| - GRCh37:
- Chr1:779727-12530188
- GRCh38:
- Chr1:844347-12470133
| TMEM201, TMEM240, TMEM52, TMEM88B, TNFRSF14, TNFRSF14-AS1, TNFRSF18, TNFRSF1B, TNFRSF25, TNFRSF4, TNFRSF8, TNFRSF9, TP73, TP73-AS1, TP73-AS2, TP73-AS3, TPRG1L, TTC34, TTLL10, TTLL10-AS1, UBE2J2, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, VWA1, WRAP73, ZBTB48, ACAP3, ACOT7, ACTRT2, AGRN, AGTRAP, AJAP1, ANGPTL7, ANKRD65, ANKRD65-AS1, ARHGEF16, ATAD3A, ATAD3B, ATAD3C, AURKAIP1, B3GALT6, C1QTNF12, C1orf127, C1orf159, C1orf167, C1orf167-AS1, C1orf174, CA6, CALML6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CCDC27, CCNL2, CDK11A, CDK11B, CENPS, CENPS-CORT, CEP104, CFAP74, CHD5, CLCN6, CLSTN1, CORT, CPTP, CTNNBIP1, DFFA, DFFB, DISP3, DNAJC11, DRAXIN, DVL1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FAAP20, FAM41C, FBXO2, FBXO44, FBXO6, FNDC10, GABRD, GNB1, GNB1-DT, GPR153, GPR157, H6PD, HES2, HES3, HES4, HES5, ICMT, ICMT-DT, INTS11, ISG15, KCNAB2, KIAA2013, KIF1B, KLHL17, KLHL21, LINC01128, LINC01134, LINC01342, LINC01345, LINC01346, LINC01646, LINC01647, LINC01672, LINC01714, LINC01770, LINC01777, LINC01786, LINC02593, LINC02606, LINC02780, LINC02782, LNCTAM34A, LOC100288175, LOC100996583, LOC105376689, LOC105378586, LOC105378604, 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, LOC129388419, LOC129388420, LOC129388421, LOC129388422, LOC129388423, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC132088605, LOC132088687, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132088746, LOC132090658, LOC132205951, LOC132205952, LRRC47, LZIC, MAD2L2, MASP2, MEGF6, MFN2, MIB2, MIIP, MIR200A, MIR200B, MIR34A, MIR34AHG, MIR4251, MIR4252, MIR429, 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 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - 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, 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, LINC02780, LINC02782, LINC02783, LNCTAM34A, LOC105376689, LOC105376805, LOC105378604, 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, LOC129388424, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, LOC129388457, LOC129388458, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC129929458, LOC129929459, LOC129929460, LOC129929461, LOC129929462, LOC129929463, LOC129929464, LOC129929465, LOC129929466, LOC129929467, LOC129929468, LOC129929469, LOC129929470, LOC129929471, LOC129929472, LOC129929473, LOC129929474, LOC129929475, LOC129929476, LOC129929477, LOC129929478, LOC129929479, LOC129929480, LOC129929481, LOC129929482, LOC129929483, LOC129929484, LOC129929485, LOC129929486, LOC129929487, LOC129929488, LOC129929489, LOC129929490, LOC129929491, LOC129929492, LOC129929493, LOC129929494, LOC129929495, LOC129929496, LOC129929497, LOC129929498, LOC129929499, LOC129929500, LOC129929501, LOC129929502, LOC129929503, LOC129929504, LOC129929505, LOC129929506, LOC129929507, LOC129929508, LOC129929509, LOC129929510, LOC129929511, LOC129929512, LOC129929513, LOC129929514, LOC129929515, LOC129929516, LOC129929517, LOC129929518, LOC129929519, LOC129929520, LOC129929521, LOC129929522, LOC129929523, LOC129929524, LOC129929525, LOC129929526, LOC129929527, LOC129929528, LOC129929529, LOC129929530, LOC129929531, LOC129929532, LOC129929533, LOC129929534, LOC129929535, LOC129929536, LOC129929537, LOC129929538, LOC129929539, LOC129929540, LOC129929541, LOC129929542, LOC129929543, LOC129929544, LOC129929545, LOC129929546, LOC129929547, LOC129929548, LOC129929549, LOC132088624, LOC132088625, LOC132088626, LOC132088642, LOC132088643, LOC132088645, LOC132088688, LOC132088689, LOC132088690, LOC132088694, LOC132088704, LOC132088707, LOC132088708, LOC132088720, LOC132088746, LOC132090658, LOC132205951, LOC132205952, LRRC38, LRRC47, LZIC, MAD2L2, MASP2, MEGF6, MFAP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR3675, MIR3972, MIR4251, MIR4252, 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, 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-AS2, TP73-AS3, TPRG1L, TRE-TTC3-1, TRE-TTC4-1, TRG-CCC1-1, TRG-CCC1-2, TRG-CCC4-1, TRG-CCC5-1, TRN-GTT13-1, TRN-GTT4-1, TRN-GTT5-1, TRQ-CTG14-1, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, WRAP73, ZBTB17, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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, LOC105376689, 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, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC132088624, LOC132088746, LOC132205952, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR4252, MIR4632, MIR4689, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF4, RBP7, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU5E-1, RPL22, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, ZBTB48 | | See cases | Pathogenic (Sep 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:4958499-13178528
- GRCh38:
- Chr1:4898439-13111056
| AADACL3, AADACL4, ACOT7, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CFAP107, CHD5, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DNAJC11, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR153, GPR157, H6PD, HES2, HES3, HNRNPCL1, HNRNPCL3, ICMT, ICMT-DT, KCNAB2, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LINC02782, LNCTAM34A, LOC105376689, 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, LOC129388425, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC132088624, LOC132088746, LOC132205952, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR4252, MIR4632, MIR4689, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NOL9, NPHP4, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF25, PRAMEF27, PRAMEF4, PRAMEF6, PRAMEF7, RBP7, RERE, RERE-AS1, RNF207, RNF207-AS1, RNU5E-1, RPL22, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, ZBTB48 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:5423886-18686796
- GRCh38:
- Chr1:5363826-18360302
| LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC129929458, LOC129929459, LOC129929460, LOC129929461, LOC129929462, LOC129929463, LOC129929464, LOC129929465, LOC129929466, LOC129929467, LOC129929468, LOC129929469, LOC129929470, LOC129929471, LOC129929472, LOC129929473, LOC129929474, LOC129929475, LOC129929476, LOC129929477, LOC129929478, LOC129929479, LOC129929480, LOC129929481, LOC129929482, LOC129929483, LOC129929484, LOC129929485, LOC129929486, LOC129929487, LOC129929488, LOC129929489, LOC129929490, LOC129929491, LOC129929492, LOC129929493, LOC129929494, LOC129929495, LOC129929496, LOC129929497, LOC129929498, LOC129929499, LOC129929500, LOC129929501, LOC129929502, LOC129929503, LOC129929504, LOC129929505, LOC129929506, LOC129929507, LOC129929508, LOC129929509, LOC129929510, LOC129929511, LOC129929512, LOC129929513, LOC129929514, LOC129929515, LOC129929516, LOC129929517, LOC129929518, LOC129929519, LOC129929520, LOC129929521, LOC129929522, LOC129929523, LOC129929524, LOC129929525, LOC129929526, LOC129929527, LOC129929528, LOC129929529, LOC129929530, LOC129929531, LOC129929532, LOC129929533, LOC129929534, LOC129929535, LOC129929536, LOC129929537, LOC129929538, LOC129929539, LOC129929540, LOC129929541, LOC129929542, LOC129929543, LOC129929544, LOC129929545, LOC129929546, LOC129929547, LOC129929548, LOC129929549, LOC132088624, LOC132088625, LOC132088626, LOC132088642, LOC132088643, LOC132088645, LOC132088746, LOC132205952, LRRC38, LZIC, MAD2L2, MASP2, MFAP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR3675, MIR3972, MIR4252, 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, 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, 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, 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, LOC105376689, 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, LOC129388426, LOC129388427, LOC129388428, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, LOC129388457, LOC129388458, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr1:6363701-16125588
- GRCh38:
- Chr1:6303641-15799093
| AADACL3, AADACL4, ACOT7, AGMAT, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CLCN6, CLSTN1, CORT, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, ESPN, EXOSC10, EXOSC10-AS1, FBLIM1, FBXO2, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR157, H6PD, HES2, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, KAZN, KAZN-AS1, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LNCTAM34A, LOC105376689, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120851202, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967058, LOC121967059, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC126805598, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC129388429, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC129929458, LOC129929459, LOC129929460, LOC129929461, LOC129929462, LOC129929463, LOC129929464, LOC129929465, LOC129929466, LOC129929467, LOC129929468, LOC129929469, LOC129929470, LOC129929471, LOC129929472, LOC129929473, LOC129929474, LOC129929475, LOC129929476, LOC129929477, LOC129929478, LOC129929479, LOC129929480, LOC129929481, LOC129929482, LOC129929483, LOC129929484, LOC129929485, LOC129929486, LOC129929487, LOC129929488, LOC129929489, LOC129929490, LOC129929491, LOC129929492, LOC129929493, LOC129929494, LOC129929495, LOC129929496, LOC129929497, LOC129929498, LOC129929499, LOC129929500, LOC129929501, LOC132088624, LOC132088625, LOC132088626, LOC132088642, LOC132088643, LOC132088645, LOC132088746, LOC132205952, LRRC38, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR4252, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NOL9, NPPA, NPPA-AS1, NPPB, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHG5, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RERE, RERE-AS1, RNU5E-1, RSC1A1, SCARNA21B, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF25, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D, ZBTB48 | | See cases | Pathogenic (Nov 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr1:6614945-16382506
- GRCh38:
- Chr1:6554885-16056011
| PRAMEF7, PRAMEF8, PRAMEF9, PRDM2, RBP7, RERE, RERE-AS1, RNU5E-1, RSC1A1, SCARNA21B, SLC25A33, SLC25A34, SLC25A34-AS1, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPEN, SPEN-AS1, SPSB1, SRARP, SRM, TARDBP, TAS1R1, THAP3, TMEM201, TMEM51, TMEM51-AS1, TMEM51-AS2, TMEM82, TNFRSF1B, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UQCRHL, UTS2, VAMP3, VPS13D, ZBTB17, ZBTB48, AADACL3, AADACL4, AGMAT, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASP9, CASZ1, CELA2A, CELA2B, CENPS, CENPS-CORT, CFAP107, CLCN6, CLCNKA, CLCNKB, CLSTN1, CORT, CTNNBIP1, CTRC, DDI2, DFFA, DHRS3, DISP3, DNAJC11, DNAJC16, DRAXIN, EFHD2, EFHD2-AS1, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, EXOSC10, EXOSC10-AS1, FBLIM1, FBXO2, FBXO44, FBXO6, FHAD1, FHAD1-AS1, GPR157, H6PD, HNRNPCL1, HNRNPCL2, HNRNPCL3, HNRNPCL4, HSPB7, KAZN, KAZN-AS1, KIAA2013, KIF1B, KLHL21, LINC01647, LINC01672, LINC01714, LINC01784, LINC02606, LINC02766, LNCTAM34A, LOC105376689, LOC106501712, LOC106501713, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111562380, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112577491, LOC112577504, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC122056768, LOC122056769, LOC122056770, LOC122056771, LOC122056772, LOC126805599, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC126805623, LOC126805624, LOC126805625, LOC126805626, LOC126805627, LOC126805628, LOC126805629, LOC126805630, LOC126805631, LOC126805632, LOC126805633, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129388454, LOC129388455, LOC129388456, LOC129388457, LOC129388458, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC129929458, LOC129929459, LOC129929460, LOC129929461, LOC129929462, LOC129929463, LOC129929464, LOC129929465, LOC129929466, LOC129929467, LOC129929468, LOC129929469, LOC129929470, LOC129929471, LOC129929472, LOC129929473, LOC129929474, LOC129929475, LOC129929476, LOC129929477, LOC129929478, LOC129929479, LOC129929480, LOC129929481, LOC129929482, LOC129929483, LOC129929484, LOC129929485, LOC129929486, LOC129929487, LOC129929488, LOC129929489, LOC129929490, LOC129929491, LOC129929492, LOC129929493, LOC129929494, LOC129929495, LOC129929496, LOC129929497, LOC129929498, LOC129929499, LOC129929500, LOC129929501, LOC129929502, LOC129929503, LOC129929504, LOC129929505, LOC129929506, LOC129929507, LOC129929508, LOC129929509, LOC129929510, LOC129929511, LOC129929512, LOC129929513, LOC129929514, LOC129929515, LOC129929516, LOC129929517, LOC132088624, LOC132088625, LOC132088626, LOC132088642, LOC132088643, LOC132088645, LOC132088746, LOC132205952, LRRC38, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1, NPPB, PARK7, PDPN, PER3, PEX14, PGD, PHF13, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLEKHM2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF13, PRAMEF14, PRAMEF15, PRAMEF17, PRAMEF18, PRAMEF19, PRAMEF2, PRAMEF20, PRAMEF25, PRAMEF26, PRAMEF27, PRAMEF33, PRAMEF4, PRAMEF5, PRAMEF6 | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr1:6712399-12784811
- GRCh38:
- Chr1:6652339-12724844
| AADACL3, AADACL4, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-AS3, CAMTA1-DT, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DNAJC11, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR157, H6PD, KIAA2013, KIF1B, LINC01647, LINC01672, LINC01714, LINC02606, LINC02766, LNCTAM34A, LOC105376689, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967060, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC126805600, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC129388430, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, 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, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC132088624, LOC132088746, LOC132205952, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLOD1, RBP7, RERE, RERE-AS1, RNU5E-1, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:7225096-13178528
- GRCh38:
- Chr1:7165036-13111056
| AADACL3, AADACL4, AGTRAP, ANGPTL7, C1orf127, C1orf167, C1orf167-AS1, CA6, CAMTA1, CAMTA1-AS1, CAMTA1-AS2, CAMTA1-IT1, CASZ1, CENPS, CENPS-CORT, CFAP107, CLCN6, CLSTN1, CORT, CTNNBIP1, DFFA, DHRS3, DISP3, DRAXIN, ENO1, ENO1-AS1, ERRFI1, ERRFI1-DT, EXOSC10, EXOSC10-AS1, FBXO2, FBXO44, FBXO6, GPR157, H6PD, HNRNPCL1, HNRNPCL3, KIAA2013, KIF1B, LINC01647, LINC01714, LINC01784, LINC02606, LINC02766, LNCTAM34A, LOC105376689, LOC106783575, LOC108281189, LOC110120623, LOC110120648, LOC110120666, LOC110120672, LOC110121160, LOC110121213, LOC110121258, LOC110121260, LOC111591499, LOC112577472, LOC112577486, LOC112577487, LOC112577488, LOC112590821, LOC112590822, LOC112590823, LOC112590825, LOC114827827, LOC115801416, LOC120883620, LOC120883621, LOC120883622, LOC120883623, LOC120893113, LOC121677386, LOC121967061, LOC121967062, LOC121967063, LOC121967064, LOC121967065, LOC121967066, LOC121967067, LOC121967068, LOC121967069, LOC121967070, LOC121967071, LOC121967072, LOC121967073, LOC121967074, LOC121967075, LOC121967076, LOC121967077, LOC121967078, LOC121967079, LOC121967080, LOC121967081, LOC121967082, LOC121967083, LOC126805601, LOC126805602, LOC126805603, LOC126805604, LOC126805605, LOC126805606, LOC126805607, LOC126805608, LOC126805609, LOC126805610, LOC126805611, LOC126805612, LOC126805613, LOC126805614, LOC126805615, LOC126805616, LOC126805617, LOC126805618, LOC126805619, LOC126805620, LOC126805621, LOC126805622, LOC129388431, LOC129388432, LOC129388433, LOC129388434, LOC129388435, LOC129388436, LOC129388437, LOC129388438, LOC129388439, LOC129388440, LOC129388441, LOC129388442, LOC129388443, LOC129388444, LOC129388445, LOC129388446, LOC129388447, LOC129388448, LOC129388449, LOC129388450, LOC129388451, LOC129388452, LOC129388453, LOC129929274, LOC129929275, LOC129929276, LOC129929277, LOC129929278, LOC129929279, LOC129929280, LOC129929281, LOC129929282, LOC129929283, LOC129929284, LOC129929285, LOC129929286, LOC129929287, LOC129929288, LOC129929289, LOC129929290, LOC129929291, LOC129929292, LOC129929293, LOC129929294, LOC129929295, LOC129929296, LOC129929297, LOC129929298, LOC129929299, LOC129929300, LOC129929301, LOC129929302, LOC129929303, LOC129929304, LOC129929305, LOC129929306, LOC129929307, LOC129929308, LOC129929309, LOC129929310, LOC129929311, LOC129929312, LOC129929313, LOC129929314, LOC129929315, LOC129929316, LOC129929317, LOC129929318, LOC129929319, LOC129929320, LOC129929321, LOC129929322, LOC129929323, LOC129929324, LOC129929325, LOC129929326, LOC129929327, LOC129929328, LOC129929329, LOC129929330, LOC129929331, LOC129929332, LOC129929333, LOC129929334, LOC129929335, LOC129929336, LOC129929337, LOC129929338, LOC129929339, LOC129929340, LOC129929341, LOC129929342, LOC129929343, LOC129929344, LOC129929345, LOC129929346, LOC129929347, LOC129929348, LOC129929349, LOC129929350, LOC129929351, LOC129929352, LOC129929353, LOC129929354, LOC129929355, LOC129929356, LOC129929357, LOC129929358, LOC129929359, LOC129929360, LOC129929361, LOC129929362, LOC129929363, LOC129929364, LOC129929365, LOC129929366, LOC129929367, LOC129929368, LOC129929369, LOC129929370, LOC129929371, LOC129929372, LOC129929373, LOC129929374, LOC129929375, LOC129929376, LOC129929377, LOC129929378, LOC129929379, LOC129929380, LOC129929381, LOC129929382, LOC129929383, LOC129929384, LOC129929385, LOC129929386, LOC129929387, LOC129929388, LOC129929389, LOC129929390, LOC129929391, LOC129929392, LOC129929393, LOC129929394, LOC129929395, LOC129929396, LOC129929397, LOC129929398, LOC129929399, LOC129929400, LOC129929401, LOC129929402, LOC129929403, LOC129929404, LOC129929405, LOC129929406, LOC129929407, LOC129929408, LOC129929409, LOC129929410, LOC129929411, LOC129929412, LOC129929413, LOC129929414, LOC129929415, LOC129929416, LOC129929417, LOC129929418, LOC129929419, LOC129929420, LOC129929421, LOC129929422, LOC129929423, LOC129929424, LOC129929425, LOC129929426, LOC129929427, LOC129929428, LOC129929429, LOC129929430, LOC129929431, LOC129929432, LOC129929433, LOC129929434, LOC129929435, LOC129929436, LOC129929437, LOC129929438, LOC129929439, LOC129929440, LOC129929441, LOC129929442, LOC129929443, LOC129929444, LOC129929445, LOC129929446, LOC129929447, LOC129929448, LOC129929449, LOC129929450, LOC129929451, LOC129929452, LOC129929453, LOC129929454, LOC129929455, LOC129929456, LOC129929457, LOC132088624, LOC132088746, LOC132205952, LZIC, MAD2L2, MASP2, MFN2, MIIP, MIR34A, MIR34AHG, MIR4632, MIR5697, MIR6728, MIR6729, MIR6730, MIR7846, MTHFR, MTOR, MTOR-AS1, NMNAT1, NPPA, NPPA-AS1, NPPB, PARK7, PER3, PEX14, PGD, PIK3CD, PIK3CD-AS1, PIK3CD-AS2, PLOD1, PRAMEF1, PRAMEF10, PRAMEF11, PRAMEF12, PRAMEF2, PRAMEF25, PRAMEF27, PRAMEF4, PRAMEF6, PRAMEF7, RBP7, RERE, RERE-AS1, RNU5E-1, SLC25A33, SLC2A5, SLC2A7, SLC45A1, SNORA59A, SNORD128, SPSB1, SRM, TARDBP, TMEM201, TNFRSF1B, TNFRSF8, TNFRSF9, UBE4B, UBIAD1, UTS2, VAMP3, VPS13D | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr1:8343754-12530188
- GRCh38:
- Chr1:8283694-12470133
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