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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:
Chr6:76635916-93420511
GRCh38:
Chr6:75926199-92710793
ME1, MEI4, MIR10524, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PHIP, PM20D2, PNRC1, PNRC1-DT, PRSS35, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, RWDD2A, SH3BGRL2, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TENT5A, TPBG, TTK, UBE2J1, UBE3D, ZNF292, AKIRIN2, ANKRD6, BACH2, BCKDHB, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, ELOVL4, GABRR1, GABRR2, GJA10, GJB7, HMGN3, HMGN3-AS1, HTR1B, HTR1E, IBTK, IMPG1, IRAK1BP1, LCA5, LCAL1, LINC01526, LINC01590, LINC01611, LINC01621, LINC02531, LINC02535, LINC02540, LINC02542, LOC101928911, LOC101928936, LOC105377862, LOC105377879, LOC108348029, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132695, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740657, LOC121740658, LOC123775376, LOC123775377, LOC123775378, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, 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, 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, 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, LOC132089464, LOC132089465, LOC132089466, LOC132089467, LOC132089468, LOC132089469, LOC132089470, LOC132089471, LOC132089472, LOC132089473, LOC132089474, LOC132089475, LOC132089476, LOC132089477, LOC132089478, LOC132089479, LOC132089480, LOC132089481, LOC132089482, LOC132089501, LOC132089502, LOC132090762, LOC132090763, LOC132205965, LYRM2, MAP3K7, MDN1, MDN1-AS1
See casesPathogenic
(Jul 16, 2013)
no assertion criteria provided
3.
GRCh37:
Chr6:83278815-94463194
GRCh38:
Chr6:82569098-93753476
AKIRIN2, ANKRD6, BACH2, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, DOP1A, EPHA7, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LINC01590, LINC01611, LINC02531, LINC02535, LOC101928911, LOC101928936, LOC105377879, LOC108348029, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775379, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859726, LOC126859727, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389564, LOC129389565, LOC129389566, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, 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, LOC132089501, LOC132089502, LOC132089503, LYRM2, MAP3K7, MDN1, MDN1-AS1, ME1, MIR4464, MIR4643, MRAP2, NT5E, ORC3, PGM3, PM20D2, PNRC1, PNRC1-DT, PRSS35, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, RWDD2A, SLC35A1, SMIM8, SNAP91, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TSG1, UBE2J1, UBE3D, ZNF292
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr6:84548022-99270189
GRCh38:
Chr6:83838303-98822313
SMIM8, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, TBX18, TBX18-AS1, TSG1, UBE2J1, UFL1, UFL1-AS1, ZNF292, AKIRIN2, ANKRD6, BACH2, C6orf163, CASC6, CASP8AP2, CEP162, CFAP206, CGA, CNR1, CYB5R4, EPHA7, FHL5, FUT9, GABRR1, GABRR2, GJA10, GJB7, GPR63, HTR1E, KLHL32, LINC01590, LINC01611, LINC02531, LINC02535, LOC101927314, LOC101928911, LOC101928936, LOC108348029, LOC110120646, LOC110120647, LOC110120704, LOC110120705, LOC110120741, LOC110120818, LOC110120970, LOC110120984, LOC110120985, LOC110120999, LOC110121032, LOC110121036, LOC110121145, LOC110121249, LOC111413030, LOC111429613, LOC113175019, LOC113175020, LOC116183065, LOC116183066, LOC121132696, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775380, LOC123775381, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC123775386, LOC123775387, LOC123775388, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC126859747, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389567, LOC129389568, LOC129389569, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, LOC129389583, LOC129389584, LOC129389585, LOC129389586, LOC129389587, LOC129389588, LOC129389589, 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, LOC132089501, LOC132089502, LOC132089503, LYRM2, MANEA, MANEA-DT, MAP3K7, MDN1, MDN1-AS1, MIR2113, MIR4464, MIR4643, MMS22L, MRAP2, NDUFAF4, NT5E, ORC3, PM20D2, PNRC1, PNRC1-DT, RARS2, RIPPLY2, RIPPLY2-CYB5R4, RNGTT, RRAGD, SLC35A1
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr6:85636582-88075159
GRCh38:
Chr6:84926864-87365441
See casesLikely pathogenic
(Jan 13, 2012)
no assertion criteria provided
6.
GRCh37:
Chr6:86080434-91379512
GRCh38:
Chr6:85370716-90669793
AKIRIN2, ANKRD6, BACH2, C6orf163, CASP8AP2, CFAP206, CGA, CNR1, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LINC01590, LINC02535, LOC101928911, LOC101928936, LOC108348029, LOC111413030, LOC113175020, LOC116183066, LOC121132697, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775382, LOC123775383, LOC123775384, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389570, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, 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, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, NT5E, ORC3, PM20D2, PNRC1, PNRC1-DT, RARS2, RNGTT, RRAGD, SLC35A1, SMIM8, SNHG5, SNORD50A, SNORD50B, SNX14, SPACA1, SRSF12, SYNCRIP, UBE2J1, ZNF292
See casesPathogenic
(Jan 30, 2010)
no assertion criteria provided
7.
GRCh37:
Chr6:86513991-93898976
GRCh38:
Chr6:85804273-93189258
AKIRIN2, ANKRD6, BACH2, C6orf163, CASC6, CASP8AP2, CFAP206, CGA, CNR1, GABRR1, GABRR2, GJA10, GJB7, HTR1E, LINC01590, LINC02531, LOC101928911, LOC101928936, LOC108348029, LOC111413030, LOC111429613, LOC113175020, LOC116183066, LOC121132698, LOC121132699, LOC121132700, LOC121740658, LOC123775382, LOC123775383, LOC123775384, LOC123775385, LOC126859728, LOC126859729, LOC126859730, LOC126859731, LOC126859732, LOC126859733, LOC126859734, LOC126859735, LOC126859736, LOC126859737, LOC126859738, LOC126859739, LOC126859740, LOC126859741, LOC126859742, LOC126859743, LOC126859744, LOC126859745, LOC126859746, LOC128772296, LOC128772297, LOC128772298, LOC128772299, LOC128772300, LOC128772301, LOC128772302, LOC128772303, LOC129389571, LOC129389572, LOC129389573, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129389579, LOC129389580, LOC129389581, LOC129389582, 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, LOC132089501, LOC132089502, LYRM2, MAP3K7, MDN1, MDN1-AS1, MIR4464, MIR4643, ORC3, PM20D2, PNRC1, PNRC1-DT, RARS2, RNGTT, RRAGD, SLC35A1, SMIM8, SPACA1, SRSF12, UBE2J1, ZNF292
See casesPathogenic
(Jul 30, 2009)
no assertion criteria provided
8.
GRCh37:
Chr6:86969283-88022690
GRCh38:
Chr6:86259565-87312972
See casesUncertain significance
(Feb 25, 2011)
no assertion criteria provided
9.
GRCh37:
Chr6:87760099-88245236
GRCh38:
Chr6:87050381-87535518
See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
10.
GRCh37:
Chr6:87865311
GRCh38:
Chr6:87155593
LOC129996783, ZNF292M1RIntellectual developmental disorder, autosomal dominant 64Uncertain significance
(Mar 14, 2023)
criteria provided, single submitter
11.
GRCh37:
Chr6:87865349
GRCh38:
Chr6:87155631
LOC129996783, ZNF292G14SInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr6:87865356
GRCh38:
Chr6:87155638
LOC129996783, ZNF292G16AInborn genetic diseasesUncertain significance
(Dec 29, 2020)
criteria provided, single submitter
13.
GRCh37:
Chr6:87865367
GRCh38:
Chr6:87155649
ZNF292, LOC129996783A20TInborn genetic diseasesLikely benign
(Jul 2, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr6:87865370
GRCh38:
Chr6:87155652
LOC129996783, ZNF292E21QIntellectual developmental disorder, autosomal dominant 64Likely pathogenic
(Aug 21, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr6:87865377
GRCh38:
Chr6:87155659
LOC129996783, ZNF292Q23PInborn genetic diseasesLikely benign
(Jun 11, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr6:87865388
GRCh38:
Chr6:87155670
LOC129996783, ZNF292E27Qnot providedUncertain significance
(Feb 21, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr6:87865391
GRCh38:
Chr6:87155673
LOC129996783, ZNF292R28Wnot providedUncertain significance
(Oct 17, 2019)
criteria provided, single submitter
18.
GRCh37:
Chr6:87865427
GRCh38:
Chr6:87155709
LOC129996783, ZNF292R40Wnot providedUncertain significance
(Aug 8, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr6:87925627
GRCh38:
Chr6:87215909
ZNF292L59VInborn genetic diseasesUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr6:87925636
GRCh38:
Chr6:87215918
ZNF292A62TZNF292-related conditionUncertain significance
(Jul 11, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr6:87925641
GRCh38:
Chr6:87215923
ZNF292E63Dnot providedUncertain significance
(Aug 1, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:87925717
GRCh38:
Chr6:87215999
ZNF292R89*Intellectual disability, Intellectual developmental disorder, autosomal dominant 64Pathogenic/Likely pathogenic
(May 17, 2023)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:87925721
GRCh38:
Chr6:87216003
ZNF292P90RInborn genetic diseasesUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr6:87925746
GRCh38:
Chr6:87216028
ZNF292N98KInborn genetic diseasesUncertain significance
(Apr 18, 2023)
criteria provided, single submitter
25.
GRCh37:
Chr6:87925776
GRCh38:
Chr6:87216058
ZNF292Intellectual developmental disorder, autosomal dominant 64Uncertain significance
(Jan 27, 2020)
criteria provided, single submitter
26.
GRCh37:
Chr6:87926045
GRCh38:
Chr6:87216327
ZNF292P118SSee casesUncertain significance
(Sep 3, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr6:87928317
GRCh38:
Chr6:87218599
ZNF292A136TIntellectual developmental disorder, autosomal dominant 64Uncertain significancecriteria provided, single submitter
28.
GRCh37:
Chr6:87928344
GRCh38:
Chr6:87218626
ZNF292S145fs, S5fsInborn genetic diseasesPathogenic
(Dec 19, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr6:87928347
GRCh38:
Chr6:87218629
ZNF292C146G, C6Gnot providedUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:87928374
GRCh38:
Chr6:87218656
ZNF292A155T, A15Tnot providedUncertain significance
(Apr 26, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr6:87928390
GRCh38:
Chr6:87218672
ZNF292V20A, V160AInborn genetic diseasesUncertain significance
(Jun 14, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:87928413
GRCh38:
Chr6:87218695
ZNF292T168S, T28SInborn genetic diseasesLikely benign
(Oct 12, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr6:87928416
GRCh38:
Chr6:87218698
ZNF292I169L, I29LIntellectual developmental disorder, autosomal dominant 64Uncertain significance
(Dec 1, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr6:87928416
GRCh38:
Chr6:87218698
ZNF292I169V, I29VInborn genetic diseasesUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr6:87928426
GRCh38:
Chr6:87218708
ZNF292Q172R, Q32Rnot providedLikely benign
(Jun 1, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr6:87943087
GRCh38:
Chr6:87233369
ZNF292R195G, R55Gnot providedUncertain significance
(Apr 28, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:87943104
GRCh38:
Chr6:87233386
ZNF292I200M, I60MInborn genetic diseasesUncertain significance
(May 27, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:87953190
GRCh38:
Chr6:87243472
ZNF292not providedUncertain significance
(May 1, 2023)
criteria provided, single submitter
39.
GRCh37:
Chr6:87953269
GRCh38:
Chr6:87243551
ZNF292L133P, L273Pnot providedLikely pathogenic
(Sep 2, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr6:87953275
GRCh38:
Chr6:87243557
ZNF292L135S, L275Snot providedUncertain significance
(Apr 17, 2023)
criteria provided, single submitter
41.
GRCh37:
Chr6:87953317
GRCh38:
Chr6:87243599
ZNF292M149T, M289TInborn genetic diseasesUncertain significance
(Mar 24, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr6:87953321
GRCh38:
Chr6:87243603
ZNF292Y150*, Y290*Intellectual developmental disorder, autosomal dominant 64Likely pathogenic
(Jan 5, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:87953322
GRCh38:
Chr6:87243604
ZNF292C151G, C291Gnot providedLikely benign
(Oct 1, 2023)
criteria provided, single submitter
44.
GRCh37:
Chr6:87955207
GRCh38:
Chr6:87245489
ZNF292not providedBenign
(Sep 25, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr6:87955294
GRCh38:
Chr6:87245576
ZNF292R178C, R318CInborn genetic diseasesUncertain significance
(Mar 26, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr6:87955306
GRCh38:
Chr6:87245588
ZNF292L322V, L182VInborn genetic diseasesLikely benign
(Dec 6, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:87964365
GRCh38:
Chr6:87254647
ZNF292Intellectual developmental disorder, autosomal dominant 64Uncertain significance
(Jul 12, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr6:87964449
GRCh38:
Chr6:87254731
ZNF292K228E, K368EInborn genetic diseasesUncertain significance
(Sep 15, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:87964507
GRCh38:
Chr6:87254789
ZNF292R247H, R387Hnot providedUncertain significance
(Oct 11, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:87964507
GRCh38:
Chr6:87254789
ZNF292R247fs, R387fsNeurodevelopmental disorderLikely pathogenicno assertion criteria provided
51.
GRCh37:
Chr6:87964525
GRCh38:
Chr6:87254807
ZNF292E253V, E393Vnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr6:87964537
GRCh38:
Chr6:87254819
ZNF292E257G, E397GInborn genetic diseases, Intellectual developmental disorder, autosomal dominant 64Uncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
53.
GRCh37:
Chr6:87964574
GRCh38:
Chr6:87254856
ZNF292Intellectual developmental disorder, autosomal dominant 64, not providedBenign/Likely benign
(May 17, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr6:87964606
GRCh38:
Chr6:87254888
ZNF292E280G, E420GSeizureUncertain significance
(Feb 26, 2020)
no assertion criteria provided
55.
GRCh37:
Chr6:87964609
GRCh38:
Chr6:87254891
ZNF292N281S, N421SIntellectual developmental disorder, autosomal dominant 64Uncertain significance
(Oct 19, 2020)
criteria provided, single submitter
56.
GRCh37:
Chr6:87964617
GRCh38:
Chr6:87254899
ZNF292I284V, I424Vnot providedUncertain significance
(May 18, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr6:87964620
GRCh38:
Chr6:87254902
ZNF292P285S, P425SIntellectual developmental disorder, autosomal dominant 64Uncertain significance
(Dec 23, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr6:87964707
GRCh38:
Chr6:87254989
ZNF292R314*, R454*Intellectual developmental disorder, autosomal dominant 64Pathogenic
(Mar 19, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr6:87964735
GRCh38:
Chr6:87255017
ZNF292E323A, E463Anot providedUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr6:87964755
GRCh38:
Chr6:87255037
ZNF292I470V, I330VNeurodevelopmental disorderUncertain significanceno assertion criteria provided
61.
GRCh37:
Chr6:87964761
GRCh38:
Chr6:87255043
ZNF292E332*, E472*Intellectual developmental disorder, autosomal dominant 64Pathogenic
(Nov 6, 2023)
criteria provided, single submitter
62.
GRCh37:
Chr6:87964770
GRCh38:
Chr6:87255052
ZNF292D335H, D475HIntellectual developmental disorder, autosomal dominant 64Uncertain significance
(May 5, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr6:87964771
GRCh38:
Chr6:87255053
ZNF292D335G, D475Gnot specifiedUncertain significance
(Jul 21, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr6:87964831
GRCh38:
Chr6:87255113
ZNF292N495S, N355SInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr6:87964846
GRCh38:
Chr6:87255128
ZNF292G500V, G360Vnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
66.
GRCh37:
Chr6:87964914
GRCh38:
Chr6:87255196
ZNF292Q383*, Q523*Neurodevelopmental disorderLikely pathogenicno assertion criteria provided
67.
GRCh37:
Chr6:87964965
GRCh38:
Chr6:87255247
ZNF292Y400H, Y540HIntellectual developmental disorder, autosomal dominant 64Uncertain significance
(Feb 2, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:87964973
GRCh38:
Chr6:87255255
ZNF292not providedLikely benign
(Apr 1, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr6:87964994
GRCh38:
Chr6:87255276
ZNF292ZNF292-related conditionUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:87965019
GRCh38:
Chr6:87255301
ZNF292R418*, R558*not providedLikely pathogenic
(Jul 24, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:87965020
GRCh38:
Chr6:87255302
ZNF292R418Q, R558Qnot providedUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr6:87965057
GRCh38:
Chr6:87255339
ZNF292C431fs, C571fsnot providedLikely pathogenic
(Oct 23, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr6:87965062
GRCh38:
Chr6:87255344
ZNF292P432L, P572Lnot providedUncertain significance
(Jul 10, 2019)
criteria provided, single submitter
74.
GRCh37:
Chr6:87965079
GRCh38:
Chr6:87255361
ZNF292F578L, F438LInborn genetic diseasesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr6:87965107
GRCh38:
Chr6:87255389
ZNF292H447P, H587Pnot providedUncertain significance
(Oct 19, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:87965133-87965136
GRCh38:
Chr6:87255415-87255418
ZNF292S456fs, S596fsIntellectual disabilityLikely pathogenic
(Sep 10, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr6:87965179
GRCh38:
Chr6:87255461
ZNF292R611T, R471TInborn genetic diseasesUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr6:87965205
GRCh38:
Chr6:87255487
ZNF292E480*, E620*Neurodevelopmental disorderUncertain significanceno assertion criteria provided
79.
GRCh37:
Chr6:87965244
GRCh38:
Chr6:87255526
ZNF292R493*, R633*ZNF292-related condition, not providedLikely pathogenic
(Sep 25, 2023)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr6:87965252
GRCh38:
Chr6:87255534
ZNF292K497fs, K637fsNeurodevelopmental disorderUncertain significanceno assertion criteria provided
81.
GRCh37:
Chr6:87965293
GRCh38:
Chr6:87255575
ZNF292N509S, N649Snot providedUncertain significance
(Nov 23, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:87965358
GRCh38:
Chr6:87255640
ZNF292P531A, P671AInborn genetic diseasesUncertain significance
(Dec 28, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:87965382-87965385
GRCh38:
Chr6:87255664-87255667
ZNF292E540fs, E680fsIntellectual developmental disorder, autosomal dominant 64Likely pathogeniccriteria provided, single submitter
84.
GRCh37:
Chr6:87965451
GRCh38:
Chr6:87255733
ZNF292V562M, V702MInborn genetic diseasesUncertain significance
(Jan 10, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr6:87965459
GRCh38:
Chr6:87255741
ZNF292not providedLikely benign
(Aug 1, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr6:87965469-87965472
GRCh38:
Chr6:87255751-87255754
ZNF292N568fs, N708fsnot providedLikely pathogenic
(Nov 1, 2020)
criteria provided, single submitter
87.
GRCh37:
Chr6:87965496
GRCh38:
Chr6:87255778
ZNF292M717L, M577LInborn genetic diseasesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr6:87965515
GRCh38:
Chr6:87255797
ZNF292C584fs, C724fsNeurodevelopmental disorderLikely pathogenicno assertion criteria provided
89.
GRCh37:
Chr6:87965519
GRCh38:
Chr6:87255801
ZNF292not providedBenign/Likely benign
(Aug 1, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr6:87965528
GRCh38:
Chr6:87255810
ZNF292not providedBenign
(Aug 2, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr6:87965551
GRCh38:
Chr6:87255833
ZNF292T595N, T735Nnot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr6:87965605
GRCh38:
Chr6:87255887
ZNF292I613T, I753TInborn genetic diseasesLikely benign
(Oct 26, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:87965624
GRCh38:
Chr6:87255906
ZNF292not providedLikely benign
(Jun 1, 2023)
criteria provided, single submitter
94.
GRCh37:
Chr6:87965637-87965638
GRCh38:
Chr6:87255919-87255920
ZNF292Y624*, Y764*Neurodevelopmental delayPathogeniccriteria provided, single submitter
95.
GRCh37:
Chr6:87965658
GRCh38:
Chr6:87255940
ZNF292R631*, R771*Complex neurodevelopmental disorderUncertain significance
(Mar 2, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr6:87965659
GRCh38:
Chr6:87255941
ZNF292R631Q, R771QIntellectual developmental disorder, autosomal dominant 64Likely benign
(May 6, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr6:87965667
GRCh38:
Chr6:87255949
ZNF292H634D, H774Dnot providedUncertain significance
(Aug 12, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr6:87965707
GRCh38:
Chr6:87255989
ZNF292G647E, G787EIntellectual developmental disorder, autosomal dominant 64Uncertain significancecriteria provided, single submitter
99.
GRCh37:
Chr6:87965719
GRCh38:
Chr6:87256001
ZNF292S791L, S651LInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr6:87965751
GRCh38:
Chr6:87256033
ZNF292Q662*, Q802*Intellectual developmental disorder, autosomal dominant 64Likely pathogenic
(Nov 20, 2019)
criteria provided, single submitter
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