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Items: 1 to 100 of 6169

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:
Chr19:38923902
GRCh38:
Chr19:38433262
RYR1not providedUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr19:38924039
GRCh38:
Chr19:38433399
RYR1not providedLikely benign
(Jun 14, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr19:38924068
GRCh38:
Chr19:38433428
RYR1not providedLikely benign
(Feb 11, 2019)
criteria provided, single submitter
6.
GRCh37:
Chr19:38924156
GRCh38:
Chr19:38433516
RYR1not providedLikely benign
(Oct 2, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr19:38924172
GRCh38:
Chr19:38433532
RYR1not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr19:38924352
GRCh38:
Chr19:38433712
LOC130064350, RYR1Malignant hyperthermia, susceptibility to, 1, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr19:38924362
GRCh38:
Chr19:38433722
RYR1not provided, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy
Benign
(Jun 28, 2018)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr19:38924368
GRCh38:
Chr19:38433728
RYR1Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1, Central core myopathy,
Neuromuscular disease, congenital, with uniform type 1 fiber
Benign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr19:38924382-38924405
GRCh38:
Chr19:38433742-38433765
RYR1not providedLikely benign
(Feb 11, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr19:38924386-38924387
GRCh38:
Chr19:38433746-38433747
RYR1Malignant hyperthermia of anesthesia, Multiminicore myopathy, Central core myopathy,
Neuromuscular disease, congenital, with uniform type 1 fiber
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr19:38924396
GRCh38:
Chr19:38433756
RYR1Neuromuscular disease, congenital, with uniform type 1 fiber, Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1,
Central core myopathy, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1
Uncertain significance
(Dec 14, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr19:38924397-38924398
GRCh38:
Chr19:38433757-38433758
RYR1Malignant hyperthermia of anesthesia, Multiminicore myopathy, Central core myopathy,
Neuromuscular disease, congenital, with uniform type 1 fiber
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr19:38924401
GRCh38:
Chr19:38433761
RYR1Malignant hyperthermia, susceptibility to, 1, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr19:38924401
GRCh38:
Chr19:38433761
RYR1Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia, susceptibility to, 1, Neuromuscular disease, congenital, with uniform type 1 fiber,
Central core myopathy, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia,
Congenital myopathy with fiber type disproportion, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1
Uncertain significance
(Aug 16, 2021)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr19:38924405
GRCh38:
Chr19:38433765
RYR1Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr19:38924409
GRCh38:
Chr19:38433769
RYR1Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr19:38924433
GRCh38:
Chr19:38433793
RYR1not specifiedLikely benigncriteria provided, single submitter
20.
GRCh37:
Chr19:38924439
GRCh38:
Chr19:38433799
RYR1Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegiaUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr19:38924450-38935337
GRCh38:
Chr19:38433810-38444697
RYR1RYR1-Related DisordersUncertain significance
(Nov 6, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr19:38924472
GRCh38:
Chr19:38433832
RYR1M1Inot providedUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr19:38924474
GRCh38:
Chr19:38433834
RYR1G2ANeuromuscular disease, congenital, with uniform type 1 fiber, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1
Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr19:38924490
GRCh38:
Chr19:38433850
RYR1RYR1-Related DisordersLikely benign
(Aug 22, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr19:38924490-38924491
GRCh38:
Chr19:38433850-38433851
RYR1RYR1-Related DisordersUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr19:38924493
GRCh38:
Chr19:38433853
RYR1D8Enot provided, Congenital multicore myopathy with external ophthalmoplegiaUncertain significance
(May 3, 2021)
criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr19:38924502
GRCh38:
Chr19:38433862
RYR1not providedLikely benign
(Jul 18, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr19:38924504-38924506
GRCh38:
Chr19:38433864-38433866
RYR1F12fsnot providednot providedno assertion provided
29.
GRCh37:
Chr19:38924507
GRCh38:
Chr19:38433867
RYR1L13RMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Apr 7, 2023)
reviewed by expert panel
FDA Recognized Database
30.
GRCh37:
Chr19:38924509
GRCh38:
Chr19:38433869
RYR1R14Wnot providedUncertain significance
(May 7, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr19:38924509
GRCh38:
Chr19:38433869
RYR1RYR1-Related DisordersLikely benign
(Jun 1, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr19:38924511
GRCh38:
Chr19:38433871
RYR1RYR1-Related DisordersLikely benign
(Feb 5, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr19:38924514
GRCh38:
Chr19:38433874
RYR1RYR1-Related DisordersUncertain significance
(Jul 28, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr19:38924515
GRCh38:
Chr19:38433875
RYR1RYR1-Related DisordersLikely pathogenic
(Aug 22, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr19:38924520
GRCh38:
Chr19:38433880
RYR1not providedUncertain significance
(Jan 13, 2016)
criteria provided, single submitter
36.
GRCh37:
Chr19:38924546
GRCh38:
Chr19:38433906
RYR1not specifiedBenign
(Oct 15, 2013)
criteria provided, single submitter
37.
GRCh37:
Chr19:38924635
GRCh38:
Chr19:38433995
RYR1not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr19:38924814
GRCh38:
Chr19:38434174
RYR1not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr19:38931375
GRCh38:
Chr19:38440735
RYR1RYR1-Related DisordersLikely benign
(Jun 13, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr19:38931375
GRCh38:
Chr19:38440735
RYR1RYR1-Related DisordersUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
41.
GRCh37:
Chr19:38931376
GRCh38:
Chr19:38440736
RYR1RYR1-Related DisordersLikely benign
(Jan 6, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr19:38931380
GRCh38:
Chr19:38440740
RYR1RYR1-Related Disorders, not provided, Congenital multicore myopathy with external ophthalmoplegia,
Central core myopathy, Congenital myopathy with fiber type disproportion, Malignant hyperthermia, susceptibility to, 1,
King Denborough syndrome
Likely benign
(Jul 16, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr19:38931381
GRCh38:
Chr19:38440741
RYR1RYR1-Related DisordersLikely benign
(Oct 28, 2021)
criteria provided, single submitter
44.
GRCh37:
Chr19:38931381
GRCh38:
Chr19:38440741
RYR1RYR1-Related Disorders, Central core myopathy, Malignant hyperthermia, susceptibility to, 1,
Congenital myopathy with fiber type disproportion, Congenital multicore myopathy with external ophthalmoplegia, King Denborough syndrome
Likely benign
(Jun 22, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr19:38931381
GRCh38:
Chr19:38440741
RYR1RYR1-Related Disorders, not specified, not provided
Likely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr19:38931384
GRCh38:
Chr19:38440744
RYR1RYR1-Related Disorders, RYR1-related myopathy, See cases
Likely pathogenic
(May 2, 2023)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr19:38931386
GRCh38:
Chr19:38440746
RYR1D16GRYR1-Related DisordersUncertain significance
(Oct 23, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr19:38931388
GRCh38:
Chr19:38440748
RYR1D17NRYR1-Related Disorders, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
Central core myopathy, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1,
Malignant hyperthermia, susceptibility to, 1
Uncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr19:38931388-38931390
GRCh38:
Chr19:38440748-38440750
RYR1D17delMalignant hyperthermia of anesthesiaUncertain significance
(Apr 6, 2023)
reviewed by expert panel
FDA Recognized Database
50.
GRCh37:
Chr19:38931393
GRCh38:
Chr19:38440753
RYR1RYR1-Related DisordersLikely benign
(Sep 8, 2020)
criteria provided, single submitter
51.
GRCh37:
Chr19:38931399
GRCh38:
Chr19:38440759
RYR1RYR1-Related DisordersLikely benign
(Feb 5, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr19:38931411
GRCh38:
Chr19:38440771
RYR1RYR1-Related DisordersLikely benign
(Jul 19, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr19:38931415
GRCh38:
Chr19:38440775
RYR1T26PCongenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia, susceptibility to, 1
Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
54.
GRCh37:
Chr19:38931417
GRCh38:
Chr19:38440777
RYR1RYR1-Related DisordersLikely benign
(Oct 17, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr19:38931418
GRCh38:
Chr19:38440778
RYR1V27MRYR1-Related Disorders, not providedConflicting interpretations of pathogenicity
(Jan 2, 2023)
criteria provided, conflicting interpretations
56.
GRCh37:
Chr19:38931420
GRCh38:
Chr19:38440780
RYR1RYR1-Related DisordersLikely benign
(Apr 16, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr19:38931421
GRCh38:
Chr19:38440781
RYR1L28FRYR1-Related Disorders, not provided, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, Central core myopathy,
King Denborough syndrome
Uncertain significance
(Oct 29, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr19:38931423
GRCh38:
Chr19:38440783
RYR1RYR1-Related DisordersLikely benign
(Mar 29, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr19:38931424
GRCh38:
Chr19:38440784
RYR1K29ERYR1-Related DisordersUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr19:38931428
GRCh38:
Chr19:38440788
RYR1E30VCongenital multicore myopathy with external ophthalmoplegia, Neuromuscular disease, congenital, with uniform type 1 fiber, Central core myopathy,
Malignant hyperthermia, susceptibility to, 1, RYR1-Related Disorders, not provided
Conflicting interpretations of pathogenicity
(Oct 13, 2022)
criteria provided, conflicting interpretations
61.
GRCh37:
Chr19:38931433
GRCh38:
Chr19:38440793
RYR1L32FRYR1-Related Disorders, not specified, not provided
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
62.
GRCh37:
Chr19:38931436
GRCh38:
Chr19:38440796
RYR1K33QInborn genetic diseasesUncertain significance
(Jul 9, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr19:38931436
GRCh38:
Chr19:38440796
RYR1K33EMalignant hyperthermia, susceptibility to, 1Likely pathogenic
(Apr 6, 2023)
reviewed by expert panel
FDA Recognized Database
64.
GRCh37:
Chr19:38931437
GRCh38:
Chr19:38440797
RYR1K33RRYR1-Related DisordersUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr19:38931439
GRCh38:
Chr19:38440799
RYR1L34VRYR1-Related DisordersUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr19:38931442
GRCh38:
Chr19:38440802
RYR1C35RMalignant hyperthermia, susceptibility to, 1, succinylcholine response - Toxicity, sevoflurane response - Toxicity,
methoxyflurane response - Toxicity, isoflurane response - Toxicity, halothane response - Toxicity,
enflurane response - Toxicity, desflurane response - Toxicity
Pathogenic; drug response
(Mar 24, 2021)
reviewed by expert panel
FDA Recognized Database
67.
GRCh37:
Chr19:38931451
GRCh38:
Chr19:38440811
RYR1A38TRYR1-Related Disorders, King Denborough syndrome, Malignant hyperthermia, susceptibility to, 1,
Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia, Congenital myopathy with fiber type disproportion,
not provided
Uncertain significance
(Oct 19, 2023)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr19:38931451
GRCh38:
Chr19:38440811
RYR1A38SRYR1-Related DisordersUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr19:38931453
GRCh38:
Chr19:38440813
RYR1RYR1-Related Disorders, not specifiedLikely benign
(Oct 1, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr19:38931454
GRCh38:
Chr19:38440814
RYR1E39Knot providedUncertain significance
(Jun 1, 2023)
criteria provided, multiple submitters, no conflicts
71.
GRCh37:
Chr19:38931455
GRCh38:
Chr19:38440815
RYR1E39Gnot providedUncertain significance
(Nov 1, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr19:38931458
GRCh38:
Chr19:38440818
RYR1G40AMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)
reviewed by expert panel
FDA Recognized Database
73.
GRCh37:
Chr19:38931461
GRCh38:
Chr19:38440821
RYR1F41SRYR1-Related Disorders, not providedConflicting interpretations of pathogenicity
(Jul 19, 2022)
criteria provided, conflicting interpretations
74.
GRCh37:
Chr19:38931462
GRCh38:
Chr19:38440822
RYR1not specified, RYR1-Related DisordersLikely benign
(Aug 12, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr19:38931463
GRCh38:
Chr19:38440823
RYR1G42Snot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr19:38931463
GRCh38:
Chr19:38440823
RYR1G42RInborn genetic diseases, RYR1-Related DisordersUncertain significance
(Oct 3, 2021)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr19:38931464
GRCh38:
Chr19:38440824
RYR1G42DCentral core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia
Uncertain significance
(Apr 28, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr19:38931467
GRCh38:
Chr19:38440827
RYR1N43TCongenital multicore myopathy with external ophthalmoplegiaLikely pathogenic
(Apr 26, 2023)
criteria provided, single submitter
79.
GRCh37:
Chr19:38931469
GRCh38:
Chr19:38440829
RYR1R44CMalignant hyperthermia, susceptibility to, 1, desflurane response - Toxicity, succinylcholine response - Toxicity,
sevoflurane response - Toxicity, methoxyflurane response - Toxicity, isoflurane response - Toxicity,
halothane response - Toxicity, enflurane response - Toxicity
Likely pathogenic; drug response
(Apr 6, 2023)
reviewed by expert panel
FDA Recognized Database
80.
GRCh37:
Chr19:38931470
GRCh38:
Chr19:38440830
RYR1R44HMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 7, 2023)
reviewed by expert panel
FDA Recognized Database
81.
GRCh37:
Chr19:38931472
GRCh38:
Chr19:38440832
RYR1L45Vnot providedUncertain significance
(Sep 26, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr19:38931489
GRCh38:
Chr19:38440849
RYR1not specified, RYR1-Related DisordersLikely benign
(Apr 13, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr19:38931491
GRCh38:
Chr19:38440851
RYR1T51NMalignant hyperthermia, susceptibility to, 1Uncertain significance
(Apr 6, 2023)
reviewed by expert panel
FDA Recognized Database
84.
GRCh37:
Chr19:38931492
GRCh38:
Chr19:38440852
RYR1RYR1-Related Disorders, not specifiedLikely benign
(Jan 26, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr19:38931495
GRCh38:
Chr19:38440855
RYR1S52RRYR1-Related DisordersUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
86.
GRCh37:
Chr19:38931498
GRCh38:
Chr19:38440858
RYR1N53Knot providedUncertain significance
(Mar 23, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr19:38931498
GRCh38:
Chr19:38440858
RYR1RYR1-Related Disorders, not providedLikely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr19:38931500
GRCh38:
Chr19:38440860
RYR1A54EKing Denborough syndrome, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia,
Malignant hyperthermia, susceptibility to, 1, Congenital myopathy with fiber type disproportion, RYR1-Related Disorders
Uncertain significance
(Aug 26, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr19:38931500
GRCh38:
Chr19:38440860
RYR1A54Vnot providedUncertain significance
(Jul 11, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr19:38931501
GRCh38:
Chr19:38440861
RYR1not specified, RYR1-Related DisordersLikely benign
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr19:38931502
GRCh38:
Chr19:38440862
RYR1Q55*RYR1-Related DisordersPathogenic
(Feb 19, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr19:38931509
GRCh38:
Chr19:38440869
RYR1RYR1-Related Disorders, not providedUncertain significance
(Oct 20, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr19:38931509
GRCh38:
Chr19:38440869
RYR1RYR1-Related DisordersUncertain significance
(Jun 27, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr19:38931542
GRCh38:
Chr19:38440902
RYR1not specifiedLikely benigncriteria provided, single submitter
95.
GRCh37:
Chr19:38931578
GRCh38:
Chr19:38440938
RYR1not providednot providedno assertion provided
96.
GRCh37:
Chr19:38931640
GRCh38:
Chr19:38441000
RYR1not providedLikely benign
(Jul 26, 2018)
criteria provided, single submitter
97.
GRCh37:
Chr19:38931673
GRCh38:
Chr19:38441033
RYR1not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
98.
GRCh37:
Chr19:38932826
GRCh38:
Chr19:38442186
RYR1not providedBenign
(Jun 28, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr19:38932944
GRCh38:
Chr19:38442304
RYR1not specifiedLikely benigncriteria provided, single submitter
100.
GRCh37:
Chr19:38932945
GRCh38:
Chr19:38442305
RYR1not provided, not specifiedBenign
(Jul 9, 2018)
criteria provided, multiple submitters, no conflicts
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