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Items: 1 to 100 of 382

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:564405-8597804
GRCh38:
Chr1:629025-8537745
ATAD3C, AURKAIP1, B3GALT6, CCNL2, CDK11A, CDK11B, CFAP74, ERRFI1-DT, ESPN, FAAP20, FAM41C, FAM87B, HES5, ICMT, ICMT-DT, FNDC10, GABRD, ACAP3, ACOT7, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ACTRT2, C1QTNF12, CEP104, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CCDC27, CHD5, CPTP, DFFB, DNAJC11, DVL1, ERRFI1, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01409, LINC01646, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288069, LOC100288175, LOC100996583, LOC105376689, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC108281186, LOC108281189, LOC110120751, LOC110121213, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC112590813, LOC112590821, LOC112590822, LOC115801415, LOC120851201, LOC120851202, LOC121677382, LOC121677383, LOC121677384, LOC121677385, LOC121967041, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC121967054, LOC121967055, LOC121967056, LOC121967057, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC126805596, LOC126805597, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129929055, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC129929212, LOC129929213, LOC129929214, LOC129929215, LOC129929216, LOC129929217, LOC129929218, LOC129929219, LOC129929220, LOC129929221, LOC129929222, LOC129929223, LOC129929224, LOC129929225, LOC129929226, LOC129929227, LOC129929228, LOC129929229, LOC129929230, LOC129929231, LOC129929232, LOC129929233, LOC129929234, LOC129929235, LOC129929236, LOC129929237, LOC129929238, LOC129929239, LOC129929240, LOC129929241, LOC129929242, LOC129929243, LOC129929244, LOC129929245, LOC129929246, LOC129929247, LOC129929248, LOC129929249, LOC129929250, LOC129929251, LOC129929252, LOC129929253, LOC129929254, LOC129929255, LOC129929256, LOC129929257, LOC129929258, LOC129929259, LOC129929260, LOC129929261, LOC129929262, LOC129929263, LOC129929264, LOC129929265, LOC129929266, LOC129929267, LOC129929268, LOC129929269, LOC129929270, LOC129929271, LOC129929272, LOC129929273, LOC129929274, LOC129929275, LOC129929276, LOC129929277, LOC129929278, LOC129929279, LOC129929280, LOC129929281, LOC129929282, LOC129929283, LOC129929284, LOC129929285, LOC129929286, LOC129929287, LOC129929288, LOC129929289, LOC129929290, LOC129929291, LOC129929292, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR12136, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4689, MIR551A, 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-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UTS2, VAMP3, VWA1, WRAP73, ZBTB48
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr1:564424-7068738
GRCh38:
Chr1:629044-7008678
LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC129929212, LOC129929213, LOC129929214, LOC129929215, LOC129929216, LOC129929217, LOC129929218, LOC129929219, LOC129929220, LOC129929221, LOC129929222, LOC129929223, LOC129929224, LOC129929225, LOC129929226, LOC129929227, LOC129929228, LOC129929229, LOC129929230, LOC129929231, LOC129929232, LOC129929233, LOC129929234, LOC129929235, LOC129929236, LOC129929237, LOC129929238, LOC129929239, LOC129929240, LOC129929241, LOC129929242, LOC129929243, LOC129929244, LOC129929245, LOC129929246, LOC129929247, LOC129929248, LOC129929249, LOC129929250, LOC129929251, LOC129929252, LOC129929253, LOC129929254, LOC129929255, LOC129929256, LOC129929257, LOC129929258, LOC129929259, LOC129929260, LOC129929261, LOC129929262, LOC129929263, LOC129929264, LOC129929265, LOC129929266, LOC129929267, LOC129929268, LOC129929269, LOC129929270, LOC129929271, LOC129929272, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR12136, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, MIR4689, MIR551A, 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-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ZBTB48, ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-AS3, CAMTA1-DT, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FAM41C, FAM87B, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01409, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288069, LOC100288175, LOC100996583, LOC105378586, LOC105378604, 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, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129929055, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr1:564424-3262790
GRCh38:
Chr1:629044-3346226
ACAP3, ACTRT2, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FAM41C, FAM87B, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01409, LINC01770, LINC01786, LINC02593, LOC100288069, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121967041, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129929055, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132090658, MIB2, MIR12136, MIR200A, MIR200B, MIR4251, MIR429, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, OR4F16, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr1:714078-4958499
GRCh38:
Chr1:778698-4898439
ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FAM87B, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01409, LINC01646, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129929055, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
5.
GRCh37:
Chr1:728138-5066371
GRCh38:
Chr1:792758-5006311
LINC01786, LINC02593, LINC02780, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129929056, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FAM87B, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01409, LINC01646, LINC01770, LINC01777
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh38:
Chr1:817861-1836133
TMEM240, TMEM88B, TNFRSF4, TTLL10, TTLL10-AS1, UBE2J2, VWA1, TNFRSF18, NADK, NOC2L, PERM1, PLEKHN1, PUSL1, RNF223, SAMD11, SCNN1D, SDF4, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, ACAP3, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CCNL2, CDK11A, CDK11B, CPTP, DVL1, FAM41C, FAM87B, FNDC10, GNB1, HES4, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112577469, LOC115801415, LOC121677382, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC126805576, LOC126805577, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23B, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8
Chromosome 1p36 deletion syndromePathogenic
(Mar 19, 2021)
criteria provided, single submitter
7.
GRCh37:
Chr1:757093-4285145
GRCh38:
Chr1:821713-4225085
ACAP3, ACTRT2, AGRN, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01770, LINC01786, LINC02593, LINC02780, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
8.
GRCh37:
Chr1:757093-5160050
GRCh38:
Chr1:821713-5099990
ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73
See casesPathogenic
(Oct 23, 2012)
no assertion criteria provided
9.
GRCh37:
Chr1:757093-2892687
GRCh38:
Chr1:821713-2976123
FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC115801415, LOC121677382, LOC121677383, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC132088605, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, ACAP3, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FAM41C
See casesPathogenic
(Jan 9, 2013)
no assertion criteria provided
10.
GRCh37:
Chr1:757093-2567832
GRCh38:
Chr1:821713-2636393
ACAP3, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC100996583, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC115801415, LOC121677382, LOC121677383, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC132088605, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TTLL10, TTLL10-AS1, UBE2J2, VWA1
See casesPathogenic
(Apr 4, 2013)
no assertion criteria provided
11.
GRCh37:
Chr1:757093-5540323
GRCh38:
Chr1:821713-5480263
ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC121967053, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC126805593, LOC126805594, LOC126805595, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16
See casesPathogenic
(Nov 26, 2012)
no assertion criteria provided
12.
GRCh37:
Chr1:757093-2485486
GRCh38:
Chr1:821713-2554047
ACAP3, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC105378586, LOC105378948, LOC106783496, LOC107985728, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC115801415, LOC121677382, LOC121677383, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC132088605, MIB2, MIR200A, MIR200B, MIR429, MIR6726, MIR6727, MIR6808, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TTLL10, TTLL10-AS1, UBE2J2, VWA1
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
13.
GRCh37:
Chr1:757093-3354772
GRCh38:
Chr1:821713-3438208
ACAP3, ACTRT2, AGRN, ANKRD65, ANKRD65-AS1, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132090658, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1
See casesPathogenic
(Aug 13, 2012)
no assertion criteria provided
14.
GRCh37:
Chr1:757093-7060898
GRCh38:
Chr1:821713-7000838
ACAP3, ACOT7, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CAMTA1, CAMTA1-DT, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CHD5, CPTP, DFFB, DNAJC11, DVL1, ESPN, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KLHL17, KLHL21, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01672, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378604, 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, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC129929210, LOC129929211, LOC129929212, LOC129929213, LOC129929214, LOC129929215, LOC129929216, LOC129929217, LOC129929218, LOC129929219, LOC129929220, LOC129929221, LOC129929222, LOC129929223, LOC129929224, LOC129929225, LOC129929226, LOC129929227, LOC129929228, LOC129929229, LOC129929230, LOC129929231, LOC129929232, LOC129929233, LOC129929234, LOC129929235, LOC129929236, LOC129929237, LOC129929238, LOC129929239, LOC129929240, LOC129929241, LOC129929242, LOC129929243, LOC129929244, LOC129929245, LOC129929246, LOC129929247, LOC129929248, LOC129929249, LOC129929250, LOC129929251, LOC129929252, LOC129929253, LOC129929254, LOC129929255, LOC129929256, LOC129929257, LOC129929258, LOC129929259, LOC129929260, LOC129929261, LOC129929262, LOC129929263, LOC129929264, LOC129929265, LOC129929266, LOC129929267, LOC129929268, LOC129929269, LOC129929270, LOC129929271, LOC129929272, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132090658, LOC132205951, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR4252, MIR429, 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-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73, ZBTB48
See casesPathogenic
(Aug 2, 2011)
no assertion criteria provided
15.
GRCh37:
Chr1:757093-3486455
GRCh38:
Chr1:821713-3569891
ACAP3, ACTRT2, AGRN, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, CALML6, CCNL2, CDK11A, CDK11B, CFAP74, CPTP, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132090658, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1
See casesPathogenic
(Mar 12, 2012)
no assertion criteria provided
16.
GRCh37:
Chr1:757093-3823583
GRCh38:
Chr1:821713-3928354
ACAP3, ACTRT2, AGRN, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01770, LINC01786, LINC02593, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199, LOC129929200, LOC129929201, LOC129929202, LOC129929203, LOC129929204, LOC129929205, LOC129929206, LOC129929207, LOC129929208, LOC129929209, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132090658, LRRC47, MEGF6, MIB2, MIR200A, MIR200B, MIR4251, MIR429, MIR551A, MIR6726, MIR6727, MIR6808, MMEL1, MMEL1-AS1, MMP23B, MORN1, MRPL20, MRPL20-AS1, MRPL20-DT, MXRA8, NADK, NOC2L, PANK4, PERM1, PEX10, PLCH2, PLEKHN1, PRDM16, PRDM16-DT, PRKCZ, PRKCZ-AS1, PRKCZ-DT, PRXL2B, PUSL1, RER1, RNF223, SAMD11, SCNN1D, SDF4, SKI, SLC35E2A, SLC35E2B, SMIM1, SNORD167, SSU72, TAS1R3, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF4, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, VWA1, WRAP73
See casesLikely pathogenic
(Jun 1, 2012)
no assertion criteria provided
17.
GRCh37:
Chr1:757093-5299703
GRCh38:
Chr1:821713-5239643
ACAP3, ACTRT2, AGRN, AJAP1, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf159, C1orf174, CALML6, CCDC27, CCNL2, CDK11A, CDK11B, CEP104, CFAP74, CPTP, DFFB, DVL1, FAAP20, FAM41C, FNDC10, GABRD, GNB1, GNB1-DT, HES4, HES5, INTS11, ISG15, KLHL17, LINC00115, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01770, LINC01777, LINC01786, LINC02593, LINC02780, LINC02782, LOC100288175, LOC100996583, LOC105378586, LOC105378604, LOC105378948, LOC106783496, LOC107985728, LOC108281140, LOC110120751, LOC110121223, LOC110599576, LOC112268219, LOC112577469, LOC112577524, LOC112577525, LOC112577578, LOC112577579, LOC112577581, LOC115801415, LOC120851201, LOC121677382, LOC121677383, LOC121677384, LOC121967042, LOC121967043, LOC121967044, LOC121967045, LOC121967046, LOC121967047, LOC121967048, LOC121967049, LOC121967050, LOC121967051, LOC121967052, LOC124903827, LOC126805576, LOC126805577, LOC126805578, LOC126805579, LOC126805580, LOC126805581, LOC126805582, LOC126805583, LOC126805584, LOC126805585, LOC126805586, LOC126805587, LOC126805588, LOC126805589, LOC126805590, LOC126805591, LOC126805592, LOC128505377, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129929057, LOC129929058, LOC129929059, LOC129929060, LOC129929061, LOC129929062, LOC129929063, LOC129929064, LOC129929065, LOC129929066, LOC129929067, LOC129929068, LOC129929069, LOC129929070, LOC129929071, LOC129929072, LOC129929073, LOC129929074, LOC129929075, LOC129929076, LOC129929077, LOC129929078, LOC129929079, LOC129929080, LOC129929081, LOC129929082, LOC129929083, LOC129929084, LOC129929085, LOC129929086, LOC129929087, LOC129929088, LOC129929089, LOC129929090, LOC129929091, LOC129929092, LOC129929093, LOC129929094, LOC129929095, LOC129929096, LOC129929097, LOC129929098, LOC129929099, LOC129929100, LOC129929101, LOC129929102, LOC129929103, LOC129929104, LOC129929105, LOC129929106, LOC129929107, LOC129929108, LOC129929109, LOC129929110, LOC129929111, LOC129929112, LOC129929113, LOC129929114, LOC129929115, LOC129929116, LOC129929117, LOC129929118, LOC129929119, LOC129929120, LOC129929121, LOC129929122, LOC129929123, LOC129929124, LOC129929125, LOC129929126, LOC129929127, LOC129929128, LOC129929129, LOC129929130, LOC129929131, LOC129929132, LOC129929133, LOC129929134, LOC129929135, LOC129929136, LOC129929137, LOC129929138, LOC129929139, LOC129929140, LOC129929141, LOC129929142, LOC129929143, LOC129929144, LOC129929145, LOC129929146, LOC129929147, LOC129929148, LOC129929149, LOC129929150, LOC129929151, LOC129929152, LOC129929153, LOC129929154, LOC129929155, LOC129929156, LOC129929157, LOC129929158, LOC129929159, LOC129929160, LOC129929161, LOC129929162, LOC129929163, LOC129929164, LOC129929165, LOC129929166, LOC129929167, LOC129929168, LOC129929169, LOC129929170, LOC129929171, LOC129929172, LOC129929173, LOC129929174, LOC129929175, LOC129929176, LOC129929177, LOC129929178, LOC129929179, LOC129929180, LOC129929181, LOC129929182, LOC129929183, LOC129929184, LOC129929185, LOC129929186, LOC129929187, LOC129929188, LOC129929189, LOC129929190, LOC129929191, LOC129929192, LOC129929193, LOC129929194, LOC129929195, LOC129929196, LOC129929197, LOC129929198, LOC129929199,