome 17, not specifiedConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
35.
GRCh37:
Chr5:37107690
GRCh38:
Chr5:37107588
CPLANE1not specifiedLikely benigncriteria provided, single submitter
36.
GRCh37:
Chr5:37107706
GRCh38:
Chr5:37107604
CPLANE1not providedUncertain significance
(Feb 10, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr5:37107729
GRCh38:
Chr5:37107627
CPLANE1S3190C, S3244Cnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr5:37107730
GRCh38:
Chr5:37107628
CPLANE1S3190P, S3244Pnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:37107730
GRCh38:
Chr5:37107628
CPLANE1S3244A, S3190Anot providedUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr5:37107731
GRCh38:
Chr5:37107629
CPLANE1Joubert syndrome 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr5:37107748
GRCh38:
Chr5:37107646
CPLANE1V3184M, V3238Mnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr5:37107752-37108053
GRCh38:
Chr5:37107650-37107951
CPLANE1not providedUncertain significance
(Oct 8, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr5:37107754-37107756
GRCh38:
Chr5:37107652-37107654
CPLANE1V3181del, V3235delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
44.
GRCh37:
Chr5:37107760
GRCh38:
Chr5:37107658
CPLANE1M3180L, M3234LJoubert syndrome 17, Orofaciodigital syndrome type 6, not provided
Uncertain significance
(Jul 29, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr5:37107766
GRCh38:
Chr5:37107664
CPLANE1E3178K, E3232KJoubert syndrome 17, Orofaciodigital syndrome type 6, not provided
Uncertain significance
(Sep 21, 2021)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr5:37107771
GRCh38:
Chr5:37107669
CPLANE1A3176V, A3230Vnot providedUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr5:37107772
GRCh38:
Chr5:37107670
CPLANE1A3176T, A3230Tnot providedUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr5:37107772
GRCh38:
Chr5:37107670
CPLANE1A3176S, A3230Snot providedUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr5:37107781
GRCh38:
Chr5:37107679
CPLANE1D3227Y, D3173Ynot providedUncertain significance
(Aug 10, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:37107782
GRCh38:
Chr5:37107680
CPLANE1not providedLikely benign
(Mar 10, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr5:37107784
GRCh38:
Chr5:37107682
CPLANE1not providedLikely benign
(Feb 10, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:37107791
GRCh38:
Chr5:37107689
CPLANE1not providedLikely benignno assertion criteria provided
53.
GRCh37:
Chr5:37107817
GRCh38:
Chr5:37107715
CPLANE1V3161M, V3215Mnot providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:37107818
GRCh38:
Chr5:37107716
CPLANE1not providedUncertain significance
(Feb 1, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:37107826-37107827
GRCh38:
Chr5:37107724-37107725
CPLANE1V3158fs, V3212fsnot provided, Joubert syndrome 17Uncertain significance
(Feb 4, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr5:37107829
GRCh38:
Chr5:37107727
CPLANE1G3157S, G3211Snot providedUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr5:37107830
GRCh38:
Chr5:37107728
CPLANE1not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr5:37107850
GRCh38:
Chr5:37107748
CPLANE1E3150*, E3204*not specified, not providedUncertain significance
(Apr 6, 2023)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr5:37107871
GRCh38:
Chr5:37107769
CPLANE1P3143T, P3197Tnot providedUncertain significance
(Feb 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:37107872-37107875
GRCh38:
Chr5:37107770-37107773
CPLANE1L3141fs, L3195fsnot providedUncertain significance
(May 18, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr5:37107897
GRCh38:
Chr5:37107795
CPLANE1not providedLikely benign
(Oct 3, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr5:37107898
GRCh38:
Chr5:37107796
CPLANE1not providedLikely benign
(Feb 23, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr5:37107900
GRCh38:
Chr5:37107798
CPLANE1not providedBenign
(Oct 16, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:37108256
GRCh38:
Chr5:37108154
CPLANE1not providedLikely benign
(Aug 3, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr5:37108382
GRCh38:
Chr5:37108280
CPLANE1not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:37108388
GRCh38:
Chr5:37108286
CPLANE1not provided, Joubert syndrome 17, Orofaciodigital syndrome type 6
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr5:37108400
GRCh38:
Chr5:37108298
CPLANE1L3138V, L3192VJoubert syndrome 17, Orofaciodigital syndrome type 6, not provided,
Joubert syndrome 17
Uncertain significance
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:37108414
GRCh38:
Chr5:37108312
CPLANE1S3133fs, S3187fsnot providedPathogenic
(Feb 10, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr5:37108432
GRCh38:
Chr5:37108330
CPLANE1H3127R, H3181Rnot providedLikely benign
(Sep 12, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:37108432
GRCh38:
Chr5:37108330
CPLANE1H3127P, H3181Pnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr5:37108433
GRCh38:
Chr5:37108331
CPLANE1H3127Y, H3181Ynot providedUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr5:37108450
GRCh38:
Chr5:37108348
CPLANE1T3121M, T3175MOrofaciodigital syndrome type 6, Joubert syndrome 17, not provided,
Joubert syndrome 17
Uncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr5:37108457-37108458
GRCh38:
Chr5:37108355-37108356
CPLANE1not providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:37108460
GRCh38:
Chr5:37108358
CPLANE1S3118C, S3172Cnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:37108465
GRCh38:
Chr5:37108363
CPLANE1V3170G, V3116Gnot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr5:37108467
GRCh38:
Chr5:37108365
CPLANE1not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:37108478
GRCh38:
Chr5:37108376
CPLANE1R3112G, R3166Gnot providedUncertain significance
(Oct 13, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr5:37108485
GRCh38:
Chr5:37108383
CPLANE1not providedLikely benign
(Aug 8, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr5:37108488
GRCh38:
Chr5:37108386
CPLANE1not providedLikely benign
(May 17, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr5:37108493
GRCh38:
Chr5:37108391
CPLANE1C3107R, C3161Rnot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr5:37108494
GRCh38:
Chr5:37108392
CPLANE1not providedLikely benign
(Jun 20, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr5:37108496
GRCh38:
Chr5:37108394
CPLANE1V3106M, V3160Mnot providedUncertain significance
(Aug 29, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr5:37108501
GRCh38:
Chr5:37108399
CPLANE1K3104T, K3158Tnot providedUncertain significance
(Mar 29, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr5:37108503
GRCh38:
Chr5:37108401
CPLANE1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:37108507
GRCh38:
Chr5:37108405
CPLANE1Q3102R, Q3156Rnot provided, Orofaciodigital syndrome type 6, Joubert syndrome 17
Uncertain significance
(Apr 28, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr5:37108508
GRCh38:
Chr5:37108406
CPLANE1Q3102*, Q3156*not providedPathogenic
(May 9, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr5:37108520
GRCh38:
Chr5:37108418
CPLANE1G3098R, G3152RCPLANE1-related condition, not provided, Joubert syndrome 17
Conflicting interpretations of pathogenicity
(May 18, 2023)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr5:37108528
GRCh38:
Chr5:37108426
CPLANE1G3149E, G3095Enot providedUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr5:37108532
GRCh38:
Chr5:37108430
CPLANE1H3094Y, H3148Ynot providedUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr5:37108532-37108533
GRCh38:
Chr5:37108430-37108431
CPLANE1H3094fs, H3148fsOrofaciodigital syndrome type 6Likely pathogenic
(Jan 3, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr5:37108542
GRCh38:
Chr5:37108440
CPLANE1not providedLikely benign
(Aug 9, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr5:37108543
GRCh38:
Chr5:37108441
CPLANE1H3090R, H3144Rnot providedUncertain significance
(Aug 19, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr5:37108560
GRCh38:
Chr5:37108458
CPLANE1not providedLikely benign
(Jul 25, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:37108560
GRCh38:
Chr5:37108458
CPLANE1Joubert syndrome 17, not provided, not specified
Conflicting interpretations of pathogenicity
(Oct 15, 2022)
criteria provided, conflicting interpretations
95.
GRCh37:
Chr5:37108561
GRCh38:
Chr5:37108459
CPLANE1P3084L, P3138Lnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:37108562
GRCh38:
Chr5:37108460
CPLANE1P3084A, P3138Anot providedUncertain significance
(Jul 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr5:37108586
GRCh38:
Chr5:37108484
CPLANE1not providedLikely benign
(Jun 7, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr5:37114862
GRCh38:
Chr5:37114760
CPLANE1not providedLikely benign
(Oct 28, 2019)
criteria provided, single submitter
99.
GRCh37:
Chr5:37115001
GRCh38:
Chr5:37114899
CPLANE1not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
100.
GRCh37:
Chr5:37115045
GRCh38:
Chr5:37114943
CPLANE1not providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
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