| - 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:
- Chr19:41448821-41510949
- GRCh38:
- Chr19:40942916-41005044
| CYP2B6, LOC110599575, LOC110599577 | | See cases | Benign (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:41497292-41497293
- GRCh38:
- Chr19:40991387-40991388
| CYP2B6 | D28fs | not specified | Benign (Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41497295-41497296
- GRCh38:
- Chr19:40991390-40991391
| CYP2B6 | R29fs | not specified | Benign (Jan 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41497340
- GRCh38:
- Chr19:40991435
| CYP2B6 | L44V | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41509920
- GRCh38:
- Chr19:41004015
| CYP2B6 | Y62* | Efavirenz response | drug response (Oct 11, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr19:41510027
- GRCh38:
- Chr19:41004122
| CYP2B6 | R98Q | Inborn genetic diseases | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510038
- GRCh38:
- Chr19:41004133
| CYP2B6 | A102S | Inborn genetic diseases | Uncertain significance (Aug 10, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510047
- GRCh38:
- Chr19:41004142
| CYP2B6 | D105H | Inborn genetic diseases | Uncertain significance (Sep 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510063
- GRCh38:
- Chr19:41004158
| CYP2B6 | G110V | Efavirenz response | drug response (May 15, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr19:41510066
- GRCh38:
- Chr19:41004161
| CYP2B6 | Y111C | Inborn genetic diseases | Uncertain significance (Mar 20, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510208
- GRCh38:
- Chr19:41004303
| CYP2B6 | I114T | Efavirenz response | drug response (May 15, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr19:41510286
- GRCh38:
- Chr19:41004381
| CYP2B6 | R140Q | not provided | Likely benign (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510312
- GRCh38:
- Chr19:41004407
| CYP2B6 | E149K | Inborn genetic diseases | Uncertain significance (Jan 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510339
- GRCh38:
- Chr19:41004434
| CYP2B6 | R158W | Inborn genetic diseases | Uncertain significance (Jan 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41510350
- GRCh38:
- Chr19:41004445
| CYP2B6 | K161N | Inborn genetic diseases | Uncertain significance (Nov 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41512841
- GRCh38:
- Chr19:41006936
| CYP2B6 | Q172H | efavirenz response - Toxicity, nevirapine response - Metabolism/PK, efavirenz response - Metabolism/PK
| drug response (Mar 24, 2021) | reviewed by expert panel |
| - GRCh37:
- Chr19:41512848
- GRCh38:
- Chr19:41006943
| CYP2B6 | T175A | Inborn genetic diseases | Uncertain significance (Aug 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41512873
- GRCh38:
- Chr19:41006968
| CYP2B6 | V183G | Efavirenz response | drug response (May 15, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr19:41512918
- GRCh38:
- Chr19:41007013
| CYP2B6 | M198T | Efavirenz response | drug response (Jan 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr19:41512962
- GRCh38:
- Chr19:41007057
| CYP2B6 | F213L | Efavirenz response | drug response (May 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr19:41515255
- GRCh38:
- Chr19:41009350
| CYP2B6 | S259R | not provided | Likely benign (Sep 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41515263
- GRCh38:
- Chr19:41009358
| CYP2B6 | K262R | Efavirenz response | Benign (Aug 5, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41515267
- GRCh38:
- Chr19:41009362
| CYP2B6 | D263E | Inborn genetic diseases | Uncertain significance (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41515275
- GRCh38:
- Chr19:41009370
| CYP2B6 | D266V | Inborn genetic diseases | Uncertain significance (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518221
- GRCh38:
- Chr19:41012316
| CYP2B6 | I328T | nevirapine response - Toxicity | drug response (Mar 24, 2021) | reviewed by expert panel |
| - GRCh37:
- Chr19:41518223
- GRCh38:
- Chr19:41012318
| CYP2B6 | E329K | Inborn genetic diseases | Uncertain significance (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518235
- GRCh38:
- Chr19:41012330
| CYP2B6 | G333S | Inborn genetic diseases | Uncertain significance (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518260
- GRCh38:
- Chr19:41012355
| CYP2B6 | H341R | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518266
- GRCh38:
- Chr19:41012361
| CYP2B6 | R343P | Inborn genetic diseases | Uncertain significance (Feb 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518281
- GRCh38:
- Chr19:41012376
| CYP2B6 | Y348C | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518319
- GRCh38:
- Chr19:41012414
| CYP2B6 | D361N | Inborn genetic diseases | Uncertain significance (May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518370
- GRCh38:
- Chr19:41012465
| CYP2B6 | R378* | Efavirenz response | drug response (Jan 1, 2006) | no assertion criteria provided |
| - GRCh37:
- Chr19:41518585
- GRCh38:
- Chr19:41012680
| CYP2B6 | E387K | Inborn genetic diseases | Uncertain significance (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518642
- GRCh38:
- Chr19:41012737
| CYP2B6 | D406N | Inborn genetic diseases | Uncertain significance (Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518644
- GRCh38:
- Chr19:41012739
| CYP2B6 | | not provided | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41518678
- GRCh38:
- Chr19:41012773
| CYP2B6 | G418W | Inborn genetic diseases | Uncertain significance (Jul 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41522575
- GRCh38:
- Chr19:41016670
| CYP2B6 | G440V | Inborn genetic diseases | Uncertain significance (May 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41522670
- GRCh38:
- Chr19:41016765
| CYP2B6 | P472S | Inborn genetic diseases | Uncertain significance (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41522728
- GRCh38:
- Chr19:41016823
| CYP2B6 | R491H | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:39904727-42931301
| ACTMAP, AKT2, ARHGEF1, ATP1A3, AXL, B3GNT8, B9D2, BCKDHA, BLVRB, C19orf47, CCDC97, CCNP, CD79A, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CIC, CLC, CNFN, COQ8B, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, DEDD2, DLL3, DMAC2, DMRTC2, DYRK1B, EGLN2, EID2, EID2B, ERF, ERICH4, EXOSC5, FBL, FCGBP, GRIK5, GSK3A, HIPK4, HNRNPUL1, ITPKC, LEUTX, LGALS13, LGALS14, LGALS16, LIPE, LTBP4, LYPD4, MAP3K10, MEGF8, MIA, NUMBL, PAFAH1B3, PLD3, PLEKHG2, POU2F2, PRR19, PRX, PSMC4, RAB4B, RABAC1, RPS16, RPS19, SELENOV, SERTAD1, SERTAD3, SHKBP1, SNRPA, SPTBN4, SUPT5H, TGFB1, TIMM50, TMEM145, TMEM91, TTC9B, ZNF526, ZNF546, ZNF574, ZNF780A, ZNF780B | | TWIST1-related craniosynostosis, Congenital hypoplastic anemia, MEGF8-related Carpenter syndrome, Maple syrup urine disease | Uncertain significance (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41352689-41604171
| CYP2A13, CYP2A6, CYP2A7, CYP2B6 | | not provided | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:41304025-41928997
| B9D2, CYP2S1, CYP2F1, CYP2B6, EGLN2, EXOSC5, HNRNPUL1, CYP2A7, AXL, BCKDHA, CYP2A13, CCDC97, TGFB1, CYP2A6, TMEM91 | | not provided | Uncertain significance (Mar 18, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr19:28271106-49213832
| ACP7, ACTMAP, ACTN4, AKT2, ALKBH6, ANKRD27, AP2S1, APLP1, APOC1, APOC2, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGEF1, ATP1A3, ATP4A, AXL, B3GNT8, B9D2, BBC3, BCAM, BCKDHA, BCL3, BICRA, BLOC1S3, BLVRB, BSPH1, C19orf12, C19orf33, C19orf47, C5AR1, C5AR2, CA11, CABP5, CADM4, CALM3, CAPN12, CAPNS1, CARD8, CATSPERG, CBLC, CCDC61, CCDC8, CCDC9, CCDC97, CCNE1, CCNP, CD177, CD22, CD79A, CEACAM1, CEACAM16, CEACAM19, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPG, CEP89, CHST8, CIC, CKM, CLASRP, CLC, CLIP3, CLPTM1, CNFN, COQ8B, COX6B1, COX7A1, CRX, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYTH2, DACT3, DBP, DEDD2, DHX34, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DPF1, DPY19L3, DYRK1B, ECH1, EGLN2, EHD2, EID2, EID2B, EIF3K, ELSPBP1, EML2, EMP3, ERCC1, ERCC2, ERF, ERICH4, ETHE1, ETV2, EXOC3L2, EXOSC5, FAAP24, FAM187B, FAM83E, FAM98C, FBL, FBXO17, FBXO27, FBXO46, FCGBP, FFAR1, FFAR2, FFAR3, FKRP, FOSB, FOXA3, FUT2, FXYD1, FXYD3, FXYD5, FXYD7, GAPDHS, GARRE1, GEMIN7, GGN, GIPR, GMFG, GNG8, GPATCH1, GPI, GPR4, GPR42, GRAMD1A, GRIK5, GRIN2D, GRWD1, GSK3A, HAMP, HAUS5, HCST, HIF3A, HIPK4, HNRNPL, HNRNPUL1, HPN, HSPB6, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGSF23, INAFM1, IRF2BP1, IRGC, IRGQ, ITPKC, KCNJ14, KCNK6, KCNN4, KCTD15, KDELR1, KIRREL2, KLC3, KMT2B, KPTN, KRTDAP, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LIG1, LIN37, LIPE, LMTK3, LOC100507646, LOC400706, LRFN1, LRFN3, LRP3, LSM14A, LSR, LTBP4, LYPD3, LYPD4, LYPD5, MAG, MAP3K10, MAP4K1, MARK4, MED29, MEGF8, MEIS3, MIA, MRPS12, MYPOP, NANOS2, NAPA, NCCRP1, NECTIN2, NFKBIB, NFKBID, NKPD1, NOP53, NOVA2, NPAS1, NPHS1, NTN5, NUDT19, NUMBL, ODAD1, OPA3, OVOL3, PAF1, PAFAH1B3, PAK4, PDCD2L, PDCD5, PEPD, PGLYRP1, PHLDB3, PINLYP, PLA2G4C, PLAUR, PLD3, PLEKHF1, PLEKHG2, PNMA8A, PNMA8B, POLR1G, POLR2I, POP4, POU2F2, PPM1N, PPP1R13L, PPP1R14A, PPP1R37, PPP5C, PPP5D1, PRG1, PRKD2, PRODH2, PROSER3, PRR19, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PTGIR, PVR, QPCTL, RAB4B, RABAC1, RASGRP4, RBM42, RELB, RGS9BP, RHPN2, RINL, RPL18, RPS16, RPS19, RSPH6A, RTN2, RYR1, SAE1, SAMD4B, SARS2, SBSN, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SERTAD1, SERTAD3, SHKBP1, SIPA1L3, SIRT2, SIX5, SLC1A5, SLC7A10, SLC7A9, SLC8A2, SMG9, SNRPA, SNRPD2, SPACA4, SPHK2, SPINT2, SPRED3, SPTBN4, SRRM5, STRN4, SULT2A1, SULT2B1, SUPT5H, SYCN, SYMPK, SYNE4, SYNGR4, TBCB, TDRD12, TEX101, TGFB1, THAP8, TIMM50, TMEM143, TMEM145, TMEM147, TMEM160, TMEM91, TOMM40, TPRX1, TRAPPC6A, TRU-TCA1-1, TSHZ3, TTC9B, TYROBP, U2AF1L4, UBA2, UPK1A, UQCRFS1, URI1, USF2, VASP, VSTM2B, WDR62, WDR87, WDR88, WTIP, XRCC1, YIF1B, ZBTB32, ZC3H4, ZFP14, ZFP30, ZFP36, ZFP82, ZNF112, ZNF114, ZNF146, ZNF155, ZNF180, ZNF181, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF260, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF345, ZNF382, ZNF383, ZNF404, ZNF420, ZNF428, ZNF45, ZNF461, ZNF507, ZNF526, ZNF527, ZNF529, ZNF536, ZNF540, ZNF541, ZNF546, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF585A, ZNF585B, ZNF599, ZNF607, ZNF780A, ZNF780B, ZNF781, ZNF790, ZNF792, ZNF793, ZNF829, ZNF850, ZNF875, ZSWIM9 | | not provided | Pathogenic (Oct 13, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr19:260912-59097160
| ZNF426, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTMAP, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADGRE1, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADM5, AKAP8, AKAP8L, AKT1S1, AKT2, ALDH16A1, ALKBH6, ALKBH7, AMH, ANGPTL4, ANGPTL6, ANGPTL8, ANKLE1, ANKRD24, ANKRD27, ANO8, AP1M1, AP1M2, AP2A1, AP2S1, AP3D1, APBA3, APC2, APLP1, APOC1, APOC2, APOC4, APOE, ARHGAP33, ARHGAP35, ARHGAP45, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATCAY, ATF5, ATG4D, ATP13A1, ATP1A3, ATP4A, ATP5F1D, ATP8B3, AURKC, AXL, AZU1, B3GNT3, B3GNT8, B9D2, BABAM1, BAX, BBC3, BCAM, BCAT2, BCKDHA, BCL2L12, BCL3, BEST2, BICRA, BLOC1S3, BLVRB, BORCS8, BRD4, BRME1, BRSK1, BSG, BSPH1, BST2, BTBD2, C19orf12, C19orf18, C19orf25, C19orf33, C19orf38, C19orf44, C19orf47, C19orf53, C19orf67, C19orf73, C19orf81, C2CD4C, C3, C5AR1, C5AR2, CA11, CABP5, CACNA1A, CACNG6, CACNG7, CACNG8, CACTIN, CADM4, CALM3, CALR, CALR3, CAMSAP3, CAPN12, CAPNS1, CAPS, CARD8, CARM1, CASP14, CATSPERD, CATSPERG, CBARP, CBLC, CC2D1A, CCDC106, CCDC124, CCDC159, CCDC61, CCDC8, CCDC9, CCDC97, CCL25, CCNE1, CCNP, CD177, CD209, CD22, CD320, CD33, CD37, CD70, CD79A, CDC34, CDC37, CDC42EP5, CDKN2D, CEACAM1, CEACAM16, CEACAM18, CEACAM19, CEACAM20, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEBPA, CEBPG, CELF5, CEP89, CERS1, CERS4, CFD, CGB1, CGB2, CGB3, CGB5, CGB7, CGB8, CHAF1A, CHERP, CHMP2A, CHST8, CIB3, CIC, CILP2, CIMAP1D, CIRBP, CKM, CLASRP, CLC, CLDND2, CLEC11A, CLEC17A, CLEC4G, CLEC4M, CLIP3, CLPP, CLPTM1, CNFN, CNN1, CNN2, COPE, CNOT3, COL5A3, COLGALT1, COMP, COQ8B, COX6B1, COX6B2, COX7A1, CPAMD8, CPT1C, CRB3, CREB3L3, CRLF1, CRTC1, CRX, CSNK1G2, CTU1, CTXN1, CXCL17, CYP2A13, CYP2A6, CYP2A7, CYP2B6, CYP2F1, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, CYTH2, DACT3, DAND5, DAPK3, DAZAP1, DBP, DCAF15, DDA1, DDX39A, DDX49, DEDD2, DENND1C, DHDH, DHPS, DHX34, DIRAS1, DKKL1, DLL3, DMAC2, DMKN, DMPK, DMRTC2, DMWD, DNAAF3, DNAJB1, DNASE2, DNM2, DNMT1, DOCK6, DOHH, DOT1L, DPF1, DPP9, DPRX, DPY19L3, DUS3L, DUXA, DYRK1B, EBI3, ECH1, ECSIT, EEF2, EFNA2, EGLN2, EHD2, EID2, EID2B, EIF3G, EIF3K, ELANE, ELAVL1, ELAVL3, ELL, ELOF1, ELSPBP1, EMC10, EML2, EMP3, EPHX3, EPN1, EPOR, EPS15L1, EPS8L1, ERCC1, ERCC2, ERF, ERICH4, ERVV-1, ERVV-2, ETFB, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, F2RL3, FAAP24, FAM174C, FAM187B, FAM32A, FAM83E, FAM98C, FARSA, FBL, FBN3, FBXL12, FBXO17, FBXO27, FBXO46, FBXW9, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX2, FEM1A, FFAR1, FFAR2, FFAR3, FGF21, FGF22, FIZ1, FKBP8, FKRP, FLT3LG, FOSB, FOXA3, FPR1, FPR2, FPR3, FSD1, FSTL3, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FUZ, FXYD1, FXYD3, FXYD5, FXYD7, FZR1, GADD45B, GADD45GIP1, GALP, GAMT, GAPDHS, GARIN5A, GARIN5B, GARRE1, GATAD2A, GCDH, GDF1, GDF15, GEMIN7, GET3, GGN, GIPC1, GIPC3, GIPR, GMFG, GMIP, GNA11, GNA15, GNG7, GNG8, GP6, GPATCH1, GPI, GPR108, GPR32, GPR4, GPR42, GPX4, GRAMD1A, GRIK5, GRIN2D, GRIN3B, GRWD1, GSK3A, GTF2F1, GTPBP3, GYS1, GZMM, HAMP, HAPLN4, HAS1, HAUS5, HAUS8, HCN2, HCST, HIF3A, HIPK4, HMG20B, HNRNPL, HNRNPM, HNRNPUL1, HOMER3, HOOK2, HPN, HRC, HSD11B1L, HSD17B14, HSH2D, HSPB6, HSPBP1, ICAM1, ICAM3, ICAM4, ICAM5, IER2, IFI30, IFNL1, IFNL2, IFNL3, IGFL1, IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, INSR, IQCN, IRF2BP1, IRF3, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IZUMO4, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIRREL2, KISS1R, KLC3, KLF1, KLF16, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LENG1, LENG8, LENG9, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LIM2, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED26, MED29, MEF2B, MEGF8, MEIS3, MEX3D, MFSD12, MIA, MICOS13, MIDN, MIER2, MIR125A, MIR150, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCLN, NFIC, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NFIX, NFKBIB, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NOSIP, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, P2RY11, PAF1, PAFAH1B3, PAK4, PALM, PALM3, PBX4, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRODH2, PROSER3, PRSS57, PRPF31, PRR12, PRR19, PRR22, PRRG2, PRTN3, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RNF126, RPL13A, RPL18, RPL18A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SAXO5, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A10, SLC7A9, SLC8A2, SMARCA4, SMG9, SMIM17, SMIM24, SMIM7, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPACA4, SPC24, SPHK2, SPIB, SPINT2, SPMAP2, SPPL2B, SPRED3, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYMPK, SYNE4, SYNGR4, SYT3, SYT5, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TDRD12, TEAD2, TECR, TEKTIP1, TEKTL1, TEX101, TFPT, TGFB1, TGFBR3L, THAP8, THOP1, TICAM1, TIMM13, TIMM29, TIMM44, TIMM50, TINCR, TJP3, TLE2, TLE5, TLE6, TM6SF2, TMC4, TMED1, TMEM143, TMEM145, TMEM147, TMEM150B, TMEM160, TMEM161A, TMEM190, TMEM205, TMEM221, TMEM238, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TNNI3, TNNT1, TNPO2, TOMM40, TPGS1, TPM4, TPRX1, TRAPPC5, TRAPPC6A, TRIM28, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TSKS, TSPAN16, TSSK6, TTC9B, TTYH1, TUBB4A, TULP2, TYK2, TYROBP, U2AF1L4, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBL5, UBXN6, UCA1, UHRF1, UNC13A, UPF1, UPK1A, UQCR11, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VASP, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR83, WDR83OS, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, YJEFN3, YJU2, YJU2B, ZBTB32, ZBTB45, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZFP82, ZFR2, ZGLP1, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF114, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF181, ZNF20, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF333, ZNF345, ZNF347, ZNF350, ZNF358, ZNF382, ZNF383, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF420 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr19:68029-59110290
| IGFL2, IGFL3, IGFL4, IGFLR1, IGLON5, IGSF23, IL11, IL12RB1, IL27RA, IL4I1, ILF3, ILVBL, INAFM1, INSL3, INSR, IQCN, IRF2BP1, IRF3, IRGC, IRGQ, ISOC2, ISYNA1, ITPKC, IZUMO1, IZUMO2, IZUMO4, JAK3, JOSD2, JSRP1, JUNB, JUND, KANK2, KANK3, KASH5, KCNA7, KCNC3, KCNJ14, KCNK6, KCNN1, KCNN4, KCTD15, KDELR1, KDM4B, KEAP1, KHSRP, KIRREL2, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KISS1R, KLC3, KLF1, KLF16, KLF2, KLHL26, KLK1, KLK10, KLK11, KLK12, KLK13, KLK14, KLK15, KLK2, KLK3, KLK4, KLK5, KLK6, KLK7, KLK8, KLK9, KMT2B, KMT5C, KPTN, KRI1, KRTDAP, KXD1, LAIR1, LAIR2, LDLR, LENG1, LENG8, LENG9, LEUTX, LGALS13, LGALS14, LGALS16, LGALS4, LGALS7, LGALS7B, LGI4, LHB, LIG1, LILRA1, LILRA2, LILRA3, LILRA4, LILRA5, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIM2, LIN37, LIN7B, LINGO3, LIPE, LMNB2, LMTK3, LONP1, LPAR2, LRFN1, LRFN3, LRG1, LRP3, LRRC25, LRRC4B, LRRC8E, LSM14A, LSM4, LSM7, LSR, LTBP4, LYL1, LYPD3, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP2K7, MAP3K10, MAP4K1, MARCHF2, MARK4, MAST1, MAST3, MATK, MAU2, MBD3, MBD3L1, MBD3L2, MBD3L3, MBD3L4, MBD3L5, MBOAT7, MCEMP1, MCOLN1, MED16, MED25, MED26, MED29, MEF2B, MEGF8, MEIS3, MEX3D, MFSD12, MIA, MICOS13, MIDN, MIER2, MIR125A, MIR150, MIR181C, MIR1909, MIR199A1, MIR23A, MIR24-2, MIR27A, MIR371A, MIR372, MIR373, MIR519D, MIR520H, MIR99B, MIRLET7E, MISP, MKNK2, MLLT1, MOB3A, MPND, MPV17L2, MRI1, MRPL34, MRPL4, MRPL54, MRPS12, MUC16, MVB12A, MYADM, MYBPC2, MYDGF, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NACC1, NANOS2, NANOS3, NAPA, NAPSA, NAT14, NCAN, NCCRP1, NCLN, NCR1, NDUFA11, NDUFA13, NDUFA3, NDUFA7, NDUFB7, NDUFS7, NECTIN2, NFIC, NFIX, NFKBIB, NFKBID, NIBAN3, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NOSIP, NOTCH3, NLRP7, NLRP8, NLRP9, NMRK2, NOP53, NOVA2, NPAS1, NPHS1, NR1H2, NR2C2AP, NR2F6, NRTN, NTF4, NTN5, NUCB1, NUDT19, NUMBL, NUP62, NWD1, NXNL1, OAZ1, OCEL1, ODAD1, ODAD3, OLFM2, ONECUT3, OPA3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR1M1, OR2Z1, OR4F17, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, OSCAR, OVOL3, P2RY11, PAF1, PAFAH1B3, PAK4, PALM, PALM3, PBX4, PCP2, PCSK4, PDCD2L, PDCD5, PDE4A, PDE4C, PEAK3, PEG3, PEPD, PET100, PEX11G, PGLS, PGLS-DT, PGLYRP1, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIN1, PINLYP, PIP5K1C, PKN1, PLA2G4C, PLAUR, PLD3, PLEKHA4, PLEKHF1, PLEKHG2, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, PLVAP, PNKP, PNMA8A, PNMA8B, PNPLA6, PODNL1, POLD1, POLR1G, POLR2E, POLR2I, POLRMT, POP4, POU2F2, PPAN, PPAN-P2RY11, PPFIA3, PPM1N, PPP1R12C, PPP1R13L, PPP1R14A, PPP1R15A, PPP1R37, PPP2R1A, PPP5C, PPP5D1, PPP6R1, PRAM1, PRDX2, PRG1, PRKACA, PRKCG, PRKCSH, PRKD2, PRMT1, PRODH2, PROSER3, PRSS57, PRPF31, PRR12, PRR19, PRR22, PRRG2, PRTN3, PRX, PSENEN, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSMC4, PSMD8, PSPN, PTBP1, PTGER1, PTGIR, PTH2, PTOV1, PTOV1-AS2, PTPRH, PTPRS, PVR, PWWP3A, QPCTL, QTRT1, R3HDM4, RAB11B, RAB3A, RAB3D, RAB4B, RAB8A, RABAC1, RAD23A, RANBP3, RASAL3, RASGRP4, RASIP1, RAVER1, RAX2, RBM42, RCN3, RDH13, RDH8, REEP6, RELB, RETN, REX1BD, REXO1, RFPL4A, RFPL4AL1, RFX1, RFX2, RFXANK, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNASEH2A, RNF126, RPL13A, RPL18, RPL18A, RPL28, RPL36, RPS11, RPS15, RPS16, RPS19, RPS28, RPS5, RPS9, RRAS, RSPH6A, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR4, S1PR5, SAE1, SAFB, SAFB2, SAMD1, SAMD4B, SARS2, SAXO5, SBK2, SBNO2, SBSN, SCAF1, SCAMP4, SCGB2B2, SCN1B, SDHAF1, SELENOV, SELENOW, SEMA6B, SERTAD1, SERTAD3, SF3A2, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHFL, SHISA7, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC14, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIGLECL1, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC17A7, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC25A42, SLC27A1, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC5A5, SLC6A16, SLC7A10, SLC7A9, SLC8A2, SMARCA4, SMG9, SMIM17, SMIM24, SMIM7, SNAPC2, SNRNP70, SNRPA, SNRPD2, SPACA4, SPC24, SPHK2, SPIB, SPINT2, SPMAP2, SPPL2B, SPRED3, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STK11, STRN4, STX10, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, SYCE2, SYCN, SYDE1, SYMPK, SYNE4, SYNGR4, SYT3, SYT5, TDRD12, TARM1, TBC1D17, TBCB, TBXA2R, TCF3, TEAD2, TECR, TEKTIP1, TEKTL1, TEX101, TICAM1, TFPT, TGFB1, TGFBR3L, THAP8, THOP1, TIMM13, TIMM29, TIMM44, TIMM50, TINCR, TJP3, TLE2, TLE5, TLE6, TM6SF2, TMC4, TMED1, TMEM143, TMEM145, TMEM147, TMEM150B, TMEM160, TMEM161A, TMEM190, TMEM205, TMEM221, TMEM238, TMEM259, TMEM38A, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TNNI3, TNNT1, TNPO2, TOMM40, TPGS1, TPM4, TPRX1, TRAPPC5, TRAPPC6A, TRIM28, TRIP10, TRIR, TRMT1, TRPM4, TRU-TCA1-1, TSEN34, TSHZ3, TSKS, TSPAN16, TSSK6, TTC9B, TTYH1, TUBB4A, TULP2, TYK2, TYROBP, U2AF1L4, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBL5, UBXN6, UCA1, UHRF1, UNC13A, UPF1, UPK1A, UQCR11, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VASP, VAV1, VMAC, VN1R1, VN1R2, VN1R4, VRK3, VSIG10L, WDR83OS, VSTM1, VSTM2B, WDR18, WDR62, WDR83, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, YIF1B, YIPF2, YJEFN3, YJU2, YJU2B, ZBTB32, ZBTB45, ZBTB7A, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP36, ZFP82, ZFR2, ZGLP1, ZIK1, ZIM2, ZIM2-AS1, ZIM3, ZNF100, ZNF101, ZNF112, ZNF114, ZNF121, ZNF132, ZNF134, ZNF135, ZNF136, ZNF14, ZNF146, ZNF154, ZNF155, ZNF160, ZNF17, ZNF175, ZNF177, ZNF180, ZNF181, ZNF20, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF225, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF296, ZNF30, ZNF302, ZNF304, ZNF317, ZNF320, ZNF324, ZNF324B, ZNF329, ZNF331, ZNF333, ZNF345, ZNF347, ZNF350, ZNF358, ZNF382, ZNF383, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF418, ZNF419, ZNF420, ZNF426, ZNF428, ZNF429, ZNF43, ZNF430, ZNF431, ZNF432, ZNF433, ZNF439, ZNF44, ZNF440, ZNF441, ZNF442, ZNF443, ZNF444, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF473, ZNF480, ZNF486, ZNF490, ZNF491, ZNF492, ZNF493, ZNF497, ZNF506, ZNF507, ZNF524, ZNF526, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF541, ZNF543, ZNF544, ZNF546, ZNF547, ZNF548, ZNF549, ZNF550, ZNF551, ZNF552, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF562, ZNF563, ZNF564, ZNF565, ZNF566, ZNF567, ZNF568, ZNF569, ZNF570, ZNF571, ZNF573, ZNF574, ZNF575, ZNF576, ZNF577, ZNF578, ZNF579, ZNF580, ZNF581, ZNF582, ZNF583, ZNF584, ZNF585A, ZNF585B, ZNF586, ZNF587, ZNF587B, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF611, ZNF613, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF649, ZNF653, ZNF665, ZNF667, ZNF671, ZNF675, ZNF676, ZNF677, ZNF681, ZNF682, ZNF69, ZNF699, ZNF700, ZNF701, ZNF708, ZNF709, ZNF71, ZNF714, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF749, ZNF761, ZNF763, ZNF765, ZNF766, ZNF77, ZNF772, ZNF773, ZNF776, ZNF780A, ZNF780B, ZNF781, ZNF784, ZNF787, ZNF790, ZNF791, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF813, ZNF814, ZNF816, ZNF816-ZNF321P, ZNF823, ZNF829, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF85, ZNF850, ZNF865, ZNF875, ZNF878, ZNF880, ZNF888, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN22, ZSCAN4, ZSCAN5A, ZSCAN5B, ZSWIM4, ZSWIM9, A1BG, ABCA7, ABHD17A, ABHD8, ACER1, ACP4, ACP5, ACP7, ACSBG2, ACTL9, ACTM |