U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 837

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.
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
3.
GRCh37:
Chr6:133562508
GRCh38:
Chr6:133241370
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr6:133562523
GRCh38:
Chr6:133241385
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr6:133562545
GRCh38:
Chr6:133241407
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr6:133562597
GRCh38:
Chr6:133241459
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr6:133562627
GRCh38:
Chr6:133241489
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr6:133562697
GRCh38:
Chr6:133241559
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:133562709
GRCh38:
Chr6:133241571
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr6:133562723-133562724
GRCh38:
Chr6:133241585-133241586
EYA4Nonsyndromic Hearing Loss, Dominant, Dilated Cardiomyopathy, DominantLikely benign
(Jun 14, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr6:133562829
GRCh38:
Chr6:133241691
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr6:133562877
GRCh38:
Chr6:133241739
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10Benign
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr6:133595571
GRCh38:
Chr6:133274433
EYA4not providedBenign
(Sep 18, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr6:133595684
GRCh38:
Chr6:133274546
EYA4not providedBenign
(Sep 4, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr6:133595905
GRCh38:
Chr6:133274767
EYA4not specifiedUncertain significance
(Mar 2, 2020)
criteria provided, single submitter
16.
GRCh37:
Chr6:133595920
GRCh38:
Chr6:133274782
EYA4M1TCardiovascular phenotype, not provided, Dilated cardiomyopathy 1J
Uncertain significance
(May 15, 2023)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr6:133595923
GRCh38:
Chr6:133274785
EYA4E2GDilated cardiomyopathy 1J, Cardiovascular phenotypeUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr6:133595925
GRCh38:
Chr6:133274787
EYA4D3NInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
19.
GRCh37:
Chr6:133595927
GRCh38:
Chr6:133274789
EYA4Cardiovascular phenotype, not specified, Dilated cardiomyopathy 1J
Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr6:133595930
GRCh38:
Chr6:133274792
EYA4Cardiovascular phenotypeLikely benign
(May 22, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr6:133595934
GRCh38:
Chr6:133274796
EYA4D6NCardiovascular phenotype, Dilated cardiomyopathy 1JUncertain significance
(May 18, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr6:133595944
GRCh38:
Chr6:133274806
EYA4E9Anot provided, Dilated cardiomyopathy 1JUncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr6:133595948
GRCh38:
Chr6:133274810
EYA4Dilated cardiomyopathy 1JUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr6:133595950
GRCh38:
Chr6:133274812
EYA4S11LDilated cardiomyopathy 1J, Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10
Uncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr6:133595951
GRCh38:
Chr6:133274813
EYA4Dilated cardiomyopathy 1JUncertain significance
(Dec 24, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr6:133595953
GRCh38:
Chr6:133274815
EYA4Dilated cardiomyopathy 1JLikely pathogenic
(Mar 11, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr6:133595956
GRCh38:
Chr6:133274818
EYA4Cardiovascular phenotypeUncertain significance
(Jul 2, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr6:133595956
GRCh38:
Chr6:133274818
EYA4Dilated cardiomyopathy 1JUncertain significance
(Feb 25, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr6:133595962
GRCh38:
Chr6:133274824
EYA4Dilated cardiomyopathy 1JLikely benign
(Nov 24, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr6:133595963
GRCh38:
Chr6:133274825
EYA4Dilated cardiomyopathy 1JLikely benign
(May 6, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr6:133595970
GRCh38:
Chr6:133274832
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 25, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:133595988
GRCh38:
Chr6:133274850
EYA4not providedLikely benign
(Sep 18, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr6:133596217
GRCh38:
Chr6:133275079
EYA4not providedBenign
(Sep 11, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr6:133596227
GRCh38:
Chr6:133275089
EYA4not providedBenign
(Aug 31, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr6:133703325
GRCh38:
Chr6:133382187
EYA4not providedBenign
(Aug 31, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr6:133703514
GRCh38:
Chr6:133382376
EYA4Dilated cardiomyopathy 1JLikely benign
(Oct 9, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr6:133703532
GRCh38:
Chr6:133382394
EYA4Dilated cardiomyopathy 1JLikely benign
(Feb 17, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr6:133703533
GRCh38:
Chr6:133382395
EYA4K13ECardiovascular phenotype, Dilated cardiomyopathy 1JUncertain significance
(Nov 15, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr6:133703534
GRCh38:
Chr6:133382396
EYA4K13RDilated cardiomyopathy 1JUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr6:133703535
GRCh38:
Chr6:133382397
EYA4K13NDilated cardiomyopathy 1JUncertain significance
(Jun 7, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:133703536
GRCh38:
Chr6:133382398
EYA4K14EInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr6:133703539
GRCh38:
Chr6:133382401
EYA4T15ADilated cardiomyopathy 1J, Cardiovascular phenotypeUncertain significance
(Feb 14, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr6:133703540
GRCh38:
Chr6:133382402
EYA4T15KDilated cardiomyopathy 1JUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr6:133703540
GRCh38:
Chr6:133382402
EYA4T15MDilated cardiomyopathy 1JUncertain significance
(Jan 17, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr6:133703541
GRCh38:
Chr6:133382403
EYA4Dilated cardiomyopathy 1JLikely benign
(Oct 8, 2021)
criteria provided, single submitter
46.
GRCh37:
Chr6:133703547
GRCh38:
Chr6:133382409
EYA4Dilated cardiomyopathy 1J, Cardiovascular phenotypeLikely benign
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr6:133703550
GRCh38:
Chr6:133382412
EYA4Cardiovascular phenotypeLikely benign
(Jul 12, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr6:133703555
GRCh38:
Chr6:133382417
EYA4D20GDilated cardiomyopathy 1JUncertain significance
(Oct 27, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr6:133703557
GRCh38:
Chr6:133382419
EYA4V21fsDilated cardiomyopathy 1JPathogenic
(Jul 13, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr6:133703558
GRCh38:
Chr6:133382420
EYA4V21GDilated cardiomyopathy 1J, not providedUncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr6:133703562
GRCh38:
Chr6:133382424
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 8, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr6:133703563
GRCh38:
Chr6:133382425
EYA4Q23*Dilated cardiomyopathy 1JPathogenic
(May 21, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr6:133703565
GRCh38:
Chr6:133382427
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 26, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:133703584
GRCh38:
Chr6:133382446
EYA4Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10, Dilated cardiomyopathy 1J
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr6:133703585
GRCh38:
Chr6:133382447
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 21, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr6:133703585
GRCh38:
Chr6:133382447
EYA4Dilated cardiomyopathy 1JUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr6:133703599
GRCh38:
Chr6:133382461
EYA4Dilated cardiomyopathy 1JLikely benign
(Sep 23, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr6:133703599
GRCh38:
Chr6:133382461
EYA4Dilated cardiomyopathy 1JLikely benign
(Jun 8, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr6:133703698
GRCh38:
Chr6:133382560
EYA4not providedBenign
(Sep 11, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr6:133703854
GRCh38:
Chr6:133382716
EYA4not providedLikely benign
(Sep 29, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr6:133767485
GRCh38:
Chr6:133446347
EYA4not providedLikely benign
(Oct 22, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr6:133767532
GRCh38:
Chr6:133446394
EYA4not providedBenign
(Sep 6, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr6:133767748-133804273
GRCh38:
Chr6:133446610-133483135
EYA4Dilated cardiomyopathy 1JUncertain significance
(Feb 19, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr6:133767759
GRCh38:
Chr6:133446621
EYA4Dilated cardiomyopathy 1JLikely benign
(May 5, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr6:133767764
GRCh38:
Chr6:133446626
EYA4Cardiovascular phenotypeLikely benign
(Aug 9, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr6:133767768
GRCh38:
Chr6:133446630
EYA4R28SCardiovascular phenotypeUncertain significance
(Mar 26, 2023)
criteria provided, single submitter
67.
GRCh37:
Chr6:133767770
GRCh38:
Chr6:133446632
EYA4S29CDilated cardiomyopathy 1JUncertain significance
(Mar 5, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr6:133767772
GRCh38:
Chr6:133446634
EYA4M30LDilated cardiomyopathy 1JUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr6:133767773
GRCh38:
Chr6:133446635
EYA4M30TInborn genetic diseasesUncertain significance
(Sep 22, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr6:133767773
GRCh38:
Chr6:133446635
EYA4M30RDilated cardiomyopathy 1JUncertain significance
(Mar 3, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr6:133767773
GRCh38:
Chr6:133446635
EYA4M30KCardiovascular phenotype, Dilated cardiomyopathy 1JUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr6:133767780
GRCh38:
Chr6:133446642
EYA4M32Inot specifiedUncertain significance
(Apr 2, 2020)
criteria provided, single submitter
73.
GRCh37:
Chr6:133767782
GRCh38:
Chr6:133446644
EYA4Q33PDilated cardiomyopathy 1J, Cardiovascular phenotypeUncertain significance
(Jan 18, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr6:133767787
GRCh38:
Chr6:133446649
EYA4L35Vnot specified, Cardiovascular phenotype, Dilated cardiomyopathy 1J
Conflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
75.
GRCh37:
Chr6:133767787
GRCh38:
Chr6:133446649
EYA4not specified, not provided, Autosomal dominant nonsyndromic hearing loss 10,
Dilated cardiomyopathy 1J
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr6:133767795
GRCh38:
Chr6:133446657
EYA4not specified, not provided, Autosomal dominant nonsyndromic hearing loss 10,
Dilated cardiomyopathy 1J
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr6:133767803
GRCh38:
Chr6:133446665
EYA4T40ICardiovascular phenotypeUncertain significance
(Feb 3, 2023)
criteria provided, single submitter
78.
GRCh37:
Chr6:133767808
GRCh38:
Chr6:133446670
EYA4V42Lnot providedUncertain significance
(Mar 13, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr6:133767815
GRCh38:
Chr6:133446677
EYA4G44DCardiovascular phenotype, not providedUncertain significance
(Mar 26, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr6:133767821
GRCh38:
Chr6:133446683
EYA4D46GCardiovascular phenotype, Dilated cardiomyopathy 1JUncertain significance
(Jun 19, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr6:133767825
GRCh38:
Chr6:133446687
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 28, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:133767832
GRCh38:
Chr6:133446694
EYA4S50CCardiovascular phenotype, Dilated cardiomyopathy 1J, Autosomal dominant nonsyndromic hearing loss 10,
Dilated cardiomyopathy 1J
Uncertain significance
(May 4, 2023)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr6:133767836
GRCh38:
Chr6:133446698
EYA4S51Fnot provided, Dilated cardiomyopathy 1J, Cardiovascular phenotype
Uncertain significance
(May 30, 2023)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr6:133767839
GRCh38:
Chr6:133446701
EYA4K52TCardiovascular phenotype, not provided, Dilated cardiomyopathy 1J
Uncertain significance
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr6:133767842
GRCh38:
Chr6:133446704
EYA4L53PDilated cardiomyopathy 1JUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:133767845
GRCh38:
Chr6:133446707
EYA4E54VCardiovascular phenotypeUncertain significance
(Oct 16, 2021)
criteria provided, single submitter
87.
GRCh37:
Chr6:133767856
GRCh38:
Chr6:133446718
EYA4L58IDilated cardiomyopathy 1JUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:133767863
GRCh38:
Chr6:133446725
EYA4S60ICardiovascular phenotypeUncertain significance
(Nov 26, 2012)
criteria provided, single submitter
89.
GRCh37:
Chr6:133767866
GRCh38:
Chr6:133446728
EYA4T61IDilated cardiomyopathy 1J, not provided, Autosomal dominant nonsyndromic hearing loss 10
Uncertain significance
(Jun 13, 2023)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr6:133767875
GRCh38:
Chr6:133446737
EYA4T64SInborn genetic diseasesUncertain significance
(Dec 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr6:133767876
GRCh38:
Chr6:133446738
EYA4Cardiovascular phenotypeLikely benign
(Apr 12, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr6:133767881
GRCh38:
Chr6:133446743
EYA4N66SDilated cardiomyopathy 1JUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr6:133767886
GRCh38:
Chr6:133446748
EYA4T68ACardiovascular phenotypeUncertain significance
(Jul 14, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:133767888
GRCh38:
Chr6:133446750
EYA4Dilated cardiomyopathy 1JLikely benign
(Jul 1, 2019)
criteria provided, single submitter
95.
GRCh37:
Chr6:133767895
GRCh38:
Chr6:133446757
EYA4Dilated cardiomyopathy 1JUncertain significance
(Sep 19, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr6:133767899
GRCh38:
Chr6:133446761
EYA4Dilated cardiomyopathy 1JLikely benign
(Oct 20, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr6:133767899
GRCh38:
Chr6:133446761
EYA4Dilated cardiomyopathy 1JLikely benign
(May 2, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr6:133767902
GRCh38:
Chr6:133446764
EYA4Dilated cardiomyopathy 1JLikely benign
(Jan 3, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr6:133768153
GRCh38:
Chr6:133447015
EYA4not providedLikely benign
(Sep 18, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr6:133769120
GRCh38:
Chr6:133447982
EYA4not providedBenign
(Aug 31, 2018)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination