U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 169

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesBenign
(Feb 4, 2013)
no assertion criteria provided
2.
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 casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
3.
GRCh37:
Chr2:64814229-70103443
GRCh38:
Chr2:64587095-69876311
AAK1, ACTR2, AFTPH, ANTXR1, ANXA4, APLF, ARHGAP25, BMP10, C1D, CEP68, CNRIP1, DNAAF10, ETAA1, FBXO48, 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, LINC01628, LINC01797, LINC01798, LINC01799, LINC01800, LINC01812, LINC01828, LINC01829, LINC01873, LINC01888, LINC01890, LINC02245, LINC02576, LINC02579, LINC02831, LINC02934, LINC03050, LOC101927661, LOC101927723, LOC105374780, LOC110120611, LOC110121039, LOC110121243, LOC111258501, LOC111258509, LOC111258516, LOC111258517, LOC111258518, LOC111258520, LOC112841582, LOC112841589, LOC112841592, LOC114827836, LOC115945159, LOC115945160, LOC120961761, LOC120961762, LOC120961763, LOC121725092, LOC121725093, LOC122757958, LOC122757959, LOC122757960, LOC122757961, LOC122757962, LOC122757963, LOC122757964, LOC122757965, LOC126806230, LOC126806231, LOC126806232, LOC126806233, LOC126806234, LOC126806235, LOC126806236, LOC126806237, LOC126806238, LOC126806239, LOC126806240, LOC126806241, LOC126806242, LOC126806243, LOC129388876, LOC129388877, 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, LOC132088848, LOC132088850, LOC132088851, LOC132088852, LOC132088853, LOC132088854, LOC132090679, MEIS1, MEIS1-AS2, MEIS1-AS3, MIR3126, MIR4778, NFU1, PLEK, PNO1, PPP3R1, PROKR1, RAB1A, SERTAD2, SLC1A4, SMANTIS, SNORA36C, SPRED2
See casesLikely pathogenic
(Sep 27, 2013)
no assertion criteria provided
4.
GRCh37:
Chr2:69623136
GRCh38:
Chr2:69396004
NFU1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr2:69623275
GRCh38:
Chr2:69396143
NFU1Multiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr2:69623410
GRCh38:
Chr2:69396278
NFU1E245K, E104K, E221KMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:69623423
GRCh38:
Chr2:69396291
NFU1not specifiedUncertain significance
(Mar 22, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr2:69623430
GRCh38:
Chr2:69396298
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Jun 4, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr2:69623430-69623431
GRCh38:
Chr2:69396298-69396299
NFU1not specifiedLikely benign
(Oct 2, 2015)
criteria provided, single submitter
10.
GRCh37:
Chr2:69627476-69627690
GRCh38:
Chr2:69400344-69400558
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely pathogenic
(Aug 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr2:69627492
GRCh38:
Chr2:69400360
NFU1Multiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Nov 10, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr2:69627514
GRCh38:
Chr2:69400382
NFU1Multiple mitochondrial dysfunctions syndrome 1Conflicting interpretations of pathogenicity
(Aug 27, 2022)
criteria provided, conflicting interpretations
13.
GRCh37:
Chr2:69627517
GRCh38:
Chr2:69400385
NFU1Multiple mitochondrial dysfunctions syndrome 1, not providedBenign/Likely benign
(Apr 29, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr2:69627518
GRCh38:
Chr2:69400386
NFU1P209L, P233L, P92LMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr2:69627519
GRCh38:
Chr2:69400387
NFU1P209T, P233T, P92TMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:69627540
GRCh38:
Chr2:69400408
NFU1N226D, N202D, N85Dnot specified, not provided, Multiple mitochondrial dysfunctions syndrome 1
Conflicting interpretations of pathogenicity
(Jun 23, 2023)
criteria provided, conflicting interpretations
17.
GRCh37:
Chr2:69627580
GRCh38:
Chr2:69400448
NFU1S212R, S71R, S188RMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Aug 16, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr2:69627587
GRCh38:
Chr2:69400455
NFU1C210F, C186F, C69Fnot provided, Multiple mitochondrial dysfunctions syndrome 1Conflicting interpretations of pathogenicity
(Sep 6, 2023)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr2:69627594
GRCh38:
Chr2:69400462
NFU1G208C, G67C, G184CNFU1-related condition, not provided, Multiple mitochondrial dysfunctions syndrome 1
Pathogenic
(Jan 25, 2023)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr2:69627651
GRCh38:
Chr2:69400519
NFU1G165R, G189R, G48RMultiple mitochondrial dysfunctions syndrome 1Likely pathogenic
(Jul 28, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr2:69627668
GRCh38:
Chr2:69400536
NFU1P159R, P183R, P42Rnot providedUncertain significance
(Nov 26, 2019)
criteria provided, single submitter
22.
GRCh37:
Chr2:69627670
GRCh38:
Chr2:69400538
NFU1Multiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Apr 20, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr2:69627686
GRCh38:
Chr2:69400554
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Sep 7, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:69627686
GRCh38:
Chr2:69400554
NFU1not provided, Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Aug 23, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr2:69627722
GRCh38:
Chr2:69400590
NFU1not providedLikely benign
(Jun 5, 2019)
criteria provided, single submitter
26.
GRCh37:
Chr2:69627837-69627838
GRCh38:
Chr2:69400705-69400706
NFU1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr2:69627896
GRCh38:
Chr2:69400764
NFU1not providedLikely benign
(Jun 28, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr2:69627900
GRCh38:
Chr2:69400768
NFU1not providedLikely benign
(Jun 28, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr2:69627919
GRCh38:
Chr2:69400787
NFU1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr2:69632857
GRCh38:
Chr2:69405725
NFU1not providedLikely benign
(Aug 7, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr2:69633143
GRCh38:
Chr2:69406011
NFU1not providedLikely benign
(Jun 8, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr2:69633145
GRCh38:
Chr2:69406013
NFU1not provided, Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Jun 8, 2018)
criteria provided, multiple submitters, no conflicts
33.
GRCh37:
Chr2:69633147
GRCh38:
Chr2:69406015
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(May 23, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr2:69633149
GRCh38:
Chr2:69406017
NFU1Multiple mitochondrial dysfunctions syndrome 1, not providedPathogenic
(Apr 26, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr2:69633150
GRCh38:
Chr2:69406018
NFU1Multiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Aug 9, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:69633154
GRCh38:
Chr2:69406022
NFU1R158L, R182L, R41LMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Jul 28, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr2:69633154
GRCh38:
Chr2:69406022
NFU1R182Q, R41Q, R158QMultiple mitochondrial dysfunctions syndrome 1Likely pathogenic
(Jan 29, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr2:69633155
GRCh38:
Chr2:69406023
NFU1R182W, R158W, R41WMultiple mitochondrial dysfunctions syndrome 1Pathogenic
(Dec 7, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr2:69633171
GRCh38:
Chr2:69406039
NFU1not provided, Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr2:69633173
GRCh38:
Chr2:69406041
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Jul 19, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:69633196-69633198
GRCh38:
Chr2:69406064-69406066
NFU1D143del, D26del, D167delMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Apr 25, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:69633202
GRCh38:
Chr2:69406070
NFU1D142G, D166G, D25GMultiple mitochondrial dysfunctions syndrome 1, not providedUncertain significance
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr2:69633204
GRCh38:
Chr2:69406072
NFU1E165D, E141D, E24DMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr2:69633215
GRCh38:
Chr2:69406083
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely pathogenic
(Jun 20, 2019)
criteria provided, single submitter
45.
GRCh37:
Chr2:69633219-69633222
GRCh38:
Chr2:69406087-69406090
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Feb 4, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:69633234
GRCh38:
Chr2:69406102
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(May 27, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:69633382
GRCh38:
Chr2:69406250
NFU1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr2:69633419
GRCh38:
Chr2:69406287
NFU1not providedLikely benign
(Jul 15, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr2:69633488
GRCh38:
Chr2:69406356
NFU1not providedLikely benign
(Jan 13, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr2:69633510
GRCh38:
Chr2:69406378
NFU1not providedLikely benign
(Aug 3, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr2:69642126
GRCh38:
Chr2:69414994
NFU1not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr2:69642136
GRCh38:
Chr2:69415004
NFU1not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr2:69642191
GRCh38:
Chr2:69415059
NFU1not providedBenign
(Jul 15, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr2:69642371
GRCh38:
Chr2:69415239
NFU1F3V, F144V, F120VMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Mar 14, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr2:69642381
GRCh38:
Chr2:69415249
NFU1not provided, Multiple mitochondrial dysfunctions syndrome 1Benign/Likely benign
(Dec 2, 2021)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr2:69642390
GRCh38:
Chr2:69415258
NFU1not specified, Multiple mitochondrial dysfunctions syndrome 1Benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr2:69642403
GRCh38:
Chr2:69415271
NFU1L109P, L133Pnot providedUncertain significance
(Sep 20, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr2:69642428
GRCh38:
Chr2:69415296
NFU1N101D, N125DMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr2:69642430
GRCh38:
Chr2:69415298
NFU1E100G, E124GMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Sep 12, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:69642435
GRCh38:
Chr2:69415303
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Aug 9, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr2:69642435
GRCh38:
Chr2:69415303
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Jul 31, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr2:69642438
GRCh38:
Chr2:69415306
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Jun 25, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:69642513-69642514
GRCh38:
Chr2:69415381-69415382
NFU1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
64.
GRCh37:
Chr2:69642513-69642514
GRCh38:
Chr2:69415381-69415382
NFU1not providedLikely benign
(Aug 11, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr2:69642572
GRCh38:
Chr2:69415440
NFU1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr2:69642615
GRCh38:
Chr2:69415483
NFU1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr2:69646504
GRCh38:
Chr2:69419372
NFU1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr2:69646541
GRCh38:
Chr2:69419409
NFU1not providedBenign
(Aug 3, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr2:69646666
GRCh38:
Chr2:69419534
NFU1Multiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Dec 29, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr2:69646680
GRCh38:
Chr2:69419548
NFU1T120N, T96NMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Sep 30, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr2:69646707
GRCh38:
Chr2:69419575
NFU1S87I, S111IMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr2:69646715
GRCh38:
Chr2:69419583
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Jan 2, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr2:69646730
GRCh38:
Chr2:69419598
NFU1L103F, L79FInborn genetic diseasesUncertain significance
(Oct 25, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr2:69646738
GRCh38:
Chr2:69419606
NFU1Multiple mitochondrial dysfunctions syndrome 1, not providedLikely pathogenic
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr2:69646740
GRCh38:
Chr2:69419608
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Oct 17, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:69646740
GRCh38:
Chr2:69419608
NFU1not providedLikely benign
(Dec 27, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr2:69646748-69646749
GRCh38:
Chr2:69419616-69419617
NFU1Fatal multiple mitochondrial dysfunctions syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
78.
GRCh37:
Chr2:69646754
GRCh38:
Chr2:69419622
NFU1Multiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Jan 27, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr2:69646755
GRCh38:
Chr2:69419623
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Feb 14, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr2:69646755
GRCh38:
Chr2:69419623
NFU1not specified, Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr2:69646950
GRCh38:
Chr2:69419818
NFU1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr2:69647013
GRCh38:
Chr2:69419881
NFU1not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr2:69650376-69650387
GRCh38:
Chr2:69423244-69423255
NFU1not providedBenign
(Jan 19, 2020)
criteria provided, single submitter
84.
GRCh37:
Chr2:69650376-69650393
GRCh38:
Chr2:69423244-69423261
NFU1not providedBenign
(Aug 21, 2019)
criteria provided, single submitter
85.
GRCh37:
Chr2:69650376-69650391
GRCh38:
Chr2:69423244-69423259
NFU1not providedBenign
(Aug 12, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr2:69650406
GRCh38:
Chr2:69423274
NFU1not providedLikely benign
(Aug 21, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr2:69650445
GRCh38:
Chr2:69423313
NFU1not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr2:69650527
GRCh38:
Chr2:69423395
NFU1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr2:69650554-69650555
GRCh38:
Chr2:69423422-69423423
NFU1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
90.
GRCh37:
Chr2:69650698-69650699
GRCh38:
Chr2:69423566-69423567
NFU1Multiple mitochondrial dysfunctions syndrome 1Benign
(Mar 17, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:69650711
GRCh38:
Chr2:69423579
NFU1Multiple mitochondrial dysfunctions syndrome 1, not providedConflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr2:69650715
GRCh38:
Chr2:69423583
NFU1R101G, R77Gnot providedUncertain significance
(Jan 11, 2020)
criteria provided, single submitter
93.
GRCh37:
Chr2:69650716
GRCh38:
Chr2:69423584
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Aug 3, 2020)
criteria provided, single submitter
94.
GRCh37:
Chr2:69650717
GRCh38:
Chr2:69423585
NFU1A100G, A76GMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Jan 28, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr2:69650718
GRCh38:
Chr2:69423586
NFU1A100P, A76Pnot providedUncertain significance
(Jan 11, 2020)
criteria provided, single submitter
96.
GRCh37:
Chr2:69650726
GRCh38:
Chr2:69423594
NFU1S73C, S97CMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Aug 13, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:69650729
GRCh38:
Chr2:69423597
NFU1R72H, R96HMultiple mitochondrial dysfunctions syndrome 1, not providedUncertain significance
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr2:69650730
GRCh38:
Chr2:69423598
NFU1R96C, R72Cnot specified, Multiple mitochondrial dysfunctions syndrome 1Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr2:69650733
GRCh38:
Chr2:69423601
NFU1F71L, F95LMultiple mitochondrial dysfunctions syndrome 1Uncertain significance
(Aug 1, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:69650776
GRCh38:
Chr2:69423644
NFU1Multiple mitochondrial dysfunctions syndrome 1Likely benign
(Mar 23, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination