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Items: 1 to 100 of 918

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr4:1-49062177
LOC110120787, LOC110121237, LOC126806950, LOC126807052, LOC129992039, LOC129992040, LOC129992152, LOC129992153, LOC129992229, LOC129992230, LOC129992338, LOC129992443, LOC129992549, MIR4798, MIR4800, MIR4801, MIR4802, MIR8053, MIR943, MIR95, MRFAP1, MIR5091, MIR548I2, MIR5591, MIR571, LOC129992558, MIR572, MIR573, MIR574, MIR7978, LOC129992550, LOC129992551, LOC129992446, LOC129992447, LOC129992448, LOC129992449, LOC129992450, LOC129992451, LOC129992452, LOC129992554, LOC129992552, LOC129992553, LOC129992555, LOC129992556, LOC129992339, LOC129992340, LOC129992341, LOC129992342, LOC129992343, LOC129992242, LOC129992233, LOC129992234, LOC129992344, LOC129992345, LOC129992346, LOC129992557, LOC129992444, LOC129992445, LOC129992231, LOC129992232, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992168, LOC129992169, LOC129992160, LOC129992161, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992048, LOC129992049, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992050, LOC129992051, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC128125818, LOC128854699, LOC129389205, LOC129389206, LOC129389207, LOC129389208, LOC129389209, LOC126806954, LOC126806952, LOC126806953, LOC129389210, LOC129929027, LOC128854700, LOC128854701, LOC128854702, LOC129389202, LOC129389203, LOC129389204, LOC129992166, LOC129992167, LOC110121305, LOC110121309, LOC111365176, LOC111465010, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939931, LOC112939932, LOC112939933, LOC129992041, LOC129992042, LOC126806951, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LINC02472, LINC02473, LINC02475, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LOC100129931, LOC100130872, LOC100505912, LOC101927157, LOC101927179, LOC101928279, LOC101928306, LOC101928532, LOC101928622, LOC101928721, LOC101929161, LOC105374338, LOC105374344, LOC105374409, LOC105374426, LOC105374428, LOC105374438, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110011216, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC112939934, LOC112939935, LOC112939936, LOC112942284, LOC112942285, LOC112942286, LOC112942287, LOC112978663, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC116158486, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, LOC121048745, LOC121053178, LOC121725168, LOC121725169, LOC121725170, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC123477729, LOC123477730, LOC123477731, LOC123477732, LOC123477733, LOC123477734, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC126806994, LOC126806995, LOC126806996, LOC126806997, LOC126806998, LOC126806999, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807004, LOC126807005, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126807010, LOC126807011, LOC126807012, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807023, LOC126807024, LOC126807025, LOC126807026, LOC126807027, LOC126807028, LOC126807029, LOC126807030, LOC126807031, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC126807036, LOC126807037, LOC126807038, LOC126807040, LOC126807041, LOC126807042, LOC126807043, LOC126807044, LOC126807045, LOC126807046, LOC126807047, LOC126807048, LOC126807049, LOC126807050, LOC126807051, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LOC129992200, LOC129992201, LOC129992202, LOC129992203, LOC129992204, LOC129992205, LOC129992206, LOC129992207, LOC129992208, LOC129992209, LOC129992210, LOC129992211, LOC129992212, LOC129992213, LOC129992214, LOC129992215, LOC129992216, LOC129992217, LOC129992218, LOC129992219, LOC129992220, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC129992304, LOC129992305, LOC129992306, LOC129992307, LOC129992308, LOC129992309, LOC129992310, LOC129992311, LOC129992312, LOC129992313, LOC129992314, LOC129992315, LOC129992316, LOC129992317, LOC129992318, LOC129992319, LOC129992320, LOC129992321, LOC129992322, LOC129992323, LOC129992324, LOC129992325, LOC129992326, LOC129992327, LOC129992328, LOC129992329, LOC129992330, LOC129992331, LOC129992332, LOC129992333, LOC129992334, LOC129992335, LOC129992336, LOC129992337, LOC129992347, LOC129992348, LOC129992349, LOC129992350, LOC129992351, LOC129992352, LOC129992353, LOC129992354, LOC129992355, LOC129992356, LOC129992357, LOC129992358, LOC129992359, LOC129992360, LOC129992361, LOC129992362, LOC129992363, LOC129992364, LOC129992365, LOC129992366, LOC129992367, LOC129992368, LOC129992369, LOC129992370, LOC129992371, LOC129992372, LOC129992373, LOC129992374, LOC129992375, LOC129992376, LOC129992377, LOC129992378, LOC129992379, LOC129992380, LOC129992381, LOC129992382, LOC129992383, LOC129992384, LOC129992385, LOC129992386, LOC129992387, LOC129992388, LOC129992389, LOC129992390, LOC129992391, LOC129992392, LOC129992393, LOC129992394, LOC129992395, LOC129992396, LOC129992397, LOC129992398, LOC129992399, LOC129992400, LOC129992401, LOC129992402, LOC129992403, LOC129992404, LOC129992405, LOC129992406, LOC129992407, LOC129992408, LOC129992409, LOC129992410, LOC129992411, LOC129992412, LOC129992413, LOC129992414, LOC129992415, LOC129992416, LOC129992417, LOC129992418, LOC129992419, LOC129992420, LOC129992421, LOC129992422, LOC129992423, LOC129992424, LOC129992425, LOC129992426, LOC129992427, LOC129992428, LOC129992429, LOC129992430, LOC129992431, LOC129992432, LOC129992433, LOC129992434, LOC129992435, LOC129992436, LOC129992437, LOC129992438, LOC129992439, LOC129992440, LOC129992441, LOC129992442, LOC129992453, LOC129992454, LOC129992455, LOC129992456, LOC129992457, LOC129992458, LOC129992459, LOC129992460, LOC129992461, LOC129992462, LOC129992463, LOC129992464, LOC129992465, LOC129992466, LOC129992467, LOC129992468, LOC129992469, LOC129992470, LOC129992471, LOC129992472, LOC129992473, LOC129992474, LOC129992475, LOC129992476, LOC129992477, LOC129992478, LOC129992479, LOC129992480, LOC129992481, LOC129992482, LOC129992483, LOC129992484, LOC129992485, LOC129992486, LOC129992487, LOC129992488, LOC129992489, LOC129992490, LOC129992491, LOC129992492, LOC129992493, LOC129992494, LOC129992495, LOC129992496, LOC129992497, LOC129992498, LOC129992499, LOC129992500, LOC129992501, LOC129992502, LOC129992503, LOC129992504, LOC129992505, LOC129992506, LOC129992507, LOC129992508, LOC129992509, LOC129992510, LOC129992511, LOC129992512, LOC129992513, LOC129992514, LOC129992515, LOC129992516, LOC129992517, LOC129992518, LOC129992519, LOC129992520, LOC129992521, LOC129992522, LOC129992523, LOC129992524, LOC129992525, LOC129992526, LOC129992527, LOC129992528, LOC129992529, LOC129992530, LOC129992531, LOC129992532, LOC129992533, LOC129992534, LOC129992535, LOC129992536, LOC129992537, LOC129992538, LOC129992539, LOC129992540, LOC129992541, LOC129992542, LOC129992543, LOC129992544, LOC129992545, LOC129992546, LOC129992547, LOC129992548, LOC129992559, LOC129992560, LOC129992561, LOC129992562, LOC129992563, LOC129992564, LOC129992565, LOC129992566, LOC129992567, LOC129992568, LOC129992569, LOC129992570, LOC129992571, LOC129992572, LOC129992573, LOC129992574, LOC129992575, LOC129992576, LOC129992577, LOC129992578, LOC132089075, LOC132089111, LOC132089112, LOC132089113, LOC132089114, LOC132089115, LOC132089116, LOC132089117, LOC132089118, LOC132089119, LOC132089120, LOC132089121, LOC132089122, LOC132089123, LOC132089124, LOC132089125, LOC132089126, LOC132089127, LOC132089128, LOC132089129, LOC132089130, LOC132089131, LOC132089132, LOC132089133, LOC132089134, LOC132089135, LOC132089136, LOC132089137, LOC132089138, LOC132089139, LOC132089140, LOC132089141, LOC132089142, LOC132089143, LOC132089144, LOC132089145, LOC132089146, LOC132089147, LOC132089148, LOC132089149, LOC132089150, LOC132089151, LOC132089152, LOC132089153, LOC132089154, LOC132089155, LOC132089156, LOC132089157, LOC132089158, LOC132090704, LOC132090705, LOC132090706, LOC132090707, LOC132205958, LOC389199, LOC439933, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MED28-DT, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OCIAD1, OCIAD1-AS1, OCIAD2, OTOP1, PACRGL, PCDH7, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PDS5A, PGM2, PHOX2B, PHOX2B-AS1, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RBM47, RBPJ, RELL1, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SHISA3, SLAIN2, SLBP, SLC10A4, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TEC, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM175, TMEM271, TMEM33, TNIP2, TRMT44, TXK, UBE2K, UCHL1, UCHL1-DT, UGDH, UGDH-AS1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ATP10D, ATP5ME, ATP8A1, ATP8A1-DT, BEND4, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CHRNA9, CLNK, CLRN2, CNGA1, COMMD8, CORIN, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CWH43, CYTL1, DCAF16, DCAF4L1, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, EVC, EVC2, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GBA3, GNPDA2, GPR78, GRK4, GRPEL1, GRXCR1, GUF1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KIAA0232, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC02171, LINC02261, LINC02265, LINC02270, LINC02278, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447
Neurodevelopmental disorderPathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr4:36424-3883057
GRCh38:
Chr4:36424-3881330
ADD1, ADRA2C, ATP5ME, CFAP99, CPLX1, CRIPAK, CTBP1, CTBP1-AS, CTBP1-DT, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, HTT-AS, IDUA, LETM1, LINC00955, LINC02171, LOC100130872, LOC105374338, LOC105374344, LOC106804089, LOC109461479, LOC110120693, LOC112939930, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LRPAP1, MAEA, MFSD10, MIR4800, MIR571, MIR943, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, RGS12, RNF212, RNF4, SCARNA22, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Dec 17, 2012)
no assertion criteria provided
3.
GRCh37:
Chr4:36424-1957819
GRCh38:
Chr4:36424-1956092
ATP5ME, CPLX1, CRIPAK, CTBP1, CTBP1-AS, CTBP1-DT, DGKQ, FAM53A, FGFR3, FGFRL1, GAK, IDUA, LETM1, LOC100130872, LOC105374338, LOC105374344, LOC110120693, LOC114004382, LOC114004383, LOC116158483, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, MAEA, MIR571, MYL5, NKX1-1, NSD2, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, RNF212, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TMEM271, UVSSA, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
4.
GRCh37:
Chr4:36424-7361544
GRCh38:
Chr4:36424-7359817
ADD1, ADRA2C, ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CPLX1, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, GRPEL1, HAUS3, HGFAC, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC105374338, LOC105374344, LOC106804089, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC128125818, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992152, LOC129992153, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992160, LOC129992161, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC129992166, LOC129992167, LOC129992168, LOC129992169, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4798, MIR4800, MIR571, MIR943, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Sep 4, 2012)
no assertion criteria provided
5.
GRCh37:
Chr4:36424-3975771
GRCh38:
Chr4:36424-3974044
LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LRPAP1, MAEA, MFSD10, MIR4800, MIR571, MIR943, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, RGS12, RNF212, RNF4, SCARNA22, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732, ADD1, ADRA2C, ATP5ME, CFAP99, CPLX1, CRIPAK, CTBP1, CTBP1-AS, CTBP1-DT, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, HTT-AS, IDUA, LETM1, LINC00955, LINC02171, LOC100130872, LOC105374338, LOC105374344, LOC106804089, LOC109461479, LOC110120693, LOC112939930, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082
See casesPathogenic
(May 14, 2012)
no assertion criteria provided
6.
GRCh37:
Chr4:36424-4098729
GRCh38:
Chr4:36424-4097002
LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LRPAP1, MAEA, MFSD10, MIR4800, MIR571, MIR943, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, RGS12, RNF212, RNF4, SCARNA22, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732, ADD1, ADRA2C, ATP5ME, CFAP99, CPLX1, CRIPAK, CTBP1, CTBP1-AS, CTBP1-DT, DGKQ, DOK7, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HGFAC, HTT, HTT-AS, IDUA, LETM1, LINC00955, LINC02171, LOC100130872, LOC105374338, LOC105374344, LOC106804089, LOC109461479, LOC110120693, LOC112939930, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960
See casesPathogenic
(Jun 1, 2012)
no assertion criteria provided
7.
GRCh37:
Chr4:36424-3267258
GRCh38:
Chr4:36424-3265531
ADD1, ATP5ME, CFAP99, CPLX1, CRIPAK, CTBP1, CTBP1-AS, CTBP1-DT, DGKQ, FAM193A, FAM53A, FGFR3, FGFRL1, GAK, GRK4, HAUS3, HTT, HTT-AS, IDUA, LETM1, LOC100130872, LOC105374338, LOC105374344, LOC106804089, LOC109461479, LOC110120693, LOC112939930, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC123466217, LOC123466218, LOC123466219, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, MAEA, MFSD10, MIR4800, MIR571, MIR943, MSANTD1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, RNF212, RNF4, SCARNA22, SH3BP2, SLBP, SLC26A1, SLC49A3, SPON2, TACC3, TMEM129, TMEM175, TMEM271, TNIP2, UVSSA, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732
See casesPathogenic
(Jul 25, 2012)
no assertion criteria provided
8.
GRCh37:
Chr4:36424-9371067
GRCh38:
Chr4:36424-9369341
ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC128125818, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992152, LOC129992153, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992160, LOC129992161, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC129992166, LOC129992167, LOC129992168, LOC129992169, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LOC129992200, LOC129992201, LOC129992202, LOC129992203, LOC129992204, LOC129992205, LOC129992206, LOC129992207, LOC129992208, LOC129992209, LOC129992210, LOC129992211, LOC129992212, LOC129992213, LOC129992214, LOC129992215, LOC129992216, LOC129992217, LOC129992218, LOC129992219, LOC129992220, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR378D1, MIR4274, MIR4798, MIR4800, MIR571, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF595, ZNF718, ZNF721, ZNF732, ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1
See casesPathogenic
(Mar 12, 2012)
no assertion criteria provided
9.
GRCh37:
Chr4:36424-47493612
GRCh38:
Chr4:36424-47491595
ABLIM2, ACOX3, ADD1, ADGRA3, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ATP10D, ATP5ME, ATP8A1, ATP8A1-DT, BEND4, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CFAP99, CHRNA9, CLNK, CLRN2, COMMD8, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DCAF16, DCAF4L1, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, EVC, EVC2, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GBA3, GNPDA2, GPR78, GRK4, GRPEL1, GRXCR1, GUF1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KIAA0232, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC02171, LINC02261, LINC02265, LINC02270, LINC02278, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447, LINC02472, LINC02473, LINC02475, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LOC100129931, LOC100130872, LOC100505912, LOC101928279, LOC101928306, LOC101928532, LOC101928622, LOC101928721, LOC101929161, LOC105374338, LOC105374344, LOC105374409, LOC105374426, LOC105374428, LOC105374438, LOC105374511, LOC105374516, LOC105374556, LOC105374557, LOC105377651, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110011216, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110120787, LOC110121237, LOC110121305, LOC111365176, LOC111465010, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112939924, LOC112939928, LOC112939929, LOC112939930, LOC112939931, LOC112939932, LOC112939933, LOC112939934, LOC112939935, LOC112939936, LOC112942284, LOC112942285, LOC112942286, LOC112942287, LOC112978663, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, LOC121725168, LOC121725169, LOC121725170, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC123477708, LOC123477709, LOC123477710, LOC123477711, LOC123477712, LOC123477713, LOC123477714, LOC123477715, LOC123477716, LOC123477717, LOC123477718, LOC123477719, LOC123477720, LOC123477721, LOC123477723, LOC123477724, LOC123477725, LOC123477726, LOC123477727, LOC123477728, LOC123477729, LOC123477730, LOC123477731, LOC123477732, LOC123477733, LOC123477734, LOC123477735, LOC123477736, LOC123477737, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC126806970, LOC126806971, LOC126806972, LOC129992356, LOC129992357, LOC129992358, LOC129992359, LOC129992360, LOC129992361, LOC129992362, LOC129992363, LOC129992364, LOC129992365, LOC129992366, LOC129992367, LOC129992368, LOC129992369, LOC129992370, LOC129992371, LOC129992372, LOC129992373, LOC129992374, LOC129992375, LOC129992376, LOC129992377, LOC129992378, LOC129992379, LOC129992380, LOC129992381, LOC129992382, LOC129992383, LOC129992384, LOC129992385, LOC129992386, LOC129992387, LOC129992388, LOC129992389, LOC129992390, LOC129992391, LOC129992392, LOC129992393, LOC129992394, LOC129992395, LOC129992396, LOC129992397, LOC129992398, LOC129992399, LOC129992400, LOC129992401, LOC129992402, LOC129992403, LOC129992404, LOC129992405, LOC129992406, LOC129992407, LOC129992408, LOC129992409, LOC129992410, LOC129992411, LOC129992412, LOC129992413, LOC129992414, LOC129992415, LOC129992416, LOC129992417, LOC129992418, LOC129992419, LOC129992420, LOC129992421, LOC129992422, LOC129992423, LOC129992424, LOC129992425, LOC129992426, LOC129992427, LOC129992428, LOC129992429, LOC129992430, LOC129992431, LOC129992432, LOC129992433, LOC129992434, LOC129992435, LOC129992436, LOC129992437, LOC129992438, LOC129992439, LOC129992440, LOC129992441, LOC129992442, LOC129992443, LOC129992444, LOC129992445, LOC129992446, LOC129992447, LOC129992448, LOC129992449, LOC129992450, LOC129992451, LOC129992452, LOC129992453, LOC129992454, LOC129992455, LOC129992456, LOC129992457, LOC129992458, LOC129992459, LOC129992460, LOC129992461, LOC129992462, LOC129992463, LOC129992464, LOC129992465, LOC129992466, LOC129992467, LOC129992468, LOC129992469, LOC129992470, LOC129992471, LOC129992472, LOC129992473, LOC129992474, LOC129992475, LOC129992476, LOC129992477, LOC129992478, LOC129992479, LOC129992480, LOC129992481, LOC129992482, LOC129992483, LOC129992484, LOC129992485, LOC129992486, LOC129992487, LOC129992488, LOC129992489, LOC129992490, LOC129992491, LOC129992492, LOC129992493, LOC129992494, LOC129992495, LOC129992496, LOC129992497, LOC129992498, LOC129992499, LOC129992500, LOC129992501, LOC129992502, LOC129992503, LOC129992504, LOC129992505, LOC129992506, LOC129992507, LOC129992508, LOC129992509, LOC129992510, LOC129992511, LOC129992512, LOC129992513, LOC129992514, LOC129992515, LOC129992516, LOC129992517, LOC129992518, LOC129992519, LOC129992520, LOC129992521, LOC129992522, LOC129992523, LOC129992524, LOC129992525, LOC129992526, LOC129992527, LOC129992528, LOC129992529, LOC129992530, LOC129992531, LOC129992532, LOC129992533, LOC129992534, LOC129992535, LOC129992536, LOC129992537, LOC129992538, LOC129992539, LOC129992540, LOC129992541, LOC129992542, LOC129992543, LOC129992544, LOC129992545, LOC129992546, LOC129992547, LOC132089075, LOC132089111, LOC132089112, LOC132089113, LOC132089114, LOC132089115, LOC132089116, LOC132089117, LOC132089118, LOC132089119, LOC132089120, LOC132089121, LOC132089122, LOC132089123, LOC132089124, LOC132089125, LOC132089126, LOC132089127, LOC132089128, LOC132089129, LOC132089130, LOC132089131, LOC132089132, LOC132089133, LOC132089134, LOC132089135, LOC132089136, LOC132089137, LOC132089138, LOC132089139, LOC132089140, LOC132089141, LOC132089142, LOC132089143, LOC132089144, LOC132089145, LOC132089146, LOC132089147, LOC132089148, LOC132089149, LOC132089150, LOC132089151, LOC132089152, LOC132089153, LOC132089154, LOC132089155, LOC132089156, LOC132089157, LOC132089158, LOC132090704, LOC132090705, LOC132090706, LOC132090707, LOC132205958, LOC389199, LOC439933, LRPAP1, LYAR, MAEA, MAN2B2, MED28, MED28-DT, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4798, MIR4800, MIR4801, MIR4802, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OTOP1, PACRGL, PCDH7, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PDS5A, PGM2, PHOX2B, PHOX2B-AS1, PI4K2B, PIGG, POLN, PPARGC1A, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RBM47, RBPJ, RELL1, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SEL1L3, SEPSECS, SEPSECS-AS1, SH3BP2, SH3TC1, SHISA3, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA75B, SNORD162, SOD3, SORCS2, SPON2, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM175, TMEM271, TMEM33, TNIP2, TRMT44, UBE2K, UCHL1, UCHL1-DT, UGDH, UGDH-AS1, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC126806991, LOC126806992, LOC126806993, LOC126806994, LOC126806995, LOC126806996, LOC126806997, LOC126806998, LOC126806999, LOC126807000, LOC126807001, LOC126807002, LOC126807003, LOC126807004, LOC126807005, LOC126807006, LOC126807007, LOC126807008, LOC126807009, LOC126807010, LOC126807011, LOC126807012, LOC126807013, LOC126807014, LOC126807015, LOC126807016, LOC126807017, LOC126807018, LOC126807019, LOC126807020, LOC126807021, LOC126807022, LOC126807023, LOC126807024, LOC126807025, LOC126807026, LOC126807027, LOC126807028, LOC126807029, LOC126807030, LOC126807031, LOC126807032, LOC126807033, LOC126807034, LOC126807035, LOC126807036, LOC126807037, LOC126807038, LOC126807040, LOC126807041, LOC126807042, LOC126807043, LOC126807044, LOC126807045, LOC126807046, LOC126807047, LOC126807048, LOC126807049, LOC128125818, LOC128854699, LOC128854700, LOC128854701, LOC128854702, LOC129389202, LOC129389203, LOC129389204, LOC129389205, LOC129389206, LOC129389207, LOC129389208, LOC129389209, LOC129389210, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992152, LOC129992153, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992160, LOC129992161, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC129992166, LOC129992167, LOC129992168, LOC129992169, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LOC129992200, LOC129992201, LOC129992202, LOC129992203, LOC129992204, LOC129992205, LOC129992206, LOC129992207, LOC129992208, LOC129992209, LOC129992210, LOC129992211, LOC129992212, LOC129992213, LOC129992214, LOC129992215, LOC129992216, LOC129992217, LOC129992218, LOC129992219, LOC129992220, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC129992232, LOC129992233, LOC129992234, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992242, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC129992294, LOC129992295, LOC129992296, LOC129992297, LOC129992298, LOC129992299, LOC129992300, LOC129992301, LOC129992302, LOC129992303, LOC129992304, LOC129992305, LOC129992306, LOC129992307, LOC129992308, LOC129992309, LOC129992310, LOC129992311, LOC129992312, LOC129992313, LOC129992314, LOC129992315, LOC129992316, LOC129992317, LOC129992318, LOC129992319, LOC129992320, LOC129992321, LOC129992322, LOC129992323, LOC129992324, LOC129992325, LOC129992326, LOC129992327, LOC129992328, LOC129992329, LOC129992330, LOC129992331, LOC129992332, LOC129992333, LOC129992334, LOC129992335, LOC129992336, LOC129992337, LOC129992338, LOC129992339, LOC129992340, LOC129992341, LOC129992342, LOC129992343, LOC129992344, LOC129992345, LOC129992346, LOC129992347, LOC129992348, LOC129992349, LOC129992350, LOC129992351, LOC129992352, LOC129992353, LOC129992354, LOC129992355
See casesPathogenic
(Mar 21, 2011)
no assertion criteria provided
10.
GRCh37:
Chr4:37336-15870679
GRCh38:
Chr4:37335-15869056
TRMT44, USP17L10, USP17L11, USP17L12, USP17L13, USP17L15, USP17L17, USP17L18, USP17L19, USP17L20, USP17L21, USP17L22, USP17L24, USP17L25, USP17L26, USP17L27, USP17L28, USP17L29, USP17L30, USP17L5, UVSSA, WDR1, WFS1, ZBTB49, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121725168, LOC121725169, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC123466232, LOC123466233, LOC123466234, LOC123466235, LOC123477707, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC126806970, LOC126806971, LOC126806972, LOC126806973, LOC126806974, LOC126806975, LOC126806976, LOC126806977, LOC126806978, LOC126806979, LOC126806980, LOC126806981, LOC126806982, LOC126806983, LOC126806984, LOC126806985, LOC126806986, LOC126806987, LOC126806988, LOC126806989, LOC126806990, LOC128125818, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029, LOC129992030, LOC129992031, LOC129992032, LOC129992033, LOC129992034, LOC129992035, LOC129992036, LOC129992037, LOC129992038, LOC129992039, LOC129992040, LOC129992041, LOC129992042, LOC129992043, LOC129992044, LOC129992045, LOC129992046, LOC129992047, LOC129992048, LOC129992049, LOC129992050, LOC129992051, LOC129992052, LOC129992053, LOC129992054, LOC129992055, LOC129992056, LOC129992057, LOC129992058, LOC129992059, LOC129992060, LOC129992061, LOC129992062, LOC129992063, LOC129992064, LOC129992065, LOC129992066, LOC129992067, LOC129992068, LOC129992069, LOC129992070, LOC129992071, LOC129992072, LOC129992073, LOC129992074, LOC129992075, LOC129992076, LOC129992077, LOC129992078, LOC129992079, LOC129992080, LOC129992081, LOC129992082, LOC129992083, LOC129992084, LOC129992085, LOC129992086, LOC129992087, LOC129992088, LOC129992089, LOC129992090, LOC129992091, LOC129992092, LOC129992093, LOC129992094, LOC129992095, LOC129992096, LOC129992097, LOC129992098, LOC129992099, LOC129992100, LOC129992101, LOC129992102, LOC129992103, LOC129992104, LOC129992105, LOC129992106, LOC129992107, LOC129992108, LOC129992109, LOC129992110, LOC129992111, LOC129992112, LOC129992113, LOC129992114, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992119, LOC129992120, LOC129992121, LOC129992122, LOC129992123, LOC129992124, LOC129992125, LOC129992126, LOC129992127, LOC129992128, LOC129992129, LOC129992130, LOC129992131, LOC129992132, LOC129992133, LOC129992134, LOC129992135, LOC129992136, LOC129992137, LOC129992138, LOC129992139, LOC129992140, LOC129992141, LOC129992142, LOC129992143, LOC129992144, LOC129992145, LOC129992146, LOC129992147, LOC129992148, LOC129992149, LOC129992150, LOC129992151, LOC129992152, LOC129992153, LOC129992154, LOC129992155, LOC129992156, LOC129992157, LOC129992158, LOC129992159, LOC129992160, LOC129992161, LOC129992162, LOC129992163, LOC129992164, LOC129992165, LOC129992166, LOC129992167, LOC129992168, LOC129992169, LOC129992170, LOC129992171, LOC129992172, LOC129992173, LOC129992174, LOC129992175, LOC129992176, LOC129992177, LOC129992178, LOC129992179, LOC129992180, LOC129992181, LOC129992182, LOC129992183, LOC129992184, LOC129992185, LOC129992186, LOC129992187, LOC129992188, LOC129992189, LOC129992190, LOC129992191, LOC129992192, LOC129992193, LOC129992194, LOC129992195, LOC129992196, LOC129992197, LOC129992198, LOC129992199, LOC129992200, LOC129992201, LOC129992202, LOC129992203, LOC129992204, LOC129992205, LOC129992206, LOC129992207, LOC129992208, LOC129992209, LOC129992210, LOC129992211, LOC129992212, LOC129992213, LOC129992214, LOC129992215, LOC129992216, LOC129992217, LOC129992218, LOC129992219, LOC129992220, LOC129992221, LOC129992222, LOC129992223, LOC129992224, LOC129992225, LOC129992226, LOC129992227, LOC129992228, LOC129992229, LOC129992230, LOC129992231, LOC129992232, LOC129992233, LOC129992234, LOC129992235, LOC129992236, LOC129992237, LOC129992238, LOC129992239, LOC129992240, LOC129992241, LOC129992242, LOC129992243, LOC129992244, LOC129992245, LOC129992246, LOC129992247, LOC129992248, LOC129992249, LOC129992250, LOC129992251, LOC129992252, LOC129992253, LOC129992254, LOC129992255, LOC129992256, LOC129992257, LOC129992258, LOC129992259, LOC129992260, LOC129992261, LOC129992262, LOC129992263, LOC129992264, LOC129992265, LOC129992266, LOC129992267, LOC129992268, LOC129992269, LOC129992270, LOC129992271, LOC129992272, LOC129992273, LOC129992274, LOC129992275, LOC129992276, LOC129992277, LOC129992278, LOC129992279, LOC129992280, LOC129992281, LOC129992282, LOC129992283, LOC129992284, LOC129992285, LOC129992286, LOC129992287, LOC129992288, LOC129992289, LOC129992290, LOC129992291, LOC129992292, LOC129992293, LOC389199, LRPAP1, LYAR, MAEA, MAN2B2, MFSD10, MIR12113, MIR3138, MIR378D1, MIR4274, MIR4798, MIR4800, MIR5091, MIR548I2, MIR571, MIR572, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, NAT8L, NELFA, NICOL1, NKX1-1, NKX3-2, NOP14, NOP14-AS1, NSD2, NSG1, OTOP1, PCGF3, PCGF3-AS1, PDE6B, PDE6B-AS1, PIGG, POLN, PPP2R2C, PSAPL1, RAB28, RGS12, RNF212, RNF4, S100P, SCARNA22, SH3BP2, SH3TC1, SLBP, SLC26A1, SLC2A9, SLC2A9-AS1, SLC49A3, SNORD162, SORCS2, SPON2, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TBC1D14, TMEM128, TMEM129, TMEM175, TMEM271, TNIP2, ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf50, CC2D2A, CCDC96, CD38, CFAP99, CLNK, CPEB2, CPEB2-DT, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DEFB131A, DGKQ, DOK7, DRD5, EVC, EVC2, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00504, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01396, LINC01587, LINC02171, LINC02270, LINC02360, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107986178, LOC107992393, LOC109461479, LOC110120633, LOC110120693, LOC110120757, LOC110120784, LOC110121237, LOC111519897, LOC111828517
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
11.
GRCh37:
Chr4:37336-9370984
GRCh38:
Chr4:37335-9369258
ABLIM2, ACOX3, ADD1, ADRA2C, AFAP1, AFAP1-AS1, ATP5ME, BLOC1S4, C4orf50, CCDC96, CFAP99, CPLX1, CPZ, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CYTL1, DGKQ, DOK7, EVC, EVC2, FAM193A, FAM53A, FAM90A26, FGFR3, FGFRL1, GAK, GPR78, GRK4, GRPEL1, HAUS3, HGFAC, HMX1, HTRA3, HTT, HTT-AS, IDUA, JAKMIP1, JAKMIP1-DT, KIAA0232, LETM1, LINC00955, LINC01396, LINC01587, LINC02171, LINC02447, LINC02481, LINC02482, LINC02517, LOC100129931, LOC100130872, LOC101928279, LOC101928306, LOC101928532, LOC105374338, LOC105374344, LOC106804089, LOC107992393, LOC109461479, LOC110120693, LOC110120757, LOC110121237, LOC111519897, LOC112939930, LOC112939936, LOC112942284, LOC112978664, LOC112978667, LOC112978668, LOC112997536, LOC114004382, LOC114004383, LOC116158483, LOC116158484, LOC121048737, LOC121048738, LOC121725168, LOC123466217, LOC123466218, LOC123466219, LOC123466220, LOC123466221, LOC123466222, LOC123466223, LOC123466224, LOC123466225, LOC123466226, LOC123466227, LOC123466228, LOC123466229, LOC123466230, LOC123466231, LOC126806939, LOC126806940, LOC126806941, LOC126806942, LOC126806943, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC126806950, LOC126806951, LOC126806952, LOC126806953, LOC126806954, LOC126806955, LOC126806956, LOC126806957, LOC126806958, LOC126806959, LOC126806960, LOC126806961, LOC126806962, LOC126806963, LOC126806964, LOC126806965, LOC126806966, LOC126806967, LOC126806968, LOC126806969, LOC128125818, LOC129929027, LOC129991944, LOC129991945, LOC129991946, LOC129991947, LOC129991948, LOC129991949, LOC129991950, LOC129991951, LOC129991952, LOC129991953, LOC129991954, LOC129991955, LOC129991956, LOC129991957, LOC129991958, LOC129991959, LOC129991960, LOC129991961, LOC129991962, LOC129991963, LOC129991964, LOC129991965, LOC129991966, LOC129991967, LOC129991968, LOC129991969, LOC129991970, LOC129991971, LOC129991972, LOC129991973, LOC129991974, LOC129991975, LOC129991976, LOC129991977, LOC129991978, LOC129991979, LOC129991980, LOC129991981, LOC129991982, LOC129991983, LOC129991984, LOC129991985, LOC129991986, LOC129991987, LOC129991988, LOC129991989, LOC129991990, LOC129991991, LOC129991992, LOC129991993, LOC129991994, LOC129991995, LOC129991996, LOC129991997, LOC129991998, LOC129991999, LOC129992000, LOC129992001, LOC129992002, LOC129992003, LOC129992004, LOC129992005, LOC129992006, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992017, LOC129992018, LOC129992019, LOC129992020, LOC129992021, LOC129992022, LOC129992023, LOC129992024, LOC129992025, LOC129992026, LOC129992027, LOC129992028, LOC129992029,