| - 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:
- Chr19:14085489-28330584
- GRCh38:
- Chr19:13974677-27839676
| LOC130063908, LOC130063909, LOC130063910, LOC130063911, LOC130063912, LOC130063913, LOC130063914, LOC130063915, LOC130063916, LOC130063917, LOC130063918, LOC130063919, LOC130063920, LOC130063921, LOC130063922, LOC130063923, LOC130063924, LOC130063925, LOC130063926, LOC130063927, LOC130063928, LOC130063929, LOC130063930, LOC130063931, LOC130063932, LOC130063933, LOC130063934, LOC130063935, LOC130063936, LOC130063937, LOC130063938, LOC130063939, LOC130063940, LOC130063941, LOC130063942, LOC130063943, LOC130063944, LOC130063945, LOC130063946, LOC130063947, LOC130063948, LOC130063949, LOC130063950, LOC130063951, LOC130063952, LOC130063953, LOC130063954, LOC130063955, LOC130063956, LOC130063957, LOC130063958, LOC130063959, LOC130063960, LOC130063961, LOC130063962, LOC130063963, LOC130063964, LOC130063965, LOC130063966, LOC130063967, LOC130063968, LOC130063969, LOC130063970, LOC130063971, LOC130063972, LOC130063973, LOC130063974, LOC130063975, LOC130063976, LOC130063977, LOC130063978, LOC130063979, LOC130063980, LOC130063981, LOC130063982, LOC130063983, LOC130063984, LOC130063985, LOC130063986, LOC130063987, LOC130063988, LOC130063989, LOC130063990, LOC130063991, LOC130063992, LOC130063993, LOC130063994, LOC130063995, LOC130063996, LOC130063997, LOC130063998, LOC130063999, LOC130064000, LOC130064001, LOC130064002, LOC130064003, LOC130064004, LOC130064005, LOC130064006, LOC130064007, LOC130064008, LOC130064009, LOC130064010, LOC130064011, LOC130064012, LOC130064013, LOC130064014, LOC130064015, LOC130064016, LOC130064017, LOC130064018, LOC130064019, LOC130064020, LOC130064021, LOC130064022, LOC130064023, LOC130064024, LOC130064025, LOC130064026, LOC130064027, LOC130064028, LOC130064029, LOC130064030, LOC130064031, LOC130064032, LOC130064033, LOC130064034, LOC130064035, LOC130064036, LOC130064037, LOC130064038, LOC130064039, LOC130064040, LOC130064041, LOC130064042, LOC130064043, LOC130064044, LOC130064045, LOC130064046, LOC130064047, LOC130064048, LOC130064049, LOC130064050, LOC130064051, LOC130064052, LOC130064053, LOC130064054, LOC130064055, LOC130064056, LOC130064057, LOC130064058, LOC130064059, LOC130064060, LOC130064061, LOC130064062, LOC130064063, LOC130064064, LOC130064065, LOC130064066, LOC130064067, LOC130064068, LOC130064069, LOC130064070, LOC130064071, LOC130064072, LOC130064073, LOC130064074, LOC130064075, LOC130064076, LOC130064077, LOC130064078, LOC130064079, LOC130064080, LOC130064081, LOC130064082, LOC130064083, LOC130064084, LOC130064085, LOC130064086, LOC130064087, LOC130064088, LOC130064089, LOC130064090, LOC130064091, LOC130064092, LOC130064093, LOC130064094, LOC130064095, LOC130064096, LOC130064097, LOC130064098, LOC130064099, LOC130064100, LOC130064101, LOC130064102, LOC130064103, LOC130064104, LOC130064105, LOC130064106, LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LOC130064113, LPAR2, LRRC25, LSM4, MAP1S, MAST3, MAU2, MED26, MEF2B, MIR1199, MIR1270, MIR1470, MIR3188, MIR3189, MIR639, MIR640, MIR6795, MISP3, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NDUFB7, NIBAN3, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PALM3, PBX4, PDE4C, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PIK3R2, PKN1, PLVAP, PRKACA, PTGER1, RAB3A, RAB8A, RASAL3, REX1BD, RFX1, RFXANK, RLN3, RPL18A, RPSA2, SAMD1, SIN3B, SLC1A6, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM46, SMIM7, SNORA104, SNORA118, SNORA68, SSBP4, SUGP1, SUGP2, SYDE1, TECR, TEKTL1, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TPM4, TSSK6, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, USE1, USHBP1, WIZ, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF208, ZNF253, ZNF254, ZNF257, ZNF333, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ABHD8, ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2, ASF1B, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BRD4, BST2, C19orf44, C19orf67, CALR3, CASP14, CCDC124, CCDC194, CERS1, CHERP, CIB3, CILP2, CIST1, CLEC17A, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDA1, DDX39A, DDX49, DNAJB1, ELL, EPHX3, EPS15L1, ERVK-19, ERVS71-1, F2RL3, FAM32A, FCHO1, FKBP8, GATAD2A, GDF1, GDF15, GIPC1, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOMER3-AS1, HSH2D, IFI30, IL12RB1, IL27RA, ILVBL, ILVBL-AS1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLF2, KLF2-DT, KLHL26, KXD1, LINC00661, LINC00662, LINC00663, LINC00664, LINC00905, LINC01224, LINC01233, LINC01785, LINC01841, LINC01842, LINC01855, LINC01858, LINC01859, LINC02987, LINC03085, LOC100505851, LOC101929124, LOC102725254, LOC105372321, LOC105376917, LOC106783503, LOC112543461, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC113939968, LOC116276505, LOC116276506, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC125371482, LOC125371483, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC128854698, LOC129391071, LOC129391072, LOC129391073, LOC129391074, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, 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, LOC130063878, LOC130063879, LOC130063880, LOC130063881, LOC130063882, LOC130063883, LOC130063884, LOC130063885, LOC130063886, LOC130063887, LOC130063888, LOC130063889, LOC130063890, LOC130063891, LOC130063892, LOC130063893, LOC130063894, LOC130063895, LOC130063896, LOC130063897, LOC130063898, LOC130063899, LOC130063900, LOC130063901, LOC130063902, LOC130063903, LOC130063904, LOC130063905, LOC130063906, LOC130063907 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15244405-24376393
- GRCh38:
- Chr19:15133594-24193591
| LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LPAR2, LRRC25, LSM4, MAP1S, MAST3, MAU2, MED26, MEF2B, MIR1270, MIR1470, MIR3188, MIR3189, MIR640, MIR6795, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NIBAN3, NOTCH3, NR2C2AP, NR2F6, NWD1, NXNL1, OCEL1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, PBX4, PDE4C, PGLS, PGLS-DT, PGLYRP2, PGPEP1, PIK3R2, PLVAP, RAB3A, RAB8A, RASAL3, REX1BD, RFXANK, RPL18A, RPSA2, SIN3B, SLC25A42, SLC27A1, SLC35E1, SLC5A5, SMIM7, SNORA118, SNORA68, SSBP4, SUGP1, SUGP2, TM6SF2, TMEM161A, TMEM221, TMEM38A, TMEM59L, TPM4, TSSK6, UBA52, UCA1, UCA1-AS1, UNC13A, UPF1, USE1, USHBP1, WIZ, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF208, ZNF253, ZNF254, ZNF257, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99, ABHD8, AKAP8, AKAP8L, ANKLE1, ANO8, AP1M1, ARMC6, ARRDC2, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BRD4, BST2, C19orf44, CALR3, CCDC124, CCDC194, CERS1, CHERP, CIB3, CILP2, CIST1, COLGALT1, COMP, COPE, CPAMD8, CRLF1, CRTC1, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDA1, DDX49, ELL, EPHX3, EPS15L1, ERVS71-1, F2RL3, FAM32A, FCHO1, FKBP8, GATAD2A, GDF1, GDF15, GMIP, GTPBP3, HAPLN4, HAUS8, HOMER3, HOMER3-AS1, HSH2D, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KLF2, KLF2-DT, KLHL26, KXD1, LINC00661, LINC00663, LINC00664, LINC00905, LINC01224, LINC01233, LINC01785, LINC01855, LINC01858, LINC01859, LINC03085, LOC100505851, LOC101929124, LOC102725254, LOC105372321, LOC105376917, LOC106783503, LOC112543462, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627859, LOC121627860, LOC121627861, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121852982, LOC121852983, LOC121852984, LOC121852985, LOC125371486, LOC125371487, LOC125371488, LOC125371489, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC128854698, LOC129391075, LOC129391076, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, 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, LOC130063878, LOC130063879, LOC130063880, LOC130063881, LOC130063882, LOC130063883, LOC130063884, LOC130063885, LOC130063886, LOC130063887, LOC130063888, LOC130063889, LOC130063890, LOC130063891, LOC130063892, LOC130063893, LOC130063894, LOC130063895, LOC130063896, LOC130063897, LOC130063898, LOC130063899, LOC130063900, LOC130063901, LOC130063902, LOC130063903, LOC130063904, LOC130063905, LOC130063906, LOC130063907, LOC130063908, LOC130063909, LOC130063910, LOC130063911, LOC130063912, LOC130063913, LOC130063914, LOC130063915, LOC130063916, LOC130063917, LOC130063918, LOC130063919, LOC130063920, LOC130063921, LOC130063922, LOC130063923, LOC130063924, LOC130063925, LOC130063926, LOC130063927, LOC130063928, LOC130063929, LOC130063930, LOC130063931, LOC130063932, LOC130063933, LOC130063934, LOC130063935, LOC130063936, LOC130063937, LOC130063938, LOC130063939, LOC130063940, LOC130063941, LOC130063942, LOC130063943, LOC130063944, LOC130063945, LOC130063946, LOC130063947, LOC130063948, LOC130063949, LOC130063950, LOC130063951, LOC130063952, LOC130063953, LOC130063954, LOC130063955, LOC130063956, LOC130063957, LOC130063958, LOC130063959, LOC130063960, LOC130063961, LOC130063962, LOC130063963, LOC130063964, LOC130063965, LOC130063966, LOC130063967, LOC130063968, LOC130063969, LOC130063970, LOC130063971, LOC130063972, LOC130063973, LOC130063974, LOC130063975, LOC130063976, LOC130063977, LOC130063978, LOC130063979, LOC130063980, LOC130063981, LOC130063982, LOC130063983, LOC130063984, LOC130063985, LOC130063986, LOC130063987, LOC130063988, LOC130063989, LOC130063990, LOC130063991, LOC130063992, LOC130063993, LOC130063994, LOC130063995, LOC130063996, LOC130063997, LOC130063998, LOC130063999, LOC130064000, LOC130064001, LOC130064002, LOC130064003, LOC130064004, LOC130064005, LOC130064006, LOC130064007, LOC130064008, LOC130064009, LOC130064010, LOC130064011, LOC130064012, LOC130064013, LOC130064014, LOC130064015, LOC130064016, LOC130064017, LOC130064018, LOC130064019, LOC130064020, LOC130064021, LOC130064022, LOC130064023, LOC130064024, LOC130064025, LOC130064026, LOC130064027, LOC130064028, LOC130064029, LOC130064030, LOC130064031, LOC130064032, LOC130064033, LOC130064034, LOC130064035, LOC130064036, LOC130064037, LOC130064038, LOC130064039, LOC130064040, LOC130064041, LOC130064042, LOC130064043, LOC130064044, LOC130064045, LOC130064046, LOC130064047, LOC130064048, LOC130064049, LOC130064050, LOC130064051, LOC130064052, LOC130064053, LOC130064054, LOC130064055, LOC130064056, LOC130064057, LOC130064058, LOC130064059, LOC130064060, LOC130064061, LOC130064062, LOC130064063, LOC130064064, LOC130064065, LOC130064066, LOC130064067, LOC130064068, LOC130064069, LOC130064070, LOC130064071, LOC130064072, LOC130064073, LOC130064074, LOC130064075, LOC130064076, LOC130064077, LOC130064078, LOC130064079, LOC130064080, LOC130064081, LOC130064082, LOC130064083, LOC130064084, LOC130064085, LOC130064086, LOC130064087, LOC130064088, LOC130064089, LOC130064090, LOC130064091, LOC130064092, LOC130064093, LOC130064094, LOC130064095, LOC130064096, LOC130064097, LOC130064098, LOC130064099, LOC130064100, LOC130064101, LOC130064102, LOC130064103, LOC130064104, LOC130064105, LOC130064106 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr19:17287576-35415054
- GRCh38:
- Chr19:17176767-34924150
| ABHD8, ANKLE1, ANKRD27, ANO8, ARMC6, ARRDC2, ATP13A1, B3GNT3, BABAM1, BISPR, BORCS8, BORCS8-MEF2B, BST2, C19orf12, CCDC124, CCDC194, CCNE1, CEBPA, CEBPA-DT, CEBPG, CEP89, CERS1, CHST8, CILP2, CIST1, COLGALT1, COMP, COPE, CRLF1, CRTC1, DDA1, DDX49, DPY19L3, DPY19L3-DT, ELL, ERVK-19, ERVS71-1, FAAP24, FCHO1, FKBP8, GARRE1, GATAD2A, GDF1, GDF15, GMIP, GPATCH1, GPI, GTPBP3, HAPLN4, HOMER3, HOMER3-AS1, IFI30, IL12RB1, INSL3, IQCN, ISYNA1, JAK3, JUND, KCNN1, KCTD15, KLHL26, KXD1, LINC00662, LINC00663, LINC00664, LINC00904, LINC00906, LINC01224, LINC01233, LINC01532, LINC01533, LINC01782, LINC01785, LINC01791, LINC01801, LINC01834, LINC01838, LINC01858, LINC01859, LINC02841, LINC02965, LINC02987, LINC03049, LINC03085, LINC03103, LOC100505851, LOC101929124, LOC102724908, LOC102724958, LOC102725254, LOC105372321, LOC105376917, LOC106783503, LOC110120869, LOC110120870, LOC110120871, LOC110120872, LOC110120873, LOC110120875, LOC110120890, LOC110120927, LOC110120942, LOC111365153, LOC111413028, LOC112543463, LOC112543464, LOC112543465, LOC112543466, LOC112543467, LOC112543468, LOC112543469, LOC112543470, LOC112543471, LOC112543472, LOC112543473, LOC112543479, LOC112543483, LOC112543484, LOC113939969, LOC116276507, LOC116276508, LOC116276509, LOC116276510, LOC116276511, LOC116276512, LOC121627862, LOC121627863, LOC121627864, LOC121627865, LOC121627866, LOC121627867, LOC121627868, LOC121627869, LOC121627870, LOC121852983, LOC121852984, LOC121852985, LOC121852986, LOC125371491, LOC125371492, LOC125371493, LOC125371494, LOC125371495, LOC125371496, LOC125371497, LOC125371498, LOC125371499, LOC125371500, LOC125371501, LOC125371502, LOC125371503, LOC125371504, LOC125371505, LOC125371506, LOC125371507, LOC126862875, LOC126862876, LOC126862877, LOC126862878, LOC126862879, LOC126862880, LOC126862881, LOC126862882, LOC126862883, LOC126862884, LOC126862885, LOC126862886, LOC126862887, LOC126862888, LOC126862889, LOC126862890, LOC126862891, LOC126862892, LOC126862893, LOC126862894, LOC126862895, LOC129391077, LOC129391078, LOC129391079, LOC129391080, LOC129391081, LOC129391082, LOC129391083, LOC129391084, LOC129391085, LOC129391086, LOC129391087, LOC129391088, LOC129391089, LOC129391090, LOC129391091, LOC129391092, LOC129391093, LOC129391094, LOC130063912, LOC130063913, LOC130063914, LOC130063915, LOC130063916, LOC130063917, LOC130063918, LOC130063919, LOC130063920, LOC130063921, LOC130063922, LOC130063923, LOC130063924, LOC130063925, LOC130063926, LOC130063927, LOC130063928, LOC130063929, LOC130063930, LOC130063931, LOC130063932, LOC130063933, LOC130063934, LOC130063935, LOC130063936, LOC130063937, LOC130063938, LOC130063939, LOC130063940, LOC130063941, LOC130063942, LOC130063943, LOC130063944, LOC130063945, LOC130063946, LOC130063947, LOC130063948, LOC130063949, LOC130063950, LOC130063951, LOC130063952, LOC130063953, LOC130063954, LOC130063955, LOC130063956, LOC130063957, LOC130063958, LOC130063959, LOC130063960, LOC130063961, LOC130063962, LOC130063963, LOC130063964, LOC130063965, LOC130063966, LOC130063967, LOC130063968, LOC130063969, LOC130063970, LOC130063971, LOC130063972, LOC130063973, LOC130063974, LOC130063975, LOC130063976, LOC130063977, LOC130063978, LOC130063979, LOC130063980, LOC130063981, LOC130063982, LOC130063983, LOC130063984, LOC130063985, LOC130063986, LOC130063987, LOC130063988, LOC130063989, LOC130063990, LOC130063991, LOC130063992, LOC130063993, LOC130063994, LOC130063995, LOC130063996, LOC130063997, LOC130063998, LOC130063999, LOC130064000, LOC130064001, LOC130064002, LOC130064003, LOC130064004, LOC130064005, LOC130064006, LOC130064007, LOC130064008, LOC130064009, LOC130064010, LOC130064011, LOC130064012, LOC130064013, LOC130064014, LOC130064015, LOC130064016, LOC130064017, LOC130064018, LOC130064019, LOC130064020, LOC130064021, LOC130064022, LOC130064023, LOC130064024, LOC130064025, LOC130064026, LOC130064027, LOC130064028, LOC130064029, LOC130064030, LOC130064031, LOC130064032, LOC130064033, LOC130064034, LOC130064035, LOC130064036, LOC130064037, LOC130064038, LOC130064039, LOC130064040, LOC130064041, LOC130064042, LOC130064043, LOC130064044, LOC130064045, LOC130064046, LOC130064047, LOC130064048, LOC130064049, LOC130064050, LOC130064051, LOC130064052, LOC130064053, LOC130064054, LOC130064055, LOC130064056, LOC130064057, LOC130064058, LOC130064059, LOC130064060, LOC130064061, LOC130064062, LOC130064063, LOC130064064, LOC130064065, LOC130064066, LOC130064067, LOC130064068, LOC130064069, LOC130064070, LOC130064071, LOC130064072, LOC130064073, LOC130064074, LOC130064075, LOC130064076, LOC130064077, LOC130064078, LOC130064079, LOC130064080, LOC130064081, LOC130064082, LOC130064083, LOC130064084, LOC130064085, LOC130064086, LOC130064087, LOC130064088, LOC130064089, LOC130064090, LOC130064091, LOC130064092, LOC130064093, LOC130064094, LOC130064095, LOC130064096, LOC130064097, LOC130064098, LOC130064099, LOC130064100, LOC130064101, LOC130064102, LOC130064103, LOC130064104, LOC130064105, LOC130064106, LOC130064107, LOC130064108, LOC130064109, LOC130064110, LOC130064111, LOC130064112, LOC130064113, LOC130064114, LOC130064115, LOC130064116, LOC130064117, LOC130064118, LOC130064119, LOC130064120, LOC130064121, LOC130064122, LOC130064123, LOC130064124, LOC130064125, LOC130064126, LOC130064127, LOC130064128, LOC130064129, LOC130064130, LOC130064131, LOC130064132, LOC130064133, LOC130064134, LOC130064135, LOC130064136, LOC130064137, LOC130064138, LOC130064139, LOC130064140, LOC130064141, LOC130064142, LOC130064143, LOC130064144, LOC130064145, LOC130064146, LOC130064147, LOC130064148, LOC130064149, LOC130064150, LOC130064151, LOC130064152, LOC130064153, LOC130064154, LOC130064155, LOC130064156, LOC130064157, LOC130064158, LOC130064159, LOC130064160, LOC130064161, LOC130064162, LOC130064163, LOC130064164, LOC130064165, LOC130064166, LOC130064167, LOC130064168, LOC130064169, LOC130064170, LOC130064171, LOC130064172, LOC130064173, LOC130064174, LOC130064175, LOC130064176, LOC130064177, LOC130064178, LOC130064179, LOC130064180, LOC130064181, LOC130064182, LOC130064183, LOC130064184, LOC130064185, LOC130064186, LOC130064187, LOC130064188, LOC130064189, LOC130064190, LOC130064191, LOC130064192, LOC130064193, LOC130064194, LOC130064195, LOC130064196, LOC130064197, LOC130064198, LOC132090533, LOC132090534, LOC132090535, LOC132090536, LOC132090537, LOC132090538, LOC132090539, LOC132090540, LOC132090541, LOC132090542, LOC132090543, LOC132090544, LOC132090545, LOC132090546, LOC132090547, LOC132090548, LOC132090549, LOC132090904, LOC132090905, LOC132090906, LOC132090907, LOC132090908, LOC132090909, LPAR2, LRP3, LRRC25, LSM14A, LSM4, MAP1S, MAST3, MAU2, MEF2B, MIR1270, MIR3188, MIR3189, MIR640, MPV17L2, MRPL34, MVB12A, MYO9B, NCAN, NDUFA13, NIBAN3, NR2C2AP, NR2F6, NUDT19, NUDT19-DT, NXNL1, OCEL1, PBX4, PDCD2L, PDCD5, PDE4C, PEPD, PGLS, PGLS-DT, PGPEP1, PIK3R2, PLEKHF1, PLVAP, POP4, RAB3A, REX1BD, RFXANK, RGS9BP, RHPN2, RPL18A, RPSA2, SCGB2B2, SLC25A42, SLC27A1, SLC5A5, SLC7A10, SLC7A9, SNORA68, SNORA68B, SSBP4, SUGP1, SUGP2, SUNO1, TDRD12, TM6SF2, TMEM161A, TMEM221, TMEM59L, TRT-AGT1-3, TSHZ3, TSSK6, UBA2, UBA52, UNC13A, UPF1, UQCRFS1, UQCRFS1-DT, URI1, USE1, USHBP1, VSTM2B, VSTM2B-DT, WDR88, WTIP, YJEFN3, ZNF100, ZNF101, ZNF14, ZNF181, ZNF208, ZNF253, ZNF254, ZNF257, ZNF30, ZNF30-AS1, ZNF302, ZNF429, ZNF43, ZNF430, ZNF431, ZNF486, ZNF492, ZNF493, ZNF506, ZNF507, ZNF536, ZNF599, ZNF626, ZNF66, ZNF675, ZNF676, ZNF681, ZNF682, ZNF708, ZNF714, ZNF723, ZNF724, ZNF726, ZNF728, ZNF729, ZNF730, ZNF737, ZNF738, ZNF85, ZNF90, ZNF91, ZNF93, ZNF98, ZNF99 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979421
- GRCh38:
- Chr19:18868612
| CERS1, GDF1 | | not provided | Likely benign (Sep 6, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979423
- GRCh38:
- Chr19:18868614
| CERS1, GDF1 | E368K | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979429
- GRCh38:
- Chr19:18868620
| CERS1, GDF1 | V366L | Inborn genetic diseases | Uncertain significance (Dec 8, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979430
- GRCh38:
- Chr19:18868621
| CERS1, GDF1 | | not provided | Likely benign (Aug 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979433
- GRCh38:
- Chr19:18868624
| CERS1, GDF1 | M364I | not provided | Likely pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979433-18979435
- GRCh38:
- Chr19:18868624-18868626
| CERS1, GDF1 | M364del | Right atrial isomerism | Pathogenic (Apr 18, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr19:18979434
- GRCh38:
- Chr19:18868625
| CERS1, GDF1 | M364T | Progressive myoclonic epilepsy type 8, not provided | Pathogenic/Likely pathogenic (Jun 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979450
- GRCh38:
- Chr19:18868641
| CERS1, GDF1 | R359W | not provided | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979473-18979474
- GRCh38:
- Chr19:18868664-18868665
| CERS1, GDF1 | | not provided | Uncertain significance (Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979475-18979478
- GRCh38:
- Chr19:18868666-18868669
| GDF1, CERS1 | F349fs | not provided, Congenital heart defects, multiple types, 6 | Pathogenic/Likely pathogenic (Jan 25, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979476-18979478
- GRCh38:
- Chr19:18868667-18868669
| CERS1, GDF1 | F350del | Visceral heterotaxy, Progressive myoclonic epilepsy type 8 | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979484
- GRCh38:
- Chr19:18868675
| CERS1, GDF1 | | not provided | Likely benign (May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979487
- GRCh38:
- Chr19:18868678
| CERS1, GDF1 | | not provided | Likely benign (Apr 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979495
- GRCh38:
- Chr19:18868686
| CERS1, GDF1 | P344S | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979496
- GRCh38:
- Chr19:18868687
| CERS1, GDF1 | | Progressive myoclonic epilepsy type 8 | Likely benign (Jul 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979497
- GRCh38:
- Chr19:18868688
| CERS1, GDF1 | S343W | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979506
- GRCh38:
- Chr19:18868697
| CERS1, GDF1 | A340G | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979509
- GRCh38:
- Chr19:18868700
| CERS1, GDF1 | P339L | Inborn genetic diseases | Uncertain significance (Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979509
- GRCh38:
- Chr19:18868700
| CERS1, GDF1 | P339H | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979524
- GRCh38:
- Chr19:18868715
| CERS1, GDF1 | L334R | Inborn genetic diseases | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979528
- GRCh38:
- Chr19:18868719
| GDF1, CERS1 | D333N | Congenital heart defects, multiple types, 6 | Uncertain significance (Sep 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979538
- GRCh38:
- Chr19:18868729
| CERS1, GDF1 | | not provided | Likely benign (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979540
- GRCh38:
- Chr19:18868731
| GDF1, CERS1 | P329S | not provided, GDF1-related condition, Inborn genetic diseases
| Uncertain significance (May 24, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979548
- GRCh38:
- Chr19:18868739
| GDF1, CERS1 | A326G | Inborn genetic diseases | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979573
- GRCh38:
- Chr19:18868764
| CERS1, GDF1 | A318T | not provided | Likely pathogenic (Feb 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979591
- GRCh38:
- Chr19:18868782
| CERS1, GDF1 | P312A | GDF1-related condition | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979600
- GRCh38:
- Chr19:18868791
| CERS1, GDF1 | S309P | Progressive myoclonic epilepsy type 8, not specified, Visceral heterotaxy
| Conflicting interpretations of pathogenicity (Jul 18, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18979613
- GRCh38:
- Chr19:18868804
| GDF1, CERS1 | | not provided | Likely benign (Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979615-18979616
- GRCh38:
- Chr19:18868806-18868807
| CERS1, GDF1 | V304fs | not provided | Likely pathogenic (Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979622
- GRCh38:
- Chr19:18868813
| CERS1, GDF1 | | not provided | Likely benign (Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979625
- GRCh38:
- Chr19:18868816
| GDF1, CERS1 | | not provided | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979634
- GRCh38:
- Chr19:18868825
| CERS1, GDF1 | Q297H | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr19:18979636
- GRCh38:
- Chr19:18868827
| CERS1, GDF1 | Q297* | not provided | Pathogenic (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979642
- GRCh38:
- Chr19:18868833
| CERS1, GDF1 | Y295N | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979647
- GRCh38:
- Chr19:18868838
| CERS1, GDF1 | A293V | GDF1-related condition, Inborn genetic diseases | Uncertain significance (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979674
- GRCh38:
- Chr19:18868865
| CERS1, GDF1 | W284* | Congenital heart defects, multiple types, 6 | Likely pathogenic (Apr 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979695
- GRCh38:
- Chr19:18868886
| CERS1, GDF1 | R277H | not provided | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979711-18979738
- GRCh38:
- Chr19:18868902-18868929
| CERS1, GDF1 | P263fs | Inborn genetic diseases | Likely pathogenic (Dec 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979713
- GRCh38:
- Chr19:18868904
| CERS1, GDF1 | R271P | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979724-18979749
- GRCh38:
- Chr19:18868915-18868940
| GDF1, CERS1 | L259fs | Right atrial isomerism, not provided | Likely pathogenic (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979725
- GRCh38:
- Chr19:18868916
| CERS1, GDF1 | C267Y | GDF1-related condition | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979729
- GRCh38:
- Chr19:18868920
| CERS1, GDF1 | A266T | not specified, not provided | Uncertain significance (Aug 19, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979737
- GRCh38:
- Chr19:18868928
| CERS1, GDF1 | P263L | not provided | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979745
- GRCh38:
- Chr19:18868936
| CERS1, GDF1 | | not provided | Uncertain significance (Jul 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979753
- GRCh38:
- Chr19:18868944
| CERS1, GDF1 | V258M | Inborn genetic diseases | Uncertain significance (Apr 13, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979758
- GRCh38:
- Chr19:18868949
| CERS1, GDF1 | E256G | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979760
- GRCh38:
- Chr19:18868951
| CERS1, GDF1 | | not provided | Uncertain significance (Aug 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979764
- GRCh38:
- Chr19:18868955
| CERS1, GDF1 | D254A | Inborn genetic diseases | Uncertain significance (Nov 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979782-18979783
- GRCh38:
- Chr19:18868973-18868974
| CERS1, GDF1 | L248fs | not provided | Pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979784
- GRCh38:
- Chr19:18868975
| GDF1, CERS1 | | not provided | Likely benign (Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979787
- GRCh38:
- Chr19:18868978
| CERS1, GDF1 | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979839
- GRCh38:
- Chr19:18869030
| GDF1, CERS1 | R229P | not provided | Uncertain significance (Feb 25, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979844
- GRCh38:
- Chr19:18869035
| CERS1, GDF1 | C227* | GDF1-RELATED DISORDERS, GDF1-related condition, Right atrial isomerism, not provided, Congenital heart defects, multiple types, 6 | Pathogenic/Likely pathogenic (Sep 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979847-18979946
- GRCh38:
- Chr19:18869038-18869137
| CERS1, GDF1 | V194fs | not provided | Likely pathogenic (Aug 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979857-18979858
- GRCh38:
- Chr19:18869048-18869049
| CERS1, GDF1 | A223fs | not provided | Pathogenic (May 3, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979864
- GRCh38:
- Chr19:18869055
| GDF1, CERS1 | P221A | Inborn genetic diseases | Uncertain significance (Dec 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979867
- GRCh38:
- Chr19:18869058
| GDF1, CERS1 | R220S | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979869-18979874
- GRCh38:
- Chr19:18869060-18869065
| GDF1, CERS1 | | not provided | Uncertain significance (Dec 18, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979872
- GRCh38:
- Chr19:18869063
| CERS1, GDF1 | A218E | not provided | Uncertain significance (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979876
- GRCh38:
- Chr19:18869067
| CERS1, GDF1 | L217V | not provided, Congenital heart defects, multiple types, 6 | Uncertain significance (Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979888
- GRCh38:
- Chr19:18869079
| CERS1, GDF1 | L213F | not provided | Uncertain significance (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979899
- GRCh38:
- Chr19:18869090
| GDF1, CERS1 | W209* | not provided | Pathogenic (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979904-18979905
- GRCh38:
- Chr19:18869095-18869096
| CERS1, GDF1 | A207V | GDF1-related condition | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979917
- GRCh38:
- Chr19:18869108
| GDF1, CERS1 | W203* | Inborn genetic diseases | Likely pathogenic (Apr 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979926
- GRCh38:
- Chr19:18869117
| GDF1, CERS1 | G200D | not provided, Congenital heart defects, multiple types, 6, Right atrial isomerism
| Uncertain significance (Jul 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979929
- GRCh38:
- Chr19:18869120
| CERS1, GDF1 | L199P | not provided, Congenital heart defects, multiple types, 6, Right atrial isomerism
| Uncertain significance (Dec 15, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18979938
- GRCh38:
- Chr19:18869129
| CERS1, GDF1 | A196G | Inborn genetic diseases | Uncertain significance (Aug 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979938-18979939
- GRCh38:
- Chr19:18869129-18869130
| GDF1, CERS1 | A196fs | Visceral heterotaxy | Pathogenic (Nov 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979939
- GRCh38:
- Chr19:18869130
| CERS1, GDF1 | A196T | not provided | Uncertain significance (Nov 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979943
- GRCh38:
- Chr19:18869134
| CERS1, GDF1 | | not provided | Likely benign (May 15, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979950
- GRCh38:
- Chr19:18869141
| CERS1, GDF1 | P192L | Inborn genetic diseases | Uncertain significance (Aug 22, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979953
- GRCh38:
- Chr19:18869144
| GDF1, CERS1 | G191A | not provided | Uncertain significance (Dec 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979964
- GRCh38:
- Chr19:18869155
| CERS1, GDF1 | | not provided | Likely benign (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979976
- GRCh38:
- Chr19:18869167
| CERS1, GDF1 | | not provided | Likely benign (Sep 30, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979988
- GRCh38:
- Chr19:18869179
| CERS1, GDF1 | P180fs | Congenital heart defects, multiple types, 6 | Uncertain significance (Jul 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18979988
- GRCh38:
- Chr19:18869179
| CERS1, GDF1 | | not provided | Likely benign (Jun 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980008
- GRCh38:
- Chr19:18869199
| CERS1, GDF1 | G173S | not provided | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980021
- GRCh38:
- Chr19:18869212
| CERS1, GDF1 | | Progressive myoclonic epilepsy type 8 | Likely benign (Sep 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980040
- GRCh38:
- Chr19:18869231
| CERS1, GDF1 | G162D | Progressive myoclonic epilepsy type 8, not provided | Conflicting interpretations of pathogenicity (Jul 17, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18980049
- GRCh38:
- Chr19:18869240
| CERS1, GDF1 | P159L | not provided | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980054-18980055
- GRCh38:
- Chr19:18869245-18869246
| CERS1, GDF1 | | not specified, Visceral heterotaxy, Progressive myoclonic epilepsy type 8, not provided | Benign (Dec 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980055-18980056
- GRCh38:
- Chr19:18869246-18869247
| CERS1, GDF1 | | not provided | Benign (Mar 3, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980057
- GRCh38:
- Chr19:18869248
| GDF1, CERS1 | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980060
- GRCh38:
- Chr19:18869251
| CERS1, GDF1 | | not provided | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980067
- GRCh38:
- Chr19:18869258
| CERS1, GDF1 | A153V | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980094
- GRCh38:
- Chr19:18869285
| CERS1, GDF1 | R144Q | not provided | Uncertain significance (Feb 23, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980094
- GRCh38:
- Chr19:18869285
| GDF1, CERS1 | R144P | not provided | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980107
- GRCh38:
- Chr19:18869298
| CERS1, GDF1 | E140Q | not provided | Uncertain significance (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980113
- GRCh38:
- Chr19:18869304
| CERS1, GDF1 | P138T | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Mar 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:18980121
- GRCh38:
- Chr19:18869312
| CERS1, GDF1 | A135V | Inborn genetic diseases, Progressive myoclonic epilepsy type 8 | Uncertain significance (Dec 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980124
- GRCh38:
- Chr19:18869315
| CERS1, GDF1 | S134W | not provided | Likely pathogenic (Mar 8, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980137
- GRCh38:
- Chr19:18869328
| CERS1, GDF1 | V130I | not specified, not provided | Benign (Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:18980145
- GRCh38:
- Chr19:18869336
| CERS1, GDF1 | W127* | Congenital heart defects, multiple types, 6 | Likely pathogenic (Jun 12, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980154
- GRCh38:
- Chr19:18869345
| CERS1, GDF1 | C124F | not provided | Likely pathogenic (Feb 7, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980158
- GRCh38:
- Chr19:18869349
| CERS1, GDF1 | H123Y | not provided | Uncertain significance (Oct 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:18980159
- GRCh38:
- Chr19:18869350
| CERS1, GDF1 | | not provided | Likely benign (Mar 24, 2021) | criteria provided, single submitter |