| - GRCh37:
- Chr1:53061024-77233450
- GRCh38:
- Chr1:52595352-76767765
| LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129930549, LOC129930550, LOC129930551, LOC129930552, LOC129930553, LOC129930554, LOC129930555, LOC129930556, LOC129930557, LOC129930558, LOC129930559, LOC129930560, LOC129930561, LOC129930562, LOC129930563, LOC129930564, LOC129930565, LOC129930566, LOC129930567, LOC129930568, LOC129930569, LOC129930570, LOC129930571, LOC129930572, LOC129930573, LOC129930574, LOC129930575, LOC129930576, LOC129930577, LOC129930578, LOC129930579, LOC129930580, LOC129930581, LOC129930582, LOC129930583, LOC129930584, LOC129930585, LOC129930586, LOC129930587, LOC129930588, LOC129930589, LOC129930590, LOC129930591, LOC129930592, LOC129930593, LOC129930594, LOC129930595, LOC129930596, LOC129930597, LOC129930598, LOC129930599, LOC129930600, LOC129930601, LOC129930602, LOC129930603, LOC129930604, LOC129930605, LOC129930606, LOC129930607, LOC129930608, LOC129930609, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC132088728, LOC132088729, LOC132088730, LOC132088731, LOC132088732, LOC132088733, LOC132088734, LOC132088735, LOC132090664, LRP8, LRP8-DT, LRRC40, LRRC42, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MAGOH, MAGOH-DT, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4422, MIR4422HG, MIR4711, MIR4781, MIR4794, MIR6068, MROH7, MROH7-TTC4, MRPL37, MSH4, MYSM1, NDC1, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PARS2, PATJ, PATJ-DT, PCSK9, PDE4B, PDE4B-AS1, PGM1, PLPP3, PODN, PRKAA2, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SCP2, SERBP1, SGIP1, SHISAL2A, SLC1A7, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, SSBP3, SSBP3-AS1, ST6GALNAC3, TACSTD2, TCEANC2, TM2D1, TMEM59, TMEM61, TNNI3K, TRK-CTT7-1, TTC22, TTC4, TYW3, UBE2U, USP1, USP24, WLS, YIPF1, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZYG11A, ZYG11B, ACADM, ACOT11, AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BSND, C1orf141, C1orf87, C8A, C8B, CACHD1, CDCP2, CIMAP2, COA7, CPT2, CRYZ, CTH, CYB5RL, CYP2J2, CZIB, CZIB-DT, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DHCR24, DIO1, DIRAS3, DLEU2L, DMRTB1, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, ECHDC2, EFCAB7, ERICH3, ERICH3-AS1, FAM151A, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FYB2, GADD45A, GLIS1, GNG12, GNG12-AS1, GPX7, HOOK1, HSD52, IFT25, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LDLRAD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01753, LINC01755, LINC01758, LINC01767, LINC01788, LINC02238, LINC02567, LINC02777, LINC02784, LINC02791, LINC02796, LINC03102, LOC100507634, LOC101926944, LOC101926964, LOC101927342, LOC101929935, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121126, LOC110121161, LOC111501769, LOC112590804, LOC112590805, LOC112590806, LOC112590807, LOC112590808, LOC112590809, LOC112590810, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC114827846, LOC115801429, LOC115801430, LOC120893134, LOC120893135, LOC120893136, LOC120893137, LOC120893138, LOC120893139, LOC120893140, LOC120893141, LOC121725023, LOC121725024, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122056873, LOC122056874, LOC122056875, LOC122056876, LOC122056877, LOC122056878, LOC122056879, LOC122056880, LOC122056881, LOC122056882, LOC122056883, LOC122056884, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805734, LOC126805735, LOC126805736, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LOC129388524, LOC129388525, LOC129388526, LOC129388527, LOC129388528, LOC129388529, LOC129388530, LOC129388531, LOC129388532, LOC129388533, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:57816246-71791607
- GRCh38:
- Chr1:57350574-71325924
| AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DAB1, DAB1-AS1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HOOK1, HSD52, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01358, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02777, LINC02791, LINC03102, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893139, LOC120893140, LOC120893141, LOC121725025, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056887, LOC122056888, LOC122056889, LOC122056890, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805737, LOC126805738, LOC126805739, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LOC129388534, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129930610, LOC129930611, LOC129930612, LOC129930613, LOC129930614, LOC129930615, LOC129930616, LOC129930617, LOC129930618, LOC129930619, LOC129930620, LOC129930621, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC132090664, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, MYSM1, NFIA, NFIA-AS1, NFIA-AS2, OMA1, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TACSTD2, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:59285277-86564294
- GRCh38:
- Chr1:58819605-86098611
| LOC129930848, LOC129930849, LOC129930850, LOC129930851, LOC129930852, LOC129930853, LOC129930854, LOC129930855, LOC129930856, LOC129930857, LOC129930858, LOC129930859, LOC129930860, LOC129930861, LOC129930862, LOC129930863, LOC129930864, LOC129930865, LOC129930866, LOC129930867, LOC129930868, LOC129930869, LOC129930870, LOC129930871, LOC129930872, LOC129930873, LOC129930874, LOC129930875, LOC129930876, LOC129930877, LOC129930878, LOC129930879, LOC129930880, LOC129930881, LOC132088736, LOC132088737, LOC132088738, LOC132088739, LOC132088740, LOC132088741, LOC132088742, LOC132090664, LPAR3, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MCOLN2, MCOLN3, MGC27382, MIER1, MIGA1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4423, MIR4711, MIR4794, MIR6068, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, RPF1, SAMD13, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TM2D1, TNNI3K, TTLL7, TTLL7-IT1, TYW3, UBE2U, USP1, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3, ACADM, ADGRL2, ADGRL4, AK4, AK5, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, BCL10, BCL10-AS1, C1orf141, C1orf52, C1orf87, CACHD1, CCN1, COL24A1, CRYZ, CTBS, CTH, CYP2J2, DDAH1, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI3, DNAI4, DNAJB4, DNAJC6, DNASE2B, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG12-AS1, GNG5, HOOK1, HSD52, IFI44, IFI44L, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01358, LINC01359, LINC01360, LINC01361, LINC01362, LINC01461, LINC01555, LINC01707, LINC01712, LINC01725, LINC01739, LINC01748, LINC01758, LINC01781, LINC01788, LINC02238, LINC02567, LINC02777, LINC02791, LINC02796, LINC03102, LOC101926944, LOC101926964, LOC101927342, LOC101927434, LOC101927560, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120683, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC110121238, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893140, LOC120893141, LOC120893142, LOC120893143, LOC120893144, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC121725034, LOC121725035, LOC121725036, LOC121725037, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC122094854, LOC122094855, LOC122094856, LOC122094857, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC126805766, LOC126805767, LOC126805768, LOC126805769, LOC126805770, LOC126805771, LOC126805772, LOC126805773, LOC126805774, LOC128772198, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129388556, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LOC129930797, LOC129930798, LOC129930799, LOC129930800, LOC129930801, LOC129930802, LOC129930803, LOC129930804, LOC129930805, LOC129930806, LOC129930807, LOC129930808, LOC129930809, LOC129930810, LOC129930811, LOC129930812, LOC129930813, LOC129930814, LOC129930815, LOC129930816, LOC129930817, LOC129930818, LOC129930819, LOC129930820, LOC129930821, LOC129930822, LOC129930823, LOC129930824, LOC129930825, LOC129930826, LOC129930827, LOC129930828, LOC129930829, LOC129930830, LOC129930831, LOC129930832, LOC129930833, LOC129930834, LOC129930835, LOC129930836, LOC129930837, LOC129930838, LOC129930839, LOC129930840, LOC129930841, LOC129930842, LOC129930843, LOC129930844, LOC129930845, LOC129930846, LOC129930847 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:59285277-69572791
- GRCh38:
- Chr1:58819605-69107108
| AK4, ALG6, ANGPTL3, ATG4C, C1orf141, C1orf87, CACHD1, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HOOK1, HSD52, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, JUN-DT, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01358, LINC01359, LINC01707, LINC01739, LINC01748, LINC02777, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC110121125, LOC111501769, LOC112590812, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC115801429, LOC120893140, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056891, LOC122056892, LOC122056893, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805740, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC128772198, LOC129388535, LOC129388536, LOC129388537, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129930622, LOC129930623, LOC129930624, LOC129930625, LOC129930626, LOC129930627, LOC129930628, LOC129930629, LOC129930630, LOC129930631, LOC129930632, LOC129930633, LOC129930634, LOC129930635, LOC129930636, LOC129930637, LOC129930638, LOC129930639, LOC129930640, LOC129930641, LOC129930642, LOC129930643, LOC129930644, LOC129930645, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC132090664, MIER1, MIR101-1, MIR12132, MIR1262, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, TM2D1, UBE2U, USP1, WLS | | See cases | Pathogenic (Aug 18, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:60098172-77196562
- GRCh38:
- Chr1:59632500-76730877
| LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC128772198, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129930646, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4711, MIR4794, MIR6068, MSH4, NEGR1, NEGR1-IT1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RABGGTB, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, TM2D1, TNNI3K, TYW3, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ACADM, AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ASB17, ATG4C, C1orf141, C1orf87, CACHD1, CRYZ, CTH, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, ERICH3, ERICH3-AS1, FGGY, FOXD3, FOXD3-AS1, FPGT, FPGT-TNNI3K, GADD45A, GNG12, GNG12-AS1, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC00466, LINC01359, LINC01360, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02238, LINC02791, LINC02796, LINC03102, LOC101926944, LOC101926964, LOC101927342, LOC105378798, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590814, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC121725032, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:60226528-72043735
- GRCh38:
- Chr1:59760856-71578052
| AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FGGY, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, HOOK1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02791, LINC03102, LOC101926944, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805741, LOC126805742, LOC126805743, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129930647, LOC129930648, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR186, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4794, MIR6068, NEGR1, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT | | See cases | Pathogenic (Apr 23, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:60939472-71410638
- GRCh38:
- Chr1:60473800-70944955
| AK4, ALG6, ANGPTL3, ANKRD13C, ANKRD13C-DT, ATG4C, C1orf141, CACHD1, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DLEU2L, DNAI4, DNAJC6, DOCK7, DOCK7-DT, DYNLT5, EFCAB7, FOXD3, FOXD3-AS1, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, INSL5, ITGB3BP, JAK1, KANK4, L1TD1, LEPR, LEPROT, LINC00466, LINC01359, LINC01707, LINC01739, LINC01748, LINC01758, LINC01788, LINC02791, LINC03102, LOC101926964, LOC107983962, LOC110120599, LOC110120600, LOC110120659, LOC110120763, LOC110121050, LOC110121108, LOC110121124, LOC111501769, LOC112590815, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725026, LOC121725027, LOC121725028, LOC121725029, LOC121725030, LOC122056894, LOC122056895, LOC122056896, LOC122056897, LOC122056898, LOC122094839, LOC122094840, LOC122094841, LOC122094842, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805744, LOC126805745, LOC126805746, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC128772198, LOC129388538, LOC129388539, LOC129388540, LOC129388541, LOC129388542, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129930649, LOC129930650, LOC129930651, LOC129930652, LOC129930653, LOC129930654, LOC129930655, LOC129930656, LOC129930657, LOC129930658, LOC129930659, LOC129930660, LOC129930661, LOC129930662, LOC129930663, LOC129930664, LOC129930665, LOC129930666, LOC129930667, LOC129930668, LOC129930669, LOC129930670, LOC129930671, LOC129930672, LOC129930673, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LRRC40, LRRC7, LRRC7-AS1, MIER1, MIR101-1, MIR12132, MIR1262, MIR3116-1, MIR3116-2, MIR3117, MIR3671, MIR4794, MIR6068, NFIA, NFIA-AS1, NFIA-AS2, PATJ, PATJ-DT, PDE4B, PDE4B-AS1, PGM1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SRSF11, TM2D1, UBE2U, USP1, WLS | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:64538290-75984117
- GRCh38:
- Chr1:64072618-75518432
| AK4, ANKRD13C, ANKRD13C-DT, C1orf141, CACHD1, CRYZ, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DNAI4, DNAJC6, DYNLT5, ERICH3, ERICH3-AS1, FPGT, FPGT-TNNI3K, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, INSL5, JAK1, LEPR, LEPROT, LHX8, LHX8-AS1, LINC01359, LINC01360, LINC01707, LINC01758, LINC01788, LINC02238, LINC02791, LINC02796, LINC03102, LOC105378798, LOC107983962, LOC112590816, LOC112590817, LOC112590818, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC121725028, LOC121725029, LOC121725030, LOC122094843, LOC122094844, LOC122094845, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805747, LOC126805748, LOC126805749, LOC126805750, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC129388543, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129930674, LOC129930675, LOC129930676, LOC129930677, LOC129930678, LOC129930679, LOC129930680, LOC129930681, LOC129930682, LOC129930683, LOC129930684, LOC129930685, LOC129930686, LOC129930687, LOC129930688, LOC129930689, LOC129930690, LOC129930691, LOC129930692, LOC129930693, LOC129930694, LOC129930695, LOC129930696, LOC129930697, LOC129930698, LOC129930699, LOC129930700, LOC129930701, LOC129930702, LOC129930703, LOC129930704, LOC129930705, LOC129930706, LOC129930707, LOC129930708, LOC129930709, LOC129930710, LOC129930711, LOC129930712, LOC129930713, LOC129930714, LOC129930715, LOC129930716, LOC129930717, LOC129930718, LOC129930719, LOC129930720, LOC129930721, LOC129930722, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIR101-1, MIR1262, MIR186, MIR3117, MIR3671, MIR4794, NEGR1, NEGR1-IT1, PDE4B, PDE4B-AS1, PTGER3, RAVER2, ROR1, ROR1-AS1, RPE65, SERBP1, SGIP1, SLC35D1, SLC44A5, SRSF11, TNNI3K, TYW3, UBE2U, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT | | See cases | Pathogenic (Aug 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:67330808-77589066
- GRCh38:
- Chr1:66865125-77123381
| LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIR1262, MIR186, MIR7156, MSH4, NEGR1, NEGR1-IT1, PIGK, PTGER3, RABGGTB, RPE65, SERBP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, ST6GALNAC5, TNNI3K, TYW3, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ACADM, ANKRD13C, ANKRD13C-DT, ASB17, C1orf141, CRYZ, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DNAI4, ERICH3, ERICH3-AS1, FPGT, FPGT-TNNI3K, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, LHX8, LHX8-AS1, LINC01360, LINC01707, LINC01758, LINC01788, LINC02238, LINC02567, LINC02791, LINC02796, LINC03102, LOC101927342, LOC105378798, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094853, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730 | | See cases | Pathogenic (Mar 26, 2013) | no assertion criteria provided |
| - GRCh38:
- Chr1:66885559-77949895
| ACADM, AK5, ANKRD13C, ANKRD13C-DT, ASB17, C1orf141, CRYZ, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, DNAI4, ERICH3, ERICH3-AS1, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, LHX8, LHX8-AS1, LINC01360, LINC01707, LINC01758, LINC01788, LINC02238, LINC02567, LINC02791, LINC02796, LINC03102, LOC101927342, LOC105378798, LOC112590819, LOC112590820, LOC115801429, LOC115801430, LOC120893141, LOC120893142, LOC121725029, LOC121725030, LOC121725032, LOC121725033, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC122094852, LOC122094853, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC126805757, LOC126805758, LOC126805759, LOC126805760, LOC126805761, LOC126805762, LOC126805763, LOC126805764, LOC126805765, LOC129388544, LOC129388545, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129388550, LOC129388551, LOC129388552, LOC129388553, LOC129388554, LOC129388555, LOC129930723, LOC129930724, LOC129930725, LOC129930726, LOC129930727, LOC129930728, LOC129930729, LOC129930730, LOC129930731, LOC129930732, LOC129930733, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LOC129930763, LOC129930764, LOC129930765, LOC129930766, LOC129930767, LOC129930768, LOC129930769, LOC129930770, LOC129930771, LOC129930772, LOC129930773, LOC129930774, LOC129930775, LOC129930776, LOC129930777, LOC129930778, LOC129930779, LOC129930780, LOC129930781, LOC129930782, LOC129930783, LOC129930784, LOC129930785, LOC129930786, LOC129930787, LOC129930788, LOC129930789, LOC129930790, LOC129930791, LOC129930792, LOC129930793, LOC129930794, LOC129930795, LOC129930796, LRRC40, LRRC53, LRRC7, LRRC7-AS1, LRRIQ3, MIER1, MIGA1, MIR1262, MIR186, MIR7156, MSH4, NEGR1, NEGR1-IT1, NEXN, NEXN-AS1, PIGK, PTGER3, RABGGTB, RPE65, SERBP1, SLC35D1, SLC44A5, SNORD45A, SNORD45B, SNORD45C, SRSF11, ST6GALNAC3, ST6GALNAC5, TNNI3K, TYW3, USP33, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT, ZZZ3 | | not specified | Uncertain significance (Sep 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:67705387-72390489
- GRCh38:
- Chr1:67239704-71924806
| ANKRD13C, ANKRD13C-DT, CTH, DEPDC1, DEPDC1-AS1, DIRAS3, GADD45A, GNG12, GNG12-AS1, IL12RB2, IL23R, LINC01707, LINC01758, LINC01788, LINC02791, LINC03102, LOC112590819, LOC115801429, LOC115801430, LOC120893141, LOC121725029, LOC121725030, LOC122094846, LOC122094847, LOC122094848, LOC122094849, LOC122094850, LOC122094851, LOC126805751, LOC126805752, LOC126805753, LOC126805754, LOC126805755, LOC126805756, LOC129388546, LOC129388547, LOC129388548, LOC129388549, LOC129930734, LOC129930735, LOC129930736, LOC129930737, LOC129930738, LOC129930739, LOC129930740, LOC129930741, LOC129930742, LOC129930743, LOC129930744, LOC129930745, LOC129930746, LOC129930747, LOC129930748, LOC129930749, LOC129930750, LOC129930751, LOC129930752, LOC129930753, LOC129930754, LOC129930755, LOC129930756, LOC129930757, LOC129930758, LOC129930759, LOC129930760, LOC129930761, LOC129930762, LRRC40, LRRC7, LRRC7-AS1, MIR1262, MIR186, NEGR1, NEGR1-IT1, PTGER3, RPE65, SERBP1, SRSF11, WLS, ZRANB2, ZRANB2-AS1, ZRANB2-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68564393
- GRCh38:
- Chr1:68098710
| WLS, GNG12-AS1 | F518fs | not provided | Benign (Jul 4, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68591929
- GRCh38:
- Chr1:68126246
| GNG12-AS1, WLS | R445C, R536C | WLS syndrome | Likely pathogenic (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68591943
- GRCh38:
- Chr1:68126260
| GNG12-AS1, WLS | I440T, I531T | WLS syndrome | Likely pathogenic (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603465
- GRCh38:
- Chr1:68137782
| WLS, GNG12-AS1 | N414S, N503S, N505S | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603478
- GRCh38:
- Chr1:68137795
| WLS, GNG12-AS1 | E501Q, E410Q, E499Q | Inborn genetic diseases | Uncertain significance (Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603483
- GRCh38:
- Chr1:68137800
| WLS, GNG12-AS1 | Y499C, Y497C, Y408C | Inborn genetic diseases | Uncertain significance (Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603512
- GRCh38:
- Chr1:68137829
| GNG12-AS1, WLS | M398I, M487I, M489I | Inborn genetic diseases | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603529
- GRCh38:
- Chr1:68137846
| GNG12-AS1, WLS | Y482H, Y484H, Y393H | Inborn genetic diseases | Uncertain significance (Jul 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603546
- GRCh38:
- Chr1:68137863
| GNG12-AS1, WLS | Y387C, Y476C, Y478C | WLS syndrome | Pathogenic (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603565
- GRCh38:
- Chr1:68137882
| GNG12-AS1, WLS | A381S, A472S, A470S | Inborn genetic diseases | Uncertain significance (Aug 21, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68603612
- GRCh38:
- Chr1:68137929
| GNG12-AS1, WLS | T365M, T454M, T456M | Inborn genetic diseases | Uncertain significance (Jan 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68610260
- GRCh38:
- Chr1:68144577
| GNG12-AS1, WLS | V452I, V450I, V361I | Inborn genetic diseases | Uncertain significance (Apr 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68611616
- GRCh38:
- Chr1:68145933
| GNG12-AS1, WLS | R403Q, R314Q, R405Q | Inborn genetic diseases | Uncertain significance (Aug 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68611655
- GRCh38:
- Chr1:68145972
| GNG12-AS1, WLS | Y301C, Y390C, Y392C | WLS syndrome | Pathogenic (Apr 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68611662
- GRCh38:
- Chr1:68145979
| GNG12-AS1, WLS | C390G, C299G, C388G | Inborn genetic diseases | Uncertain significance (Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68615882
- GRCh38:
- Chr1:68150199
| GNG12-AS1, WLS | E319K, E230K, E321K | Inborn genetic diseases | Uncertain significance (Mar 17, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68615924
- GRCh38:
- Chr1:68150241
| GNG12-AS1, WLS | F216L, F305L, F307L | Zaki syndrome | Uncertain significance (Dec 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68619278
- GRCh38:
- Chr1:68153595
| GNG12-AS1, WLS | T151M, T242M, T240M | Inborn genetic diseases | Uncertain significance (Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68619285
- GRCh38:
- Chr1:68153602
| GNG12-AS1, WLS | F149L, F238L, F240L | Inborn genetic diseases | Uncertain significance (Feb 28, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68619301
- GRCh38:
- Chr1:68153618
| GNG12-AS1, WLS | W143C, W232C, W234C | Zaki syndrome | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr1:68620789
- GRCh38:
- Chr1:68155106
| GNG12-AS1, WLS | R129Q, R218Q, R220Q | Inborn genetic diseases | Uncertain significance (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68620843
- GRCh38:
- Chr1:68155160
| GNG12-AS1, WLS | P200L, P111L, P202L | Inborn genetic diseases | Uncertain significance (Jun 6, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68620872
- GRCh38:
- Chr1:68155189
| WLS, GNG12-AS1 | H192Q, H190Q, H101Q | Inborn genetic diseases | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68620894
- GRCh38:
- Chr1:68155211
| GNG12-AS1, WLS | M185T, M183T, M94T | Inborn genetic diseases | Uncertain significance (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68624878
- GRCh38:
- Chr1:68159195
| GNG12-AS1, WLS | | Zaki syndrome | Benign (Apr 11, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68624880
- GRCh38:
- Chr1:68159197
| GNG12-AS1, WLS | A142T, A144T, A53T | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68624909
- GRCh38:
- Chr1:68159226
| WLS, GNG12-AS1 | M43T, M132T, M134T | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68659790
- GRCh38:
- Chr1:68194107
| GNG12-AS1, WLS | D74G, D76G | Inborn genetic diseases | Uncertain significance (Jun 29, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68659856
- GRCh38:
- Chr1:68194173
| WLS, GNG12-AS1 | R52H, R54H | Inborn genetic diseases | Uncertain significance (Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68697879
- GRCh38:
- Chr1:68232196
| WLS | I35T | Inborn genetic diseases | Uncertain significance (Apr 4, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68697958
- GRCh38:
- Chr1:68232275
| WLS | M9V | Inborn genetic diseases | Uncertain significance (May 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68180293-92731957
| MCOLN3, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PIGK, PKN2, PRKACB, PTGER3, ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BARHL2, BCL10, BRDT, BTBD8, C1orf146, C1orf52, CCN1, CDC7, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAJB4, DNASE2B, EPHX4, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GIPC2, GLMN, GNG12, GNG5, GTF2B, HFM1, HHLA3, HS2ST1, IFI44, IFI44L, KYAT3, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, MCOLN2, PTGFR, RABGGTB, RBMXL1, RPE65, RPF1, SAMD13, SELENOF, SH3GLB1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TGFBR3, TNNI3K, TTLL7, TYW3, USP33, WLS, ZNF326, ZNF644, ZNHIT6, ZRANB2, ZRANB2-DT, ZZZ3 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:65125111-69186543
| SGIP1, SLC35D1, WLS, AK4, C1orf141, CACHD1, DEPDC1, DIRAS3, DNAI4, DNAJC6, DYNLT5, GADD45A, GNG12, IL12RB2, IL23R, INSL5, JAK1, LEPR, LEPROT, MIER1, MIR101-1, PDE4B, RAVER2, RPE65, SERBP1 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:68362723-69625048
| DEPDC1, DIRAS3, RPE65, WLS | | not provided | Uncertain significance (Jan 3, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:67866958-68874096
| SERBP1, GADD45A, GNG12, DIRAS3, WLS | | not provided | Uncertain significance (May 8, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:66868168-77106425
| ACADM, ANKRD13C, ASB17, C1orf141, CRYZ, CTH, DEPDC1, DIRAS3, DNAI4, DYNLT5, ERICH3, FPGT, FPGT-TNNI3K, GADD45A, GNG12, HHLA3, IL12RB2, IL23R, INSL5, LHX8, LRRC40, LRRC7, LRRIQ3, MIER1, MSH4, NEGR1, NEGR1-IT1, PTGER3, RABGGTB, RPE65, SERBP1, SGIP1, SLC35D1, SLC44A5, SRSF11, ST6GALNAC3, TNNI3K, TYW3, WLS, ZRANB2, ZRANB2-DT | | not provided | Pathogenic (Apr 27, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr1:67851233-86101340
| ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf52, CCN1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAJB4, DNASE2B, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, IFI44, IFI44L, IL12RB2, LHX8, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SERBP1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TNNI3K, TTLL7, TYW3, USP33, WLS, ZRANB2, ZRANB2-DT, ZZZ3 | | not provided | Pathogenic (May 23, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr1:66085524-88429789
| ACADM, ADGRL2, ADGRL4, AK5, ANKRD13C, ASB17, BCL10, C1orf141, C1orf52, CCN1, CLCA1, CLCA2, CLCA4, COL24A1, CRYZ, CTBS, CTH, DDAH1, DEPDC1, DIRAS3, DNAI3, DNAI4, DNAJB4, DNASE2B, DYNLT5, ERICH3, FPGT, FPGT-TNNI3K, FUBP1, GADD45A, GIPC2, GNG12, GNG5, HHLA3, HS2ST1, IFI44, IFI44L, IL12RB2, IL23R, INSL5, LEPR, LHX8, LMO4, LOC101927434, LPAR3, LRRC40, LRRC7, LRRIQ3, MCOLN2, MCOLN3, MIER1, MIGA1, MSH4, NEGR1, NEGR1-IT1, NEXN, ODF2L, PDE4B, PIGK, PRKACB, PTGER3, PTGFR, RABGGTB, RPE65, RPF1, SAMD13, SELENOF, SERBP1, SGIP1, SH3GLB1, SLC35D1, SLC44A5, SPATA1, SRSF11, SSX2IP, ST6GALNAC3, ST6GALNAC5, SYDE2, TNNI3K, TTLL7, TYW3, USP33, WLS, ZNHIT6, ZRANB2, ZRANB2-DT, ZZZ3 | | not provided | not provided | no assertion provided |
| - GRCh37:
- Chr1:59922631-72058653
| ITGB3BP, JAK1, KANK4, L1TD1, ROR1, LEPR, LEPROT, LRRC40, SLC35D1, SRSF11, TM2D1, NEGR1, UBE2U, LRRC7, MIER1, MIR101-1, RPE65, SERBP1, SGIP1, AK4, ALG6, ANGPTL3, ANKRD13C, ATG4C, C1orf141, C1orf87, CACHD1, CTH, CYP2J2, DEPDC1, DIRAS3, DNAI4, DNAJC6, DOCK7, DYNLT5, EFCAB7, FGGY, FOXD3, GADD45A, GNG12, HHLA3, HOOK1, IL12RB2, IL23R, INSL5, NFIA, PATJ, PDE4B, PGM1, PTGER3, RAVER2, USP1, WLS, ZRANB2, ZRANB2-DT | | Intellectual disability, severe | Pathogenic (Jan 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:10333430-103467088
| ANGPTL7, C1orf127, C1orf141, CDKN2C, CSF3R, DNAI4, EPHA8, FOXD3, GPX7, GRHL3, GRIK3, IGSF21, IL12RB2, LAPTM5, MAD2L2, MUTYH, MYCBP, PADI2, POU3F1, PPCS, PPIE, RAP1GAP, RWDD3, SNHG3, SNIP1, SNORA73A, TAS1R2, TCEA3, TCEANC2, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, XKR8, ZRANB2-DT, ZYG11B, ZZZ3, ZSCAN20, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H12A, ZCCHC17, ZDHHC18, YBX1, YIPF1, YRDC, YTHDF2, ZSWIM5, TRIM62, TRIM63, TRIT1, TRMT13, TRNAU1AP, TRNP1, TRQ-CTG14-1, TTC22, TTC39A, TTC4, TTLL7, TUT4, TXLNA, TEX38, TEX46, TXNDC12, TYW3, UBE2U, TSPAN1, TSSK3, ZYG11A, YARS1, ZBTB17, ZBTB40, TEKT2, TINAGL1, TLCD4, TM2D1, SNX7, SPATA1, SRSF11, SSX2IP, SPATA21, SPATA6, TENT5B, TESK2, TFAP2E, TGFBR3, THEMIS2, THRAP3, TIE1, TMCO2, S100PBP, S1PR1, SAMD13, SESN2, SF3A3, SFN, SFPQ, SGIP1, SH2D5, SH3BGRL3, SH3D21, SH3GLB1, SASS6, SCMH1, SCP2, SDC3, TMCO4, TMED5, SNORD21, SNRNP40, SRSF4, SSBP3, ST3GAL3, RAVER2, RBBP4, RHCE, RHD, RIMKLA, RIMS3, PRAMEF17, PRAMEF1, PRAMEF13, PRAMEF15, PRDM2, RLF, RBMXL1, RNF11, RNF186, RCAN3, RCC1, PADI3, PADI4, PADI6, PAFAH2, PATJ, PAX7, PEX14, PHACTR4, PHC2, PIGK, PIGV, PALMD, PAQR7, PARS2, PGD, PGM1, RCC2, RHBDL2, PPIH, PPP1R8, PPT1, PRAMEF10, PRAMEF11, MYCL, MYOM3, NCDN, NDUFS5, NECAP2, NCMAP, NDC1, MIGA1, MIIP, MANEAL, MAP3K6, MAP7D1, MCOLN3, MDS2, NEGR1, NEGR1-IT1, NEXN, MYSM1, NASP, NBL1, NBPF1, NBPF3, PRAMEF12, LDLRAD1, LDLRAD2, LDLRAP1, LEPR, LHX8, LIN28A, LINC00853, LINC01783, LMO4, LEPROT, LOC101927434, MAGOH, MAN1C1, MARCKSL1, MASP2, MAST2, MATN1, MCOLN2, MEAF6, MECR, MED18, IL22RA1, IL23R, INPP5B, INSL5, KCNQ4, KDF1, IPP, IQCC, KANK4, KAZN, ITGB3BP, IPO13, JAK1, JUN, MED8, MFAP2, LCK, GTF2B, GUCA2A, GUCA2B, HCRTR1, HDAC1, HECTD3, HEYL, HFM1, HPDL, HS2ST1, HSPB7, HSPG2, FUBP1, GBP7, GCLM, FUCA1, FYB2, FAAH, FABP3, EPHX4, EPS15, EVA1B, EVI5, FAF1, GADD45A, GBP4, GBP5, GBP6, GALE, GBP1, DNAJB4, DNAJC16, DNTTIP2, DOCK7, DPH2, DNALI1, DPH5, DPYD, DR1, DRAXIN, DYNLT4, DYNLT5, DNAJC6, DNAJC8, DNASE2B, GBP2, GBP3, EPHB2, FAM110D, FAM131C, ERI3, CSMD2, CTBS, CTH, CTPS1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CITED4, CLCA1, CLCA2, CELA3B, CENPS, CZIB, DAB1, DBT, DCDC2B, CTRC, CYP4X1, CYP4Z1, ERICH3, ERMAP, C1orf167, C1orf185, C1orf210, C1orf216, C1orf52, C1orf87, C1orf50, C1orf94, C8A, CELA2A, CELA2B, CELA3A, CENPS-CORT, CEP85, CFAP107, CFAP144, ANKRD13C, ANKRD13C-DT, ARHGAP29, ARHGEF10L, ARHGEF19, ATP13A2, AADACL3, AADACL4, ABCA4, ABCD3, ACADM, ATP5IF1, AUNIP, AZIN2, ATP6V0B, ATPAF1, CFAP57, CIMAP2, C1orf146, A3GALT2, ACOT11, ACTL8, ADGRB2, ADGRL2, ADGRL4, ADPRS, AGBL4, AGL, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHDC1, AIRIM, AK2, AK4, AK5, AKIRIN1, AKR1A1, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALG14, ALG6, ALPL, ANGPTL3, ARID1A, ARMH1, ARTN, ASAP3, ASB17, ATG4C, B4GALT2, BARHL2, BCAR3, BCL10, BEND5, BEST4, BMP8A, BMP8B, BRDT, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, C1QA, C1QB, C1QC, C1orf122, C8B, CACHD1, CAMK2N1, CAP1, CAPZB, CASP9, CASZ1, CATSPER4, CC2D1B, CCDC17, CCDC18, CCDC24, CCDC28B, CCDC30, CCN1, CD164L2, CD52, CDA, CDC14A, CDC20, CDC42, CDC7, CDCA8, CDCP2, CLCA4, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLSPN, CMPK1, CNKSR1, CNN3, CNR2, COA7, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, CORT, CPLANE2, CPT2, CROCC, CRYBG2, CRYZ, DDAH1, DDI2, DDOST, DEPDC1, DFFA, DHCR24, DHDDS, DHRS3, DIO1, DIPK1A, DIRAS3, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAI3, E2F2, EBNA1BP2, ECE1, ECHDC2, EDN2, EFCAB14, EFCAB7, EFHD2, EIF2B3, EIF3I, EIF4G3, ELAVL4, ELOA, ELOVL1, EMC1, EPB41, EPHA10, EPHA2, EXO5, EXOSC10, EXTL1, EXTL2, EYA3, F3, FAM151A, FAM167B, FAM229A, FAM43B, FAM76A, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FCN3, FGGY, FGR, FHAD1, FHL3, FNBP1L, FNDC5, FOXD2, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, GFI1, GIPC2, GJA4, GJA9, GJB3, GJB4, GJB5, GLIS1, GLMN, GMEB1, GNG12, GNG5, GNL2, GPATCH3, GPBP1L1, GPN2, GPR3, GPR88, HIVEP3, HMGB4, HMGCL, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HOOK1, HP1BP3, HPCA, HPCAL4, ID3, HTR1D, HTR6, HYI, IFFO2, IFI44, IFI44L, IFI6, IFNLR1, IFT25, KDM1A, KDM4A, KHDRBS1, KIAA0319L, KIAA0754, KIAA1522, KIAA2013, KIF17, KIF1B, KIF2C, KLF17, KLHDC7A, KNCN, KPNA6, KTI12, KYAT3, L1TD1, LACTBL1, LPAR3, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC7, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LSM10, LURAP1, LUZP1, LYPLA2, MACF1, MACO1, MFN2, MFSD14A, MFSD2A, MICOS10, MICOS10-NBL1, MIER1, MIR101-1, MIR137, MIR30C1, MKNK1, MMACHC, MOB3C, MPL, MROH7, MRPL37, MRPS15, MRTO4, MSH4, MTF1, MTF2, MTFR1L, MTHFR, MTOR, MUL1, NFIA, NFYC, NIPAL3, NKAIN1, NPPA, NPPB, NR0B2, NRDC, NSUN4, NT5C1A, NUDC, ODF2L, OLFM3, OMA1, OPRD1, ORC1, OSBPL9, OSCP1, OTUD3, OXCT2, P3H1, PABPC4, PABPC4-AS1, PADI1, PCSK9, PDE4B, PDIK1L, PDPN, PDZK1IP1, PEF1, PIK3R3, PINK1, PITHD1, PKN2, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PLEKHM2, PLK3, PLOD1, PLPP3, PLPPR4, PNRC2, PODN, POMGNT1, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDX1, PRKAA2, PRKACB, PRPF38A, PSMB2, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTP4A2, PTPRF, PTPRU, PUM1, RAB3B, RAB42, RABGGTB, RAD54L, RNF19B, RNF220, RNU1-4, ROR1, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL5, RPS6KA1, RPS8, RRAGC, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, SDHB, SELENOF, SELENON, SERBP1, SERINC2, SHISAL2A, SLC1A7, SLC25A34, SLC2A1, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC44A3, SLC44A5, SLC5A9, SLC66A1, SLC6A9, SLC9A1, SLFNL1, SMAP2, SMIM12, SMPDL3B, SPEN, SPOCD1, SRARP, SRM, SRRM1, SRSF10, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STMN1, STPG1, STX12, SVBP, SYDE2, SYF2, SYNC, SYTL1, SZRD1, SZT2, TACSTD2, TAF12, TAL1, TARDBP, TMEM125, TMEM200B, TMEM222, TMEM234, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM53, TMEM54, TMEM59, TMEM61, TMEM69, TMEM82, TNFRSF1B, TNFRSF8, TNNI3K, TOE1, TRABD2B, UBIAD1, UBR4, UBXN10, UBXN11, UQCRH, UROD, USP1, USP24, USP33, USP48, UTP11, VCAM1, VPS13D, VWA5B1, WASF2, WDTC1, WLS, WNT4, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF326, ZNF362, ZNF436, ZNF593, ZNF644, ZNF683, ZNF684, ZNF691, ZNHIT6, ZRANB2 | | Intellectual disability, mild, Global developmental delay | Uncertain significance (Apr 4, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr1:82154-249218992
| ADSS2, SPSB1, TAF5L, TAFA3, TMEM222, TRIM63, USF1, YOD1, YRDC, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, YTHDF2, YY1AP1, ZBED6, ZCCHC17, ZDHHC18, ZFP69B, UTP25, UTS2, USP24, USP33, USP48, ZFP69, ZBTB17, ZBTB8A, USH2A, UTP11, VAMP3, TRMT13, TRMT1L, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, USP1, USP21, TRIM67, TRIT1, TSPAN1, TSPAN2, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM240, TMEM35B, TMEM39B, TMEM50A, TSSK3, TRN-GTT2-7, TRNAU1AP, TRNP1, TMEM234, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TARBP1, TMEM51, TMEM52, TMEM53, TMEM54, SSU72, SSX2IP, SRGAP2B, SRGAP2C, SRM, SRP9, SRSF10, SRSF11, SRSF4, SRARP, SRGAP2, SRRM1, SSBP3, SSR2, TAGLN2, TAL1, AGBL4, AGL, AK4, AK5, AKIRIN1, AKNAD1, AGRN, AGT, AGMAT, AGO1, AGO3, AGO4, AGTRAP, AHCTF1, AHCYL1, TBCE, TBX15, SPTA1, A3GALT2, AADACL3, AADACL4, ABCA4, ABCB10, ABCD3, ABL2, ACADM, ACAP3, ACBD3, ACBD6, ACKR1, ACOT11, ACOT7, ACP6, ACTA1, ACTL8, ACTN2, ACTRT2, ADAM15, ADAM30, ADAMTS4, ADAMTSL4, ADAR, ADCY10, ADGRB2, ADGRL2, ADGRL4, ADIPOR1, ADORA1, ADORA3, ADPRS, AHDC1, AIDA, AIM2, AIRIM, AJAP1, AK2, AKR1A1, AKR7A2, AKR7A3, AKR7L, AKT3, ALDH4A1, ALDH9A1, SNRNP40, SNRPE, SNX27, SNX7, SOAT1, SORT1, SOX13, SPAG17, SPATA1, SPATA17, SPATA21, SPATA45, SPATA46, SPATA6, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, STX6, STXBP3, STYXL2, SUCO, SUSD4, SV2A, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SYT11, SYT14, SYT2, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TEX35, TEX38, TEX46, TFAP2E, TFB2M, TGFB2, TGFBR3, THAP3, THBS3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TIMM17A, TINAGL1, TIPRL, TLCD4, TLR5, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TNFSF18, TNFSF4, TNN, TNNI1, TNNI3K, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TOR1AIP2, TOR3A, TP53BP2, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRAF5, TRAPPC3, TRE-TTC3-1, TRG-CCC1-1, TRH-GTG2-1, TRIM11, TRIM17, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, TYW3, UAP1, UBAP2L, UBE2J2, UBE2Q1, UBE2T, UBE2U, UBE4B, UBIAD1, UBL4B, UBQLN4, UBR4, UBXN10, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, WLS, WNT2B, WNT3A, WNT4, WNT9A, WRAP73, XCL1, XCL2, XKR8, XPR1, YARS1, YBX1, YIPF1, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648, ZNF669, ZNF670, ZNF672, ZNF678, ZNF683, ZNF684, ZNF687, ZNF691, ZNF692, ZNF695, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B, ZZZ3, ALG14, ALG6, ALPL, ALX3, AMIGO1, AMPD1, AMPD2, AMY1A, AMY1B, AMY1C, AMY2A, AMY2B, ANGEL2, ANGPTL1, ANGPTL3, ANGPTL7, ANKRD13C, ANKRD13C-DT, ANKRD34A, ANKRD35, ANKRD45, ANKRD65, ANP32E, ANXA9, AP4B1, APCS, APH1A, APOA2, APOBEC4, AQP10, ARF1, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARHGEF2, ARID1A, ARID4B, ARL8A, ARMH1, ARNT, ARPC5, ARTN, ARV1, ASAP3, ASB17, ASCL5, ASH1L, ASPM, ASTN1, ATAD3A, ATAD3B, ATAD3C, ATF3, ATF6, ATG4C, ATP13A2, ATP1A1, ATP1A2, ATP1A4, ATP1B1, ATP2B4, ATP5IF1, ATP5PB, ATP6V0B, ATP6V1G3, ATP8B2, ATPAF1, ATXN7L2, AUNIP, AURKAIP1, AVPR1B, AXDND1, AZIN2, B3GALNT2, B3GALT2, B3GALT6, B4GALT2, B4GALT3, BARHL2, BATF3, BCAN, BCAR3, BCAS2, BCL10, BCL2L15, BCL9, BEND5, BEST4, BGLAP, BLZF1, BMP8A, BMP8B, BNIPL, BOLA1, BPNT1, BRDT, BRINP2, BRINP3, BROX, BSDC1, BSND, BTBD19, BTBD8, BTF3L4, BTG2, BTNL10, C1QA, C1QB, C1QC, C1QTNF12, C1orf105, C1orf115, C1orf116, C1orf122, C1orf127, C1orf131, C1orf141, C1orf146, C1orf159, C1orf162, C1orf167, C1orf174, C1orf185, C1orf198, C1orf21, C1orf210, C1orf216, C1orf226, C1orf35, C1orf43, C1orf50, C1orf52, C1orf53, C1orf54, C1orf56, C1orf74, C1orf87, C1orf94, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA14, CA6, CACHD1, CACNA1E, CACNA1S, CACYBP, CADM3, CALML6, CAMK1G, CAMK2N1, CAMSAP2, CAMTA1, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CAPZB, CASP9, CASQ1, CASQ2, CASZ1, CATSPER4, CATSPERE, CC2D1B, CCDC17, CCDC18, CCDC181, CCDC185, CCDC190, CCDC24, CCDC27, CCDC28B, CCDC30, CCN1, CCNL2, CCSAP, CCT3, CD101, CD160, CD164L2, CD1A, CD1B, CD1C, CD1D, CD1E, CD2, CD244, CD247, CD34, CD46, CD48, CD52, CD53, CD55, CD58, CD5L, CD84, CDA, CDC14A, CDC20, CDC42, CDC42BPA, CDC42SE1, CDC7, CDC73, CDCA8, CDCP2, CDK11A, CDK11B, CDK18, CDKN2C, CELA2A, CELA2B, CELA3A, CELA3B, CELF3, CELSR2, CENPF, CENPL, CENPS, CENPS-CORT, CEP104, CEP170, CEP350, CEP85, CEPT1, CERS2, CFAP107, CFAP126, CFAP141, CFAP144, CFAP276, CFAP45, CFAP57, CFAP74, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHIT1, CHML, CHRM3, CHRNB2, CHTOP, CIART, CIMAP2, CIMAP3, CITED4, CKS1B, CLCA1, CLCA2, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLDN19, CLIC4, CLK2, CLSPN, CLSTN1, CMPK1, CNIH3, CNIH4, CNKSR1, CNN3, CNR2, CNST, CNTN2, COA6, COA7, COG2, COL11A1, COL16A1, COL24A1, COL8A2, COL9A2, COLGALT2, COP1, COPA, COQ8A, CORT, COX20, CPLANE2, CPT2, CPTP, CR1, CR1L, CR2, CRABP2, CRB1, CRCT1, CREB3L4, CREG1, CRNN, CROCC, CRP, CRTC2, CRYBG2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CSRP1, CTBS, CTH, CTNNBIP1, CTPS1, CTRC, CTSE, CTSK, CTSS, CTTNBP2NL, CYB561D1, CYB5R1, CYB5RL, CYP2J2, CYP4A11, CYP4A22, CYP4B1, CYP4X1, CYP4Z1, CZIB, DAB1, DAP3, DARS2, DBT, DCAF6, DCAF8, DCAF8-DT, DCDC2B, DCLRE1B, DCST1, DCST2, DDAH1, DDI2, DDOST, DDR2, DDX20, DDX59, DEDD, DEGS1, DENND1B, DENND2C, DENND2D, DENND4B, DEPDC1, DESI2, DFFA, DFFB, DHCR24, DHDDS, DHRS3, DHX9, DIO1, DIPK1A, DIRAS3, DISC1, DISC2, DISP1, DISP3, DLGAP3, DMAP1, DMBX1, DMRTA2, DMRTB1, DNAH14, DNAI3, DNAI4, DNAJB4, DNAJC11, DNAJC16, DNAJC6, DNAJC8, DNALI1, DNASE2B, DNM3, DNM3OS, DNTTIP2, DOCK7, DPH2, DPH5, DPM3, DPT, DPYD, DR1, DRAM2, DRAXIN, DSTYK, DTL, DUSP10, DUSP12, DUSP23, DVL1, DYNLT4, DYNLT5, DYRK3, E2F2, EBNA1BP2, ECE1, ECHDC2, ECM1, EDARADD, EDEM3, EDN2, EEIG2, EFCAB14, EFCAB2, EFCAB7, EFHD2, EFNA1, EFNA3, EFNA4, EGLN1, EIF2B3, EIF2D, EIF3I, EIF4G3, ELAPOR1, ELAVL4, ELF3, ELK4, ELOA, ELOVL1, EMC1, ENAH, ENO1, ENO1-AS1, ENSA, ENTREP3, EPB41, EPHA10, EPHA2, EPHA8, EPHB2, EPHX1, EPHX4, EPRS1, EPS15, EPS8L3, ERI3, ERICH3, ERMAP, ERO1B, ERRFI1, ESPN, ESRRG, ETNK2, ETV3, ETV3L, EVA1B, EVI5, EXO1, EXO5, EXOC8, EXOSC10, EXTL1, EXTL2, EYA3, F11R, F13B, F3, F5, FAAH, FAAP20, FABP3, FAF1, FALEC, FAM110D, FAM131C, FAM151A, FAM163A, FAM167B, FAM177B, FAM20B, FAM229A, FAM43B, FAM72A, FAM72B, FAM72C, FAM72D, FAM76A, FAM78B, FAM89A, FASLG, FBLIM1, FBXO2, FBXO28, FBXO42, FBXO44, FBXO6, FCAMR, FCER1A, FCER1G, FCGR1A, FCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, FCMR, FCN3, FCRL1, FCRL2, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FDPS, FGGY, FGR, FH, FHAD1, FHL3, FIRRM, FLAD1, FLG, FLG2, FLVCR1, FLVCR1-DT, FMN2, FMO1, FMO2, FMO3, FMO4, FMO5, FMOD, FNBP1L, FNDC10, FNDC5, FNDC7, FOXD2, FOXD3, FOXE3, FOXJ3, FOXO6, FPGT, FPGT-TNNI3K, FRRS1, FUBP1, FUCA1, FYB2, G0S2, GABPB2, GABRD, |