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Items: 1 to 100 of 14693

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr11:90819827-109466308
GRCh38:
Chr11:91086659-109595582
AASDHPPT, ACAT1, ALKBH8, AMOTL1, ANGPTL5, ANKRD49, ARHGAP42, ARHGAP42-AS1, ATM, BIRC2, BIRC3, C11orf54, C11orf65, C11orf87, C11orf97, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CCDC82, CEP126, CEP295, CEP57, CFAP300, CNTN5, CUL5, CWC15, CWF19L2, DCUN1D5, DDI1, DDX10, DEUP1, DYNC2H1, ELMOD1, ENDOD1, EXPH5, FAM76B, FAT3, FUT4, GPR83, GRIA4, GUCY1A2, HEPHL1, IZUMO1R, JRKL, JRKL-AS1, KBTBD3, KDM4D, KDM4E, KDM4F, LINC02552, LINC02553, LINC02700, LINC02713, LINC02719, LINC02737, LINC02746, LINC02748, LINC02756, LNCRNA-IUR, LOC100129203, LOC101928535, LOC102723838, LOC106865368, LOC111591509, LOC111982889, LOC112136095, LOC112136096, LOC112136097, LOC114827859, LOC116225301, LOC121392934, LOC121392935, LOC121392936, LOC121392937, LOC121392938, LOC121832819, LOC124544579, LOC124544580, LOC124544581, LOC124544582, LOC124544583, LOC124625821, LOC124625822, LOC124625823, LOC124625824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124625831, LOC124625832, LOC124625833, LOC126861290, LOC126861291, LOC126861292, LOC126861293, LOC126861294, LOC126861295, LOC126861296, LOC126861297, LOC126861298, LOC126861299, LOC126861300, LOC126861301, LOC126861302, LOC126861303, LOC126861304, LOC126861305, LOC126861306, LOC126861307, LOC126861308, LOC126861309, LOC126861310, LOC126861311, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC126861328, LOC126861329, LOC126861330, LOC126861331, LOC128772354, LOC128772355, LOC128772356, LOC128772357, LOC128772358, LOC128772359, LOC128772360, LOC128772361, LOC128772362, LOC128772363, LOC129390328, LOC129390329, LOC129390330, LOC129390331, LOC129390332, LOC129390333, LOC129390334, LOC129390335, LOC129390336, LOC129390337, LOC129390338, LOC129390339, LOC129390340, LOC129390341, LOC129390342, LOC129390343, LOC129390344, LOC129390345, LOC129390346, LOC129390347, LOC129390348, LOC129390349, LOC129390350, LOC129390351, LOC129390352, LOC129390353, LOC129390354, LOC129390355, LOC129390356, LOC129390357, LOC130006579, LOC130006580, LOC130006581, LOC130006582, LOC130006583, LOC130006584, LOC130006585, LOC130006586, LOC130006587, LOC130006588, LOC130006589, LOC130006590, LOC130006591, LOC130006592, LOC130006593, LOC130006594, LOC130006595, LOC130006596, LOC130006597, LOC130006598, LOC130006599, LOC130006600, LOC130006601, LOC130006602, LOC130006603, LOC130006604, LOC130006605, LOC130006606, LOC130006607, LOC130006608, LOC130006609, LOC130006610, LOC130006611, LOC130006612, LOC130006613, LOC130006614, LOC130006615, LOC130006616, LOC130006617, LOC130006618, LOC130006619, LOC130006620, LOC130006621, LOC130006622, LOC130006623, LOC130006624, LOC130006625, LOC130006626, LOC130006627, LOC130006628, LOC130006629, LOC130006630, LOC130006631, LOC130006632, LOC130006633, LOC130006634, LOC130006635, LOC130006636, LOC130006637, LOC130006638, LOC130006639, LOC130006640, LOC130006641, LOC130006642, LOC130006643, LOC130006644, LOC130006645, LOC130006646, LOC130006647, LOC130006648, LOC130006649, LOC130006650, LOC130006651, LOC130006652, LOC130006653, LOC130006654, LOC130006655, LOC130006656, LOC130006657, LOC130006658, LOC130006659, LOC130006660, LOC130006661, LOC130006662, LOC130006663, LOC130006664, LOC130006665, LOC130006666, LOC130006667, LOC130006668, LOC130006669, LOC130006670, LOC130006671, LOC130006672, LOC130006673, LOC130006674, LOC130006675, LOC130006676, LOC130006677, LOC130006678, LOC130006679, LOC130006680, LOC130006681, LOC130006682, LOC130006683, LOC130006684, LOC130006685, LOC130006686, LOC130006687, LOC130006688, LOC130006689, LOC130006690, LOC130006691, LOC130006692, LOC130006693, LOC130006694, LOC130006695, LOC130006696, LOC130006697, LOC130006698, LOC130006699, LOC130006700, LOC130006701, LOC130006702, LOC130006703, LOC130006704, LOC130006705, LOC130006706, LOC130006707, LOC130006708, LOC130006709, LOC130006710, LOC130006711, LOC130006712, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089945, LOC132089946, LOC132089947, LOC132089948, LOC132089949, LOC132089950, LOC132089951, LOC132089952, LOC132089953, LOC132089954, LOC132089955, LOC132089956, LOC132090839, LOC132090840, MAML2, MED17, MIR1260B, MIR1304, MIR3920, MIR4693, MIR548L, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MRE11, MSANTD4, MTMR2, MTNR1B, NPAT, PANX1, PDGFD, PDGFDDN, PGR, PGR-AS1, PIWIL4, PIWIL4-AS1, POGLUT3, RAB39A, SCARNA9, SESN3, SLC35F2, SLC36A4, SLN, SMCO4, SNORA1, SNORA18, SNORA25, SNORA32, SNORA40, SNORA8, SNORD13I, SNORD5, SNORD6, SRSF8, TAF1D, TMEM123, TMEM123-DT, TMEM133, TRPC6, VSTM5, YAP1
See casesPathogenic
(Jan 3, 2012)
no assertion criteria provided
2.
GRCh37:
Chr11:100219331-134910140
GRCh38:
Chr11:100348599-135040246
LOC130006930, LOC130006931, LOC130006932, LOC130006933, LOC130006934, LOC130006935, LOC130006936, LOC130006937, LOC130006938, LOC130006939, LOC130006940, LOC130006941, LOC130006942, LOC130006943, LOC130006944, LOC130006945, LOC130006946, LOC130006947, LOC130006948, LOC130006949, LOC130006950, LOC130006951, LOC130006952, LOC130006953, LOC130006954, LOC130006955, LOC130006956, LOC130006957, LOC130006958, LOC130006959, LOC130006960, LOC130006961, LOC130006962, LOC130006963, LOC130006964, LOC130006965, LOC130006966, LOC130006967, LOC130006968, LOC130006969, LOC130006970, LOC130006971, LOC130006972, LOC130006973, LOC130006974, LOC130006975, LOC130006976, LOC130006977, LOC130006978, LOC130006979, LOC130006980, LOC130006981, LOC130006982, LOC130006983, LOC130006984, LOC130006985, LOC130006986, LOC130006987, LOC130006988, LOC130006989, LOC130006990, LOC130006991, LOC130006992, LOC130006993, LOC130006994, LOC130006995, LOC130006996, LOC130006997, LOC130006998, LOC130006999, LOC130007000, LOC130007001, LOC130007002, LOC130007003, LOC130007004, LOC130007005, LOC130007006, LOC130007007, LOC130007008, LOC130007009, LOC130007010, LOC130007011, LOC130007012, LOC130007013, LOC130007014, LOC130007015, LOC130007016, LOC130007017, LOC130007018, LOC130007019, LOC130007020, LOC130007021, LOC130007022, LOC130007023, LOC130007024, LOC130007025, LOC130007026, LOC130007027, LOC130007028, LOC130007029, LOC130007030, LOC130007031, LOC130007032, LOC130007033, LOC130007034, LOC130007035, LOC130007036, LOC130007037, LOC130007038, LOC130007039, LOC130007040, LOC130007041, LOC130007042, LOC130007043, LOC130007044, LOC130007045, LOC130007046, LOC130007047, LOC130007048, LOC130007049, LOC130007050, LOC130007051, LOC130007052, LOC130007053, LOC130007054, LOC130007055, LOC130007056, LOC130007057, LOC130007058, LOC130007059, LOC130007060, LOC130007061, LOC130007062, LOC130007063, LOC130007064, LOC130007065, LOC130007066, LOC130007067, LOC130007068, LOC130007069, LOC130007070, LOC130007071, LOC130007072, LOC130007073, LOC130007074, LOC130007075, LOC130007076, LOC130007077, LOC130007078, LOC130007079, LOC130007080, LOC130007081, LOC130007082, LOC130007083, LOC130007084, LOC130007085, LOC130007086, LOC130007087, LOC130007088, LOC130007089, LOC130007090, LOC130007091, LOC130007092, LOC130007093, LOC130007094, LOC130007095, LOC130007096, LOC130007097, LOC130007098, LOC130007099, LOC130007100, LOC130007101, LOC130007102, LOC130007103, LOC130007104, LOC130007105, LOC130007106, LOC130007107, LOC130007108, LOC130007109, LOC130007110, LOC130007111, LOC130007112, LOC130007113, LOC130007114, LOC130007115, LOC130007116, LOC130007117, LOC130007118, LOC130007119, LOC130007120, LOC130007121, LOC130007122, LOC130007123, LOC130007124, LOC130007125, LOC130007126, LOC130007127, LOC130007128, LOC130007129, LOC132089885, LOC132089886, LOC132089887, LOC132089888, LOC132089889, LOC132089890, LOC132089891, LOC132089892, LOC132089893, LOC132089894, LOC132089895, LOC132089896, LOC132089900, LOC132089901, LOC132089902, LOC132089903, LOC132089904, LOC132089905, LOC132089906, LOC132089907, LOC132089908, LOC132090840, LOC132090841, LOC132090842, LOC132211105, LOC399975, LOC403312, LOC649133, MCAM, MFRP, MIR100, MIR100HG, MIR10526, MIR125B1, MIR3167, MIR34B, MIR34BHG, MIR34C, MIR3920, MIR4301, MIR4491, MIR4492, MIR4493, MIR4693, MIR4697, MIR6090, MIR6716, MIR6756, MIR8052, MIRLET7A2, MMP1, MMP10, MMP12, MMP13, MMP20, MMP20-AS1, MMP27, MMP3, MMP7, MMP8, MPZL2, MPZL3, MSANTD2, MSANTD2-AS1, MSANTD4, NCAM1, NCAM1-AS1, NCAPD3, NECTIN1, NECTIN1-AS1, NECTIN1-DT, NFRKB, NHERF4, NKAPD1, NLRX1, NNMT, NPAT, NRGN, NTM, NTM-AS1, NTM-IT, NXPE1, NXPE2, NXPE4, OAF, OPCML, OPCML-IT1, OR10D3, OR10G4, OR10G6, OR10G7, OR10G8, OR10G9, OR10S1, OR4D5, OR6M1, OR6T1, OR6X1, OR8A1, OR8B12, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G3P, OR8G5, PAFAH1B2, PANX3, PATE1, PATE2, PATE3, PATE4, PCSK7, PDGFD, PDGFDDN, PGR, PGR-AS1, PHLDB1, PIH1D2, PKNOX2, PKNOX2-AS1, PKNOX2-DT, PLET1, POGLUT3, POU2AF1, POU2AF2, POU2AF3, POU2F3, PPP2R1B, PRDM10, PRDM10-DT, PTS, PUS3, RAB39A, RBM7, RDX, REXO2, RNF214, RNF26, ROBO3, ROBO4, RPS25, RPUSD4, SC5D, SCN2B, SCN3B, SCN4B, SLC35F2, SDHD, SENCR, SIAE, SIDT2, SIK2, SIK3, SLC37A2, SLC37A4, SLN, SMIM35, SNORD13I, SNORD14C, SNORD14D, SNORD14E, SNORD150, SNORD153, SNX19, SORL1, SORL1-AS1, SPA17, SPATA19, SRPRA, ST14, ST3GAL4, STT3A, STT3A-AS1, TAGLN, TBCEL, TBCEL-TECTA, TBRG1, TECTA, TEX12, THY1, THYN1, TIMM8B, TIRAP, TIRAP-AS1, TLCD5, TMEM123, TMEM123-DT, TMEM133, TMEM218, TMEM225, TMEM25, TMEM45B, TMPRSS13, TMPRSS4, TMPRSS5, TP53AIP1, TRAPPC4, TREH, TRIM29, TRK-TTT2-1, TRPC6, TTC12, TTC12-DT, TTC36, TTC36-AS1, UBASH3B, UBE4A, UPK2, USP2, USP2-AS1, USP28, VPS11, VPS26B, VSIG10L2, VSIG2, VWA5A, YAP1, ZBTB16, ZBTB44, ZBTB44-DT, ZC3H12C, ZNF202, ZPR1, ZW10, LOC121832823, LOC121832824, LOC124625825, LOC124625826, LOC124625827, LOC124625828, LOC124625830, LOC124625831, LOC124625832, LOC124625833, LOC124625834, LOC124625835, LOC124625836, LOC124625837, LOC124625838, LOC124625839, LOC124625840, LOC124625841, LOC124625842, LOC124625843, LOC124625844, LOC124625847, LOC124625848, LOC124625849, LOC124625850, LOC124625851, LOC124625852, LOC124625853, LOC124625854, LOC124625855, LOC124625856, LOC124625857, LOC124625858, LOC124625859, LOC124625860, LOC124625861, LOC124625862, LOC124625863, LOC124625864, LOC124625865, LOC124625866, LOC124625867, LOC124625868, LOC124625870, LOC124625871, LOC124625872, LOC124625873, LOC124625874, LOC124625875, LOC126861312, LOC126861313, LOC126861314, LOC126861315, LOC126861316, LOC126861317, LOC126861318, LOC126861319, LOC126861320, LOC126861321, LOC126861322, LOC126861323, LOC126861324, LOC126861325, LOC126861326, LOC126861327, LOC126861328, LOC126861329, LOC126861330, LOC126861331, LOC126861332, LOC126861333, LOC126861334, LOC126861335, LOC126861336, LOC126861337, LOC126861338, LOC126861339, LOC126861340, LOC126861341, LOC126861342, LOC126861343, LOC126861344, LOC126861345, LOC126861346, LOC126861347, LOC126861348, LOC126861349, LOC126861350, LOC126861351, LOC126861352, LOC126861353, LOC126861354, LOC126861355, LOC126861356, LOC126861357, LOC126861358, LOC126861359, LOC126861360, LOC126861361, LOC126861362, LOC126861363, LOC126861364, LOC126861365, LOC126861366, LOC126861367, LOC126861368, LOC126861369, LOC126861370, LOC126861371, LOC126861372, LOC126861373, LOC126861374, LOC126861375, LOC126861376, LOC126861377, LOC126861378, LOC126861379, LOC126861380, LOC126861381, LOC126861382, LOC126861383, LOC126861384, LOC126861385, LOC126861386, LOC126861387, LOC126861388, LOC126861389, LOC126861390, LOC126861391, LOC126861392, LOC126861393, LOC126861394, LOC126861395, LOC126861396, LOC126861397, LOC126861398, LOC126861399, LOC126861400, LOC126861401, LOC126861402, LOC126861403, LOC126861404, LOC126861405, LOC126861406, LOC126861407, LOC126861408, LOC126861409, LOC127823033, LOC128462392, LOC128462393, LOC128462394, LOC128462411, LOC128772354, LOC128772355, LOC128772356, LOC128772357, LOC128772358, LOC128772359, LOC128772360, LOC128772361, LOC128772362, LOC128772363, LOC128772364, LOC128772365, LOC128772366, LOC128772367, LOC128772368, LOC128772369, LOC128772370, LOC128772371, LOC128772372, LOC128772373, LOC129390347, LOC129390348, LOC129390349, LOC129390350, LOC129390351, LOC129390352, LOC129390353, LOC129390354, LOC129390355, LOC129390356, LOC129390357, LOC129390358, LOC129390359, LOC129390360, LOC129390361, LOC129390362, LOC129390363, LOC129390364, LOC129390365, LOC129390366, LOC129390367, LOC129390368, LOC129390369, LOC129390370, LOC129390371, LOC129390372, LOC129390373, LOC129390374, LOC129390375, LOC129390376, LOC129390377, LOC129390378, LOC129390379, LOC129390380, LOC129390381, LOC129390382, LOC129390383, LOC129390384, LOC130006632, LOC130006633, LOC130006634, LOC130006635, LOC130006636, LOC130006637, LOC130006638, LOC130006639, LOC130006640, LOC130006641, LOC130006642, LOC130006643, LOC130006644, LOC130006645, LOC130006646, LOC130006647, LOC130006648, LOC130006649, LOC130006650, LOC130006651, LOC130006652, LOC130006653, LOC130006654, LOC130006655, LOC130006656, LOC130006657, LOC130006658, LOC130006659, LOC130006660, LOC130006661, LOC130006662, LOC130006663, LOC130006664, LOC130006665, LOC130006666, LOC130006667, LOC130006668, LOC130006669, LOC130006670, LOC130006671, LOC130006672, LOC130006673, LOC130006674, LOC130006675, LOC130006676, LOC130006677, LOC130006678, LOC130006679, LOC130006680, LOC130006681, LOC130006682, LOC130006683, LOC130006684, LOC130006685, LOC130006686, LOC130006687, LOC130006688, LOC130006689, LOC130006690, LOC130006691, LOC130006692, LOC130006693, LOC130006694, LOC130006695, LOC130006696, LOC130006697, LOC130006698, LOC130006699, LOC130006700, LOC130006701, LOC130006702, LOC130006703, LOC130006704, LOC130006705, LOC130006706, LOC130006707, LOC130006708, LOC130006709, LOC130006710, LOC130006711, LOC130006712, LOC130006713, LOC130006714, LOC130006715, LOC130006716, LOC130006717, LOC130006718, LOC130006719, LOC130006720, LOC130006721, LOC130006722, LOC130006723, LOC130006724, LOC130006725, LOC130006726, LOC130006727, LOC130006728, LOC130006729, LOC130006730, LOC130006731, LOC130006732, LOC130006733, LOC130006734, LOC130006735, LOC130006736, LOC130006737, LOC130006738, LOC130006739, LOC130006740, LOC130006741, LOC130006742, LOC130006743, LOC130006744, LOC130006745, LOC130006746, LOC130006747, LOC130006748, LOC130006749, LOC130006750, LOC130006751, LOC130006752, LOC130006753, LOC130006754, LOC130006755, LOC130006756, LOC130006757, LOC130006758, LOC130006759, LOC130006760, LOC130006761, LOC130006762, LOC130006763, LOC130006764, LOC130006765, LOC130006766, LOC130006767, LOC130006768, LOC130006769, LOC130006770, LOC130006771, LOC130006772, LOC130006773, LOC130006774, LOC130006775, LOC130006776, LOC130006777, LOC130006778, LOC130006779, LOC130006780, LOC130006781, LOC130006782, LOC130006783, LOC130006784, LOC130006785, LOC130006786, LOC130006787, LOC130006788, LOC130006789, LOC130006790, LOC130006791, LOC130006792, LOC130006793, LOC130006794, LOC130006795, LOC130006796, LOC130006797, LOC130006798, LOC130006799, LOC130006800, LOC130006801, LOC130006802, LOC130006803, LOC130006804, LOC130006805, LOC130006806, LOC130006807, LOC130006808, LOC130006809, LOC130006810, LOC130006811, LOC130006812, LOC130006813, LOC130006814, LOC130006815, LOC130006816, LOC130006817, LOC130006818, LOC130006819, LOC130006820, LOC130006821, LOC130006822, LOC130006823, LOC130006824, LOC130006825, LOC130006826, LOC130006827, LOC130006828, LOC130006829, LOC130006830, LOC130006831, LOC130006832, LOC130006833, LOC130006834, LOC130006835, LOC130006836, LOC130006837, LOC130006838, LOC130006839, LOC130006840, LOC130006841, LOC130006842, LOC130006843, LOC130006844, LOC130006845, LOC130006846, LOC130006847, LOC130006848, LOC130006849, LOC130006850, LOC130006851, LOC130006852, LOC130006853, LOC130006854, LOC130006855, LOC130006856, LOC130006857, LOC130006858, LOC130006859, LOC130006860, LOC130006861, LOC130006862, LOC130006863, LOC130006864, LOC130006865, LOC130006866, LOC130006867, LOC130006868, LOC130006869, LOC130006870, LOC130006871, LOC130006872, LOC130006873, LOC130006874, LOC130006875, LOC130006876, LOC130006877, LOC130006878, LOC130006879, LOC130006880, LOC130006881, LOC130006882, LOC130006883, LOC130006884, LOC130006885, LOC130006886, LOC130006887, LOC130006888, LOC130006889, LOC130006890, LOC130006891, LOC130006892, LOC130006893, LOC130006894, LOC130006895, LOC130006896, LOC130006897, LOC130006898, LOC130006899, LOC130006900, LOC130006901, LOC130006902, LOC130006903, LOC130006904, LOC130006905, LOC130006906, LOC130006907, LOC130006908, LOC130006909, LOC130006910, LOC130006911, LOC130006912, LOC130006913, LOC130006914, LOC130006915, LOC130006916, LOC130006917, LOC130006918, LOC130006919, LOC130006920, LOC130006921, LOC130006922, LOC130006923, LOC130006924, LOC130006925, LOC130006926, LOC130006927, LOC130006928, LOC130006929, AASDHPPT, ABCG4, ACAD8, ACAT1, ACRV1, ADAMTS15, ADAMTS8, ALG9, ALKBH8, ANGPTL5, ANKK1, APLP2, APOA1, APOA1-AS, APOA4, APOA5, APOC3, ARCN1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGAP42-AS1, ARHGEF12, ATM, ATP5MG, B3GAT1, B3GAT1-DT, BACE1, BACE1-AS, BARX2, BCL9L, BCO2, BIRC2, BIRC3, BLID, BSX, BTG4, BUD13, BUD13-DT, C11orf52, C11orf65, C11orf71, C11orf87, C1QTNF5, C2CD2L, CADM1, CADM1-AS1, CARD16, CARD17, CARD18, CASP1, CASP12, CASP4, CASP5, CBL, CCDC15, CCDC153, CD3D, CD3E, CD3G, CDON, CENATAC, CENATAC-DT, CEP126, CEP164, CFAP300, CFAP68, CHEK1, CLDN25, CLMP, CNTN5, COLCA1, CRTAM, CRYAB, CUL5, CWF19L2, CXCR5, DCPS, DCUN1D5, DDI1, DDX10, DDX25, DDX6, DIXDC1, DLAT, DPAGT1, DRD2, DSCAML1, DYNC2H1, EI24, ELMOD1, ESAM, ESAM-AS1, ETS1, ETS1-AS1, EXPH5, FAM118B, FDX1, FDXACB1, FEZ1, FLI1, FOXR1, FOXRED1, FRA11B, FXYD2, FXYD6, FXYD6-AS1, FXYD6-FXYD2, GLB1L2, GLB1L3, GRAMD1B, GRIA4, GRIK4, GSEC, GUCY1A2, H2AX, HEPACAM, HEPN1, HINFP, HMBS, HOATZ, HSPA8, HSPB2, HSPB2-C11orf52, HTR3A, HTR3B, HYLS1, HYOU1, HYOU1-AS1, IFT46, IGSF9B, IL10RA, IL18, JAM3, JAML, JHY, KBTBD3, KCNJ1, KCNJ5, KCNJ5-AS1, KIRREL3, KIRREL3-AS1, KIRREL3-AS2, KIRREL3-AS3, KMT2A, LAYN, LINC00900, LINC01395, LINC02098, LINC02151, LINC02550, LINC02551, LINC02552, LINC02697, LINC02702, LINC02703, LINC02706, LINC02712, LINC02714, LINC02715, LINC02719, LINC02725, LINC02727, LINC02730, LINC02731, LINC02732, LINC02743, LINC02744, LINC02762, LINC02763, LINC02764, LINC02873, LOC100131626, LOC100132078, LOC100132686, LOC100507548, LOC100652768, LOC101928535, LOC101928847, LOC101928940, LOC101928985, LOC101929208, LOC101929227, LOC101929427, LOC101929473, LOC101929538, LOC101929653, LOC102723838, LOC105369509, LOC105369532, LOC105369535, LOC105369558, LOC106865368, LOC107984399, LOC108165612, LOC108165613, LOC108281156, LOC108353823, LOC108491825, LOC110120853, LOC110120944, LOC110121342, LOC110121415, LOC110121418, LOC110121460, LOC111365219, LOC111413012, LOC111429625, LOC111464985, LOC111465015, LOC111718489, LOC111982889, LOC111982891, LOC111982892, LOC111982893, LOC111982894, LOC112042777, LOC112042778, LOC112042779, LOC112042780, LOC112042783, LOC112042784, LOC112042785, LOC112042786, LOC112061819, LOC112061820, LOC112061821, LOC112061822, LOC112061823, LOC112067710, LOC112067711, LOC113939918, LOC113939919, LOC114803469, LOC116225302, LOC116225303, LOC116225304, LOC116225305, LOC116225306, LOC116225307, LOC118567325, LOC121392936, LOC121392937, LOC121392938, LOC121392939, LOC121392940, LOC121392941, LOC121392942, LOC121392943, LOC121392944, LOC121392945, LOC121392946, LOC121392947, LOC121392948, LOC121392949, LOC121392950, LOC121392951, LOC121392952, LOC121392953, LOC121392954, LOC121832819, LOC121832820, LOC121832821, LOC121832822
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh38:
Chr11:108151766-108183226
ATM, LOC128772354, LOC130006698, NPATAtaxia-telangiectasia syndromePathogenic
(Nov 20, 2019)
no assertion criteria provided
4.
GRCh37:
Chr11:108093495
GRCh38:
Chr11:108222768
ATMAtaxia-telangiectasia syndromeLikely benign
(May 28, 2019)
criteria provided, single submitter
5.
GRCh37:
Chr11:108093546
GRCh38:
Chr11:108222819
ATMAtaxia-telangiectasia syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr11:108093559-108239826
GRCh38:
Chr11:108222832-108369099
LOC128772356, LOC129390352, LOC129390353, LOC130006700, LOC130006701, LOC129390354, ATM, C11orf65, LOC130006702, LOC130006703Ataxia-telangiectasia syndromePathogenic
(May 5, 2016)
criteria provided, single submitter
7.
GRCh37:
Chr11:108093573
GRCh38:
Chr11:108222846
ATMnot specified, Familial cancer of breast, Ataxia-telangiectasia syndrome
Uncertain significance
(Nov 18, 2021)
criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:108093616
GRCh38:
Chr11:108222889
ATMnot provided, Ataxia-telangiectasia syndromeLikely benign
(Aug 15, 2019)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr11:108093617
GRCh38:
Chr11:108222890
ATMnot specifiedUncertain significance
(May 4, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr11:108093662
GRCh38:
Chr11:108222935
ATMnot specifiedUncertain significance
(Mar 19, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr11:108093670
GRCh38:
Chr11:108222943
ATMAtaxia-telangiectasia syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr11:108093703
GRCh38:
Chr11:108222976
ATMnot specifiedUncertain significance
(Feb 16, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr11:108093708
GRCh38:
Chr11:108222981
ATMAtaxia-telangiectasia syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr11:108093715
GRCh38:
Chr11:108222988
ATMAtaxia-telangiectasia syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr11:108093722
GRCh38:
Chr11:108222995
ATMAtaxia-telangiectasia syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr11:108093726
GRCh38:
Chr11:108222999
ATMnot specified, Ataxia-telangiectasia syndromeUncertain significance
(Dec 17, 2020)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr11:108093758
GRCh38:
Chr11:108223031
ATM, LOC130006700Ataxia-telangiectasia syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr11:108093770
GRCh38:
Chr11:108223043
ATM, LOC130006700Ataxia-telangiectasia syndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr11:108093773
GRCh38:
Chr11:108223046
ATM, LOC130006700not specifiedUncertain significance
(Jun 14, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr11:108093797
GRCh38:
Chr11:108223070
ATM, LOC130006700not specifiedUncertain significance
(Aug 14, 2019)
criteria provided, single submitter
21.
GRCh37:
Chr11:108093817
GRCh38:
Chr11:108223090
ATM, LOC130006700not specifiedUncertain significance
(Sep 28, 2020)
criteria provided, single submitter
22.
GRCh37:
Chr11:108093833-108093835
GRCh38:
Chr11:108223106-108223108
ATM, LOC130006700Ataxia-telangiectasia syndromeUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
23.
GRCh37:
Chr11:108093833
GRCh38:
Chr11:108223106
ATM, LOC130006700not provided, Ataxia-telangiectasia syndromeBenign
(Dec 18, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:108093850
GRCh38:
Chr11:108223123
ATM, LOC130006700Ataxia-telangiectasia syndrome, not specifiedUncertain significance
(Dec 3, 2021)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:108093870
GRCh38:
Chr11:108223143
LOC130006700, ATMAtaxia-telangiectasia syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr11:108093897
GRCh38:
Chr11:108223170
ATMnot specifiedLikely benign
(Aug 19, 2016)
criteria provided, single submitter
27.
GRCh37:
Chr11:108093901
GRCh38:
Chr11:108223174
ATMnot specifiedLikely benign
(May 4, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr11:108093902
GRCh38:
Chr11:108223175
ATMnot specifiedLikely benign
(Sep 26, 2016)
criteria provided, single submitter
29.
GRCh37:
Chr11:108093910
GRCh38:
Chr11:108223183
ATMnot providedUncertain significance
(Oct 7, 2016)
criteria provided, single submitter
30.
GRCh37:
Chr11:108093910-108093911
GRCh38:
Chr11:108223183-108223184
ATMnot specifiedUncertain significance
(Jan 4, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr11:108093917
GRCh38:
Chr11:108223190
ATMnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
32.
GRCh37:
Chr11:108093919-108093920
GRCh38:
Chr11:108223192-108223193
ATMHereditary cancer-predisposing syndromeLikely benign
(Jun 9, 2020)
criteria provided, single submitter
33.
GRCh37:
Chr11:108093919
GRCh38:
Chr11:108223192
ATMnot specifiedLikely benign
(Feb 24, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr11:108093921
GRCh38:
Chr11:108223194
ATMnot specifiedBenign
(Mar 9, 2015)
criteria provided, single submitter
35.
GRCh37:
Chr11:108093925
GRCh38:
Chr11:108223198
ATMnot specifiedLikely benign
(Apr 28, 2017)
criteria provided, single submitter
36.
GRCh37:
Chr11:108094151
GRCh38:
Chr11:108223424
ATMnot specifiedLikely benign
(Aug 15, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr11:108094508
GRCh38:
Chr11:108223781
ATMAtaxia-telangiectasia syndromeUncertain significance
(Feb 9, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr11:108095042
GRCh38:
Chr11:108224315
ATMHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
39.
GRCh37:
Chr11:108095048
GRCh38:
Chr11:108224321
ATMHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
40.
GRCh37:
Chr11:108095695
GRCh38:
Chr11:108224968
ATMHereditary cancer-predisposing syndromeLikely benign
(Dec 1, 2015)
no assertion criteria provided
41.
GRCh37:
Chr11:108098142
GRCh38:
Chr11:108227415
ATMnot providedLikely benign
(Jun 18, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr11:108098243
GRCh38:
Chr11:108227516
ATMnot providedBenign
(Jun 21, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr11:108098269
GRCh38:
Chr11:108227542
ATMnot providedBenign
(Mar 3, 2015)
criteria provided, single submitter
44.
GRCh37:
Chr11:108098278
GRCh38:
Chr11:108227551
ATMnot providedLikely benignno assertion criteria provided
45.
GRCh37:
Chr11:108098303
GRCh38:
Chr11:108227576
ATMnot specifiedLikely benign
(Nov 17, 2016)
criteria provided, single submitter
46.
GRCh37:
Chr11:108098305
GRCh38:
Chr11:108227578
ATMnot specifiedLikely benign
(Mar 10, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr11:108098307
GRCh38:
Chr11:108227580
ATMnot specifiedLikely benign
(Jan 17, 2017)
criteria provided, single submitter
48.
GRCh37:
Chr11:108098309-108098310
GRCh38:
Chr11:108227582-108227583
ATMHereditary cancer-predisposing syndrome, not providedConflicting interpretations of pathogenicity
(Sep 20, 2021)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr11:108098318-108098321
GRCh38:
Chr11:108227591-108227594
ATMnot specifiedLikely benign
(Dec 22, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr11:108098321
GRCh38:
Chr11:108227594
ATMHereditary cancer-predisposing syndrome, Familial cancer of breast, Ataxia-telangiectasia syndrome,
not provided
Conflicting interpretations of pathogenicity
(Jun 6, 2023)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr11:108098325
GRCh38:
Chr11:108227598
ATMnot specifiedLikely benign
(Sep 22, 2016)
criteria provided, single submitter
52.
GRCh37:
Chr11:108098327
GRCh38:
Chr11:108227600
ATMnot specifiedLikely benign
(Nov 17, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr11:108098328
GRCh38:
Chr11:108227601
ATMnot specifiedLikely benign
(Feb 28, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr11:108098333
GRCh38:
Chr11:108227606
ATMHereditary cancer-predisposing syndromeUncertain significance
(Apr 4, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr11:108098334
GRCh38:
Chr11:108227607
ATMnot provided, Hereditary cancer-predisposing syndromeBenign/Likely benign
(Jan 24, 2018)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr11:108098334
GRCh38:
Chr11:108227607
ATMnot specifiedLikely benign
(Apr 14, 2016)
criteria provided, single submitter
57.
GRCh37:
Chr11:108098337
GRCh38:
Chr11:108227610
ATMHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeConflicting interpretations of pathogenicity
(Jul 10, 2019)
criteria provided, conflicting interpretations
58.
GRCh37:
Chr11:108098338
GRCh38:
Chr11:108227611
ATMHereditary cancer-predisposing syndrome, not providedConflicting interpretations of pathogenicity
(Jan 6, 2021)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr11:108098342-108117864
GRCh38:
Chr11:108227615-108247137
ATM, LOC129390352, LOC129390353Ataxia-telangiectasia syndromeUncertain significance
(Nov 11, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr11:108098342-108236245
GRCh38:
Chr11:108227615-108365518
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354Ataxia-telangiectasia syndromeUncertain significance
(Oct 19, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr11:108098342-108100060
GRCh38:
Chr11:108227615-108229333
ATMAtaxia-telangiectasia syndromePathogenic
(Feb 4, 2019)
criteria provided, single submitter
62.
GRCh37:
Chr11:108098342-108236245
GRCh38:
Chr11:108227615-108365518
ATM, C11orf65, LOC128772356, LOC129390352, LOC129390353, LOC129390354Ataxia-telangiectasia syndromePathogenic
(Dec 14, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr11:108098346-108098621
GRCh38:
Chr11:108227619-108227894
ATMAtaxia-telangiectasia syndromePathogenic
(Jan 4, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr11:108098346-108236241
GRCh38:
Chr11:108227619-108365514
C11orf65, LOC128772356, LOC129390352, LOC129390353, ATM, LOC129390354Ataxia-telangiectasia syndromeUncertain significance
(Sep 7, 2017)
criteria provided, single submitter
65.
GRCh37:
Chr11:108098346-108151901
GRCh38:
Chr11:108227619-108281174
ATM, LOC128772356, LOC129390352, LOC129390353Ataxia-telangiectasia syndromeUncertain significance
(Aug 4, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr11:108098347
GRCh38:
Chr11:108227620
ATMHereditary cancer-predisposing syndromeUncertain significance
(Dec 10, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr11:108098349
GRCh38:
Chr11:108227622
ATMHereditary cancer-predisposing syndromeUncertain significance
(Dec 20, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr11:108098350
GRCh38:
Chr11:108227623
ATMHereditary cancer-predisposing syndromeUncertain significance
(Oct 28, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr11:108098351
GRCh38:
Chr11:108227624
ATMHereditary cancer-predisposing syndrome, not specifiedUncertain significance
(Aug 15, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr11:108098351-108158442
GRCh38:
Chr11:108227624-108287715
ATM, LOC128772356, LOC129390352, LOC129390353Ataxia-telangiectasia syndromeUncertain significance
(Sep 19, 2015)
criteria provided, single submitter
71.
GRCh37:
Chr11:108098352
GRCh38:
Chr11:108227625
ATMM1LAtaxia-telangiectasia syndrome, Hereditary cancer-predisposing syndromePathogenic/Likely pathogenic
(Apr 23, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr11:108098352
GRCh38:
Chr11:108227625
ATMM1VHereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome,
Familial cancer of breast
Pathogenic/Likely pathogenic
(Feb 3, 2023)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr11:108098353
GRCh38:
Chr11:108227626
ATMM1TFamilial cancer of breastPathogenic
(Mar 16, 2022)
reviewed by expert panel
FDA Recognized Database
74.
GRCh37:
Chr11:108098354
GRCh38:
Chr11:108227627
ATMM1IHereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome
Pathogenic/Likely pathogenic
(Sep 1, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr11:108098355
GRCh38:
Chr11:108227628
ATMS2GHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeUncertain significance
(Dec 30, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr11:108098356
GRCh38:
Chr11:108227629
ATMS2NHereditary cancer-predisposing syndrome, not provided, Ataxia-telangiectasia syndrome
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr11:108098356
GRCh38:
Chr11:108227629
ATMS2Tnot specifiedUncertain significance
(Jun 23, 2014)
criteria provided, single submitter
78.
GRCh37:
Chr11:108098357
GRCh38:
Chr11:108227630
ATMS2Rnot specifiedUncertain significance
(Dec 9, 2019)
criteria provided, single submitter
79.
GRCh37:
Chr11:108098357
GRCh38:
Chr11:108227630
ATMS2RAtaxia-telangiectasia syndrome, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 18, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr11:108098358
GRCh38:
Chr11:108227631
ATMAtaxia-telangiectasia syndromeLikely benign
(Jul 15, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr11:108098359
GRCh38:
Chr11:108227632
ATML3PHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeUncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr11:108098359
GRCh38:
Chr11:108227632
ATML3fsnot provided, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
Pathogenic/Likely pathogenic
(Feb 9, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr11:108098360
GRCh38:
Chr11:108227633
ATMHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeLikely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr11:108098361
GRCh38:
Chr11:108227634
ATMV4IHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeUncertain significance
(Feb 2, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr11:108098361
GRCh38:
Chr11:108227634
ATMV4LHereditary cancer-predisposing syndromeUncertain significance
(Mar 3, 2016)
criteria provided, single submitter
86.
GRCh37:
Chr11:108098362
GRCh38:
Chr11:108227635
ATMV4AHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeConflicting interpretations of pathogenicity
(Jan 12, 2022)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr11:108098363
GRCh38:
Chr11:108227636
ATMHereditary cancer-predisposing syndromeLikely benign
(May 28, 2014)
criteria provided, single submitter
88.
GRCh37:
Chr11:108098364
GRCh38:
Chr11:108227637
ATML5FAtaxia-telangiectasia syndromeUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr11:108098364
GRCh38:
Chr11:108227637
ATML5VAtaxia-telangiectasia syndromeUncertain significance
(Feb 9, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr11:108098364-108098365
GRCh38:
Chr11:108227637-108227638
ATMN6*not provided, Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
Pathogenic
(Mar 13, 2023)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr11:108098365
GRCh38:
Chr11:108227638
ATML5Rnot specified, Hereditary cancer-predisposing syndromeUncertain significance
(Apr 26, 2023)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr11:108098365-108098372
GRCh38:
Chr11:108227638-108227645
ATML5fsHereditary cancer-predisposing syndromePathogenic
(May 24, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr11:108098366-108098367
GRCh38:
Chr11:108227639-108227640
ATMN6fsAtaxia-telangiectasia syndromePathogenic
(Jan 5, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr11:108098366
GRCh38:
Chr11:108227639
ATMAtaxia-telangiectasia syndromeLikely benign
(Dec 26, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr11:108098367-108098370
GRCh38:
Chr11:108227640-108227643
ATMN6fsAtaxia-telangiectasia syndromePathogenic
(Jan 21, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr11:108098369
GRCh38:
Chr11:108227642
ATMHereditary cancer-predisposing syndromeLikely benign
(Apr 14, 2015)
criteria provided, single submitter
97.
GRCh37:
Chr11:108098370
GRCh38:
Chr11:108227643
ATMD7HAtaxia-telangiectasia syndromeUncertain significance
(Jul 12, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr11:108098373-108098375
GRCh38:
Chr11:108227646-108227648
ATML9delAtaxia-telangiectasia syndromeUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr11:108098373
GRCh38:
Chr11:108227646
ATMHereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndromeLikely benign
(Feb 1, 2021)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr11:108098374
GRCh38:
Chr11:108227647
ATML8PAtaxia-telangiectasia syndromeUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
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