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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr5:22149-73708550
GRCh38:
Chr5:22149-74412725
LOC123497907, LOC123497908, LOC123497909, LOC126807300, LOC126807301, LOC126807323, LOC126807324, LOC126807348, LOC126807349, LOC126807350, LOC126807351, LOC126807352, LOC126807378, LOC126807404, LOC126807405, LOC128772264, LOC129389254, LOC129389283, LOC129389284, LOC129993540, LOC129993541, LOC129993569, LOC129993570, LOC129993571, LOC129993596, LOC129993597, LOC129993598, LOC129993621, LOC129993622, LOC129993623, LOC129993652, LOC129993653, LOC129993681, LOC129993682, LOC129993708, LOC129993737, LOC129993765, LOC129993766, LOC129993767, LOC129993788, LOC129993789, LOC129993790, LOC129993791, LOC129993792, LOC129993656, LOC129993657, LOC129993683, LOC129993684, LOC129993685, LOC129993626, LOC129993627, LOC129993628, LOC129993686, LOC129993687, LOC129993688, LOC129993709, LOC129993710, LOC129993711, LOC129993712, LOC129993572, LOC129993573, LOC129993574, LOC129993575, LOC129993576, LOC129993713, LOC129993714, LOC129993599, LOC129993624, LOC129993625, LOC129993600, LOC129993601, LOC129993602, LOC129389255, LOC129389256, LOC129389257, LOC129389258, LOC129993738, LOC129993739, LOC129389285, LOC129389286, LOC129389287, LOC126807382, LOC126807383, LOC126807384, LOC129389259, LOC129389260, LOC129389261, LOC129993740, LOC129993741, LOC129993742, LOC129993542, LOC129993543, LOC129389288, LOC126807353, LOC126807379, LOC126807380, LOC126807381, LOC129993544, LOC129993545, LOC129993546, LOC126807303, LOC129993654, LOC129993655, LOC124901163, LOC124901178, LOC126807280, LOC126807354, LOC126807355, LOC126807356, LOC126807302, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807281, LOC126807282, LOC126807325, LOC126807326, LOC126807327, LOC123493314, LOC123493315, LOC123493316, LOC123493317, LOC123493318, LOC123493319, LOC126807283, LOC126807304, LOC126807305, LOC126807328, LOC126807329, LOC126807330, LOC126807357, LOC126807358, LOC126807359, LOC126807360, LOC126807385, LOC126807386, LOC126807410, LOC126807411, LOC129389262, LOC129389263, LOC129389264, LOC129389289, LOC129389290, LOC129993547, LOC129993548, LOC129993549, LOC129993577, LOC129993578, LOC129993579, LOC129993603, LOC129993604, LOC129993605, LOC129993629, LOC129993630, LOC129993631, LOC129993632, LOC129993658, LOC129993659, LOC129993689, LOC129993690, LOC129993691, LOC129993715, LOC129993716, LOC129993717, LOC129993718, LOC129993743, LOC129993744, LOC129993745, LOC129993768, LOC129993769, LOC129993770, LOC129993793, LOC129993794, LOC129993795, LOC129993799, LOC129993800, LOC129993801, LOC129993802, LOC129993771, LOC129993772, LOC129993773, LOC129993774, LOC129993782, LOC129993783, LOC129993784, LOC129993787, LOC129993775, LOC129993776, LOC129993777, LOC129993778, LOC129993779, LOC129993780, LOC129993781, LOC129993785, LOC129993786, LOC129993746, LOC129993747, LOC129993748, LOC129993749, LOC129993750, LOC129993751, LOC129993752, LOC129993755, LOC129993756, LOC129993753, LOC129993754, LOC129993757, LOC129993758, LOC129993759, LOC129993760, LOC129993761, LOC129993723, LOC129993724, LOC129993725, LOC129993726, LOC129993719, LOC129993720, LOC129993721, LOC129993722, LOC129993730, LOC129993731, LOC129993732, LOC129993733, LOC129993734, LOC129993735, LOC129993736, LOC129993762, LOC129993763, LOC129993764, LOC129993698, LOC129993699, LOC129993700, LOC129993701, LOC129993702, LOC129993703, LOC129993692, LOC129993693, LOC129993694, LOC129993695, LOC129993796, LOC129993797, LOC129993798, LOC129993727, LOC129993728, LOC129993729, LOC129993696, LOC129993697, LOC129993671, LOC129993672, LOC129993673, LOC129993674, LOC129993675, LOC129993704, LOC129993705, LOC129993706, LOC129993707, LOC129993660, LOC129993661, LOC129993662, LOC129993663, LOC129993664, LOC129993676, LOC129993677, LOC129993678, LOC129993679, LOC129993680, LOC129993665, LOC129993666, LOC129993667, LOC129993668, LOC129993669, LOC129993670, LOC129993641, LOC129993642, LOC129993643, LOC129993644, LOC129993645, LOC129993650, LOC129993651, LOC129993633, LOC129993634, LOC129993635, LOC129993636, LOC129993637, LOC129993638, LOC129993639, LOC129993640, LOC129993646, LOC129993647, LOC129993610, LOC129993611, LOC129993616, LOC129993617, LOC129993618, LOC129993608, LOC129993609, LOC129993612, LOC129993613, LOC129993614, LOC129993615, LOC129993606, LOC129993607, LOC129993587, LOC129993588, LOC129993589, LOC129993590, LOC129993591, LOC129993592, LOC129993585, LOC129993586, LOC129993593, LOC129993594, LOC129993595, LOC129993619, LOC129993620, LOC129993648, LOC129993649, LOC129993580, LOC129993566, LOC129993567, LOC129993568, LOC129993555, LOC129993556, LOC129993560, LOC129993561, LOC129993562, LOC129993563, LOC129993564, LOC129993565, LOC129993581, LOC129993582, LOC129993583, LOC129993584, LOC129993557, LOC129993558, LOC129993559, LOC129389293, LOC129389294, LOC129389296, LOC129993534, LOC129993535, LOC129993536, LOC129993537, LOC129993538, LOC129993539, LOC129993550, LOC129993551, LOC129993552, LOC129993553, LOC129993554, LOC129389299, LOC129993528, LOC129993529, LOC129993530, LOC129993531, LOC129389297, LOC129389298, LOC129389265, LOC129389266, LOC129389267, LOC129389268, LOC129389269, LOC129389270, LOC129993532, LOC129993533, LOC129389275, LOC129389276, LOC129389277, LOC129389278, LOC129389271, LOC129389272, LOC129389273, LOC129389274, LOC129389279, LOC129389280, LOC129389281, LOC129389282, LOC126807412, LOC126807413, LOC126807414, LOC126807421, LOC127402905, LOC128462395, LOC128667222, LOC128772262, LOC126807415, LOC126807416, LOC126807417, LOC126807418, LOC126807419, LOC126807420, LOC126807402, LOC126807403, LOC128772263, LOC126807387, LOC126807388, LOC126807389, LOC126807390, LOC126807391, LOC126807392, LOC126807393, LOC126807397, LOC126807398, LOC126807399, LOC126807400, LOC126807401, LOC129389291, LOC129389292, LOC126807394, LOC126807395, LOC126807362, LOC126807363, LOC126807364, LOC126807372, LOC126807373, LOC126807374, LOC126807366, LOC126807367, LOC126807368, LOC126807369, LOC126807370, LOC126807375, LOC126807376, LOC126807377, LOC126807365, LOC126807371, LOC126807396, LOC126807361, LOC126807344, LOC126807345, LOC126807335, LOC126807336, LOC126807337, LOC126807338, LOC126807339, LOC126807340, LOC126807341, LOC126807346, LOC126807347, LOC126807331, LOC126807332, LOC126807333, LOC126807334, LOC126807342, LOC126807343, LOC126807312, LOC126807316, LOC126807317, LOC126807318, LOC126807319, LOC126807320, LOC126807321, LOC126807322, LOC126807306, LOC126807307, LOC126807308, LOC126807309, LOC126807310, LOC126807311, LOC126807313, LOC126807314, LOC126807315, LOC126807295, LOC126807296, LOC126807297, LOC126807289, LOC126807290, LOC126807298, LOC126807299, LOC126807284, LOC126807285, LOC126807286, LOC126807287, LOC126807288, LOC126807291, LOC126807292, LOC126807293, LOC126807294, LOC123493324, LOC123493325, LOC123493326, LOC123493330, LOC123493331, LOC123493320, LOC123493321, LOC123493327, LOC123493329, LOC123493322, LOC123493323, LOC123493332, LOC123493333, LOC123493334, LOC123493335, LOC123497905, LOC123497906, LOC123493308, LOC123493309, LOC123493310, LOC123493311, LOC123493312, LOC123493313, LOC129993803, LOC129993804, LOC129993805, LOC129993806, LOC129993807, LOC129993808, LOC129993809, LOC129993810, LOC129993811, LOC129993812, LOC129993813, LOC129993814, LOC129993815, LOC129993816, LOC129993817, LOC129993818, LOC129993819, LOC129993820, LOC129993821, LOC129993822, LOC129993823, LOC129993824, LOC129993825, LOC129993826, LOC129993827, LOC129993828, LOC129993829, LOC129993830, LOC129993831, LOC129993832, LOC129993833, LOC129993834, LOC129993835, LOC129993836, LOC129993837, LOC129993838, LOC129993839, LOC129993840, LOC129993841, LOC129993842, LOC129993843, LOC129993844, LOC129993845, LOC129993846, LOC129993847, LOC129993848, LOC129993849, LOC129993850, LOC129993851, LOC129993852, LOC129993853, LOC129993854, LOC129993855, LOC129993856, LOC129993857, LOC129993858, LOC129993859, LOC129993860, LOC129993861, LOC129993862, LOC129993863, LOC129993864, LOC129993865, LOC129993866, LOC129993867, LOC129993868, LOC129993869, LOC129993870, LOC129993871, LOC129993872, LOC129993873, LOC129993874, LOC129993875, LOC129993876, LOC129993877, LOC129993878, LOC129993879, LOC129993880, LOC129993881, LOC129993882, LOC129993883, LOC129993884, LOC129993885, LOC129993886, LOC129993887, LOC129993888, LOC129993889, LOC129993890, LOC129993891, LOC129993892, LOC129993893, LOC129993894, LOC129993895, LOC129993896, LOC129993897, LOC129993898, LOC129993899, LOC129993900, LOC129993901, LOC129993902, LOC129993903, LOC129993904, LOC129993905, LOC129993906, LOC129993907, LOC129993908, LOC129993909, LOC129993910, LOC129993911, LOC129993912, LOC129993913, LOC129993914, LOC129993915, LOC129993916, LOC129993917, LOC129993918, LOC129993919, LOC129993920, LOC129993921, LOC129993922, LOC129993923, LOC129993924, LOC129993925, LOC129993926, LOC129993927, LOC129993928, LOC129993929, LOC129993930, LOC129993931, LOC129993932, LOC129993933, LOC129993934, LOC129993935, LOC129993936, LOC129993937, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993954, LOC129993955, LOC129993956, LOC129993957, LOC129993958, LOC129993959, LOC129993960, LOC129993961, LOC129993962, LOC129993963, LOC129993964, LOC129993965, LOC129993966, LOC129993967, LOC129993968, LOC129993969, LOC129993970, LOC129993971, LOC129993972, LOC129993973, LOC129993974, LOC129993975, LOC129993976, LOC129993977, LOC129993978, LOC129993979, LOC129993980, LOC129993981, LOC129993982, LOC129993983, LOC129993984, LOC129993985, LOC129993986, LOC129993987, LOC129993988, LOC129993989, LOC129993990, LOC129993991, LOC129993992, LOC129993993, LOC129993994, LOC129993995, LOC129993996, LOC129993997, LOC129993998, LOC129993999, LOC129994000, LOC129994001, LOC129994002, LOC129994003, LOC129994004, LOC129994005, LOC129994006, LOC129994007, LOC129994008, LOC129994009, LOC129994010, LOC129994011, LOC129994012, LOC129994013, LOC129994014, LOC129994015, LOC129994016, LOC129994017, LOC129994018, LOC129994019, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, LOC129994027, LOC129994028, LOC129994029, LOC129994030, LOC129994031, LOC129994032, LOC129994033, LOC129994034, LOC129994035, LOC129994036, LOC129994037, LOC129994038, LOC129994039, LOC129994040, LOC129994041, LOC129994042, LOC129994043, LOC129994044, LOC129994045, LOC129994046, LOC129994047, LOC129994048, LOC129994049, LOC132089161, LOC132089229, LOC132089231, LOC132089232, LOC132089233, LOC132089234, LOC132089235, LOC132089236, LOC132089237, LOC132089238, LOC132089239, LOC132089240, LOC132089241, LOC132089242, LOC132089243, LOC132089244, LOC132089245, LOC132089246, LOC132089247, LOC132089248, LOC132089249, LOC132089250, LOC132089251, LOC132089252, LOC132089253, LOC132089254, LOC132089255, LOC132089256, LOC132089257, LOC132089258, LOC132089259, LOC132089260, LOC132089261, LOC132089262, LOC132089263, LOC132089264, LOC132089265, LOC132089266, LOC132089267, LOC132089268, LOC132089269, LOC132089270, LOC132089271, LOC132089272, LOC132089273, LOC132089274, LOC132089275, LOC132089276, LOC132089277, LOC132089278, LOC132089279, LOC132089280, LOC132089281, LOC132089282, LOC132089283, LOC132089284, LOC132089285, LOC132089286, LOC132089287, LOC132089288, LOC132089289, LOC132089290, LOC132089291, LOC132089292, LOC132089293, LOC132089294, LOC132089295, LOC132089296, LOC132089297, LOC132089298, LOC132089299, LOC132089300, LOC132089301, LOC132089302, LOC132089303, LOC132090719, LOC132090720, LOC132090721, LOC132090722, LOC132090723, LOC132090724, LOC132090725, LOC132090726, LOC132090727, LOC132090728, LOC132090729, LOC132090730, LOC132090731, LOC132205959, LOC132205960, LOC340090, LPCAT1, LRRC14B, LRRC70, LSINCT5, MAP1B, MAP3K1, MARCHF11, MARCHF11-DT, MARCHF6, MARCHF6-DT, MARVELD2, MAST4, MAST4-AS1, MCCC2, MCIDAS, MED10, MIER3, MIR10397, MIR10522, MIR3650, MIR4277, MIR4278, MIR4279, MIR4456, MIR4457, MIR4458, MIR4458HG, MIR449A, MIR449B, MIR449C, MIR4635, MIR4636, MIR4637, MIR4803, MIR4804, MIR548AE2, MIR5687, MIR579, MIR580, MIR581, MIR582, MIR6075, MIR6131, MIR887, MNS16A, MOCS2, MOCS2-DT, MROH2B, MRPL36, MRPS27, MRPS30, MRPS30-DT, MTMR12, MTREX, MTRR, MYO10, NADK2, NADK2-AS1, NAIP, NDUFAF2, NDUFS4, NDUFS6, NIM1K, NIPBL, NIPBL-DT, NKD2, NLN, NNT, NNT-AS1, NPR3, NSUN2, NUP155, OCLN, OSMR, OSMR-DT, OTULIN, OTULIN-DT, OTULINL, OXCT1, OXCT1-AS1, PAIP1, PARP8, PART1, PDCD6, PDCD6-AHRR, PDCD6-DT, PDE4D, PDZD2, PELO, PELO-AS1, PIK3R1, PLCXD3, PLEKHG4B, PLK2, PLPP1, PPWD1, PRDM9, PRKAA1, PRLR, PTCD2, PTGER4, PURPL, RAB3C, RAD1, RAD17, RAI14, RAI14-DT, RANBP3L, RETREG1, RETREG1-AS1, RGS7BP, RICTOR, RIMOC1, RMEL3, RNF180, ROPN1L, ROPN1L-AS1, RPL37, RXFP3, SDHA, SELENOP, SEMA5A, SEMA5A-AS1, SERF1A, SERF1B, SETD9, SGTB, SHISAL2B, SHLD3, SKP2, SLC12A7, SLC1A3, SLC30A5, SLC38A9, SLC45A2, SLC6A18, SLC6A19, SLC6A3, SLC9A3, SLC9A3-AS1, SLC9A3-OT1, SMIM15, SMIM15-AS1, SMN-AS1, SMN1, SMN2, SNHG18, SNORA105A, SNORA50D, SNORD123, SNORD13B-1, SNORD13B-2, SNORD141B, SNORD170, SNORD72, SNX18, SPEF2, SRD5A1, SREK1, SREK1IP1, SUB1, TAF11L10, TAF11L11, TAF11L12, TAF11L13, TAF11L14, TAF11L2, TAF11L3, TAF11L4, TAF11L5, TAF11L6, TAF11L7, TAF11L8, TAF11L9, TAF9, TARS1, TAS2R1, TENT4A, TERLR1, TERT, TILRLS, TMEM171, TMEM174, TMEM267, TNPO1, TNPO1-DT, TPPP, TRAPPC13, TRIM23, TRIO, TRIP13, TRK-CTT9-1, TTC23L, TTC23L-AS1, TTC33, UBE2QL1, UGT3A1, UGT3A2, UTP15, WDR70, ZDHHC11, ZDHHC11B, ZFR, ZNF131, ZNF366, ZNF622, ZSWIM6, ACTBL2, ADAMTS12, ADAMTS16, ADAMTS16-DT, ADAMTS6, ADCY2, AGXT2, AHRR, AK6, AMACR, ANKH, ANKRA2, ANKRD33B, ANKRD55, ANXA2R, ANXA2R-AS1, ANXA2R-OT1, ARHGEF28, ARL15, ATPSCKMT, BASP1, BASP1-AS1, BDP1, BRD9, BRIX1, BTF3, BTF3-DT, C1QTNF3, C1QTNF3-AMACR, C5orf22, C5orf34, C5orf34-AS1, C5orf67, C6, C7, C9, CAPSL, CAPSL-DT, CARD6, CARTPT, CCDC125, CCDC127, CCDC152, CCL28, CCNB1, CCNO, CCNO-DT, CCT5, CD180, CDC20B, CDH10, CDH12, CDH18, CDH18-AS1, CDH6, CDH9, CDK7, CENPH, CENPK, CEP72, CEP72-DT, CFAP90, CLPTM1L, CMBL, CPLANE1, CPLANE1-AS1, CREST1, CREST2, CREST3, CTD-2154B17.1, CTD-2194D22.4, CTD-2350J17.1, CTNND2, CWC27, DAB2, DAP, DAP-DT, DDX4, DEPDC1B, DHX29, DIMT1, DNAH5, DNAJC21, DROSHA, EGFLAM, EGFLAM-AS1, EGFLAM-AS2, EGFLAM-AS4, ELOVL7, EMB, ERBIN, ERCC8, ERCC8-AS1, ESM1, EXOC3, EXOC3-AS1, FASTKD3, FBXL7, FBXO4, FCHO2, FCHO2-DT, FGF10, FGF10-AS1, FGF10-INT1, FLJ32255, FOXD1, FST, FYB1, GAPT, GDNF, GDNF-AS1, GHR, GOLPH3, GPBP1, GPX8, GTF2H2, GTF2H2C, GZMA, GZMK, H3Y1, H3Y2, HCN1, HMGCS1, HSPB3, HTR1A, ICE1, IL31RA, IL6ST, IL6ST-DT, IL7R, IPO11, IPO11-LRRC70, IRX1, IRX2, IRX2-DT, IRX4, IRX4-AS1, ISL1, ISL1-DT, ITGA1, ITGA2, ITGA2-AS1, KGD4, KIF2A, LIFR, LIFR-AS1, LINC00603, LINC00604, LINC01017, LINC01018, LINC01019, LINC01020, LINC01033, LINC01157, LINC01194, LINC01265, LINC01331, LINC01333, LINC01335, LINC01377, LINC01386, LINC01511, LINC01948, LINC02057, LINC02061, LINC02063, LINC02064, LINC02065, LINC02101, LINC02102, LINC02103, LINC02104, LINC02105, LINC02106, LINC02107, LINC02108, LINC02109, LINC02110, LINC02111, LINC02112, LINC02114, LINC02116, LINC02118, LINC02119, LINC02120, LINC02121, LINC02122, LINC02123, LINC02142, LINC02145, LINC02146, LINC02149, LINC02150, LINC02160, LINC02162, LINC02197, LINC02198, LINC02199, LINC02211, LINC02212, LINC02213, LINC02217, LINC02218, LINC02219, LINC02220, LINC02221, LINC02223, LINC02224, LINC02225, LINC02226, LINC02228, LINC02229, LINC02230, LINC02236, LINC02239, LINC02241, LINC02242, LINC02899, LINC02982, LINC02996, LINC02997, LINC02998, LINC03122, LINC03123, LMBRD2, LNCBRM, LOC100130744, LOC100132356, LOC100506639, LOC100506858, LOC101928505, LOC101928651, LOC101928924, LOC101929645, LOC102467081, LOC102503427, LOC105374618, LOC105374620, LOC105374629, LOC105374642, LOC105374645, LOC105374647, LOC105374655, LOC105374704, LOC105374715, LOC105374748, LOC105378979, LOC105378997, LOC105379030, LOC106029242, LOC107457585, LOC107758904, LOC107963949, LOC107963950, LOC108175340, LOC108175341, LOC108251796, LOC108254683, LOC108281130, LOC108281172, LOC108348025, LOC109286569, LOC110120635, LOC110120690, LOC110120695, LOC110120697, LOC110120712, LOC110120713, LOC110120722, LOC110120760, LOC110121020, LOC110121055, LOC110121060, LOC110121170, LOC110806263, LOC110806264, LOC111089946, LOC111365172, LOC111365215, LOC111501791, LOC111556106, LOC111556114, LOC111556121, LOC111828522, LOC112997548, LOC112997549, LOC112997550, LOC112997551, LOC112997585, LOC112997586, LOC112997587, LOC112997588, LOC112997589, LOC112997590, LOC112997591, LOC112997592, LOC112997593, LOC112997594, LOC112997595, LOC112997596, LOC113002585, LOC113002586, LOC113002587, LOC113002588, LOC113002589, LOC113002590, LOC113002591, LOC114004392, LOC114004393, LOC114004394, LOC114803477, LOC114827820, LOC114827841, LOC116158511, LOC116158512, LOC116158513, LOC116158514, LOC116158515, LOC116158516, LOC116158517, LOC116158518, LOC121056758, LOC121056759, LOC121056760, LOC121056761, LOC121056762, LOC121056763, LOC121056764, LOC121056765, LOC121056766, LOC121079939, LOC121079940, LOC121079941, LOC121079942, LOC121079943, LOC121079944, LOC121079945, LOC121725197, LOC121725198, LOC121725199, LOC121725200, LOC121725201, LOC121725202, LOC121725203, LOC121725204, LOC121725205, LOC121725206, LOC121725207, LOC123493256, LOC123493257, LOC123493258, LOC123493259, LOC123493260, LOC123493261, LOC123493262, LOC123493263, LOC123493264, LOC123493265, LOC123493266, LOC123493267, LOC123493268, LOC123493269, LOC123493270, LOC123493271, LOC123493272, LOC123493273, LOC123493274, LOC123493275, LOC123493276, LOC123493277, LOC123493278, LOC123493279, LOC123493280, LOC123493281, LOC123493282, LOC123493283, LOC123493284, LOC123493285, LOC123493286, LOC123493287, LOC123493288, LOC123493289, LOC123493290, LOC123493291, LOC123493292, LOC123493293, LOC123493294, LOC123493295, LOC123493296, LOC123493297, LOC123493298, LOC123493299, LOC123493300, LOC123493301, LOC123493302, LOC123493303, LOC123493304, LOC123493305, LOC123493306, LOC123493307
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh38:
Chr5:58780641-73523380
LINC02219, LINC02229, LOC123497905, LOC123497906, LOC129993954, LOC129993955, LOC129993995, LOC129993996, LOC129994036, SNORD13B-1, SNORD13B-2, SREK1, SREK1IP1, TAF9, TILRLS, LOC129994042, LOC129994043, LOC132089288, LOC340090, LRRC70, MAP1B, LOC129994037, LOC129994038, LOC129994044, LOC129994045, MARVELD2, LOC129994002, LOC129994003, LOC129994005, LOC129994006, LOC129994007, LOC129994008, LOC129994009, LOC129994010, LOC129994011, MAST4, MAST4-AS1, LOC129994039, LOC129994040, LOC129994041, LOC129993997, LOC129993998, LOC129993999, LOC129994004, LOC129993969, LOC129993970, LOC129993959, LOC129993960, LOC129993961, LOC129993964, LOC129993965, LOC129993966, LOC129993967, LOC129993968, LOC129994000, LOC129994001, LOC129993956, LOC129993957, LOC126807405, LOC126807406, LOC126807407, LOC126807408, LOC126807409, LOC126807410, LOC126807411, LOC126807412, LOC126807413, LOC126807414, LOC126807417, LOC126807415, LOC126807416, LOC126807418, LOC126807419, LOC129389287, LOC129993958, LOC126807403, LOC126807404, LOC121079940, LOC121079941, LOC129993962, LOC129993963, LOC105378997, LINC02230, LINC02242, LOC105379030, LOC111089946, LOC111556106, LOC113002588, LOC113002589, LOC113002590, LOC113002591, LOC114004394, LOC116158518, LOC121079939, AK6, LINC02997, LINC03122, LINC03123, LOC101928651, LOC101928924, LOC102503427, ADAMTS6, BDP1, BTF3, BTF3-DT, CARTPT, CCDC125, CCNB1, CD180, CDK7, CENPH, CENPK, CWC27, DEPDC1B, DIMT1, ELOVL7, ERBIN, ERCC8, ERCC8-AS1, FCHO2, FCHO2-DT, FOXD1, GTF2H2, GTF2H2C, HTR1A, IPO11, IPO11-LRRC70, KGD4, KIF2A, LINC01386, LINC02057, LINC02065, LINC02197, LINC02198, LOC121079942, LOC121079943, LOC121079944, LOC121079945, LOC121725205, LOC121725206, LOC121725207, LOC123493319, LOC123493320, LOC123493321, LOC123493322, LOC123493323, LOC123493324, LOC123493325, LOC123493326, LOC123493327, LOC123493329, LOC123493330, LOC123493331, LOC123493332, LOC123493333, LOC123493334, LOC123493335, LOC129389288, LOC129389289, LOC129389290, LOC129389291, LOC129389292, LOC129389293, LOC129389294, LOC129389296, LOC129993938, LOC129993939, LOC129993940, LOC129993941, LOC129993942, LOC129993943, LOC129993944, LOC129993945, LOC129993946, LOC129993947, LOC129993948, LOC129993949, LOC129993950, LOC129993951, LOC129993952, LOC129993953, LOC129993971, LOC129993972, LOC129993973, LOC129993974, LOC129993975, LOC129993976, LOC129993977, LOC129993978, LOC129993979, LOC129993980, LOC129993981, LOC129993982, LOC129993983, LOC129993984, LOC129993985, LOC129993986, LOC129993987, LOC129993988, LOC129993989, LOC129993990, LOC129993991, LOC129993992, LOC129993993, LOC129993994, LOC129994012, LOC129994013, LOC129994014, LOC129994015, LOC129994016, LOC129994017, LOC129994018, LOC129994019, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, LOC129994027, LOC129994028, LOC129994029, LOC129994030, LOC129994031, LOC129994032, LOC129994033, LOC129994034, LOC129994035, MCCC2, MIR4803, MIR4804, MIR582, MRPS27, NAIP, NDUFAF2, NLN, OCLN, PART1, PDE4D, PIK3R1, PPWD1, PTCD2, RAB3C, RAD17, RGS7BP, RNF180, SERF1A, SERF1B, SGTB, SHISAL2B, SHLD3, SLC30A5, SMIM15, SMIM15-AS1, SMN-AS1, SMN1, SMN2, SNORA50D, TMEM171, TMEM174, TNPO1, TNPO1-DT, TRAPPC13, TRIM23, ZNF366, ZSWIM6
Intellectual disabilityLikely pathogenicno assertion criteria provided
3.
GRCh37:
Chr5:62502939-70587018
GRCh38:
Chr5:63207112-71291191
ADAMTS6, AK6, CCDC125, CCNB1, CD180, CDK7, CENPH, CENPK, CWC27, ERBIN, GTF2H2, GTF2H2C, HTR1A, KGD4, LINC02065, LINC02198, LINC02219, LINC02229, LINC02242, LINC02997, LOC101928924, LOC111089946, LOC111556106, LOC113002588, LOC113002589, LOC113002590, LOC121079939, LOC121079940, LOC121079941, LOC121079942, LOC121079943, LOC121725205, LOC121725206, LOC123493324, LOC123493325, LOC123493326, LOC123493327, LOC123493329, LOC123493330, LOC123493331, LOC123493332, LOC123493333, LOC123493334, LOC126807408, LOC126807409, LOC126807410, LOC126807411, LOC126807412, LOC126807413, LOC126807414, LOC126807415, LOC126807416, LOC126807417, LOC129389291, LOC129389292, LOC129389293, LOC129389294, LOC129993965, LOC129993966, LOC129993967, LOC129993968, LOC129993969, LOC129993970, LOC129993971, LOC129993972, LOC129993973, LOC129993974, LOC129993975, LOC129993976, LOC129993977, LOC129993978, LOC129993979, LOC129993980, LOC129993981, LOC129993982, LOC129993983, LOC129993984, LOC129993985, LOC129993986, LOC129993987, LOC129993988, LOC129993989, LOC129993990, LOC129993991, LOC129993992, LOC129993993, LOC129993994, LOC129993995, LOC129993996, LOC129993997, LOC129993998, LOC129993999, LOC129994000, LOC129994001, LOC129994002, LOC129994003, LOC129994004, LOC129994005, LOC129994006, LOC129994007, LOC129994008, LOC129994009, LOC129994010, LOC129994011, LOC129994012, LOC129994013, LOC129994014, LOC129994015, LOC129994016, LOC129994017, LOC129994018, LOC129994019, MARVELD2, MAST4, MAST4-AS1, NAIP, NLN, OCLN, PIK3R1, PPWD1, RAD17, RGS7BP, RNF180, SERF1A, SERF1B, SGTB, SHISAL2B, SHLD3, SLC30A5, SMN-AS1, SMN1, SMN2, SNORA50D, SNORD13B-1, SNORD13B-2, SREK1, SREK1IP1, TAF9, TILRLS, TRAPPC13, TRIM23
See casesLikely pathogenic
(Feb 18, 2011)
no assertion criteria provided
4.
GRCh37:
Chr5:64228590-68791331
GRCh38:
Chr5:64932763-69495504
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr5:65271952-70613301
GRCh38:
Chr5:65976124-71317474
See casesUncertain significance
(Aug 14, 2012)
no assertion criteria provided
6.
GRCh37:
Chr5:67521935
GRCh38:
Chr5:68226107
PIK3R1not providedLikely benign
(Jul 11, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr5:67522224
GRCh38:
Chr5:68226396
PIK3R1not providedLikely benign
(Jan 16, 2019)
criteria provided, single submitter
8.
GRCh37:
Chr5:67522512
GRCh38:
Chr5:68226684
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Feb 12, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr5:67522528
GRCh38:
Chr5:68226700
PIK3R1R9Gnot providedUncertain significance
(Mar 1, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr5:67522532
GRCh38:
Chr5:68226704
PIK3R1A10Vnot specified, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome,
Immunodeficiency 36
Uncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
11.
GRCh37:
Chr5:67522533
GRCh38:
Chr5:68226705
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Jun 9, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr5:67522536
GRCh38:
Chr5:68226708
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Likely benign
(Jul 30, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr5:67522565
GRCh38:
Chr5:68226737
PIK3R1D21Vnot providedUncertain significance
(Oct 20, 2020)
criteria provided, single submitter
14.
GRCh37:
Chr5:67522568
GRCh38:
Chr5:68226740
PIK3R1I22TSHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(Sep 16, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr5:67522591
GRCh38:
Chr5:68226763
PIK3R1Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Likely benign
(Feb 11, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr5:67522607-67522608
GRCh38:
Chr5:68226779-68226780
PIK3R1G35DAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Jul 3, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr5:67522607
GRCh38:
Chr5:68226779
PIK3R1G35Anot provided, SHORT syndrome, Immunodeficiency 36,
Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(Apr 19, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr5:67522611
GRCh38:
Chr5:68226783
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Jul 26, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr5:67522622
GRCh38:
Chr5:68226794
PIK3R1L40PAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Sep 20, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr5:67522654
GRCh38:
Chr5:68226826
PIK3R1E51KImmunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Uncertain significance
(Aug 30, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr5:67522660
GRCh38:
Chr5:68226832
PIK3R1I53VAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr5:67522665
GRCh38:
Chr5:68226837
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Sep 10, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr5:67522671
GRCh38:
Chr5:68226843
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Likely benign
(Apr 5, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr5:67522673
GRCh38:
Chr5:68226845
PIK3R1N57SAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Jul 27, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr5:67522688
GRCh38:
Chr5:68226860
PIK3R1T62ISHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr5:67522698
GRCh38:
Chr5:68226870
PIK3R1not provided, SHORT syndrome, Immunodeficiency 36,
Agammaglobulinemia 7, autosomal recessive
Benign/Likely benign
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr5:67522699-67522700
GRCh38:
Chr5:68226871-68226872
PIK3R1D68fsnot providedPathogenic
(Mar 1, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr5:67522700
GRCh38:
Chr5:68226872
PIK3R1R66Knot specifiedUncertain significance
(Feb 27, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr5:67522701
GRCh38:
Chr5:68226873
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Sep 27, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr5:67522703
GRCh38:
Chr5:68226875
PIK3R1G67ESHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr5:67522705
GRCh38:
Chr5:68226877
PIK3R1D68HImmunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(Sep 28, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr5:67522705
GRCh38:
Chr5:68226877
PIK3R1D68NSHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(Sep 2, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr5:67522712
GRCh38:
Chr5:68226884
PIK3R1P70LAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36,
not provided
Uncertain significance
(Apr 6, 2023)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr5:67522713
GRCh38:
Chr5:68226885
PIK3R1Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Likely benign
(Aug 19, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr5:67522716
GRCh38:
Chr5:68226888
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Oct 13, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr5:67522722
GRCh38:
Chr5:68226894
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36,
Immunodeficiency 36, not specified, SHORT syndrome,
Agammaglobulinemia 7, autosomal recessive, not provided
Benign/Likely benign
(Nov 12, 2023)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr5:67522723
GRCh38:
Chr5:68226895
PIK3R1V74ISHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Nov 21, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr5:67522752
GRCh38:
Chr5:68226924
PIK3R1Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Likely benign
(Jul 9, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr5:67522754
GRCh38:
Chr5:68226926
PIK3R1P84RSHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Dec 13, 2019)
criteria provided, single submitter
40.
GRCh37:
Chr5:67522754
GRCh38:
Chr5:68226926
PIK3R1P84Lnot providedUncertain significance
(Jul 27, 2017)
criteria provided, single submitter
41.
GRCh37:
Chr5:67522760
GRCh38:
Chr5:68226932
PIK3R1T86IAgammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Uncertain significance
(Jun 20, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr5:67522767
GRCh38:
Chr5:68226939
PIK3R1SHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive
Likely benign
(Jun 15, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr5:67522770
GRCh38:
Chr5:68226942
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Oct 17, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr5:67522781
GRCh38:
Chr5:68226953
PIK3R1R93QSHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Sep 23, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr5:67522794
GRCh38:
Chr5:68226966
PIK3R1Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Likely benign
(Sep 14, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr5:67522794
GRCh38:
Chr5:68226966
PIK3R1not specifiedLikely benign
(Dec 2, 2015)
criteria provided, single submitter
47.
GRCh37:
Chr5:67522808
GRCh38:
Chr5:68226980
PIK3R1S102LAgammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome,
not provided
Conflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
48.
GRCh37:
Chr5:67522809
GRCh38:
Chr5:68226981
PIK3R1Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Benign
(Nov 2, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr5:67522829-67522831
GRCh38:
Chr5:68227001-68227003
PIK3R1Q111delAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Feb 18, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr5:67522833
GRCh38:
Chr5:68227005
PIK3R1Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Likely benign
(Aug 11, 2021)
criteria provided, single submitter
51.
GRCh37:
Chr5:67522835
GRCh38:
Chr5:68227007
PIK3R1Q111RSHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Sep 6, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr5:67522841
GRCh38:
Chr5:68227013
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Apr 30, 2020)
criteria provided, single submitter
53.
GRCh37:
Chr5:67522841-67522846
GRCh38:
Chr5:68227013-68227018
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Sep 2, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr5:67522844
GRCh38:
Chr5:68227016
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Oct 2, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr5:67522849
GRCh38:
Chr5:68227021
PIK3R1Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Benign
(Oct 25, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr5:67522851-67522852
GRCh38:
Chr5:68227023-68227024
PIK3R1Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Likely benign
(Dec 28, 2020)
criteria provided, single submitter
57.
GRCh37:
Chr5:67522851
GRCh38:
Chr5:68227023
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36,
Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive,
not specified, not provided
Benign/Likely benign
(Nov 12, 2023)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr5:67522855
GRCh38:
Chr5:68227027
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Jul 1, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr5:67522855
GRCh38:
Chr5:68227027
PIK3R1Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Likely benign
(Oct 3, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr5:67522920
GRCh38:
Chr5:68227092
PIK3R1not providedBenign
(Mar 24, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr5:67535810
GRCh38:
Chr5:68239982
PIK3R1not specifiedBenign
(Nov 12, 2023)
criteria provided, single submitter
62.
GRCh37:
Chr5:67569020
GRCh38:
Chr5:68273192
PIK3R1not providedLikely benign
(Nov 27, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr5:67569201
GRCh38:
Chr5:68273373
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Aug 10, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr5:67569224
GRCh38:
Chr5:68273396
PIK3R1T114IImmunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Uncertain significance
(Jul 24, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr5:67569226
GRCh38:
Chr5:68273398
PIK3R1L115FSHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(May 6, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr5:67569226
GRCh38:
Chr5:68273398
PIK3R1L115VImmunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(Oct 9, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr5:67569229
GRCh38:
Chr5:68273401
PIK3R1P116TAgammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome,
not provided
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr5:67569230
GRCh38:
Chr5:68273402
PIK3R1P116LAgammaglobulinemia 7, autosomal recessive, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36,
SHORT syndrome
Uncertain significance
(Aug 10, 2023)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr5:67569231
GRCh38:
Chr5:68273403
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Likely benign
(Oct 19, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr5:67569234
GRCh38:
Chr5:68273406
PIK3R1Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive
Likely benign
(May 21, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr5:67569252
GRCh38:
Chr5:68273424
PIK3R1Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome
Likely benign
(Apr 12, 2020)
criteria provided, single submitter
72.
GRCh37:
Chr5:67569259
GRCh38:
Chr5:68273431
PIK3R1D126NAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(May 12, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr5:67569269
GRCh38:
Chr5:68273441
PIK3R1P129LAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Sep 16, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr5:67569270
GRCh38:
Chr5:68273442
PIK3R1Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Likely benign
(Oct 23, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr5:67569280
GRCh38:
Chr5:68273452
PIK3R1I133Vnot providedUncertain significance
(Feb 28, 2020)
criteria provided, single submitter
76.
GRCh37:
Chr5:67569281
GRCh38:
Chr5:68273453
PIK3R1I133TAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Apr 9, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr5:67569282
GRCh38:
Chr5:68273454
PIK3R1I133MImmunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Uncertain significance
(May 4, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr5:67569286
GRCh38:
Chr5:68273458
PIK3R1L135FSHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive
Uncertain significance
(Mar 3, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr5:67569288
GRCh38:
Chr5:68273460
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Aug 19, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr5:67569289
GRCh38:
Chr5:68273461
PIK3R1V136LAgammaglobulinemia 7, autosomal recessive, Immunodeficiency 36, SHORT syndrome,
PIK3R1-related condition
Uncertain significance
(Apr 25, 2023)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr5:67569289
GRCh38:
Chr5:68273461
PIK3R1V136Mnot specifiedUncertain significance
(Sep 15, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr5:67569314
GRCh38:
Chr5:68273486
PIK3R1Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Uncertain significance
(Sep 29, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr5:67569315
GRCh38:
Chr5:68273487
PIK3R1not specified, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive,
Immunodeficiency 36, not provided
Likely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr5:67569316
GRCh38:
Chr5:68273488
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(Sep 15, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr5:67569342
GRCh38:
Chr5:68273514
PIK3R1not providedLikely benign
(Nov 10, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr5:67569391
GRCh38:
Chr5:68273563
PIK3R1not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr5:67569479
GRCh38:
Chr5:68273651
PIK3R1not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr5:67569484
GRCh38:
Chr5:68273656
PIK3R1not providedLikely benign
(Nov 10, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr5:67569602
GRCh38:
Chr5:68273774
PIK3R1not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr5:67569746
GRCh38:
Chr5:68273918
PIK3R1not provided, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive,
not specified, Immunodeficiency 36
Benign
(Nov 12, 2023)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr5:67569761
GRCh38:
Chr5:68273933
PIK3R1Immunodeficiency 36, SHORT syndrome, Agammaglobulinemia 7, autosomal recessive,
not provided
Conflicting interpretations of pathogenicity
(Jan 1, 2023)
criteria provided, conflicting interpretations
92.
GRCh37:
Chr5:67569784
GRCh38:
Chr5:68273956
PIK3R1SHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Likely benign
(Jan 28, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr5:67569789
GRCh38:
Chr5:68273961
PIK3R1Y150*Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive, SHORT syndrome
Pathogenic
(May 7, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr5:67569789
GRCh38:
Chr5:68273961
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Feb 25, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr5:67569794
GRCh38:
Chr5:68273966
PIK3R1T152KAgammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Uncertain significance
(May 15, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr5:67569807
GRCh38:
Chr5:68273979
PIK3R1Agammaglobulinemia 7, autosomal recessive, SHORT syndrome, Immunodeficiency 36
Likely benign
(Sep 10, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr5:67569812
GRCh38:
Chr5:68273984
PIK3R1L158PInborn genetic diseasesLikely benign
(Apr 7, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr5:67569823
GRCh38:
Chr5:68273995
PIK3R1R162*SHORT syndrome, Immunodeficiency 36, Agammaglobulinemia 7, autosomal recessive
Pathogenic
(Aug 18, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr5:67569824
GRCh38:
Chr5:68273996
PIK3R1R162LSHORT syndrome, Agammaglobulinemia 7, autosomal recessive, Immunodeficiency 36
Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr5:67569842
GRCh38:
Chr5:68274014
PIK3R1SHORT syndromeLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
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