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Items: 1 to 100 of 1523

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
2.
GRCh37:
Chr1:564424-7068738
GRCh38:
Chr1:629044-7008678
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, 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, 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 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, 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
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, 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, 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
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, 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
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, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC110120751, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, 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
See casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
7.
GRCh37:
Chr1:779727-6976647
GRCh38:
Chr1:844347-6916587
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, 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, 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
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, 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, 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
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 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, 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, 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, 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, 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
ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, KCNAB2, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01672, LINC01777, LINC02782, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC120851201, LOC120851202, LOC121677384, LOC121677385, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC124903827, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC128505377, LRRC47, MEGF6, MIR4251, MIR4252, MIR4417, MIR4689, MIR551A, NOL9, NPHP4, PARK7, PER3, PHF13, PLEKHG5, PRDM16, PRDM16-DT, RNF207, RNF207-AS1, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF25, TNFRSF9, TP73, TP73-AS1, TP73-AS3, TPRG1L, UTS2, VAMP3, WRAP73, ZBTB48
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
16.
GRCh37:
Chr1:2785042-7392629
GRCh38:
Chr1:2868477-7332569
ACOT7, ACTRT2, AJAP1, ARHGEF16, C1orf174, CAMTA1, CAMTA1-AS3, CAMTA1-DT, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, KCNAB2, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01672, LINC01777, LINC02782, LOC108281140, LOC108281186, LOC110120751, LOC110121223, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC120851201, LOC120851202, LOC121677384, LOC121677385, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC124903827, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC128505377, LRRC47, MEGF6, MIR4251, MIR4252, MIR4417, MIR4689, MIR551A, NOL9, NPHP4, PHF13, PLEKHG5, PRDM16, PRDM16-DT, RNF207, RNF207-AS1, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF25, TP73, TP73-AS1, TP73-AS3, TPRG1L, WRAP73, ZBTB48
See casesPathogenic
(Apr 30, 2011)		no assertion criteria provided
17.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
18.
GRCh37:
Chr1:3388727-7903007
GRCh38:
Chr1:3472163-7842947
ACOT7, AJAP1, ARHGEF16, C1orf174, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CEP104, CHD5, DFFB, DNAJC11, ESPN, GPR153, HES2, HES3, ICMT, ICMT-DT, KCNAB2, KLHL21, LINC01134, LINC01345, LINC01346, LINC01646, LINC01672, LINC01777, LINC02782, LOC108281140, LOC108281186, LOC112577581, LOC112590813, LOC120851202, LOC121677384, LOC121677385, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC128505377, LRRC47, MEGF6, MIR4252, MIR4417, MIR4689, MIR551A, NOL9, NPHP4, PER3, PHF13, PLEKHG5, RNF207, RNF207-AS1, RPL22, SMIM1, TAS1R1, THAP3, TNFRSF25, TP73, TP73-AS1, TP73-AS3, TPRG1L, VAMP3, WRAP73, ZBTB48
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
19.
GRCh37:
Chr1:4859379-6189735
GRCh38:
Chr1:4799319-6129675
LOC121967054, CHD5, KCNAB2, LINC02782, LOC108281186, LOC112590813, LOC121677385, LOC121967053, LOC121967055, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, MIR4417, MIR4689, NPHP4
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
20.
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
21.
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
22.
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
23.
GRCh37:
Chr1:5614166-6029886
GRCh38:
Chr1:5554106-5969826
LOC108281186, LOC121677385, LOC121967055, MIR4417, MIR4689, NPHP4See casesLikely benign
(Apr 30, 2011)		no assertion criteria provided
24.
GRCh37:
Chr1:5923011
GRCh38:
Chr1:5862951
NPHP4Nephronophthisis 4, Senior-Loken syndrome 4Benign
(Jan 13, 2018)		criteria provided, single submitter
25.
GRCh37:
Chr1:5923040
GRCh38:
Chr1:5862980
NPHP4Nephronophthisis 4, Senior-Loken syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr1:5923197
GRCh38:
Chr1:5863137
NPHP4Nephronophthisis 4, Senior-Loken syndrome 4Benign
(Jan 13, 2018)		criteria provided, single submitter
27.
GRCh37:
Chr1:5923228
GRCh38:
Chr1:5863168
NPHP4Nephronophthisis 4, Senior-Loken syndrome 4Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
28.
GRCh37:
Chr1:5923238
GRCh38:
Chr1:5863178
NPHP4Nephronophthisis 4, Senior-Loken syndrome 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr1:5923299
GRCh38:
Chr1:5863239
NPHP4Senior-Loken syndrome 4, Nephronophthisis 4Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr1:5923337
GRCh38:
Chr1:5863277
NPHP4NephronophthisisLikely benign
(Mar 27, 2022)		criteria provided, single submitter
31.
GRCh37:
Chr1:5923339
GRCh38:
Chr1:5863279
NPHP4V910L, V911L, V1423LNephronophthisisUncertain significance
(Jul 23, 2022)		criteria provided, single submitter
32.
GRCh37:
Chr1:5923339
GRCh38:
Chr1:5863279
NPHP4V1423I, V911I, V910INephronophthisisUncertain significance
(Aug 27, 2021)		criteria provided, single submitter
33.
GRCh37:
Chr1:5923345
GRCh38:
Chr1:5863285
NPHP4V1421M, V908M, V909MNephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4
Uncertain significance
(Jun 7, 2022)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr1:5923346
GRCh38:
Chr1:5863286
NPHP4NephronophthisisLikely benign
(Sep 2, 2020)		criteria provided, single submitter
35.
GRCh37:
Chr1:5923357
GRCh38:
Chr1:5863297
NPHP4E1417K, E905K, E904KNephronophthisisUncertain significance
(Aug 22, 2022)		criteria provided, single submitter
36.
GRCh37:
Chr1:5923360
GRCh38:
Chr1:5863300
NPHP4E903K, E904K, E1416KNephronophthisisUncertain significance
(May 16, 2022)		criteria provided, single submitter
37.
GRCh37:
Chr1:5923361
GRCh38:
Chr1:5863301
NPHP4NephronophthisisLikely benign
(May 25, 2022)		criteria provided, single submitter
38.
GRCh37:
Chr1:5923367
GRCh38:
Chr1:5863307
NPHP4D1413E, D901E, D900ENephronophthisis 4, Senior-Loken syndrome 4, not provided,
Nephronophthisis		Uncertain significance
(Sep 27, 2022)		criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr1:5923369
GRCh38:
Chr1:5863309
NPHP4D1413N, D900N, D901NNephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis
Benign/Likely benign
(Oct 28, 2022)		criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:5923373
GRCh38:
Chr1:5863313
NPHP4Nephronophthisis, not providedConflicting interpretations of pathogenicity
(Oct 13, 2021)		criteria provided, conflicting interpretations
41.
GRCh37:
Chr1:5923374
GRCh38:
Chr1:5863314
NPHP4H898R, H899R, H1411RNephronophthisisUncertain significance
(Aug 30, 2021)		criteria provided, single submitter
42.
GRCh37:
Chr1:5923381
GRCh38:
Chr1:5863321
NPHP4N1409D, N896D, N897DNephronophthisisUncertain significance
(Mar 12, 2022)		criteria provided, single submitter
43.
GRCh37:
Chr1:5923384
GRCh38:
Chr1:5863324
NPHP4I1408V, I895V, I896VNephronophthisisUncertain significance
(Sep 15, 2021)		criteria provided, single submitter
44.
GRCh37:
Chr1:5923385
GRCh38:
Chr1:5863325
NPHP4Nephronophthisis, not providedConflicting interpretations of pathogenicity
(Mar 10, 2022)		criteria provided, conflicting interpretations
45.
GRCh37:
Chr1:5923386
GRCh38:
Chr1:5863326
NPHP4Y1407C, Y894C, Y895Cnot provided, Senior-Loken syndrome 4, Nephronophthisis 4
Uncertain significance
(Mar 2, 2022)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:5923389
GRCh38:
Chr1:5863329
NPHP4I1406S, I894S, I893SNephronophthisisUncertain significance
(Oct 21, 2021)		criteria provided, single submitter
47.
GRCh37:
Chr1:5923395
GRCh38:
Chr1:5863335
NPHP4I1404T, I891T, I892Tnot providedUncertain significance
(Nov 18, 2016)		criteria provided, single submitter
48.
GRCh37:
Chr1:5923397
GRCh38:
Chr1:5863337
NPHP4NephronophthisisLikely benign
(Mar 17, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr1:5923407
GRCh38:
Chr1:5863347
NPHP4G1400D, G887D, G888DNephronophthisisUncertain significance
(Oct 25, 2022)		criteria provided, single submitter
50.
GRCh37:
Chr1:5923408
GRCh38:
Chr1:5863348
NPHP4G1400S, G887S, G888SNephronophthisisUncertain significance
(Feb 1, 2022)		criteria provided, single submitter
51.
GRCh37:
Chr1:5923411
GRCh38:
Chr1:5863351
NPHP4V1399M, V886M, V887MNephronophthisisUncertain significance
(Aug 9, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr1:5923424
GRCh38:
Chr1:5863364
NPHP4not provided, NephronophthisisConflicting interpretations of pathogenicity
(Jul 12, 2022)		criteria provided, conflicting interpretations
53.
GRCh37:
Chr1:5923425
GRCh38:
Chr1:5863365
NPHP4A882V, A881V, A1394VNephronophthisisUncertain significance
(May 16, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr1:5923427
GRCh38:
Chr1:5863367
NPHP4F1393L, F880L, F881LNephronophthisis, not specified, Nephronophthisis 4,
Senior-Loken syndrome 4		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
55.
GRCh37:
Chr1:5923431
GRCh38:
Chr1:5863371
NPHP4Q879R, Q880R, Q1392RNephronophthisisUncertain significance
(Mar 2, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr1:5923434
GRCh38:
Chr1:5863374
NPHP4L1391*, L878*, L879*NephronophthisisUncertain significance
(Sep 1, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr1:5923439
GRCh38:
Chr1:5863379
NPHP4Nephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4
Likely benign
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr1:5923443
GRCh38:
Chr1:5863383
NPHP4T876I, T875I, T1388INephronophthisisUncertain significance
(Feb 2, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr1:5923449
GRCh38:
Chr1:5863389
NPHP4T1386N, T873N, T874NNephronophthisisUncertain significance
(Feb 4, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr1:5923460
GRCh38:
Chr1:5863400
NPHP4NephronophthisisLikely benign
(Dec 8, 2021)		criteria provided, single submitter
61.
GRCh37:
Chr1:5923461
GRCh38:
Chr1:5863401
NPHP4G1382E, G869E, G870Enot provided, Senior-Loken syndrome 4, Nephronophthisis 4,
Nephronophthisis		Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr1:5923462
GRCh38:
Chr1:5863402
NPHP4G869R, G870R, G1382RNephronophthisisUncertain significance
(Jun 13, 2022)		criteria provided, single submitter
63.
GRCh37:
Chr1:5923463
GRCh38:
Chr1:5863403
NPHP4not provided, NephronophthisisConflicting interpretations of pathogenicity
(Oct 26, 2022)		criteria provided, conflicting interpretations
64.
GRCh37:
Chr1:5923465
GRCh38:
Chr1:5863405
NPHP4V868I, V1381I, V869INephronophthisisUncertain significance
(Mar 27, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr1:5923476
GRCh38:
Chr1:5863416
NPHP4Nephronophthisis, Nephronophthisis 4, not specified,
Senior-Loken syndrome 4		Conflicting interpretations of pathogenicity
(Oct 13, 2022)		criteria provided, conflicting interpretations
66.
GRCh37:
Chr1:5923477
GRCh38:
Chr1:5863417
NPHP4NephronophthisisLikely benign
(Aug 16, 2022)		criteria provided, single submitter
67.
GRCh37:
Chr1:5923788
GRCh38:
Chr1:5863728
NPHP4not providedBenign
(May 13, 2021)		criteria provided, single submitter
68.
GRCh37:
Chr1:5923938-5923939
GRCh38:
Chr1:5863878-5863879
NPHP4NephronophthisisBenign
(Sep 1, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr1:5923938
GRCh38:
Chr1:5863878
NPHP4NephronophthisisLikely benign
(Aug 20, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr1:5923941
GRCh38:
Chr1:5863881
NPHP4NephronophthisisUncertain significance
(Dec 20, 2021)		criteria provided, single submitter
71.
GRCh37:
Chr1:5923947
GRCh38:
Chr1:5863887
NPHP4NephronophthisisUncertain significance
(Aug 16, 2022)		criteria provided, single submitter
72.
GRCh37:
Chr1:5923972
GRCh38:
Chr1:5863912
NPHP4R1373Q, R861Q, R860QNephronophthisis 4, Senior-Loken syndrome 4, not provided,
Nephronophthisis		Uncertain significance
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr1:5923973
GRCh38:
Chr1:5863913
NPHP4R1373W, R860W, R861WNephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis
Uncertain significance
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr1:5923975
GRCh38:
Chr1:5863915
NPHP4L1372P, L859P, L860PNephronophthisis 4Likely pathogenic
(Feb 1, 2020)		criteria provided, single submitter
75.
GRCh37:
Chr1:5923976
GRCh38:
Chr1:5863916
NPHP4Nephronophthisis, not provided, Nephronophthisis 4,
Senior-Loken syndrome 4		Conflicting interpretations of pathogenicity
(Nov 3, 2022)		criteria provided, conflicting interpretations
76.
GRCh37:
Chr1:5923977
GRCh38:
Chr1:5863917
NPHP4NephronophthisisLikely benign
(Mar 24, 2020)		criteria provided, single submitter
77.
GRCh37:
Chr1:5923977
GRCh38:
Chr1:5863917
NPHP4NephronophthisisLikely benign
(May 20, 2020)		criteria provided, single submitter
78.
GRCh37:
Chr1:5923983
GRCh38:
Chr1:5863923
NPHP4not provided, NephronophthisisConflicting interpretations of pathogenicity
(Aug 23, 2022)		criteria provided, conflicting interpretations
79.
GRCh37:
Chr1:5923984
GRCh38:
Chr1:5863924
NPHP4P1369L, P856L, P857Lnot provided, NephronophthisisUncertain significance
(Jun 13, 2022)		criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr1:5923985
GRCh38:
Chr1:5863925
NPHP4P1369S, P856S, P857SNephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4
Uncertain significance
(Aug 15, 2022)		criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr1:5923989
GRCh38:
Chr1:5863929
NPHP4NephronophthisisLikely benign
(Jul 12, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr1:5923991
GRCh38:
Chr1:5863931
NPHP4D1367N, D854N, D855NNephronophthisis 4, Senior-Loken syndrome 4, Nephronophthisis 4,
Nephronophthisis, not provided		Uncertain significance
(Jul 18, 2022)		criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr1:5923997
GRCh38:
Chr1:5863937
NPHP4H853Y, H852Y, H1365YNephronophthisisUncertain significance
(Jun 20, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr1:5924010
GRCh38:
Chr1:5863950
NPHP4NephronophthisisLikely benign
(Apr 16, 2021)		criteria provided, single submitter
85.
GRCh37:
Chr1:5924014
GRCh38:
Chr1:5863954
NPHP4R846Q, R1359Q, R847QNephronophthisis, Nephronophthisis 4, Nephronophthisis 4,
Senior-Loken syndrome 4, Senior-Loken syndrome 4		Uncertain significance
(Mar 10, 2022)		criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr1:5924015
GRCh38:
Chr1:5863955
NPHP4R1359W, R846W, R847WNephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4,
Nephronophthisis 4, Senior-Loken syndrome 4, not provided
Uncertain significance
(Oct 4, 2022)		criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr1:5924017
GRCh38:
Chr1:5863957
NPHP4S845F, S1358F, S846FNephronophthisisUncertain significance
(Jun 28, 2022)		criteria provided, single submitter
88.
GRCh37:
Chr1:5924023
GRCh38:
Chr1:5863963
NPHP4Y1356F, Y843F, Y844FNephronophthisisUncertain significance
(Jul 19, 2022)		criteria provided, single submitter
89.
GRCh37:
Chr1:5924025
GRCh38:
Chr1:5863965
NPHP4Y843fs, Y1356fs, Y844fsNephronophthisisUncertain significance
(Jun 23, 2022)		criteria provided, single submitter
90.
GRCh37:
Chr1:5924025
GRCh38:
Chr1:5863965
NPHP4NephronophthisisLikely benign
(Mar 24, 2020)		criteria provided, single submitter
91.
GRCh37:
Chr1:5924028
GRCh38:
Chr1:5863968
NPHP4NephronophthisisLikely benign
(May 19, 2022)		criteria provided, single submitter
92.
GRCh37:
Chr1:5924033
GRCh38:
Chr1:5863973
NPHP4T1353A, T840A, T841ANephronophthisisUncertain significance
(Jul 12, 2022)		criteria provided, single submitter
93.
GRCh37:
Chr1:5924038
GRCh38:
Chr1:5863978
NPHP4T1351S, T839S, T838SNephronophthisisUncertain significance
(Mar 10, 2022)		criteria provided, single submitter
94.
GRCh37:
Chr1:5924039
GRCh38:
Chr1:5863979
NPHP4T1351P, T839P, T838Pnot provided, NephronophthisisUncertain significance
(Aug 26, 2021)		criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr1:5924044
GRCh38:
Chr1:5863984
NPHP4R1349K, R836K, R837KNephronophthisisUncertain significance
(Aug 26, 2021)		criteria provided, single submitter
96.
GRCh37:
Chr1:5924053-5924059
GRCh38:
Chr1:5863993-5863999
NPHP4K831fs, K1344fs, K832fsnot providedLikely pathogenic
(Nov 3, 2017)		criteria provided, single submitter
97.
GRCh37:
Chr1:5924056
GRCh38:
Chr1:5863996
NPHP4G1345D, G832D, G833DNephronophthisis, Nephronophthisis 4, Senior-Loken syndrome 4,
not provided, Nephronophthisis 4, Senior-Loken syndrome 4
Uncertain significance
(Oct 24, 2022)		criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:5924062
GRCh38:
Chr1:5864002
NPHP4G831E, G1343E, G830ENephronophthisisUncertain significance
(Jun 27, 2022)		criteria provided, single submitter
99.
GRCh37:
Chr1:5924064
GRCh38:
Chr1:5864004
NPHP4NephronophthisisLikely benign
(Jun 25, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr1:5924066
GRCh38:
Chr1:5864006
NPHP4E830K, E829K, E1342KNephronophthisisUncertain significance
(Jul 9, 2022)		criteria provided, single submitter
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