| - 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:
- Chr19:41903421
- GRCh38:
- Chr19:41397516
| BCKDHA | | not provided | Benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903572
- GRCh38:
- Chr19:41397667
| BCKDHA | | not provided | Benign (Sep 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903574
- GRCh38:
- Chr19:41397669
| BCKDHA | | not provided | Benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903574
- GRCh38:
- Chr19:41397669
| BCKDHA | | not provided | Likely benign (Sep 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903671
- GRCh38:
- Chr19:41397766
| BCKDHA | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903675
- GRCh38:
- Chr19:41397770
| BCKDHA | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903699
- GRCh38:
- Chr19:41397794
| BCKDHA | | not specified, Maple syrup urine disease | Benign/Likely benign (Jul 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41903705
- GRCh38:
- Chr19:41397800
| BCKDHA | | not specified | Benign (Jun 28, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903708
- GRCh38:
- Chr19:41397803
| BCKDHA | | not specified, Maple syrup urine disease | Conflicting interpretations of pathogenicity (Feb 22, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:41903711
- GRCh38:
- Chr19:41397806
| BCKDHA | | not specified | Likely benign (Nov 9, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903729-41903730
- GRCh38:
- Chr19:41397824-41397825
| BCKDHA | I5fs | Maple syrup urine disease | Pathogenic (May 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903735
- GRCh38:
- Chr19:41397830
| BCKDHA | M1I | Maple syrup urine disease | Likely pathogenic (Jan 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903738
- GRCh38:
- Chr19:41397833
| BCKDHA | | Maple syrup urine disease | Likely benign (Nov 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903744
- GRCh38:
- Chr19:41397839
| BCKDHA | | Maple syrup urine disease | Likely benign (Oct 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903746
- GRCh38:
- Chr19:41397841
| BCKDHA | I5T | Inborn genetic diseases | Uncertain significance (May 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903746
- GRCh38:
- Chr19:41397841
| BCKDHA | I5fs | not provided, Maple syrup urine disease | Pathogenic/Likely pathogenic (Apr 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41903747
- GRCh38:
- Chr19:41397842
| BCKDHA | | Maple syrup urine disease | Likely benign (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903747
- GRCh38:
- Chr19:41397842
| BCKDHA | | not specified, Maple syrup urine disease, Inborn genetic diseases, not provided | Benign/Likely benign (Mar 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41903753
- GRCh38:
- Chr19:41397848
| BCKDHA | | Maple syrup urine disease, Inborn genetic diseases | Likely benign (Dec 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41903753
- GRCh38:
- Chr19:41397848
| BCKDHA | | Inborn genetic diseases | Likely benign (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903754
- GRCh38:
- Chr19:41397849
| BCKDHA | A8P | Inborn genetic diseases | Uncertain significance (Nov 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903756
- GRCh38:
- Chr19:41397851
| BCKDHA | | Maple syrup urine disease | Likely benign (Mar 11, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903759
- GRCh38:
- Chr19:41397854
| BCKDHA | | Maple syrup urine disease | Likely benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903760
- GRCh38:
- Chr19:41397855
| BCKDHA | V10F | Maple syrup urine disease | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903762
- GRCh38:
- Chr19:41397857
| BCKDHA | | Maple syrup urine disease | Likely benign (Nov 4, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903762
- GRCh38:
- Chr19:41397857
| BCKDHA | | Maple syrup urine disease | Likely benign (Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903764
- GRCh38:
- Chr19:41397859
| BCKDHA | W11* | Maple syrup urine disease | Likely pathogenic (Feb 16, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903765
- GRCh38:
- Chr19:41397860
| BCKDHA | W11* | Maple syrup urine disease | Pathogenic (Jun 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903766
- GRCh38:
- Chr19:41397861
| BCKDHA | | not specified, Maple syrup urine disease | Benign/Likely benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41903767
- GRCh38:
- Chr19:41397862
| BCKDHA | R12Q | Maple syrup urine disease | Uncertain significance (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903767
- GRCh38:
- Chr19:41397862
| BCKDHA | R12P | Maple syrup urine disease | Likely benign (Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903771
- GRCh38:
- Chr19:41397866
| BCKDHA | N14fs | Maple syrup urine disease | Pathogenic (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903771
- GRCh38:
- Chr19:41397866
| BCKDHA | | Maple syrup urine disease | Likely benign (Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903774
- GRCh38:
- Chr19:41397869
| BCKDHA | | Maple syrup urine disease | Likely benign (Dec 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903775
- GRCh38:
- Chr19:41397870
| BCKDHA | R15C | Maple syrup urine disease | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903779
- GRCh38:
- Chr19:41397874
| BCKDHA | G16D | Maple syrup urine disease | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903791
- GRCh38:
- Chr19:41397886
| BCKDHA | A20V | Maple syrup urine disease | Uncertain significance (Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903792
- GRCh38:
- Chr19:41397887
| BCKDHA | | Maple syrup urine disease | Likely benign (Jul 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903792
- GRCh38:
- Chr19:41397887
| BCKDHA | | Maple syrup urine disease | Likely benign (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903794
- GRCh38:
- Chr19:41397889
| BCKDHA | A21V | not provided | Uncertain significance (Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903795
- GRCh38:
- Chr19:41397890
| BCKDHA | | not specified, Maple syrup urine disease | Likely benign (Nov 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41903795
- GRCh38:
- Chr19:41397890
| BCKDHA | | not provided, Maple syrup urine disease | Conflicting interpretations of pathogenicity (Oct 22, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:41903797
- GRCh38:
- Chr19:41397892
| BCKDHA | L22fs | Maple syrup urine disease | Likely pathogenic (Mar 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903798
- GRCh38:
- Chr19:41397893
| BCKDHA | L23fs | Maple syrup urine disease | Pathogenic (Mar 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903798
- GRCh38:
- Chr19:41397893
| BCKDHA | | Maple syrup urine disease | Likely benign (Jan 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903801
- GRCh38:
- Chr19:41397896
| BCKDHA | | Maple syrup urine disease | Likely benign (Mar 24, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903805
- GRCh38:
- Chr19:41397900
| BCKDHA | | Maple syrup urine disease | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903807
- GRCh38:
- Chr19:41397902
| BCKDHA | | Maple syrup urine disease | Likely benign (Sep 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903809
- GRCh38:
- Chr19:41397904
| BCKDHA | Q27fs | Maple syrup urine disease | Pathogenic (Aug 20, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903819
- GRCh38:
- Chr19:41397914
| BCKDHA | | Maple syrup urine disease | Likely benign (Dec 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903844
- GRCh38:
- Chr19:41397939
| BCKDHA | | Maple syrup urine disease | Uncertain significance (Feb 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903845
- GRCh38:
- Chr19:41397940
| BCKDHA | | Maple syrup urine disease | Likely pathogenic (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903848
- GRCh38:
- Chr19:41397943
| BCKDHA | | Maple syrup urine disease | Likely benign (May 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41903852
- GRCh38:
- Chr19:41397947
| BCKDHA | | Maple syrup urine disease | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41904165
- GRCh38:
- Chr19:41398260
| BCKDHA | | not provided | Benign (Jun 19, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916526
- GRCh38:
- Chr19:41410621
| BCKDHA | | Maple syrup urine disease | Likely benign (Mar 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916527
- GRCh38:
- Chr19:41410622
| BCKDHA | | Maple syrup urine disease | Uncertain significance (Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916533
- GRCh38:
- Chr19:41410628
| BCKDHA | | Maple syrup urine disease | Likely benign (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916533
- GRCh38:
- Chr19:41410628
| BCKDHA | | Maple syrup urine disease | Likely benign (Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916536
- GRCh38:
- Chr19:41410631
| BCKDHA | | Maple syrup urine disease | Likely benign (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916537
- GRCh38:
- Chr19:41410632
| BCKDHA | | Maple syrup urine disease | Likely benign (May 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916538
- GRCh38:
- Chr19:41410633
| BCKDHA | | Maple syrup urine disease | Likely benign (Apr 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916541
- GRCh38:
- Chr19:41410636
| BCKDHA | | Maple syrup urine disease | Pathogenic (Oct 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916541-41916552
- GRCh38:
- Chr19:41410636-41410647
| BCKDHA | | Maple syrup urine disease | Uncertain significance (Aug 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916543-41916544
- GRCh38:
- Chr19:41410638-41410639
| BCKDHA | R40fs | Maple syrup urine disease | Pathogenic (Mar 14, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916543-41916544
- GRCh38:
- Chr19:41410638-41410639
| BCKDHA | R40fs | Inborn genetic diseases, not provided, Maple syrup urine disease
| Pathogenic (Oct 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916544
- GRCh38:
- Chr19:41410639
| BCKDHA | R40fs | not provided, Maple syrup urine disease type 1A, Maple syrup urine disease
| Pathogenic (Oct 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916547
- GRCh38:
- Chr19:41410642
| BCKDHA | | not specified, Maple syrup urine disease | Benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916547
- GRCh38:
- Chr19:41410642
| BCKDHA | | Inborn genetic diseases, not specified, Maple syrup urine disease
| Benign/Likely benign (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916548
- GRCh38:
- Chr19:41410643
| BCKDHA | P39S | Maple syrup urine disease | Likely benign (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916549
- GRCh38:
- Chr19:41410644
| BCKDHA | P39R | Maple syrup urine disease | Likely benign (Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916549
- GRCh38:
- Chr19:41410644
| BCKDHA | P39H | not specified, Maple syrup urine disease, not provided
| Benign/Likely benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916550
- GRCh38:
- Chr19:41410645
| BCKDHA | | Maple syrup urine disease | Likely benign (Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916550
- GRCh38:
- Chr19:41410645
| BCKDHA | | Maple syrup urine disease | Likely benign (Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916550
- GRCh38:
- Chr19:41410645
| BCKDHA | | Inborn genetic diseases, not provided, Maple syrup urine disease
| Likely benign (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916552-41916553
- GRCh38:
- Chr19:41410647-41410648
| BCKDHA | | Maple syrup urine disease | Uncertain significance (Dec 29, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916556
- GRCh38:
- Chr19:41410651
| BCKDHA | | Maple syrup urine disease | Likely benign (Apr 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916558
- GRCh38:
- Chr19:41410653
| BCKDHA | Q42R | Maple syrup urine disease | Conflicting interpretations of pathogenicity (Oct 19, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:41916559
- GRCh38:
- Chr19:41410654
| BCKDHA | | Maple syrup urine disease | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916560
- GRCh38:
- Chr19:41410655
| BCKDHA | Q43* | Maple syrup urine disease | Pathogenic/Likely pathogenic (Sep 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916562
- GRCh38:
- Chr19:41410657
| BCKDHA | | Maple syrup urine disease | Likely benign (Jan 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916563
- GRCh38:
- Chr19:41410658
| BCKDHA | Q44* | Maple syrup urine disease | Pathogenic (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916568
- GRCh38:
- Chr19:41410663
| BCKDHA | F45L | Maple syrup urine disease | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916570
- GRCh38:
- Chr19:41410665
| BCKDHA | S46* | Maple syrup urine disease | Pathogenic/Likely pathogenic (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916571
- GRCh38:
- Chr19:41410666
| BCKDHA | | Maple syrup urine disease | Likely benign (Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916576
- GRCh38:
- Chr19:41410671
| BCKDHA | L48fs | Maple syrup urine disease | Pathogenic (Nov 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916576
- GRCh38:
- Chr19:41410671
| BCKDHA | L48P | Maple syrup urine disease | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916581
- GRCh38:
- Chr19:41410676
| BCKDHA | D50H | Maple syrup urine disease | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916589
- GRCh38:
- Chr19:41410684
| BCKDHA | | Maple syrup urine disease | Likely benign (May 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916592
- GRCh38:
- Chr19:41410687
| BCKDHA | Q53H | Maple syrup urine disease | Conflicting interpretations of pathogenicity (Oct 21, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:41916598
- GRCh38:
- Chr19:41410693
| BCKDHA | | Maple syrup urine disease | Likely benign (Mar 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916604
- GRCh38:
- Chr19:41410699
| BCKDHA | | Maple syrup urine disease | Likely benign (Sep 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916606
- GRCh38:
- Chr19:41410701
| BCKDHA | S58L | Maple syrup urine disease | Uncertain significance (May 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916607
- GRCh38:
- Chr19:41410702
| BCKDHA | | Maple syrup urine disease | Likely benign (Nov 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916609
- GRCh38:
- Chr19:41410704
| BCKDHA | A59V | Maple syrup urine disease | Likely benign (Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916610
- GRCh38:
- Chr19:41410705
| BCKDHA | | Maple syrup urine disease, Inborn genetic diseases | Likely benign (May 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:41916619
- GRCh38:
- Chr19:41410714
| BCKDHA | | Maple syrup urine disease | Likely benign (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41916625
- GRCh38:
- Chr19:41410720
| BCKDHA | | Maple syrup urine disease | Likely benign (Nov 26, 2021) | criteria provided, single submitter |