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Items: 78

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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 casesPathogenic
(Mar 26, 2013)
no assertion criteria provided
5.
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 specifiedUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr1:76007120-76540569
GRCh38:
Chr1:75541435-76074884
Medium-chain acyl-coenzyme A dehydrogenase deficiencyPathogenic
(Jun 2, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr1:76262707
GRCh38:
Chr1:75797022
MSH4A13TInborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr1:76262741
GRCh38:
Chr1:75797056
MSH4R24Lnot providedUncertain significance
(Oct 1, 2023)
criteria provided, single submitter
9.
GRCh37:
Chr1:76262759
GRCh38:
Chr1:75797074
MSH4R30PInborn genetic diseasesUncertain significance
(Aug 22, 2023)
criteria provided, single submitter
10.
GRCh37:
Chr1:76262759
GRCh38:
Chr1:75797074
MSH4R30LInborn genetic diseasesUncertain significance
(Oct 29, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr1:76262762
GRCh38:
Chr1:75797077
MSH4Y31CInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr1:76262773
GRCh38:
Chr1:75797088
MSH4L35IInborn genetic diseasesUncertain significance
(Dec 21, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr1:76262790
GRCh38:
Chr1:75797105
MSH4Q40HInborn genetic diseasesUncertain significance
(Nov 30, 2021)
criteria provided, single submitter
14.
GRCh37:
Chr1:76262837
GRCh38:
Chr1:75797152
MSH4T56MInborn genetic diseasesUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr1:76262893
GRCh38:
Chr1:75797208
MSH4P75TInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
16.
GRCh37:
Chr1:76269416
GRCh38:
Chr1:75803731
MSH4G82AInborn genetic diseasesUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr1:76269460
GRCh38:
Chr1:75803775
MSH4A97TPremature ovarian failure 20, Spermatogenic failure 2Benign
(Apr 11, 2023)
criteria provided, single submitter
18.
GRCh37:
Chr1:76276418
GRCh38:
Chr1:75810733
MSH4I209VInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr1:76280744
GRCh38:
Chr1:75815059
MSH4N246KInborn genetic diseasesUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr1:76280766
GRCh38:
Chr1:75815081
MSH4I254VInborn genetic diseasesUncertain significance
(Mar 31, 2023)
criteria provided, single submitter
21.
GRCh37:
Chr1:76280811-76280818
GRCh38:
Chr1:75815126-75815133
MSH4V269fsSpermatogenic failure 2Pathogenic
(Jul 1, 2022)
no assertion criteria provided
22.
GRCh37:
Chr1:76288129
GRCh38:
Chr1:75822444
MSH4T342IGenetic non-acquired premature ovarian failureLikely pathogenic
(Oct 1, 2019)
no assertion criteria provided
23.
GRCh37:
Chr1:76288137
GRCh38:
Chr1:75822452
MSH4P345AInborn genetic diseasesUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr1:76288167
GRCh38:
Chr1:75822482
MSH4I355VGenetic non-acquired premature ovarian failureLikely pathogenic
(Oct 1, 2019)
no assertion criteria provided
25.
GRCh37:
Chr1:76333230
GRCh38:
Chr1:75867545
MSH4L421SInborn genetic diseasesUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr1:76342670
GRCh38:
Chr1:75876985
MSH4S452YInborn genetic diseasesUncertain significance
(Sep 14, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr1:76343916
GRCh38:
Chr1:75878231
MSH4Q485*Non-obstructive azoospermiaLikely pathogenic
(Jan 7, 2020)
criteria provided, single submitter
28.
GRCh37:
Chr1:76343943
GRCh38:
Chr1:75878258
MSH4I494Vnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr1:76344011
GRCh38:
Chr1:75878326
MSH4Premature ovarian failure 20, Spermatogenic failure 2Benign
(Apr 11, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr1:76344688
GRCh38:
Chr1:75879003
MSH4Spermatogenic failure 2Pathogenic
(Jul 1, 2022)
no assertion criteria provided
31.
GRCh37:
Chr1:76344705
GRCh38:
Chr1:75879020
MSH4Premature ovarian failure 20, Spermatogenic failure 2Benign
(Apr 11, 2023)
criteria provided, single submitter
32.
GRCh37:
Chr1:76344711
GRCh38:
Chr1:75879026
MSH4Spermatogenic failure 2, Premature ovarian failure 20Benign
(Apr 11, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr1:76344740
GRCh38:
Chr1:75879055
MSH4R535QInborn genetic diseasesUncertain significance
(Feb 27, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr1:76345741
GRCh38:
Chr1:75880056
MSH4Non-obstructive azoospermiaLikely pathogenic
(Jan 7, 2020)
criteria provided, single submitter
35.
GRCh37:
Chr1:76345823
GRCh38:
Chr1:75880138
MSH4Y589Cnot providedBenign
(Jul 1, 2023)
criteria provided, single submitter
36.
GRCh37:
Chr1:76346920-76346921
GRCh38:
Chr1:75881235-75881236
MSH4Spermatogenic failure 2, Premature ovarian failure 20Benign
(Apr 11, 2023)
criteria provided, single submitter
37.
GRCh37:
Chr1:76346931
GRCh38:
Chr1:75881246
MSH4M594IInborn genetic diseasesUncertain significance
(Mar 1, 2023)
criteria provided, single submitter
38.
GRCh37:
Chr1:76347004
GRCh38:
Chr1:75881319
MSH4M619VGenetic non-acquired premature ovarian failureLikely pathogenic
(Oct 1, 2019)
no assertion criteria provided
39.
GRCh37:
Chr1:76347063
GRCh38:
Chr1:75881378
MSH4not providedBenign
(Jun 21, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr1:76349349
GRCh38:
Chr1:75883664
MSH4W650*Spermatogenic failure 2Pathogenic
(Jul 1, 2022)
no assertion criteria provided
41.
GRCh37:
Chr1:76349353
GRCh38:
Chr1:75883668
MSH4P652SInborn genetic diseasesUncertain significance
(May 23, 2023)
criteria provided, single submitter
42.
GRCh37:
Chr1:76354983
GRCh38:
Chr1:75889298
MSH4I719VInborn genetic diseasesUncertain significance
(Jul 25, 2023)
criteria provided, single submitter
43.
GRCh37:
Chr1:76355007
GRCh38:
Chr1:75889322
MSH4D727fsSpermatogenic failure 2Pathogenic
(Jul 1, 2022)
no assertion criteria provided
44.
GRCh37:
Chr1:76355023
GRCh38:
Chr1:75889338
MSH4N732IInborn genetic diseasesUncertain significance
(Jan 4, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:76355026
GRCh38:
Chr1:75889341
MSH4S733*Non-obstructive azoospermiaLikely pathogenic
(Jan 7, 2020)
criteria provided, single submitter
46.
GRCh37:
Chr1:76355048-76355051
GRCh38:
Chr1:75889363-75889366
MSH4K741fsSpermatogenic failure 2, Genetic non-acquired premature ovarian failurePathogenic
(Jul 1, 2022)
no assertion criteria provided
47.
GRCh37:
Chr1:76356415
GRCh38:
Chr1:75890730
MSH4S754LNon-obstructive azoospermia, Premature ovarian insufficiency, Oligozoospermia
Pathogenic/Likely pathogenic
(May 24, 2021)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:76356510
GRCh38:
Chr1:75890825
MSH4Premature ovarian failure 20Pathogenic
(Jul 1, 2022)
no assertion criteria provided
49.
GRCh37:
Chr1:76363610
GRCh38:
Chr1:75897925
MSH4T792AGenetic non-acquired premature ovarian failureLikely pathogenic
(Oct 1, 2019)
no assertion criteria provided
50.
GRCh37:
Chr1:76363611
GRCh38:
Chr1:75897926
MSH4T792IInborn genetic diseasesUncertain significance
(Aug 2, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr1:76363707
GRCh38:
Chr1:75898022
MSH4K824TInborn genetic diseasesUncertain significance
(Feb 8, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr1:76363756
GRCh38:
Chr1:75898071
MSH4E840Dnot providedLikely benignno assertion criteria provided
53.
GRCh37:
Chr1:76365333
GRCh38:
Chr1:75899648
MSH4P854LInborn genetic diseasesUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:76365357
GRCh38:
Chr1:75899672
MSH4K862RInborn genetic diseasesUncertain significance
(Jun 13, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr1:76378427
GRCh38:
Chr1:75912742
MSH4Y889FInborn genetic diseasesUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr1:76378489
GRCh38:
Chr1:75912804
MSH4R910*Genetic non-acquired premature ovarian failurePathogenic
(Oct 1, 2019)
no assertion criteria provided
57.
GRCh37:
Chr1:68180293-92731957
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr1:66868168-77106425
not providedPathogenic
(Apr 27, 2017)
no assertion criteria provided
59.
GRCh37:
Chr1:67851233-86101340
not providedPathogenic
(May 23, 2018)
no assertion criteria provided
60.
GRCh37:
Chr1:66085524-88429789
not providednot providedno assertion provided
61.
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 delayUncertain significance
(Apr 4, 2019)
no assertion criteria provided
62.
GRCh37:
Chr1:71410579-78131158
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr1:76351727-76357500
MSH4not providedBenign
(Nov 3, 2010)
no assertion criteria provided
64.
GRCh37:
Chr1:76342180-76383297
MSH4not providedBenign
(Feb 21, 2012)
no assertion criteria provided
65.
GRCh37:
Chr1:76177994-76311291
RABGGTB, MSH4, ACADMnot providedBenign
(Oct 11, 2011)
no assertion criteria provided
66.
GRCh37:
Chr1:75830438-76378738
MSH4, SLC44A5, ACADM, RABGGTBnot providedBenign
(Jan 16, 2013)
no assertion criteria provided
67.
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, GADD45A, GALE, GALNT2, GARIN4, GAS5, GATAD2B, GBA1, GBP1, GBP2, GBP3, GBP4, GBP5, GBP6, GBP7, GCLM, GCSAML, GDAP2, GFI1, GGPS1, GIPC2, GJA4, GJA5, GJA8, GJA9, GJB3, GJB4, GJB5, GJC2, GLIS1, GLMN, GLMP, GLRX2, GLUL, GMEB1, GNAI3, GNAT2, GNB1, GNG12, GNG4, GNG5, GNL2, GNPAT, GOLPH3L, GOLT1A, GON4L, GORAB, GPA33, GPATCH2, GPATCH3, GPATCH4, GPBP1L1, GPN2, GPR137B, GPR153, GPR157, GPR161, GPR25, GPR3, GPR37L1, GPR52, GPR61, GPR88, GPR89A, GPR89B, GPSM2, GPX7, GREM2, GRHL3, GRIK3, GSTM1, GSTM2, GSTM3, GSTM4, GSTM5, GTF2B, GUCA2A, GUCA2B, GUK1, H2AC18, H2AC19, H2AC20, H2AC21, H2AC25, H2BC18, H2BC21, H2BC26, H3-3A, H3-4, H3C13, H3C14, H3C15, H4C14, H4C15, H6PD, HAO2, HAPLN2, HAX1, HCN3, HCRTR1, HDAC1, HDGF, HEATR1, HECTD3, HENMT1, HES2, HES3, HES4, HES5, HEYL, HFM1, HHAT, HHIPL2, HIPK1, HIVEP3, HJV, HLX, HMCN1, HMGB4, HMGCL, HMGCS2, HMGN2, HNRNPCL1, HNRNPCL2, HNRNPR, HNRNPU, HOOK1, HORMAD1, HP1BP3, HPCA, HPCAL4, HPDL, HRNR, HS2ST1, HSD11B1, HSD17B7, HSD3B1, HSD3B2, HSPA6, HSPB7, HSPG2, HTR1D, HTR6, HYI, IARS2, IBA57, ICMT, ID3, IER5, IFFO2, IFI16, IFI44, IFI44L, IFI6, IFNLR1, IFT25, IGFN1, IGSF21, IGSF3, IGSF8, IGSF9, IKBKE, IKBKE-AS1, IL10, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, IL6R, ILDR2, ILF2, INAVA, INKA2, INPP5B, INSL5, INSRR, INTS11, INTS3, INTS7, IPO13, IPO9, IPP, IQCC, IQGAP3, IRF2BP2, IRF6, ISG15, ISG20L2, ITGA10, ITGB3BP, ITLN1, ITLN2, ITPKB, IVL, IVNS1ABP, JAK1, JMJD4, JTB, JUN, KANK4, KAZN, KCNA10, KCNA2, KCNA3, KCNAB2, KCNC4, KCND3, KCNH1, KCNJ10, KCNJ9, KCNK1, KCNK2, KCNN3, KCNQ4, KCNT2, KCTD3, KDF1, KDM1A, KDM4A, KDM5B, KHDC4, KHDRBS1, KIAA0040, KIAA0319L, KIAA0754, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIF2C, KIFAP3, KIRREL1, KIRREL1-IT1, KISS1, KLF17, KLHDC7A, KLHDC8A, KLHDC9, KLHL12, KLHL17, KLHL20, KLHL21, KMO, KNCN, KPLCE, KPNA6, KPRP, KRTCAP2, KTI12, KYAT3, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR2, LAMTOR5, LAPTM5, LAX1, LBR, LCE1A, LCE1B, LCE1C, LCE1D, LCE1E, LCE1F, LCE2A, LCE2B, LCE2C, LCE2D, LCE3A, LCE3B, LCE3C, LCE3D, LCE3E, LCE4A, LCE5A, LCE6A, LCK, LDLRAD1, LDLRAD2, LDLRAP1, LEFTY1, LEFTY2, LELP1, LEMD1, LENEP, LEPR, LEPROT, LGALS8, LGR6, LHX4, LHX8, LHX9, LIN28A, LIN9, LINC00538, LINC00853, LINC01649, LINC01783, LINC02897, LINGO4, LIX1L, LMNA, LMO4, LMOD1, LMX1A, LNCATV, LOC101927434, LOC101928034, LORICRIN, LPAR3, LPGAT1, LRIF1, LRIG2, LRP8, LRRC38, LRRC39, LRRC40, LRRC41, LRRC42, LRRC47, LRRC52, LRRC7, LRRC71, LRRC8B, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LSM10, LURAP1, LUZP1, LY9, LYPD8, LYPLA2, LYPLAL1, LYSMD1, LYST, LZIC, MAB21L3, MACF1, MACO1, MAD2L2, MAEL, MAGI3, MAGOH, MAN1A2, MAN1C1, MANEAL, MAP10, MAP1LC3C, MAP3K21, MAP3K6, MAP7D1, MAPKAPK2, MARCKSL1, MARK1, MASP2, MAST2, MATN1, MCL1, MCOLN2, MCOLN3, MDM4, MDS2, MEAF6, MECR, MED18, MED8, MEF2D, MEGF6, METTL13, METTL18, METTL25B, MEX3A, MFAP2, MFN2, MFSD14A, MFSD2A, MFSD4A, MGST3, MIA3, MIB2, MICOS10, MICOS10-NBL1, MIER1, MIGA1, MIIP, MINDY1, MIR101-1, MIR137, MIR181A1, MIR181B1, MIR194-1, MIR197, MIR199A2, MIR200A, MIR200B, MIR205, MIR205HG, MIR214, MIR215, MIR29B2CHG, MIR29C, MIR30C1, MIR3120, MIR34A, MIR429, MIR551A, MIR9-1, MIR9-1HG, MIXL1, MKNK1, MLLT11, MMACHC, MMEL1, MMP23B, MNDA, MOB3C, MORN1, MOV10, MPC2, MPL, MPZ, MPZL1, MR1, MROH7, MROH9, MRPL20, MRPL24, MRPL37, MRPL55, MRPL9, MRPS14, MRPS15, MRPS21, MRTO4, MSH4, MSTO1, MT1HL1, MTARC1, MTARC2, MTF1, MTF2, MTFR1L, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUL1, MUTYH, MXRA8, MYBPH, MYBPHL, MYCBP, MYCL, MYOC, MYOG, MYOM3, MYSM1, NADK, NASP, NAV1, NAXE, NBL1, NBPF1, NBPF10, NBPF11, NBPF12, NBPF15, NBPF3, NBPF4, NBPF6, NBPF8, NBPF9, NCDN, NCF2, NCMAP, NCSTN, NDC1, NDUFS2, NDUFS5, NECAP2, NECTIN4, NEGR1, NEGR1-IT1, NEK2, NEK7, NENF, NES, NEXN, NFASC, NFIA, NFYC, NGF, NHLH1, NHLH2, NHSL3, NIBAN1, NID1, NIPAL3, NIT1, NKAIN1, NLRP3, NME7, NMNAT1, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2, NOTCH2NLA, NPHP4, NPHS2, NPL, NPPA, NPPB, NPR1, NR0B2, NR1I3, NR5A2, NRAS, NRDC, NSL1, NSUN4, NT5C1A, NTMT2, NTNG1, NTPCR, NTRK1, NUAK2, NUCKS1, NUDC, NUDT17, NUF2, NUP133, NUP210L, NVL, OAZ3, OBSCN, OCLM, ODF2L, ODR4, OLFM3, OLFML2B, OLFML3, OMA1, OPN3, OPRD1, OPTC, OR10J1, OR10J3, OR10J5, OR10K1, OR10K2, OR10R2, OR10T2, OR10X1, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L13, OR2L2, OR2L3, OR2L5, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T1, OR2T10, OR2T11, OR2T12, OR2T2, OR2T27, OR2T29, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T5, OR2T6, OR2T8, OR2W3, OR4F16, OR4F29, OR6F1, OR6K2, OR6K3, OR6K6, OR6N1, OR6N2, OR6P1, OR6Y1, ORC1, OSBPL9, OSCP1, OTUD3, OTUD7B, OVGP1, OXCT2, P3H1, PABPC4, PABPC4-AS1, PACC1, PADI1, PADI2, PADI3, PADI4, PADI6, PAFAH2, PALMD, PANK4, PAPPA2, PAQR6, PAQR7, PARK7, PARP1, PARS2, PATJ, PAX7, PBX1, PBXIP1, PCAT6, PCNX2, PCP4L1, PCSK9, PDC, PDE4B, PDE4DIP, PDIK1L, PDPN, PDZK1, PDZK1IP1, PEA15, PEAR1, PEF1, PER3, PEX10, PEX11B, PEX14, PEX19, PFDN2, PFKFB2, PGBD2, PGBD5, PGD, PGLYRP3, PGLYRP4, PGM1, PHACTR4, PHC2, PHF13, PHGDH, PHLDA3, PHTF1, PI4KB, PIAS3, PIGC, PIGK, PIGM, PIGR, PIGV, PIK3C2B, PIK3CD, PIK3R3, PINK1, PIP5K1A, PITHD1, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHM2, PLEKHN1, PLEKHO1, PLK3, PLOD1, PLPP3, PLPPR4, PLXNA2, PM20D1, PMF1, PMF1-BGLAP, PMVK, PNRC2, PODN, POGK, POGZ, POLR3C, POLR3GL, POMGNT1, POU2F1, POU3F1, PPCS, PPFIA4, PPIAL4A, PPIAL4C, PPIAL4D, PPIAL4E, PPIAL4F, PPIAL4G, PPIE, PPIH, PPM1J, PPOX, PPP1R12B, PPP1R15B, PPP1R8, PPP2R5A, PPT1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF22, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRCC, PRDM16, PRDM2, PRDX1, PRDX6, PRELP, PRG4, PRKAA2, PRKAB2, PRKACB, PRKCZ, PRMT6, PROK1, PROX1, PRPF3, PRPF38A, PRPF38B, PRR9, PRRC2C, PRRX1, PRSS38, PRUNE1, PRXL2B, PSEN2, PSMA5, PSMB2, PSMB4, PSMD4, PSRC1, PTAFR, PTBP2, PTCH2, PTGER3, PTGFR, PTGFRN, PTGS2, PTP4A2, PTPN14, PTPN22, PTPN7, PTPRC, PTPRF, PTPRU, PUM1, PUSL1, PYCR2, PYGO2, PYHIN1, QSOX1, RAB13, RAB25, RAB29, RAB3B, RAB3GAP2, RAB42, RAB4A, RABGAP1L, RABGGTB, RABIF, RAD54L, RALGPS2, RAP1A, RAP1GAP, RASAL2, RASSF5, RAVER2, RBBP4, RBBP5, RBM15, RBM34, RBM8A, RBMXL1, RBP7, RC3H1, RCAN3, RCC1, RCC2, RCOR3, RCSD1, RD3, REG4, REN, RER1, RERE, RFX5, RGL1, RGS1, RGS13, RGS16, RGS18, RGS2, RGS21, RGS4, RGS5, RGS7, RGS8, RGSL1, RHBDL2, RHBG, RHCE, RHD, RHEX, RHOC, RHOU, RIIAD1, RIMKLA, RIMS3, RIT1, RLF, RNASEL, RNF11, RNF115, RNF186, RNF187, RNF19B, RNF2, RNF207, RNF220, RNF223, RNPC3, RNPEP, RNU1-4, RO60, ROR1, RORC, RPA2, RPAP2, RPE65, RPF1, RPL11, RPL22, RPL5, RPRD2, RPS27, RPS6KA1, RPS6KC1, RPS8, RPTN, RRAGC, RRP15, RSBN1, RSC1A1, RSPO1, RSRP1, RTCA, RUNX3, RUSC1, RUSC1-AS1, RWDD3, RXFP4, RXRG, RYR2, S100A1, S100A10, S100A11, S100A12, S100A13, S100A14, S100A16, S100A2, S100A3, S100A4, S100A5, S100A6, S100A7, S100A7A, S100A8, S100A9, S100PBP, S1PR1, SAMD11, SAMD13, SARS1, SASS6, SCAMP3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC16A1, SLC16A4, SLC19A2, SLC1A7, SLC22A15, SLC25A24, SLC25A33, SLC25A34, SLC25A44, SLC26A9, SLC27A3, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
68.
GRCh37:
Chr1:47851-249228449
SLC16A1, SLC16A4, SNRNP40, STX6, STXBP3, TEX35, TEX38, TNFRSF8, TNFRSF9, TNFSF18, TYW3, WLS, ZNF670, ZNF672, AGBL4, AGL, AGMAT, APCS, ZNF678, ZNF683, ZNF697, ZNHIT6, ZP4, ZRANB2, ZRANB2-DT, ZSCAN20, ZNF684, ZNF695, ZNF687, ZNF691, ZNF692, WNT2B, YIPF1, YOD1, XCL2, XKR8, XPR1, WNT3A, WNT4, WNT9A, UBAP2L, UBE2Q1, UBE2T, WRAP73, XCL1, UAP1, UBE2U, UBE4B, UBIAD1, UBL4B, UBE2J2, UBQLN4, UBR4, UBXN10, TNNI3K, TRE-TTC3-1, TNFSF4, TNN, TNNI1, TOR1AIP2, TOR3A, TP53BP2, YARS1, YBX1, TRAF5, TRAPPC3, TRG-CCC1-1, TRH-GTG2-1, TINAGL1, TIPRL, TLCD4, TLR5, THEMIS2, THRAP3, TIE1, TIMM17A, TGFB2, TGFBR3, THAP3, TRIM11, TRIM17, TEX46, TFAP2E, TFB2M, THBS3, THEM4, SVBP, SWT1, SYCP1, SYDE2, SYF2, SYNC, SYPL2, SUCO, SUSD4, THEM5, STYXL2, SV2A, SORT1, SPATA1, SPATA17, SPATA21, SNX7, SOAT1, SOX13, SPAG17, SYT11, SYT14, SYT2, SNRPE, SNX27, SPATA45, SPATA46, SLC1A7, SLC25A24, SLC26A9, SLC22A15, SLC25A33, SPATA6, SLC19A2, SLC25A34, SLC25A44, SASS6, SCAMP3, S100A8, S100A9, S100PBP, S100A5, S100A6, S100A7, S100A7A, S1PR1, SAMD11, SAMD13, SLC27A3, S100A4, SARS1, S100A3, SCCPDH, SCMH1, SCNM1, SCNN1D, SCP2, SCYL3, SDC3, SDCCAG8, SDE2, SDF4, SDHB, SDHC, SEC16B, SELE, SELENBP1, SELENOF, SELENON, SELL, SELP, SEMA4A, SEMA6C, SERBP1, SERINC2, SERPINC1, SERTAD4, SESN2, SETDB1, SF3A3, SF3B4, SFN, SFPQ, SFT2D2, SGIP1, SH2D1B, SH2D2A, SH2D5, SH3BGRL3, SH3BP5L, SH3D21, SH3GLB1, SHC1, SHCBP1L, SHE, SHISA4, SHISAL2A, SIKE1, SIPA1L2, SKI, SLAMF1, SLAMF6, SLAMF7, SLAMF8, SLAMF9, SLC2A1, SLC2A5, SLC2A7, SLC30A1, SLC30A10, SLC30A2, SLC30A7, SLC35A3, SLC35D1, SLC35E2A, SLC35E2B, SLC35F3, SLC39A1, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC45A3, SLC50A1, SLC5A9, SLC66A1, SLC6A17, SLC6A9, SLC9A1, SLC9C2, SLFNL1, SMAP2, SMCP, SMG5, SMG7, SMIM1, SMIM12, SMPDL3B, SMYD2, SMYD3, SNAP47, SNAPIN, SNHG28, SNHG3, SNIP1, SNORA73A, SNORD21, SPEN, SPHAR, SPMIP3, SPOCD1, SPRR1A, SPRR1B, SPRR2A, SPRR2B, SPRR2D, SPRR2E, SPRR2F, SPRR2G, SPRR3, SPRR4, SPRTN, SPSB1, SPTA1, SRARP, SRGAP2, SRGAP2B, SRGAP2C, SRM, SRP9, SRRM1, SRSF10, SRSF11, SRSF4, SSBP3, SSR2, SSU72, SSX2IP, ST3GAL3, ST6GALNAC3, ST6GALNAC5, ST7L, STIL, STK40, STMN1, STPG1, STRIP1, STUM, STX12, SYT6, SYTL1, SZRD1, SZT2, TACSTD2, TADA1, TAF12, TAF13, TAF1A, TAF5L, TAFA3, TAGLN2, TAL1, TARBP1, TARDBP, TARS2, TAS1R1, TAS1R2, TAS1R3, TATDN3, TBCE, TBX15, TBX19, TCEA3, TCEANC2, TCHH, TCHHL1, TDRD10, TDRD5, TDRKH, TEDDM1, TEKT2, TENT5B, TENT5C, TENT5C-DT, TESK2, TM2D1, TMCC2, TMCO1, TMCO2, TMCO4, TMED5, TMEM125, TMEM167B, TMEM183A, TMEM200B, TMEM201, TMEM222, TMEM234, TMEM240, TMEM35B, TMEM39B, TMEM50A, TMEM51, TMEM52, TMEM53, TMEM54, TMEM59, TMEM61, TMEM63A, TMEM69, TMEM79, TMEM81, TMEM82, TMEM88B, TMEM9, TMOD4, TNFAIP8L2, TNFRSF14, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNNT2, TNR, TOE1, TOMM20, TOMM40L, TOR1AIP1, TP73, TPM3, TPR, TPRG1L, TRABD2B, TRAF3IP3, TRIM33, TRIM45, TRIM46, TRIM58, TRIM62, TRIM63, TRIM67, TRIT1, TRMT13, TRMT1L, TRN-GTT2-7, TRNAU1AP, TRNP1, TRQ-CTG14-1, TSACC, TSEN15, TSHB, TSNAX, TSPAN1, TSPAN2, TSSK3, TSTD1, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TTLL7, TUFT1, TUT4, TXLNA, TXNDC12, TXNIP, UBXN11, UCHL5, UCK2, UFC1, UHMK1, UQCRH, URB2, UROD, USF1, USH2A, USP1, USP21, USP24, USP33, USP48, UTP11, UTP25, UTS2, VAMP3, VAMP4, VANGL1, VANGL2, VASH2, VAV3, VCAM1, VHLL, VN1R5, VPS13D, VPS45, VPS72, VSIG8, VTCN1, VWA1, VWA5B1, WARS2, WASF2, WDR26, WDR3, WDR47, WDR64, WDR77, WDTC1, YRDC, YTHDF2, YY1AP1, ZBED6, ZBTB17, ZBTB18, ZBTB37, ZBTB40, ZBTB41, ZBTB48, ZBTB7B, ZBTB8A, ZBTB8B, ZBTB8OS, ZC3H11A, ZC3H12A, ZCCHC17, ZDHHC18, ZFP69, ZFP69B, ZFYVE9, ZMPSTE24, ZMYM1, ZMYM4, ZMYM6, ZMYND12, ZNF124, ZNF281, ZNF326, ZNF362, ZNF436, ZNF496, ZNF593, ZNF644, ZNF648,