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Items: 1 to 100 of 427

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
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 casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
4.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
6.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
7.
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 casesPathogenic
(Mar 30, 2010)
no assertion criteria provided
8.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
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 casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
10.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
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 casesPathogenic
(Sep 16, 2011)
no assertion criteria provided
12.
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 casesPathogenic
(Oct 1, 2010)
no assertion criteria provided
13.
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 casesPathogenic
(Nov 30, 2009)
no assertion criteria provided
14.
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 casesPathogenic
(Aug 2, 2013)
no assertion criteria provided
15.
GRCh37:
Chr1:2761325-8068000
GRCh38:
Chr1:2844760-8007940
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr1:2785042-7392629
GRCh38:
Chr1:2868477-7332569
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
17.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
18.
GRCh37:
Chr1:3388727-7903007
GRCh38:
Chr1:3472163-7842947
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
19.
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 casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
20.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
21.
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 casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
22.
GRCh38:
Chr1:6234122-6508845
not providedUncertain significance
(May 29, 2020)
criteria provided, single submitter
23.
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 casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
24.
GRCh37:
Chr1:6484675
GRCh38:
Chr1:6424615
ESPNnot providedBenign
(Nov 29, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr1:6484685
GRCh38:
Chr1:6424625
ESPNnot providedBenign
(Nov 29, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr1:6484767-6484768
GRCh38:
Chr1:6424707-6424708
ESPNnot providedBenign
(Sep 1, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr1:6484767-6484768
GRCh38:
Chr1:6424707-6424708
ESPNnot providedLikely benign
(Nov 7, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr1:6484789
GRCh38:
Chr1:6424729
ESPNnot providedBenign
(Aug 15, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr1:6484878
GRCh38:
Chr1:6424818
ESPNnot providedBenign
(Apr 10, 2019)
criteria provided, single submitter
30.
GRCh37:
Chr1:6484880
GRCh38:
Chr1:6424820
ESPNnot providedBenign
(Mar 31, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr1:6484962
GRCh38:
Chr1:6424902
ESPNnot providedLikely benign
(Aug 21, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr1:6484967
GRCh38:
Chr1:6424907
ESPNnot providedLikely benign
(Jun 5, 2019)
criteria provided, single submitter
33.
GRCh37:
Chr1:6485003
GRCh38:
Chr1:6424943
ESPNnot providedLikely benign
(Aug 6, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr1:6485016
GRCh38:
Chr1:6424956
ESPNM1Lnot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr1:6485041
GRCh38:
Chr1:6424981
ESPNA9Gnot providedUncertain significance
(Jul 25, 2019)
criteria provided, single submitter
36.
GRCh37:
Chr1:6485043
GRCh38:
Chr1:6424983
ESPNA10Pnot providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr1:6485051
GRCh38:
Chr1:6424991
ESPNQ12Hnot providedUncertain significance
(Apr 20, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr1:6485066
GRCh38:
Chr1:6425006
ESPNnot providedLikely benign
(May 4, 2021)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:6485071
GRCh38:
Chr1:6425011
ESPNR19Knot providedUncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:6485082
GRCh38:
Chr1:6425022
ESPNA23Tnot providedUncertain significance
(Jan 3, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr1:6485099
GRCh38:
Chr1:6425039
ESPNnot providedLikely benign
(May 28, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr1:6485109
GRCh38:
Chr1:6425049
ESPNR32CInborn genetic diseasesUncertain significance
(Aug 17, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr1:6485110
GRCh38:
Chr1:6425050
ESPNR32Hnot providedUncertain significance
(Jul 5, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr1:6485145
GRCh38:
Chr1:6425085
ESPNA44Snot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr1:6485190
GRCh38:
Chr1:6425130
ESPNA59TInborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr1:6485205
GRCh38:
Chr1:6425145
ESPNA64Snot providedUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr1:6485215-6485219
GRCh38:
Chr1:6425155-6425159
ESPNnot providedUncertain significance
(Jan 24, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr1:6485232
GRCh38:
Chr1:6425172
ESPNP73Anot providedUncertain significance
(Oct 21, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr1:6485251
GRCh38:
Chr1:6425191
ESPNA79Gnot providedUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr1:6485256
GRCh38:
Chr1:6425196
ESPNG81Snot providedUncertain significance
(Oct 19, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr1:6485265
GRCh38:
Chr1:6425205
ESPNA84Snot providedBenign
(Sep 29, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr1:6485279
GRCh38:
Chr1:6425219
ESPNW88*not providedPathogenic
(Oct 6, 2017)
criteria provided, single submitter
53.
GRCh37:
Chr1:6485292
GRCh38:
Chr1:6425232
ESPNG93Snot providedUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr1:6485294
GRCh38:
Chr1:6425234
ESPNnot providedLikely benign
(May 16, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr1:6485305
GRCh38:
Chr1:6425245
ESPNV97Anot providedUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr1:6485305
GRCh38:
Chr1:6425245
ESPNV97Enot providedBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr1:6485307
GRCh38:
Chr1:6425247
ESPNQ98*not providedLikely pathogenic
(Oct 9, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr1:6485323
GRCh38:
Chr1:6425263
ESPNnot providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr1:6488123
GRCh38:
Chr1:6428063
ESPNnot providedBenign
(Nov 11, 2018)
criteria provided, single submitter
60.
GRCh37:
Chr1:6488131-6488132
GRCh38:
Chr1:6428071-6428072
ESPNnot providedLikely benign
(May 30, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr1:6488328
GRCh38:
Chr1:6428268
ESPNR113Cnot specified, not providedUncertain significance
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:6488329
GRCh38:
Chr1:6428269
ESPNR113Hnot provided, Inborn genetic diseasesUncertain significance
(May 20, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr1:6488340
GRCh38:
Chr1:6428280
ESPNP117Tnot providedUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr1:6488342
GRCh38:
Chr1:6428282
ESPNnot providedLikely benign
(Mar 10, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr1:6488342
GRCh38:
Chr1:6428282
ESPNnot providedLikely benign
(Aug 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr1:6488372
GRCh38:
Chr1:6428312
ESPNnot providedUncertain significance
(Jun 1, 2016)
criteria provided, single submitter
67.
GRCh37:
Chr1:6488373
GRCh38:
Chr1:6428313
ESPNG128Snot providedUncertain significance
(Dec 9, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr1:6488373
GRCh38:
Chr1:6428313
ESPNG128Cnot specifiedUncertain significance
(Nov 2, 2014)
criteria provided, single submitter
69.
GRCh37:
Chr1:6488381
GRCh38:
Chr1:6428321
ESPND130EInborn genetic diseasesUncertain significance
(Dec 6, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr1:6488381
GRCh38:
Chr1:6428321
ESPND130Enot providedUncertain significance
(Mar 25, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr1:6488387
GRCh38:
Chr1:6428327
ESPNnot providedLikely benign
(Sep 20, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr1:6488389
GRCh38:
Chr1:6428329
ESPNA133Vnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(May 6, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr1:6488398
GRCh38:
Chr1:6428338
ESPND136Gnot providedUncertain significance
(Aug 18, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr1:6488404
GRCh38:
Chr1:6428344
ESPNG138Vnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr1:6488406
GRCh38:
Chr1:6428346
ESPNA139Tnot providedUncertain significance
(Feb 10, 2020)
criteria provided, single submitter
76.
GRCh37:
Chr1:6488423
GRCh38:
Chr1:6428363
ESPNnot providedLikely benign
(Jun 27, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr1:6488429
GRCh38:
Chr1:6428369
ESPNnot providedLikely benign
(Oct 7, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr1:6488430
GRCh38:
Chr1:6428370
ESPNA147Tnot specifiedUncertain significance
(Sep 3, 2013)
criteria provided, single submitter
79.
GRCh37:
Chr1:6488438
GRCh38:
Chr1:6428378
ESPNnot providedLikely benign
(Oct 17, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr1:6488442
GRCh38:
Chr1:6428382
ESPNF151Inot providedConflicting interpretations of pathogenicity
(Aug 2, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr1:6488511
GRCh38:
Chr1:6428451
ESPNnot providedLikely benign
(Jun 22, 2020)
criteria provided, single submitter
82.
GRCh37:
Chr1:6500060-6500062
GRCh38:
Chr1:6440000-6440002
ESPNnot providedBenign
(May 9, 2019)
criteria provided, single submitter
83.
GRCh37:
Chr1:6500068-6500069
GRCh38:
Chr1:6440008-6440009
ESPNnot providedBenign
(Aug 21, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr1:6500145
GRCh38:
Chr1:6440085
ESPNnot providedBenign
(Nov 11, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr1:6500318
GRCh38:
Chr1:6440258
ESPNV165Mnot providedUncertain significance
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:6500329
GRCh38:
Chr1:6440269
ESPNnot providedBenign/Likely benign
(Dec 21, 2018)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:6500338
GRCh38:
Chr1:6440278
ESPNnot providedLikely benign
(May 7, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr1:6500343
GRCh38:
Chr1:6440283
ESPNA173Vnot providedLikely benign
(Nov 21, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr1:6500361
GRCh38:
Chr1:6440301
ESPNA179Enot providedUncertain significance
(Aug 28, 2020)
criteria provided, single submitter
90.
GRCh37:
Chr1:6500395
GRCh38:
Chr1:6440335
ESPNnot providedLikely benign
(Jul 26, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr1:6500399
GRCh38:
Chr1:6440339
ESPNV192Mnot providedUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr1:6500407
GRCh38:
Chr1:6440347
ESPNE194Dnot providedUncertain significance
(Dec 21, 2021)
criteria provided, single submitter
93.