| - GRCh37:
- Chr1:564405-8597804
- GRCh38:
- Chr1:629025-8537745
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ERRFI1, ERRFI1-DT, ESPN, FAAP20, FAM41C, FAM87B, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01409, LINC01646, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100133331, LOC100288069, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120751, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967041, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC128505377, LRRC47, MEGF6, MIB2, MIR12136, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6723, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, OR4F16, PANK4, PARK7, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SNORD128, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:564424-7068738
- GRCh38:
- Chr1:629044-7008678
| PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ZBTB48, ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS3, CAMTA1-DT, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FAM41C, FAM87B, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01409, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100133331, LOC100288069, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967041, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC128505377, LRRC47, MEGF6, MIB2, MIR12136, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6723, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, OR4F16, PANK4, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:757093-7060898
- GRCh38:
- Chr1:821713-7000838
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-DT, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Aug 2, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:779727-7930605
- GRCh38:
- Chr1:844347-7870545
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:779727-12530188
- GRCh38:
- Chr1:844347-12470133
| ACAP3, ACOT7, ACTRT2, AGRN, AGTRAP, AJAP1, ANGPTL7, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf127, C1orf159, C1orf167, C1orf167-AS1, C1orf174, CA6, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CCDC27, CCNL2, CDK11A, CDK11B, CENPS, CENPS-CORT, CEP104, CFAP74, CHD5, CLCN6, CLSTN1, CORT, CPTP, CTNNBIP1, DFFA, DFFB, DISP3, DNAJC11, DRAXIN, DVL1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FAAP20, FAM41C, FBXO2, FBXO44, FBXO6, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, GPR157, H6PD, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KIAA2013, KIF1B, KLHL17, KLHL21, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01647, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02606, LINC02780, LINC02782, LNCTAM34A, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC106783575, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110120751, LOC110121160, LOC110121213, LOC110121223, LOC110121258, LOC110121260, LOC110599576, LOC111591499, LOC112268219, LOC112577469, LOC112577472, LOC112577486, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801415, LOC115801416, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121677386, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC128505377, LRRC47, LZIC, MAD2L2, MASP2, MEGF6, MFN2, MIB2, MIIP, MIR1273D, MIR200A, MIR200B, MIR34A, MIR34AHG, MIR4251, MIR4252, MIR429, MIR4417, MIR4632, MIR4689, MIR551A, MIR5697, MIR6726, MIR6727, MIR6728, MIR6729, MIR6808, MIR7846, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MTHFR, MTOR, MTOR-AS1, MXRA8, NADK, NMNAT1, NOC2L, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PANK4, PARK7, PER3, PERM1, PEX10, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLCH2, PLEKHG5, PLEKHN1, PLOD1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RBP7, RER1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNF223, RNU5E-1, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC25A33, SLC2A5, SLC2A7, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SNORD128, SNORD167, SPSB1, SRM, SSU72, TARDBP, TAS1R1, TAS1R3, THAP3, TMEM201, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:779727-8231974
- GRCh38:
- Chr1:844347-8171914
| LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PARK7, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48, ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ERRFI1, ERRFI1-DT, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:779727-6976647
- GRCh38:
- Chr1:844347-6916587
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-DT, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Mar 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:779727-6537496
- GRCh38:
- Chr1:844347-6477436
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DVL1, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NPHP4, PANK4, PERM1, PEX10, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:779733-6537534
- GRCh38:
- Chr1:844353-6477474
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DVL1, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NPHP4, PANK4, PERM1, PEX10, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:794595-8807706
- GRCh38:
- Chr1:859215-8747647
| MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PARK7, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SNORD128, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48, ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ERRFI1, ERRFI1-DT, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120751, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:834101-7871366
- GRCh38:
- Chr1:898721-7811306
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VAMP3, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Sep 16, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:837491-9616363
- GRCh38:
- Chr1:902111-9556305
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CA6, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, FAAP20, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, GPR157, H6PD, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02606, LINC02780, LINC02782, LNCTAM34A, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120751, LOC110121160, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC115801415, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121677386, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR34A, MIR34AHG, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6728, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PARK7, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC25A33, SLC2A5, SLC2A7, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SNORD128, SNORD167, SPSB1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Oct 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:846680-9389984
- GRCh38:
- Chr1:911300-9329925
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CA6, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, FAAP20, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, GPR157, H6PD, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LNCTAM34A, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120751, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC115801415, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121677386, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR34A, MIR34AHG, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6728, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PARK7, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC2A5, SLC2A7, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SNORD128, SNORD167, SPSB1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Nov 30, 2009) | no assertion criteria provided |
| - GRCh37:
- Chr1:849466-9627180
- GRCh38:
- Chr1:914086-9567122
| ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CA6, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, FAAP20, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, GPR157, H6PD, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02606, LINC02780, LINC02782, LNCTAM34A, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120751, LOC110121160, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC115801415, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121677386, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC128505377, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR34A, MIR34AHG, MIR4251, MIR4252, MIR429, MIR4417, MIR4689, MIR551A, MIR6726, MIR6727, MIR6728, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, NOL9, NPHP4, PANK4, PARK7, PER3, PERM1, PEX10, PHF13, PLCH2, PLEKHG5, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNF223, RPL22, SAMD11, SCNN1D, SDF4, SKI, SLC25A33, SLC2A5, SLC2A7, SLC35E2A, SLC35E2B, SLC45A1, SMIM1, SNORD128, SNORD167, SPSB1, SSU72, TAS1R1, TAS1R3, THAP3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF25, TNFRSF4, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48 | | See cases | Pathogenic (Aug 2, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr1:2761325-8068000
- GRCh38:
- Chr1:2844760-8007940
| ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, KCNAB2, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01672, LINC01777, LINC02780, LINC02782, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC120851201, LOC120851202, LOC121677384, LOC121677385, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC124903827, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC128505377, LRRC47, MEGF6, MIR4251, MIR4252, MIR4417, MIR4689, MIR551A, NOL9, NPHP4, PARK7, PER3, PHF13, PLEKHG5, PRDM16, PRDM16-DT, RNF207, RNF207-AS1, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF25, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, UTS2, VAMP3, WRAP73, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:2785042-7392629
- GRCh38:
- Chr1:2868477-7332569
| ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CAMTA1, CAMTA1-AS3, CAMTA1-DT, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, KCNAB2, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01672, LINC01777, LINC02780, LINC02782, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC120851201, LOC120851202, LOC121677384, LOC121677385, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC128505377, LRRC47, MEGF6, MIR4251, MIR4252, MIR4417, MIR4689, MIR551A, NOL9, NPHP4, PHF13, PLEKHG5, PRDM16, PRDM16-DT, RNF207, RNF207-AS1, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF25, TP73, TP73-AS1, TP73-AS3, TPRG1L, WRAP73, ZBTB48 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:2922757-18015429
- GRCh38:
- Chr1:3006193-17688934
| LINC01672, LINC01714, LINC01772, LINC01777, LINC01783, LINC01784, LINC02606, LINC02766, LINC02780, LINC02782, LINC02783, LNCTAM34A, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC106783575, LOC108281140, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110120751, LOC110121160, LOC110121213, LOC110121223, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112267871, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851201, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC120893114, LOC121677384, LOC121677385, LOC121677386, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC124903827, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC128505377, LRRC38, LRRC47, LZIC, MAD2L2, MASP2, MEGF6, MFAP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR3675, MIR3972, MIR4251, MIR4252, MIR4417, MIR4632, MIR4689, MIR551A, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NBPF1, NECAP2, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PADI1, PADI2, PADI3, PADI4, PADI6, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM16, PRDM16-DT, PRDM2, RBP7, RCC2, RCC2-AS1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RNU5E-1, RPL22, RSC1A1, SCARNA21B, SDHB, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SMIM1, SNORA59A, SNORD128, SPATA21, SPEN, SPEN-AS1, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, WRAP73, ZBTB17, ZBTB48, AADACL3, AADACL4, ACOT7, ACTRT2, AGMAT, AGTRAP, AJAP1, ANGPTL7, ARHGEF10L, ARHGEF16, ARHGEF19, ATP13A2, C1orf127, C1orf167, C1orf167-AS1, C1orf174, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CCDC27, CELA2A, CELA2B, CENPS, CENPS-CORT, CEP104, CFAP107, CHD5, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DFFB, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, EPHA2, EPHA2-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FAM131C, FAM231AP, FAM231BP, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, ICMT, ICMT-DT, KAZN, KAZN-AS1, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01647 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:3388727-7903007
- GRCh38:
- Chr1:3472163-7842947
| ACOT7, AJAP1, ARHGEF16, C1orf174, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, KCNAB2, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01672, LINC01777, LINC02780, LINC02782, LOC108281140, LOC108281186, LOC112577581, LOC112590813, LOC120851202, LOC121677384, LOC121677385, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC128505377, LRRC47, MEGF6, MIR4252, MIR4417, MIR4689, MIR551A, NOL9, NPHP4, PER3, PHF13, PLEKHG5, RNF207, RNF207-AS1, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF25, TP73, TP73-AS1, TP73-AS3, TPRG1L, VAMP3, WRAP73, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:4958499-12971757
- GRCh38:
- Chr1:4898439-12911913
| AADACL3, AADACL4, ACOT7, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DNAJC11, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, ICMT, ICMT-DT, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LINC02782, LNCTAM34A, LOC106783575, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677385, LOC121677386, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR4252, MIR4417, MIR4632, MIR4689, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, RBP7, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU5E-1, RPL22, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, ZBTB48 | | See cases | Pathogenic (Sep 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:4958499-13178528
- GRCh38:
- Chr1:4898439-13111056
| AADACL3, AADACL4, ACOT7, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DNAJC11, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL3, ICMT, ICMT-DT, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LINC02782, LNCTAM34A, LOC106783575, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677385, LOC121677386, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR4252, MIR4417, MIR4632, MIR4689, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF25, PRAMEF27, PRAMEF4, PRAMEF6, PRAMEF7, RBP7, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU5E-1, RPL22, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:5423886-18686796
- GRCh38:
- Chr1:5363826-18360302
| AADACL3, AADACL4, ACOT7, ACTL8, AGMAT, AGTRAP, ANGPTL7, ARHGEF10L, ARHGEF19, ATP13A2, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CPLANE2, CROCC, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, EPHA2, EPHA2-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FAM131C, FAM231AP, FAM231BP, FBLIM1, FBXO2, FBXO42, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, ICMT, ICMT-DT, IGSF21, IGSF21-AS1, KAZN, KAZN-AS1, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01654, LINC01672, LINC01714, LINC01772, LINC01783, LINC01784, LINC02606, LINC02766, LINC02783, LNCTAM34A, LOC102723383, LOC105376805, LOC106501712, LOC106501713, LOC106783575, LOC108281186, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112267871, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112577505, LOC112590813, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC120893114, LOC120893115, LOC121677385, LOC121677386, LOC121677387, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC122056773, LOC122056774, LOC122056775, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC126805634, LOC126805635, LOC126805636, LOC126805637, LOC126805638, LRRC38, LZIC, MAD2L2, MASP2, MFAP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR3675, MIR3972, MIR4252, MIR4417, MIR4632, MIR4689, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NBPF1, NECAP2, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PADI1, PADI2, PADI3, PADI4, PADI6, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RCC2, RCC2-AS1, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU1-1, RNU1-2, RNU1-3, RNU1-4, RNU5E-1, RPL22, RSC1A1, SCARNA21B, SDHB, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPATA21, SPEN, SPEN-AS1, SPSB1, SRARP, SRM, SZRD1, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, ZBTB17, ZBTB48 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh38:
- Chr1:6234122-6508845
| ACOT7, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, LOC121967058, LOC126805597, LOC126805598, MIR4252, PLEKHG5, TNFRSF25 | | not provided | Uncertain significance (May 29, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6363701-16125588
- GRCh38:
- Chr1:6303641-15799093
| AADACL3, AADACL4, ACOT7, AGMAT, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CLCN6, CLSTN1, CORT, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FBLIM1, FBXO2, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR157, H6PD, HES2, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, KAZN, KAZN-AS1, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LNCTAM34A, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LRRC38, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR4252, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NOL9, NPPA, NPPA-AS1, NPPB, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF16, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RERE, RERE-AS1, RNU5E-1, RSC1A1, SCARNA21B, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, ZBTB48 | | See cases | Pathogenic (Nov 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:6484675
- GRCh38:
- Chr1:6424615
| ESPN | | not provided | Benign (Nov 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484685
- GRCh38:
- Chr1:6424625
| ESPN | | not provided | Benign (Nov 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484767-6484768
- GRCh38:
- Chr1:6424707-6424708
| ESPN | | not provided | Benign (Sep 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484767-6484768
- GRCh38:
- Chr1:6424707-6424708
| ESPN | | not provided | Likely benign (Nov 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484789
- GRCh38:
- Chr1:6424729
| ESPN | | not provided | Benign (Aug 15, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484878
- GRCh38:
- Chr1:6424818
| ESPN | | not provided | Benign (Apr 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484880
- GRCh38:
- Chr1:6424820
| ESPN | | not provided | Benign (Mar 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484962
- GRCh38:
- Chr1:6424902
| ESPN | | not provided | Likely benign (Aug 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6484967
- GRCh38:
- Chr1:6424907
| ESPN | | not provided | Likely benign (Jun 5, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485003
- GRCh38:
- Chr1:6424943
| ESPN | | not provided | Likely benign (Aug 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485016
- GRCh38:
- Chr1:6424956
| ESPN | M1L | not provided | Uncertain significance (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485041
- GRCh38:
- Chr1:6424981
| ESPN | A9G | not provided | Uncertain significance (Jul 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485043
- GRCh38:
- Chr1:6424983
| ESPN | A10P | not provided | Uncertain significance (Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485051
- GRCh38:
- Chr1:6424991
| ESPN | Q12H | not provided | Uncertain significance (Apr 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6485066
- GRCh38:
- Chr1:6425006
| ESPN | | not provided | Likely benign (May 4, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6485071
- GRCh38:
- Chr1:6425011
| ESPN | R19K | not provided | Uncertain significance (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6485082
- GRCh38:
- Chr1:6425022
| ESPN | A23T | not provided | Uncertain significance (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485099
- GRCh38:
- Chr1:6425039
| ESPN | | not provided | Likely benign (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485109
- GRCh38:
- Chr1:6425049
| ESPN | R32C | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485110
- GRCh38:
- Chr1:6425050
| ESPN | R32H | not provided | Uncertain significance (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485145
- GRCh38:
- Chr1:6425085
| ESPN | A44S | not provided | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485190
- GRCh38:
- Chr1:6425130
| ESPN | A59T | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485205
- GRCh38:
- Chr1:6425145
| ESPN | A64S | not provided | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485215-6485219
- GRCh38:
- Chr1:6425155-6425159
| ESPN | | not provided | Uncertain significance (Jan 24, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485232
- GRCh38:
- Chr1:6425172
| ESPN | P73A | not provided | Uncertain significance (Oct 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485251
- GRCh38:
- Chr1:6425191
| ESPN | A79G | not provided | Uncertain significance (Feb 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485256
- GRCh38:
- Chr1:6425196
| ESPN | G81S | not provided | Uncertain significance (Oct 19, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485265
- GRCh38:
- Chr1:6425205
| ESPN | A84S | not provided | Benign (Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6485279
- GRCh38:
- Chr1:6425219
| ESPN | W88* | not provided | Pathogenic (Oct 6, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485292
- GRCh38:
- Chr1:6425232
| ESPN | G93S | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485294
- GRCh38:
- Chr1:6425234
| ESPN | | not provided | Likely benign (May 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485305
- GRCh38:
- Chr1:6425245
| ESPN | V97A | not provided | Uncertain significance (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485305
- GRCh38:
- Chr1:6425245
| ESPN | V97E | not provided | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6485307
- GRCh38:
- Chr1:6425247
| ESPN | Q98* | not provided | Likely pathogenic (Oct 9, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6485323
- GRCh38:
- Chr1:6425263
| ESPN | | not provided | Likely benign (Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488123
- GRCh38:
- Chr1:6428063
| ESPN | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488131-6488132
- GRCh38:
- Chr1:6428071-6428072
| ESPN | | not provided | Likely benign (May 30, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488328
- GRCh38:
- Chr1:6428268
| ESPN | R113C | not specified, not provided | Uncertain significance (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6488329
- GRCh38:
- Chr1:6428269
| ESPN | R113H | not provided, Inborn genetic diseases | Uncertain significance (May 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6488340
- GRCh38:
- Chr1:6428280
| ESPN | P117T | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488342
- GRCh38:
- Chr1:6428282
| ESPN | | not provided | Likely benign (Mar 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488342
- GRCh38:
- Chr1:6428282
| ESPN | | not provided | Likely benign (Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488372
- GRCh38:
- Chr1:6428312
| ESPN | | not provided | Uncertain significance (Jun 1, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488373
- GRCh38:
- Chr1:6428313
| ESPN | G128S | not provided | Uncertain significance (Dec 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488373
- GRCh38:
- Chr1:6428313
| ESPN | G128C | not specified | Uncertain significance (Nov 2, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488381
- GRCh38:
- Chr1:6428321
| ESPN | D130E | Inborn genetic diseases | Uncertain significance (Dec 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488381
- GRCh38:
- Chr1:6428321
| ESPN | D130E | not provided | Uncertain significance (Mar 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488387
- GRCh38:
- Chr1:6428327
| ESPN | | not provided | Likely benign (Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488389
- GRCh38:
- Chr1:6428329
| ESPN | A133V | not provided, Inborn genetic diseases | Conflicting interpretations of pathogenicity (May 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:6488398
- GRCh38:
- Chr1:6428338
| ESPN | D136G | not provided | Uncertain significance (Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488404
- GRCh38:
- Chr1:6428344
| ESPN | G138V | not provided | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488406
- GRCh38:
- Chr1:6428346
| ESPN | A139T | not provided | Uncertain significance (Feb 10, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488423
- GRCh38:
- Chr1:6428363
| ESPN | | not provided | Likely benign (Jun 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488429
- GRCh38:
- Chr1:6428369
| ESPN | | not provided | Likely benign (Oct 7, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488430
- GRCh38:
- Chr1:6428370
| ESPN | A147T | not specified | Uncertain significance (Sep 3, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488438
- GRCh38:
- Chr1:6428378
| ESPN | | not provided | Likely benign (Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6488442
- GRCh38:
- Chr1:6428382
| ESPN | F151I | not provided | Conflicting interpretations of pathogenicity (Aug 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr1:6488511
- GRCh38:
- Chr1:6428451
| ESPN | | not provided | Likely benign (Jun 22, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500060-6500062
- GRCh38:
- Chr1:6440000-6440002
| ESPN | | not provided | Benign (May 9, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500068-6500069
- GRCh38:
- Chr1:6440008-6440009
| ESPN | | not provided | Benign (Aug 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500145
- GRCh38:
- Chr1:6440085
| ESPN | | not provided | Benign (Nov 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500318
- GRCh38:
- Chr1:6440258
| ESPN | V165M | not provided | Uncertain significance (Oct 24, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6500329
- GRCh38:
- Chr1:6440269
| ESPN | | not provided | Benign/Likely benign (Dec 21, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6500338
- GRCh38:
- Chr1:6440278
| ESPN | | not provided | Likely benign (May 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500343
- GRCh38:
- Chr1:6440283
| ESPN | A173V | not provided | Likely benign (Nov 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500361
- GRCh38:
- Chr1:6440301
| ESPN | A179E | not provided | Uncertain significance (Aug 28, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500395
- GRCh38:
- Chr1:6440335
| ESPN | | not provided | Likely benign (Jul 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr1:6500399
- GRCh38:
- Chr1:6440339
| ESPN | V192M | not provided | Uncertain significance (Jul 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr1:6500407
- GRCh38:
- Chr1:6440347
| ESPN | E194D | not provided | Uncertain significance (Dec 21, 2021) | criteria provided, single submitter |
| |