RERE[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 582421.	GRCh38/hg38 1p36.33-36.23(chr1:629025-8537745)x1 GRCh37: Chr1:564405-8597804 GRCh38: Chr1:629025-8537745	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, 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, 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		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1475212.	GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1 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, 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
Select item 582943.	GRCh38/hg38 1p36.33-36.23(chr1:859215-8747647)x1 GRCh37: Chr1:794595-8807706 GRCh38: Chr1:859215-8747647	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, 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, 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		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1530784.	GRCh38/hg38 1p36.33-36.22(chr1:902111-9556305)x1 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, 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
Select item 1545485.	GRCh38/hg38 1p36.33-36.22(chr1:911300-9329925)x1 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, 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
Select item 1536636.	GRCh38/hg38 1p36.33-36.22(chr1:914086-9567122)x1 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, 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
Select item 598467.	GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1 GRCh37: Chr1:2922757-18015429 GRCh38: Chr1:3006193-17688934	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, LINC01672, LINC01714, LINC01772, LINC01777, LINC01783, LINC01784, LINC02606, LINC02766, 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		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1483878.	GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1 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
Select item 598569.	GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1 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
Select item 15470410.	GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1 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
Select item 14888511.	GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1 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
Select item 15483912.	GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3 GRCh37: Chr1:6614945-16382506 GRCh38: Chr1:6554885-16056011	AADACL3, AADACL4, 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, CLCNKA, CLCNKB, CLSTN1, CORT, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, EXOSC10, EXOSC10-AS1, FBLIM1, FBXO2, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR157, H6PD, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, KAZN, KAZN-AS1, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LNCTAM34A, LOC106501712, LOC106501713, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, 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, 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, LRRC38, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1, NPPB, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, 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, SPEN, SPEN-AS1, SPSB1, SRARP, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, ZBTB17, ZBTB48		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 5805113.	GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3 GRCh37: Chr1:6712399-12784811 GRCh38: Chr1:6652339-12724844	AADACL3, AADACL4, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DNAJC11, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR157, H6PD, KIAA2013, KIF1B, LINC01647, LINC01672, LINC01714, LINC02606, LINC02766, LNCTAM34A, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLOD1, RBP7, RERE, RERE-AS1, RNU5E-1, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15463914.	GRCh38/hg38 1p36.31-36.23(chr1:6763143-8367573)x1 GRCh37: Chr1:6823203-8427633 GRCh38: Chr1:6763143-8367573	CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, ERRFI1, ERRFI1-DT, LINC01714, LOC108281189, LOC110121213, LOC112590821, LOC112590822, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, PARK7, PER3, RERE, SLC45A1, TNFRSF9, UTS2, VAMP3		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 5988415.	GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 GRCh37: Chr1:7225096-13178528 GRCh38: Chr1:7165036-13111056	NPPB, PARK7, PER3, PEX14, PGD, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF25, PRAMEF27, PRAMEF4, PRAMEF6, PRAMEF7, RBP7, RERE, RERE-AS1, RNU5E-1, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, AADACL3, AADACL4, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CFAP107, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR157, H6PD, HNRNPCL1, HNRNPCL3, KIAA2013, KIF1B, LINC01647, LINC01714, LINC01784, LINC02606, LINC02766, LNCTAM34A, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, 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, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14653516.	GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1 GRCh37: Chr1:8343754-12530188 GRCh38: Chr1:8283694-12470133	AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DISP3, DRAXIN, ENO1, ENO1-AS1, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR157, H6PD, KIAA2013, KIF1B, LINC01647, LINC02606, LNCTAM34A, LOC106783575, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC121677386, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR1273D, MIR34A, MIR34AHG, MIR4632, MIR5697, MIR6728, MIR6729, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1, NPPB, PEX14, PGD, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLOD1, RBP7, RERE, RERE-AS1, RNU5E-1, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORD128, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, UBE4B, UBIAD1, VPS13D		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 207048217.	NM_001042681.2(RERE):c.4671A>C (p.Arg1557_Leu1558=) GRCh37: Chr1:8415177 GRCh38: Chr1:8355117	RERE		not provided	Benign (Jun 15, 2022)	criteria provided, single submitter
Select item 216377118.	NM_001042681.2(RERE):c.4668-5T>C GRCh37: Chr1:8415185 GRCh38: Chr1:8355125	RERE		not provided	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 162209819.	NM_001042681.2(RERE):c.4668-15G>A GRCh37: Chr1:8415195 GRCh38: Chr1:8355135	RERE		not provided	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 163647820.	NM_001042681.2(RERE):c.4638C>T (p.Gly1546=) GRCh37: Chr1:8415508 GRCh38: Chr1:8355448	RERE		not provided	Likely benign (Mar 29, 2021)	criteria provided, single submitter
Select item 180479221.	NM_001042681.2(RERE):c.4626C>A (p.His1542Gln) GRCh37: Chr1:8415520 GRCh38: Chr1:8355460	RERE	H1542Q, H988Q	not specified	Uncertain significance (Nov 21, 2022)	criteria provided, single submitter
Select item 227088622.	NM_001042681.2(RERE):c.4624C>T (p.His1542Tyr) GRCh37: Chr1:8415522 GRCh38: Chr1:8355462	RERE	H988Y, H1542Y	Inborn genetic diseases	Uncertain significance (Jan 7, 2022)	criteria provided, single submitter
Select item 169060723.	NM_001042681.2(RERE):c.4620C>G (p.His1540Gln) GRCh37: Chr1:8415526 GRCh38: Chr1:8355466	RERE	H1540Q, H986Q	See cases, not provided	Uncertain significance (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 211418624.	NM_001042681.2(RERE):c.4594A>G (p.Met1532Val) GRCh37: Chr1:8415552 GRCh38: Chr1:8355492	RERE	M1532V, M978V	not provided	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 103174025.	NM_001042681.2(RERE):c.4571C>T (p.Ser1524Leu) GRCh37: Chr1:8415575 GRCh38: Chr1:8355515	RERE	S970L, S1524L	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Uncertain significance (May 30, 2018)	criteria provided, single submitter
Select item 45275226.	NM_001042681.2(RERE):c.4550T>A (p.Leu1517Gln) GRCh37: Chr1:8415596 GRCh38: Chr1:8355536	RERE	L1517Q, L963Q	not provided	Likely pathogenic (Oct 23, 2017)	criteria provided, single submitter
Select item 52176427.	NM_001042681.2(RERE):c.4529C>T (p.Pro1510Leu) GRCh37: Chr1:8415617 GRCh38: Chr1:8355557	RERE	P1510L, P956L	Inborn genetic diseases	Uncertain significance (May 2, 2017)	criteria provided, single submitter
Select item 78392228.	NM_001042681.2(RERE):c.4528C>A (p.Pro1510Thr) GRCh37: Chr1:8415618 GRCh38: Chr1:8355558	RERE	P1510T, P956T	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215068329.	NM_001042681.2(RERE):c.4519A>G (p.Ile1507Val) GRCh37: Chr1:8415627 GRCh38: Chr1:8355567	RERE	I1507V, I953V	not provided	Benign (Aug 19, 2022)	criteria provided, single submitter
Select item 150431830.	NM_001042681.2(RERE):c.4516G>A (p.Ala1506Thr) GRCh37: Chr1:8415630 GRCh38: Chr1:8355570	RERE	A1506T, A952T	not provided	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 160080431.	NM_001042681.2(RERE):c.4515G>T (p.Gly1505=) GRCh37: Chr1:8415631 GRCh38: Chr1:8355571	RERE		not provided	Benign (Oct 26, 2022)	criteria provided, single submitter
Select item 241987532.	NM_001042681.2(RERE):c.4491C>A (p.Thr1497_Pro1498=) GRCh37: Chr1:8415655 GRCh38: Chr1:8355595	RERE		not provided	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 205203233.	NM_001042681.2(RERE):c.4488C>T (p.Gly1496_Thr1497=) GRCh37: Chr1:8415658 GRCh38: Chr1:8355598	RERE		not provided	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 196123434.	NM_001042681.2(RERE):c.4487-5G>T GRCh37: Chr1:8415664 GRCh38: Chr1:8355604	RERE		not provided	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 198725635.	NM_001042681.2(RERE):c.4486+13dup GRCh37: Chr1:8416146-8416147 GRCh38: Chr1:8356086-8356087	RERE		not provided	Benign (Aug 16, 2022)	criteria provided, single submitter
Select item 153234236.	NM_001042681.2(RERE):c.4486+14T>G GRCh37: Chr1:8416146 GRCh38: Chr1:8356086	RERE		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 196076237.	NM_001042681.2(RERE):c.4486+10C>T GRCh37: Chr1:8416150 GRCh38: Chr1:8356090	RERE		not provided	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 159111938.	NM_001042681.2(RERE):c.4486+10C>G GRCh37: Chr1:8416150 GRCh38: Chr1:8356090	RERE		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 222815839.	NM_001042681.2(RERE):c.4471C>T (p.Arg1491Cys) GRCh37: Chr1:8416175 GRCh38: Chr1:8356115	RERE	R937C, R1491C	Inborn genetic diseases	Uncertain significance (Nov 30, 2020)	criteria provided, single submitter
Select item 80604640.	NM_001042681.2(RERE):c.4469T>C (p.Leu1490Pro) GRCh37: Chr1:8416177 GRCh38: Chr1:8356117	RERE	L936P, L1490P	not provided	Uncertain significance (Feb 1, 2019)	criteria provided, single submitter
Select item 117303841.	NM_001042681.2(RERE):c.4468C>T (p.Leu1490Phe) GRCh37: Chr1:8416178 GRCh38: Chr1:8356118	RERE	L1490F, L936F	not provided	Uncertain significance (Jun 17, 2021)	criteria provided, single submitter
Select item 131325442.	NM_001042681.2(RERE):c.4455C>A (p.His1485Gln) GRCh37: Chr1:8416191 GRCh38: Chr1:8356131	RERE	H1485Q, H931Q	not provided	Uncertain significance (Oct 21, 2020)	criteria provided, single submitter
Select item 209676843.	NM_001042681.2(RERE):c.4453C>T (p.His1485Tyr) GRCh37: Chr1:8416193 GRCh38: Chr1:8356133	RERE	H1485Y, H931Y	not provided	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 72198944.	NM_001042681.2(RERE):c.4451C>T (p.Pro1484Leu) GRCh37: Chr1:8416195 GRCh38: Chr1:8356135	RERE	P1484L, P930L	not provided	Likely benign (Dec 9, 2017)	criteria provided, single submitter
Select item 202684345.	NM_001042681.2(RERE):c.4449C>G (p.Pro1483_Pro1484=) GRCh37: Chr1:8416197 GRCh38: Chr1:8356137	RERE		not provided	Likely benign (Sep 8, 2022)	criteria provided, single submitter
Select item 168612546.	NM_001042681.2(RERE):c.4427C>T (p.Pro1476Leu) GRCh37: Chr1:8416219 GRCh38: Chr1:8356159	RERE	P1476L, P922L	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 130732647.	NM_001042681.2(RERE):c.4420A>G (p.Thr1474Ala) GRCh37: Chr1:8416226 GRCh38: Chr1:8356166	RERE	T1474A, T920A	not provided	Uncertain significance (Aug 8, 2019)	criteria provided, single submitter
Select item 222967248.	NM_001042681.2(RERE):c.4415C>G (p.Pro1472Arg) GRCh37: Chr1:8416231 GRCh38: Chr1:8356171	RERE	P1472R, P918R	Inborn genetic diseases	Uncertain significance (Mar 26, 2021)	criteria provided, single submitter
Select item 160141849.	NM_001042681.2(RERE):c.4413G>A (p.Pro1471=) GRCh37: Chr1:8416233 GRCh38: Chr1:8356173	RERE		not provided	Benign (Sep 27, 2022)	criteria provided, single submitter
Select item 243539950.	NM_001042681.2(RERE):c.4412C>T (p.Pro1471Leu) GRCh37: Chr1:8416234 GRCh38: Chr1:8356174	RERE	P1471L, P917L	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Uncertain significance (Dec 31, 2019)	criteria provided, single submitter
Select item 243541651.	NM_001042681.2(RERE):c.4399C>G (p.Arg1467Gly) GRCh37: Chr1:8416247 GRCh38: Chr1:8356187	RERE	R1467G, R913G	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Uncertain significance (Apr 20, 2021)	criteria provided, single submitter
Select item 99234852.	NM_001042681.2(RERE):c.4396G>C (p.Ala1466Pro) GRCh37: Chr1:8416250 GRCh38: Chr1:8356190	RERE	A1466P, A912P	not provided	Uncertain significance (Sep 30, 2020)	criteria provided, single submitter
Select item 39156453.	NM_001042681.2(RERE):c.4391A>G (p.His1464Arg) GRCh37: Chr1:8416255 GRCh38: Chr1:8356195	RERE	H1464R, H910R	not provided	Likely pathogenic (Dec 23, 2016)	criteria provided, single submitter
Select item 201989054.	NM_001042681.2(RERE):c.4389C>T (p.Pro1463_His1464=) GRCh37: Chr1:8416257 GRCh38: Chr1:8356197	RERE		not provided	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 195070155.	NM_001042681.2(RERE):c.4384G>A (p.Gly1462Ser) GRCh37: Chr1:8416262 GRCh38: Chr1:8356202	RERE	G1462S, G908S	not provided	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 154922756.	NM_001042681.2(RERE):c.4383C>T (p.Ala1461=) GRCh37: Chr1:8416263 GRCh38: Chr1:8356203	RERE		not provided	Likely benign (Aug 11, 2022)	criteria provided, single submitter
Select item 217457557.	NM_001042681.2(RERE):c.4368C>T (p.Val1456_Asp1457=) GRCh37: Chr1:8416278 GRCh38: Chr1:8356218	RERE		not provided	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 130818958.	NM_001042681.2(RERE):c.4361C>T (p.Pro1454Leu) GRCh37: Chr1:8416285 GRCh38: Chr1:8356225	RERE	P1454L, P900L	not provided	Uncertain significance (Aug 4, 2020)	criteria provided, single submitter
Select item 98257859.	NM_001042681.2(RERE):c.4354G>A (p.Val1452Ile) GRCh37: Chr1:8416292 GRCh38: Chr1:8356232	RERE	V1452I, V898I	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 155747260.	NM_001042681.2(RERE):c.4350C>T (p.Gly1450=) GRCh37: Chr1:8416296 GRCh38: Chr1:8356236	RERE		not provided	Benign (Dec 2, 2021)	criteria provided, single submitter
Select item 131108261.	NM_001042681.2(RERE):c.4349G>T (p.Gly1450Val) GRCh37: Chr1:8416297 GRCh38: Chr1:8356237	RERE	G1450V, G896V	not provided	Uncertain significance (Dec 9, 2019)	criteria provided, single submitter
Select item 207149162.	NM_001042681.2(RERE):c.4339+8_4339+17del GRCh37: Chr1:8418239-8418248 GRCh38: Chr1:8358179-8358188	RERE		not provided	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 217276963.	NM_001042681.2(RERE):c.4339+5G>A GRCh37: Chr1:8418251 GRCh38: Chr1:8358191	RERE		not provided	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 101574964.	NM_001042681.2(RERE):c.4339+3G>A GRCh37: Chr1:8418253 GRCh38: Chr1:8358193	RERE		not provided	Uncertain significance (Sep 15, 2022)	criteria provided, single submitter
Select item 222760965.	NM_001042681.2(RERE):c.4335C>A (p.His1445Gln) GRCh37: Chr1:8418260 GRCh38: Chr1:8358200	RERE	H1445Q, H891Q	Inborn genetic diseases	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 243541566.	NM_001042681.2(RERE):c.4331T>G (p.Leu1444Arg) GRCh37: Chr1:8418264 GRCh38: Chr1:8358204	RERE	L1444R, L890R	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Uncertain significance (May 14, 2019)	criteria provided, single submitter
Select item 98568967.	NM_001042681.2(RERE):c.4326C>A (p.Asp1442Glu) GRCh37: Chr1:8418269 GRCh38: Chr1:8358209	RERE	D1442E, D888E	Inborn genetic diseases	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 56200768.	NM_001042681.2(RERE):c.4319A>G (p.Gln1440Arg) GRCh37: Chr1:8418276 GRCh38: Chr1:8358216	RERE	Q1440R, Q886R	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Pathogenic (Sep 12, 2017)	criteria provided, single submitter
Select item 41845669.	NM_001042681.2(RERE):c.4307TCCACC[3] (p.1436LH[3]) GRCh37: Chr1:8418276-8418277 GRCh38: Chr1:8358216-8358217	RERE		Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided	Pathogenic (Feb 28, 2018)	criteria provided, multiple submitters, no conflicts
Select item 244210770.	NM_001042681.2(RERE):c.4307_4318del (p.Leu1436_His1439del) GRCh37: Chr1:8418277-8418288 GRCh38: Chr1:8358217-8358228	RERE		Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Likely pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 157440071.	NM_001042681.2(RERE):c.4314C>A (p.Leu1438=) GRCh37: Chr1:8418281 GRCh38: Chr1:8358221	RERE		not provided	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 54504172.	NM_001042681.2(RERE):c.4305C>G (p.His1435Gln) GRCh37: Chr1:8418290 GRCh38: Chr1:8358230	RERE	H1435Q, H881Q	not provided	Pathogenic (Oct 21, 2022)	criteria provided, single submitter
Select item 52285873.	NM_001042681.2(RERE):c.4304A>G (p.His1435Arg) GRCh37: Chr1:8418291 GRCh38: Chr1:8358231	RERE	H1435R, H881R	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided	Pathogenic/Likely pathogenic (Feb 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45239174.	NM_001042681.2(RERE):c.4304A>T (p.His1435Leu) GRCh37: Chr1:8418291 GRCh38: Chr1:8358231	RERE	H1435L, H881L	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, not provided	Likely pathogenic (Oct 3, 2017)	criteria provided, multiple submitters, no conflicts
Select item 56200575.	NM_001042681.2(RERE):c.4303C>T (p.His1435Tyr) GRCh37: Chr1:8418292 GRCh38: Chr1:8358232	RERE	H1435Y, H881Y	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Pathogenic (Sep 12, 2017)	criteria provided, single submitter
Select item 56200476.	NM_001042681.2(RERE):c.4300T>C (p.Ser1434Pro) GRCh37: Chr1:8418295 GRCh38: Chr1:8358235	RERE	S1434P, S880P	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart	Pathogenic (Sep 12, 2017)	criteria provided, single submitter
Select item 168674977.	NM_001042681.2(RERE):c.4297C>T (p.His1433Tyr) GRCh37: Chr1:8418298 GRCh38: Chr1:8358238	RERE	H1433Y, H879Y	not provided	Pathogenic (May 19, 2022)	criteria provided, single submitter
Select item 52131178.	NM_001042681.2(RERE):c.4297C>G (p.His1433Asp) GRCh37: Chr1:8418298 GRCh38: Chr1:8358238	RERE	H1433D, H879D	Inborn genetic diseases	Uncertain significance (Oct 7, 2016)	criteria provided, single submitter
Select item 22482279.	NM_001042681.2(RERE):c.4293C>A (p.His1431Gln) GRCh37: Chr1:8418302 GRCh38: Chr1:8358242	RERE	H1431Q, H877Q	not provided, Inborn genetic diseases, Cerebral visual impairment and intellectual disability	Pathogenic/Likely pathogenic (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 37982780.	NM_001042681.2(RERE):c.4286A>G (p.His1429Arg) GRCh37: Chr1:8418309 GRCh38: Chr1:8358249	RERE	H1429R, H875R	not provided	Likely pathogenic (Sep 7, 2016)	criteria provided, single submitter
Select item 157439181.	NM_001042681.2(RERE):c.4275C>T (p.His1425=) GRCh37: Chr1:8418320 GRCh38: Chr1:8358260	RERE		not provided	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 125441882.	NM_001042681.2(RERE):c.4271C>T (p.Pro1424Leu) GRCh37: Chr1:8418324 GRCh38: Chr1:8358264	RERE	P1424L, P870L	not provided	Pathogenic (Sep 1, 2021)	criteria provided, single submitter
Select item 241323383.	NM_001042681.2(RERE):c.4269T>C (p.Thr1423_Pro1424=) GRCh37: Chr1:8418326 GRCh38: Chr1:8358266	RERE		not provided	Likely benign (Sep 15, 2022)	criteria provided, single submitter
Select item 207413684.	NM_001042681.2(RERE):c.4263C>T (p.Asn1421_Val1422=) GRCh37: Chr1:8418332 GRCh38: Chr1:8358272	RERE		not provided	Benign (Jul 15, 2022)	criteria provided, single submitter
Select item 226096285.	NM_001042681.2(RERE):c.4259T>C (p.Phe1420Ser) GRCh37: Chr1:8418336 GRCh38: Chr1:8358276	RERE	F866S, F1420S	Inborn genetic diseases	Uncertain significance (Nov 12, 2021)	criteria provided, single submitter
Select item 207965886.	NM_001042681.2(RERE):c.4237C>T (p.Pro1413Ser) GRCh37: Chr1:8418358 GRCh38: Chr1:8358298	RERE	P1413S, P859S	not provided	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 218492587.	NM_001042681.2(RERE):c.4234G>A (p.Asp1412Asn) GRCh37: Chr1:8418361 GRCh38: Chr1:8358301	RERE	D1412N, D858N	not provided	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 217848188.	NM_001042681.2(RERE):c.4233C>T (p.Ser1411_Asp1412=) GRCh37: Chr1:8418362 GRCh38: Chr1:8358302	RERE		not provided	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 77338889.	NM_001042681.2(RERE):c.4224G>A (p.Ser1408=) GRCh37: Chr1:8418371 GRCh38: Chr1:8358311	RERE		not provided	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 191128790.	NM_001042681.2(RERE):c.4221A>G (p.Ala1407_Ser1408=) GRCh37: Chr1:8418374 GRCh38: Chr1:8358314	RERE		not provided	Benign (Jun 2, 2022)	criteria provided, single submitter
Select item 133151591.	NM_001042681.2(RERE):c.4218G>A (p.Met1406Ile) GRCh37: Chr1:8418377 GRCh38: Chr1:8358317	RERE	M1406I, M852I	not provided	Uncertain significance (Nov 13, 2020)	criteria provided, single submitter
Select item 219716192.	NM_001042681.2(RERE):c.4214G>A (p.Arg1405His) GRCh37: Chr1:8418381 GRCh38: Chr1:8358321	RERE	R1405H, R851H	not provided	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 215064293.	NM_001042681.2(RERE):c.4207G>A (p.Ala1403Thr) GRCh37: Chr1:8418388 GRCh38: Chr1:8358328	RERE	A1403T, A849T	not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 213520494.	NM_001042681.2(RERE):c.4201A>G (p.Ile1401Val) GRCh37: Chr1:8418394 GRCh38: Chr1:8358334	RERE	I1401V, I847V	not provided	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 169331395.	NM_001042681.2(RERE):c.4195G>C (p.Glu1399Gln) GRCh37: Chr1:8418400 GRCh38: Chr1:8358340	RERE	E1399Q, E845Q	not provided	Uncertain significance (Jun 6, 2022)	criteria provided, single submitter
Select item 243084196.	NM_001042681.2(RERE):c.4189G>A (p.Ala1397Thr) GRCh37: Chr1:8418406 GRCh38: Chr1:8358346	RERE	A1397T, A843T	not provided	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 130781597.	NM_001042681.2(RERE):c.4189G>T (p.Ala1397Ser) GRCh37: Chr1:8418406 GRCh38: Chr1:8358346	RERE	A1397S, A843S	not provided	Uncertain significance (Aug 20, 2019)	criteria provided, single submitter
Select item 217016698.	NM_001042681.2(RERE):c.4176C>T (p.Tyr1392_Pro1393=) GRCh37: Chr1:8418419 GRCh38: Chr1:8358359	RERE		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 158768899.	NM_001042681.2(RERE):c.4164C>T (p.Pro1388=) GRCh37: Chr1:8418431 GRCh38: Chr1:8358371	RERE		not provided	Likely benign (Sep 21, 2021)	criteria provided, single submitter
Select item 2124626100.	NM_001042681.2(RERE):c.4151C>T (p.Pro1384Leu) GRCh37: Chr1:8418444 GRCh38: Chr1:8358384	RERE	P830L, P1384L	not provided	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter

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