| - GRCh37:
- Chr2:7635254-88005418
- GRCh38:
- Chr2:7495123-87705899
| LOC129933044, LOC129933045, LOC129933046, LOC129933047, LOC129933048, LOC129933049, LOC129933050, LOC129933051, LOC129933052, LOC129933053, LOC129933054, LOC129933055, LOC129933056, LOC129933057, LOC129933058, LOC129933059, LOC129933060, LOC129933061, LOC129933062, LOC129933063, LOC129933064, LOC129933065, LOC129933066, LOC129933067, LOC129933068, LOC129933069, LOC129933070, LOC129933071, LOC129933072, LOC129933073, LOC129933074, LOC129933075, LOC129933076, LOC129933077, LOC129933078, LOC129933079, LOC129933080, LOC129933081, LOC129933082, LOC129933083, LOC129933084, LOC129933085, LOC129933086, LOC129933087, LOC129933088, LOC129933089, LOC129933090, LOC129933091, LOC129933092, LOC129933093, LOC129933094, LOC129933095, LOC129933096, LOC129933097, LOC129933098, LOC129933099, LOC129933100, LOC129933101, LOC129933102, LOC129933103, LOC129933104, LOC129933105, LOC129933106, LOC129933107, LOC129933108, LOC129933109, LOC129933110, LOC129933111, LOC129933112, LOC129933113, LOC129933114, LOC129933115, LOC129933116, LOC129933117, LOC129933118, LOC129933119, LOC129933120, LOC129933121, LOC129933122, LOC129933123, LOC129933124, LOC129933125, LOC129933126, LOC129933127, LOC129933128, LOC129933129, LOC129933130, LOC129933131, LOC129933132, LOC129933133, LOC129933134, LOC129933135, LOC129933136, LOC129933137, LOC129933138, LOC129933139, LOC129933140, LOC129933141, LOC129933142, LOC129933143, LOC129933144, LOC129933145, LOC129933146, LOC129933147, LOC129933148, LOC129933149, LOC129933150, LOC129933151, LOC129933152, LOC129933153, LOC129933154, LOC129933155, LOC129933156, LOC129933157, LOC129933158, LOC129933159, LOC129933160, LOC129933161, LOC129933162, LOC129933163, LOC129933164, LOC129933165, LOC129933166, LOC129933167, LOC129933168, LOC129933169, LOC129933170, LOC129933171, LOC129933172, LOC129933173, LOC129933174, LOC129933175, LOC129933176, LOC129933177, LOC129933178, LOC129933179, LOC129933180, LOC129933181, LOC129933182, LOC129933183, LOC129933184, LOC129933185, LOC129933186, LOC129933187, LOC129933188, LOC129933189, LOC129933190, LOC129933191, LOC129933192, LOC129933193, LOC129933194, LOC129933195, LOC129933196, LOC129933197, LOC129933198, LOC129933199, LOC129933200, LOC129933201, LOC129933202, LOC129933203, LOC129933204, LOC129933205, LOC129933206, LOC129933207, LOC129933208, LOC129933209, LOC129933210, LOC129933211, LOC129933212, LOC129933213, LOC129933214, LOC129933215, LOC129933216, LOC129933217, LOC129933218, LOC129933219, LOC129933220, LOC129933221, LOC129933222, LOC129933223, LOC129933224, LOC129933225, LOC129933226, LOC129933227, LOC129933228, LOC129933229, LOC129933230, LOC129933231, LOC129933232, LOC129933233, LOC129933234, LOC129933235, LOC129933236, LOC129933237, LOC129933238, LOC129933239, LOC129933240, LOC129933241, LOC129933242, LOC129933243, LOC129933244, LOC129933245, LOC129933246, LOC129933247, LOC129933248, LOC129933249, LOC129933250, LOC129933251, LOC129933252, LOC129933253, LOC129933254, LOC129933255, LOC129933256, LOC129933257, LOC129933258, LOC129933259, LOC129933260, LOC129933261, LOC129933262, LOC129933263, LOC129933264, LOC129933265, LOC129933266, LOC129933267, LOC129933268, LOC129933269, LOC129933270, LOC129933271, LOC129933272, LOC129933273, LOC129933274, LOC129933275, LOC129933276, LOC129933277, LOC129933278, LOC129933279, LOC129933280, LOC129933281, LOC129933282, LOC129933283, LOC129933284, LOC129933285, LOC129933286, LOC129933287, LOC129933288, LOC129933289, LOC129933290, LOC129933291, LOC129933292, LOC129933293, LOC129933294, LOC129933295, LOC129933296, LOC129933297, LOC129933298, LOC129933299, LOC129933300, LOC129933301, LOC129933302, LOC129933303, LOC129933304, LOC129933305, LOC129933306, LOC129933307, LOC129933308, LOC129933309, LOC129933310, LOC129933311, LOC129933312, LOC129933313, LOC129933314, LOC129933315, LOC129933316, LOC129933317, LOC129933318, LOC129933319, LOC129933320, LOC129933321, LOC129933322, LOC129933323, LOC129933324, LOC129933325, LOC129933326, LOC129933327, LOC129933328, LOC129933329, LOC129933330, LOC129933331, LOC129933332, LOC129933333, LOC129933334, LOC129933335, LOC129933336, LOC129933337, LOC129933338, LOC129933339, LOC129933340, LOC129933341, LOC129933342, LOC129933343, LOC129933344, LOC129933345, LOC129933346, LOC129933347, LOC129933348, LOC129933349, LOC129933350, LOC129933351, LOC129933352, LOC129933353, LOC129933354, LOC129933355, LOC129933356, LOC129933357, LOC129933358, LOC129933359, LOC129933360, LOC129933361, LOC129933362, LOC129933363, LOC129933364, LOC129933365, LOC129933366, LOC129933367, LOC129933368, LOC129933369, LOC129933370, LOC129933371, LOC129933372, LOC129933373, LOC129933374, LOC129933375, LOC129933376, LOC129933377, LOC129933378, LOC129933379, LOC129933380, LOC129933381, LOC129933382, LOC129933383, LOC129933384, LOC129933385, LOC129933386, LOC129933387, LOC129933388, LOC129933389, LOC129933390, LOC129933391, LOC129933392, LOC129933393, LOC129933394, LOC129933395, LOC129933396, LOC129933397, LOC129933398, LOC129933399, LOC129933400, LOC129933401, LOC129933402, LOC129933403, LOC129933404, LOC129933405, LOC129933406, LOC129933407, LOC129933408, LOC129933409, LOC129933410, LOC129933411, LOC129933412, LOC129933413, LOC129933414, LOC129933415, LOC129933416, LOC129933417, LOC129933418, LOC129933419, LOC129933420, LOC129933421, LOC129933422, LOC129933423, LOC129933424, LOC129933425, LOC129933426, LOC129933427, LOC129933428, LOC129933429, LOC129933430, LOC129933431, LOC129933432, LOC129933433, LOC129933434, LOC129933435, LOC129933436, LOC129933437, LOC129933438, LOC129933439, LOC129933440, LOC129933441, LOC129933442, LOC129933443, LOC129933444, LOC129933445, LOC129933446, LOC129933447, LOC129933448, LOC129933449, LOC129933450, LOC129933451, LOC129933452, LOC129933453, LOC129933454, LOC129933455, LOC129933456, LOC129933457, LOC129933458, LOC129933459, LOC129933460, LOC129933461, LOC129933462, LOC129933463, LOC129933464, LOC129933465, LOC129933466, LOC129933467, LOC129933468, LOC129933469, LOC129933470, LOC129933471, LOC129933472, LOC129933473, LOC129933474, LOC129933475, LOC129933476, LOC129933477, LOC129933478, LOC129933479, LOC129933480, LOC129933481, LOC129933482, LOC129933483, LOC129933484, LOC129933485, LOC129933486, LOC129933487, LOC129933488, LOC129933489, LOC129933490, LOC129933491, LOC129933492, LOC129933493, LOC129933494, LOC129933495, LOC129933496, LOC129933497, LOC129933498, LOC129933499, LOC129933500, LOC129933501, LOC129933502, LOC129933503, LOC129933504, LOC129933505, LOC129933506, LOC129933507, LOC129933508, LOC129933509, LOC129933510, LOC129933511, LOC129933512, LOC129933513, LOC129933514, LOC129933515, LOC129933516, LOC129933518, LOC129933519, LOC129933520, LOC129933521, LOC129933522, LOC129933523, LOC129933524, LOC129933525, LOC129933526, LOC129933527, LOC129933528, LOC129933529, LOC129933530, LOC129933531, LOC129933532, LOC129933533, LOC129933534, LOC129933535, LOC129933536, LOC129933537, LOC129933538, LOC129933539, LOC129933540, LOC129933541, LOC129933542, LOC129933543, LOC129933544, LOC129933545, LOC129933546, LOC129933547, LOC129933548, LOC129933549, LOC129933550, LOC129933551, LOC129933552, LOC129933553, LOC129933554, LOC129933555, LOC129933556, LOC107985792, LOC107985856, LOC108021854, LOC108021855, LOC108167315, LOC108281131, LOC108281152, LOC110120598, LOC110120611, LOC110120665, LOC110120667, LOC110120668, LOC110120669, LOC110120696, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121039, LOC110121045, LOC110121071, LOC110121121, LOC110121122, LOC110121131, LOC110121136, LOC110121178, LOC110121222, LOC110121235, LOC110121243, LOC110121268, LOC110121308, LOC110599580, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, LOC111465020, LOC111556161, LOC111776219, LOC111776220, LOC111828513, LOC112806042, LOC112806072, LOC112840907, LOC112840916, LOC112840917, LOC112840921, LOC112840922, LOC112840923, LOC112840924, LOC112840925, LOC112840926, LOC112840927, LOC112840929, LOC112840930, LOC112840931, LOC112840932, LOC112840935, LOC112840936, LOC112840937, LOC112840938, LOC112840939, LOC112840940, LOC112840941, LOC112840942, LOC112840943, LOC112841579, LOC112841580, LOC112841582, LOC112841589, LOC112841592, LOC112841595, LOC112841596, LOC112841597, LOC112841598, LOC112841599, LOC112841600, LOC112841601, LOC112841602, LOC112841603, LOC112841604, LOC112841605, LOC114004370, LOC114004372, LOC114004373, LOC114827832, LOC114827836, LOC114827839, LOC115804257, LOC115804258, LOC115804259, LOC115804260, LOC115804261, LOC115945147, LOC115945149, LOC115945150, LOC115945151, LOC115945152, LOC115945153, LOC115945154, LOC115945155, LOC115945156, LOC115945157, LOC115945158, LOC115945159, LOC115945160, LOC115945161, LOC115945162, LOC115945164, LOC115945183, LOC120961742, LOC120961743, LOC120961744, LOC120961745, LOC120961746, LOC120961747, LOC120961748, LOC120961749, LOC120961750, LOC120961751, LOC120961752, LOC120961753, LOC120961754, LOC120961755, LOC120961756, LOC120961757, LOC120961758, LOC120961759, LOC120961760, LOC120961761, LOC120961762, LOC120961763, LOC120961764, LOC120961765, LOC120961766, LOC120961767, LOC120961768, LOC121725079, LOC121725080, LOC121725081, LOC121725082, LOC121725083, LOC121725084, LOC121725085, LOC121725086, LOC121725087, LOC121725088, LOC121725089, LOC121725090, LOC121725091, LOC121725092, LOC121725093, LOC121725094, LOC121725095, LOC121725096, LOC121725097, LOC122710289, LOC122756371, LOC122756372, LOC122756373, LOC122756374, LOC122756375, LOC122756376, LOC122756377, LOC122756378, LOC122756379, LOC122756380, LOC122756381, LOC122756382, LOC122756383, LOC122756384, LOC122756385, LOC122756386, LOC122756387, LOC122756388, LOC122756389, LOC122756390, LOC122756391, LOC122756392, LOC122756393, LOC122756667, LOC122756668, LOC122756669, LOC122756670, LOC122756671, LOC122756672, LOC122756673, LOC122756674, LOC122756675, LOC122756676, LOC122756677, LOC122756678, LOC122756679, LOC122756680, LOC122756681, LOC122756682, LOC122756683, LOC122756684, LOC122756685, LOC122756686, LOC122756687, LOC122756688, LOC122756689, LOC122756690, LOC122756691, LOC122757916, LOC122757917, LOC122757918, LOC122757919, LOC122757920, LOC122757921, LOC122757922, LOC122757923, LOC122757924, LOC122757925, LOC122757926, LOC122757927, LOC122757928, LOC122757929, LOC122757930, LOC122757931, LOC122757932, LOC122757933, LOC122757934, LOC122757935, LOC122757936, LOC122757937, LOC122757938, LOC122757939, LOC122757940, LOC122757941, LOC122757942, LOC122757943, LOC122757944, LOC122757945, LOC122757946, LOC122757947, LOC122757948, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC122757955, LOC122757956, LOC122757957, LOC122757958, LOC122757959, LOC122757960, LOC122757961, LOC122757962, LOC122757963, LOC122757964, LOC122757965, LOC122757966, LOC122787130, LOC122787131, LOC122787132, LOC122787133, LOC122787134, LOC122787135, LOC122787136, LOC122787137, LOC122787138, LOC122787139, LOC122787140, LOC122787141, LOC122787142, LOC122787143, LOC122787144, LOC122787145, LOC122787146, LOC122787147, LOC122787148, LOC126264115, LOC126806123, LOC126806124, LOC126806125, LOC126806126, LOC126806127, LOC126806128, LOC126806129, LOC126806130, LOC126806131, LOC126806132, LOC126806133, LOC126806134, LOC126806135, LOC126806136, LOC126806137, LOC126806138, LOC126806139, LOC126806140, LOC126806141, LOC126806142, LOC126806143, LOC126806144, LOC126806145, LOC126806146, LOC126806147, LOC126806148, LOC126806149, LOC126806150, LOC126806151, LOC126806152, LOC126806153, LOC126806154, LOC126806155, LOC126806156, LOC126806157, LOC126806158, LOC126806159, LOC126806160, LOC126806161, LOC126806162, LOC126806163, LOC126806164, LOC126806165, LOC126806166, LOC126806167, LOC126806168, LOC126806169, LOC126806170, LOC126806171, LOC126806172, LOC126806173, LOC126806174, LOC126806175, LOC126806176, LOC126806177, LOC126806178, LOC126806179, LOC126806180, LOC126806181, LOC126806182, LOC126806183, LOC126806184, LOC126806185, LOC126806186, LOC126806187, LOC126806188, LOC126806189, LOC126806190, LOC126806191, LOC126806192, LOC126806193, LOC126806194, LOC126806195, LOC126806196, LOC126806197, LOC126806198, LOC126806199, LOC126806200, LOC126806201, LOC126806202, LOC126806203, LOC126806204, LOC126806205, LOC126806206, LOC126806207, LOC126806208, LOC126806209, LOC126806210, LOC126806211, LOC126806212, LOC126806213, LOC126806214, LOC126806215, LOC126806216, LOC126806217, LOC126806218, LOC126806219, LOC126806220, LOC126806221, LOC126806222, LOC126806223, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC126806228, LOC126806229, LOC126806230, LOC126806231, LOC126806232, LOC126806233, LOC126806234, LOC126806235, LOC126806236, LOC126806237, LOC126806238, LOC126806239, LOC126806240, LOC126806241, LOC126806242, LOC126806243, LOC126806244, LOC126806245, LOC126806246, LOC126806247, LOC126806248, LOC126806249, LOC126806250, LOC126806251, LOC126806252, LOC126806253, LOC126806254, LOC126806255, LOC126806256, LOC126806257, LOC126806258, LOC126806259, LOC126806260, LOC126806261, LOC126806262, LOC126806263, LOC126806264, LOC126806265, LOC126806266, LOC128772246, LOC128772247, LOC128772248, LOC128772249, LOC128772250, LOC128772251, LOC128772252, LOC128772253, LOC128772254, LOC128897170, LOC128897171, LOC129388817, LOC129388818, LOC129388819, LOC129388820, LOC129388821, LOC129388822, LOC129388823, LOC129388824, LOC129388825, LOC129388826, LOC129388827, LOC129388828, LOC129388829, LOC129388830, LOC129388831, LOC129388832, LOC129388833, LOC129388834, LOC129388835, LOC129388836, LOC129388837, LOC129388838, LOC129388839, LOC129388840, LOC129388841, LOC129388842, LOC129388843, LOC129388844, LOC129388845, LOC129388846, LOC129388847, LOC129388848, LOC129388849, LOC129388850, LOC129388851, LOC129388852, LOC129388853, LOC129388854, LOC129388855, LOC129388856, LOC129388857, LOC129388858, LOC129388859, LOC129388860, LOC129388861, LOC129388862, LOC129388863, LOC129388864, LOC129388865, LOC129388866, LOC129388867, LOC129388868, LOC129388869, LOC129388870, LOC129388871, LOC129388872, LOC129388873, LOC129388874, LOC129388875, LOC129388876, LOC129388877, LOC129388878, LOC129388879, LOC129388880, LOC129388881, LOC129388882, LOC129388883, LOC129388884, LOC129388885, LOC129388886, LOC129388887, LOC129456127, LOC129933025, LOC129933026, LOC129933027, LOC129933028, LOC129933029, LOC129933030, LOC129933031, LOC129933032, LOC129933033, LOC129933034, LOC129933035, LOC129933036, LOC129933037, LOC129933038, LOC129933039, LOC129933040, LOC129933041, LOC129933042, LOC129933043, YIPF4, YPEL5, YWHAQ, ZFP36L2, ZNF512, ZNF513, ZNF638, AAK1, ABCG5, ABCG8, ABHD1, ACTG2, ACTR2, ACYP2, ADAM17, ADCY3, ADD2, ADGRF3, AFTPH, AFTPH-DT, AGBL5, AGBL5-AS1, ALK, ALMS1, ALMS1-IT1, ANKRD53, ANTXR1, ANXA4, APLF, APOB, APOB-ICR, APOB3'MAR, ARHGAP25, ARHGEF33, ASAP2, ASB3, ASPRV1, ASXL2, ATAD2B, ATL2, ATOH8, ATP6V1B1, ATP6V1B1-AS1, ATP6V1C2, ATP6V1E2, ATRAID, AUP1, B3GNT2, BABAM2, BABAM2-AS1, BCL11A, BCYRN1, BIRC6, BIRC6-AS2, BMP10, BOLA3, BOLA3-DT, C1D, C1GALT1C1L, C2orf42, C2orf48, C2orf50, C2orf68, C2orf73, C2orf74, C2orf74-AS1, C2orf74-DT, C2orf78, C2orf81, CAD, CALM2, CAMKMT, CAPG, CAPN13, CAPN14, CCDC121, CCDC142, CCDC85A, CCDC88A, CCT4, CCT7, CD207, CD8A, CD8B, CDC42EP3, CDKL4, CEBPZ, CEBPZOS, CENPA, CENPO, CEP68, CFAP36, CGREF1, CHAC2, CHMP3, CHMP3-AS1, CIB4, CIMIP2C, CLEC4F, CLHC1, CLIP4, CNRIP1, COMMD1, COX7A2L, CPSF3, CRIM1, CRIM1-DT, CRIPT, CTNNA2, CTNNA2-AS1, CYP1B1, CYP1B1-AS1, CYP26B1, CYRIA, CYS1, CYTOR, DCTN1, DCTN1-AS1, DDX1, DGUOK, DGUOK-AS1, DHX57, DNAAF10, DNAH6, DNAJC27, DNAJC27-AS1, DNAJC5G, DNMT3A, DOK1, DPY30, DPYSL5, DQX1, DRC1, DTNB, DTNB-AS1, DUSP11, DYNC2LI1, DYSF, E2F6, EFEMP1, EFR3B, EGR4, EHBP1, EHBP1-AS1, EHD3, EIF2AK2, EIF2B4, ELMOD3, EMILIN1, EML4, EML4-AS1, EML6, EML6-AS1, EMX1, EPAS1, EPCAM, EPCAM-DT, ERLEC1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FAM228A, FAM228B, FAM98A, FANCL, FBXO11, FBXO41, FBXO48, FEZ2, FIGLA, FKBP1B, FLJ33534, FNDC4, FOSL2, FOSL2-AS1, FOXN2, FSHR, GACAT3, GALM, GALNT14, GAREM2, GCFC2, GCKR, GDF7, GEMIN6, GEN1, GFPT1, GGCX, GKN1, GKN2, GMCL1, GNLY, GPATCH11, GPN1, GPR75, GPR75-ASB3, GREB1, GRHL1, GTF2A1L, GTF3C2, GTF3C2-AS1, GTF3C2-AS2, HAAO, HADHA, HADHB, HCNR606, HCNR617, HEATR5B, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HK2-DT, HNRNPLL, HPCAL1, HS1BP3, HS1BP3-IT1, HTRA2, IAH1, ID2, ID2-AS1, IFT172, IMMT, INO80B, INO80B-WBP1, ITGB1BP1, ITSN2, KCMF1, KCNF1, KCNG3, KCNK12, KCNK3, KCNS3, KDM3A, KHK, KIDINS220, KIF3C, KLF11, KLF11-DT, KLHL29, KRTCAP3, LAPTM4A, LAPTM4A-DT, LBH, LBX2, LBX2-AS1, LCLAT1, LDAH, LGALSL, LHCGR, LINC00276, LINC00298, LINC00299, LINC00309, LINC00486, LINC00570, LINC00954, LINC01118, LINC01119, LINC01121, LINC01122, LINC01126, LINC01143, LINC01291, LINC01293, LINC01317, LINC01318, LINC01320, LINC01376, LINC01381, LINC01460, LINC01628, LINC01793, LINC01794, LINC01795, LINC01797, LINC01798, LINC01799, LINC01800, LINC01804, LINC01805, LINC01808, LINC01809, LINC01812, LINC01813, LINC01814, LINC01815, LINC01816, LINC01819, LINC01820, LINC01822, LINC01828, LINC01829, LINC01830, LINC01833, LINC01851, LINC01867, LINC01871, LINC01873, LINC01883, LINC01884, LINC01888, LINC01890, LINC01913, LINC01914, LINC01936, LINC01943, LINC01946, LINC01954, LINC01964, LINC02245, LINC02576, LINC02579, LINC02580, LINC02583, LINC02613, LINC02831, LINC02850, LINC02898, LINC02923, LINC02934, LINC03050, LINC03063, LOC100129434, LOC100271832, LOC100505716, LOC100505736, LOC100505774, LOC100506235, LOC100506405, LOC100506474, LOC100507006, LOC100507562, LOC101927661, LOC101927723, LOC101927948, LOC101927967, LOC101928196, LOC101929551, LOC101929752, LOC102723530, LOC102724542, LOC102724579, LOC105369165, LOC105373414, LOC105373418, LOC105373438, LOC105373461, LOC105374378, LOC105374389, LOC105374769, LOC105374780, LOC105374809, LOC105374811, LOC105374820, LOC106560211, LOC106699567, LOC106728414, LOC106783498, LOC106783504, LOC107457596, LOC107984043, LOC129934069, LOC129934070, LOC129934071, LOC129934072, LOC129934073, LOC129934074, LOC129934075, LOC129934076, LOC129934077, LOC129934078, LOC129934079, LOC129934080, LOC129934081, LOC129934082, LOC129934083, LOC129934084, LOC129934085, LOC129934086, LOC129934087, LOC129934088, LOC129934089, LOC129934090, LOC129934091, LOC129934092, LOC129934093, LOC129934094, LOC129934095, LOC129934096, LOC129934097, LOC129934098, LOC129934099, LOC129934100, LOC129934101, LOC129934102, LOC129934103, LOC129934104, LOC129934105, LOC129934106, LOC129934107, LOC129934108, LOC129934109, LOC129934110, LOC129934111, LOC129934112, LOC129934113, LOC129934114, LOC129934115, LOC129934116, LOC129934117, LOC129934118, LOC129934119, LOC129934120, LOC129934121, LOC129934122, LOC129934123, LOC129934124, LOC129934125, LOC129934126, LOC129934127, LOC129934128, LOC129934129, LOC129934130, LOC129934131, LOC129934132, LOC129934133, LOC129934134, LOC129934135, LOC129934136, LOC129934137, LOC129934138, LOC129934139, LOC129934140, LOC129934141, LOC129934142, LOC129934143, LOC129934144, LOC129934145, LOC129934146, LOC129934147, LOC129934148, LOC129934149, LOC129934150, LOC129934151, LOC129934152, LOC129934153, LOC129934154, LOC129934155, LOC129934156, LOC129934157, LOC129934158, LOC129934159, LOC129934160, LOC129934161, LOC129934162, LOC129934163, LOC129934164, LOC129934165, LOC129934166, LOC129934167, LOC129934168, LOC129934169, LOC129934170, LOC129934171, LOC129934172, LOC129934173, LOC129934174, LOC129934175, LOC129934176, LOC129934177, LOC129934178, LOC129934179, LOC129934180, LOC129934181, LOC129934182, LOC129934183, LOC129934184, LOC129934185, LOC129934186, LOC129934187, LOC129934188, LOC129934189, LOC129934190, LOC129934191, LOC129934192, LOC129934193, LOC129934194, LOC129934195, LOC129934196, LOC129934197, LOC129934198, LOC129934199, LOC129934200, LOC129934201, LOC129934202, LOC129934203, LOC129934204, LOC129934205, LOC129934206, LOC129934207, LOC129934208, LOC129934209, LOC129934210, LOC129934211, LOC129934212, LOC129934213, LOC129934214, LOC129934215, LOC129934216, LOC129934217, LOC129934218, LOC129934219, LOC129934220, LOC129934221, LOC129934222, LOC129934223, LOC129934224, LOC129934225, LOC129934226, LOC129934227, LOC129934228, LOC129934229, LOC129934230, LOC129934231, LOC129934232, LOC129934233, LOC129934234, LOC129934235, LOC129934236, LOC129934237, LOC129934238, LOC129934239, LOC129934240, LOC129934241, LOC129934242, LOC129934243, LOC129934244, LOC129934245, LOC129934246, LOC129934247, LOC129934248, LOC129934249, LOC129934250, LOC129934251, LOC129934252, LOC129934253, LOC129934254, LOC129934255, LOC129934256, LOC129934257, LOC129934258, LOC129934259, LOC129934260, LOC129934261, LOC129934262, LOC129934263, LOC129934264, LOC129934265, LOC129934266, LOC129934267, LOC132088754, LOC132088755, LOC132088756, LOC132088757, LOC132088838, LOC132088840, LOC132088845, LOC132088847, LOC132088848, LOC132088850, LOC132088851, LOC132088852, LOC132088853, LOC132088854, LOC132088855, LOC132088856, LOC132090678, LOC132090679, LOC284950, LOC375196, LOC653602, LOXL3, LPIN1, LRATD1, LRPPRC, LRRTM1, LRRTM4, LRRTM4-AS1, LTBP1, M1AP, MAP4K3, MAP4K3-DT, MAPRE3, MAPRE3-AS1, MAT2A, MATN3, MBOAT2, MCEE, MCFD2, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MEMO1, MFSD2B, MIR1285-2, MIR1301, MIR216A, MIR216B, MIR217, MIR217HG, MIR3125, MIR3126, MIR3681, MIR3681HG, MIR3682, MIR4261, MIR4262, MIR4263, MIR4264, MIR4429, MIR4430, MIR4431, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4435-1, MIR4757, MIR4765, MIR4771-1, MIR4778, MIR4779, MIR5000, MIR5192, MIR548AD, MIR548BA, MIR548S, MIR558, MIR559, MIR6071, MIR8080, MIR8485, MOB1A, MOGS, MORN2, MPHOSPH10, MPV17, MRPL19, MRPL33, MRPL35, MRPL53, MSGN1, MSH2, MSH2-OT1, MSH6, MTA3, MTHFD2, MTIF2, MXD1, MYCN, MYCNOS, MYCNUT, NAGK, NAT8, NAT8B, NBAS, NCAL1, NCOA1, NDUFAF7, NFU1, NLRC4, NOL10, NOTO, NRBP1, NRXN1, NRXN1-DT, NT5C1B, NT5C1B-RDH14, NTSR2, ODC1, ODC1-DT, OSR1, OST4, OTOF, OTX1, OXER1, PAIP2B, PAPOLG, PARTICL, PCARE, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PDIA6, PELI1, PEX13, PFN4, PIGF, PIRAT1, PKDCC, PLB1, PLEK, PLEKHH2, PLGLB1, PNO1, PNPT1, POLE4, POLR1A, POMC, PPM1B, PPM1B-DT, PPM1G, PPP1CB, PPP1R21, PPP3R1, PPP4R3B, PPP4R3B-DT, PRADC1, PREB, PREPL, PRKCE, PRKCE-AS1, PRKD3, PRKD3-DT, PROKR1, PRR30, PSME4, PTCD3, PTRHD1, PUM2, PUS10, QPCT, RAB10, RAB11FIP5, RAB1A, RAD51AP2, RASGRP3, RASGRP3-AS1, RBKS, RDH14, REEP1, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RETSAT, RGPD1, RHOB, RHOQ, RHOQ-AS1, RMDN2, RMDN2-AS1, RMND5A, RNF103, RNF103-CHMP3, RNF181, ROCK2, RPS27A, RRM2, RTKN, RTN4, SANBR, SDC1, SELENOI, SEMA4F, SERTAD2, SF3B6, SFTPB, SFXN5, SH2D6, SIX2, SIX3, SIX3-AS1, SLC1A4, SLC30A3, SLC30A6, SLC30A6-DT, SLC35F6, SLC3A1, SLC4A1AP, SLC4A5, SLC5A6, SLC66A3, SLC8A1, SLC8A1-AS1, SMANTIS, SMC6, SMYD5, SNAR-H, SNORA10B, SNORA36C, SNORA70B, SNORA80B, SNORD53, SNORD53B, SNORD92, SNORD94, SNRNP27, SNRPG, SNX17, SOCS5, SOS1, SOS1-IT1, SPAST, SPATA31H1, SPDYA, SPR, SPRED2, SPTBN1, SPTBN1-AS1, SPTBN1-AS2, SRBD1, SRD5A2, SRSF7, ST3GAL5, ST3GAL5-AS1, STAMBP, STON1, STON1-GTF2A1L, STPG4, STRN, SUCLG1, SULT6B1, SUPT7L, TACR1, TAF1B, TCF23, TCF7L1, TCF7L1-IT1, TDRD15, TET3, TEX261, TGFA, TGFA-IT1, TGOLN2, THADA, THUMPD2, TIA1, TLX2, TMEM150A, TMEM17, TMEM178A, TMEM214, TMEM247, TMSB10, TOGARAM2, TP53I3, TPRKB, TRA-AGC8-1, TRABD2A, TRG-CCC2-1, TRI-TAT2-1, TRIB2, TRIM54, TRMT61B, TRY-GTA2-1, TSPYL6, TTC27, TTC31, TTC32, TTC7A, UBXN2A, UCN, UGP2, USP34, USP34-DT, USP39, VAMP5, VAMP8, VAX2, VIT, VPS54, VRK2, VSNL1, WBP1, WDCP, WDPCP, WDR35, WDR35-DT, WDR43, WDR54, XDH, XPO1, LOC129933557, LOC129933558, LOC129933559, LOC129933560, LOC129933561, LOC129933562, LOC129933563, LOC129933564, LOC129933565, LOC129933566, LOC129933567, LOC129933568, LOC129933569, LOC129933570, LOC129933571, LOC129933572, LOC129933573, LOC129933574, LOC129933575, LOC129933576, LOC129933577, LOC129933578, LOC129933579, LOC129933580, LOC129933581, LOC129933582, LOC129933583, LOC129933584, LOC129933585, LOC129933586, LOC129933587, LOC129933588, LOC129933589, LOC129933590, LOC129933591, LOC129933592, LOC129933593, LOC129933594, LOC129933595, LOC129933596, LOC129933597, LOC129933598, LOC129933599, LOC129933600, LOC129933601, LOC129933602, LOC129933603, LOC129933604, LOC129933605, LOC129933606, LOC129933607, LOC129933608, LOC129933609, LOC129933610, LOC129933611, LOC129933612, LOC129933613, LOC129933614, LOC129933615, LOC129933616, LOC129933617, LOC129933618, LOC129933619, LOC129933620, LOC129933621, LOC129933622, LOC129933623, LOC129933624, LOC129933625, LOC129933626, LOC129933627, LOC129933628, LOC129933629, LOC129933630, LOC129933631, LOC129933632, LOC129933633, LOC129933634, LOC129933635, LOC129933636, LOC129933637, LOC129933638, LOC129933639, LOC129933640, LOC129933641, LOC129933642, LOC129933643, LOC129933644, LOC129933645, LOC129933646, LOC129933647, LOC129933648, LOC129933649, LOC129933650, LOC129933651, LOC129933652, LOC129933653, LOC129933654, LOC129933655, LOC129933656, LOC129933657, LOC129933658, LOC129933659, LOC129933660, LOC129933661, LOC129933662, LOC129933663, LOC129933664, LOC129933665, LOC129933666, LOC129933667, LOC129933668, LOC129933669, LOC129933670, LOC129933671, LOC129933672, LOC129933673, LOC129933674, LOC129933675, LOC129933676, LOC129933677, LOC129933678, LOC129933679, LOC129933680, LOC129933681, LOC129933682, LOC129933683, LOC129933684, LOC129933685, LOC129933686, LOC129933687, LOC129933688, LOC129933689, LOC129933690, LOC129933691, LOC129933692, LOC129933693, LOC129933694, LOC129933695, LOC129933696, LOC129933697, LOC129933698, LOC129933699, LOC129933700, LOC129933701, LOC129933702, LOC129933703, LOC129933704, LOC129933705, LOC129933706, LOC129933707, LOC129933708, LOC129933709, LOC129933710, LOC129933711, LOC129933712, LOC129933713, LOC129933714, LOC129933715, LOC129933716, LOC129933717, LOC129933718, LOC129933719, LOC129933720, LOC129933721, LOC129933722, LOC129933723, LOC129933724, LOC129933725, LOC129933726, LOC129933727, LOC129933728, LOC129933729, LOC129933730, LOC129933731, LOC129933732, LOC129933733, LOC129933734, LOC129933735, LOC129933736, LOC129933737, LOC129933738, LOC129933739, LOC129933740, LOC129933741, LOC129933742, LOC129933743, LOC129933744, LOC129933745, LOC129933746, LOC129933747, LOC129933748, LOC129933749, LOC129933750, LOC129933751, LOC129933752, LOC129933753, LOC129933754, LOC129933755, LOC129933756, LOC129933757, LOC129933758, LOC129933759, LOC129933760, LOC129933761, LOC129933762, LOC129933763, LOC129933764, LOC129933765, LOC129933766, LOC129933767, LOC129933768, LOC129933769, LOC129933770, LOC129933771, LOC129933772, LOC129933773, LOC129933774, LOC129933775, LOC129933776, LOC129933777, LOC129933778, LOC129933779, LOC129933780, LOC129933781, LOC129933782, LOC129933783, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, LOC129933887, LOC129933888, LOC129933889, LOC129933890, LOC129933891, LOC129933892, LOC129933893, LOC129933894, LOC129933895, LOC129933896, LOC129933897, LOC129933898, LOC129933899, LOC129933900, LOC129933901, LOC129933902, LOC129933903, LOC129933904, LOC129933905, LOC129933906, LOC129933907, LOC129933908, LOC129933909, LOC129933910, LOC129933911, LOC129933912, LOC129933913, LOC129933914, LOC129933915, LOC129933916, LOC129933917, LOC129933918, LOC129933919, LOC129933920, LOC129933921, LOC129933922, LOC129933923, LOC129933924, LOC129933925, LOC129933926, LOC129933927, LOC129933928, LOC129933929, LOC129933930, LOC129933931, LOC129933932, LOC129933933, LOC129933934, LOC129933935, LOC129933936, LOC129933937, LOC129933938, LOC129933939, LOC129933940, LOC129933941, LOC129933942, LOC129933943, LOC129933944, LOC129933945, LOC129933946, LOC129933947, LOC129933948, LOC129933949, LOC129933950, LOC129933951, LOC129933952, LOC129933953, LOC129933954, LOC129933955, LOC129933956, LOC129933957, LOC129933958, LOC129933959, LOC129933960, LOC129933961, LOC129933962, LOC129933963, LOC129933964, LOC129933965, LOC129933966, LOC129933967, LOC129933968, LOC129933969, LOC129933970, LOC129933971, LOC129933972, LOC129933973, LOC129933974, LOC129933975, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC129933992, LOC129933993, LOC129933994, LOC129933995, LOC129933996, LOC129933997, LOC129933998, LOC129933999, LOC129934000, LOC129934001, LOC129934002, LOC129934003, LOC129934004, LOC129934005, LOC129934006, LOC129934007, LOC129934008, LOC129934009, LOC129934010, LOC129934011, LOC129934012, LOC129934013, LOC129934014, LOC129934015, LOC129934016, LOC129934017, LOC129934018, LOC129934019, LOC129934020, LOC129934021, LOC129934022, LOC129934023, LOC129934024, LOC129934025, LOC129934026, LOC129934027, LOC129934028, LOC129934029, LOC129934030, LOC129934031, LOC129934032, LOC129934033, LOC129934034, LOC129934035, LOC129934036, LOC129934037, LOC129934038, LOC129934039, LOC129934040, LOC129934041, LOC129934042, LOC129934043, LOC129934044, LOC129934045, LOC129934046, LOC129934047, LOC129934048, LOC129934049, LOC129934050, LOC129934051, LOC129934052, LOC129934053, LOC129934054, LOC129934055, LOC129934056, LOC129934057, LOC129934058, LOC129934059, LOC129934060, LOC129934061, LOC129934062, LOC129934063, LOC129934064, LOC129934065, LOC129934066, LOC129934067, LOC129934068 | | See cases | Benign (Feb 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr2:58259051-63838944
- GRCh38:
- Chr2:58031916-63611810
| B3GNT2, BCL11A, C2orf74, C2orf74-AS1, C2orf74-DT, CCT4, COMMD1, EHBP1, EHBP1-AS1, FAM161A, FANCL, LINC01122, LINC01793, LINC01795, LOC107984043, LOC108281131, LOC110120667, LOC110120668, LOC110120669, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121136, LOC120961760, LOC121725091, LOC122757948, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC129388866, LOC129388867, LOC129388868, LOC129388869, LOC129388870, LOC129388871, LOC129388872, LOC129388873, LOC129933781, LOC129933782, LOC129933783, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, MDH1, MIR4432, MIR4432HG, MIR5192, OTX1, PAPOLG, PEX13, PUS10, REL, REL-DT, SANBR, SNORA70B, TMEM17, USP34, USP34-DT, VRK2, WDPCP, XPO1 | | See cases | Pathogenic (Aug 27, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr2:58506654-83814086
- GRCh38:
- Chr2:58279519-83586962
| AAK1, ACTG2, ACTR2, ADD2, AFTPH, AFTPH-DT, ALMS1, ALMS1-IT1, ANKRD53, ANTXR1, ANXA4, APLF, ARHGAP25, ASPRV1, ATP6V1B1, ATP6V1B1-AS1, AUP1, B3GNT2, BCL11A, BMP10, BOLA3, BOLA3-DT, C1D, C2orf42, C2orf74, C2orf74-AS1, C2orf74-DT, C2orf78, C2orf81, CCDC142, CCT4, CCT7, CD207, CEP68, CLEC4F, CNRIP1, COMMD1, CTNNA2, CTNNA2-AS1, CYP26B1, DCTN1, DCTN1-AS1, DGUOK, DGUOK-AS1, DNAAF10, DOK1, DQX1, DUSP11, DYSF, EGR4, EHBP1, EHBP1-AS1, EMX1, ETAA1, EVA1A, EVA1A-AS, EXOC6B, FAM136A, FAM161A, FBXO41, FBXO48, FIGLA, GCFC2, GFPT1, GKN1, GKN2, GMCL1, HCNR606, HCNR617, HHC2:065915, HHC2:065944, HHC2:066104, HHC2:066522, HHC2:066588, HHC2:066628, HHC2:066644, HHC2:066650, HHC2:066659, HHC2:066683, HHC2:067347, HK2, HK2-DT, HTRA2, INO80B, INO80B-WBP1, LBX2, LBX2-AS1, LGALSL, LINC00309, LINC01122, LINC01143, LINC01291, LINC01293, LINC01628, LINC01793, LINC01795, LINC01797, LINC01798, LINC01799, LINC01800, LINC01805, LINC01809, LINC01812, LINC01815, LINC01816, LINC01828, LINC01829, LINC01851, LINC01873, LINC01888, LINC01890, LINC02245, LINC02576, LINC02579, LINC02831, LINC02934, LINC03050, LOC100507006, LOC101927661, LOC101927723, LOC101927948, LOC101927967, LOC102724542, LOC105374769, LOC105374780, LOC105374809, LOC105374811, LOC105374820, LOC106783504, LOC108021854, LOC108021855, LOC110120611, LOC110120667, LOC110120668, LOC110120669, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120967, LOC110120978, LOC110120979, LOC110120980, LOC110120997, LOC110121003, LOC110121008, LOC110121015, LOC110121018, LOC110121024, LOC110121039, LOC110121121, LOC110121136, LOC110121243, LOC110121268, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, LOC112841582, LOC112841589, LOC112841592, LOC112841595, LOC112841596, LOC112841597, LOC112841598, LOC112841599, LOC112841601, LOC114004373, LOC114827836, LOC115945159, LOC115945160, LOC115945161, LOC120961760, LOC120961761, LOC120961762, LOC120961763, LOC120961764, LOC120961765, LOC120961766, LOC120961767, LOC121725091, LOC121725092, LOC121725093, LOC121725094, LOC121725095, LOC121725096, LOC121725097, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC122757955, LOC122757956, LOC122757957, LOC122757958, LOC122757959, LOC122757960, LOC122757961, LOC122757962, LOC122757963, LOC122757964, LOC122757965, LOC122757966, LOC122787130, LOC122787131, LOC122787132, LOC122787133, LOC122787134, LOC122787135, LOC122787136, LOC122787137, LOC122787138, LOC122787139, LOC122787140, LOC122787141, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC126806228, LOC126806229, LOC126806230, LOC126806231, LOC126806232, LOC126806233, LOC126806234, LOC126806235, LOC126806236, LOC126806237, LOC126806238, LOC126806239, LOC126806240, LOC126806241, LOC126806242, LOC126806243, LOC126806244, LOC126806245, LOC126806246, LOC126806247, LOC126806248, LOC126806249, LOC126806250, LOC126806251, LOC126806252, LOC126806253, LOC126806254, LOC126806255, LOC126806256, LOC126806257, LOC126806258, LOC126806259, LOC129388867, LOC129388868, LOC129388869, LOC129388870, LOC129388871, LOC129388872, LOC129388873, LOC129388874, LOC129388875, LOC129388876, LOC129388877, LOC129388878, LOC129388879, LOC129388880, LOC129388881, LOC129388882, LOC129388883, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, LOC129933887, LOC129933888, LOC129933889, LOC129933890, LOC129933891, LOC129933892, LOC129933893, LOC129933894, LOC129933895, LOC129933896, LOC129933897, LOC129933898, LOC129933899, LOC129933900, LOC129933901, LOC129933902, LOC129933903, LOC129933904, LOC129933905, LOC129933906, LOC129933907, LOC129933908, LOC129933909, LOC129933910, LOC129933911, LOC129933912, LOC129933913, LOC129933914, LOC129933915, LOC129933916, LOC129933917, LOC129933918, LOC129933919, LOC129933920, LOC129933921, LOC129933922, LOC129933923, LOC129933924, LOC129933925, LOC129933926, LOC129933927, LOC129933928, LOC129933929, LOC129933930, LOC129933931, LOC129933932, LOC129933933, LOC129933934, LOC129933935, LOC129933936, LOC129933937, LOC129933938, LOC129933939, LOC129933940, LOC129933941, LOC129933942, LOC129933943, LOC129933944, LOC129933945, LOC129933946, LOC129933947, LOC129933948, LOC129933949, LOC129933950, LOC129933951, LOC129933952, LOC129933953, LOC129933954, LOC129933955, LOC129933956, LOC129933957, LOC129933958, LOC129933959, LOC129933960, LOC129933961, LOC129933962, LOC129933963, LOC129933964, LOC129933965, LOC129933966, LOC129933967, LOC129933968, LOC129933969, LOC129933970, LOC129933971, LOC129933972, LOC129933973, LOC129933974, LOC129933975, LOC129933976, LOC129933977, LOC129933978, LOC129933979, LOC129933980, LOC129933981, LOC129933982, LOC129933983, LOC129933984, LOC129933985, LOC129933986, LOC129933987, LOC129933988, LOC129933989, LOC129933990, LOC129933991, LOC129933992, LOC129933993, LOC129933994, LOC129933995, LOC129933996, LOC129933997, LOC129933998, LOC129933999, LOC129934000, LOC129934001, LOC129934002, LOC129934003, LOC129934004, LOC129934005, LOC129934006, LOC129934007, LOC129934008, LOC129934009, LOC129934010, LOC129934011, LOC129934012, LOC129934013, LOC129934014, LOC129934015, LOC129934016, LOC129934017, LOC129934018, LOC129934019, LOC129934020, LOC129934021, LOC129934022, LOC129934023, LOC129934024, LOC129934025, LOC129934026, LOC129934027, LOC129934028, LOC129934029, LOC129934030, LOC129934031, LOC129934032, LOC129934033, LOC129934034, LOC129934035, LOC129934036, LOC129934037, LOC129934038, LOC129934039, LOC129934040, LOC129934041, LOC129934042, LOC129934043, LOC129934044, LOC129934045, LOC129934046, LOC129934047, LOC129934048, LOC129934049, LOC129934050, LOC129934051, LOC129934052, LOC129934053, LOC129934054, LOC129934055, LOC129934056, LOC129934057, LOC129934058, LOC129934059, LOC129934060, LOC129934061, LOC129934062, LOC129934063, LOC129934064, LOC129934065, LOC129934066, LOC129934067, LOC129934068, LOC129934069, LOC129934070, LOC129934071, LOC129934072, LOC129934073, LOC129934074, LOC129934075, LOC129934076, LOC129934077, LOC129934078, LOC129934079, LOC129934080, LOC129934081, LOC129934082, LOC129934083, LOC129934084, LOC129934085, LOC129934086, LOC129934087, LOC129934088, LOC129934089, LOC129934090, LOC129934091, LOC129934092, LOC129934093, LOC129934094, LOC129934095, LOC129934096, LOC129934097, LOC129934098, LOC129934099, LOC129934100, LOC129934101, LOC129934102, LOC129934103, LOC129934104, LOC129934105, LOC129934106, LOC129934107, LOC129934108, LOC129934109, LOC129934110, LOC129934111, LOC129934112, LOC129934113, LOC129934114, LOC129934115, LOC129934116, LOC129934117, LOC129934118, LOC129934119, LOC129934120, LOC129934121, LOC129934122, LOC129934123, LOC129934124, LOC129934125, LOC129934126, LOC129934127, LOC129934128, LOC129934129, LOC129934130, LOC129934131, LOC129934132, LOC129934133, LOC129934134, LOC129934135, LOC129934136, LOC129934137, LOC129934138, LOC129934139, LOC129934140, LOC129934141, LOC129934142, LOC129934143, LOC129934144, LOC129934145, LOC129934146, LOC129934147, LOC129934148, LOC129934149, LOC129934150, LOC129934151, LOC129934152, LOC129934153, LOC129934154, LOC129934155, LOC129934156, LOC129934157, LOC129934158, LOC129934159, LOC129934160, LOC129934161, LOC129934162, LOC129934163, LOC129934164, LOC129934165, LOC129934166, LOC129934167, LOC129934168, LOC129934169, LOC129934170, LOC129934171, LOC129934172, LOC129934173, LOC129934174, LOC129934175, LOC129934176, LOC132088848, LOC132088850, LOC132088851, LOC132088852, LOC132088853, LOC132088854, LOC132088855, LOC132090679, LOXL3, LRRTM1, LRRTM4, LRRTM4-AS1, M1AP, MCEE, MDH1, MEIS1, MEIS1-AS2, MEIS1-AS3, MIR1285-2, MIR3126, MIR4264, MIR4432, MIR4432HG, MIR4433A, MIR4433B, MIR4434, MIR4778, MIR5000, MIR5192, MIR8080, MOB1A, MOGS, MPHOSPH10, MRPL19, MRPL53, MTHFD2, MXD1, NAGK, NAT8, NAT8B, NFU1, NOTO, OTX1, PAIP2B, PAPOLG, PCBP1, PCBP1-AS1, PCGF1, PCYOX1, PELI1, PEX13, PLEK, PNO1, POLE4, PPP3R1, PRADC1, PROKR1, PUS10, RAB11FIP5, RAB1A, REG1A, REG1B, REG3A, REG3G, REL, REL-DT, RTKN, SANBR, SEMA4F, SERTAD2, SFXN5, SLC1A4, SLC4A5, SMANTIS, SMYD5, SNAR-H, SNORA36C, SNORA70B, SNRNP27, SNRPG, SPR, SPRED2, STAMBP, TACR1, TET3, TEX261, TGFA, TGFA-IT1, TIA1, TLX2, TMEM17, TPRKB, TRG-CCC2-1, TTC31, UGP2, USP34, USP34-DT, VAX2, VPS54, WBP1, WDPCP, WDR54, XPO1, ZNF638 | | See cases | Pathogenic (Nov 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr2:59100174-64417466
- GRCh38:
- Chr2:58873039-64190332
| B3GNT2, BCL11A, C2orf74, C2orf74-AS1, C2orf74-DT, CCT4, COMMD1, EHBP1, EHBP1-AS1, FAM161A, LINC00309, LINC01122, LINC01793, LOC110120667, LOC110120668, LOC110120669, LOC110120746, LOC110120767, LOC110120782, LOC110120811, LOC110120817, LOC110120978, LOC110120997, LOC110121003, LOC110121018, LOC110121024, LOC110121136, LOC120961760, LOC121725091, LOC122757949, LOC122757950, LOC122757951, LOC122757952, LOC122757953, LOC122757954, LOC122757955, LOC122757956, LOC126806224, LOC126806225, LOC126806226, LOC126806227, LOC126806228, LOC129388867, LOC129388868, LOC129388869, LOC129388870, LOC129388871, LOC129388872, LOC129388873, LOC129388874, LOC129388875, LOC129933784, LOC129933785, LOC129933786, LOC129933787, LOC129933788, LOC129933789, LOC129933790, LOC129933791, LOC129933792, LOC129933793, LOC129933794, LOC129933795, LOC129933796, LOC129933797, LOC129933798, LOC129933799, LOC129933800, LOC129933801, LOC129933802, LOC129933803, LOC129933804, LOC129933805, LOC129933806, LOC129933807, LOC129933808, LOC129933809, LOC129933810, LOC129933811, LOC129933812, LOC129933813, LOC129933814, LOC129933815, LOC129933816, LOC129933817, LOC129933818, LOC129933819, LOC129933820, LOC129933821, LOC129933822, LOC129933823, LOC129933824, LOC129933825, LOC129933826, LOC129933827, LOC129933828, LOC129933829, LOC129933830, LOC129933831, LOC129933832, LOC129933833, LOC129933834, LOC129933835, LOC129933836, LOC129933837, LOC129933838, LOC129933839, LOC129933840, LOC129933841, LOC129933842, LOC129933843, LOC129933844, LOC129933845, LOC129933846, LOC129933847, LOC129933848, LOC129933849, LOC129933850, LOC129933851, LOC129933852, LOC129933853, LOC129933854, LOC129933855, LOC129933856, LOC129933857, LOC129933858, LOC129933859, LOC129933860, LOC129933861, LOC129933862, LOC129933863, LOC129933864, LOC129933865, LOC129933866, LOC129933867, LOC129933868, LOC129933869, LOC129933870, LOC129933871, LOC129933872, LOC129933873, LOC129933874, LOC129933875, LOC129933876, LOC129933877, LOC129933878, LOC129933879, LOC129933880, LOC129933881, LOC129933882, LOC129933883, LOC129933884, LOC129933885, LOC129933886, LOC129933887, LOC129933888, LOC129933889, LOC129933890, LOC129933891, LOC129933892, LOC129933893, LOC129933894, LOC129933895, LOC129933896, LOC129933897, LOC129933898, LOC129933899, LOC129933900, LOC129933901, MDH1, MIR4432, MIR4432HG, MIR5192, OTX1, PAPOLG, PELI1, PEX13, PUS10, REL, REL-DT, SANBR, SNORA70B, TMEM17, UGP2, USP34, USP34-DT, VPS54, WDPCP, XPO1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348507
- GRCh38:
- Chr2:63121372
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348516-63348517
- GRCh38:
- Chr2:63121381-63121382
| WDPCP | | Bardet-Biedl syndrome | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348536-63348537
- GRCh38:
- Chr2:63121401-63121402
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348550-63348551
- GRCh38:
- Chr2:63121415-63121416
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348559
- GRCh38:
- Chr2:63121424
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348582
- GRCh38:
- Chr2:63121447
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348600
- GRCh38:
- Chr2:63121465
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348695
- GRCh38:
- Chr2:63121560
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348814
- GRCh38:
- Chr2:63121679
| WDPCP | | Bardet-Biedl syndrome 15 | Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348818
- GRCh38:
- Chr2:63121683
| WDPCP | | Bardet-Biedl syndrome 15 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348946
- GRCh38:
- Chr2:63121811
| WDPCP | | Bardet-Biedl syndrome 15 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63348996-63348999
- GRCh38:
- Chr2:63121861-63121864
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349037
- GRCh38:
- Chr2:63121902
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349147
- GRCh38:
- Chr2:63122012
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Sep 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349152
- GRCh38:
- Chr2:63122017
| WDPCP | G585S, G720S, G744S | Bardet-Biedl syndrome | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349166
- GRCh38:
- Chr2:63122031
| WDPCP | K739R, K580R, K715R | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349171
- GRCh38:
- Chr2:63122036
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349172
- GRCh38:
- Chr2:63122037
| WDPCP | S578Y, S713Y, S737Y | Bardet-Biedl syndrome | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349190
- GRCh38:
- Chr2:63122055
| WDPCP | E572V, E731V, E707V | Bardet-Biedl syndrome | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63349195
- GRCh38:
- Chr2:63122060
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380041
- GRCh38:
- Chr2:63152906
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Apr 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380048
- GRCh38:
- Chr2:63152913
| WDPCP | | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
| Uncertain significance (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63380060
- GRCh38:
- Chr2:63152925
| WDPCP | G727S, G568S, G703S | WDPCP-related condition, Bardet-Biedl syndrome, Inborn genetic diseases, Bardet-Biedl syndrome 15 | Uncertain significance (Jul 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63380061
- GRCh38:
- Chr2:63152926
| WDPCP | | Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome
| Likely benign (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63380066
- GRCh38:
- Chr2:63152931
| WDPCP | E566K, E701K, E725K | Bardet-Biedl syndrome | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380068
- GRCh38:
- Chr2:63152933
| WDPCP | R724T, R700T, R565T | Bardet-Biedl syndrome | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380070
- GRCh38:
- Chr2:63152935
| WDPCP | | not provided | Likely benign (Apr 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380070
- GRCh38:
- Chr2:63152935
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380078
- GRCh38:
- Chr2:63152943
| WDPCP | G562R, G697R, G721R | WDPCP-related condition, Bardet-Biedl syndrome | Uncertain significance (Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63380079
- GRCh38:
- Chr2:63152944
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380093
- GRCh38:
- Chr2:63152958
| WDPCP | | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome | Conflicting interpretations of pathogenicity (Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:63380094
- GRCh38:
- Chr2:63152959
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380616
- GRCh38:
- Chr2:63153481
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380616
- GRCh38:
- Chr2:63153481
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380639
- GRCh38:
- Chr2:63153504
| WDPCP | N558H, N693H, N717H | Bardet-Biedl syndrome | Uncertain significance (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380641
- GRCh38:
- Chr2:63153506
| WDPCP | C692Y, C557Y, C716Y | Inborn genetic diseases, Bardet-Biedl syndrome | Uncertain significance (Apr 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63380646
- GRCh38:
- Chr2:63153511
| WDPCP | | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
| Likely benign (Mar 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63380660
- GRCh38:
- Chr2:63153525
| WDPCP | F551L, F686L, F710L | Inborn genetic diseases | Uncertain significance (May 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380663
- GRCh38:
- Chr2:63153528
| WDPCP | G550R, G685R, G709R | Bardet-Biedl syndrome | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380665
- GRCh38:
- Chr2:63153530
| WDPCP | S549Y, S684Y, S708Y | Bardet-Biedl syndrome | Uncertain significance (Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380675
- GRCh38:
- Chr2:63153540
| WDPCP | D705Y, D546Y, D681Y | Bardet-Biedl syndrome 15, Inborn genetic diseases, Bardet-Biedl syndrome
| Conflicting interpretations of pathogenicity (Oct 8, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:63380681
- GRCh38:
- Chr2:63153546
| WDPCP | E679Q, E544Q, E703Q | Bardet-Biedl syndrome | Uncertain significance (Jul 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380682
- GRCh38:
- Chr2:63153547
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380686
- GRCh38:
- Chr2:63153551
| WDPCP | E677A, E542A, E701A | Bardet-Biedl syndrome | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380687
- GRCh38:
- Chr2:63153552
| WDPCP | E542*, E677*, E701* | Heart defect - tongue hamartoma - polysyndactyly syndrome | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380688
- GRCh38:
- Chr2:63153553
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Nov 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380699
- GRCh38:
- Chr2:63153564
| WDPCP | D538H, D673H, D697H | Bardet-Biedl syndrome | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380701
- GRCh38:
- Chr2:63153566
| WDPCP | I537T, I672T, I696T | Bardet-Biedl syndrome | Uncertain significance (Jun 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380705
- GRCh38:
- Chr2:63153570
| WDPCP | I536V, I671V, I695V | Bardet-Biedl syndrome | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380712
- GRCh38:
- Chr2:63153577
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (May 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63380717
- GRCh38:
- Chr2:63153582
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Dec 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401786
- GRCh38:
- Chr2:63174651
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401787
- GRCh38:
- Chr2:63174652
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jun 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401792
- GRCh38:
- Chr2:63174657
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401797
- GRCh38:
- Chr2:63174662
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401804
- GRCh38:
- Chr2:63174669
| WDPCP | | Bardet-Biedl syndrome 15 | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr2:63401805
- GRCh38:
- Chr2:63174670
| WDPCP | R693I, R669I, R534I | Bardet-Biedl syndrome | Uncertain significance (Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401815
- GRCh38:
- Chr2:63174680
| WDPCP | S531P, S666P, S690P | Inborn genetic diseases | Likely benign (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401820
- GRCh38:
- Chr2:63174685
| WDPCP | N688S, N529S, N664S | not specified, not provided, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome | Benign/Likely benign (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401832
- GRCh38:
- Chr2:63174697
| WDPCP | Q525R, Q660R, Q684R | Bardet-Biedl syndrome | Uncertain significance (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401836
- GRCh38:
- Chr2:63174701
| WDPCP | Q659K, Q683K, Q524K | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15
| Uncertain significance (Mar 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401866
- GRCh38:
- Chr2:63174731
| WDPCP | P649S, P514S, P673S | Bardet-Biedl syndrome | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401873
- GRCh38:
- Chr2:63174738
| WDPCP | N646K, N670K, N511K | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
| Uncertain significance (Oct 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401880
- GRCh38:
- Chr2:63174745
| WDPCP | P644L, P668L, P509L | Bardet-Biedl syndrome | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401882
- GRCh38:
- Chr2:63174747
| WDPCP | F643L, F508L, F667L | Inborn genetic diseases, Bardet-Biedl syndrome | Uncertain significance (Nov 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401892
- GRCh38:
- Chr2:63174757
| WDPCP | E505V, E640V, E664V | Bardet-Biedl syndrome | Uncertain significance (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401901
- GRCh38:
- Chr2:63174766
| WDPCP | P502L, P637L, P661L | Bardet-Biedl syndrome, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Jun 7, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:63401912
- GRCh38:
- Chr2:63174777
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401915
- GRCh38:
- Chr2:63174780
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jul 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401932
- GRCh38:
- Chr2:63174797
| WDPCP | N627H, N492H, N651H | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
| Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401938
- GRCh38:
- Chr2:63174803
| WDPCP | M649V, M625V, M490V | Bardet-Biedl syndrome 15, Bardet-Biedl syndrome | Uncertain significance (Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401941
- GRCh38:
- Chr2:63174806
| WDPCP | D489Y, D648Y, D624Y | Bardet-Biedl syndrome | Uncertain significance (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401942
- GRCh38:
- Chr2:63174807
| WDPCP | | Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15, Bardet-Biedl syndrome
| Likely benign (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401960
- GRCh38:
- Chr2:63174825
| WDPCP | | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401961
- GRCh38:
- Chr2:63174826
| WDPCP | L482R, L641R, L617R | Bardet-Biedl syndrome | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401969
- GRCh38:
- Chr2:63174834
| WDPCP | | Bardet-Biedl syndrome | Likely pathogenic (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401971
- GRCh38:
- Chr2:63174836
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401973
- GRCh38:
- Chr2:63174838
| WDPCP | | Bardet-Biedl syndrome 15, not specified, Bardet-Biedl syndrome
| Benign (Nov 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401981
- GRCh38:
- Chr2:63174846
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63401985
- GRCh38:
- Chr2:63174850
| WDPCP | | Bardet-Biedl syndrome, Heart defect - tongue hamartoma - polysyndactyly syndrome, Bardet-Biedl syndrome 15
| Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63401987-63401988
- GRCh38:
- Chr2:63174852-63174853
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Feb 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486429
- GRCh38:
- Chr2:63259294
| WDPCP | | Bardet-Biedl syndrome 15, Heart defect - tongue hamartoma - polysyndactyly syndrome, not provided, not specified, Bardet-Biedl syndrome, Bardet-Biedl syndrome 1
| Benign (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63486431
- GRCh38:
- Chr2:63259296
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486439
- GRCh38:
- Chr2:63259304
| WDPCP | | Bardet-Biedl syndrome | Uncertain significance (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486440
- GRCh38:
- Chr2:63259305
| WDPCP | | Bardet-Biedl syndrome | Likely pathogenic (Apr 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486444-63486447
- GRCh38:
- Chr2:63259309-63259312
| WDPCP | G478fs, G613fs, G637fs | Bardet-Biedl syndrome | Pathogenic (Jan 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486469
- GRCh38:
- Chr2:63259334
| WDPCP | D471N, D630N, D606N | Bardet-Biedl syndrome | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486475
- GRCh38:
- Chr2:63259340
| WDPCP | D469N, D604N, D628N | Bardet-Biedl syndrome | Uncertain significance (Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486477
- GRCh38:
- Chr2:63259342
| WDPCP | S627I, S468I, S603I | Bardet-Biedl syndrome 15 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486481-63486482
- GRCh38:
- Chr2:63259346-63259347
| WDPCP | A467fs, A602fs, A626fs | Bardet-Biedl syndrome | Pathogenic (Jan 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486507
- GRCh38:
- Chr2:63259372
| WDPCP | A458V, A593V, A617V | Inborn genetic diseases, WDPCP-related condition | Uncertain significance (Jun 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:63486508
- GRCh38:
- Chr2:63259373
| WDPCP | A593T, A617T, A458T | Bardet-Biedl syndrome | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486511
- GRCh38:
- Chr2:63259376
| WDPCP | | Bardet-Biedl syndrome | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486511
- GRCh38:
- Chr2:63259376
| WDPCP | L592M, L616M, L457M | Bardet-Biedl syndrome | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486539
- GRCh38:
- Chr2:63259404
| WDPCP | I447M, I606M, I582M | Bardet-Biedl syndrome | Uncertain significance (Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr2:63486540
- GRCh38:
- Chr2:63259405
| WDPCP | I582S, I606S, I447S | Bardet-Biedl syndrome | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |