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Items: 1 to 100 of 2995

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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
2.
GRCh37:
Chr16:4694893-29182141
GRCh38:
Chr16:4644892-29170820
ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ATF7IP2, ATP2A1, ATP2A1-AS1, ATXN2L, BCAR4, BFAR, BMERB1, C16orf82, C16orf89, CACNG3, CARHSP1, CARHSP1-DT, CCP110, CD19, CDR2, CDR2-DT, CEP20, CHP2, CIITA, CLEC16A, CLEC19A, CLN3, COG7, COQ7, COQ7-DT, CPPED1, CRYM, CRYM-AS1, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, GDE1, GGA2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HS3ST2, HS3ST4, IGSF6, IL21R, IL21R-AS1, IL27, IL4R, IQCK, ITPRIPL2, KATNIP, KDM8, KNOP1, LAT, LCMT1, LCMT1-AS1, LCMT1-AS2, LDAF1, LINC01177, LINC01195, LINC01290, LINC01567, LINC01570, LINC02129, LINC02130, LINC02152, LINC02164, LINC02175, LINC02177, LINC02185, LINC02186, LINC02191, LINC02194, LINC02195, LINC02890, LITAF, LITAFD, LOC100128079, LOC100130283, LOC100190986, LOC100288162, LOC100505915, LOC101927026, LOC101927131, LOC101927227, LOC101927814, LOC102723536, LOC102723692, LOC105371079, LOC105371083, LOC105371114, LOC105371115, LOC105371129, LOC106799840, LOC107522031, LOC110121335, LOC111365165, LOC111365198, LOC111464986, LOC111562378, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC112340389, LOC112340390, LOC112340391, LOC112340392, LOC112340393, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939949, LOC113939951, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC116276449, LOC116276450, LOC116276451, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121587532, LOC121587533, LOC121587534, LOC121587535, LOC121587536, LOC121587537, LOC121587538, LOC121587539, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC121847974, LOC121847975, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC125146420, LOC125146421, LOC125146423, LOC125146424, LOC125146427, LOC125146428, LOC125146429, LOC125146430, LOC125146431, LOC125146432, LOC125146433, LOC125146434, LOC125146435, LOC125146436, LOC125146437, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC126862306, LOC126862307, LOC126862308, LOC126862309, LOC126862310, LOC126862311, LOC126862312, LOC126862313, LOC126862314, LOC126862315, LOC126862316, LOC126862317, LOC126862318, LOC126862319, LOC126862320, LOC126862321, LOC126862322, LOC126862323, LOC126862324, LOC126862325, LOC126862326, LOC126862327, LOC129390757, LOC129390758, LOC129390759, LOC129390760, LOC129390761, LOC129390762, LOC129390763, LOC129390764, LOC129390765, LOC129390766, LOC129390767, LOC129390768, LOC129390769, LOC129390770, LOC129390771, LOC129390772, LOC129390773, LOC129390774, LOC129390775, LOC129390776, LOC129390777, LOC129390778, LOC129390779, LOC129390780, LOC129390781, LOC129390782, LOC130058374, LOC130058375, LOC130058376, LOC130058377, LOC130058378, LOC130058379, LOC130058380, LOC130058381, LOC130058382, LOC130058383, LOC130058384, LOC130058385, LOC130058386, LOC130058387, LOC130058388, LOC130058389, LOC130058390, LOC130058391, LOC130058392, LOC130058393, LOC130058394, LOC130058395, LOC130058396, LOC130058397, LOC130058398, LOC130058399, LOC130058400, LOC130058401, LOC130058402, LOC130058403, LOC130058404, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC130058420, LOC130058421, LOC130058422, LOC130058423, LOC130058424, LOC130058425, LOC130058426, LOC130058427, LOC130058428, LOC130058429, LOC130058430, LOC130058431, LOC130058432, LOC130058433, LOC130058434, LOC130058435, LOC130058436, LOC130058437, LOC130058438, LOC130058439, LOC130058440, LOC130058441, LOC130058442, LOC130058443, LOC130058444, LOC130058445, LOC130058446, LOC130058447, LOC130058448, LOC130058449, LOC130058450, LOC130058451, LOC130058452, LOC130058453, LOC130058454, LOC130058455, LOC130058456, LOC130058457, LOC130058458, LOC130058459, LOC130058460, LOC130058461, LOC130058462, LOC130058463, LOC130058464, LOC130058465, LOC130058466, LOC130058467, LOC130058468, LOC130058469, LOC130058470, LOC130058471, LOC130058472, LOC130058473, LOC130058474, LOC130058475, LOC130058476, LOC130058477, LOC130058478, LOC130058479, LOC130058480, LOC130058481, LOC130058482, LOC130058483, LOC130058484, LOC130058485, LOC130058486, LOC130058487, LOC130058488, LOC130058489, LOC130058490, LOC130058491, LOC130058492, LOC130058493, LOC130058494, LOC130058495, LOC130058496, LOC130058497, LOC130058498, LOC130058499, LOC130058500, LOC130058501, LOC130058502, LOC130058503, LOC130058504, LOC130058505, LOC130058506, LOC130058507, LOC130058508, LOC130058509, LOC130058510, LOC130058511, LOC130058512, LOC130058513, LOC130058514, LOC130058515, LOC130058516, LOC130058517, LOC130058518, LOC130058519, LOC130058520, LOC130058521, LOC130058522, LOC130058523, LOC130058524, LOC130058525, LOC130058526, LOC130058527, LOC130058528, LOC130058529, LOC130058530, LOC130058531, LOC130058532, LOC130058533, LOC130058534, LOC130058535, LOC130058536, LOC130058537, LOC130058538, LOC130058539, LOC130058540, LOC130058541, LOC130058542, LOC130058543, LOC130058544, LOC130058545, LOC130058546, LOC130058547, LOC130058548, LOC130058549, LOC130058550, LOC130058551, LOC130058552, LOC130058553, LOC130058554, LOC130058555, LOC130058556, LOC130058557, LOC130058558, LOC130058559, LOC130058560, LOC130058561, LOC130058562, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, LOC130058576, LOC130058577, LOC130058578, LOC130058579, LOC130058580, LOC130058581, LOC130058582, LOC130058583, LOC130058584, LOC130058585, LOC130058586, LOC130058587, LOC130058588, LOC130058589, LOC130058590, LOC130058591, LOC130058592, LOC130058593, LOC130058594, LOC130058595, LOC130058596, LOC130058597, LOC130058598, LOC130058599, LOC130058600, LOC130058601, LOC130058602, LOC130058603, LOC130058604, LOC130058605, LOC130058606, LOC130058607, LOC130058608, LOC130058609, LOC130058610, LOC130058611, LOC130058612, LOC130058613, LOC130058614, LOC130058615, LOC130058616, LOC130058617, LOC130058618, LOC130058619, LOC130058620, LOC130058621, LOC130058622, LOC130058623, LOC130058624, LOC130058625, LOC130058626, LOC130058627, LOC130058628, LOC130058629, LOC130058630, LOC130058631, LOC130058632, LOC130058633, LOC130058634, LOC130058635, LOC130058636, LOC130058637, LOC130058638, LOC130058639, LOC130058640, LOC130058641, LOC130058642, LOC130058643, LOC130058644, LOC130058645, LOC130058646, LOC130058647, LOC130058648, LOC130058649, LOC130058650, LOC130058651, LOC130058652, LOC130058653, LOC130058654, LOC130058655, LOC130058656, LOC130058657, LOC130058658, LOC130058659, LOC130058660, LOC130058661, LOC130058662, LOC130058663, LOC130058664, LOC130058665, LOC130058666, LOC130058667, LOC130058668, LOC130058669, LOC130058670, LOC130058671, LOC130058672, LOC130058673, LOC130058674, LOC130058675, LOC130058676, LOC130058677, LOC130058678, LOC130058679, LOC130058680, LOC130058681, LOC130058682, LOC130058683, LOC130058684, LOC130058685, LOC130058686, LOC130058687, LOC130058688, LOC130058689, LOC130058690, LOC130058691, LOC130058692, LOC130058693, LOC130058694, LOC130058695, LOC130058696, LOC130058697, LOC130058698, LOC130058699, LOC130058700, LOC130058701, LOC130058702, LOC130058703, LOC130058704, LOC130058705, LOC130058706, LOC130058707, LOC130058708, LOC130058709, LOC130058710, LOC130058711, LOC130058712, LOC130058713, LOC130058714, LOC130058715, LOC130058716, LOC130058717, LOC130058718, LOC130058719, LOC130058720, LOC130058721, LOC130058722, LOC130058723, LOC130058724, LOC130058725, LOC130058726, LOC130058727, LOC130058728, LOC130058729, LOC130058730, LOC130058731, LOC130058732, LOC130058733, LOC130058734, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, LOC130058753, LOC130058754, LOC131696449, LOC132090371, LOC132090372, LOC132090373, LOC132090399, LOC132205950, LOC400499, LYRM1, MARF1, METTL22, METTL9, MGRN1, MIR1273H, MIR193B, MIR193BHG, MIR1972-1, MIR3179-1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-1, MIR3180-2, MIR3180-3, MIR3180-4, MIR365A, MIR3670-1, MIR3670-2, MIR3670-3, MIR3670-4, MIR3680-1, MIR4517, MIR4718, MIR4721, MIR484, MIR548H2, MIR548W, MIR6506, MIR6511A1, MIR6511A2, MIR6511A3, MIR6511A4, MIR6511B2, MIR6769A, MIR6770-1, MIR6770-2, MIR6770-3, MIR6862-1, MIR6862-2, MIR8065, MOSMO, MPV17L, MPV17L-BMERB1, MRTFB, MYH11, NAGPA, NAGPA-AS1, NDE1, NDUFAB1, NFATC2IP, NFATC2IP-AS1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPA6, NPIPA7, NPIPA8, NPIPA9, NPIPB2, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPIPB7, NPIPB8, NPIPB9, NSMCE1, NSMCE1-DT, NTAN1, NUBP1, NUDT16L1, NUPR1, OTOA, PALB2, PARN, PDILT, PDXDC1, PDZD9, PLA2G10, PLK1, PMM2, POLR3E, PPL, PRKCB, PRM1, PRM2, PRM3, RABEP2, RBBP6, RBFOX1, REXO5, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, RSL1D1-DT, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SGF29, SH2B1, SHISA9, SLC5A11, SMG1, SMIM22, SNN, SNX29, SOCS1, SPNS1, SULT1A1, SULT1A2, SYT17, TEKT5, THUMPD1, TMC5, TMC7, TMEM114, TMEM186, TNFRSF17, TNP2, TNRC6A, TRL-AAG2-4, TRL-TAG3-1, TRT-CGT2-1, TUFM, TVP23A, TXNDC11, TXNDC11-AS1, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, USP7-AS1, VPS35L, VWA3A, XPO6, XYLT1, ZC3H7A, ZKSCAN2, ZKSCAN2-DT, ZNF500, ZP2
See casesPathogenic
(Dec 30, 2009)
no assertion criteria provided
3.
GRCh37:
Chr16:14703504-18777139
GRCh38:
Chr16:14609647-18765817
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr16:14732953-16525348
GRCh38:
Chr16:14639096-16431491
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr16:14762239-16194578
GRCh38:
Chr16:14668382-16100721
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh38:
Chr16:14683149-16205174
not specifiedUncertain significancecriteria provided, single submitter
7.
GRCh38:
Chr16:14683149-16536956
16p13.11 recurrent microdeletion syndromeLikely pathogenic
(Oct 6, 2021)
criteria provided, single submitter
8.
GRCh37:
Chr16:14780135-16525348
GRCh38:
Chr16:14686278-16431491
See casesUncertain significance
(Jan 25, 2013)
no assertion criteria provided
9.
GRCh37:
Chr16:14809982-16477578
GRCh38:
Chr16:14716125-16383721
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
10.
GRCh37:
Chr16:14811051-16602397
GRCh38:
Chr16:14717194-16508540
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
11.
GRCh37:
Chr16:14811051-16544699
GRCh38:
Chr16:14717194-16450842
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
12.
GRCh38:
Chr16:14757009-16763184
AutismPathogenic
(Mar 20, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr16:14866283-16533890
GRCh38:
Chr16:14772426-16440033
See casesUncertain significance
(May 7, 2013)
no assertion criteria provided
14.
GRCh37:
Chr16:14866284-16391910
GRCh38:
Chr16:14772427-16298053
See casesPathogenic
(Jun 4, 2013)
no assertion criteria provided
15.
GRCh38:
Chr16:14780667-16415941
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr16:14877687-16525348
GRCh38:
Chr16:14783830-16431491
See casesUncertain significance
(Aug 22, 2014)
no assertion criteria provided
17.
GRCh37:
Chr16:14877687-18548248
GRCh38:
Chr16:14783830-18536926
See casesUncertain significance
(Dec 10, 2012)
no assertion criteria provided
18.
GRCh37:
Chr16:14877687-16525348
GRCh38:
Chr16:14783830-16431491
See casesUncertain significance
(Apr 5, 2012)
no assertion criteria provided
19.
GRCh37:
Chr16:14877687-16544758
GRCh38:
Chr16:14783830-16450901
See casesUncertain significance
(Feb 4, 2013)
no assertion criteria provided
20.
GRCh37:
Chr16:14877687-16292235
GRCh38:
Chr16:14783830-16198378
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
21.
GRCh37:
Chr16:14877687-18779801
GRCh38:
Chr16:14783830-18768479
See casesUncertain significance
(Jun 1, 2012)
no assertion criteria provided
22.
GRCh37:
Chr16:14877687-16327945
GRCh38:
Chr16:14783830-16234088
See casesPathogenic
(Jan 16, 2012)
no assertion criteria provided
23.
GRCh37:
Chr16:14877687-16362707
GRCh38:
Chr16:14783830-16268850
See casesUncertain significance
(Sep 20, 2011)
no assertion criteria provided
24.
GRCh37:
Chr16:14877687-16847762
GRCh38:
Chr16:14783830-16753905
See casesUncertain significance
(Apr 4, 2013)
no assertion criteria provided
25.
GRCh37:
Chr16:14877687-18692057
GRCh38:
Chr16:14783830-18680735
See casesUncertain significance
(Oct 10, 2011)
no assertion criteria provided
26.
GRCh37:
Chr16:14877687-16561151
GRCh38:
Chr16:14783830-16467294
See casesUncertain significance
(Oct 10, 2011)
no assertion criteria provided
27.
GRCh37:
Chr16:14877687-16835162
GRCh38:
Chr16:14783830-16741305
See casesUncertain significance
(Nov 14, 2012)
no assertion criteria provided
28.
GRCh37:
Chr16:14888581-16498084
GRCh38:
Chr16:14794724-16404227
See casesUncertain significance
(Sep 23, 2013)
no assertion criteria provided
29.
GRCh37:
Chr16:14892880-16533890
GRCh38:
Chr16:14799023-16440033
See casesUncertain significance
(Sep 12, 2014)
no assertion criteria provided
30.
GRCh37:
Chr16:14893032-16544419
GRCh38:
Chr16:14799175-16450562
See casesUncertain significance
(Jun 23, 2014)
no assertion criteria provided
31.
GRCh37:
Chr16:14893729-16533890
GRCh38:
Chr16:14799872-16440033
See casesUncertain significance
(Mar 4, 2013)
no assertion criteria provided
32.
GRCh37:
Chr16:14896385-16330672
GRCh38:
Chr16:14802528-16236815
See casesPathogenic
(May 7, 2013)
no assertion criteria provided
33.
GRCh37:
Chr16:14897625-16494783
GRCh38:
Chr16:14803768-16400926
See casesPathogenic
(Mar 18, 2014)
no assertion criteria provided
34.
GRCh37:
Chr16:14897788-16508039
GRCh38:
Chr16:14803931-16414182
See casesPathogenic
(Apr 4, 2013)
no assertion criteria provided
35.
GRCh37:
Chr16:14897788-16293305
GRCh38:
Chr16:14803931-16199448
See casesUncertain significance
(Mar 10, 2014)
no assertion criteria provided
36.
GRCh37:
Chr16:14899676-16514111
GRCh38:
Chr16:14805819-16420254
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
37.
GRCh37:
Chr16:14900131-16533890
GRCh38:
Chr16:14806274-16440033
See casesUncertain significance
(Aug 22, 2014)
no assertion criteria provided
38.
GRCh37:
Chr16:14900168-16533242
GRCh38:
Chr16:14806311-16439385
See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
39.
GRCh37:
Chr16:14900182-16544018
GRCh38:
Chr16:14806325-16450161
See casesUncertain significance
(Sep 23, 2013)
no assertion criteria provided
40.
GRCh37:
Chr16:14910116-16525348
GRCh38:
Chr16:14816259-16431491
See casesPathogenic
(Jan 3, 2012)
no assertion criteria provided
41.
GRCh38:
Chr16:14816348-16678513
Anomalous pulmonary venous returnUncertain significancecriteria provided, single submitter
42.
GRCh37:
Chr16:14910205-16525348
GRCh38:
Chr16:14816348-16431491
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr16:14910205-16194578
GRCh38:
Chr16:14816348-16100721
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
44.
GRCh37:
Chr16:14910205-16525348
GRCh38:
Chr16:14816348-16431491
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
45.
GRCh37:
Chr16:14910205-16772370
GRCh38:
Chr16:14816348-16678513
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
46.
GRCh37:
Chr16:14910205-16674321
GRCh38:
Chr16:14816348-16580464
See casesConflicting interpretations of pathogenicity
(Mar 9, 2012)
no assertion criteria provided
47.
GRCh37:
Chr16:14910205-16242757
GRCh38:
Chr16:14816348-16148900
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr16:14910205-18669725
GRCh38:
Chr16:14816348-18658403
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
49.
GRCh37:
Chr16:14910205-18141051
GRCh38:
Chr16:14816348-18047194
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
50.
GRCh37:
Chr16:14910205-16194578
GRCh38:
Chr16:14816348-16100721
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
51.
GRCh37:
Chr16:14910205-16525348
GRCh38:
Chr16:14816348-16431491
See casesUncertain significance
(Jul 5, 2011)
no assertion criteria provided
52.
GRCh37:
Chr16:14910205-16194578
GRCh38:
Chr16:14816348-16100721
See casesPathogenic
(Feb 14, 2018)
no assertion criteria provided
53.
GRCh37:
Chr16:14910205-16727421
GRCh38:
Chr16:14816348-16633564
See casesUncertain significance
(Dec 22, 2010)
no assertion criteria provided
54.
GRCh37:
Chr16:14910213-16525374
GRCh38:
Chr16:14816356-16431517
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
55.
GRCh37:
Chr16:14910213-16742194
GRCh38:
Chr16:14816356-16648337
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
56.
GRCh37:
Chr16:14917806-18149685
GRCh38:
Chr16:14823949-18055828
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
57.
GRCh37:
Chr16:14917806-16375091
GRCh38:
Chr16:14823949-16281234
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
58.
GRCh37:
Chr16:14926043-16835162
GRCh38:
Chr16:14832186-16741305
See casesUncertain significance
(Jun 4, 2012)
no assertion criteria provided
59.
GRCh37:
Chr16:14944560-16305736
GRCh38:
Chr16:14850703-16211879
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
60.
GRCh37:
Chr16:14968855-16127877
GRCh38:
Chr16:14874998-16034020
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
61.
GRCh37:
Chr16:14968855-16127877
GRCh38:
Chr16:14874998-16034020
See casesPathogenic
(Aug 18, 2010)
no assertion criteria provided
62.
GRCh37:
Chr16:14968855-16194578
GRCh38:
Chr16:14874998-16100721
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
63.