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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:
Chr6:106951594-126102365
GRCh38:
Chr6:106503719-125781219
AFG1L, AK9, AMD1, ARMC2, ARMC2-AS1, ASF1A, BEND3, C6orf183, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN6, CD164, CD24, CDC40, CDK19, CEP57L1, CEP85L, CLVS2, COL10A1, CRYBG1, DCBLD1, DDO, DSE, FABP7, FAM162B, FAM184A, FAM229B, FIG4, FOXO3, FRK, FYN, GJA1, GOPC, GPR6, GPRC6A, GTF3C6, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HS3ST5, HSF2, KPNA5, LAMA4, LAMA4-AS1, LINC00222, LINC02518, LINC02523, LINC02526, LINC02527, LINC02532, LINC02534, LINC02541, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC102724646, LOC105377967, LOC105377975, LOC110121046, LOC110121188, LOC110121273, LOC113121302, LOC113121303, LOC113121304, LOC114803478, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121740661, LOC121740662, LOC121740663, LOC121740664, LOC121740665, 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, LOC126859757, LOC126859758, LOC126859759, LOC126859760, LOC126859761, LOC126859762, LOC126859763, LOC126859764, LOC126859765, LOC126859766, LOC126859767, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC127407129, LOC128559983, LOC128667231, 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, 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, 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, LOC132090767, LOC285762, MAN1A1, MARCKS, MCM9, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR587, MROCKI, MTRES1, NCOA7, NKAIN2, NR2E1, NT5DC1, NUS1, OSTM1, OSTM1-AS1, PDSS2, PKIB, PLN, PPIL6, QRSL1, REV3L, RFPL4B, RFX6, RNF217, RNF217-AS1, ROS1, RPF2, RSPH4A, RTN4IP1, RWDD1, SCML4, SEC63, SERINC1, SESN1, SLC16A10, SLC22A16, SLC35F1, SMPD2, SMPDL3A, SNORA40C, SNORD166, SNX3, SOBP, TBC1D32, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1
See casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
5.
GRCh37:
Chr6:109266102-132388860
GRCh38:
Chr6:108944899-132067720
AK9, AKAP7, AMD1, ARG1, ARHGAP18, ARMC2, ASF1A, C6orf183, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CCN2-AS1, CCN6, CD164, CDC40, CDK19, CENPW, CEP57L1, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DDO, DSE, ECHDC1, ENPP1, ENPP3, EPB41L2, FABP7, FAM162B, FAM184A, FAM229B, FIG4, FRK, FYN, GJA1, GOPC, GPR6, GPRC6A, GTF3C6, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LAMA4, LAMA4-AS1, LINC02518, LINC02523, LINC02527, LINC02534, LINC02541, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC102724646, LOC105377967, LOC105377975, LOC108228196, LOC110121046, LOC110121188, LOC110121273, LOC111365199, LOC113121303, LOC113121304, LOC113146409, LOC113146413, LOC114803478, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121740662, LOC121740663, LOC121740664, LOC121740665, LOC121740666, 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, 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, LOC127407129, LOC128559983, LOC128667231, 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, 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, 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, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC132090768, LOC285762, MAN1A1, MARCKS, MCM9, MED23, METTL24, MFSD4B, MICAL1, MIR3144, MIR548B, MIR548H5, MIR588, MROCKI, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, OR2A4, PKIB, PLN, PPIL6, PTPRK, PTPRK-AS1, REV3L, RFPL4B, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RPF2, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SESN1, SLC16A10, SLC22A16, SLC35F1, SMLR1, SMPD2, SMPDL3A, SNORA40C, SNORD166, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAF3IP2, TRAF3IP2-AS1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, TUBE1, VGLL2, WASF1, ZBTB24, ZBTB24-DT, ZUP1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh38:
Chr6:113857248-130442177
ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDAC2, HDAC2-AS2, HDDC2, HEY2, HEY2-AS1, HINT3, HS3ST5, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, LINC02523, LINC02534, LINC02880, LNCPOIR, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121740665, LOC123833526, LOC123833527, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC126859768, LOC126859769, LOC126859770, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC127407129, LOC128667231, 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, 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, LOC132089311, LOC132089312, LOC132089313, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132089333, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MARCKS, MCM9, MIR3144, MIR548B, MIR588, MROCKI, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1
Intellectual disability, autosomal dominant 55, with seizuresPathogenic
(Aug 24, 2023)
criteria provided, single submitter
7.
GRCh37:
Chr6:115922394-128835469
GRCh38:
Chr6:115601230-128514324
LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, LOC129389644, 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, LOC132089314, LOC132089315, LOC132089316, LOC132089317, LOC132089318, LOC132089319, LOC132089320, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MCM9, MIR3144, MIR548B, MIR588, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RSPH4A, RSPO3, RWDD1, SERINC1, SLC35F1, SMPDL3A, SOGA3-KIAA0408, TBC1D32, THEMIS, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, ZUP1, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CENPW, CEP85L, CLVS2, COL10A1, DCBLD1, DSE, ECHDC1, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, KIAA0408, KPNA5, LINC02523, LINC02534, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121740665, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC126859771, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC126859780, LOC127407129, LOC128667231, LOC129389621, LOC129389622, LOC129389623, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh38:
Chr6:115941808-133892653
HINT3, HSF2, KIAA0408, KPNA5, L3MBTL3, LAMA2, ARG1, AKAP7, ARHGAP18, ASF1A, C6orf58, CALHM4, CALHM5, CALHM6, CALHM6-AS1, CCN2, CCN2-AS1, CENPW, CEP85L, CLVS2, COL10A1, CTAGE9, DCBLD1, DSE, ECHDC1, ENPP1, ENPP3, EPB41L2, EYA4, FABP7, FAM162B, FAM184A, FRK, GJA1, GOPC, GPRC6A, HDDC2, HEY2, HEY2-AS1, LINC00326, LINC01013, LINC01312, LINC02523, LOC100126584, LOC100287467, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC111365199, LOC111413038, LOC113146409, LOC113146413, LOC116183067, LOC116183068, LOC121132704, LOC121132705, LOC121132706, LOC121132707, LOC121740665, LOC121740666, LOC123833528, LOC123833529, LOC123833530, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, 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, LOC127407129, LOC128667231, 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, 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, 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, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC132090768, LOC285762, MAN1A1, MCM9, MED23, MIR3144, MIR548AJ1, MIR548B, MIR548H5, MIR588, MOXD1, MTCL3, NCOA7, NCOA7-AS1, NKAIN2, NT5DC1, NUS1, OR2A4, PKIB, PLN, PTPRK, PTPRK-AS1, RFX6, RNF146, RNF217, RNF217-AS1, ROS1, RPS12, RSPH4A, RSPO3, RWDD1, SAMD3, SERINC1, SLC18B1, SLC35F1, SMLR1, SMPDL3A, SNORA33, SNORD100, SNORD101, SOGA3-KIAA0408, STX7, TAAR1, TAAR2, TAAR5, TAAR6, TAAR8, TAAR9, TARID, TBC1D32, TCF21, THEMIS, TMEM200A, TMEM244, TPD52L1, TRAPPC3L, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11, TSPYL1, TSPYL4, VGLL2, VNN1, VNN2, VNN3, ZUP1
Interstitial 6q microdeletion syndromePathogenic
(Aug 25, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr6:117136362-120040041
GRCh38:
Chr6:116815199-119718887
See casesLikely pathogenic
(Mar 26, 2013)
no assertion criteria provided
10.
GRCh37:
Chr6:117928310-127021125
GRCh38:
Chr6:117607147-126699980
ASF1A, CENPW, CEP85L, CLVS2, FABP7, FAM184A, GJA1, HDDC2, HEY2, HEY2-AS1, HINT3, HSF2, LINC02523, LOC100126584, LOC101927919, LOC102723341, LOC105377967, LOC105377975, LOC108228196, LOC110121273, LOC113146409, LOC116183067, LOC116183068, LOC121132705, LOC123833531, LOC123833532, LOC123833533, LOC123833534, LOC123833535, LOC123833536, LOC123833537, LOC123864060, LOC123864061, LOC123864062, LOC126859772, LOC126859773, LOC126859774, LOC126859775, LOC126859776, LOC126859777, LOC126859778, LOC126859779, LOC129389624, LOC129389625, LOC129389626, LOC129389627, LOC129389628, LOC129389629, LOC129389630, LOC129389631, LOC129389632, LOC129389633, LOC129389634, LOC129389635, LOC129389636, LOC129389637, LOC129389638, LOC129389639, LOC129389640, LOC129389641, LOC129389642, LOC129389643, 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, LOC132089321, LOC132089322, LOC132089323, LOC132089324, LOC132089325, LOC132089326, LOC132089327, LOC132089328, LOC132089329, LOC132089330, LOC132089331, LOC132089332, LOC132090764, LOC132090765, LOC132090766, LOC132090767, LOC285762, MAN1A1, MCM9, MIR3144, MIR548B, MIR588, NCOA7, NCOA7-AS1, NKAIN2, NUS1, PKIB, PLN, RNF217, RNF217-AS1, SERINC1, SLC35F1, SMPDL3A, TBC1D32, TPD52L1, TRDN, TRDN-AS1, TRE-CTC1-7, TRMT11
See casesPathogenic
(Oct 7, 2011)
no assertion criteria provided
11.
GRCh37:
Chr6:118551027-119044197
GRCh38:
Chr6:118229864-118723034
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr6:118711850-119057295
GRCh38:
Chr6:118390687-118736132
CEP85L, LOC110121273, LOC123833532, LOC126859773, LOC129389626, LOC129997071, LOC129997072, LOC129997073, LOC129997074, PLNSee casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr6:118830249-119925663
GRCh38:
Chr6:118509086-119604498
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
14.
GRCh37:
Chr6:118869224-118880253
GRCh38:
Chr6:118548061-118559090
CEP85L, PLNDilated cardiomyopathy 1PPathogenic
(Aug 25, 2019)
criteria provided, single submitter
15.
GRCh37:
Chr6:118869224-118880253
GRCh38:
Chr6:118548061-118559090
CEP85L, PLNDilated cardiomyopathy 1PUncertain significance
(Dec 15, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr6:118869339
GRCh38:
Chr6:118548176
CEP85L, PLNDilated cardiomyopathy 1PUncertain significance
(Aug 23, 2020)
criteria provided, single submitter
17.
GRCh37:
Chr6:118869345
GRCh38:
Chr6:118548182
PLN, CEP85LDilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:118869382-118880263
GRCh38:
Chr6:118548219-118559100
CEP85L, PLNDilated cardiomyopathy 1PUncertain significance
(Jun 28, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr6:118869382
GRCh38:
Chr6:118548219
PLN, CEP85LDilated cardiomyopathy 1PUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:118869412
GRCh38:
Chr6:118548249
CEP85L, PLNnot provided, Dilated cardiomyopathy 1PConflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr6:118869417
GRCh38:
Chr6:118548254
PLN, CEP85LDilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P
Uncertain significance
(May 13, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:118869423
GRCh38:
Chr6:118548260
CEP85L, PLNnot specified, Lissencephaly 10, not provided,
Dilated cardiomyopathy 1P
Benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:118869503
GRCh38:
Chr6:118548340
CEP85L, PLNnot provided, Dilated cardiomyopathy 1PBenign/Likely benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr6:118869511
GRCh38:
Chr6:118548348
PLN, CEP85LDilated Cardiomyopathy, Dominant, Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P,
Hypertrophic cardiomyopathy
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:118869533
GRCh38:
Chr6:118548370
CEP85L, PLNHypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Dilated cardiomyopathy 1P
Uncertain significance
(Jul 29, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr6:118869570
GRCh38:
Chr6:118548407
CEP85L, PLNnot providedLikely benign
(Apr 25, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr6:118869572
GRCh38:
Chr6:118548409
CEP85L, PLNnot specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr6:118879695
GRCh38:
Chr6:118558532
CEP85L, PLNnot providedLikely benign
(Jun 30, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr6:118879782
GRCh38:
Chr6:118558619
CEP85L, PLNnot providedBenign
(Aug 13, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr6:118879788-118879789
GRCh38:
Chr6:118558625-118558626
CEP85L, PLNnot providedLikely benign
(Oct 21, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr6:118879789-118879790
GRCh38:
Chr6:118558626-118558627
CEP85L, PLNnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
32.
GRCh37:
Chr6:118879789-118879790
GRCh38:
Chr6:118558626-118558627
CEP85L, PLNnot providedBenign
(Nov 14, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr6:118879789-118879790
GRCh38:
Chr6:118558626-118558627
CEP85L, PLNnot providedBenign
(Aug 15, 2019)
criteria provided, single submitter
34.
GRCh37:
Chr6:118879789-118879790
GRCh38:
Chr6:118558626-118558627
CEP85L, PLNnot providedBenign
(Aug 21, 2019)
criteria provided, single submitter
35.
GRCh37:
Chr6:118879790-118879793
GRCh38:
Chr6:118558627-118558630
CEP85L, PLNnot providedBenign
(Aug 21, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr6:118879810-118879825
GRCh38:
Chr6:118558647-118558662
PLN, CEP85Lnot providedBenign
(Aug 13, 2019)
criteria provided, single submitter
37.
GRCh37:
Chr6:118879819
GRCh38:
Chr6:118558656
CEP85L, PLNnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
38.
GRCh37:
Chr6:118879821
GRCh38:
Chr6:118558658
CEP85L, PLNnot providedBenign
(Aug 10, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr6:118879822-118879827
GRCh38:
Chr6:118558659-118558664
CEP85L, PLNnot providedLikely benign
(Aug 13, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr6:118879825
GRCh38:
Chr6:118558662
CEP85L, PLNnot providedBenign
(Aug 18, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr6:118879827
GRCh38:
Chr6:118558664
CEP85L, PLNnot providedBenign
(Aug 18, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr6:118879829
GRCh38:
Chr6:118558666
CEP85L, PLNnot providedBenign
(Aug 18, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr6:118879883
GRCh38:
Chr6:118558720
PLN, CEP85Lnot providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr6:118879935
GRCh38:
Chr6:118558772
CEP85L, PLNnot providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr6:118879979
GRCh38:
Chr6:118558816
CEP85L, PLNnot providedLikely benign
(Dec 27, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr6:118879983
GRCh38:
Chr6:118558820
CEP85L, PLNnot provided, Dilated cardiomyopathy 1PUncertain significance
(Apr 11, 2019)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr6:118879988-118881587
GRCh38:
Chr6:118558825-118560424
CEP85L, PLNDilated cardiomyopathy 1PUncertain significance
(Jul 31, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr6:118880029
GRCh38:
Chr6:118558866
CEP85L, PLNnot provided, Dilated cardiomyopathy 1PConflicting interpretations of pathogenicity
(Apr 27, 2017)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr6:118880045
GRCh38:
Chr6:118558882
CEP85L, PLNnot specifiedLikely benign
(Mar 1, 2016)
criteria provided, single submitter
50.
GRCh37:
Chr6:118880071
GRCh38:
Chr6:118558908
CEP85L, PLNnot specifiedLikely benign
(Mar 17, 2016)
criteria provided, single submitter
51.
GRCh37:
Chr6:118880081
GRCh38:
Chr6:118558918
CEP85L, PLNCardiovascular phenotypeUncertain significance
(Jan 20, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr6:118880086
GRCh38:
Chr6:118558923
CEP85L, PLNM1Tnot specifiedUncertain significance
(Nov 20, 2013)
criteria provided, single submitter
53.
GRCh37:
Chr6:118880090-118880091
GRCh38:
Chr6:118558927-118558928
CEP85L, PLNV4fsDilated cardiomyopathy 1PPathogenic
(May 31, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:118880098
GRCh38:
Chr6:118558935
CEP85L, PLNQ5Rnot specifiedUncertain significance
(Jun 23, 2015)
criteria provided, single submitter
55.
GRCh37:
Chr6:118880100
GRCh38:
Chr6:118558937
PLN, CEP85LY6HDilated cardiomyopathy 1PUncertain significance
(Feb 7, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr6:118880106-118880107
GRCh38:
Chr6:118558943-118558944
CEP85L, PLNA11fsDilated cardiomyopathy 1PPathogenic
(Oct 12, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr6:118880106
GRCh38:
Chr6:118558943
CEP85L, PLNT8PDilated cardiomyopathy 1PUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr6:118880109
GRCh38:
Chr6:118558946
CEP85L, PLNR9Cnot provided, Cardiomyopathy, Primary dilated cardiomyopathy,
Dilated cardiomyopathy 1P
Pathogenic
(Aug 29, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr6:118880110
GRCh38:
Chr6:118558947
PLN, CEP85LR9HCardiovascular phenotype, not specified, Dilated cardiomyopathy 1P
Conflicting interpretations of pathogenicity
(Jun 30, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr6:118880111
GRCh38:
Chr6:118558948
PLN, CEP85Lnot specifiedLikely benign
(Aug 29, 2017)
criteria provided, single submitter
61.
GRCh37:
Chr6:118880111
GRCh38:
Chr6:118558948
CEP85L, PLNCardiovascular phenotype, not specified, not provided,
Cardiomyopathy, Dilated cardiomyopathy 1P
Conflicting interpretations of pathogenicity
(Feb 1, 2023)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr6:118880113
GRCh38:
Chr6:118558950
CEP85L, PLNS10LDilated cardiomyopathy 1PUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr6:118880115
GRCh38:
Chr6:118558952
CEP85L, PLNA11PDilated cardiomyopathy 1PUncertain significance
(Jan 28, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr6:118880115
GRCh38:
Chr6:118558952
CEP85L, PLNA11TDilated cardiomyopathy 1PUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr6:118880118-118880119
GRCh38:
Chr6:118558955-118558956
CEP85L, PLNR13fsCardiovascular phenotypeUncertain significance
(Apr 14, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr6:118880118
GRCh38:
Chr6:118558955
CEP85L, PLNI12VCardiovascular phenotype, Cardiomyopathy, Dilated cardiomyopathy 1P,
not provided
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr6:118880119
GRCh38:
Chr6:118558956
CEP85L, PLNI12Tnot provided, Cardiovascular phenotypeUncertain significance
(Dec 7, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr6:118880119-118880120
GRCh38:
Chr6:118558956-118558957
CEP85L, PLNR13fsnot specifiedUncertain significance
(Feb 24, 2011)
criteria provided, single submitter
69.
GRCh37:
Chr6:118880120
GRCh38:
Chr6:118558957
CEP85L, PLNI12MCardiomyopathy, Dilated cardiomyopathy 1PUncertain significance
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr6:118880120-118880122
GRCh38:
Chr6:118558957-118558959
CEP85L, PLNR14delCardiovascular phenotype, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 18, SUDDEN INFANT DEATH SYNDROME, Primary dilated cardiomyopathy,
Dilated cardiomyopathy 1P
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
71.
GRCh37:
Chr6:118880122
GRCh38:
Chr6:118558959
CEP85L, PLNR13KCardiovascular phenotypeUncertain significance
(Jun 23, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr6:118880125
GRCh38:
Chr6:118558962
CEP85L, PLNR14ICardiovascular phenotype, Dilated cardiomyopathy 1PUncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr6:118880127
GRCh38:
Chr6:118558964
CEP85L, PLNA15Tnot specified, Dilated cardiomyopathy 1PConflicting interpretations of pathogenicity
(Dec 24, 2021)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr6:118880129
GRCh38:
Chr6:118558966
CEP85L, PLNDilated cardiomyopathy 1P, Cardiovascular phenotypeLikely benign
(Jun 14, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr6:118880137
GRCh38:
Chr6:118558974
CEP85L, PLNI18TCardiomyopathy, Cardiovascular phenotype, Dilated cardiomyopathy 1P,
Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy 18, Hypertrophic cardiomyopathy
Uncertain significance
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr6:118880140
GRCh38:
Chr6:118558977
CEP85L, PLNE19GCardiovascular phenotype, Dilated cardiomyopathy 1PUncertain significance
(May 12, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:118880145
GRCh38:
Chr6:118558982
CEP85L, PLNP21SHypertrophic cardiomyopathy 18Uncertain significance
(Feb 14, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr6:118880145-118880146
GRCh38:
Chr6:118558982-118558983
CEP85L, PLNQ22fsCardiovascular phenotype, not specified, Cardiomyopathy,
Dilated cardiomyopathy 1P, Hypertrophic cardiomyopathy
Conflicting interpretations of pathogenicity
(May 11, 2022)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr6:118880145
GRCh38:
Chr6:118558982
CEP85L, PLNP21THypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, not provided,
Dilated cardiomyopathy 1P
Uncertain significance
(Aug 10, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr6:118880146-118880147
GRCh38:
Chr6:118558983-118558984
CEP85L, PLNQ22fsHypertrophic cardiomyopathy 18Likely pathogenic
(Dec 21, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr6:118880151
GRCh38:
Chr6:118558988
CEP85L, PLNQ23Enot specifiedUncertain significance
(Mar 11, 2015)
criteria provided, single submitter
82.
GRCh37:
Chr6:118880153
GRCh38:
Chr6:118558990
CEP85L, PLNnot provided, Dilated cardiomyopathy 1PLikely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr6:118880157
GRCh38:
Chr6:118558994
CEP85L, PLNR25CCardiovascular phenotype, not provided, Dilated cardiomyopathy 1P
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
84.
GRCh37:
Chr6:118880157
GRCh38:
Chr6:118558994
CEP85L, PLNR25Gnot provided, Dilated cardiomyopathy 1PUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr6:118880158
GRCh38:
Chr6:118558995
PLN, CEP85LR25HCardiovascular phenotype, Dilated cardiomyopathy 1P, not provided
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr6:118880163
GRCh38:
Chr6:118559000
CEP85L, PLNK27EDilated cardiomyopathy 1PUncertain significance
(Aug 18, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr6:118880169
GRCh38:
Chr6:118559006
CEP85L, PLNQ29*Dilated cardiomyopathy 1PPathogenic
(Oct 11, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:118880171
GRCh38:
Chr6:118559008
PLN, CEP85LQ29HCardiovascular phenotypeUncertain significance
(Aug 11, 2023)
criteria provided, single submitter
89.
GRCh37:
Chr6:118880174
GRCh38:
Chr6:118559011
CEP85L, PLNDilated cardiomyopathy 1PUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
90.
GRCh37:
Chr6:118880176-118880179
GRCh38:
Chr6:118559013-118559016
CEP85L, PLNF32fsDilated cardiomyopathy 1PPathogenic
(Apr 9, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:118880188-118880189
GRCh38:
Chr6:118559025-118559026
PLN, CEP85LF35fsDilated cardiomyopathy 1PPathogenic
(Mar 19, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:118880197
GRCh38:
Chr6:118559034
CEP85L, PLNI38TDilated cardiomyopathy 1PUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:118880198
GRCh38:
Chr6:118559035
CEP85L, PLNI38MCardiovascular phenotypeUncertain significance
(Oct 21, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:118880200
GRCh38:
Chr6:118559037
CEP85L, PLNL39*Cardiovascular phenotype, Intrinsic cardiomyopathy, not provided,
Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Cardiomyopathy,
Hypertrophic cardiomyopathy 18, Dilated cardiomyopathy 1P, Primary dilated cardiomyopathy,
Hypertrophic cardiomyopathy
Pathogenic/Likely pathogenic
(Sep 6, 2023)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr6:118880205
GRCh38:
Chr6:118559042
PLN, CEP85LC41SDilated cardiomyopathy 1PUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:118880207-118880208
GRCh38:
Chr6:118559044-118559045
PLN, CEP85LL43fsCardiovascular phenotype, Dilated cardiomyopathy 1PUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr6:118880208
GRCh38:
Chr6:118559045
PLN, CEP85LL42IDilated cardiomyopathy 1PUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr6:118880211-118880212
GRCh38:
Chr6:118559048-118559049
CEP85L, PLNnot provided, Dilated cardiomyopathy 1PUncertain significance
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr6:118880215
GRCh38:
Chr6:118559052
CEP85L, PLNL44PCardiovascular phenotype, Dilated cardiomyopathy 1PUncertain significance
(Jun 29, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr6:118880222
GRCh38:
Chr6:118559059
CEP85L, PLNDilated cardiomyopathy 1PLikely benign
(Jun 16, 2021)
criteria provided, single submitter
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