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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:
Chr6:109266102-132388860
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
3.
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
4.
GRCh37:
Chr6:126815679-132818994
GRCh38:
Chr6:126494533-132497855
AKAP7, ARG1, ARHGAP18, C6orf58, CCN2, CCN2-AS1, CTAGE9, ECHDC1, ENPP1, ENPP3, EPB41L2, KIAA0408, L3MBTL3, LAMA2, LINC01013, LOC111365199, LOC113146413, LOC121132706, LOC121132707, LOC121740666, LOC123864063, LOC123864064, LOC123864065, LOC123864066, LOC123864067, LOC123864068, LOC123864069, LOC123864070, LOC123864071, LOC126859780, LOC126859781, LOC126859782, LOC126859783, LOC126859784, LOC126859785, LOC126859786, LOC126859787, LOC126859788, LOC126859789, LOC126859790, LOC126859791, LOC129389644, LOC129389645, LOC129389646, LOC129389647, 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, LOC132089333, LOC132089334, LOC132089335, LOC132089336, LOC132089337, LOC132089338, LOC132089339, LOC132089340, LOC132090768, MED23, MIR548AJ1, MIR548H5, MOXD1, MTCL3, OR2A4, PTPRK, PTPRK-AS1, RNF146, RSPO3, SAMD3, SMLR1, SOGA3-KIAA0408, STX7, THEMIS, TMEM200A, TMEM244
See casesLikely pathogenic
(Oct 24, 2012)
no assertion criteria provided
5.
GRCh37:
Chr6:129512458-132452760
GRCh38:
Chr6:129191313-132131620
See casesLikely pathogenic
(Mar 18, 2014)
no assertion criteria provided
6.
GRCh38:
Chr6:131688637-132215008
Arterial calcification, generalized, of infancy, 1Pathogenic
(Mar 16, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr6:132128840
GRCh38:
Chr6:131807700
ENPP1not providedBenign
(May 17, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr6:132128972
GRCh38:
Chr6:131807832
ENPP1not providedLikely benign
(Oct 16, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr6:132129116
GRCh38:
Chr6:131807976
ENPP1not providedLikely benign
(May 12, 2021)
criteria provided, single submitter
10.
GRCh37:
Chr6:132129141
GRCh38:
Chr6:131808001
ENPP1not providedLikely benign
(Aug 11, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr6:132129152
GRCh38:
Chr6:131808012
ENPP1Arterial calcification, generalized, of infancy, 1, Hypophosphatemic Rickets, RecessiveLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr6:132129163
GRCh38:
Chr6:131808023
ENPP1not provided, Arterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2
Conflicting interpretations of pathogenicity
(Aug 30, 2018)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr6:132129166
GRCh38:
Chr6:131808026
ENPP1not specified, not provided, Arterial calcification, generalized, of infancy, 1,
Hypophosphatemic rickets, autosomal recessive, 2
Conflicting interpretations of pathogenicity
(Apr 16, 2019)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr6:132129176
GRCh38:
Chr6:131808036
ENPP1M1VInborn genetic diseases, not providedUncertain significance
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr6:132129185
GRCh38:
Chr6:131808045
ENPP1D4NArterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr6:132129195-132129196
GRCh38:
Chr6:131808055-131808056
ENPP1G10fsArterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2Pathogenic
(Mar 16, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr6:132129196
GRCh38:
Chr6:131808056
ENPP1Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr6:132129201
GRCh38:
Chr6:131808061
ENPP1G9Dnot providedUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr6:132129202
GRCh38:
Chr6:131808062
ENPP1not providedConflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
20.
GRCh37:
Chr6:132129230
GRCh38:
Chr6:131808090
ENPP1A19Tnot providedUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr6:132129262
GRCh38:
Chr6:131808122
ENPP1not providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr6:132129263
GRCh38:
Chr6:131808123
ENPP1D30YENPP1-related conditionUncertain significance
(Nov 22, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr6:132129278
GRCh38:
Chr6:131808138
ENPP1H35YInborn genetic diseasesUncertain significance
(Jun 21, 2023)
criteria provided, single submitter
24.
GRCh37:
Chr6:132129293
GRCh38:
Chr6:131808153
ENPP1P40Tnot providedLikely benign
(Feb 11, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr6:132129295
GRCh38:
Chr6:131808155
ENPP1not providedLikely benign
(Apr 5, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr6:132129311
GRCh38:
Chr6:131808171
ENPP1A46Snot providedUncertain significance
(Jun 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr6:132129320
GRCh38:
Chr6:131808180
ENPP1L49Mnot providedUncertain significance
(Aug 20, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr6:132129329
GRCh38:
Chr6:131808189
ENPP1P52Snot provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr6:132129330
GRCh38:
Chr6:131808190
ENPP1P52LInborn genetic diseasesUncertain significance
(May 26, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr6:132129332
GRCh38:
Chr6:131808192
ENPP1M53VHypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr6:132129340
GRCh38:
Chr6:131808200
ENPP1not providedLikely benign
(Jan 10, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr6:132129340
GRCh38:
Chr6:131808200
ENPP1not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Oct 21, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr6:132129365-132129366
GRCh38:
Chr6:131808225-131808226
ENPP1A66fsArterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
Pathogenic
(Mar 16, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr6:132129372
GRCh38:
Chr6:131808232
ENPP1A66Vnot providedUncertain significance
(Jun 18, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr6:132129374
GRCh38:
Chr6:131808234
ENPP1R67GENPP1-related condition, not providedUncertain significance
(Dec 9, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr6:132129378
GRCh38:
Chr6:131808238
ENPP1T68NInborn genetic diseasesUncertain significance
(Aug 15, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr6:132129383
GRCh38:
Chr6:131808243
ENPP1K70*Arterial calcification, generalized, of infancy, 1Pathogenic
(Mar 16, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr6:132129385
GRCh38:
Chr6:131808245
ENPP1not providedLikely benign
(Sep 18, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr6:132129389
GRCh38:
Chr6:131808249
ENPP1P72SHypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr6:132129394
GRCh38:
Chr6:131808254
ENPP1N73KInborn genetic diseasesUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr6:132129404
GRCh38:
Chr6:131808264
ENPP1V77Inot providedUncertain significance
(May 15, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr6:132129411
GRCh38:
Chr6:131808271
ENPP1S79Lnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr6:132129423
GRCh38:
Chr6:131808283
ENPP1not providedLikely benign
(Dec 22, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr6:132168778
GRCh38:
Chr6:131847638
ENPP1not providedBenign
(Aug 30, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr6:132168948
GRCh38:
Chr6:131847808
ENPP1not providedLikely benign
(May 27, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr6:132168957
GRCh38:
Chr6:131847817
ENPP1I94Mnot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr6:132168961
GRCh38:
Chr6:131847821
ENPP1not providedPathogenic
(Apr 14, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr6:132168968
GRCh38:
Chr6:131847828
ENPP1K98RInborn genetic diseasesUncertain significance
(Jul 2, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr6:132168995-132168996
GRCh38:
Chr6:131847855-131847856
ENPP1not provided, Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus,
Obesity, Hypophosphatemic rickets, autosomal recessive, 2, Hypopigmentation-punctate palmoplantar keratoderma syndrome
Benign/Likely benign
(Jul 26, 2021)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity, Hypophosphatemic rickets, autosomal recessive, 2,
Type II diabetes mellitus, Arterial calcification, generalized, of infancy, 1, not provided
Likely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr6:132168996-132168998
GRCh38:
Chr6:131847856-131847858
ENPP1not providedLikely benign
(Jun 29, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1not providedUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1not providedBenign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr6:132168997-132169003
GRCh38:
Chr6:131847856-131847862
ENPP1not specifiedLikely benign
(Jun 14, 2017)
criteria provided, single submitter
56.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1Hypophosphatemic Rickets, Recessive, not provided, not specified,
Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Oct 16, 2021)
criteria provided, conflicting interpretations
57.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1Hypophosphatemic Rickets, Recessive, not provided, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1Hypophosphatemic Rickets, Recessive, not provided, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Oct 3, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1Hypophosphatemic Rickets, Recessive, not provided, not specified,
Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr6:132168996-132168997
GRCh38:
Chr6:131847856-131847857
ENPP1Hypophosphatemic Rickets, Recessive, not provided, Arterial calcification, generalized, of infancy, 1
Uncertain significance
(Apr 29, 2021)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr6:132168996
GRCh38:
Chr6:131847856
ENPP1not specifiedBenign
(Jan 17, 2015)
criteria provided, single submitter
62.
GRCh37:
Chr6:132168997-132169004
GRCh38:
Chr6:131847857-131847864
ENPP1not providedLikely benign
(Mar 29, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr6:132168997
GRCh38:
Chr6:131847857
ENPP1Hypophosphatemic rickets, autosomal recessive, 2, not provided, Arterial calcification, generalized, of infancy, 1
Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr6:132168997-132169002
GRCh38:
Chr6:131847857-131847862
ENPP1Hypophosphatemic Rickets, Recessive, not provided, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Oct 24, 2022)
criteria provided, conflicting interpretations
65.
GRCh37:
Chr6:132168997-132169000
GRCh38:
Chr6:131847857-131847860
ENPP1Hypophosphatemic Rickets, Recessive, not provided, not specified,
Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
66.
GRCh37:
Chr6:132168997-132168998
GRCh38:
Chr6:131847857-131847858
ENPP1Hypophosphatemic Rickets, Recessive, not provided, Arterial calcification, generalized, of infancy, 1
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr6:132168998
GRCh38:
Chr6:131847858
ENPP1Hypophosphatemic rickets, autosomal recessive, 2, not provided, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Jul 14, 2021)
criteria provided, conflicting interpretations
68.
GRCh37:
Chr6:132168998
GRCh38:
Chr6:131847858
ENPP1not providedUncertain significance
(Feb 10, 2017)
criteria provided, single submitter
69.
GRCh37:
Chr6:132168999-132169001
GRCh38:
Chr6:131847859-131847861
ENPP1not providedBenign
(Sep 14, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr6:132168999-132169003
GRCh38:
Chr6:131847859-131847863
ENPP1Hypopigmentation-punctate palmoplantar keratoderma syndrome, Obesity, Hypophosphatemic rickets, autosomal recessive, 2,
Arterial calcification, generalized, of infancy, 1, Type II diabetes mellitus, Hypophosphatemic rickets, autosomal recessive, 2
Benign
(Aug 9, 2021)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr6:132168999
GRCh38:
Chr6:131847859
ENPP1Arterial calcification, generalized, of infancy, 1, not provided, Hypophosphatemic rickets, autosomal recessive, 2
Conflicting interpretations of pathogenicity
(Jan 4, 2022)
criteria provided, conflicting interpretations
72.
GRCh37:
Chr6:132169001
GRCh38:
Chr6:131847861
ENPP1not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Oct 25, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr6:132169003
GRCh38:
Chr6:131847863
ENPP1not provided, Hypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1
Conflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr6:132169004
GRCh38:
Chr6:131847864
ENPP1not providedLikely benign
(Mar 8, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr6:132169005
GRCh38:
Chr6:131847865
ENPP1not providedLikely benign
(Mar 26, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr6:132169007
GRCh38:
Chr6:131847867
ENPP1not providedLikely benign
(Nov 11, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr6:132170784
GRCh38:
Chr6:131849644
ENPP1not providedBenign
(Oct 24, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr6:132171006
GRCh38:
Chr6:131849866
ENPP1not providedLikely benign
(May 17, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr6:132171066
GRCh38:
Chr6:131849926
ENPP1not providedBenign
(Dec 17, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr6:132171113
GRCh38:
Chr6:131849973
ENPP1not providedLikely benign
(Jan 26, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr6:132171114
GRCh38:
Chr6:131849974
ENPP1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr6:132171120-132171121
GRCh38:
Chr6:131849980-131849981
ENPP1not providedBenign
(Aug 16, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr6:132171139
GRCh38:
Chr6:131849999
ENPP1C108FArterial calcification, generalized, of infancy, 1, Hypophosphatemic rickets, autosomal recessive, 2Likely pathogenic
(Jun 28, 2017)
criteria provided, single submitter
84.
GRCh37:
Chr6:132171148
GRCh38:
Chr6:131850008
ENPP1R111HHypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr6:132171175
GRCh38:
Chr6:131850035
ENPP1C120Snot providedLikely pathogenic
(Jan 12, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr6:132171186
GRCh38:
Chr6:131850046
ENPP1A124TInborn genetic diseases, not providedUncertain significance
(Aug 29, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr6:132171189
GRCh38:
Chr6:131850049
ENPP1A125Tnot providedUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr6:132171199
GRCh38:
Chr6:131850059
ENPP1E128Vnot providedUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr6:132171229
GRCh38:
Chr6:131850089
ENPP1E138Gnot providedUncertain significance
(Feb 27, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr6:132171235
GRCh38:
Chr6:131850095
ENPP1C140Fnot providedUncertain significance
(Apr 4, 2022)
no assertion criteria provided
91.
GRCh37:
Chr6:132171246
GRCh38:
Chr6:131850106
ENPP1Hypophosphatemic rickets, autosomal recessive, 2Pathogenic
(Sep 19, 2017)
criteria provided, single submitter
92.
GRCh37:
Chr6:132171249
GRCh38:
Chr6:131850109
ENPP1not providedUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr6:132171259
GRCh38:
Chr6:131850119
ENPP1not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr6:132171261
GRCh38:
Chr6:131850121
ENPP1not providedLikely benign
(Apr 9, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr6:132172187
GRCh38:
Chr6:131851047
ENPP1not providedBenign
(Mar 29, 2019)
criteria provided, single submitter
96.
GRCh37:
Chr6:132172283
GRCh38:
Chr6:131851143
ENPP1E144Dnot providedUncertain significance
(Apr 29, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr6:132172290
GRCh38:
Chr6:131851150
ENPP1W147RInborn genetic diseasesUncertain significance
(Jul 5, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr6:132172294
GRCh38:
Chr6:131851154
ENPP1T148SHypophosphatemic rickets, autosomal recessive, 2, Arterial calcification, generalized, of infancy, 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr6:132172297
GRCh38:
Chr6:131851157
ENPP1C149SHypopigmentation-punctate palmoplantar keratoderma syndromePathogenic
(Oct 3, 2013)
no assertion criteria provided
100.
GRCh37:
Chr6:132172335
GRCh38:
Chr6:131851195
ENPP1S162GENPP1-related condition, Arterial calcification, generalized, of infancy, 1Uncertain significance
(Oct 11, 2022)
criteria provided, multiple submitters, no conflicts
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