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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr6:75092523-142361637
GRCh38:
Chr6:74382807-142040500
LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC123864072, LOC123864073, LOC123864074, LOC123864075, LOC123864076, LOC123864077, LOC123864078, LOC123864079, LOC123864080, LOC123864081, LOC123864082, LOC123864083, LOC123864084, LOC123864085, LOC123864086, LOC124900217, LOC126859712, LOC126859713, LOC126859714, LOC126859715, LOC126859716, LOC126859717, LOC126859718, LOC126859719, LOC126859720, LOC126859721, LOC126859722, LOC126859723, LOC126859724, LOC126859725, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC126859792, LOC126859793, LOC126859794, LOC126859795, LOC126859796, LOC126859797, LOC126859798, LOC126859799, LOC126859800, LOC126859801, LOC126859802, LOC126859803, LOC126859804, LOC126859805, LOC126859806, LOC126859807, LOC126859808, LOC126859809, LOC126859810, LOC126859811, LOC127407129, LOC128092253, LOC128559983, LOC128667231, LOC128669075, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389559, LOC129389560, LOC129389561, LOC129389562, LOC129389563, LOC129389564, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129389583, LOC129389584, LOC129389585, LOC129389586, LOC129389587, LOC129389588, LOC129389589, LOC129389590, LOC129389591, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, LOC129389645, LOC129389646, LOC129389647, LOC129389648, LOC129389649, LOC129389650, LOC129389651, LOC129389652, LOC129389653, LOC129389654, LOC129389655, LOC129389656, LOC129389657, LOC129389658, LOC129389659, LOC129389660, LOC129389661, LOC129389662, LOC129389663, LOC129389664, LOC129389665, LOC129996730, LOC129996731, LOC129996732, LOC129996733, LOC129996734, LOC129996735, LOC129996736, LOC129996737, LOC129996738, LOC129996739, LOC129996740, LOC129996741, LOC129996742, LOC129996743, LOC129996744, LOC129996745, LOC129996746, LOC129996747, LOC129996748, LOC129996749, LOC129996750, LOC129996751, LOC129996752, LOC129996753, LOC129996754, LOC129996755, LOC129996756, LOC129996757, LOC129996758, LOC129996759, LOC129996760, LOC129996761, LOC129996762, LOC129996763, LOC129996764, LOC129996765, LOC129996766, LOC129996767, LOC129996768, LOC129996769, LOC129996770, LOC129996771, LOC129996772, LOC129996773, LOC129996774, LOC129996775, LOC129996776, LOC129996777, LOC129996778, LOC129996779, LOC129996780, LOC129996781, LOC129996782, LOC129996783, LOC129996784, LOC129996785, LOC129996786, LOC129996787, LOC129996788, LOC129996789, LOC129996790, LOC129996791, LOC129996792, LOC129996793, LOC129996794, LOC129996795, LOC129996796, LOC129996797, LOC129996798, LOC129996799, LOC129996800, LOC129996801, LOC129996802, LOC129996803, LOC129996804, LOC129996805, LOC129996806, LOC129996807, LOC129996808, LOC129996809, LOC129996810, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LOC129996833, LOC129996834, LOC129996835, LOC129996836, LOC129996837, LOC129996838, LOC129996839, LOC129996840, LOC129996841, LOC129996842, LOC129996843, LOC129996844, LOC129996845, LOC129996846, LOC129996847, LOC129996848, LOC129996849, LOC129996850, LOC129996851, LOC129996852, LOC129996853, LOC129996854, LOC129996855, LOC129996856, LOC129996857, LOC129996858, LOC129996859, LOC129996860, LOC129996861, LOC129996862, LOC129996863, LOC129996864, LOC129996865, LOC129996866, LOC129996867, LOC129996868, LOC129996869, LOC129996870, LOC129996871, LOC129996872, LOC129996873, LOC129996874, LOC129996875, LOC129996876, LOC129996877, LOC129996878, LOC129996879, LOC129996880, LOC129996881, LOC129996882, LOC129996883, LOC129996884, LOC129996885, LOC129996886, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC129997091, LOC129997092, LOC129997093, LOC129997094, LOC129997095, LOC129997096, LOC129997097, LOC129997098, LOC129997099, LOC129997100, LOC129997101, LOC129997102, LOC129997103, LOC129997104, LOC129997105, LOC129997106, LOC129997107, LOC129997108, LOC129997109, LOC129997110, LOC129997111, LOC129997112, LOC129997113, LOC129997114, LOC129997115, LOC129997116, LOC129997117, LOC129997118, LOC129997119, LOC129997120, LOC129997121, LOC129997122, LOC129997123, LOC129997124, LOC129997125, LOC129997126, LOC129997127, LOC129997128, LOC129997129, LOC129997130, LOC129997131, LOC129997132, LOC129997133, LOC129997134, LOC129997135, LOC129997136, LOC129997137, LOC129997138, LOC129997139, LOC129997140, LOC129997141, LOC129997142, LOC129997143, LOC129997144, LOC129997145, LOC129997146, LOC129997147, LOC129997148, LOC129997149, LOC129997150, LOC129997151, LOC129997152, LOC129997153, LOC129997154, LOC129997155, LOC129997156, LOC129997157, LOC129997158, LOC129997159, LOC129997160, LOC129997161, LOC129997162, LOC129997163, LOC129997164, LOC129997165, LOC129997166, LOC129997167, LOC129997168, LOC129997169, LOC129997170, LOC129997171, LOC129997172, LOC129997173, LOC129997174, LOC129997175, LOC129997176, LOC129997177, LOC129997178, LOC129997179, LOC129997180, LOC129997181, LOC129997182, LOC129997183, LOC129997184, LOC129997185, LOC129997186, LOC129997187, LOC129997188, LOC129997189, LOC129997190, LOC129997191, LOC129997192, LOC129997193, LOC129997194, LOC129997195, LOC129997196, LOC129997197, LOC129997198, LOC129997199, LOC129997200, LOC129997201, LOC129997202, LOC129997203, LOC129997204, LOC129997205, LOC129997206, LOC129997207, LOC129997208, LOC129997209, LOC129997210, LOC129997211, LOC129997212, LOC129997213, LOC129997214, LOC129997215, LOC129997216, LOC129997217, LOC129997218, LOC129997219, LOC129997220, LOC129997221, LOC129997222, LOC129997223, LOC129997224, LOC129997225, LOC129997226, LOC129997227, LOC129997228, LOC129997229, LOC129997230, LOC129997231, LOC129997232, LOC129997233, LOC129997234, LOC129997235, LOC129997236, LOC129997237, LOC129997238, LOC129997239, LOC129997240, LOC129997241, LOC129997242, LOC129997243, LOC129997244, LOC129997245, LOC129997246, LOC129997247, LOC129997248, LOC129997249, LOC129997250, LOC129997251, LOC129997252, LOC129997253, LOC129997254, LOC129997255, LOC129997256, LOC129997257, LOC129997258, LOC129997259, LOC129997260, LOC129997261, LOC129997262, LOC129997263, LOC129997264, LOC129997265, LOC129997266, LOC129997267, LOC129997268, LOC129997269, LOC129997270, LOC129997271, LOC129997272, LOC129997273, LOC129997274, LOC129997275, LOC129997276, LOC129997277, LOC129997278, LOC129997279, LOC129997280, LOC129997281, LOC129997282, LOC129997283, LOC129997284, LOC129997285, LOC129997286, LOC129997287, LOC129997288, LOC129997289, LOC129997290, LOC129997291, LOC129997292, LOC129997293, LOC129997294, LOC129997295, LOC129997296, LOC129997297, LOC129997298, LOC129997299, LOC129997300, LOC129997301, LOC129997302, LOC129997303, LOC129997304, LOC129997305, LOC129997306, LOC129997307, LOC129997308, LOC129997309, LOC129997310, LOC129997311, LOC129997312, LOC129997313, LOC129997314, LOC129997315, LOC132089305, LOC132089306, LOC132089307, LOC132089308, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132089334, LOC132089335, LOC132089336, LOC132089337, LOC132089338, LOC132089339, LOC132089340, LOC132089341, LOC132089342, LOC132089343, LOC132089344, LOC132089345, LOC132089346, LOC132089347, LOC132089348, LOC132089349, LOC132089350, LOC132089351, LOC132089352, LOC132089353, LOC132089354, LOC132089355, LOC132089356, LOC132089357, LOC132089358, LOC132089359, LOC132089360, LOC132089361, LOC132089362, LOC132089363, LOC132089364, LOC132089365, LOC132089366, LOC132089367, LOC132089368, LOC132089369, LOC132089370, LOC132089460, LOC132089461, LOC132089462, LOC132089463, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132089501, LOC132089502, LOC132089503, LOC132090762, LOC132090763, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC132090768, LOC132090769, LOC132090770, LOC132205965, LOC285762, LYRM2, MAN1A1, MANEA, MANEA-DT, MAP3K5, MAP3K5-AS1, MAP3K5-AS2, MAP3K7, MAP7, MAP7-AS1, MARCKS, MCHR2, MCHR2-AS1, MCM9, MDN1, MDN1-AS1, ME1, MED23, MEI4, METTL24, MFSD4B, MICAL1, MIR10524, MIR2113, MIR3144, MIR3145, MIR3662, MIR3668, MIR4463, MIR4464, MIR4465, MIR4643, MIR548A2, MIR548AI, MIR548AJ1, MIR548B, MIR548H5, MIR587, MIR588, MMS22L, MOXD1, MRAP2, MROCKI, MTCL3, MTFR2, ABRACL, AFG1L, AHI1, AHI1-DT, AK9, AKAP7, AKIRIN2, ALDH8A1, AMD1, ANKRD6, ARFGEF3, ARG1, ARHGAP18, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BACH2, BCKDHB, BCLAF1, BEND3, BVES, BVES-AS1, C6orf163, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CASC6, CASP8AP2, CCDC28A, CCDC28A-AS1, CCN2, CCN2-AS1, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CENPW, CEP162, CEP57L1, CEP85L, CFAP206, CGA, CITED2, CLVS2, CNR1, COL10A1, COL12A1, COQ3, COX7A2, CRE2, CRYBG1, CT69, CTAGE9, CYB5R4, DCBLD1, DDO, DOP1A, DSE, ECHDC1, ECT2L, ELOVL4, ENPP1, ENPP3, EPB41L2, EPHA7, EYA4, FABP7, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FILIP1, FILNC1, FOXO3, FRK, FUT9, FYN, GABRR1, GABRR2, GJA1, GJA10, GJB7, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HBS1L, HDAC2, HDAC2-AS2, HDDC2, HEBP2, HECA, HEY2, HEY2-AS1, HINT3, HMGN3, HMGN3-AS1, HS3ST5, HSF2, HTR1B, HTR1E, IBTK, IFNGR1, IL20RA, IL22RA2, IMPG1, IRAK1BP1, KIAA0408, KLHL32, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LCA5, LCAL1, LIN28B, LIN28B-AS1, LINC00222, LINC00326, LINC01010, LINC01013, LINC01312, LINC01526, LINC01590, LINC01611, LINC01621, LINC01625, LINC02518, LINC02523, LINC02524, LINC02526, LINC02527, LINC02531, LINC02532, LINC02534, LINC02535, LINC02539, LINC02540, LINC02541, LINC02542, LINC02836, LINC02865, LINC02880, LINC02941, LINC03002, LINC03004, LNCPOIR, LOC100126584, LOC100287467, LOC101927314, LOC101927919, LOC101928373, LOC101928516, LOC101928540, LOC101928911, LOC101928936, LOC102723341, LOC102723690, LOC102724646, LOC103352541, LOC105377858, LOC105377862, LOC105377879, LOC105377924, LOC105377967, LOC105377975, LOC108169207, LOC108228196, LOC108281144, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121073, LOC110121109, LOC110121145, LOC110121174, LOC110121188, LOC110121195, LOC110121249, LOC110121273, LOC110121301, LOC111365199, LOC111365204, LOC111413030, LOC111413038, LOC111413040, LOC111429613, LOC111589214, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC113146414, LOC113146415, LOC113146417, LOC113146418, LOC113175019, LOC113175020, LOC114803478, LOC116183065, LOC116183066, LOC116183067, LOC116183068, LOC116183069, LOC116183070, LOC116183071, LOC116183072, LOC116183073, LOC116183074, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121132708, LOC121740657, LOC121740658, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, LOC121740667, LOC123775374, LOC123775375, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, MTRES1, MYB, MYO6, NCOA7, NCOA7-AS1, NDUFAF4, NHEG1, NHSL1, NHSL1-AS1, NKAIN2, NR2E1, NT5DC1, NT5E, NUS1, OLIG3, OR2A4, ORC3, OSTM1, OSTM1-AS1, PBOV1, PDE7B, PDE7B-AS1, PDSS2, PERP, PEX7, PGM3, PHIP, PKIB, PLN, PM20D2, PNISR, PNISR-AS1, PNKY, PNRC1, PNRC1-DT, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, PRSS35, PTPRK, PTPRK-AS1, QRSL1, RARS2, REPS1, REV3L, RFPL4B, RFX6, RIPPLY2, RIPPLY2-CYB5R4, RNF146, RNF217, RNF217-AS1, RNGTT, ROS1, RPF2, RPS12, RRAGD, RSPH4A, RSPO3, RTN4IP1, RWDD1, RWDD2A, SAMD3, SCML4, SEC63, SENP6, SERINC1, SESN1, SGK1, SH3BGRL2, SIM1, SIM1-AS1, SIMALR, SLC16A10, SLC18B1, SLC22A16, SLC2A12, SLC35A1, SLC35D3, SLC35F1, SMIM28, SMIM8, SMLR1, SMPD2, SMPDL3A, SNAP91, SNHG5, SNORA33, SNORA40C, SNORD100, SNORD101, SNORD156, SNORD166, SNORD50A, SNORD50B, SNX14, SNX3, SOBP, SOGA3-KIAA0408, SPACA1, SRSF12, STX7, SYNCRIP, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TBPL1, TBX18, TBX18-AS1, TCF21, TENT5A, THEMIS, TMEM200A, TMEM244, TMEM30A, TMEM30A-DT, TNFAIP3, TPBG, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSG1, TSPYL1, TSPYL4, TSTD3, TTK, TUBE1, TXLNB, UBE2J1, UBE3D, UFL1, UFL1-AS1, USP45, VGLL2, VNN1, VNN2, VNN3, WAKMAR2, WASF1, ZBTB24, ZBTB24-DT, ZNF292, ZUP1
See casesPathogenic
(Jul 5, 2011)
no assertion criteria provided
2.
GRCh37:
Chr6:97057870-122482694
GRCh38:
Chr6:96609994-122161548
LOC129389591, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129996853, LOC129996854, LOC129996855, LOC129996856, LOC129996857, LOC129996858, LOC129996859, LOC129996860, LOC129996861, LOC129996862, LOC129996863, LOC129996864, LOC129996865, LOC129996866, LOC129996867, LOC129996868, LOC129996869, LOC129996870, LOC129996871, LOC129996872, LOC129996873, LOC129996874, LOC129996875, LOC129996876, LOC129996877, LOC129996878, LOC129996879, LOC129996880, LOC129996881, LOC129996882, LOC129996883, LOC129996884, LOC129996885, LOC129996886, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075, LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC129997089, LOC129997090, LOC132089305, LOC132089306, LOC132089307, LOC132089308, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC285762, MAN1A1, MARCKS, MCHR2, MCHR2-AS1, MCM9, METTL24, MFSD4B, MICAL1, MIR2113, MIR3144, MIR548AI, MIR548B, MIR587, MMS22L, MROCKI, MTRES1, NDUFAF4, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PLN, PNISR, PNISR-AS1, PNKY, POPDC3, POU3F2, PPIL6, PRDM1, PRDM13, PREP, QRSL1, REV3L, RFPL4B, RFX6, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SIM1, SIM1-AS1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TBC1D32, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TSTD3, TUBE1, USP45, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1, AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CCNC, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, COL10A1, COQ3, CRE2, CRYBG1, DCBLD1, DDO, DSE, FAM162B, FAM184A, FAM229B, FAXC, FBXL4, FHL5, FIG4, FOXO3, FRK, FYN, GJA1, GOPC, GPR6, GPR63, GPRC6A, GRIK2, GTF3C6, HACE1, HDAC2, HDAC2-AS2, HS3ST5, KLHL32, KPNA5, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02836, LINC02880, LNCPOIR, LOC100287467, LOC101927314, LOC101927919, LOC102724646, LOC105377924, LOC105377967, LOC105377975, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120709, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121046, LOC110121109, LOC110121145, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC111365204, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121132705, LOC121740659, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775388, LOC123775389, LOC123775390, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC126859748, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC127407129, LOC128559983, LOC128667231, LOC129389586, LOC129389587, LOC129389588, LOC129389589, LOC129389590
See casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
3.
GRCh37:
Chr6:100502765-120809300
GRCh38:
Chr6:100054889-120488154
LOC129997076, LOC129997077, LOC129997078, LOC129997079, LOC129997080, LOC129997081, LOC129997082, LOC129997083, LOC129997084, LOC129997085, LOC129997086, LOC129997087, LOC129997088, LOC132089305, LOC132089306, LOC132089307, LOC132089308, LOC132089309, LOC132089310, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC285762, MAN1A1, MARCKS, MCHR2-AS1, MCM9, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR587, MROCKI, MTRES1, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PLN, POPDC3, PPIL6, PRDM1, PREP, QRSL1, REV3L, RFPL4B, RFX6, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SESN1, SIM1, SIM1-AS1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1, AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASCC3, ASF1A, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, COL10A1, CRYBG1, DCBLD1, DDO, DSE, FAM162B, FAM184A, FAM229B, FIG4, FOXO3, FRK, FYN, GOPC, GPR6, GPRC6A, GRIK2, GTF3C6, HACE1, HDAC2, HDAC2-AS2, HS3ST5, KPNA5, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02836, LINC02880, LNCPOIR, LOC100287467, LOC101927919, LOC102724646, LOC105377924, LOC105377967, LOC105377975, LOC110120709, LOC110121046, LOC110121109, LOC110121188, LOC110121195, LOC110121273, LOC110121301, LOC113121299, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132701, LOC121132702, LOC121132703, LOC121132704, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC123775391, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC126859749, LOC126859750, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC127407129, LOC128559983, LOC128667231, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129996883, LOC129996884, LOC129996885, LOC129996886, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC129997025, LOC129997026, LOC129997027, LOC129997028, LOC129997029, LOC129997030, LOC129997031, LOC129997032, LOC129997033, LOC129997034, LOC129997035, LOC129997036, LOC129997037, LOC129997038, LOC129997039, LOC129997040, LOC129997041, LOC129997042, LOC129997043, LOC129997044, LOC129997045, LOC129997046, LOC129997047, LOC129997048, LOC129997049, LOC129997050, LOC129997051, LOC129997052, LOC129997053, LOC129997054, LOC129997055, LOC129997056, LOC129997057, LOC129997058, LOC129997059, LOC129997060, LOC129997061, LOC129997062, LOC129997063, LOC129997064, LOC129997065, LOC129997066, LOC129997067, LOC129997068, LOC129997069, LOC129997070, LOC129997071, LOC129997072, LOC129997073, LOC129997074, LOC129997075
See casesPathogenic
(Mar 4, 2013)
no assertion criteria provided
4.
GRCh37:
Chr6:102804377-111371082
GRCh38:
Chr6:102356502-111049879
LINC00222, LINC02526, LINC02532, LINC02836, LOC105377924, LOC110121109, LOC113121300, LOC113121301, LOC113121302, LOC121132702, LOC121132703, LOC121740660, LOC121740661, LOC121740662, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC128559983, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC132089308, METTL24, MICAL1, MIR587, MTRES1, NR2E1, OSTM1, OSTM1-AS1, PDSS2, POPDC3, PPIL6, PRDM1, PREP, QRSL1, RPF2, RTN4IP1, SCML4, SEC63, SESN1, SLC22A16, SMPD2, SNORA40C, SNX3, SOBP, WASF1, ZBTB24, ZBTB24-DT, AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CD164, CD24, CDC40, CDK19, CEP57L1, CRYBG1, DDO, FIG4, FOXO3, GPR6, GTF3C6, HACE1, LIN28B, LIN28B-AS1
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr6:103727340-114255403
GRCh38:
Chr6:103279465-113934239
AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ATG5, BEND3, BVES, BVES-AS1, C6orf183, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CRYBG1, DDO, FAM229B, FIG4, FOXO3, FYN, GPR6, GTF3C6, HACE1, HDAC2, LAMA4, LAMA4-AS1, LIN28B, LIN28B-AS1, LINC00222, LINC02518, LINC02526, LINC02527, LINC02532, LINC02541, LINC02836, LINC02880, LOC102724646, LOC105377924, LOC110121046, LOC110121109, LOC110121188, LOC113121300, LOC113121301, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC121132702, LOC121132703, LOC121740660, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC123775392, LOC123775393, LOC123775394, LOC123775395, LOC123775396, LOC123775397, LOC123775398, LOC123775399, LOC123775400, LOC123775401, LOC123775402, LOC123775403, LOC123775404, LOC123775405, LOC123833521, LOC123833522, LOC123833523, LOC123833524, LOC123833525, LOC126859751, LOC126859752, LOC126859753, LOC126859754, LOC126859755, LOC126859756, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC128559983, LOC129389592, LOC129389593, LOC129389594, LOC129389595, LOC129389596, LOC129389597, LOC129389598, LOC129389599, LOC129389600, LOC129389601, LOC129389602, LOC129389603, LOC129389604, LOC129389605, LOC129389606, LOC129389607, LOC129389608, LOC129389609, LOC129389610, LOC129389611, LOC129389612, LOC129389613, LOC129389614, LOC129389615, LOC129389616, LOC129389617, LOC129389618, LOC129389619, LOC129389620, LOC129996887, LOC129996888, LOC129996889, LOC129996890, LOC129996891, LOC129996892, LOC129996893, LOC129996894, LOC129996895, LOC129996896, LOC129996897, LOC129996898, LOC129996899, LOC129996900, LOC129996901, LOC129996902, LOC129996903, LOC129996904, LOC129996905, LOC129996906, LOC129996907, LOC129996908, LOC129996909, LOC129996910, LOC129996911, LOC129996912, LOC129996913, LOC129996914, LOC129996915, LOC129996916, LOC129996917, LOC129996918, LOC129996919, LOC129996920, LOC129996921, LOC129996922, LOC129996923, LOC129996924, LOC129996925, LOC129996926, LOC129996927, LOC129996928, LOC129996929, LOC129996930, LOC129996931, LOC129996932, LOC129996933, LOC129996934, LOC129996935, LOC129996936, LOC129996937, LOC129996938, LOC129996939, LOC129996940, LOC129996941, LOC129996942, LOC129996943, LOC129996944, LOC129996945, LOC129996946, LOC129996947, LOC129996948, LOC129996949, LOC129996950, LOC129996951, LOC129996952, LOC129996953, LOC129996954, LOC129996955, LOC129996956, LOC129996957, LOC129996958, LOC129996959, LOC129996960, LOC129996961, LOC129996962, LOC129996963, LOC129996964, LOC129996965, LOC129996966, LOC129996967, LOC129996968, LOC129996969, LOC129996970, LOC129996971, LOC129996972, LOC129996973, LOC129996974, LOC129996975, LOC129996976, LOC129996977, LOC129996978, LOC129996979, LOC129996980, LOC129996981, LOC129996982, LOC129996983, LOC129996984, LOC129996985, LOC129996986, LOC129996987, LOC129996988, LOC129996989, LOC129996990, LOC129996991, LOC129996992, LOC129996993, LOC129996994, LOC129996995, LOC129996996, LOC129996997, LOC129996998, LOC129996999, LOC129997000, LOC129997001, LOC129997002, LOC129997003, LOC129997004, LOC129997005, LOC129997006, LOC129997007, LOC129997008, LOC129997009, LOC129997010, LOC129997011, LOC129997012, LOC129997013, LOC129997014, LOC129997015, LOC129997016, LOC129997017, LOC129997018, LOC129997019, LOC129997020, LOC129997021, LOC129997022, LOC129997023, LOC129997024, LOC132089308, LOC132089309, LOC132089310, MARCKS, METTL24, MFSD4B, MICAL1, MIR587, MROCKI, MTRES1, NR2E1, OSTM1, OSTM1-AS1, PDSS2, POPDC3, PPIL6, PRDM1, PREP, QRSL1, REV3L, RFPL4B, RPF2, RTN4IP1, SCML4, SEC63, SESN1, SLC16A10, SLC22A16, SMPD2, SNORA40C, SNORD166, SNX3, SOBP, TRAF3IP2, TRAF3IP2-AS1, TUBE1, WASF1, ZBTB24, ZBTB24-DT
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
6.
GRCh37:
Chr6:105548720
GRCh38:
Chr6:105100845
BVESnot providedLikely benign
(Sep 18, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:105548850
GRCh38:
Chr6:105100975
BVESAutosomal recessive limb-girdle muscular dystrophy type 2X, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr6:105548974
GRCh38:
Chr6:105101099
BVESQ358RAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Oct 10, 2019)
criteria provided, single submitter
9.
GRCh37:
Chr6:105549014
GRCh38:
Chr6:105101139
BVESV345IAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jul 8, 2019)
criteria provided, single submitter
10.
GRCh37:
Chr6:105549046
GRCh38:
Chr6:105101171
BVESP334QInborn genetic diseasesUncertain significance
(Jul 11, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr6:105563551
GRCh38:
Chr6:105115676
BVESnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr6:105563580-105563581
GRCh38:
Chr6:105115705-105115706
BVESS314fsAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Mar 1, 2019)
criteria provided, single submitter
13.
GRCh37:
Chr6:105563581
GRCh38:
Chr6:105115706
BVEST313IAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Mar 16, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr6:105563587
GRCh38:
Chr6:105115712
BVESR311QAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(May 3, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr6:105563588
GRCh38:
Chr6:105115713
BVESR311WAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Oct 22, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr6:105563609
GRCh38:
Chr6:105115734
BVESD304NInborn genetic diseases, Autosomal recessive limb-girdle muscular dystrophy type 2X, not provided
Uncertain significance
(Dec 19, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr6:105563643
GRCh38:
Chr6:105115768
BVESM292IAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jun 6, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr6:105563674
GRCh38:
Chr6:105115799
BVESS282NBVES-related conditionUncertain significance
(Oct 10, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr6:105563677
GRCh38:
Chr6:105115802
BVESL281Pnot providedBenign/Likely benign
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:105563678
GRCh38:
Chr6:105115803
BVESL281VAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Dec 24, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr6:105563683
GRCh38:
Chr6:105115808
BVESH279Rnot provided, Autosomal recessive limb-girdle muscular dystrophy type 2X, Inborn genetic diseases
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:105563884
GRCh38:
Chr6:105116009
BVESnot providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr6:105563890
GRCh38:
Chr6:105116015
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr6:105564307-105564308
GRCh38:
Chr6:105116432-105116433
BVESnot providedLikely benign
(Sep 29, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr6:105564574
GRCh38:
Chr6:105116699
BVESAutosomal recessive limb-girdle muscular dystrophy type 2XPathogenic
(Aug 25, 2022)
no assertion criteria provided
26.
GRCh37:
Chr6:105564585
GRCh38:
Chr6:105116710
BVESL269FAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Nov 6, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr6:105564621
GRCh38:
Chr6:105116746
BVESI257MAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jun 26, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr6:105564634
GRCh38:
Chr6:105116759
BVESI253TAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Sep 9, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr6:105564640
GRCh38:
Chr6:105116765
BVESY251Cnot providedUncertain significance
(Apr 11, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr6:105564658-105564661
GRCh38:
Chr6:105116783-105116786
BVESF244fsnot providedLikely pathogenic
(Nov 8, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr6:105564684
GRCh38:
Chr6:105116809
BVESAutosomal recessive limb-girdle muscular dystrophy type 2X, not providedBenign/Likely benign
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr6:105572099
GRCh38:
Chr6:105124224
BVESnot providedBenign
(Jul 26, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr6:105572112
GRCh38:
Chr6:105124237
BVESnot providedLikely benign
(Sep 18, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr6:105572260-105572261
GRCh38:
Chr6:105124385-105124386
BVESnot providedLikely benign
(Sep 24, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr6:105572261-105572263
GRCh38:
Chr6:105124386-105124388
BVESnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr6:105572261-105572262
GRCh38:
Chr6:105124386-105124387
BVESnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr6:105572261
GRCh38:
Chr6:105124386
BVESnot providedLikely benign
(Aug 13, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr6:105572307
GRCh38:
Chr6:105124432
BVESnot providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr6:105572468
GRCh38:
Chr6:105124593
BVESS201Cnot providedLikely pathogenic
(Jul 8, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr6:105572468
GRCh38:
Chr6:105124593
BVESS201FAutosomal recessive limb-girdle muscular dystrophy type 2XLikely pathogenic
(Aug 5, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr6:105572492
GRCh38:
Chr6:105124617
BVESI193SAutosomal recessive limb-girdle muscular dystrophy type 2XPathogenic
(Aug 25, 2022)
no assertion criteria provided
42.
GRCh37:
Chr6:105572496
GRCh38:
Chr6:105124621
BVESN192DAutosomal recessive limb-girdle muscular dystrophy type 2X, not providedConflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr6:105572498
GRCh38:
Chr6:105124623
BVESH191RAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jul 30, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr6:105572501
GRCh38:
Chr6:105124626
BVESL190PAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Dec 10, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr6:105572808
GRCh38:
Chr6:105124933
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr6:105573104
GRCh38:
Chr6:105125229
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr6:105573284
GRCh38:
Chr6:105125409
BVESS174TInborn genetic diseasesUncertain significance
(May 17, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr6:105573286-105573287
GRCh38:
Chr6:105125411-105125412
BVESS174fsAutosomal recessive limb-girdle muscular dystrophy type 2XLikely pathogenic
(Oct 4, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:105573290
GRCh38:
Chr6:105125415
BVESR172HAutosomal recessive limb-girdle muscular dystrophy type 2X, Inborn genetic diseasesUncertain significance
(Feb 10, 2023)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr6:105573334
GRCh38:
Chr6:105125459
BVESK157NAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(May 3, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr6:105573338
GRCh38:
Chr6:105125463
BVESK156RAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Sep 6, 2019)
criteria provided, single submitter
52.
GRCh37:
Chr6:105573348
GRCh38:
Chr6:105125473
BVESQ153*not providedLikely pathogenic
(Jul 1, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr6:105573377
GRCh38:
Chr6:105125502
BVESR143IInborn genetic diseasesUncertain significance
(Aug 26, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:105573378
GRCh38:
Chr6:105125503
BVESR143*not providedLikely pathogenic
(Oct 15, 2020)
criteria provided, single submitter
55.
GRCh37:
Chr6:105573387
GRCh38:
Chr6:105125512
BVESD140HInborn genetic diseasesUncertain significance
(Apr 13, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:105573398
GRCh38:
Chr6:105125523
BVESR136Hnot providedBenign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr6:105573419
GRCh38:
Chr6:105125544
BVESR129QAutosomal recessive limb-girdle muscular dystrophy type 2X, Inborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr6:105573420
GRCh38:
Chr6:105125545
BVESR129Wnot providedBenign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:105573424
GRCh38:
Chr6:105125549
BVESM127Inot providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr6:105573741
GRCh38:
Chr6:105125866
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr6:105576948
GRCh38:
Chr6:105129073
BVESnot providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr6:105576954
GRCh38:
Chr6:105129079
BVESnot providedBenign
(Jul 31, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr6:105577104
GRCh38:
Chr6:105129229
BVESnot providedLikely benign
(Sep 29, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr6:105577111
GRCh38:
Chr6:105129236
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr6:105577172
GRCh38:
Chr6:105129297
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr6:105577199
GRCh38:
Chr6:105129324
BVESnot providedBenign
(Jul 27, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr6:105577224
GRCh38:
Chr6:105129349
BVESAutosomal recessive limb-girdle muscular dystrophy type 2X, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:105577254
GRCh38:
Chr6:105129379
BVESnot providedUncertain significance
(Jul 7, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr6:105577342
GRCh38:
Chr6:105129467
BVESR88QAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jun 24, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr6:105577343
GRCh38:
Chr6:105129468
BVESR88*not provided, Limb-girdle muscular dystrophyPathogenic/Likely pathogenic
(Jan 9, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr6:105577361
GRCh38:
Chr6:105129486
BVESV82IAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jul 17, 2019)
criteria provided, single submitter
72.
GRCh37:
Chr6:105577401
GRCh38:
Chr6:105129526
BVESAutosomal recessive limb-girdle muscular dystrophy type 2X, not providedBenign
(Jul 14, 2021)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr6:105577686
GRCh38:
Chr6:105129811
BVESnot providedBenign
(Jul 6, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr6:105581254
GRCh38:
Chr6:105133379
BVESI67VAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(May 28, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr6:105581269
GRCh38:
Chr6:105133394
BVESL62VAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Dec 24, 2019)
criteria provided, single submitter
76.
GRCh37:
Chr6:105581349
GRCh38:
Chr6:105133474
BVESE35GInborn genetic diseasesUncertain significance
(Dec 28, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr6:105581379
GRCh38:
Chr6:105133504
BVESI25TAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Aug 19, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr6:105581389
GRCh38:
Chr6:105133514
BVESE22QAutosomal recessive limb-girdle muscular dystrophy type 2XUncertain significance
(Jun 3, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr6:105581410
GRCh38:
Chr6:105133535
BVESI15Vnot providedBenign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr6:105581431
GRCh38:
Chr6:105133556
BVESP8SInborn genetic diseasesUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr6:105581444
GRCh38:
Chr6:105133569
BVESnot providedBenign/Likely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr6:105581452
GRCh38:
Chr6:105133577
BVESM1VAutosomal recessive limb-girdle muscular dystrophy type 2XPathogenic
(Aug 25, 2022)
no assertion criteria provided
83.
GRCh37:
Chr6:105581468
GRCh38:
Chr6:105133593
BVESnot providedBenign
(Aug 8, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr6:105581472-105581473
GRCh38:
Chr6:105133597-105133598
BVESnot providedLikely benign
(Aug 25, 2020)
criteria provided, single submitter
85.
GRCh37:
Chr6:105581473
GRCh38:
Chr6:105133598
BVESnot providedBenign
(Aug 13, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr6:105581653
GRCh38:
Chr6:105133778
BVESnot providedLikely benign
(Feb 7, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr6:105581771
GRCh38:
Chr6:105133896
BVESnot providedBenign
(Jul 31, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr6:105551316-105870467
BVES, POPDC3, PREPnot providedUncertain significance
(Apr 16, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:96596732-105554568
not providedPathogenic
(Dec 29, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr6:96946110-106497526
not providedPathogenic
(Dec 7, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr6:105550491-107378236
ATG5, BVES, CRYBG1, MTRES1, POPDC3, PRDM1, PREP, QRSL1, RTN4IP1not specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:105406897-105573285
BVES, LIN28Bnot specifiedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:92054891-118329651
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:85988428-120548687
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:98949950-114533905
Deletion 6q16 q21Pathogenicno assertion criteria provided
96.
GRCh37:
Chr6:101287058-117013245
Microcephaly, Intellectual disabilityPathogenic
(Apr 8, 2020)
no assertion criteria provided
97.
GRCh37:
Chr6:105538029-105659133
BVES, POPDC3not providedUncertain significance
(Dec 29, 2017)
no assertion criteria provided
98.
GRCh37:
Chr6:165632-170919470
AARS2, ABCC10, ACAT2, ABCF1, ABHD16A, ABRACL, ABT1, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRG6, ADTRP, AFDN, AFG1L, AGER, AGPAT1, AGPAT4, AHI1, AIF1, AIG1, AIRN, AK9, AKAP12, AKAP7, AKIRIN2, ALDH5A1, ALDH8A1, AMD1, ANKRD6, ANKRD66, ANKS1A, APOBEC2, APOM, ARFGEF3, ARG1, ARHGAP18, ARID1B, ARMC12, ARMC2, ARMT1, ASCC3, ASF1A, ATAT1, ATF6B, ATG5, BAG2, ATP6V1G2, ATXN1, B3GALT4, B3GAT2, BACH2, BAG6, BAK1, BCKDHB, BCLAF1, BEND3, BEND6, BICRAL, BLOC1S5, BLTP3A, BMP5, BMP6, BNIP5, BPHL, BRD2, BRPF3, BTBD9, BTN1A1, BTN2A1, BTN2A2, BTN3A1, BTN3A2, BTN3A3, BTNL2, BVES, BYSL, C2, C4A, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD109, CD164, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYB5R4, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCBLD1, DCDC2, DDAH2, DDO, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GCM2, GABBR1, GABRR1, GABRR2, GCLC, GCM1, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GPSM3, GPX5, GPX6, GRIK2, GRM1, GRM4, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14, H2BC15, H2BC17, H2BC3, H2BC4, H2BC5, H2BC6, H2BC7, H2BC8, H2BC9, H3C1, H3C10, H3C11, H3C12, H3C2, H3C3, H3C4, H3C6, H3C7, H3C8, H4C1, H4C11, H4C12, H4C13, H4C2, H4C3, H4C4, H4C5, H4C6, H4C7, H4C8, H4C9, HACE1, HBS1L, HECA, HCG17, HCG22, HCG26, HCP5, HCRTR2, HDAC2, HDDC2, HDGFL1, HEBP2, HEY2, HFE, HINT3, HIVEP1, HIVEP2, HLA-A, HLA-B, HLA-C, HLA-DMA, HLA-DMB, HLA-DOA, HLA-DOB, HLA-DPA1, HLA-DPB1, HLA-DQA1, HLA-DQA2, HLA-DQB1, HLA-DQB2, HLA-DRA, HLA-DRB1, HLA-DRB5, HLA-E, HLA-F, HS3ST5, HLA-G, HMGA1, HMGCLL1, HMGN3, HMGN4, HSD17B8, HSF2, HSP90AB1, HSPA1A, HSPA1B, HSPA1L, HTR1B, HTR1E, HULC, HUS1B, HYMAI, IBTK, ID4, IER3, IFNGR1, IGF2R, IL17A, IL17F, IL20RA, IL22RA2, ILRUN, IMPG1, IP6K3, IPCEF1, IRAK1BP1, IRF4, ITPR3, IYD, JARID2, KAAG1, KATNA1, KCNK16, KCNK17, KCNK5, KCNQ5, KCTD20, KDM1B, KHDC1, KHDC1L, KHDC3L, KHDRBS2, KIAA0319, KIAA0408, KIAA1586, KIF13A, KIF25, KIF6, KIFC1, KLC4, KLHDC3, KLHL31, KLHL32, KPNA5, KU-MEL-3, L3MBTL3, LAMA2, LAMA4, LATS1, LCA5, LEMD2, LGSN, LHFPL5, LIN28B, LINC00951, LINC01600, LINC01621, LINC02487, LINC02539, LINC02901, LINC03040, LMBRD1, LOC101926915, LOC101927189, LOC729681, LPA, LRFN2, LRP11, LRRC1, LRRC73, MANEA, LSM2, LST1, LTA, LTB, LTV1, LY6G5B, MAN1A1, LY6G5C, LY6G6C, LY6G6D, LY6G6F, LY86, LYRM2, LYRM4, MAD2L1BP, MAK, MAP3K4, MAP3K5, MAP3K7, MAP7, MAPK13, MAPK14, MARCKS, MAS1, MAS1L, MBOAT1, MEA1, MCCD1, MCHR2, MCM3, MCM9, MCUR1, MDC1, MDFI, MDGA1, MDN1, ME1, MED20, MED23, MEP1A, METTL24, MFSD4B, MICA, MICAL1, MICB, MIR133B, MIR206, MMS22L, MIR219A1, MIR30A, MIR877, MLIP, MLN, MMUT, MOCS1, MOG, MOXD1, MPC1, MPIG6B, MRAP2, MRPL14, MRPL18, MRPL2, MRPS10, MRPS18A, MRPS18B, MRS2, MTO1, MSH5, MTCH1, MTCL3, MTFR2, MTHFD1L, MTRES1, MTRF1L, MUC21, MUC22, MUCL3, MYB, MYCT1, MYLIP, MYLK4, MYO6, NCOA7, NCR2, NCR3, NDUFAF4, NEDD9, NELFE, NEU1, NFKBIE, NFKBIL1, NFYA, NHLRC1, NHSL1, NKAIN2, NKAPL, NMBR, NOL7, NOTCH4, NOX3, NQO2, NR2E1, NRM, NRN1, NRSN1, NT5DC1, NT5E, NUDT3, NUP153, NUP43, NUS1, OARD1, OFCC1, OGFRL1, OLIG3, OOEP, OPN5, OPRM1, OR10C1, OR11A1, OR12D2, OR12D3, OR14J1, OR2A4, OR2B2, OR2B3, OR2B6, OR2H1, OR2H2, PAQR8, OR2J2, OR2J3, OR2W1, OR5V1, ORC3, OSTM1, PACRG, PACSIN1, PAK1IP1, PBOV1, PBX2, PCMT1, PDCD2, PDE10A, PDE7B, PDSS2, PERP, PEX3, PEX6, PEX7, PFDN6, PGBD1, PGC, PGK2, PGM3, PHACTR1, PHACTR2, PHF1, PHF10, PHF3, PHIP, PI16, PIM1, PKHD1, PKIB, PLA2G7, PLAGL1, PLEKHG1, PLG, PLN, PM20D2, PNISR, PNLDC1, PNPLA1, PNRC1, POLH, POLR1C, POLR1H, POM121L2, POPDC3, POU3F2, POU5F1, PPARD, PPIL1, PPIL4, PPIL6, PPP1R10, PRICKLE4, PPP1R11, PPP1R14C, PPP1R18, PPP1R3G, PPP2R5D, PPT2, PRDM1, PRDM13, PREP, PRKN, PRL, PRPF4B, PRPH2, PRR18, PRR3, PRRC2A, PRRT1, PRSS16, PRSS35, PSMB1, PSMB8, PSMB9, PSMG4, PSORS1C1, PSORS1C2, PTCHD4, PTCRA, PTK7, PTP4A1, PTPRK, PXDC1, PXT1, QKI, QRSL1, RAB23, RAB32, RAB44, RAET1E, RAET1G, RAET1L, RANBP9, RARS2, RBM24, RCAN2, REPS1, REV3L, RFPL4B, RFX6, RGL2, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RIPOR2, RIPPLY2, RMND1, RN7SK, RNASET2, RNF144B, RNF146, RNF182, RNF217, RNF217-AS1, RNF39, RPL10A, RNF5, RNF8, RNGTT, ROS1, RPF2, RPL7L1, RPP21, RPP40, RPS10, RPS12, RPS18, RPS6KA2, RRAGD, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RUNX2, RWDD1, RWDD2A, RXRB, SAMD3, SAMD5, SAPCD1, SASH1, SAYSD1, SCAF8, SCAND3, SCGN, SCML4, SCUBE3, SDHAF4, SDIM1, SEC63, SENP6, SERAC1, SERINC1, SERPINB1, SERPINB6, SERPINB9, SESN1, SF3B5, SFT2D1, SFTA2, SGK1, SH3BGRL2, SHPRH, SIM1, SIRT5, SKIC2, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC2A12, SLC35A1, SLC35B2, SLC35B3, SLC35D3, SLC35F1, SLC39A7, SLC44A4, SMAP1, SMIM13, SMIM29, SMIM8, SMLR1, SMOC2, SMPD2, SMPDL3A, SNAP91, SNHG32, SNHG5, SNORD50A, SNORD50B, SNRNP48, SNRPC, SNX14, SNX3, SNX9, SOBP, SOD2, SOX4, SPACA1, SPATS1, SPDEF, SRF, SRPK1, SRSF12, SRSF3, SSR1, STK19, STK38, STMND1, STX11, STX7, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNCRIP, SYNE1, SYNE1-AS1, SYNGAP1, SYNJ2, SYTL3, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TAB2, TAF11, TAF8, TAGAP, TAP1, TBCC, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBP, TBPL1, TBX18, TBXT, TCF19, TCF21, TCP1, TCP11, TCTE1, TDP2, TDRD6, TEAD3, TENT5A, TFAP2A, TFAP2B, TFAP2D, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM14A, TMEM14B, TMEM14C, TMEM151B, TMEM170B, TMEM181, TMEM200A, TMEM217, TMEM242, TMEM244, TMEM30A, TMEM63B, TNF, TNFAIP3, TNFRSF21, TNXB, TOMM6, TPBG, TPD52L1, TPMT, TRA-TGC7-1, TRAF3IP2, TRAF3IP2-AS1, TRAM2, TRAPPC3L, TRDN, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRR-TCG4-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM38, TRMT11, TRIM39, TRIM39-RPP21, TRIM40, TRS-AGA2-3, TRS-TGA2-1, TRS-TGA4-1, TRX-CAT1-2, TRX-CAT2-1, TTBK1, TSBP1, TSPO2, TSPYL1, TSPYL4, TSTD3, TTK, TTLL2, TUBB, TUBB2A, TUBB2B, TUBE1, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBE3D, UBR2, UFL1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, UQCC2, USP45, USP49, UST, UTRN, VARS1, VARS2, VEGFA, VGLL2, VIP, VNN1, VNN2, VNN3, ZC2HC1B, VPS52, VTA1, VWA7, WASF1, WDR27, WDR46, WRNIP1, WTAP, XPO5, YIPF3, ZBTB12, ZBTB2, ZBTB22, ZBTB24, ZBTB9, ZC3H12D, ZDHHC14, ZFAND3, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF184, ZNF292, ZNF76, ZNF311, ZNF318, ZNF322, ZNF391, ZNF451, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ZUP1
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
99.
GRCh37:
Chr6:108666-170980171
TRIM39, TRIM39-RPP21, REV3L, RFPL4B, RFX6, RGL2, RGS17, RHAG, RIMS1, RING1, RIOK1, RIPK1, RIPOR2, RIPPLY2, RMND1, RN7SK, RNASET2, RNF144B, RNF146, RNF182, RNF217, RNF217-AS1, RNF39, RNF5, RNF8, RNGTT, ROS1, RPF2, RPL10A, RPL7L1, RPP21, RPP40, RPS10, RPS12, RPS18, RPS6KA2, RRAGD, RREB1, RRP36, RSPH3, RSPH4A, RSPH9, RSPO3, RTN4IP1, RUNX2, RWDD1, RWDD2A, RXRB, SAMD3, SAMD5, SAPCD1, SASH1, SAYSD1, SCAF8, SCAND3, SCGN, SCML4, SCUBE3, SDHAF4, SDIM1, SEC63, SENP6, SERAC1, SERINC1, SERPINB1, SERPINB6, SERPINB9, SESN1, SF3B5, SFT2D1, SFTA2, SGK1, SH3BGRL2, SHPRH, SIM1, SIRT5, SKIC2, SLC16A10, SLC17A1, SLC17A2, SLC17A3, SLC17A4, SLC17A5, SLC18B1, SLC22A1, SLC22A16, SLC22A2, SLC22A23, SLC22A3, SLC22A7, SLC25A27, SLC26A8, SLC29A1, SLC2A12, SLC35A1, SLC35B2, SLC35B3, SLC35D3, SLC35F1, SLC39A7, SLC44A4, SMAP1, SMIM13, SMIM29, SMIM8, SMLR1, SMOC2, SMPD2, SMPDL3A, SNAP91, SNHG32, SNHG5, SNORD50A, SNORD50B, SNRNP48, SNRPC, SNX14, SNX3, SNX9, SOBP, SOD2, SOX4, SPACA1, SPATS1, SPDEF, SRF, SRPK1, SRSF12, SRSF3, SSR1, STK19, STK38, STMND1, STX11, STX7, STXBP5, SUMO4, SUPT3H, SYCP2L, SYNCRIP, SYNE1, SYNE1-AS1, SYNGAP1, SYNJ2, SYTL3, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TAB2, TAF11, TAF8, TAGAP, TAP1, TBCC, TAP2, TAPBP, TBC1D22B, TBC1D32, TBC1D7, TBP, TBPL1, TBX18, TBXT, TCF19, TCF21, TCP1, TCP11, TCTE1, TDP2, TDRD6, TEAD3, TENT5A, TFAP2A, TFAP2B, TFAP2D, TFB1M, TFEB, THBS2, THEMIS, TIAM2, TINAG, TJAP1, TMEM14A, TMEM14B, TMEM14C, TMEM151B, TMEM170B, TMEM181, TMEM200A, TMEM217, TMEM242, TMEM244, TMEM30A, TMEM63B, TNF, TNFAIP3, TNFRSF21, TNXB, TOMM6, TPBG, TPD52L1, TPMT, TRA-TGC7-1, TRAF3IP2, TRAF3IP2-AS1, TRAM2, TRAPPC3L, TRDN, TREM1, TREM2, TREML1, TREML2, TREML4, TRERF1, TRS-TGA4-1, TRIM10, TRIM15, TRIM26, TRIM27, TRIM31, TRIM38, TRX-CAT1-2, TRIM40, TRMT11, TRR-TCG4-1, TRS-AGA2-3, TRS-TGA2-1, TRX-CAT2-1, TSBP1, TSPO2, TSPYL1, TSPYL4, TSTD3, TTBK1, TTK, TTLL2, TUBB, TUBB2A, TUBB2B, TUBE1, TULP1, TULP4, TXLNB, UBD, UBE2J1, UBE3D, UBR2, UFL1, ULBP1, ULBP2, ULBP3, UNC5CL, UNC93A, UQCC2, USP45, USP49, UST, UTRN, VARS1, VARS2, VEGFA, VGLL2, VIP, VNN1, VNN2, VNN3, VPS52, VTA1, VWA7, WASF1, WDR27, WDR46, WRNIP1, WTAP, XPO5, YIPF3, ZBTB12, ZBTB2, ZBTB22, ZBTB24, ZBTB9, ZC2HC1B, ZC3H12D, ZDHHC14, ZFAND3, ZNF184, ZFP57, ZKSCAN3, ZKSCAN4, ZKSCAN8, ZNF165, ZNF292, ZNF311, ZNF318, ZNF322, ZNF391, ZNF451, ZNF76, ZSCAN12, ZSCAN16, ZSCAN23, ZSCAN26, ZSCAN31, ZSCAN9, ZUP1, AARS2, ABCC10, ABCF1, ABHD16A, ABRACL, ABT1, ACAT2, ACOT13, ADAT2, ADGB, ADGRB3, ADGRF1, ADGRF2, ADGRF4, ADGRF5, ADGRG6, ADTRP, AFDN, AFG1L, AGER, AGPAT1, AGPAT4, AHI1, AIF1, AIG1, AIRN, AK9, AKAP12, AKAP7, AKIRIN2, ALDH5A1, ALDH8A1, AMD1, ANKRD6, ANKRD66, ANKS1A, APOBEC2, ARMC12, APOM, ARFGEF3, ARG1, ARHGAP18, ARID1B, ARMC2, ARMT1, ASCC3, ASF1A, ATAT1, ATF6B, ATG5, ATP6V1G2, ATXN1, BAK1, B3GALT4, B3GAT2, BACH2, BAG2, BAG6, BCKDHB, BCLAF1, BEND3, BEND6, BICRAL, BLOC1S5, BLTP3A, BMP5, BMP6, BNIP5, BPHL, BTN2A2, BRD2, BRPF3, BTBD9, BTN1A1, BTN2A1, BTN3A1, BTN3A2, BTN3A3, BTNL2, BVES, BYSL, C2, C4A, C4B, C6orf118, C6orf120, C6orf132, C6orf136, C6orf141, C6orf15, C6orf163, C6orf201, C6orf226, C6orf47, C6orf52, C6orf58, C6orf62, C6orf89, CAGE1, CALHM4, CALHM5, CALHM6, CAP2, CAPN11, CARMIL1, CASP8AP2, CCDC167, CCDC170, CCDC28A, CCHCR1, CCN2, CCN6, CCNC, CCND3, CCR6, CD109, CD164, CD2AP, CD83, CDC40, CDC5L, CDK19, CDKAL1, CDKN1A, CDSN, CDYL, CENPQ, CENPW, CEP162, CEP43, CEP57L1, CEP85L, CFAP206, CFB, CGA, CGAS, CILK1, CITED2, CLDN20, CLIC1, CLIC5, CLPS, CLPSL1, CLPSL2, CLVS2, CMTR1, CNKSR3, CNPY3, CNR1, COL10A1, COL11A2, COL12A1, COL19A1, COL21A1, COL9A1, COQ3, COX7A2, CPNE5, CRIP3, CRISP1, CRISP2, CRISP3, CRYBG1, CSNK2B, CTAGE9, CUL7, CUL9, CUTA, CYB5R4, DCBLD1, CYP21A2, CYP39A1, DAAM2, DACT2, DAXX, DCDC2, DDAH2, DDO, DDR1, DDX39B, DDX43, DEF6, DEFB110, DEFB112, DEFB113, DEFB114, DEK, DHX16, DLK2, DLL1, DNAH8, DNPH1, DOP1A, DPPA5, DSE, DSP, DTNBP1, DUSP22, DXO, DYNLT1, DYNLT2, E2F3, ECHDC1, ECI2, ECT2L, EDN1, EEF1A1, EEF1E1, EFHC1, EGFL8, EHMT2, ELOVL2, ELOVL4, ELOVL5, ENPP1, ENPP3, ENPP4, ENPP5, EPB41L2, EPHA7, EPM2A, ERMARD, ERVFRD-1, ERVH-3, ESR1, ETV7, EXOC2, EYA4, EYS, EZR, F13A1, FABP7, FAM120B, FAM135A, FAM162B, FAM184A, FAM217A, FAM229B, FAM50B, FAM83B, FAM8A1, FANCE, FARS2, FAXC, FBXL4, FBXO30, FBXO5, FBXO9, FGD2, FHL5, FIG4, FILIP1, FKBP5, FKBPL, FLOT1, FNDC1, FOXC1, FOXF2, FOXO3, FOXP4, FOXQ1, FRK, FRMD1, FRS3, FUCA2, FUT9, FYN, GABBR1, GABRR1, GABRR2, GCLC, GCM1, GCM2, GCNT2, GFOD1, GFRAL, GINM1, GJA1, GJA10, GJB7, GLO1, GLP1R, GLYATL3, GMDS, GMNN, GMPR, GNL1, GNMT, GOPC, GPANK1, GPLD1, GPR31, GPR6, GPR63, GPRC6A, GRM4, GPSM3, GPX5, GPX6, GRIK2, GRM1, GSTA1, GSTA2, GSTA3, GSTA4, GSTA5, GTF2H4, GTF2H5, GTF3C6, GTPBP2, GUCA1A, GUCA1B, H1-1, H1-2, H1-3, H1-4, H1-5, H1-6, H2AC1, H2AC11, H2AC12, H2AC13, H2AC14, H2AC15, H2AC16, H2AC17, H2AC4, H2AC6, H2AC7, H2AC8, H2BC1, H2BC10, H2BC11, H2BC12, H2BC13, H2BC14,