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Items: 1 to 100 of 338

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.
GRCh38:
Chr19:41608672-44315856
ARHGEF1, ATP1A3, CADM4, CD177, CD79A, CEACAM1, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CIC, CNFN, CXCL17, DEDD2, DMRTC2, ERF, ERFL, ETHE1, GRIK5, GSK3A, IRGC, IRGQ, KCNN4, LINC03078, LIPE, LIPE-AS1, LNROP, LOC100505715, LOC101930071, LOC111501767, LOC111811970, LOC112552154, LOC112552155, LOC116286188, LOC116286189, LOC125371523, LOC125371524, LOC126862912, LOC128598884, LOC129391115, LOC129391116, LOC129391117, 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, LOC284344, LYPD3, LYPD4, LYPD5, MEGF8, MIR4323, MIR6797, MIR8077, PAFAH1B3, PHLDB3, PINLYP, PLAUR, POU2F2, POU2F2-AS2, PRG1, PRR19, PSG1, PSG11, PSG11-AS1, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG8-AS1, PSG9, RABAC1, RPS19, SMG9, SRRM5, TEX101, TMEM145, XRCC1, ZNF155, ZNF221, ZNF222, ZNF222-DT, ZNF223, ZNF224, ZNF225, ZNF225-AS1, ZNF226, ZNF227, ZNF230, ZNF230-DT, ZNF233, ZNF234, ZNF235, ZNF283, ZNF284, ZNF404, ZNF428, ZNF45, ZNF45-AS1, ZNF526, ZNF574, ZNF575, ZNF576
SchizophreniaLikely pathogenic
(Mar 20, 2018)
criteria provided, single submitter
3.
GRCh37:
Chr19:43807486-44080610
GRCh38:
Chr19:43303334-43576458
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr19:43842383-44074589
GRCh38:
Chr19:43338231-43570437
See casesLikely benign
(Nov 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr19:43842383-44357315
GRCh38:
Chr19:43338231-43853163
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr19:44010910
GRCh38:
Chr19:43506758
ETHE1Ethylmalonic encephalopathyUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr19:44010947
GRCh38:
Chr19:43506795
ETHE1Ethylmalonic encephalopathyBenign
(Aug 18, 2020)
reviewed by expert panel
FDA Recognized Database
8.
GRCh37:
Chr19:44010954
GRCh38:
Chr19:43506802
ETHE1Ethylmalonic encephalopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr19:44010971
GRCh38:
Chr19:43506819
ETHE1Ethylmalonic encephalopathyUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr19:44010992-44015728
GRCh38:
Chr19:43506840-43511576
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(Aug 12, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr19:44011005
GRCh38:
Chr19:43506853
ETHE1Ethylmalonic encephalopathyLikely benign
(Jun 11, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr19:44011005
GRCh38:
Chr19:43506853
ETHE1Ethylmalonic encephalopathyLikely benign
(Nov 5, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr19:44011006
GRCh38:
Chr19:43506854
ETHE1A131V, A243V, A156V, A254VEthylmalonic encephalopathyUncertain significance
(Aug 18, 2020)
reviewed by expert panel
FDA Recognized Database
14.
GRCh37:
Chr19:44011007
GRCh38:
Chr19:43506855
ETHE1A131T, A156T, A243T, A254Tnot specifiedUncertain significance
(Oct 17, 2023)
criteria provided, single submitter
15.
GRCh37:
Chr19:44011008
GRCh38:
Chr19:43506856
ETHE1Ethylmalonic encephalopathyLikely benign
(Oct 22, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr19:44011008
GRCh38:
Chr19:43506856
ETHE1Ethylmalonic encephalopathyLikely benign
(Sep 1, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr19:44011010
GRCh38:
Chr19:43506858
ETHE1T253A, T130A, T155A, T242AEthylmalonic encephalopathyUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr19:44011020
GRCh38:
Chr19:43506868
ETHE1Ethylmalonic encephalopathyLikely benign
(Aug 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr19:44011025
GRCh38:
Chr19:43506873
ETHE1G248R, G125R, G150R, G237Rnot providedLikely pathogenic
(Jul 1, 2020)
criteria provided, single submitter
20.
GRCh37:
Chr19:44011026
GRCh38:
Chr19:43506874
ETHE1Ethylmalonic encephalopathyLikely benign
(Jul 5, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr19:44011030
GRCh38:
Chr19:43506878
ETHE1R148H, R235H, R246H, R123HInborn genetic diseasesUncertain significance
(May 24, 2023)
criteria provided, single submitter
22.
GRCh37:
Chr19:44011033
GRCh38:
Chr19:43506881
ETHE1M122R, M147R, M245R, M234REthylmalonic encephalopathyUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr19:44011035
GRCh38:
Chr19:43506883
ETHE1Ethylmalonic encephalopathyLikely benign
(Feb 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr19:44011042
GRCh38:
Chr19:43506890
ETHE1P119L, P231L, P144L, P242LEthylmalonic encephalopathyUncertain significance
(Aug 21, 2022)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr19:44011050
GRCh38:
Chr19:43506898
ETHE1F116fs, F141fs, F228fs, F239fsEthylmalonic encephalopathyLikely pathogeniccriteria provided, single submitter
26.
GRCh37:
Chr19:44011061
GRCh38:
Chr19:43506909
ETHE1Ethylmalonic encephalopathyLikely benign
(Jun 18, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr19:44011897
GRCh38:
Chr19:43507745
ETHE1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr19:44011915
GRCh38:
Chr19:43507763
ETHE1Ethylmalonic encephalopathyBenign
(May 7, 2021)
reviewed by expert panel
FDA Recognized Database
29.
GRCh37:
Chr19:44011916-44011952
GRCh38:
Chr19:43507764-43507800
ETHE1not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr19:44011942
GRCh38:
Chr19:43507790
ETHE1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr19:44012005
GRCh38:
Chr19:43507853
ETHE1not providedBenign
(Jun 23, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr19:44012008
GRCh38:
Chr19:43507856
ETHE1Ethylmalonic encephalopathyBenign
(Aug 18, 2020)
reviewed by expert panel
FDA Recognized Database
33.
GRCh37:
Chr19:44012089
GRCh38:
Chr19:43507937
ETHE1Ethylmalonic encephalopathyLikely benign
(Feb 29, 2020)
criteria provided, single submitter
34.
GRCh37:
Chr19:44012090
GRCh38:
Chr19:43507938
ETHE1Ethylmalonic encephalopathyUncertain significance
(Sep 2, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr19:44012100
GRCh38:
Chr19:43507948
ETHE1Q138H, Q225H, Q113H, Q236HEthylmalonic encephalopathyUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr19:44012105-44012106
GRCh38:
Chr19:43507953-43507954
ETHE1Q112fs, Q137fs, Q224fs, Q235fsEthylmalonic encephalopathyLikely pathogenic
(Dec 12, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr19:44012113
GRCh38:
Chr19:43507961
ETHE1P221L, P232L, P109L, P134LEthylmalonic encephalopathyUncertain significance
(May 5, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr19:44012124
GRCh38:
Chr19:43507972
ETHE1Ethylmalonic encephalopathy, not providedLikely benign
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr19:44012133
GRCh38:
Chr19:43507981
ETHE1Ethylmalonic encephalopathyLikely benign
(Apr 19, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:44012145
GRCh38:
Chr19:43507993
ETHE1Ethylmalonic encephalopathyLikely benign
(Sep 28, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr19:44012148
GRCh38:
Chr19:43507996
ETHE1Ethylmalonic encephalopathyLikely benign
(Dec 29, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr19:44012153-44012163
GRCh38:
Chr19:43508001-43508011
ETHE1Ethylmalonic encephalopathyPathogenic
(Feb 3, 2021)
criteria provided, single submitter
43.
GRCh37:
Chr19:44012160
GRCh38:
Chr19:43508008
ETHE1Ethylmalonic encephalopathyLikely benign
(May 16, 2019)
criteria provided, single submitter
44.
GRCh37:
Chr19:44012163
GRCh38:
Chr19:43508011
ETHE1Ethylmalonic encephalopathyLikely benign
(Oct 28, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr19:44012166
GRCh38:
Chr19:43508014
ETHE1Ethylmalonic encephalopathyLikely benign
(Jul 26, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr19:44012168
GRCh38:
Chr19:43508016
ETHE1Ethylmalonic encephalopathyUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr19:44012171
GRCh38:
Chr19:43508019
ETHE1P202S, P213S, P90S, P115SEthylmalonic encephalopathyUncertain significance
(Dec 22, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr19:44012175
GRCh38:
Chr19:43508023
ETHE1Ethylmalonic encephalopathyLikely benign
(Mar 9, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr19:44012184
GRCh38:
Chr19:43508032
ETHE1Ethylmalonic encephalopathyLikely benign
(Jan 28, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr19:44012186
GRCh38:
Chr19:43508034
ETHE1E110K, E197K, E208K, E85KEthylmalonic encephalopathyUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr19:44012186
GRCh38:
Chr19:43508034
ETHE1E197*, E110*, E85*, E208*Ethylmalonic encephalopathyPathogenic
(Sep 9, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr19:44012187
GRCh38:
Chr19:43508035
ETHE1Ethylmalonic encephalopathyLikely benign
(Dec 19, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr19:44012196
GRCh38:
Chr19:43508044
ETHE1Ethylmalonic encephalopathyLikely benign
(Dec 7, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr19:44012196
GRCh38:
Chr19:43508044
ETHE1Ethylmalonic encephalopathyLikely benign
(Jun 28, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:44012200
GRCh38:
Chr19:43508048
ETHE1S203F, S105F, S192F, S80FEthylmalonic encephalopathyLikely pathogenic
(Oct 29, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr19:44012203
GRCh38:
Chr19:43508051
ETHE1V104G, V191G, V202G, V79Gnot providedUncertain significance
(Jun 10, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr19:44012203-44012204
GRCh38:
Chr19:43508051-43508052
ETHE1V79fs, V202fs, V104fs, V191fsEthylmalonic encephalopathyPathogenic
(May 7, 2021)
reviewed by expert panel
FDA Recognized Database
58.
GRCh37:
Chr19:44012205-44012206
GRCh38:
Chr19:43508053-43508054
ETHE1T103fs, T190fs, T201fs, T78fsnot providedUncertain significance
(Nov 22, 2019)
criteria provided, single submitter
59.
GRCh37:
Chr19:44012211
GRCh38:
Chr19:43508059
ETHE1Ethylmalonic encephalopathyLikely benign
(Feb 9, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr19:44012213
GRCh38:
Chr19:43508061
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(May 22, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr19:44012214
GRCh38:
Chr19:43508062
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(Nov 22, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr19:44012214
GRCh38:
Chr19:43508062
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(Sep 30, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr19:44012218
GRCh38:
Chr19:43508066
ETHE1not providedUncertain significance
(May 1, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr19:44012219
GRCh38:
Chr19:43508067
ETHE1Ethylmalonic encephalopathyLikely benign
(Aug 4, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:44012220
GRCh38:
Chr19:43508068
ETHE1Ethylmalonic encephalopathyLikely benign
(May 30, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr19:44012498-44012499
GRCh38:
Chr19:43508346-43508347
ETHE1not providedBenign
(Aug 10, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr19:44012498-44012499
GRCh38:
Chr19:43508346-43508347
ETHE1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr19:44012498-44012499
GRCh38:
Chr19:43508346-43508347
ETHE1not providedBenign
(Aug 13, 2019)
criteria provided, single submitter
69.
GRCh37:
Chr19:44012498-44012499
GRCh38:
Chr19:43508346-43508347
ETHE1not providedBenign
(Aug 6, 2019)
criteria provided, single submitter
70.
GRCh37:
Chr19:44012785
GRCh38:
Chr19:43508633
ETHE1not providedLikely benign
(Jun 28, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr19:44012880
GRCh38:
Chr19:43508728
ETHE1not provided, Ethylmalonic encephalopathyBenign
(Jul 10, 2021)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr19:44012908
GRCh38:
Chr19:43508756
ETHE1Ethylmalonic encephalopathyLikely benign
(Apr 1, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr19:44012917
GRCh38:
Chr19:43508765
ETHE1Ethylmalonic encephalopathyLikely benign
(Jul 20, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr19:44012920
GRCh38:
Chr19:43508768
ETHE1Ethylmalonic encephalopathyLikely benign
(Sep 29, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr19:44012925
GRCh38:
Chr19:43508773
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(Jul 18, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:44012925
GRCh38:
Chr19:43508773
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(Jul 14, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr19:44012929-44012930
GRCh38:
Chr19:43508777-43508778
ETHE1H100fs, H75fs, H187fs, H198fsEthylmalonic encephalopathyLikely pathogenic
(Sep 26, 2019)
no assertion criteria provided
78.
GRCh37:
Chr19:44012934
GRCh38:
Chr19:43508782
ETHE1Ethylmalonic encephalopathyLikely benign
(Mar 20, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr19:44012935
GRCh38:
Chr19:43508783
ETHE1D73V, D185V, D196V, D98VEthylmalonic encephalopathyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr19:44012936
GRCh38:
Chr19:43508784
ETHE1D196N, D98N, D185N, D73NEthylmalonic encephalopathy, not providedPathogenic/Likely pathogenic
(May 13, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr19:44012937
GRCh38:
Chr19:43508785
ETHE1not provided, Ethylmalonic encephalopathyLikely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr19:44012946
GRCh38:
Chr19:43508794
ETHE1Y181*, Y192*, Y69*, Y94*not providedPathogenic
(Dec 16, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr19:44012949
GRCh38:
Chr19:43508797
ETHE1Ethylmalonic encephalopathyBenign
(Aug 18, 2020)
reviewed by expert panel
FDA Recognized Database
84.
GRCh37:
Chr19:44012964
GRCh38:
Chr19:43508812
ETHE1Ethylmalonic encephalopathyLikely benign
(Sep 22, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr19:44012968
GRCh38:
Chr19:43508816
ETHE1L185R, L62R, L87R, L174REthylmalonic encephalopathyPathogenic
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr19:44012970
GRCh38:
Chr19:43508818
ETHE1Ethylmalonic encephalopathyLikely benign
(Jan 26, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:44012971
GRCh38:
Chr19:43508819
ETHE1T86K, T173K, T184K, T61KEthylmalonic encephalopathyUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr19:44012973
GRCh38:
Chr19:43508821
ETHE1Ethylmalonic encephalopathyLikely benign
(Apr 22, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr19:44012978
GRCh38:
Chr19:43508826
ETHE1I84V, I182V, I59V, I171VEthylmalonic encephalopathyUncertain significance
(Jun 4, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr19:44012979
GRCh38:
Chr19:43508827
ETHE1Ethylmalonic encephalopathyLikely benign
(Nov 1, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr19:44012982
GRCh38:
Chr19:43508830
ETHE1Ethylmalonic encephalopathyLikely benign
(Jul 25, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr19:44012985
GRCh38:
Chr19:43508833
ETHE1Ethylmalonic encephalopathyLikely benign
(Dec 24, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr19:44012987
GRCh38:
Chr19:43508835
ETHE1H168Y, H56Y, H179Y, H81YEthylmalonic encephalopathyConflicting interpretations of pathogenicity
(Sep 26, 2022)
criteria provided, conflicting interpretations
94.
GRCh37:
Chr19:44012991
GRCh38:
Chr19:43508839
ETHE1not providedLikely benign
(Mar 1, 2023)
criteria provided, single submitter
95.
GRCh37:
Chr19:44012992
GRCh38:
Chr19:43508840
ETHE1S166L, S177L, S54L, S79LEthylmalonic encephalopathyUncertain significance
(Feb 23, 2023)
criteria provided, single submitter
96.
GRCh37:
Chr19:44012994
GRCh38:
Chr19:43508842
ETHE1Ethylmalonic encephalopathyLikely benign
(May 21, 2020)
criteria provided, single submitter
97.
GRCh37:
Chr19:44013009
GRCh38:
Chr19:43508857
ETHE1Ethylmalonic encephalopathyLikely benign
(Sep 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr19:44013018
GRCh38:
Chr19:43508866
ETHE1Ethylmalonic encephalopathyLikely pathogenic
(Sep 5, 2021)
criteria provided, single submitter
99.
GRCh37:
Chr19:44013020
GRCh38:
Chr19:43508868
ETHE1Ethylmalonic encephalopathyLikely benign
(Oct 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr19:44013022
GRCh38:
Chr19:43508870
ETHE1Ethylmalonic encephalopathyLikely benign
(Jun 13, 2022)
criteria provided, single submitter
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