| - GRCh37:
- Chr19:11338618-45129651
- GRCh38:
- Chr19:11227942-44626354
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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 cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38923902
- GRCh38:
- Chr19:38433262
| RYR1 | | not provided | Uncertain significance (Jun 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924039
- GRCh38:
- Chr19:38433399
| RYR1 | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924068
- GRCh38:
- Chr19:38433428
| RYR1 | | not provided | Likely benign (Feb 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924156
- GRCh38:
- Chr19:38433516
| RYR1 | | not provided | Likely benign (Oct 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924172
- GRCh38:
- Chr19:38433532
| RYR1 | | not provided | Likely benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924352
- GRCh38:
- Chr19:38433712
| LOC130064350, RYR1 | | Malignant hyperthermia, susceptibility to, 1, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924362
- GRCh38:
- Chr19:38433722
| RYR1 | | not 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 |
| - GRCh37:
- Chr19:38924368
- GRCh38:
- Chr19:38433728
| RYR1 | | Congenital 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 |
| - GRCh37:
- Chr19:38924382-38924405
- GRCh38:
- Chr19:38433742-38433765
| RYR1 | | not provided | Likely benign (Feb 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924386-38924387
- GRCh38:
- Chr19:38433746-38433747
| RYR1 | | Malignant 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 |
| - GRCh37:
- Chr19:38924396
- GRCh38:
- Chr19:38433756
| RYR1 | | Neuromuscular 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 |
| - GRCh37:
- Chr19:38924397-38924398
- GRCh38:
- Chr19:38433757-38433758
| RYR1 | | Malignant 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 |
| - GRCh37:
- Chr19:38924401
- GRCh38:
- Chr19:38433761
| RYR1 | | Malignant hyperthermia, susceptibility to, 1, Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924401
- GRCh38:
- Chr19:38433761
| RYR1 | | Congenital 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 |
| - GRCh37:
- Chr19:38924405
- GRCh38:
- Chr19:38433765
| RYR1 | | Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924409
- GRCh38:
- Chr19:38433769
| RYR1 | | Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy
| Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924433
- GRCh38:
- Chr19:38433793
| RYR1 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924439
- GRCh38:
- Chr19:38433799
| RYR1 | | Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924450-38935337
- GRCh38:
- Chr19:38433810-38444697
| RYR1 | | RYR1-Related Disorders | Uncertain significance (Nov 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924472
- GRCh38:
- Chr19:38433832
| RYR1 | M1I | not provided | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924474
- GRCh38:
- Chr19:38433834
| RYR1 | G2A | Neuromuscular 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 |
| - GRCh37:
- Chr19:38924490
- GRCh38:
- Chr19:38433850
| RYR1 | | RYR1-Related Disorders | Likely benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924490-38924491
- GRCh38:
- Chr19:38433850-38433851
| RYR1 | | RYR1-Related Disorders | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924493
- GRCh38:
- Chr19:38433853
| RYR1 | D8E | not provided, Congenital multicore myopathy with external ophthalmoplegia | Uncertain significance (May 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38924502
- GRCh38:
- Chr19:38433862
| RYR1 | | not provided | Likely benign (Jul 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924504-38924506
- GRCh38:
- Chr19:38433864-38433866
| RYR1 | F12fs | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr19:38924507
- GRCh38:
- Chr19:38433867
| RYR1 | L13R | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic (Apr 7, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:38924509
- GRCh38:
- Chr19:38433869
| RYR1 | R14W | not provided | Uncertain significance (May 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924509
- GRCh38:
- Chr19:38433869
| RYR1 | | RYR1-Related Disorders | Likely benign (Jun 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924511
- GRCh38:
- Chr19:38433871
| RYR1 | | RYR1-Related Disorders | Likely benign (Feb 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924514
- GRCh38:
- Chr19:38433874
| RYR1 | | RYR1-Related Disorders | Uncertain significance (Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924515
- GRCh38:
- Chr19:38433875
| RYR1 | | RYR1-Related Disorders | Likely pathogenic (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924520
- GRCh38:
- Chr19:38433880
| RYR1 | | not provided | Uncertain significance (Jan 13, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924546
- GRCh38:
- Chr19:38433906
| RYR1 | | not specified | Benign (Oct 15, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924635
- GRCh38:
- Chr19:38433995
| RYR1 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38924814
- GRCh38:
- Chr19:38434174
| RYR1 | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931375
- GRCh38:
- Chr19:38440735
| RYR1 | | RYR1-Related Disorders | Likely benign (Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931375
- GRCh38:
- Chr19:38440735
| RYR1 | | RYR1-Related Disorders | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931376
- GRCh38:
- Chr19:38440736
| RYR1 | | RYR1-Related Disorders | Likely benign (Jan 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931380
- GRCh38:
- Chr19:38440740
| RYR1 | | RYR1-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 |
| - GRCh37:
- Chr19:38931381
- GRCh38:
- Chr19:38440741
| RYR1 | | RYR1-Related Disorders | Likely benign (Oct 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931381
- GRCh38:
- Chr19:38440741
| RYR1 | | RYR1-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 |
| - GRCh37:
- Chr19:38931381
- GRCh38:
- Chr19:38440741
| RYR1 | | RYR1-Related Disorders, not specified, not provided
| Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931384
- GRCh38:
- Chr19:38440744
| RYR1 | | RYR1-Related Disorders, RYR1-related myopathy, See cases
| Likely pathogenic (May 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931386
- GRCh38:
- Chr19:38440746
| RYR1 | D16G | RYR1-Related Disorders | Uncertain significance (Oct 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931388
- GRCh38:
- Chr19:38440748
| RYR1 | D17N | RYR1-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 |
| - GRCh37:
- Chr19:38931388-38931390
- GRCh38:
- Chr19:38440748-38440750
| RYR1 | D17del | Malignant hyperthermia of anesthesia | Uncertain significance (Apr 6, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:38931393
- GRCh38:
- Chr19:38440753
| RYR1 | | RYR1-Related Disorders | Likely benign (Sep 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931399
- GRCh38:
- Chr19:38440759
| RYR1 | | RYR1-Related Disorders | Likely benign (Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931411
- GRCh38:
- Chr19:38440771
| RYR1 | | RYR1-Related Disorders | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931415
- GRCh38:
- Chr19:38440775
| RYR1 | T26P | Congenital multicore myopathy with external ophthalmoplegia, Central core myopathy, Malignant hyperthermia, susceptibility to, 1
| Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931417
- GRCh38:
- Chr19:38440777
| RYR1 | | RYR1-Related Disorders | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931418
- GRCh38:
- Chr19:38440778
| RYR1 | V27M | RYR1-Related Disorders, not provided | Conflicting interpretations of pathogenicity (Jan 2, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38931420
- GRCh38:
- Chr19:38440780
| RYR1 | | RYR1-Related Disorders | Likely benign (Apr 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931421
- GRCh38:
- Chr19:38440781
| RYR1 | L28F | RYR1-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 |
| - GRCh37:
- Chr19:38931423
- GRCh38:
- Chr19:38440783
| RYR1 | | RYR1-Related Disorders | Likely benign (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931424
- GRCh38:
- Chr19:38440784
| RYR1 | K29E | RYR1-Related Disorders | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931428
- GRCh38:
- Chr19:38440788
| RYR1 | E30V | Congenital 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 |
| - GRCh37:
- Chr19:38931433
- GRCh38:
- Chr19:38440793
| RYR1 | L32F | RYR1-Related Disorders, not specified, not provided
| Conflicting interpretations of pathogenicity (Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38931436
- GRCh38:
- Chr19:38440796
| RYR1 | K33Q | Inborn genetic diseases | Uncertain significance (Jul 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931436
- GRCh38:
- Chr19:38440796
| RYR1 | K33E | Malignant hyperthermia, susceptibility to, 1 | Likely pathogenic (Apr 6, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:38931437
- GRCh38:
- Chr19:38440797
| RYR1 | K33R | RYR1-Related Disorders | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931439
- GRCh38:
- Chr19:38440799
| RYR1 | L34V | RYR1-Related Disorders | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931442
- GRCh38:
- Chr19:38440802
| RYR1 | C35R | Malignant 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 |
| - GRCh37:
- Chr19:38931451
- GRCh38:
- Chr19:38440811
| RYR1 | A38T | RYR1-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 |
| - GRCh37:
- Chr19:38931451
- GRCh38:
- Chr19:38440811
| RYR1 | A38S | RYR1-Related Disorders | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931453
- GRCh38:
- Chr19:38440813
| RYR1 | | RYR1-Related Disorders, not specified | Likely benign (Oct 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931454
- GRCh38:
- Chr19:38440814
| RYR1 | E39K | not provided | Uncertain significance (Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931455
- GRCh38:
- Chr19:38440815
| RYR1 | E39G | not provided | Uncertain significance (Nov 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931458
- GRCh38:
- Chr19:38440818
| RYR1 | G40A | Malignant hyperthermia, susceptibility to, 1 | Uncertain significance (Apr 6, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:38931461
- GRCh38:
- Chr19:38440821
| RYR1 | F41S | RYR1-Related Disorders, not provided | Conflicting interpretations of pathogenicity (Jul 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:38931462
- GRCh38:
- Chr19:38440822
| RYR1 | | not specified, RYR1-Related Disorders | Likely benign (Aug 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931463
- GRCh38:
- Chr19:38440823
| RYR1 | G42S | not provided | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931463
- GRCh38:
- Chr19:38440823
| RYR1 | G42R | Inborn genetic diseases, RYR1-Related Disorders | Uncertain significance (Oct 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931464
- GRCh38:
- Chr19:38440824
| RYR1 | G42D | Central core myopathy, Malignant hyperthermia, susceptibility to, 1, Congenital multicore myopathy with external ophthalmoplegia
| Uncertain significance (Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931467
- GRCh38:
- Chr19:38440827
| RYR1 | N43T | Congenital multicore myopathy with external ophthalmoplegia | Likely pathogenic (Apr 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931469
- GRCh38:
- Chr19:38440829
| RYR1 | R44C | Malignant 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 |
| - GRCh37:
- Chr19:38931470
- GRCh38:
- Chr19:38440830
| RYR1 | R44H | Malignant hyperthermia, susceptibility to, 1 | Uncertain significance (Apr 7, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:38931472
- GRCh38:
- Chr19:38440832
| RYR1 | L45V | not provided | Uncertain significance (Sep 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931489
- GRCh38:
- Chr19:38440849
| RYR1 | | not specified, RYR1-Related Disorders | Likely benign (Apr 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931491
- GRCh38:
- Chr19:38440851
| RYR1 | T51N | Malignant hyperthermia, susceptibility to, 1 | Uncertain significance (Apr 6, 2023) | reviewed by expert panel FDA Recognized Database |
| - GRCh37:
- Chr19:38931492
- GRCh38:
- Chr19:38440852
| RYR1 | | RYR1-Related Disorders, not specified | Likely benign (Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931495
- GRCh38:
- Chr19:38440855
| RYR1 | S52R | RYR1-Related Disorders | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931498
- GRCh38:
- Chr19:38440858
| RYR1 | N53K | not provided | Uncertain significance (Mar 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931498
- GRCh38:
- Chr19:38440858
| RYR1 | | RYR1-Related Disorders, not provided | Likely benign (Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931500
- GRCh38:
- Chr19:38440860
| RYR1 | A54E | King 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 |
| - GRCh37:
- Chr19:38931500
- GRCh38:
- Chr19:38440860
| RYR1 | A54V | not provided | Uncertain significance (Jul 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931501
- GRCh38:
- Chr19:38440861
| RYR1 | | not specified, RYR1-Related Disorders | Likely benign (Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931502
- GRCh38:
- Chr19:38440862
| RYR1 | Q55* | RYR1-Related Disorders | Pathogenic (Feb 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931509
- GRCh38:
- Chr19:38440869
| RYR1 | | RYR1-Related Disorders, not provided | Uncertain significance (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:38931509
- GRCh38:
- Chr19:38440869
| RYR1 | | RYR1-Related Disorders | Uncertain significance (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931542
- GRCh38:
- Chr19:38440902
| RYR1 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931578
- GRCh38:
- Chr19:38440938
| RYR1 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr19:38931640
- GRCh38:
- Chr19:38441000
| RYR1 | | not provided | Likely benign (Jul 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38931673
- GRCh38:
- Chr19:38441033
| RYR1 | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38932826
- GRCh38:
- Chr19:38442186
| RYR1 | | not provided | Benign (Jun 28, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:38932944
- GRCh38:
- Chr19:38442304
| RYR1 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr19:38932945
- GRCh38:
- Chr19:38442305
| RYR1 | | not provided, not specified | Benign (Jul 9, 2018) | criteria provided, multiple submitters, no conflicts |