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Items: 1 to 100 of 1968

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:
Chr16:96766-4297186
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
4.
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
5.
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
6.
GRCh37:
Chr16:2767953-4091021
GRCh38:
Chr16:2717952-4041020
ADCY9, BICDL2, C16orf90, CLDN6, CLDN9, CLUAP1, CREBBP, DNASE1, ELOB, FLYWCH1, FLYWCH2, GREP1, HCFC1R1, IL32, KREMEN2, LINC00921, LINC02861, LOC100128770, LOC101929566, LOC113939950, LOC121530612, LOC121847968, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, 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, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132211111, MEFV, MIR6126, MMP25, MMP25-AS1, MTRNR2L4, NAA60, NLRC3, OR1F1, OR2C1, PAQR4, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SLX4, SNORA3C, SRRM2, SRRM2-AS1, THOC6, TIGD7, TNFRSF12A, 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, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr16:2900735-7160698
GRCh38:
Chr16:2850734-7110697
ADCY9, ALG1, ANKS3, BICDL2, C16orf89, C16orf90, C16orf96, CDIP1, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, FLYWCH1, FLYWCH2, GLIS2, GLIS2-AS1, GLYR1, GREP1, HCFC1R1, HMOX2, IL32, KREMEN2, LINC00921, LINC01569, LINC01570, LINC02164, LINC02861, LOC100128770, LOC101929566, LOC105371062, LOC107522031, LOC112441450, LOC113939950, LOC113939951, LOC121530612, LOC121530613, LOC121847968, LOC121847969, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC129390755, LOC129390756, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, 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, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132211111, MEFV, MGRN1, MIR6126, MIR6769A, MIR8065, MMP25, MMP25-AS1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NLRC3, NMRAL1, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PKMYT1, PPL, PRSS22, RBFOX1, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, THOC6, TIGD7, TNFRSF12A, 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, UBALD1, UBN1, VASN, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr16:3111268-3716095
GRCh38:
Chr16:3061267-3666094
See casesUncertain significance
(Jun 20, 2011)
no assertion criteria provided
9.
GRCh37:
Chr16:3353551-4015375
GRCh38:
Chr16:3303551-3965374
See casesLikely pathogenic
(Sep 4, 2012)
no assertion criteria provided
10.
GRCh37:
Chr16:3543167-4043346
GRCh38:
Chr16:3493167-3993345
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh38:
Chr16:3499966-3774794
Anomalous pulmonary venous returnUncertain significancecriteria provided, single submitter
12.
GRCh37:
Chr16:3565534-3799386
GRCh38:
Chr16:3515534-3749385
See casesUncertain significance
(Apr 4, 2013)
no assertion criteria provided
13.
GRCh37:
Chr16:3610565-4316797
GRCh38:
Chr16:3560564-4266796
See casesPathogenic
(Nov 11, 2011)
no assertion criteria provided
14.
GRCh37:
Chr16:3631193
GRCh38:
Chr16:3581192
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr16:3631248
GRCh38:
Chr16:3581247
SLX4Fanconi anemia complementation group PBenign
(Jan 12, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr16:3631296
GRCh38:
Chr16:3581295
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr16:3631302
GRCh38:
Chr16:3581301
SLX4Fanconi anemia complementation group PLikely benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr16:3631308
GRCh38:
Chr16:3581307
SLX4Fanconi anemia complementation group PLikely benign
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr16:3631321
GRCh38:
Chr16:3581320
SLX4Fanconi anemia complementation group PBenign
(Jan 12, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr16:3631339
GRCh38:
Chr16:3581338
SLX4Fanconi anemia complementation group PBenign
(Jan 12, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr16:3631359
GRCh38:
Chr16:3581358
SLX4Fanconi anemia complementation group PBenign
(Jan 12, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr16:3631386
GRCh38:
Chr16:3581385
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr16:3631399
GRCh38:
Chr16:3581398
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr16:3631456
GRCh38:
Chr16:3581455
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr16:3631461
GRCh38:
Chr16:3581460
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr16:3631472
GRCh38:
Chr16:3581471
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr16:3631532
GRCh38:
Chr16:3581531
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr16:3631536
GRCh38:
Chr16:3581535
SLX4Fanconi anemia complementation group PBenign
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr16:3631622
GRCh38:
Chr16:3581621
SLX4Fanconi anemia complementation group PBenign
(Jan 13, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr16:3631685
GRCh38:
Chr16:3581684
SLX4Fanconi anemia complementation group PLikely benign
(Jan 13, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr16:3631688
GRCh38:
Chr16:3581687
SLX4Fanconi anemia complementation group PBenign
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr16:3631691
GRCh38:
Chr16:3581690
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr16:3631765
GRCh38:
Chr16:3581764
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr16:3631788
GRCh38:
Chr16:3581787
SLX4Fanconi anemia complementation group PBenign
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr16:3631850
GRCh38:
Chr16:3581849
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr16:3631874
GRCh38:
Chr16:3581873
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr16:3631969
GRCh38:
Chr16:3581968
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr16:3632032
GRCh38:
Chr16:3582031
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr16:3632042-3632045
GRCh38:
Chr16:3582041-3582044
SLX4Fanconi anemiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
40.
GRCh37:
Chr16:3632175
GRCh38:
Chr16:3582174
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr16:3632215
GRCh38:
Chr16:3582214
SLX4Fanconi anemia complementation group PLikely benign
(Jan 13, 2018)
criteria provided, single submitter
42.
GRCh37:
Chr16:3632230
GRCh38:
Chr16:3582229
SLX4Fanconi anemia complementation group P, not providedBenign
(Feb 24, 2019)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:3632241
GRCh38:
Chr16:3582240
SLX4Fanconi anemia complementation group PUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr16:3632245
GRCh38:
Chr16:3582244
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
45.
GRCh37:
Chr16:3632261
GRCh38:
Chr16:3582260
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr16:3632270
GRCh38:
Chr16:3582269
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr16:3632289
GRCh38:
Chr16:3582288
SLX4Fanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr16:3632335
GRCh38:
Chr16:3582334
SLX4not specified, not provided, Fanconi anemia complementation group P
Benign
(Feb 24, 2019)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr16:3632337-3658971
GRCh38:
Chr16:3582336-3608970
LOC130058346, SLX4Fanconi anemiaUncertain significance
(Sep 18, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr16:3632342
GRCh38:
Chr16:3582341
SLX4not specifiedUncertain significance
(Nov 12, 2019)
criteria provided, single submitter
51.
GRCh37:
Chr16:3632347
GRCh38:
Chr16:3582346
SLX4N1834Snot specified, not provided, Fanconi anemia complementation group P,
Fanconi anemia
Conflicting interpretations of pathogenicity
(Oct 1, 2023)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr16:3632350
GRCh38:
Chr16:3582349
SLX4R1833QFanconi anemiaUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr16:3632351
GRCh38:
Chr16:3582350
SLX4R1833WFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr16:3632358-3632360
GRCh38:
Chr16:3582357-3582359
SLX4K1830delFanconi anemiaUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr16:3632365
GRCh38:
Chr16:3582364
SLX4K1828RInborn genetic diseasesLikely benign
(Aug 11, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr16:3632368
GRCh38:
Chr16:3582367
SLX4G1827VFanconi anemiaUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr16:3632368
GRCh38:
Chr16:3582367
SLX4G1827fsFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(May 19, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr16:3632371
GRCh38:
Chr16:3582370
SLX4R1826QFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr16:3632372
GRCh38:
Chr16:3582371
SLX4R1826WFanconi anemia complementation group P, not specified, Fanconi anemia
Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr16:3632378
GRCh38:
Chr16:3582377
SLX4Q1824*Fanconi anemia complementation group PUncertain significance
(Feb 14, 2018)
criteria provided, single submitter
61.
GRCh37:
Chr16:3632380
GRCh38:
Chr16:3582379
SLX4R1823QFanconi anemiaUncertain significance
(Apr 30, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr16:3632381
GRCh38:
Chr16:3582380
SLX4Fanconi anemiaLikely benign
(Dec 21, 2016)
criteria provided, single submitter
63.
GRCh37:
Chr16:3632381
GRCh38:
Chr16:3582380
SLX4R1823WFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Jan 7, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr16:3632391
GRCh38:
Chr16:3582390
SLX4Fanconi anemiaLikely benign
(Apr 25, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr16:3632403
GRCh38:
Chr16:3582402
SLX4Fanconi anemiaLikely benign
(Jul 5, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr16:3632404
GRCh38:
Chr16:3582403
SLX4R1815TFanconi anemiaUncertain significance
(Dec 5, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr16:3632407
GRCh38:
Chr16:3582406
SLX4R1814HFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr16:3632408
GRCh38:
Chr16:3582407
SLX4R1814GFanconi anemiaUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr16:3632408
GRCh38:
Chr16:3582407
SLX4R1814CFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Dec 2, 2021)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr16:3632412
GRCh38:
Chr16:3582411
SLX4Fanconi anemiaLikely benign
(Nov 17, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr16:3632415
GRCh38:
Chr16:3582414
SLX4Fanconi anemia, Fanconi anemia complementation group PLikely benign
(Aug 20, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr16:3632421
GRCh38:
Chr16:3582420
SLX4Fanconi anemiaLikely benign
(Oct 5, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr16:3632425
GRCh38:
Chr16:3582424
SLX4F1808Cnot specified, Fanconi anemiaUncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr16:3632430
GRCh38:
Chr16:3582429
SLX4I1806MFanconi anemia complementation group PUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
75.
GRCh37:
Chr16:3632435
GRCh38:
Chr16:3582434
SLX4C1805RFanconi anemia, Fanconi anemia complementation group PUncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr16:3632438
GRCh38:
Chr16:3582437
SLX4H1804YFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Apr 14, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr16:3632440
GRCh38:
Chr16:3582439
SLX4T1803IInborn genetic diseasesUncertain significance
(Jun 29, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr16:3632444
GRCh38:
Chr16:3582443
SLX4D1802NSLX4-related condition, Fanconi anemia, Fanconi anemia complementation group P,
not provided
Uncertain significance
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr16:3632445
GRCh38:
Chr16:3582444
SLX4Fanconi anemia, not specified, Fanconi anemia complementation group P
Likely benign
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr16:3632462
GRCh38:
Chr16:3582461
SLX4R1796GFanconi anemiaUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr16:3632464
GRCh38:
Chr16:3582463
SLX4R1795Hnot provided, Fanconi anemia complementation group P, Fanconi anemia
Uncertain significance
(Jan 27, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr16:3632465
GRCh38:
Chr16:3582464
SLX4R1795CFanconi anemia complementation group P, Fanconi anemiaUncertain significance
(Sep 15, 2022)
criteria provided, multiple submitters, no conflicts
83.
GRCh37:
Chr16:3632466
GRCh38:
Chr16:3582465
SLX4Fanconi anemia complementation group P, Fanconi anemiaLikely benign
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr16:3632476
GRCh38:
Chr16:3582475
SLX4R1791HFanconi anemia, Fanconi anemia complementation group PConflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
85.
GRCh37:
Chr16:3632477
GRCh38:
Chr16:3582476
SLX4R1791CFanconi anemia, Fanconi anemia complementation group PUncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr16:3632480
GRCh38:
Chr16:3582479
SLX4L1790IFanconi anemia, Fanconi anemia complementation group PUncertain significance
(May 19, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr16:3632483
GRCh38:
Chr16:3582482
SLX4G1789SFanconi anemia, Fanconi anemia complementation group PUncertain significance
(Aug 31, 2021)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr16:3632489
GRCh38:
Chr16:3582488
SLX4Q1787EFanconi anemiaUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr16:3632494
GRCh38:
Chr16:3582493
SLX4L1785PFanconi anemiaUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr16:3632496
GRCh38:
Chr16:3582495
SLX4Fanconi anemiaLikely benign
(Aug 23, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr16:3632498-3632506
GRCh38:
Chr16:3582497-3582505
SLX4Fanconi anemiaUncertain significance
(Sep 30, 2021)
criteria provided, single submitter
92.
GRCh37:
Chr16:3632512
GRCh38:
Chr16:3582511
SLX4R1779QFanconi anemia, Fanconi anemia complementation group PUncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
93.
GRCh37:
Chr16:3632520
GRCh38:
Chr16:3582519
SLX4F1776LFanconi anemiaUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr16:3632521
GRCh38:
Chr16:3582520
SLX4F1776CFanconi anemiaUncertain significance
(Sep 6, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr16:3632523
GRCh38:
Chr16:3582522
SLX4Fanconi anemia complementation group P, Fanconi anemiaConflicting interpretations of pathogenicity
(Dec 14, 2021)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr16:3632525-3632526
GRCh38:
Chr16:3582524-3582525
SLX4Fanconi anemiaUncertain significance
(Sep 24, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr16:3632530
GRCh38:
Chr16:3582529
SLX4Y1773CFanconi anemiaUncertain significance
(Feb 22, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr16:3632532
GRCh38:
Chr16:3582531
SLX4Fanconi anemiaLikely benign
(May 9, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr16:3632536
GRCh38:
Chr16:3582535
SLX4L1771PFanconi anemiaUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr16:3632539
GRCh38:
Chr16:3582538
SLX4V1770EFanconi anemiaUncertain significance
(Feb 28, 2022)
criteria provided, single submitter
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