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 146

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr19:11338618-45129651
GRCh38:
Chr19:11227942-44626354
LOC130064390, LOC130064391, LOC130064392, LOC130064393, LOC130064394, LOC130064395, LOC130064396, LOC130064397, LOC130064398, LOC130064399, LOC130064400, LOC130064401, LOC130064402, LOC130064403, LOC130064404, LOC130064405, LOC130064406, LOC130064407, LOC130064408, LOC130064409, LOC130064410, LOC130064411, LOC130064412, LOC130064413, LOC130064414, LOC130064415, LOC130064416, LOC130064417, LOC130064418, LOC130064419, LOC130064420, LOC130064421, LOC130064422, LOC130064423, LOC130064424, LOC130064425, LOC130064426, LOC130064427, LOC130064428, LOC130064429, LOC130064430, LOC130064431, LOC130064432, LOC130064433, LOC130064434, LOC130064435, LOC130064436, LOC130064437, LOC130064438, LOC130064439, LOC130064440, LOC130064441, LOC130064442, LOC130064443, LOC130064444, LOC130064445, LOC130064446, LOC130064447, LOC130064448, LOC130064449, LOC130064450, LOC130064451, LOC130064452, LOC130064453, LOC130064454, LOC130064455, LOC130064456, LOC130064457, LOC130064458, LOC130064459, LOC130064460, LOC130064461, LOC130064462, LOC130064463, LOC130064464, LOC130064465, LOC130064466, LOC130064467, LOC130064468, LOC130064469, LOC130064470, LOC130064471, LOC130064472, LOC130064473, LOC130064474, LOC130064475, LOC130064476, LOC130064477, LOC130064478, LOC130064479, LOC130064480, LOC130064481, LOC130064482, LOC130064483, LOC130064484, LOC130064485, LOC130064486, LOC130064487, LOC130064488, LOC130064489, LOC130064490, LOC130064491, LOC130064492, LOC130064493, LOC130064494, LOC130064495, LOC130064496, LOC130064497, LOC130064498, LOC130064499, LOC130064500, LOC130064501, LOC130064502, LOC130064503, LOC130064504, LOC130064505, LOC130064506, LOC130064507, LOC130064508, LOC130064509, LOC130064510, LOC130064511, LOC130064512, LOC130064513, LOC130064514, LOC130064515, LOC130064516, LOC130064517, LOC130064518, LOC130064519, LOC130064520, LOC130064521, LOC130064522, LOC130064523, LOC130064524, LOC130064525, LOC130064526, LOC130064527, LOC130064528, LOC130064529, LOC130064530, LOC130064531, LOC130064532, LOC130064533, LOC130064534, LOC130064535, LOC130064536, LOC130064537, LOC130064538, LOC130064539, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, LOC130064574, LOC130064575, LOC130064576, LOC130064577, LOC130064578, LOC130064579, LOC130064580, LOC130064581, LOC130064582, LOC130064583, LOC130064584, LOC130064585, LOC130064586, LOC130064587, LOC130064588, LOC130064589, LOC130064590, LOC130064591, LOC130064592, LOC130064593, LOC130064594, LOC130064595, LOC130064596, LOC130064597, LOC130064598, LOC130064599, LOC130064600, LOC130064601, LOC130064602, LOC130064603, LOC130064604, LOC130064605, LOC130064606, LOC130064607, LOC130064608, LOC130064609, LOC130064610, LOC130064611, LOC130064612, LOC130064613, LOC130064614, LOC130064615, LOC130064616, LOC130064617, LOC130064618, LOC130064619, LOC130064620, LOC130064621, LOC130064622, LOC130064623, LOC130064624, LOC130064625, LOC130064626, LOC130064627, LOC130064628, LOC130064629, LOC130064630, LOC130064631, LOC130064632, LOC130064633, LOC130064634, LOC132090533, LOC132090534, LOC132090535, LOC132090536, LOC132090537, LOC132090538, LOC132090539, LOC132090540, LOC132090541, LOC132090542, LOC132090543, LOC132090544, LOC132090545, LOC132090546, LOC132090547, LOC132090548, LOC132090549, LOC132090550, LOC132090904, LOC132090905, LOC132090906, LOC132090907, LOC132090908, LOC132090909, LOC284344, LOC284412, LOC644554, LOC728485, LPAR2, LRFN1, LRFN3, LRP3, LRRC25, LSM14A, LSM4, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MAG, MAN2B1, MAP1S, MAP3K10, MAP4K1, MAP4K1-AS1, MAST1, MAST3, MAU2, MED26, MED29, MEF2B, MEGF8, MIA, MIA-RAB4B, MIR1199, MIR1270, MIR1470, MIR181C, MIR181D, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR3188, MIR3189, MIR4323, MIR4530, MIR5196, MIR5684, MIR5695, MIR639, MIR640, MIR641, MIR6515, MIR6719, MIR6794, MIR6795, MIR6796, MIR6797, MIR6887, MIR7974, MIR8077, MISP3, MPV17L2, MRI1, MRPL34, MRPS12, MVB12A, MYO9B, NACC1, NANOS3, NCAN, NCCRP1, NDUFA13, NDUFB7, NFIX, NFKBIB, NFKBID, NIBAN3, NOTCH3, NPHS1, NR2C2AP, NR2F6, NUDT19, NUDT19-DT, NUMBL, NWD1, NXNL1, OCEL1, ODAD3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OVOL3, PAF1, PAFAH1B3, PAK4, PALM3, PBX4, PCAT19, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PHLDB3, PIK3R2, PINLYP, PKN1, PLAUR, PLD3, PLEKHF1, PLEKHG2, PLPPR2, PLVAP, PMIS2, PODNL1, POLR2I, POP4, POU2F2, POU2F2-AS2, PPP1R14A, PRDX2, PRG1, PRKACA, PRKCSH, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, PSG11-AS1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG8-AS1, PSG9, PSMC4, PSMD8, PTGER1, RAB3A, RAB3D, RAB4B, RAB4B-EGLN2, RAB8A, RABAC1, RAD23A, RASAL3, RASGRP4, RBM42, REX1BD, RFX1, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RPL18A, RPS16, RPS19, RPSA2, RTBDN, SCGB2B2, RYR1, SAMD1, SAMD4B, SARS2, SBSN, SCN1B, SDHAF1, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIN3B, SIPA1L3, SIRT2, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SLC7A10, SLC7A9, SMG9, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SNORA68B, SNORD135, SNORD152, SNORD175, SNORD41, SNRPA, SPINT2, SPRED3, SPTBN4, SRRM5, SSBP4, STX10, SUGP1, SUGP2, SUNO1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYNE4, TBCB, TDRD12, TECR, TEKTL1, TEX101, TGFB1, THAP8, THSD8, TIMM50, TM6SF2, TMEM145, TMEM147, TMEM147-AS1, TMEM161A, TMEM205, TMEM221, TMEM38A, TMEM59L, TMEM91, TNPO2, TPM4, TRI-TAT1-1, LOC130063878, LOC130063879, LOC130063880, LOC130063881, LOC130063882, LOC130063883, LOC130063884, LOC130063885, LOC130063886, LOC130063887, LOC130063888, LOC130063889, LOC130063890, LOC130063891, LOC130063892, LOC130063893, LOC130063894, LOC130063895, LOC130063896, LOC130063897, LOC130063898, LOC130063899, LOC130063900, LOC130063901, LOC130063902, LOC130063903, LOC130063904, LOC130063905, LOC130063906, LOC130063907, LOC130063908, LOC130063909, LOC130063910, LOC130063911, LOC130063912, LOC130063913, LOC130063914, LOC130063915, LOC130063916, LOC130063917, LOC130063918, LOC130063919, LOC130063920, LOC130063921, LOC130063922, LOC130063923, LOC130063924, LOC130063925, LOC130063926, LOC130063927, LOC130063928, LOC130063929, LOC130063930, LOC130063931, LOC130063932, LOC130063933, LOC130063934, LOC130063935, LOC130063936, LOC130063937, LOC130063938, LOC130063939, LOC130063940, LOC130063941, LOC130063942, LOC130063943, LOC130063944, LOC130063945, LOC130063946, LOC130063947, LOC130063948, LOC130063949, LOC130063950, LOC130063951, LOC130063952, LOC130063953, LOC130063954, LOC130063955, LOC130063956, LOC130063957, LOC130063958, LOC130063959, LOC130063960, LOC130063961, LOC130063962, LOC130063963, LOC130063964, LOC130063965, LOC130063966, LOC130063967, LOC130063968, LOC130063969, LOC130063970, LOC130063971, LOC130063972, LOC130063973, LOC130063974, LOC130063975, LOC130063976, LOC130063977, LOC130063978, LOC130063979, LOC130063980, LOC130063981, LOC130063982, LOC130063983, LOC130063984, LOC130063985, LOC130063986, LOC130063987, LOC130063988, LOC130063989, LOC130063990, LOC130063991, LOC130063992, LOC130063993, LOC130063994, LOC130063995, LOC130063996, LOC130063997, LOC130063998, LOC130063999, LOC130064000, LOC130064001, LOC130064002, LOC130064003, LOC130064004, LOC130064005, LOC130064006, LOC130064007, LOC130064008, LOC130064009, LOC130064010, LOC130064011, LOC130064012, LOC130064013, LOC130064014, LOC130064015, LOC130064016, LOC130064017, LOC130064018, LOC130064019, LOC130064020, LOC130064021, LOC130064022, LOC130064023, LOC130064024, LOC130064025, LOC130064026, LOC130064027, LOC130064028, LOC130064029, LOC130064030, LOC130064031, LOC130064032, LOC130064033, LOC130064034, LOC130064035, LOC130064036, LOC130064037, LOC130064038, LOC130064039, LOC130064040, LOC130064041, LOC130064042, LOC130064043, LOC130064044, LOC130064045, LOC130064046, LOC130064047, LOC130064048, LOC130064049, LOC130064050, LOC130064051, LOC130064052, LOC130064053, LOC130064054, LOC130064055, LOC130064056, LOC130064057, LOC130064058, LOC130064059, LOC130064060, LOC130064061, LOC130064062, LOC130064063, LOC130064064, LOC130064065, LOC130064066, LOC130064067, LOC130064068, LOC130064069, LOC130064070, LOC130064071, LOC130064072, LOC130064073, LOC130064074, LOC130064075, LOC130064076, LOC130064077, LOC130064078, LOC130064079, LOC130064080, LOC130064081, LOC130064082, LOC130064083, LOC130064084, LOC130064085, LOC130064086, LOC130064087, LOC130064088, LOC130064089, LOC130064090, LOC130064091, LOC130064092, LOC130064093, LOC130064094, LOC130064095, LOC130064096, LOC130064097, LOC130064098, LOC130064099, LOC130064100, LOC130064101, LOC130064102, LOC130064103, LOC130064104, LOC130064105, LOC130064106, LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LOC130064113, LOC130064114, LOC130064115, LOC130064116, LOC130064117, LOC130064118, LOC130064119, LOC130064120, LOC130064121, LOC130064122, LOC130064123, LOC130064124, LOC130064125, LOC130064126, LOC130064127, LOC130064128, LOC130064129, LOC130064130, LOC130064131, LOC130064132, LOC130064133, LOC130064134, LOC130064135, LOC130064136, LOC130064137, LOC130064138, LOC130064139, LOC130064140, LOC130064141, LOC130064142, LOC130064143, LOC130064144, LOC130064145, LOC130064146, LOC130064147, LOC130064148, LOC130064149, LOC130064150, LOC130064151, LOC130064152, LOC130064153, LOC130064154, LOC130064155, LOC130064156, LOC130064157, LOC130064158, LOC130064159, LOC130064160, LOC130064161, LOC130064162, LOC130064163, LOC130064164, LOC130064165, LOC130064166, LOC130064167, LOC130064168, LOC130064169, LOC130064170, LOC130064171, LOC130064172, LOC130064173, LOC130064174, LOC130064175, LOC130064176, LOC130064177, LOC130064178, LOC130064179, LOC130064180, LOC130064181, LOC130064182, LOC130064183, LOC130064184, LOC130064185, LOC130064186, LOC130064187, LOC130064188, LOC130064189, LOC130064190, LOC130064191, LOC130064192, LOC130064193, LOC130064194, LOC130064195, LOC130064196, LOC130064197, LOC130064198, LOC130064199, LOC130064200, LOC130064201, LOC130064202, LOC130064203, LOC130064204, LOC130064205, LOC130064206, LOC130064207, LOC130064208, LOC130064209, LOC130064210, LOC130064211, LOC130064212, LOC130064213, LOC130064214, LOC130064215, LOC130064216, LOC130064217, LOC130064218, LOC130064219, LOC130064220, LOC130064221, LOC130064222, LOC130064223, LOC130064224, LOC130064225, LOC130064226, LOC130064227, LOC130064228, LOC130064229, LOC130064230, LOC130064231, LOC130064232, LOC130064233, LOC130064234, LOC130064235, LOC130064236, LOC130064237, LOC130064238, LOC130064239, LOC130064240, LOC130064241, LOC130064242, LOC130064243, LOC130064244, LOC130064245, LOC130064246, LOC130064247, LOC130064248, LOC130064249, LOC130064250, LOC130064251, LOC130064252, LOC130064253, LOC130064254, LOC130064255, LOC130064256, LOC130064257, LOC130064258, LOC130064259, LOC130064260, LOC130064261, LOC130064262, LOC130064263, LOC130064264, LOC130064265, LOC130064266, LOC130064267, LOC130064268, LOC130064269, LOC130064270, LOC130064271, LOC130064272, LOC130064273, LOC130064274, LOC130064275, LOC130064276, LOC130064277, LOC130064278, LOC130064279, LOC130064280, LOC130064281, LOC130064282, LOC130064283, LOC130064284, LOC130064285, LOC130064286, LOC130064287, LOC130064288, LOC130064289, LOC130064290, LOC130064291, LOC130064292, LOC130064293, LOC130064294, LOC130064295, LOC130064296, LOC130064297, LOC130064298, LOC130064299, LOC130064300, LOC130064301, LOC130064302, LOC130064303, LOC130064304, LOC130064305, LOC130064306, LOC130064307, LOC130064308, LOC130064309, LOC130064310, LOC130064311, LOC130064312, LOC130064313, LOC130064314, LOC130064315, LOC130064316, LOC130064317, LOC130064318, LOC130064319, LOC130064320, LOC130064321, LOC130064322, LOC130064323, LOC130064324, LOC130064325, LOC130064326, LOC130064327, LOC130064328, LOC130064329, LOC130064330, LOC130064331, LOC130064332, LOC130064333, LOC130064334, LOC130064335, LOC130064336, LOC130064337, LOC130064338, LOC130064339, LOC130064340, LOC130064341, LOC130064342, LOC130064343, LOC130064344, LOC130064345, LOC130064346, LOC130064347, LOC130064348, LOC130064349, LOC130064350, LOC130064351, LOC130064352, LOC130064353, LOC130064354, LOC130064355, LOC130064356, LOC130064357, LOC130064358, LOC130064359, LOC130064360, LOC130064361, LOC130064362, LOC130064363, LOC130064364, LOC130064365, LOC130064366, LOC130064367, LOC130064368, LOC130064369, LOC130064370, LOC130064371, LOC130064372, LOC130064373, LOC130064374, LOC130064375, LOC130064376, LOC130064377, LOC130064378, LOC130064379, LOC130064380, LOC130064381, LOC130064382, LOC130064383, LOC130064384, LOC130064385, LOC130064386, LOC130064387, LOC130064388, LOC130064389, LOC117125592, LOC117125593, LOC117125594, LOC117125595, LOC117125596, LOC117125597, LOC117125598, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121627871, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852977, LOC121852978, LOC121852979, LOC121852980, LOC121852981, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC121852987, LOC121852988, LOC125371478, LOC125371479, LOC125371480, LOC125371481, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC125371509, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC125371525, LOC126862857, LOC126862858, LOC126862859, LOC126862860, LOC126862861, LOC126862862, LOC126862863, LOC126862864, LOC126862865, LOC126862866, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC126862896, LOC126862897, LOC126862898, LOC126862899, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC128598884, LOC128854698, LOC129391061, LOC129391062, LOC129391063, LOC129391064, LOC129391065, LOC129391066, LOC129391067, LOC129391068, LOC129391069, LOC129391070, LOC129391071, LOC129391072, LOC129391073, LOC129391074, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, LOC129391086, LOC129391087, LOC129391088, LOC129391089, LOC129391090, LOC129391091, LOC129391092, LOC129391093, LOC129391094, LOC129391095, LOC129391096, LOC129391097, LOC129391098, LOC129391099, LOC129391100, LOC129391101, LOC129391102, LOC129391103, LOC129391104, LOC129391105, LOC129391106, LOC129391107, LOC129391108, LOC129391109, LOC129391110, LOC129391111, LOC129391112, LOC129391113, LOC129391114, LOC129391115, LOC129391116, LOC129391117, LOC129391118, LOC129391119, LOC129391120, LOC130063559, LOC130063560, LOC130063561, LOC130063562, LOC130063563, LOC130063564, LOC130063565, LOC130063566, LOC130063567, LOC130063568, LOC130063569, LOC130063570, LOC130063571, LOC130063572, LOC130063573, LOC130063574, LOC130063575, LOC130063576, LOC130063577, LOC130063578, LOC130063579, LOC130063580, LOC130063581, LOC130063582, LOC130063583, LOC130063584, LOC130063585, LOC130063586, LOC130063587, LOC130063588, LOC130063589, LOC130063590, LOC130063591, LOC130063592, LOC130063593, LOC130063594, LOC130063595, LOC130063596, LOC130063597, LOC130063598, LOC130063599, LOC130063600, LOC130063601, LOC130063602, LOC130063603, LOC130063604, LOC130063605, LOC130063606, LOC130063607, LOC130063608, LOC130063609, LOC130063610, LOC130063611, LOC130063612, LOC130063613, LOC130063614, LOC130063615, LOC130063616, LOC130063617, LOC130063618, LOC130063619, LOC130063620, LOC130063621, LOC130063622, LOC130063623, LOC130063624, LOC130063625, LOC130063626, LOC130063627, LOC130063628, LOC130063629, LOC130063630, LOC130063631, LOC130063632, LOC130063633, LOC130063634, LOC130063635, LOC130063636, LOC130063637, LOC130063638, LOC130063639, LOC130063640, LOC130063641, LOC130063642, LOC130063643, LOC130063644, LOC130063645, LOC130063646, LOC130063647, LOC130063648, LOC130063649, LOC130063650, LOC130063651, LOC130063652, LOC130063653, LOC130063654, LOC130063655, LOC130063656, LOC130063657, LOC130063658, LOC130063659, LOC130063660, LOC130063661, LOC130063662, LOC130063663, LOC130063664, LOC130063665, LOC130063666, LOC130063667, LOC130063668, LOC130063669, LOC130063670, LOC130063671, LOC130063672, LOC130063673, LOC130063674, LOC130063675, LOC130063676, LOC130063677, LOC130063678, LOC130063679, LOC130063680, LOC130063681, LOC130063682, LOC130063683, LOC130063684, LOC130063685, LOC130063686, LOC130063687, LOC130063688, LOC130063689, LOC130063690, LOC130063691, LOC130063692, LOC130063693, LOC130063694, LOC130063695, LOC130063696, LOC130063697, LOC130063698, LOC130063699, LOC130063700, LOC130063701, LOC130063702, LOC130063703, LOC130063704, LOC130063705, LOC130063706, LOC130063707, LOC130063708, LOC130063709, LOC130063710, LOC130063711, LOC130063712, LOC130063713, LOC130063714, LOC130063715, LOC130063716, LOC130063717, LOC130063718, LOC130063719, LOC130063720, LOC130063721, LOC130063722, LOC130063723, LOC130063724, LOC130063725, LOC130063726, LOC130063727, LOC130063728, LOC130063729, LOC130063730, LOC130063731, LOC130063732, LOC130063733, LOC130063734, LOC130063735, LOC130063736, LOC130063737, LOC130063738, LOC130063739, LOC130063740, LOC130063741, LOC130063742, LOC130063743, LOC130063744, LOC130063745, LOC130063746, LOC130063747, LOC130063748, LOC130063749, LOC130063750, LOC130063751, LOC130063752, LOC130063753, LOC130063754, LOC130063755, LOC130063756, LOC130063757, LOC130063758, LOC130063759, LOC130063760, LOC130063761, LOC130063762, LOC130063763, LOC130063764, LOC130063765, LOC130063766, LOC130063767, LOC130063768, LOC130063769, LOC130063770, LOC130063771, LOC130063772, LOC130063773, LOC130063774, LOC130063775, LOC130063776, LOC130063777, LOC130063778, LOC130063779, LOC130063780, LOC130063781, LOC130063782, LOC130063783, LOC130063784, LOC130063785, LOC130063786, LOC130063787, LOC130063788, LOC130063789, LOC130063790, LOC130063791, LOC130063792, LOC130063793, LOC130063794, LOC130063795, LOC130063796, LOC130063797, LOC130063798, LOC130063799, LOC130063800, LOC130063801, LOC130063802, LOC130063803, LOC130063804, LOC130063805, LOC130063806, LOC130063807, LOC130063808, LOC130063809, LOC130063810, LOC130063811, LOC130063812, LOC130063813, LOC130063814, LOC130063815, LOC130063816, LOC130063817, LOC130063818, LOC130063819, LOC130063820, LOC130063821, LOC130063822, LOC130063823, LOC130063824, LOC130063825, LOC130063826, LOC130063827, LOC130063828, LOC130063829, LOC130063830, LOC130063831, LOC130063832, LOC130063833, LOC130063834, LOC130063835, LOC130063836, LOC130063837, LOC130063838, LOC130063839, LOC130063840, LOC130063841, LOC130063842, LOC130063843, LOC130063844, LOC130063845, LOC130063846, LOC130063847, LOC130063848, LOC130063849, LOC130063850, LOC130063851, LOC130063852, LOC130063853, LOC130063854, LOC130063855, LOC130063856, LOC130063857, LOC130063858, LOC130063859, LOC130063860, LOC130063861, LOC130063862, LOC130063863, LOC130063864, LOC130063865, LOC130063866, LOC130063867, LOC130063868, LOC130063869, LOC130063870, LOC130063871, LOC130063872, LOC130063873, LOC130063874, LOC130063875, LOC130063876, LOC130063877, ABHD8, ACP5, ACP7, ACTMAP, ACTN4, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, AKT2, ALKBH6, ANGPTL8, ANKLE1, ANKRD27, ANO8, AP1M1, APLP1, ARHGAP33, ARHGEF1, ARMC6, ARRDC2, ASF1B, ATP13A1, ATP1A3, ATP4A, AXL, B3GNT3, B3GNT8, B9D2, BABAM1, BCKDHA, BEST2, BISPR, BLVRB, BORCS8, BORCS8-MEF2B, BRD4, BRME1, BST2, C19orf12, C19orf33, C19orf44, C19orf47, C19orf53, C19orf67, CACNA1A, CADM4, CALR, CALR3, CAPN12, CAPNS1, CASP14, CATSPERG, CC2D1A, CCDC124, CCDC159, CCDC194, CCDC97, CCER2, CCNE1, CCNP, CD177, CD22, CD79A, CEACAM1, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHERP, CHST8, CIB3, CIC, CILP2, CIST1, CLC, CLEC17A, CLIP3, CNFN, CNN1, COLGALT1, COMP, COPE, COQ8B, COX6B1, COX7A1, CPAMD8, CRLF1, CRTC1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DAND5, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DHPS, DLL3, DMAC2, DMKN, DMRTC2, DNAJB1, DNASE2, DOCK6, DPF1, DPY19L3, DPY19L3-DT, DYRK1B, ECH1, ECSIT, EGLN2, EID2, EID2B, EIF3K, ELAVL3, ELL, ELOF1, EPHX3, EPOR, EPS15L1, ERF, ERFL, ERICH4, ERVK-19, ERVS71-1, ETHE1, ETV2, EXOSC5, F2RL3, FAAP24, FAM187B, FAM32A, FAM98C, FARSA, FARSA-AS1, FBL, FBXO17, FBXO27, FBXW9, FCGBP, FCHO1, FFAR1, FFAR2, FFAR3, FKBP8, FXYD1, FXYD3, FXYD5, FXYD7, GADD45GIP1, GAPDHS, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GET3, GGN, GIPC1, GMFG, GMIP, GNG14, GPATCH1, GPI, GPR42, GRAMD1A, GRIK5, GSK3A, GTPBP3, HAMP, HAPLN4, HAUS5, HAUS5-DT, HAUS8, HCST, HIPK4, HNRNPL, HNRNPUL1, HOMER3, HOMER3-AS1, HOOK2, HPN, HPN-AS1, HSH2D, HSPB6, HSPC102, IER2, IFI30, IFNL1, IFNL2, IFNL3, IFNL4, IGFLR1, IGSF23, IL12RB1, IL27RA, ILVBL, ILVBL-AS1, INSL3, IQCN, IRGC, IRGQ, ISYNA1, ITPKC, JAK3, JUNB, JUND, KCNK6, KCNN1, KCNN4, KCTD15, KIRREL2, KLF1, KLF2, KLF2-DT, KLHL26, KMT2B, KRTDAP, KXD1, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LIN37, LINC00661, LINC00662, LINC00663, LINC00664, LINC00665, LINC00904, LINC00905, LINC00906, LINC01224, LINC01233, LINC01480, LINC01529, LINC01531, LINC01532, LINC01533, LINC01535, LINC01766, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02841, LINC02926, LINC02965, LINC02987, LINC03049, LINC03078, LINC03085, LINC03103, LIPE, LIPE-AS1, LNROP, LOC100134317, LOC100505715, LOC100505851, LOC101927522, LOC101927572, LOC101929124, LOC101930071, LOC102724908, LOC102724958, LOC102725254, LOC105372281, LOC105372321, LOC105372383, LOC105372394, LOC105376917, LOC106783503, LOC108663985, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC110121458, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111365151, LOC111365153, LOC111365163, LOC111413028, LOC111501767, LOC111811970, LOC112543445, LOC112543446, LOC112543448, LOC112543452, LOC112543454, LOC112543455, LOC112543458, LOC112543459, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC112543485, LOC112543486, LOC112543487, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC112552154, LOC112552155, LOC112552156, LOC113939968, LOC113939969, LOC113939973, LOC116276503, LOC116276504, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC116276513, LOC116276514, LOC116276515, LOC116286188, LOC116286189, LOC117038783, LOC117038785, LOC117038786, LOC117038787, LOC117038788, LOC117038789, LOC117038790, LOC117038791, LOC117038792, LOC117038793, LOC117038794, LOC117038795, LOC117125585, LOC117125586, LOC117125587, LOC117125588, LOC117125589, LOC117125590, LOC117125591, TRIR, TRMT1, TRT-AGT1-3, TSHZ3, TSPAN16, TSSK6, TTC9B, TYROBP, U2AF1L4, UBA2, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, UPK1A, UPK1A-AS1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USF2, USHBP1, VSTM2B, VSTM2B-DT, WDR62, WDR83, WDR83OS, WDR87, WDR87BP, WDR88, WIZ, WTIP, XRCC1, YIF1B, YJEFN3, YJU2B, ZBTB32, ZFP14, ZFP30, ZFP36, ZFP82, ZNF100, ZNF101, ZNF112, ZNF136, ZNF14, ZNF146, ZNF155, ZNF180, ZNF181, ZNF20, ZNF208, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF225-AS1, ZNF226, ZNF227, ZNF229, ZNF230, ZNF230-DT, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF257, ZNF260, ZNF283, ZNF284, ZNF285, ZNF30, ZNF30-AS1, ZNF302, ZNF333, ZNF345, ZNF382, ZNF383, ZNF404, ZNF420, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF433, ZNF433-AS1, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF45, ZNF45-AS1, ZNF461, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF506, ZNF507, ZNF526, ZNF527, ZNF529, ZNF529-AS1, ZNF536, ZNF540, ZNF546, ZNF563, ZNF564, ZNF565, ZNF566, ZNF566-AS1, ZNF567, ZNF567-DT, ZNF568, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF575, ZNF576, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF625, ZNF625-ZNF20, ZNF626, ZNF627, ZNF653, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF69, ZNF700, ZNF708, ZNF709, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF763, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF790-AS1, ZNF791, ZNF792, ZNF793, ZNF793-AS1, ZNF799, ZNF823, ZNF829, ZNF844, ZNF85, ZNF850, ZNF875, ZNF878, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZSWIM4
See casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
2.
GRCh37:
Chr19:37810279-43242840
GRCh38:
Chr19:37319377-42738688
ACP7, ACTMAP, ACTN4, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf33, C19orf47, CAPN12, CATSPERG, CCDC97, CCER2, CCNP, CD79A, CEACAM1, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CIC, CLC, CNFN, COQ8B, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DPF1, DYRK1B, ECH1, EGLN2, EID2, EID2B, EIF3K, ERF, ERFL, ERICH4, EXOSC5, FAM98C, FBL, FBXO17, FBXO27, FCGBP, GGN, GMFG, GRIK5, GSK3A, HIPK4, HNRNPL, HNRNPUL1, IFNL1, IFNL2, IFNL3, IFNL4, ITPKC, KCNK6, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LINC01480, LIPE, LIPE-AS1, LNROP, LOC101930071, LOC105372394, LOC110121465, LOC110599575, LOC110599577, LOC110673974, LOC111501767, LOC111811970, LOC112543488, LOC112543489, LOC112552149, LOC112552150, LOC112552151, LOC112552152, LOC112552153, LOC113939973, LOC116276514, LOC116276515, LOC121627872, LOC121627873, LOC121627874, LOC121627875, LOC121627876, LOC121627877, LOC121852987, LOC121852988, LOC125371510, LOC125371511, LOC125371513, LOC125371514, LOC125371515, LOC125371516, LOC125371517, LOC125371518, LOC125371519, LOC125371520, LOC125371521, LOC125371522, LOC125371523, LOC125371524, LOC126862900, LOC126862901, LOC126862902, LOC126862903, LOC126862904, LOC126862905, LOC126862906, LOC126862907, LOC126862908, LOC126862909, LOC126862910, LOC126862911, LOC126862912, LOC129391103, LOC129391104, LOC129391105, LOC129391106, LOC129391107, LOC129391108, LOC129391109, LOC129391110, LOC129391111, LOC129391112, LOC129391113, LOC129391114, LOC129391115, LOC129391116, LOC129391117, LOC130064313, LOC130064314, LOC130064315, LOC130064316, LOC130064317, LOC130064318, LOC130064319, LOC130064320, LOC130064321, LOC130064322, LOC130064323, LOC130064324, LOC130064325, LOC130064326, LOC130064327, LOC130064328, LOC130064329, LOC130064330, LOC130064331, LOC130064332, LOC130064333, LOC130064334, LOC130064335, LOC130064336, LOC130064337, LOC130064338, LOC130064339, LOC130064340, LOC130064341, LOC130064342, LOC130064343, LOC130064344, LOC130064345, LOC130064346, LOC130064347, LOC130064348, LOC130064349, LOC130064350, LOC130064351, LOC130064352, LOC130064353, LOC130064354, LOC130064355, LOC130064356, LOC130064357, LOC130064358, LOC130064359, LOC130064360, LOC130064361, LOC130064362, LOC130064363, LOC130064364, LOC130064365, LOC130064366, LOC130064367, LOC130064368, LOC130064369, LOC130064370, LOC130064371, LOC130064372, LOC130064373, LOC130064374, LOC130064375, LOC130064376, LOC130064377, LOC130064378, LOC130064379, LOC130064380, LOC130064381, LOC130064382, LOC130064383, LOC130064384, LOC130064385, LOC130064386, LOC130064387, LOC130064388, LOC130064389, LOC130064390, LOC130064391, LOC130064392, LOC130064393, LOC130064394, LOC130064395, LOC130064396, LOC130064397, LOC130064398, LOC130064399, LOC130064400, LOC130064401, LOC130064402, LOC130064403, LOC130064404, LOC130064405, LOC130064406, LOC130064407, LOC130064408, LOC130064409, LOC130064410, LOC130064411, LOC130064412, LOC130064413, LOC130064414, LOC130064415, LOC130064416, LOC130064417, LOC130064418, LOC130064419, LOC130064420, LOC130064421, LOC130064422, LOC130064423, LOC130064424, LOC130064425, LOC130064426, LOC130064427, LOC130064428, LOC130064429, LOC130064430, LOC130064431, LOC130064432, LOC130064433, LOC130064434, LOC130064435, LOC130064436, LOC130064437, LOC130064438, LOC130064439, LOC130064440, LOC130064441, LOC130064442, LOC130064443, LOC130064444, LOC130064445, LOC130064446, LOC130064447, LOC130064448, LOC130064449, LOC130064450, LOC130064451, LOC130064452, LOC130064453, LOC130064454, LOC130064455, LOC130064456, LOC130064457, LOC130064458, LOC130064459, LOC130064460, LOC130064461, LOC130064462, LOC130064463, LOC130064464, LOC130064465, LOC130064466, LOC130064467, LOC130064468, LOC130064469, LOC130064470, LOC130064471, LOC130064472, LOC130064473, LOC130064474, LOC130064475, LOC130064476, LOC130064477, LOC130064478, LOC130064479, LOC130064480, LOC130064481, LOC130064482, LOC130064483, LOC130064484, LOC130064485, LOC130064486, LOC130064487, LOC130064488, LOC130064489, LOC130064490, LOC130064491, LOC130064492, LOC130064493, LOC130064494, LOC130064495, LOC130064496, LOC130064497, LOC130064498, LOC130064499, LOC130064500, LOC130064501, LOC130064502, LOC130064503, LOC130064504, LOC130064505, LOC130064506, LOC130064507, LOC130064508, LOC130064509, LOC130064510, LOC130064511, LOC130064512, LOC130064513, LOC130064514, LOC130064515, LOC130064516, LOC130064517, LOC130064518, LOC130064519, LOC130064520, LOC130064521, LOC130064522, LOC130064523, LOC130064524, LOC130064525, LOC130064526, LOC130064527, LOC130064528, LOC130064529, LOC130064530, LOC130064531, LOC130064532, LOC130064533, LOC130064534, LOC130064535, LOC130064536, LOC130064537, LOC130064538, LOC130064539, LOC130064540, LOC130064541, LOC130064542, LOC130064543, LOC130064544, LOC130064545, LOC130064546, LOC130064547, LOC130064548, LOC130064549, LOC130064550, LOC130064551, LOC130064552, LOC130064553, LOC130064554, LOC130064555, LOC130064556, LOC130064557, LOC130064558, LOC130064559, LOC130064560, LOC130064561, LOC130064562, LOC130064563, LOC130064564, LOC130064565, LOC130064566, LOC130064567, LOC130064568, LOC130064569, LOC130064570, LOC130064571, LOC130064572, LOC130064573, LOC130064574, LOC130064575, LOC130064576, LOC130064577, LOC130064578, LOC130064579, LOC130064580, LOC130064581, LOC130064582, LOC130064583, LOC130064584, LOC130064585, LOC130064586, LOC130064587, LOC130064588, LOC130064589, LOC644554, LRFN1, LTBP4, LYPD4, MAP3K10, MAP4K1, MAP4K1-AS1, MED29, MEGF8, MIA, MIA-RAB4B, MIR4323, MIR4530, MIR641, MIR6719, MIR6796, MIR6797, MIR8077, MRPS12, NCCRP1, NFKBIB, NUMBL, PAF1, PAFAH1B3, PAK4, PCAT19, PLD3, PLEKHG2, POU2F2, POU2F2-AS2, PPP1R14A, PRR19, PRX, PSG3, PSMC4, PSMD8, RAB4B, RAB4B-EGLN2, RABAC1, RASGRP4, RINL, RPS16, RPS19, RYR1, SAMD4B, SARS2, SELENOV, SERTAD1, SERTAD3, SERTAD3-AS1, SHKBP1, SIPA1L3, SIRT2, SNORD152, SNORD175, SNRPA, SPINT2, SPRED3, SPTBN4, SUPT5H, SYCN, TGFB1, TIMM50, TMEM145, TMEM91, TRI-TAT1-1, TTC9B, WDR87, WDR87BP, YIF1B, ZFP30, ZFP36, ZNF526, ZNF527, ZNF540, ZNF546, ZNF569, ZNF570, ZNF571, ZNF571-AS1, ZNF573, ZNF574, ZNF607, ZNF780A, ZNF780B, ZNF781, ZNF793, ZNF793-AS1, ZNF875
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr19:40739513
GRCh38:
Chr19:40233606
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
4.
GRCh37:
Chr19:40739721
GRCh38:
Chr19:40233814
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr19:40739770
GRCh38:
Chr19:40233863
AKT2not specifiedBenign
(Mar 30, 2021)
criteria provided, single submitter
6.
GRCh37:
Chr19:40739812
GRCh38:
Chr19:40233905
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Feb 22, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr19:40739826
GRCh38:
Chr19:40233919
AKT2R405W, R424W, R467WHypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitus, not specified
Conflicting interpretations of pathogenicity
(Jul 7, 2022)
criteria provided, conflicting interpretations
8.
GRCh37:
Chr19:40739865
GRCh38:
Chr19:40233958
AKT2not specified, Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr19:40740932
GRCh38:
Chr19:40235025
AKT2Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitus, not provided
Benign/Likely benign
(May 1, 2023)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:40740955
GRCh38:
Chr19:40235048
AKT2R412C, R393C, R455CHypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitusUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr19:40740986
GRCh38:
Chr19:40235079
AKT2not providedLikely benign
(Mar 29, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr19:40741022
GRCh38:
Chr19:40235115
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyBenign
(Jul 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr19:40741032
GRCh38:
Chr19:40235125
AKT2Q367R, Q386R, Q429RType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr19:40741058
GRCh38:
Chr19:40235151
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Mar 25, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr19:40741187
GRCh38:
Chr19:40235280
AKT2D416N, D354N, D373NInborn genetic diseasesUncertain significance
(Sep 13, 2017)
criteria provided, single submitter
16.
GRCh37:
Chr19:40741206
GRCh38:
Chr19:40235299
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Oct 4, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:40741247
GRCh38:
Chr19:40235340
AKT2G353R, G334R, G396RInborn genetic diseasesUncertain significance
(Nov 23, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr19:40741267
GRCh38:
Chr19:40235360
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Dec 3, 2021)
criteria provided, single submitter
19.
GRCh37:
Chr19:40741269
GRCh38:
Chr19:40235362
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr19:40741274
GRCh38:
Chr19:40235367
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyBenign
(Nov 3, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr19:40741694
GRCh38:
Chr19:40235787
AKT2not providedBenign
(May 10, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr19:40741855
GRCh38:
Chr19:40235948
AKT2L373V, L311V, L330VInborn genetic diseasesUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:40741857
GRCh38:
Chr19:40235950
AKT2T329M, T310M, T372Mnot provided, Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Uncertain significance
(Aug 14, 2021)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr19:40741860
GRCh38:
Chr19:40235953
AKT2R371H, R328H, R309HHypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitusUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:40741862
GRCh38:
Chr19:40235955
AKT2Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitusLikely benign
(Mar 12, 2020)
criteria provided, single submitter
26.
GRCh37:
Chr19:40741862
GRCh38:
Chr19:40235955
AKT2not provided, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitus
Benign/Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr19:40741882
GRCh38:
Chr19:40235975
AKT2M302V, M321V, M364VType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Jun 21, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr19:40741903
GRCh38:
Chr19:40235996
AKT2R357C, R314C, R295CType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr19:40741904
GRCh38:
Chr19:40235997
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(May 17, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr19:40741907
GRCh38:
Chr19:40236000
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Nov 27, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr19:40741920
GRCh38:
Chr19:40236013
AKT2Y289C, Y308C, Y351Cnot providedUncertain significance
(May 19, 2020)
criteria provided, single submitter
32.
GRCh37:
Chr19:40741930
GRCh38:
Chr19:40236023
AKT2not providedLikely benign
(Oct 9, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr19:40741932
GRCh38:
Chr19:40236025
AKT2R285H, R304H, R347HHypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitusUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:40741933
GRCh38:
Chr19:40236026
AKT2R285C, R304C, R347Cnot provided, Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Uncertain significance
(Jan 6, 2023)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr19:40741936
GRCh38:
Chr19:40236029
AKT2G284S, G303S, G346SType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr19:40741940
GRCh38:
Chr19:40236033
AKT2M344I, M282I, M301IType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Apr 18, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr19:40741949
GRCh38:
Chr19:40236042
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Mar 7, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr19:40741988
GRCh38:
Chr19:40236081
AKT2not specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr19:40742012-40742013
GRCh38:
Chr19:40236105-40236106
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Jun 8, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:40742024
GRCh38:
Chr19:40236117
AKT2Type II diabetes mellitusLikely benign
(Aug 22, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr19:40742105
GRCh38:
Chr19:40236198
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr19:40742144
GRCh38:
Chr19:40236237
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Jan 18, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr19:40742161
GRCh38:
Chr19:40236254
AKT2Inborn genetic diseases, Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Uncertain significance
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr19:40742161
GRCh38:
Chr19:40236254
AKT2not provided, not specified, Hypoinsulinemic hypoglycemia and body hemihypertrophy,
Type II diabetes mellitus
Likely benign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr19:40742164
GRCh38:
Chr19:40236257
AKT2not providedUncertain significance
(Feb 19, 2013)
criteria provided, single submitter
46.
GRCh37:
Chr19:40742179
GRCh38:
Chr19:40236272
AKT2not provided, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitus,
not specified
Benign/Likely benign
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr19:40742220
GRCh38:
Chr19:40236313
AKT2S302G, S240GNeoplasm of the large intestineLikely pathogenic
(Jul 14, 2015)
no assertion criteria provided
48.
GRCh37:
Chr19:40742263
GRCh38:
Chr19:40236356
AKT2not providedUncertain significance
(Feb 19, 2013)
criteria provided, single submitter
49.
GRCh37:
Chr19:40742299
GRCh38:
Chr19:40236392
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Apr 27, 2021)
criteria provided, single submitter
50.
GRCh37:
Chr19:40742320
GRCh38:
Chr19:40236413
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr19:40743694
GRCh38:
Chr19:40237787
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr19:40743858
GRCh38:
Chr19:40237951
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyBenign
(Oct 13, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:40743866
GRCh38:
Chr19:40237959
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Aug 20, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr19:40743872
GRCh38:
Chr19:40237965
AKT2not providedUncertain significance
(Aug 27, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr19:40743885
GRCh38:
Chr19:40237978
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Apr 16, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr19:40743886
GRCh38:
Chr19:40237979
AKT2R274H, R212Hnot providedLikely pathogenic
(May 25, 2023)
criteria provided, single submitter
57.
GRCh37:
Chr19:40743950
GRCh38:
Chr19:40238043
AKT2R191W, R253WType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr19:40743963
GRCh38:
Chr19:40238056
AKT2not specifiedUncertain significance
(Nov 27, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr19:40743996
GRCh38:
Chr19:40238089
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Mar 29, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr19:40744001
GRCh38:
Chr19:40238094
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:40744001
GRCh38:
Chr19:40238094
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Jul 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr19:40744007
GRCh38:
Chr19:40238100
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Jul 14, 2020)
criteria provided, single submitter
63.
GRCh37:
Chr19:40744009
GRCh38:
Chr19:40238102
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Jul 6, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr19:40744160-40744161
GRCh38:
Chr19:40238253-40238254
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr19:40744548
GRCh38:
Chr19:40238641
AKT2not providedBenign
(Jun 18, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr19:40744697
GRCh38:
Chr19:40238790
AKT2not providedBenign
(Nov 10, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr19:40744792-40744793
GRCh38:
Chr19:40238885-40238886
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Aug 17, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr19:40744803
GRCh38:
Chr19:40238896
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr19:40744805
GRCh38:
Chr19:40238898
AKT2not specifiedUncertain significance
(Feb 19, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr19:40744821
GRCh38:
Chr19:40238914
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Dec 31, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr19:40744854
GRCh38:
Chr19:40238947
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyBenign
(May 17, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr19:40744863
GRCh38:
Chr19:40238956
AKT2not providedLikely benign
(Jul 31, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr19:40744879
GRCh38:
Chr19:40238972
AKT2A214V, A152VAKT2-related condition, Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy
Uncertain significance
(Mar 24, 2023)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr19:40745941
GRCh38:
Chr19:40240034
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Jan 26, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr19:40745968
GRCh38:
Chr19:40240061
AKT2R146K, R208KInborn genetic diseases, Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitus
Conflicting interpretations of pathogenicity
(Aug 5, 2022)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr19:40746016
GRCh38:
Chr19:40240109
AKT2D130G, D192GInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
77.
GRCh37:
Chr19:40746032
GRCh38:
Chr19:40240125
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Apr 12, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr19:40747533
GRCh38:
Chr19:40241626
AKT2not providedBenign
(Jun 19, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr19:40747717
GRCh38:
Chr19:40241810
AKT2not providedBenign
(May 10, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr19:40747820
GRCh38:
Chr19:40241913
AKT2not providedBenign
(May 11, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr19:40747836
GRCh38:
Chr19:40241929
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophy, not specified
Benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr19:40747837
GRCh38:
Chr19:40241930
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Feb 21, 2020)
criteria provided, single submitter
83.
GRCh37:
Chr19:40747846
GRCh38:
Chr19:40241939
AKT2K129R, K191RType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(May 17, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr19:40747868
GRCh38:
Chr19:40241961
AKT2R184W, R122WType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr19:40747887
GRCh38:
Chr19:40241980
AKT2not providedUncertain significance
(Oct 1, 2023)
criteria provided, single submitter
86.
GRCh37:
Chr19:40747892
GRCh38:
Chr19:40241985
AKT2R114C, R176CType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Sep 12, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:40747893
GRCh38:
Chr19:40241986
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(Sep 2, 2021)
criteria provided, single submitter
88.
GRCh37:
Chr19:40747902
GRCh38:
Chr19:40241995
AKT2not providedLikely benign
(May 24, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr19:40747910
GRCh38:
Chr19:40242003
AKT2R170W, R108WInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr19:40747984
GRCh38:
Chr19:40242077
AKT2Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitus, not specified
Likely benign
(Sep 17, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr19:40747988
GRCh38:
Chr19:40242081
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyLikely benign
(May 18, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr19:40747996
GRCh38:
Chr19:40242089
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyBenign
(Oct 27, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr19:40748444
GRCh38:
Chr19:40242537
AKT2Type II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr19:40748452
GRCh38:
Chr19:40242545
AKT2R144W, R82WType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr19:40748455
GRCh38:
Chr19:40242548
AKT2A143T, A81TType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Sep 9, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr19:40748466
GRCh38:
Chr19:40242559
AKT2A139V, A77VType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr19:40748481
GRCh38:
Chr19:40242574
AKT2E134A, E72AInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr19:40748483
GRCh38:
Chr19:40242576
AKT2Hypoinsulinemic hypoglycemia and body hemihypertrophy, Type II diabetes mellitusLikely benign
(Dec 24, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr19:40748486
GRCh38:
Chr19:40242579
AKT2not providedLikely benign
(Jun 22, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr19:40748487
GRCh38:
Chr19:40242580
AKT2T70M, T132MType II diabetes mellitus, Hypoinsulinemic hypoglycemia and body hemihypertrophyUncertain significance
(Jan 27, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination