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Items: 1 to 100 of 1836

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
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
3.
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
4.
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, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02130, LINC02152, LINC02164, LINC02177, LINC02185, LINC02186, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100288162, LOC100505915, LOC101927026, LOC101927131, LOC101927227, LOC101929440, LOC101929566, LOC105371046, LOC105371050, LOC105371062, LOC105371079, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111464986, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340386, LOC112340387, LOC112340388, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, 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, LOC125146416, LOC125146417, LOC125146418, LOC125146419, 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, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, LOC129390753, LOC129390754, LOC129390755, LOC129390756, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC129390768, LOC129390769, LOC129390770, 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
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
5.
GRCh37:
Chr16:4694893-29182141
GRCh38:
Chr16:4644892-29170820
ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ATF7IP2, ATP2A1, ATP2A1-AS1, ATXN2L, BCAR4, BFAR, BMERB1, C16orf82, C16orf89, CACNG3, CARHSP1, CARHSP1-DT, CCP110, CD19, CDR2, CDR2-DT, CEP20, CHP2, CIITA, CLEC16A, CLEC19A, CLN3, COG7, COQ7, COQ7-DT, CPPED1, CRYM, CRYM-AS1, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, GDE1, GGA2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, IQCK, ITPRIPL2, KATNIP, KDM8, KNOP1, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LDAF1, LINC01177, LINC01195, LINC01290, LINC01567, LINC01570, LINC02129, LINC02130, LINC02152, LINC02164, LINC02175, LINC02177, LINC02185, LINC02186, LINC02191, LINC02194, LINC02195, LINC02890, LITAF, LITAFD, LOC100128079, LOC100130283, LOC100190986, LOC100288162, LOC100505915, LOC101927026, LOC101927131, LOC101927227, LOC101927814, LOC102723536, LOC102723692, LOC105371079, LOC105371083, LOC105371114, LOC105371115, LOC105371129, LOC106799840, LOC107522031, LOC110121335, LOC111365165, LOC111365198, LOC111464986, LOC111562378, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC112340389, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939949, LOC113939951, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC116276449, LOC116276450, LOC116276451, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121587532, LOC121587533, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC121847974, LOC121847975, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC125146423, LOC125146424, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, 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, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC126862306, LOC126862307, LOC126862308, LOC126862309, LOC126862310, LOC126862311, LOC126862312, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC129390768, LOC129390769, LOC129390770, LOC129390771, LOC129390772, LOC129390773, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, 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, LOC130058560, LOC130058561, LOC130058562, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, LOC130058576, LOC130058577, LOC130058578, LOC130058579, LOC130058580, LOC130058581, LOC130058582, LOC130058583, LOC130058584, LOC130058585, LOC130058586, LOC130058587, LOC130058588, LOC130058589, LOC130058590, LOC130058591, LOC130058592, LOC130058593, LOC130058594, LOC130058595, LOC130058596, LOC130058597, LOC130058598, LOC130058599, LOC130058600, LOC130058601, LOC130058602, LOC130058603, LOC130058604, LOC130058605, LOC130058606, LOC130058607, LOC130058608, LOC130058609, LOC130058610, LOC130058611, LOC130058612, LOC130058613, LOC130058614, LOC130058615, LOC130058616, LOC130058617, LOC130058618, LOC130058619, LOC130058620, LOC130058621, LOC130058622, LOC130058623, LOC130058624, LOC130058625, LOC130058626, LOC130058627, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC130058647, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC131696449, LOC132090371, LOC132090372, LOC132090373, LOC132090399, LOC132205950, LOC400499, LYRM1, MARF1, METTL22, METTL9, MGRN1, MIR1273H, MIR193B, MIR193BHG, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR365A, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR3680-1, MIR4517, MIR4718, MIR4721, MIR484, MIR548H2, MIR548W, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6769A, MIR6770-1, MIR6770-2, MIR6770-3, MIR6862-1, MIR6862-2, MIR8065, MOSMO, MPV17L, MPV17L-BMERB1, MRTFB, MYH11, NAGPA, NAGPA-AS1, NDE1, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA6, NPIPA7, NPIPA8, NPIPA9, NPIPB2, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NTAN1, NUBP1, NUDT16L1, NUPR1, OTOA, PALB2, PARN, PDILT, PDXDC1, PDZD9, PLA2G10, PLK1, PMM2, POLR3E, PPL, PRKCB, PRM1, PRM2, PRM3, RABEP2, RBBP6, RBFOX1, REXO5, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, RSL1D1-DT, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SGF29, SH2B1, SHISA9, SLC5A11, SMG1, SMIM22, SNN, SNX29, SOCS1, SPNS1, SULT1A1, SULT1A2, SYT17, TEKT5, THUMPD1, TMC5, TMC7, TMEM114, TMEM186, TNFRSF17, TNP2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TRT-CGT2-1, TUFM, TVP23A, TXNDC11, TXNDC11-AS1, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, USP7-AS1, VPS35L, VWA3A, XPO6, XYLT1, ZC3H7A, ZKSCAN2, ZKSCAN2-DT, ZNF500, ZP2
See casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
6.
GRCh37:
Chr16:8291224-9864047
GRCh38:
Chr16:8241222-9770190
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr16:9088487-9887602
GRCh38:
Chr16:8994630-9793745
See casesLikely pathogenic
(Jun 1, 2012)
no assertion criteria provided
8.
GRCh38:
Chr16:9703465-9888417
GRIN2A, LOC130058418Landau-Kleffner syndromeLikely pathogenic
(Aug 20, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr16:9847314
GRCh38:
Chr16:9753457
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr16:9847374
GRCh38:
Chr16:9753517
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr16:9847489
GRCh38:
Chr16:9753632
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr16:9847525
GRCh38:
Chr16:9753668
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr16:9847614
GRCh38:
Chr16:9753757
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 15, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr16:9847681
GRCh38:
Chr16:9753824
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr16:9847728
GRCh38:
Chr16:9753871
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr16:9847751
GRCh38:
Chr16:9753894
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr16:9847799
GRCh38:
Chr16:9753942
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr16:9848028
GRCh38:
Chr16:9754171
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr16:9848225
GRCh38:
Chr16:9754368
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr16:9848253
GRCh38:
Chr16:9754396
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr16:9848292
GRCh38:
Chr16:9754435
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr16:9848380
GRCh38:
Chr16:9754523
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr16:9848397
GRCh38:
Chr16:9754540
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr16:9848464
GRCh38:
Chr16:9754607
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
25.
GRCh37:
Chr16:9848469-9848470
GRCh38:
Chr16:9754612-9754613
GRIN2ALandau-Kleffner syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
26.
GRCh37:
Chr16:9848471
GRCh38:
Chr16:9754614
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr16:9848608
GRCh38:
Chr16:9754751
GRIN2ALandau-Kleffner syndrome, not providedConflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr16:9848610
GRCh38:
Chr16:9754753
GRIN2ALandau-Kleffner syndrome, not providedBenign
(Apr 1, 2023)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr16:9848644
GRCh38:
Chr16:9754787
GRIN2Anot providedLikely benign
(Jun 1, 2023)
criteria provided, single submitter
30.
GRCh37:
Chr16:9848647
GRCh38:
Chr16:9754790
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr16:9848850
GRCh38:
Chr16:9754993
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr16:9848929
GRCh38:
Chr16:9755072
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr16:9848955
GRCh38:
Chr16:9755098
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr16:9849024
GRCh38:
Chr16:9755167
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr16:9849100
GRCh38:
Chr16:9755243
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr16:9849108
GRCh38:
Chr16:9755251
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr16:9849109
GRCh38:
Chr16:9755252
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr16:9849231
GRCh38:
Chr16:9755374
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr16:9849352-9849356
GRCh38:
Chr16:9755495-9755499
GRIN2ALandau-Kleffner syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr16:9849523
GRCh38:
Chr16:9755666
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr16:9849581
GRCh38:
Chr16:9755724
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr16:9849627
GRCh38:
Chr16:9755770
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr16:9849657
GRCh38:
Chr16:9755800
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr16:9849680
GRCh38:
Chr16:9755823
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr16:9849682
GRCh38:
Chr16:9755825
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr16:9849682
GRCh38:
Chr16:9755825
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr16:9849713
GRCh38:
Chr16:9755856
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
48.
GRCh37:
Chr16:9849717
GRCh38:
Chr16:9755860
GRIN2ALandau-Kleffner syndrome, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr16:9849728
GRCh38:
Chr16:9755871
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr16:9849799
GRCh38:
Chr16:9755942
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
51.
GRCh37:
Chr16:9849894
GRCh38:
Chr16:9756037
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr16:9849894
GRCh38:
Chr16:9756037
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr16:9849917
GRCh38:
Chr16:9756060
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr16:9849981-9849982
GRCh38:
Chr16:9756124-9756125
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
55.
GRCh37:
Chr16:9850020
GRCh38:
Chr16:9756163
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr16:9850065
GRCh38:
Chr16:9756208
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr16:9850074
GRCh38:
Chr16:9756217
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr16:9850100
GRCh38:
Chr16:9756243
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr16:9850109
GRCh38:
Chr16:9756252
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
60.
GRCh37:
Chr16:9850141
GRCh38:
Chr16:9756284
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr16:9850160
GRCh38:
Chr16:9756303
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr16:9850232
GRCh38:
Chr16:9756375
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
63.
GRCh37:
Chr16:9850246
GRCh38:
Chr16:9756389
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
64.
GRCh37:
Chr16:9850256
GRCh38:
Chr16:9756399
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr16:9850321
GRCh38:
Chr16:9756464
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
66.
GRCh37:
Chr16:9850345
GRCh38:
Chr16:9756488
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr16:9850347
GRCh38:
Chr16:9756490
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr16:9850397
GRCh38:
Chr16:9756540
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr16:9850405
GRCh38:
Chr16:9756548
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr16:9850407
GRCh38:
Chr16:9756550
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
71.
GRCh37:
Chr16:9850409
GRCh38:
Chr16:9756552
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr16:9850410
GRCh38:
Chr16:9756553
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr16:9850461
GRCh38:
Chr16:9756604
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
74.
GRCh37:
Chr16:9850478
GRCh38:
Chr16:9756621
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr16:9850531
GRCh38:
Chr16:9756674
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr16:9850534
GRCh38:
Chr16:9756677
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
77.
GRCh37:
Chr16:9850554
GRCh38:
Chr16:9756697
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
78.
GRCh37:
Chr16:9850555
GRCh38:
Chr16:9756698
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr16:9850557
GRCh38:
Chr16:9756700
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr16:9850562
GRCh38:
Chr16:9756705
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr16:9850622
GRCh38:
Chr16:9756765
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
82.
GRCh37:
Chr16:9850683
GRCh38:
Chr16:9756826
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr16:9850724
GRCh38:
Chr16:9756867
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr16:9850826
GRCh38:
Chr16:9756969
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr16:9850828
GRCh38:
Chr16:9756971
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr16:9850857
GRCh38:
Chr16:9757000
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
87.
GRCh37:
Chr16:9850878
GRCh38:
Chr16:9757021
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr16:9850921
GRCh38:
Chr16:9757064
GRIN2ALandau-Kleffner syndromeUncertain significance
(Sep 5, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr16:9850922
GRCh38:
Chr16:9757065
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr16:9850964
GRCh38:
Chr16:9757107
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
91.
GRCh37:
Chr16:9850993
GRCh38:
Chr16:9757136
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
92.
GRCh37:
Chr16:9851010
GRCh38:
Chr16:9757153
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr16:9851064
GRCh38:
Chr16:9757207
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
94.
GRCh37:
Chr16:9851122
GRCh38:
Chr16:9757265
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
95.
GRCh37:
Chr16:9851188
GRCh38:
Chr16:9757331
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr16:9851216
GRCh38:
Chr16:9757359
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
97.
GRCh37:
Chr16:9851230-9851231
GRCh38:
Chr16:9757373-9757374
GRIN2ALandau-Kleffner syndromeUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
98.
GRCh37:
Chr16:9851230
GRCh38:
Chr16:9757373
GRIN2ALandau-Kleffner syndromeBenign
(Jan 12, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr16:9851231
GRCh38:
Chr16:9757374
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
100.
GRCh37:
Chr16:9851266
GRCh38:
Chr16:9757409
GRIN2ALandau-Kleffner syndromeBenign
(Jan 13, 2018)
criteria provided, single submitter
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