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Items: 1 to 100 of 1686

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr16:73141-1762524
GRCh38:
Chr16:23141-1712523
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, IFT140, JMJD8, JPT2, LINC00235, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC101929440, LOC105371038, LOC105371046, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112441449, LOC115253417, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121847967, LOC125146371, LOC126862260, LOC129390753, LOC130058083, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC132090370, LOC132090437, LUC7L, MAPK8IP3, MCRIP2, METRN, METTL26, MIR3176, MIR5587, MIR662, MPG, MRPL28, MSLN, NHLRC4, NME4, NPRL3, PDIA2, PERCC1, PGAP6, PIGQ, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RPUSD1, SNRNP25, SOX8, SSTR5, SSTR5-AS1, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRG-CCC2-2, TSR3, UBE2I, UNKL, UQCC4, WASIR2, WDR24, WDR90, WFIKKN1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr16:73141-1823350
GRCh38:
Chr16:23141-1773349
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, EME2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, IFT140, JMJD8, JPT2, LINC00235, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC101929440, LOC105371038, LOC105371046, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112441449, LOC115253417, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121847967, LOC125146371, LOC126862260, LOC129390753, LOC130058083, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC132090370, LOC132090437, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, METRN, METTL26, MIR3176, MIR3177, MIR5587, MIR662, MPG, MRPL28, MRPS34, MSLN, NHLRC4, NME3, NME4, NPRL3, PDIA2, PERCC1, PGAP6, PIGQ, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RPUSD1, SNRNP25, SOX8, SSTR5, SSTR5-AS1, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRG-CCC2-2, TSR3, UBE2I, UNKL, UQCC4, WASIR2, WDR24, WDR90, WFIKKN1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr16:73141-11390552
GRCh38:
Chr16:23141-11296695
LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC129390753, LOC129390754, LOC129390755, LOC129390756, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC130058083, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, LOC130058229, LOC130058230, LOC130058231, LOC130058232, LOC130058233, LOC130058234, LOC130058235, LOC130058236, LOC130058237, LOC130058238, LOC130058239, LOC130058240, LOC130058241, LOC130058242, LOC130058243, LOC130058244, LOC130058245, LOC130058246, LOC130058247, LOC130058248, LOC130058249, LOC130058250, LOC130058251, LOC130058252, LOC130058253, LOC130058254, LOC130058255, LOC130058256, LOC130058257, LOC130058258, LOC130058259, LOC130058260, LOC130058261, LOC130058262, LOC130058263, LOC130058264, LOC130058265, LOC130058266, LOC130058267, LOC130058268, LOC130058269, LOC130058270, LOC130058271, LOC130058272, LOC130058273, LOC130058274, LOC130058275, LOC130058276, LOC130058277, LOC130058278, LOC130058279, LOC130058280, LOC130058281, LOC130058282, LOC130058283, LOC130058284, LOC130058285, LOC130058286, LOC130058287, LOC130058288, LOC130058289, LOC130058290, LOC130058291, LOC130058292, LOC130058293, LOC130058294, LOC130058295, LOC130058296, LOC130058297, LOC130058298, LOC130058299, LOC130058300, LOC130058301, LOC130058302, LOC130058303, LOC130058304, LOC130058305, LOC130058306, LOC130058307, LOC130058308, LOC130058309, LOC130058310, LOC130058311, LOC130058312, LOC130058313, LOC130058314, LOC130058315, LOC130058316, LOC130058317, LOC130058318, LOC130058319, LOC130058320, LOC130058321, LOC130058322, LOC130058323, LOC130058324, LOC130058325, LOC130058326, LOC130058327, LOC130058328, LOC130058329, LOC130058330, LOC130058331, LOC130058332, LOC130058333, LOC130058334, LOC130058335, LOC130058336, LOC130058337, LOC130058338, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, LOC130058379, LOC130058380, LOC130058381, LOC130058382, LOC130058383, LOC130058384, LOC130058385, LOC130058386, LOC130058387, LOC130058388, LOC130058389, LOC130058390, LOC130058391, LOC130058392, LOC130058393, LOC130058394, LOC130058395, LOC130058396, LOC130058397, LOC130058398, LOC130058399, LOC130058400, LOC130058401, LOC130058402, LOC130058403, LOC130058404, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426, LOC130058427, LOC130058428, LOC130058429, LOC130058430, LOC130058431, LOC130058432, LOC130058433, LOC130058434, LOC130058435, LOC130058436, LOC130058437, LOC130058438, LOC130058439, LOC130058440, LOC130058441, LOC130058442, LOC130058443, LOC130058444, LOC130058445, LOC130058446, LOC130058447, LOC130058448, LOC130058449, LOC130058450, LOC130058451, LOC130058452, LOC130058453, LOC130058454, LOC130058455, LOC130058456, LOC130058457, LOC130058458, LOC130058459, LOC130058460, LOC130058461, LOC130058462, LOC130058463, LOC130058464, LOC130058465, LOC130058466, LOC130058467, LOC130058468, LOC130058469, LOC130058470, LOC130058471, LOC130058472, LOC130058473, LOC130058474, LOC130058475, LOC130058476, LOC130058477, LOC130058478, LOC130058479, LOC130058480, LOC130058481, LOC130058482, LOC130058483, LOC132090370, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132090399, LOC132090437, LOC132205950, LOC132211111, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CARHSP1-DT, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ECI1-AS1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HAPSTR1, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927026, LOC101929440, LOC101929566, LOC105371038, LOC105371046, LOC105371050, LOC105371062, LOC105371079, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112340386, LOC112340387, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WASIR2, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr16:79941-2610461
GRCh38:
Chr16:29941-2560460
ABCA3, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, DNASE1L2, E4F1, ECI1, ECI1-AS1, EME2, FAHD1, FAM234A, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC101929440, LOC105371038, LOC105371046, LOC105371050, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121847967, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC126862260, LOC129390753, LOC129390754, LOC130058083, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, LOC130058229, LOC130058230, LOC130058231, LOC130058232, LOC130058233, LOC130058234, LOC130058235, LOC130058236, LOC130058237, LOC130058238, LOC130058239, LOC130058240, LOC130058241, LOC130058242, LOC130058243, LOC130058244, LOC130058245, LOC130058246, LOC130058247, LOC130058248, LOC130058249, LOC130058250, LOC130058251, LOC130058252, LOC130058253, LOC130058254, LOC130058255, LOC130058256, LOC130058257, LOC132090370, LOC132090437, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG19, SNHG9, SNORA10, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRG-CCC2-2, WDR90, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WFIKKN1, ZNF598
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr16:93732-13420663
GRCh38:
Chr16:43732-13326806
OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, TXNDC11, TXNDC11-AS1, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, LOC130058229, LOC130058230, LOC130058231, LOC130058232, LOC130058233, LOC130058234, LOC130058235, LOC130058236, LOC130058237, LOC130058238, LOC130058239, LOC130058240, LOC130058241, LOC130058242, LOC130058243, LOC130058244, LOC130058245, LOC130058246, LOC130058247, LOC130058248, LOC130058249, LOC130058250, LOC130058251, LOC130058252, LOC130058253, LOC130058254, LOC130058255, LOC130058256, LOC130058257, LOC130058258, LOC130058259, LOC130058260, LOC130058261, LOC130058262, LOC130058263, LOC130058264, LOC130058265, LOC130058266, LOC130058267, LOC130058268, LOC130058269, LOC130058270, LOC130058271, LOC130058272, LOC130058273, LOC130058274, LOC130058275, LOC130058276, LOC130058277, LOC130058278, LOC130058279, LOC130058280, LOC130058281, LOC130058282, LOC130058283, LOC130058284, LOC130058285, LOC130058286, LOC130058287, LOC130058288, LOC130058289, LOC130058290, LOC130058291, LOC130058292, LOC130058293, LOC130058294, LOC130058295, LOC130058296, LOC130058297, LOC130058298, LOC130058299, LOC130058300, LOC130058301, LOC130058302, LOC130058303, LOC130058304, LOC130058305, LOC130058306, LOC130058307, LOC130058308, LOC130058309, LOC130058310, LOC130058311, LOC130058312, LOC130058313, LOC130058314, LOC130058315, LOC130058316, LOC130058317, LOC130058318, LOC130058319, LOC130058320, LOC130058321, LOC130058322, LOC130058323, LOC130058324, LOC130058325, LOC130058326, LOC130058327, LOC130058328, LOC130058329, LOC130058330, LOC130058331, LOC130058332, LOC130058333, LOC130058334, LOC130058335, LOC130058336, LOC130058337, LOC130058338, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, LOC130058379, LOC130058380, LOC130058381, LOC130058382, LOC130058383, LOC130058384, LOC130058385, LOC130058386, LOC130058387, LOC130058388, LOC130058389, LOC130058390, LOC130058391, LOC130058392, LOC130058393, LOC130058394, LOC130058395, LOC130058396, LOC130058397, LOC130058398, LOC130058399, LOC130058400, LOC130058401, LOC130058402, LOC130058403, LOC130058404, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426, LOC130058427, LOC130058428, LOC130058429, LOC130058430, LOC130058431, LOC130058432, LOC130058433, LOC130058434, LOC130058435, LOC130058436, LOC130058437, LOC130058438, LOC130058439, LOC130058440, LOC130058441, LOC130058442, LOC130058443, LOC130058444, LOC130058445, LOC130058446, LOC130058447, LOC130058448, LOC130058449, LOC130058450, LOC130058451, LOC130058452, LOC130058453, LOC130058454, LOC130058455, LOC130058456, LOC130058457, LOC130058458, LOC130058459, LOC130058460, LOC130058461, LOC130058462, LOC130058463, LOC130058464, LOC130058465, LOC130058466, LOC130058467, LOC130058468, LOC130058469, LOC130058470, LOC130058471, LOC130058472, LOC130058473, LOC130058474, LOC130058475, LOC130058476, LOC130058477, LOC130058478, LOC130058479, LOC130058480, LOC130058481, LOC130058482, LOC130058483, LOC130058484, LOC130058485, LOC130058486, LOC130058487, LOC130058488, LOC130058489, LOC130058490, LOC130058491, LOC130058492, LOC130058493, LOC130058494, LOC130058495, LOC130058496, LOC130058497, LOC130058498, LOC130058499, LOC130058500, LOC130058501, LOC130058502, LOC130058503, LOC130058504, LOC130058505, LOC130058506, LOC130058507, LOC130058508, LOC130058509, LOC130058510, LOC130058511, LOC130058512, LOC130058513, LOC130058514, LOC130058515, LOC130058516, LOC130058517, LOC130058518, LOC130058519, LOC130058520, LOC130058521, LOC130058522, LOC130058523, LOC130058524, LOC130058525, LOC130058526, LOC130058527, LOC130058528, LOC130058529, LOC130058530, LOC130058531, LOC130058532, LOC130058533, LOC130058534, LOC130058535, LOC130058536, LOC132090370, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132090399, LOC132090437, LOC132205950, LOC132211111, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPIPB2, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BCAR4, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CARHSP1-DT, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ECI1-AS1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HAPSTR1, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927026, LOC101927131, LOC101927227, LOC101929440, LOC101929566, LOC105371038, LOC105371046, LOC105371050, LOC105371062, LOC105371079, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC129390753, LOC129390754, LOC129390755, LOC129390756, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC129390768, LOC129390769, LOC130058084, LOC130058085
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
6.
GRCh37:
Chr16:96722-1917328
GRCh38:
Chr16:46722-1867327
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, EME2, FAHD1, FAM234A, FBXL16, GNG13, GNPTG, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, IFT140, IGFALS, JMJD8, JPT2, LINC00235, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC101929440, LOC105371038, LOC105371046, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112441449, LOC115253417, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121847967, LOC125146371, LOC125146372, LOC126862260, LOC129390753, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC132090370, LOC132090437, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR3176, MIR3177, MIR5587, MIR662, MPG, MRPL28, MRPS34, MSLN, NHLRC4, NME3, NME4, NPRL3, NUBP2, PDIA2, PERCC1, PGAP6, PIGQ, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RPUSD1, SNRNP25, SOX8, SPSB3, SSTR5, SSTR5-AS1, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRG-CCC2-2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
7.
GRCh37:
Chr16:96766-4297186
GRCh38:
Chr16:46766-4247185
LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, LOC130058229, LOC130058230, LOC130058231, LOC130058232, LOC130058233, LOC130058234, LOC130058235, LOC130058236, LOC130058237, LOC130058238, LOC130058239, LOC130058240, LOC130058241, LOC130058242, LOC130058243, LOC130058244, LOC130058245, LOC130058246, LOC130058247, LOC130058248, LOC130058249, LOC130058250, LOC130058251, LOC130058252, LOC130058253, LOC130058254, LOC130058255, LOC130058256, LOC130058257, LOC130058258, LOC130058259, LOC130058260, LOC130058261, LOC130058262, LOC130058263, LOC130058264, LOC130058265, LOC130058266, LOC130058267, LOC130058268, LOC130058269, LOC130058270, LOC130058271, LOC130058272, LOC130058273, LOC130058274, LOC130058275, LOC130058276, LOC130058277, LOC130058278, LOC130058279, LOC130058280, LOC130058281, LOC130058282, LOC130058283, LOC130058284, LOC130058285, LOC130058286, LOC130058287, LOC130058288, LOC130058289, LOC130058290, LOC130058291, LOC130058292, LOC130058293, LOC130058294, LOC130058295, LOC130058296, LOC130058297, LOC130058298, LOC130058299, LOC130058300, LOC130058301, LOC130058302, LOC130058303, LOC130058304, LOC130058305, LOC130058306, LOC130058307, LOC130058308, LOC130058309, LOC130058310, LOC130058311, LOC130058312, LOC130058313, LOC130058314, LOC130058315, LOC130058316, LOC130058317, LOC130058318, LOC130058319, LOC130058320, LOC130058321, LOC130058322, LOC130058323, LOC130058324, LOC130058325, LOC130058326, LOC130058327, LOC130058328, LOC130058329, LOC130058330, LOC130058331, LOC130058332, LOC130058333, LOC130058334, LOC130058335, LOC130058336, LOC130058337, LOC130058338, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC132090370, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132090437, LOC132211111, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLX4, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ECI1-AS1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01569, LINC02124, LINC02861, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929440, LOC101929566, LOC105371038, LOC105371046, LOC105371050, LOC105371062, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121847967, LOC121847968, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC129390753, LOC129390754, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
8.
GRCh37:
Chr16:96766-1594015
GRCh38:
Chr16:46766-1544014
ANTKMT, ARHGDIG, AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CEROX1, CHTF18, CIAO3, CLCN7, DECR2, FAM234A, FBXL16, GNG13, GNPTG, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, IFT140, JMJD8, LINC00235, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC101929440, LOC105371038, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112441449, LOC115253417, LOC121530606, LOC121530607, LOC121530608, LOC121847967, LOC126862260, LOC129390753, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC132090370, LOC132090437, LUC7L, MCRIP2, METRN, METTL26, MIR3176, MIR5587, MIR662, MPG, MRPL28, MSLN, NHLRC4, NME4, NPRL3, PDIA2, PERCC1, PGAP6, PIGQ, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RPUSD1, SNRNP25, SOX8, SSTR5, SSTR5-AS1, STUB1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRG-CCC2-2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
9.
GRCh37:
Chr16:96766-11619372
GRCh38:
Chr16:46766-11525516
RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, LOC130058229, LOC130058230, LOC130058231, LOC130058232, LOC130058233, LOC130058234, LOC130058235, LOC130058236, LOC130058237, LOC130058238, LOC130058239, LOC130058240, LOC130058241, LOC130058242, LOC130058243, LOC130058244, LOC130058245, LOC130058246, LOC130058247, LOC130058248, LOC130058249, LOC130058250, LOC130058251, LOC130058252, LOC130058253, LOC130058254, LOC130058255, LOC130058256, LOC130058257, LOC130058258, LOC130058259, LOC130058260, LOC130058261, LOC130058262, LOC130058263, LOC130058264, LOC130058265, LOC130058266, LOC130058267, LOC130058268, LOC130058269, LOC130058270, LOC130058271, LOC130058272, LOC130058273, LOC130058274, LOC130058275, LOC130058276, LOC130058277, LOC130058278, LOC130058279, LOC130058280, LOC130058281, LOC130058282, LOC130058283, LOC130058284, LOC130058285, LOC130058286, LOC130058287, LOC130058288, LOC130058289, LOC130058290, LOC130058291, LOC130058292, LOC130058293, LOC130058294, LOC130058295, LOC130058296, LOC130058297, LOC130058298, LOC130058299, LOC130058300, LOC130058301, LOC130058302, LOC130058303, LOC130058304, LOC130058305, LOC130058306, LOC130058307, LOC130058308, LOC130058309, LOC130058310, LOC130058311, LOC130058312, LOC130058313, LOC130058314, LOC130058315, LOC130058316, LOC130058317, LOC130058318, LOC130058319, LOC130058320, LOC130058321, LOC130058322, LOC130058323, LOC130058324, LOC130058325, LOC130058326, LOC130058327, LOC130058328, LOC130058329, LOC130058330, LOC130058331, LOC130058332, LOC130058333, LOC130058334, LOC130058335, LOC130058336, LOC130058337, LOC130058338, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, LOC130058379, LOC130058380, LOC130058381, LOC130058382, LOC130058383, LOC130058384, LOC130058385, LOC130058386, LOC130058387, LOC130058388, LOC130058389, LOC130058390, LOC130058391, LOC130058392, LOC130058393, LOC130058394, LOC130058395, LOC130058396, LOC130058397, LOC130058398, LOC130058399, LOC130058400, LOC130058401, LOC130058402, LOC130058403, LOC130058404, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426, LOC130058427, LOC130058428, LOC130058429, LOC130058430, LOC130058431, LOC130058432, LOC130058433, LOC130058434, LOC130058435, LOC130058436, LOC130058437, LOC130058438, LOC130058439, LOC130058440, LOC130058441, LOC130058442, LOC130058443, LOC130058444, LOC130058445, LOC130058446, LOC130058447, LOC130058448, LOC130058449, LOC130058450, LOC130058451, LOC130058452, LOC130058453, LOC130058454, LOC130058455, LOC130058456, LOC130058457, LOC130058458, LOC130058459, LOC130058460, LOC130058461, LOC130058462, LOC130058463, LOC130058464, LOC130058465, LOC130058466, LOC130058467, LOC130058468, LOC130058469, LOC130058470, LOC130058471, LOC130058472, LOC130058473, LOC130058474, LOC130058475, LOC130058476, LOC130058477, LOC130058478, LOC130058479, LOC130058480, LOC130058481, LOC130058482, LOC130058483, LOC130058484, LOC130058485, LOC130058486, LOC130058487, LOC130058488, LOC130058489, LOC130058490, LOC130058491, LOC130058492, LOC130058493, LOC130058494, LOC130058495, LOC130058496, LOC130058497, LOC130058498, LOC130058499, LOC132090370, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132090399, LOC132090437, LOC132205950, LOC132211111, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CARHSP1-DT, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ECI1-AS1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HAPSTR1, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927026, LOC101927131, LOC101929440, LOC101929566, LOC105371038, LOC105371046, LOC105371050, LOC105371062, LOC105371079, LOC105371083, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC129390753, LOC129390754, LOC129390755, LOC129390756, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763
See casesPathogenic
(Feb 28, 2010)
no assertion criteria provided
10.
GRCh37:
Chr16:96766-2047583
GRCh38:
Chr16:46766-1997582
AXIN1, BAIAP3, C1QTNF8, CACNA1H, CAPN15, CCDC154, CCDC78, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, EME2, FAHD1, FAM234A, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC101929440, LOC105371038, LOC105371046, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112441449, LOC115253417, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121847967, LOC125146371, LOC125146372, LOC126862260, LOC129390753, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC132090370, LOC132090437, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR3176, MIR3177, MIR5587, MIR662, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHLRC4, NME3, NME4, NOXO1, NPRL3, NUBP2, PDIA2, PERCC1, PGAP6, PIGQ, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RPL3L, RPS2, RPUSD1, SNHG9, SNORA10, SNORA64, SNORA78, SNRNP25, SOX8, SPSB3, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRG-CCC2-2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ANTKMT, ARHGDIG
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr16:96766-3264623
GRCh38:
Chr16:46766-3214623
ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CRAMP1, DECR2, DNASE1L2, E4F1, ECI1, ECI1-AS1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929440, LOC101929566, LOC105371038, LOC105371046, LOC105371050, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121847967, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC129390753, LOC129390754, LOC130058084, LOC130058085, LOC130058086, LOC130058087, LOC130058088, LOC130058089, LOC130058090, LOC130058091, LOC130058092, LOC130058093, LOC130058094, LOC130058095, LOC130058096, LOC130058097, LOC130058098, LOC130058099, LOC130058100, LOC130058101, LOC130058102, LOC130058103, LOC130058104, LOC130058105, LOC130058106, LOC130058107, LOC130058108, LOC130058109, LOC130058110, LOC130058111, LOC130058112, LOC130058113, LOC130058114, LOC130058115, LOC130058116, LOC130058117, LOC130058118, LOC130058119, LOC130058120, LOC130058121, LOC130058122, LOC130058123, LOC130058124, LOC130058125, LOC130058126, LOC130058127, LOC130058128, LOC130058129, LOC130058130, LOC130058131, LOC130058132, LOC130058133, LOC130058134, LOC130058135, LOC130058136, LOC130058137, LOC130058138, LOC130058139, LOC130058140, LOC130058141, LOC130058142, LOC130058143, LOC130058144, LOC130058145, LOC130058146, LOC130058147, LOC130058148, LOC130058149, LOC130058150, LOC130058151, LOC130058152, LOC130058153, LOC130058154, LOC130058155, LOC130058156, LOC130058157, LOC130058158, LOC130058159, LOC130058160, LOC130058161, LOC130058162, LOC130058163, LOC130058164, LOC130058165, LOC130058166, LOC130058167, LOC130058168, LOC130058169, LOC130058170, LOC130058171, LOC130058172, LOC130058173, LOC130058174, LOC130058175, LOC130058176, LOC130058177, LOC130058178, LOC130058179, LOC130058180, LOC130058181, LOC130058182, LOC130058183, LOC130058184, LOC130058185, LOC130058186, LOC130058187, LOC130058188, LOC130058189, LOC130058190, LOC130058191, LOC130058192, LOC130058193, LOC130058194, LOC130058195, LOC130058196, LOC130058197, LOC130058198, LOC130058199, LOC130058200, LOC130058201, LOC130058202, LOC130058203, LOC130058204, LOC130058205, LOC130058206, LOC130058207, LOC130058208, LOC130058209, LOC130058210, LOC130058211, LOC130058212, LOC130058213, LOC130058214, LOC130058215, LOC130058216, LOC130058217, LOC130058218, LOC130058219, LOC130058220, LOC130058221, LOC130058222, LOC130058223, LOC130058224, LOC130058225, LOC130058226, LOC130058227, LOC130058228, LOC130058229, LOC130058230, LOC130058231, LOC130058232, LOC130058233, LOC130058234, LOC130058235, LOC130058236, LOC130058237, LOC130058238, LOC130058239, LOC130058240, LOC130058241, LOC130058242, LOC130058243, LOC130058244, LOC130058245, LOC130058246, LOC130058247, LOC130058248, LOC130058249, LOC130058250, LOC130058251, LOC130058252, LOC130058253, LOC130058254, LOC130058255, LOC130058256, LOC130058257, LOC130058258, LOC130058259, LOC130058260, LOC130058261, LOC130058262, LOC130058263, LOC130058264, LOC130058265, LOC130058266, LOC130058267, LOC130058268, LOC130058269, LOC130058270, LOC130058271, LOC130058272, LOC130058273, LOC130058274, LOC130058275, LOC130058276, LOC130058277, LOC130058278, LOC130058279, LOC130058280, LOC130058281, LOC130058282, LOC130058283, LOC130058284, LOC130058285, LOC130058286, LOC130058287, LOC130058288, LOC130058289, LOC130058290, LOC130058291, LOC130058292, LOC130058293, LOC130058294, LOC130058295, LOC130058296, LOC130058297, LOC130058298, LOC130058299, LOC130058300, LOC130058301, LOC130058302, LOC130058303, LOC130058304, LOC130058305, LOC130058306, LOC130058307, LOC130058308, LOC130058309, LOC130058310, LOC130058311, LOC130058312, LOC130058313, LOC130058314, LOC130058315, LOC130058316, LOC130058317, LOC130058318, LOC130058319, LOC130058320, LOC130058321, LOC130058322, LOC130058323, LOC130058324, LOC130058325, LOC130058326, LOC132090370, LOC132090437, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF598, ZSCAN10, ABCA3, AMDHD2, ANTKMT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh37:
Chr16:716662-15836961
GRCh38:
Chr16:666662-15743104
LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, LOC130058363, LOC130058364, LOC130058365, LOC130058366, LOC130058367, LOC130058368, LOC130058369, LOC130058370, LOC130058371, LOC130058372, LOC130058373, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, LOC130058379, LOC130058380, LOC130058381, LOC130058382, LOC130058383, LOC130058384, LOC130058385, LOC130058386, LOC130058387, LOC130058388, LOC130058389, LOC130058390, LOC130058391, LOC130058392, LOC130058393, LOC130058394, LOC130058395, LOC130058396, LOC130058397, LOC130058398, LOC130058399, LOC130058400, LOC130058401, LOC130058402, LOC130058403, LOC130058404, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426, LOC130058427, LOC130058428, LOC130058429, LOC130058430, LOC130058431, LOC130058432, LOC130058433, LOC130058434, LOC130058435, LOC130058436, LOC130058437, LOC130058438, LOC130058439, LOC130058440, LOC130058441, LOC130058442, LOC130058443, LOC130058444, LOC130058445, LOC130058446, LOC130058447, LOC130058448, LOC130058449, LOC130058450, LOC130058451, LOC130058452, LOC130058453, LOC130058454, LOC130058455, LOC130058456, LOC130058457, LOC130058458, LOC130058459, LOC130058460, LOC130058461, LOC130058462, LOC130058463, LOC130058464, LOC130058465, LOC130058466, LOC130058467, LOC130058468, LOC130058469, LOC130058470, LOC130058471, LOC130058472, LOC130058473, LOC130058474, LOC130058475, LOC130058476, LOC130058477, LOC130058478, LOC130058479, LOC130058480, LOC130058481, LOC130058482, LOC130058483, LOC130058484, LOC130058485, LOC130058486, LOC130058487, LOC130058488, LOC130058489, LOC130058490, LOC130058491, LOC130058492, LOC130058493, LOC130058494, LOC130058495, LOC130058496, LOC130058497, LOC130058498, LOC130058499, LOC130058500, LOC130058501, LOC130058502, LOC130058503, LOC130058504, LOC130058505, LOC130058506, LOC130058507, LOC130058508, LOC130058509, LOC130058510, LOC130058511, LOC130058512, LOC130058513, LOC130058514, LOC130058515, LOC130058516, LOC130058517, LOC130058518, LOC130058519, LOC130058520, LOC130058521, LOC130058522, LOC130058523, LOC130058524, LOC130058525, LOC130058526, LOC130058527, LOC130058528, LOC130058529, LOC130058530, LOC130058531, LOC130058532, LOC130058533, LOC130058534, LOC130058535, LOC130058536, LOC130058537, LOC130058538, LOC130058539, LOC130058540, LOC130058541, LOC130058542, LOC130058543, LOC130058544, LOC130058545, LOC130058546, LOC130058547, LOC130058548, LOC130058549, LOC130058550, LOC130058551, LOC130058552, LOC130058553, LOC130058554, LOC130058555, LOC130058556, LOC130058557, LOC130058558, LOC130058559, LOC132090370, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132090399, LOC132090437, LOC132205950, LOC132211111, LOC400499, MAPK8IP3, MAPK8IP3-AS1, MARF1, MEFV, MEIOB, METRN, METTL22, MGRN1, MIR1225, MIR193B, MIR193BHG, MIR1972-1, MIR3177, MIR3178, MIR3179-1, MIR3180-1, MIR3180-4, MIR3180-5, MIR365A, MIR3670-1, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR484, MIR548H2, MIR6126, MIR6506, MIR6511A1, MIR6511B1, MIR6511B2, MIR662, MIR6767, MIR6768, MIR6769A, MIR6770-1, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPV17L, MPV17L-BMERB1, MRPS34, MRTFB, MSLN, MSRB1, MTRNR2L4, MYH11, NAA60, NAGPA, NAGPA-AS1, NDE1, NDUFB10, NHERF2, NLRC3, NME3, NMRAL1, NOMO1, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB2, NPW, OR1F1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR2C1, PAM16, PAQR4, PARN, PDPK1, PDXDC1, PERCC1, PGP, PKD1, PKD1-AS1, PKMYT1, PLA2G10, PMM2, PPL, PRM1, PRM2, PRM3, PRR25, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB26, RBFOX1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RRN3, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TRT-CGT2-1, TSC2, TSR3, TVP23A, TXNDC11, TXNDC11-AS1, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ATF7IP2, ATP6V0C, BAIAP3, BCAR4, BFAR, BICDL2, BMERB1, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CARHSP1, CARHSP1-DT, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ECI1-AS1, EEF2KMT, ELOB, EME2, EMP2, ERCC4, ERVK13-1, FAHD1, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HAPSTR1, HCFC1R1, HMOX2, HS3ST6,