| - 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:
- Chr19:13644739-15481900
- GRCh38:
- Chr19:13533925-15371089
| ADGRE2, ADGRE3, ADGRE5, ADGRL1, ADGRL1-AS1, AKAP8, ASF1B, BRD4, BRME1, C19orf53, C19orf67, CASP14, CC2D1A, CLEC17A, DCAF15, DDX39A, DNAJB1, EPHX3, GIPC1, IL27RA, ILVBL, ILVBL-AS1, LINC01841, LINC01842, LOC112543461, LOC113939968, LOC116276504, LOC116276505, LOC116276506, LOC121627856, LOC121627857, LOC121627858, LOC121852981, LOC125371482, LOC125371483, LOC125371484, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC129391067, LOC129391068, LOC129391069, LOC129391070, LOC129391071, LOC129391072, LOC129391073, LOC129391074, 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, MIR1199, MIR181C, MIR181D, MIR23A, MIR23AHG, MIR24-2, MIR27A, MIR639, MIR6795, MISP3, MRI1, NANOS3, NDUFB7, NOTCH3, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PALM3, PKN1, PODNL1, PRKACA, PTGER1, RFX1, RLN3, SAMD1, SLC1A6, SMIM46, SNORA104, SYDE1, TECR, TEKTL1, YJU2B, ZNF333, ZSWIM4 | | See cases | Pathogenic (Sep 16, 2011) | 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:
- Chr19:14265774-17025123
- GRCh38:
- Chr19:14154962-16914313
| ADGRL1, ADGRL1-AS1, AKAP8, AKAP8L, AP1M1, BRD4, C19orf44, CALR3, CASP14, CHERP, CIB3, CLEC17A, CPAMD8, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, DDX39A, DNAJB1, EPHX3, EPS15L1, F2RL3, FAM32A, GIPC1, HSH2D, ILVBL, ILVBL-AS1, KLF2, KLF2-DT, LINC00661, LINC00905, LINC01841, LINC01842, LINC01855, LOC112543461, LOC112543462, LOC113939968, LOC116276506, LOC121627856, LOC121627857, LOC121627858, LOC121627859, LOC121852982, LOC125371484, LOC125371486, LOC125371487, LOC125371488, LOC126862867, LOC126862868, LOC126862869, LOC126862870, LOC126862871, LOC126862872, LOC126862873, LOC126862874, LOC128854698, LOC129391072, LOC129391073, LOC129391074, LOC129391075, LOC129391076, 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, MED26, MIR1470, MIR639, MIR6795, NDUFB7, NOTCH3, NWD1, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PGLYRP2, PKN1, PTGER1, RAB8A, RASAL3, SIN3B, SLC1A6, SLC35E1, SMIM7, SNORA104, SYDE1, TECR, TEKTL1, TMEM38A, TPM4, UCA1, UCA1-AS1, WIZ, ZNF333, ADGRE2, ADGRE3, ADGRE5 | | See cases | Pathogenic (Oct 10, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr19:14517721-15521581
- GRCh38:
- Chr19:14406909-15410770
| ADGRE2, ADGRE3, ADGRE5, AKAP8, AKAP8L, BRD4, CASP14, CLEC17A, DDX39A, DNAJB1, EPHX3, GIPC1, ILVBL, ILVBL-AS1, LOC112543461, LOC112543462, LOC113939968, LOC116276506, LOC121627858, LOC126862869, LOC126862870, 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, MIR639, MIR6795, NDUFB7, NOTCH3, OR1I1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, PKN1, PTGER1, SLC1A6, SNORA104, SYDE1, TECR, TEKTL1, ZNF333 | | See cases | Uncertain significance (Dec 22, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr19:15014099-16261691
| 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, MIR1470, MIR6795, NOTCH3, OR10H1, OR10H2, OR10H3, OR10H4, OR10H5, OR1I1, PGLYRP2, RAB8A, RASAL3, SYDE1, TEKTL1, TPM4, UCA1, UCA1-AS1, WIZ, AKAP8, AKAP8L, AP1M1, BRD4, CASP14, CIB3, CYP4F11, CYP4F12, CYP4F2, CYP4F22, CYP4F3, CYP4F8, EPHX3, FAM32A, HSH2D, ILVBL, ILVBL-AS1, LINC00661, LINC00905, LINC01855, LOC112543462, LOC113939968, LOC121627859, LOC121852982, LOC125371486, LOC125371487, LOC126862871, LOC126862872, LOC126862873, LOC128854698, LOC129391075, 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 | | Chromosome 19p13.13 deletion syndrome | Pathogenic (Aug 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15222979-15302144
- GRCh38:
- Chr19:15112168-15191333
| ILVBL, ILVBL-AS1, LOC130063807, MIR6795, NOTCH3, SYDE1 | | See cases | Uncertain significance (Nov 30, 2010) | no assertion criteria provided |
| - 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:
- Chr19:15270536
- GRCh38:
- Chr19:15159725
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270583
- GRCh38:
- Chr19:15159772
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270628
- GRCh38:
- Chr19:15159817
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270636
- GRCh38:
- Chr19:15159825
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270665
- GRCh38:
- Chr19:15159854
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270756
- GRCh38:
- Chr19:15159945
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270805
- GRCh38:
- Chr19:15159994
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270817
- GRCh38:
- Chr19:15160006
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270865
- GRCh38:
- Chr19:15160054
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270910
- GRCh38:
- Chr19:15160099
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Likely benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270929
- GRCh38:
- Chr19:15160118
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15270956
- GRCh38:
- Chr19:15160145
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271010
- GRCh38:
- Chr19:15160199
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271091
- GRCh38:
- Chr19:15160280
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271103
- GRCh38:
- Chr19:15160292
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271117-15271118
- GRCh38:
- Chr19:15160306-15160307
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271135
- GRCh38:
- Chr19:15160324
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271167
- GRCh38:
- Chr19:15160356
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Oct 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271185-15271187
- GRCh38:
- Chr19:15160374-15160376
| NOTCH3 | | not provided | Likely benign (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271194
- GRCh38:
- Chr19:15160383
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271377
- GRCh38:
- Chr19:15160566
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not provided | Likely benign (Jun 22, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271388
- GRCh38:
- Chr19:15160577
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271450
- GRCh38:
- Chr19:15160639
| NOTCH3 | | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign (Mar 5, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271469
- GRCh38:
- Chr19:15160658
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not specified | Benign (Jan 13, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271470
- GRCh38:
- Chr19:15160659
| NOTCH3 | | not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign/Likely benign (Nov 7, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271511
- GRCh38:
- Chr19:15160700
| NOTCH3 | Q2310* | not provided | Uncertain significance (Aug 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271513
- GRCh38:
- Chr19:15160702
| NOTCH3 | P2309R | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Nov 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271515
- GRCh38:
- Chr19:15160704
| NOTCH3 | | not provided | Uncertain significance (Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271526
- GRCh38:
- Chr19:15160715
| NOTCH3 | T2305A | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271534
- GRCh38:
- Chr19:15160723
| NOTCH3 | Q2302R | not provided | Uncertain significance (Aug 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271589
- GRCh38:
- Chr19:15160778
| NOTCH3 | T2284S | not provided | Uncertain significance (Mar 9, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271601
- GRCh38:
- Chr19:15160790
| NOTCH3 | M2280V | not provided | Likely benign (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271626
- GRCh38:
- Chr19:15160815
| NOTCH3 | | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not specified
| Benign (Oct 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271630
- GRCh38:
- Chr19:15160819
| NOTCH3 | T2270M | not provided, Myofibromatosis, infantile, 2, not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign/Likely benign (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271637
- GRCh38:
- Chr19:15160826
| NOTCH3 | E2268K | not specified | Uncertain significance (May 17, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271638
- GRCh38:
- Chr19:15160827
| NOTCH3 | | not provided | Likely benign (May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271647
- GRCh38:
- Chr19:15160836
| NOTCH3 | | not provided | Likely benign (May 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271653
- GRCh38:
- Chr19:15160842
| NOTCH3 | | not provided | Likely benign (Nov 8, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271665
- GRCh38:
- Chr19:15160854
| NOTCH3 | | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271669
- GRCh38:
- Chr19:15160858
| NOTCH3 | S2257N | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271672
- GRCh38:
- Chr19:15160861
| NOTCH3 | A2256G | not provided | Uncertain significance (Sep 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271684
- GRCh38:
- Chr19:15160873
| NOTCH3 | P2252L | Inborn genetic diseases, not provided | Uncertain significance (Sep 16, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271686
- GRCh38:
- Chr19:15160875
| NOTCH3 | | not specified, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, not provided
| Benign (Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271692
- GRCh38:
- Chr19:15160881
| NOTCH3 | | not provided | Benign/Likely benign (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271707
- GRCh38:
- Chr19:15160896
| NOTCH3 | Y2244* | Lateral meningocele syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271709-15271734
- GRCh38:
- Chr19:15160898-15160923
| NOTCH3 | F2235fs | not provided | Uncertain significance (Feb 26, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271713
- GRCh38:
- Chr19:15160902
| NOTCH3 | | not provided | Uncertain significance (Dec 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271729
- GRCh38:
- Chr19:15160918
| NOTCH3 | R2237L | not provided | Uncertain significance (Jul 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271730
- GRCh38:
- Chr19:15160919
| NOTCH3 | R2237W | not provided | Uncertain significance (Jan 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271730
- GRCh38:
- Chr19:15160919
| NOTCH3 | R2237G | not provided, Inborn genetic diseases | Uncertain significance (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271738
- GRCh38:
- Chr19:15160927
| NOTCH3 | R2234H | not provided | Uncertain significance (Oct 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271745
- GRCh38:
- Chr19:15160934
| NOTCH3 | K2232E | not provided | Uncertain significance (Feb 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271746-15271747
- GRCh38:
- Chr19:15160935-15160936
| NOTCH3 | A2233fs | Lateral meningocele syndrome, not provided | Pathogenic (Apr 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271747
- GRCh38:
- Chr19:15160936
| NOTCH3 | P2231fs | not provided | Likely pathogenic (Feb 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271755
- GRCh38:
- Chr19:15160944
| NOTCH3 | | not provided | Likely benign (Dec 30, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271758
- GRCh38:
- Chr19:15160947
| NOTCH3 | H2227Q | Lateral meningocele syndrome, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Myofibromatosis, infantile, 2, not provided | Uncertain significance (Jul 29, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271760
- GRCh38:
- Chr19:15160949
| NOTCH3 | H2227Y | not provided | Uncertain significance (Aug 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271770-15271771
- GRCh38:
- Chr19:15160959-15160960
| NOTCH3 | A2223V | not provided | Likely benign (May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271770
- GRCh38:
- Chr19:15160959
| NOTCH3 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271771
- GRCh38:
- Chr19:15160960
| NOTCH3 | A2223V | not specified, not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271773
- GRCh38:
- Chr19:15160962
| NOTCH3 | | not provided | Benign (Apr 18, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271774
- GRCh38:
- Chr19:15160963
| NOTCH3 | P2222L | not provided | Uncertain significance (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271776
- GRCh38:
- Chr19:15160965
| NOTCH3 | Y2221* | Lateral meningocele syndrome, not provided | Pathogenic (Jun 16, 2015) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271785
- GRCh38:
- Chr19:15160974
| NOTCH3 | | not provided | Benign (Sep 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271796
- GRCh38:
- Chr19:15160985
| NOTCH3 | P2215A | Inborn genetic diseases | Uncertain significance (Feb 27, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271796
- GRCh38:
- Chr19:15160985
| NOTCH3 | P2215T | not provided | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271806
- GRCh38:
- Chr19:15160995
| NOTCH3 | Y2211* | not provided | Pathogenic (Jan 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271807
- GRCh38:
- Chr19:15160996
| NOTCH3 | Y2211C | not specified | Conflicting interpretations of pathogenicity (Jun 8, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271812
- GRCh38:
- Chr19:15161001
| NOTCH3 | | not provided | Likely benign (Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271812-15271813
- GRCh38:
- Chr19:15161001-15161002
| NOTCH3 | P2210fs | Lateral meningocele syndrome | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271813
- GRCh38:
- Chr19:15161002
| NOTCH3 | P2209L | not provided | Likely benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271819
- GRCh38:
- Chr19:15161008
| NOTCH3 | R2207Q | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271820
- GRCh38:
- Chr19:15161009
| NOTCH3 | R2207W | not provided, Lateral meningocele syndrome, Myofibromatosis, infantile, 2, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Inborn genetic diseases, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1
| Conflicting interpretations of pathogenicity (Mar 21, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271828
- GRCh38:
- Chr19:15161017
| NOTCH3 | P2204L | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Conflicting interpretations of pathogenicity (Oct 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271836
- GRCh38:
- Chr19:15161025
| NOTCH3 | | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Conflicting interpretations of pathogenicity (Oct 20, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271842
- GRCh38:
- Chr19:15161031
| NOTCH3 | | not provided | Likely benign (Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271846-15271847
- GRCh38:
- Chr19:15161035-15161036
| NOTCH3 | | not provided | Uncertain significance (Aug 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271862-15271941
- GRCh38:
- Chr19:15161051-15161130
| NOTCH3 | A2167fs | Lateral meningocele syndrome | not provided | no assertion provided |
| - GRCh37:
- Chr19:15271866
- GRCh38:
- Chr19:15161055
| NOTCH3 | | not specified | Benign (Jun 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271869
- GRCh38:
- Chr19:15161058
| NOTCH3 | | not provided | Likely benign (Sep 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271869
- GRCh38:
- Chr19:15161058
| NOTCH3 | | not provided | Likely benign (Dec 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271870
- GRCh38:
- Chr19:15161059
| NOTCH3 | A2190V | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Benign/Likely benign (Jul 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271875-15271876
- GRCh38:
- Chr19:15161064-15161065
| NOTCH3 | L2189fs | not provided | Pathogenic (Oct 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271880
- GRCh38:
- Chr19:15161069
| NOTCH3 | L2187V | not provided | Uncertain significance (Sep 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271888
- GRCh38:
- Chr19:15161077
| NOTCH3 | S2184L | not provided | Uncertain significance (Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271893
- GRCh38:
- Chr19:15161082
| NOTCH3 | | not specified | Likely benign (Sep 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271901
- GRCh38:
- Chr19:15161090
| NOTCH3 | P2180T | not provided | Uncertain significance (Aug 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271903
- GRCh38:
- Chr19:15161092
| NOTCH3 | A2179V | not provided | Uncertain significance (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr19:15271907
- GRCh38:
- Chr19:15161096
| NOTCH3 | P2178S | not provided, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 | Conflicting interpretations of pathogenicity (Oct 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr19:15271917
- GRCh38:
- Chr19:15161106
| NOTCH3 | | not specified, not provided | Likely benign (Dec 3, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271918
- GRCh38:
- Chr19:15161107
| NOTCH3 | R2174Q | Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, Lateral meningocele syndrome, Myofibromatosis, infantile, 2, not provided | Uncertain significance (Aug 18, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr19:15271929
- GRCh38:
- Chr19:15161118
| NOTCH3 | | not provided | Likely benign (Jan 26, 2022) | criteria provided, multiple submitters, no conflicts |