| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - 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 cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - 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 cases | Pathogenic (Feb 28, 2010) | no assertion criteria provided |
| - 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 cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3111268-3716095
- GRCh38:
- Chr16:3061267-3666094
| C16orf90, CLUAP1, DNASE1, IL32, LINC00921, LOC121847968, LOC125146379, LOC125146380, LOC126862264, LOC126862265, 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, LOC132090374, LOC132090375, LOC132090376, LOC132090377, LOC132090378, LOC132211111, MEFV, MIR6126, MTRNR2L4, NAA60, NLRC3, OR1F1, OR2C1, SLX4, TIGD7, 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, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Uncertain significance (Jun 20, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:3353551-4015375
- GRCh38:
- Chr16:3303551-3965374
| ADCY9, C16orf90, CLUAP1, CREBBP, DNASE1, LINC02861, LOC121847968, LOC125146381, LOC125146382, LOC126862265, 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, MIR6126, MTRNR2L4, NAA60, NLRC3, OR2C1, SLX4, TIGD7, TRAP1, ZNF174, ZNF597, ZNF75A, ZSCAN32 | | See cases | Likely pathogenic (Sep 4, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:3543167-4043346
- GRCh38:
- Chr16:3493167-3993345
| ADCY9, C16orf90, CLUAP1, CREBBP, DNASE1, LINC02861, LOC125146381, LOC125146382, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, NLRC3, SLX4, TRAP1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr16:3499966-3774794
| TRAP1, CLUAP1, CREBBP, DNASE1, LOC130058339, LOC130058340, LOC130058341, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, NLRC3, SLX4 | | Anomalous pulmonary venous return | Uncertain significance | criteria provided, single submitter |
| - GRCh37:
- Chr16:3565534-3799386
- GRCh38:
- Chr16:3515534-3749385
| CLUAP1, CREBBP, DNASE1, LOC130058342, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, NLRC3, SLX4, TRAP1 | | See cases | Uncertain significance (Apr 4, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:3610565-4316797
- GRCh38:
- Chr16:3560564-4266796
| ADCY9, CREBBP, DNASE1, LINC01569, LINC02861, LOC105371062, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC130058343, LOC130058344, LOC130058345, LOC130058346, LOC130058347, LOC130058348, LOC130058349, LOC130058350, LOC130058351, LOC130058352, LOC130058353, LOC130058354, LOC130058355, LOC130058356, LOC130058357, LOC130058358, LOC130058359, LOC130058360, LOC130058361, LOC130058362, NLRC3, SLX4, SRL, TFAP4, TRAP1 | | See cases | Pathogenic (Nov 11, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr16:3631193
- GRCh38:
- Chr16:3581192
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631248
- GRCh38:
- Chr16:3581247
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631296
- GRCh38:
- Chr16:3581295
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631302
- GRCh38:
- Chr16:3581301
| SLX4 | | Fanconi anemia complementation group P | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631308
- GRCh38:
- Chr16:3581307
| SLX4 | | Fanconi anemia complementation group P | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631321
- GRCh38:
- Chr16:3581320
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631339
- GRCh38:
- Chr16:3581338
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631359
- GRCh38:
- Chr16:3581358
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631386
- GRCh38:
- Chr16:3581385
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631399
- GRCh38:
- Chr16:3581398
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631456
- GRCh38:
- Chr16:3581455
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631461
- GRCh38:
- Chr16:3581460
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631472
- GRCh38:
- Chr16:3581471
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631532
- GRCh38:
- Chr16:3581531
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631536
- GRCh38:
- Chr16:3581535
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631622
- GRCh38:
- Chr16:3581621
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631685
- GRCh38:
- Chr16:3581684
| SLX4 | | Fanconi anemia complementation group P | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631688
- GRCh38:
- Chr16:3581687
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631691
- GRCh38:
- Chr16:3581690
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631765
- GRCh38:
- Chr16:3581764
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631788
- GRCh38:
- Chr16:3581787
| SLX4 | | Fanconi anemia complementation group P | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631850
- GRCh38:
- Chr16:3581849
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631874
- GRCh38:
- Chr16:3581873
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3631969
- GRCh38:
- Chr16:3581968
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632032
- GRCh38:
- Chr16:3582031
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632042-3632045
- GRCh38:
- Chr16:3582041-3582044
| SLX4 | | Fanconi anemia | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632175
- GRCh38:
- Chr16:3582174
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632215
- GRCh38:
- Chr16:3582214
| SLX4 | | Fanconi anemia complementation group P | Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632230
- GRCh38:
- Chr16:3582229
| SLX4 | | Fanconi anemia complementation group P, not provided | Benign (Feb 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632241
- GRCh38:
- Chr16:3582240
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632245
- GRCh38:
- Chr16:3582244
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632261
- GRCh38:
- Chr16:3582260
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632270
- GRCh38:
- Chr16:3582269
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632289
- GRCh38:
- Chr16:3582288
| SLX4 | | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632335
- GRCh38:
- Chr16:3582334
| SLX4 | | not specified, not provided, Fanconi anemia complementation group P
| Benign (Feb 24, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632337-3658971
- GRCh38:
- Chr16:3582336-3608970
| LOC130058346, SLX4 | | Fanconi anemia | Uncertain significance (Sep 18, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632342
- GRCh38:
- Chr16:3582341
| SLX4 | | not specified | Uncertain significance (Nov 12, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632347
- GRCh38:
- Chr16:3582346
| SLX4 | N1834S | not specified, not provided, Fanconi anemia complementation group P, Fanconi anemia | Conflicting interpretations of pathogenicity (Oct 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3632350
- GRCh38:
- Chr16:3582349
| SLX4 | R1833Q | Fanconi anemia | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632351
- GRCh38:
- Chr16:3582350
| SLX4 | R1833W | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632358-3632360
- GRCh38:
- Chr16:3582357-3582359
| SLX4 | K1830del | Fanconi anemia | Uncertain significance (Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632365
- GRCh38:
- Chr16:3582364
| SLX4 | K1828R | Inborn genetic diseases | Likely benign (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632368
- GRCh38:
- Chr16:3582367
| SLX4 | G1827V | Fanconi anemia | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632368
- GRCh38:
- Chr16:3582367
| SLX4 | G1827fs | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632371
- GRCh38:
- Chr16:3582370
| SLX4 | R1826Q | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632372
- GRCh38:
- Chr16:3582371
| SLX4 | R1826W | Fanconi anemia complementation group P, not specified, Fanconi anemia
| Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632378
- GRCh38:
- Chr16:3582377
| SLX4 | Q1824* | Fanconi anemia complementation group P | Uncertain significance (Feb 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632380
- GRCh38:
- Chr16:3582379
| SLX4 | R1823Q | Fanconi anemia | Uncertain significance (Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632381
- GRCh38:
- Chr16:3582380
| SLX4 | | Fanconi anemia | Likely benign (Dec 21, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632381
- GRCh38:
- Chr16:3582380
| SLX4 | R1823W | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632391
- GRCh38:
- Chr16:3582390
| SLX4 | | Fanconi anemia | Likely benign (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632403
- GRCh38:
- Chr16:3582402
| SLX4 | | Fanconi anemia | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632404
- GRCh38:
- Chr16:3582403
| SLX4 | R1815T | Fanconi anemia | Uncertain significance (Dec 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632407
- GRCh38:
- Chr16:3582406
| SLX4 | R1814H | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Oct 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632408
- GRCh38:
- Chr16:3582407
| SLX4 | R1814G | Fanconi anemia | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632408
- GRCh38:
- Chr16:3582407
| SLX4 | R1814C | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Dec 2, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632412
- GRCh38:
- Chr16:3582411
| SLX4 | | Fanconi anemia | Likely benign (Nov 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632415
- GRCh38:
- Chr16:3582414
| SLX4 | | Fanconi anemia, Fanconi anemia complementation group P | Likely benign (Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632421
- GRCh38:
- Chr16:3582420
| SLX4 | | Fanconi anemia | Likely benign (Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632425
- GRCh38:
- Chr16:3582424
| SLX4 | F1808C | not specified, Fanconi anemia | Uncertain significance (Jul 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632430
- GRCh38:
- Chr16:3582429
| SLX4 | I1806M | Fanconi anemia complementation group P | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632435
- GRCh38:
- Chr16:3582434
| SLX4 | C1805R | Fanconi anemia, Fanconi anemia complementation group P | Uncertain significance (Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632438
- GRCh38:
- Chr16:3582437
| SLX4 | H1804Y | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Apr 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632440
- GRCh38:
- Chr16:3582439
| SLX4 | T1803I | Inborn genetic diseases | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632444
- GRCh38:
- Chr16:3582443
| SLX4 | D1802N | SLX4-related condition, Fanconi anemia, Fanconi anemia complementation group P, not provided | Uncertain significance (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632445
- GRCh38:
- Chr16:3582444
| SLX4 | | Fanconi anemia, not specified, Fanconi anemia complementation group P
| Likely benign (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632462
- GRCh38:
- Chr16:3582461
| SLX4 | R1796G | Fanconi anemia | Uncertain significance (Aug 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632464
- GRCh38:
- Chr16:3582463
| SLX4 | R1795H | not provided, Fanconi anemia complementation group P, Fanconi anemia
| Uncertain significance (Jan 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632465
- GRCh38:
- Chr16:3582464
| SLX4 | R1795C | Fanconi anemia complementation group P, Fanconi anemia | Uncertain significance (Sep 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632466
- GRCh38:
- Chr16:3582465
| SLX4 | | Fanconi anemia complementation group P, Fanconi anemia | Likely benign (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632476
- GRCh38:
- Chr16:3582475
| SLX4 | R1791H | Fanconi anemia, Fanconi anemia complementation group P | Conflicting interpretations of pathogenicity (Aug 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3632477
- GRCh38:
- Chr16:3582476
| SLX4 | R1791C | Fanconi anemia, Fanconi anemia complementation group P | Uncertain significance (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632480
- GRCh38:
- Chr16:3582479
| SLX4 | L1790I | Fanconi anemia, Fanconi anemia complementation group P | Uncertain significance (May 19, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632483
- GRCh38:
- Chr16:3582482
| SLX4 | G1789S | Fanconi anemia, Fanconi anemia complementation group P | Uncertain significance (Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632489
- GRCh38:
- Chr16:3582488
| SLX4 | Q1787E | Fanconi anemia | Uncertain significance (Aug 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632494
- GRCh38:
- Chr16:3582493
| SLX4 | L1785P | Fanconi anemia | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632496
- GRCh38:
- Chr16:3582495
| SLX4 | | Fanconi anemia | Likely benign (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632498-3632506
- GRCh38:
- Chr16:3582497-3582505
| SLX4 | | Fanconi anemia | Uncertain significance (Sep 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632512
- GRCh38:
- Chr16:3582511
| SLX4 | R1779Q | Fanconi anemia, Fanconi anemia complementation group P | Uncertain significance (Aug 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3632520
- GRCh38:
- Chr16:3582519
| SLX4 | F1776L | Fanconi anemia | Uncertain significance (Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632521
- GRCh38:
- Chr16:3582520
| SLX4 | F1776C | Fanconi anemia | Uncertain significance (Sep 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632523
- GRCh38:
- Chr16:3582522
| SLX4 | | Fanconi anemia complementation group P, Fanconi anemia | Conflicting interpretations of pathogenicity (Dec 14, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3632525-3632526
- GRCh38:
- Chr16:3582524-3582525
| SLX4 | | Fanconi anemia | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632530
- GRCh38:
- Chr16:3582529
| SLX4 | Y1773C | Fanconi anemia | Uncertain significance (Feb 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632532
- GRCh38:
- Chr16:3582531
| SLX4 | | Fanconi anemia | Likely benign (May 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632536
- GRCh38:
- Chr16:3582535
| SLX4 | L1771P | Fanconi anemia | Uncertain significance (Aug 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3632539
- GRCh38:
- Chr16:3582538
| SLX4 | V1770E | Fanconi anemia | Uncertain significance (Feb 28, 2022) | criteria provided, single submitter |