U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 118

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh38:
Chr4:85624-57073230
ADGRA3, IGFBP7, LOC112939924, LOC112939928, LOC126806943, LOC126807046, LOC129992001, LOC129992002, LOC129992115, LOC129992116, LOC129992117, LOC129992118, LOC129992007, LOC129992008, LOC129992009, LOC129992010, LOC129992011, LOC129992012, LOC129992013, LOC129992014, LOC129992015, LOC129992016, LOC129992003, LOC129992004, LOC129992017, LOC129992018, LOC129992005, LOC129992006, LOC126807052, LOC126807053, LOC126807054, LOC126807048, LOC126807049, LOC126806944, LOC126806945, LOC126806946, LOC126806947, LOC126806948, LOC126806949, LOC112978667, LOC112978668, LOC126806950, LOC126806951, LOC126807047, LOC126807050, LOC126807051, LOC112939929, LOC112939930, JAKMIP1-DT, KCNIP4, KCNIP4-IT1, KCTD8, KDR, KIAA0232, LOC112939931, LOC112939932, LOC112939933, LOC112939934, LOC112939935, LOC112939936, LOC112942284, LOC112942285, LOC112942286, LOC112942287, ADRA2C, AFAP1, AFAP1-AS1, ANAPC4, APBB2, ARAP2, ARL9, ATP10D, LOC112978663, LOC112978664, JAKMIP1, KIT, AASDH, ABLIM2, ACOX3, ADD1, ATP5ME, ATP8A1, ATP8A1-DT, BEND4, BLOC1S4, BOD1L1, BST1, C1QTNF7, C1QTNF7-AS1, C4orf19, C4orf50, CC2D2A, CCDC149, CCDC96, CCKAR, CD38, CEP135, CFAP99, CHIC2, CHRNA9, CLNK, CLOCK, CLRN2, CNGA1, COMMD8, CORIN, COX7B2, CPEB2, CPEB2-DT, CPLX1, CPZ, CRACD, CRIPAK, CRMP1, CTBP1, CTBP1-AS, CTBP1-DT, CWH43, CYTL1, DANCR, DCAF16, DCAF4L1, DCUN1D4, DEFB131A, DGKQ, DHX15, DOK7, DRD5, DTHD1, ERVMER34-1, EVC, EVC2, EXOC1, EXOC1L, FAM114A1, FAM184B, FAM193A, FAM200B, FAM53A, FAM90A26, FBXL5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FIP1L1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GAK, GBA3, GNPDA2, GPR78, GRK4, GRPEL1, GRXCR1, GSX2, GUF1, HAUS3, HGFAC, HMX1, HOPX, HS3ST1, HTRA3, HTT, HTT-AS, IDUA, KLB, KLF3, KLF3-AS1, KLHL5, LAP3, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LINC00504, LINC00682, LINC00955, LINC01085, LINC01096, LINC01097, LINC01182, LINC01258, LINC01259, LINC01396, LINC01587, LINC01618, LINC02171, LINC02260, LINC02261, LINC02265, LINC02270, LINC02278, LINC02283, LINC02353, LINC02360, LINC02364, LINC02383, LINC02447, LINC02472, LINC02473, LINC02475, LINC02480, LINC02481, LINC02482, LINC02484, LINC02493, LINC02497, LINC02501, LINC02505, LINC02506, LINC02513, LINC02517, LINC02616, LNX1, LNX1-AS1, LNX1-AS2, LOC100129931, LOC100130872, LOC100505912, LOC100506444, 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, LOC110120742, LOC110120745, LOC110120757, LOC110120784, LOC110120787, LOC110121111, LOC110121177, LOC110121183, LOC110121237, LOC110121305, LOC110121309, LOC111365176, LOC111465010, LOC111465013, LOC111519897, LOC111721707, LOC111828517, LOC112997536, LOC114004382, LOC114004383, LOC114004385, LOC114004386, LOC114827818, LOC116158483, LOC116158484, LOC116158485, LOC116158486, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121048737, LOC121048738, LOC121048739, LOC121048740, LOC121048741, LOC121048742, LOC121048743, LOC121048744, LOC121048745, LOC121053178, LOC121053179, LOC121053180, 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, LOC123477741, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126806939, LOC126806940, LOC126806941, LOC126806942, 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, 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, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, 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, 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, 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, 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, LOC129992548, LOC129992549, LOC129992550, LOC129992551, LOC129992552, LOC129992553, LOC129992554, LOC129992555, LOC129992556, LOC129992557, LOC129992558, LOC129992559, LOC129992560, LOC129992561, LOC129992562, LOC129992563, LOC129992564, LOC129992565, LOC129992566, LOC129992567, LOC129992568, LOC129992569, LOC129992570, LOC129992571, LOC129992572, LOC129992573, LOC129992574, LOC129992575, LOC129992576, LOC129992577, LOC129992578, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, 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, LRRC66, LYAR, MAEA, MAN2B2, MED28, MED28-DT, MFSD10, MIR12113, MIR12115, MIR1255B1, MIR218-1, MIR3138, MIR378D1, MIR4274, MIR4275, MIR4449, MIR4798, MIR4800, MIR4801, MIR4802, MIR5091, MIR548I2, MIR5591, MIR571, MIR572, MIR573, MIR574, MIR7978, MIR8053, MIR943, MIR95, MRFAP1, MRFAP1L1, MRFAP1L2, MSANTD1, MSX1, MXD4, MYL5, N4BP2, NAT8L, NCAPG, NELFA, NFXL1, NICOL1, NIPAL1, NKX1-1, NKX3-2, NMU, NOA1, NOP14, NOP14-AS1, NSD2, NSG1, NSUN7, NWD2, OCIAD1, OCIAD1-AS1, OCIAD2, OTOP1, PACRGL, PAICS, PCDH7, PCGF3, PCGF3-AS1, PDCL2, PDE6B, PDE6B-AS1, PDGFRA, PDS5A, PGM2, PHOX2B, PHOX2B-AS1, PI4K2B, PIGG, POLN, POLR2B, PPARGC1A, PPAT, PPP2R2C, PROM1, PSAPL1, PTTG2, QDPR, RAB28, RASL11B, RBM47, RBPJ, RELL1, REST, RFC1, RGS12, RHOH, RNF212, RNF4, RPL9, S100P, SCARNA22, SCFD2, SEL1L3, SEPSECS, SEPSECS-AS1, SGCB, SH3BP2, SH3TC1, SHISA3, SLAIN2, SLBP, SLC10A4, SLC26A1, SLC2A9, SLC2A9-AS1, SLC30A9, SLC34A2, SLC49A3, SLIT2, SLIT2-IT1, SMIM14, SMIM14-DT, SMIM20, SNORA26, SNORA75B, SNORD162, SOD3, SORCS2, SPATA18, SPINK2, SPMAP2L, SPON2, SRD5A3, SRD5A3-AS1, SRP72, STIM2, STIM2-AS1, STK32B, STX18, STX18-AS1, STX18-IT1, TACC3, TADA2B, TAPT1, TAPT1-AS1, TBC1D1, TBC1D14, TBC1D19, TEC, TLR1, TLR10, TLR6, TMEM128, TMEM129, TMEM156, TMEM165, 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, USP46, USP46-DT, UVSSA, WDR1, WDR19, WFS1, YIPF7, ZAR1, ZBTB49, ZCCHC4, ZFYVE28, ZNF141, ZNF518B, ZNF595, ZNF718, ZNF721, ZNF732
Neurodevelopmental disorderPathogenic
(Aug 24, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr4:44358218-63111600
GRCh38:
Chr4:44356201-62245882
AASDH, ADGRL3, ADGRL3-AS1, ARL9, ATP10D, CEP135, CHIC2, CLOCK, CNGA1, COMMD8, CORIN, COX7B2, CRACD, CWH43, DANCR, DCUN1D4, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, FRYL, GABRA2, GABRA4, GABRB1, GABRG1, GNPDA2, GSX2, GUF1, HOPX, IGFBP7, IGFBP7-AS1, KCTD8, KDR, KIT, LINC01618, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02496, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927157, LOC101927179, LOC105377672, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC110121309, LOC112978663, LOC114004386, LOC116158486, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121048744, LOC121048745, LOC121053178, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477735, LOC123477736, LOC123477737, LOC123477738, LOC123477739, LOC123477740, LOC123477741, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC126807048, LOC126807049, LOC126807050, LOC126807051, LOC126807052, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC129389210, LOC129992541, LOC129992542, LOC129992543, LOC129992544, LOC129992545, LOC129992546, LOC129992547, LOC129992548, LOC129992549, LOC129992550, LOC129992551, LOC129992552, LOC129992553, LOC129992554, LOC129992555, LOC129992556, LOC129992557, LOC129992558, LOC129992559, LOC129992560, LOC129992561, LOC129992562, LOC129992563, LOC129992564, LOC129992565, LOC129992566, LOC129992567, LOC129992568, LOC129992569, LOC129992570, LOC129992571, LOC129992572, LOC129992573, LOC129992574, LOC129992575, LOC129992576, LOC129992577, LOC129992578, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LRRC66, MIR4449, MIR548AG1, MIR8053, NFXL1, NIPAL1, NMU, NOA1, OCIAD1, OCIAD1-AS1, OCIAD2, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SLAIN2, SLC10A4, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TEC, TMEM165, TXK, USP46, USP46-DT, YIPF7, ZAR1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr4:52697788-98426769
GRCh38:
Chr4:51831622-97505618
LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129389220, LOC129389221, LOC129389222, LOC129389223, LOC129389224, LOC129389225, LOC129389226, LOC129389227, LOC129389228, LOC129389229, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, LOC129992683, LOC129992684, LOC129992685, LOC129992686, LOC129992687, LOC129992688, LOC129992689, LOC129992690, LOC129992691, LOC129992692, LOC129992693, LOC129992694, LOC129992695, LOC129992696, LOC129992697, LOC129992698, LOC129992699, LOC129992700, LOC129992701, LOC129992702, LOC129992703, LOC129992704, LOC129992705, LOC129992706, LOC129992707, LOC129992708, LOC129992709, LOC129992710, LOC129992711, LOC129992712, LOC129992713, LOC129992714, LOC129992715, LOC129992716, LOC129992717, LOC129992718, LOC129992719, LOC129992720, LOC129992721, LOC129992722, LOC129992723, LOC129992724, LOC129992725, LOC129992726, LOC129992727, LOC129992728, LOC129992729, LOC129992730, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, LOC129992737, LOC129992738, LOC129992739, LOC129992740, LOC129992741, LOC129992742, LOC129992743, LOC129992744, LOC129992745, LOC129992746, LOC129992747, LOC129992748, LOC129992749, LOC129992750, LOC129992751, LOC129992752, LOC129992753, LOC129992754, LOC129992755, LOC129992756, LOC129992757, LOC129992758, LOC129992759, LOC129992760, LOC129992761, LOC129992762, LOC129992763, LOC129992764, LOC129992765, LOC129992766, LOC129992767, LOC129992768, LOC129992769, LOC129992770, LOC129992771, LOC129992772, LOC129992773, LOC129992774, LOC129992775, LOC129992776, LOC129992777, LOC129992778, LOC129992779, LOC129992780, LOC129992781, LOC129992782, LOC129992783, LOC129992784, LOC129992785, LOC129992786, LOC129992787, LOC129992788, LOC129992789, LOC129992790, LOC129992791, LOC129992792, LOC129992793, LOC129992794, LOC129992795, LOC129992796, LOC129992797, LOC129992798, LOC129992799, LOC129992800, LOC129992801, LOC129992802, LOC129992803, LOC129992804, LOC129992805, LOC129992806, LOC129992807, LOC129992808, LOC129992809, LOC129992810, LOC129992811, LOC129992812, LOC129992813, LOC129992814, LOC129992815, LOC129992816, LOC129992817, LOC129992818, LOC129992819, LOC129992820, LOC129992821, LOC129992822, LOC129992823, LOC129992824, LOC129992825, LOC129992826, LOC129992827, LOC129992828, LOC129992829, LOC129992830, LOC129992831, LOC129992832, LOC129992833, LOC129992834, LOC129992835, LOC129992836, LOC129992837, LOC129992838, LOC129992839, LOC129992840, LOC129992841, LOC129992842, LOC129992843, LOC129992844, LOC129992845, LOC129992846, LOC129992847, LOC550113, LRRC66, MAPK10, MAPK10-AS1, MEPE, MIR1269A, MIR4449, MIR4450, MIR4451, MIR4452, MIR548AG1, MIR548AH, MIR5705, MIR575, MMRN1, MOB1B, MRPL1, MRPS18C, MTHFD2L, MUC7, NAA11, NAAA, NAP1L5, NKX6-1, NMU, NOA1, NPFFR2, NUDT9, NUP54, ODAM, ODAPH, OPRPN, PAICS, PAQR3, PARM1, PARM1-AS1, PCAT4, PDCL2, PDGFRA, PDHA2, PDLIM5, PF4, PF4V1, PIGY, PIGY-DT, PKD2, PLAC8, POLR2B, PPAT, PPBP, PPEF2, PPM1K, PPM1K-DT, PRDM8, PRDM8-AS1, PRKG2, PRKG2-AS1, PRR27, PTPN13, PYURF, RASGEF1B, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCARB2, SCD5, SCFD2, SCPPPQ1, SDAD1, SDAD1-AS1, SEC31A, SEPTIN11, SGCB, SHROOM3, SHROOM3-AS1, SLC10A6, SLC4A4, SMARCAD1, SMARCAD1-DT, SMR3A, SMR3B, SNCA, SNCA-AS1, SNORA26, SNORD143, SNORD144, SNORD161, SOWAHB, SPARCL1, SPATA18, SPINK2, SPMAP2L, SPP1, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, STBD1, STPG2, STPG2-AS1, SULT1B1, SULT1E1, TECRL, THAP6, THAP9, THAP9-AS1, TIGD2, TMEM150C, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, UNC5C, UNC5C-AS1, USO1, USP46, USP46-DT, UTP3, WDFY3, WDFY3-AS1, WDFY3-AS2, YTHDC1, AASDH, ABCG2, ABRAXAS1, ADAMTS3, ADGRL3, ADGRL3-AS1, AFF1, AFF1-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, ANTXR2, ANXA3, AREG, ARHGAP24, ARL9, ART3, ATOH1, BMP2K, BMP2K-DT, BMP3, BMPR1B, BMPR1B-DT, BTC, C4orf36, CABS1, CCDC158, CCNG2, CCNI, CCSER1, CDKL2, CDS1, CENPC, CEP135, CFAP299, CHIC2, CLOCK, CNOT6L, COPS4, COQ2, COX18, CRACD, CSN1S1, CSN2, CSN3, CXCL1, CXCL10, CXCL11, CXCL13, CXCL2, CXCL3, CXCL5, CXCL6, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, DMP1, DSPP, ENAM, ENOPH1, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FAM13A, FAM13A-AS1, FAM47E, FAM47E-STBD1, FDCSP, FGF5, FIP1L1, FRAS1, G3BP2, GC, GK2, GNRHR, GPAT3, GPRIN3, GRID2, GRSF1, GSX2, HELQ, HERC3, HERC5, HERC6, HNRNPD, HNRNPD-DT, HNRNPDL, HOPX, HPGDS, HPSE, HSD17B11, HSD17B13, HTN1, HTN3, IBSP, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, KIT, KLHL8, LIN54, LINC00575, LINC00989, LINC01088, LINC01094, LINC01618, LINC02232, LINC02260, LINC02267, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LINC02994, LNCPRESS2, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC101928893, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC107988048, LOC110120742, LOC110120743, LOC110120745, LOC110120752, LOC110120783, LOC110121083, LOC110121104, LOC110121111, LOC110121177, LOC110121183, LOC110283621, LOC110351180, LOC111365205, LOC111589210, LOC111591506, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC112978671, LOC112997534, LOC112997535, LOC112997537, LOC112997538, LOC112997539, LOC112997540, LOC112997541, LOC112997542, LOC112997543, LOC112997544, LOC112997545, LOC112997546, LOC112997547, LOC114004386, LOC114803476, LOC114827842, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC116158494, LOC116158495, LOC116158496, LOC116158497, LOC116158498, LOC116158499, LOC116158500, LOC116158501, LOC116158502, LOC116158503, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC121053187, LOC121053188, LOC121725171, LOC121725172, LOC121725173, LOC121725174, LOC121725175, LOC121725176, LOC121725177, LOC121725178, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC123477767, LOC123477768, LOC123477769, LOC123477770, LOC123477771, LOC123477772, LOC123477773, LOC123477774, LOC123477775, LOC123477776, LOC123477777, LOC123477778, LOC123477779, LOC123477780, LOC123477781, LOC123477782, LOC123477783, LOC123477784, LOC123477785, LOC123477786, LOC123477787, LOC123477788, LOC123477789, LOC123477790, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC126807084, LOC126807085, LOC126807086, LOC126807087, LOC126807088, LOC126807089, LOC126807090, LOC126807091, LOC126807092, LOC126807093, LOC126807094, LOC126807095, LOC126807096, LOC126807097, LOC126807098, LOC126807099, LOC126807100, LOC126807101, LOC126807102, LOC126807103, LOC126807104, LOC126807105, LOC126807106, LOC126807107, LOC126807108, LOC126807109, LOC126807110, LOC126807111, LOC126807112, LOC126807113, LOC126807114, LOC126807115, LOC126807116, LOC126807117, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr4:52697788-67857207
GRCh38:
Chr4:51831622-66991489
AASDH, ADGRL3, ADGRL3-AS1, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, EPHA5, EPHA5-AS1, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02496, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC105377253, LOC105377672, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC129389211, LOC129992579, LOC129992580, LOC129992581, LOC129992582, LOC129992583, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LRRC66, MIR1269A, MIR4449, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TECRL, TMEM165, USP46, USP46-DT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr4:52736191-55968559
GRCh38:
Chr4:51870025-55102392
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh38:
Chr4:51891814-76009719
CDKL2, LOC112978671, LOC114004386, LOC129992588, LOC129992589, LOC129992683, LOC129992684, USO1, LOC129992685, LOC129992686, MIR4449, MIR548AG1, MOB1B, NMU, NOA1, NPFFR2, LOC550113, LRRC66, MIR1269A, MTHFD2L, MUC7, NAAA, ODAM, ODAPH, OPRPN, USP46, USP46-DT, UTP3, LOC129992590, LOC129992591, LOC129992592, LOC129992607, LOC129992608, LOC129992593, LOC129992594, LOC129992595, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053180, LOC121053181, LOC129992609, LOC129992610, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, CENPC, CEP135, CSN2, CSN3, CXCL1, CXCL2, CXCL3, CXCL5, CXCL6, COX18, CRACD, CHIC2, CLOCK, CSN1S1, LOC114803476, LOC114827842, LOC121053182, LOC121053183, LOC121053184, LOC121053185, LOC121053186, LOC116158494, LOC116158495, LOC116158496, LOC121053179, AASDH, ADAMTS3, ADGRL3, ADGRL3-AS1, AFM, AFP, ALB, AMBN, AMTN, ANKRD17, ANKRD17-DT, AREG, ARL9, BTC, CABS1, CXCL8, CXCL9, DANCR, DCK, DCUN1D4, ENAM, EPGN, EPHA5, EPHA5-AS1, EREG, ERVMER34-1, EXOC1, EXOC1L, FDCSP, FIP1L1, G3BP2, GC, GNRHR, GRSF1, GSX2, HOPX, HTN1, HTN3, IGFBP7, IGFBP7-AS1, INKILN, JCHAIN, KDR, KIT, LINC01618, LINC02232, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02480, LINC02483, LINC02494, LINC02496, LINC02499, LINC02562, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC101927237, LOC105377253, LOC105377267, LOC105377276, LOC105377672, LOC110120742, LOC110120745, LOC110120783, LOC110121111, LOC110121177, LOC110121183, LOC111589210, LOC111828520, LOC111832670, LOC111832671, LOC112978669, LOC112978670, LOC121725171, LOC121725172, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC123477750, LOC123477751, LOC123477752, LOC123477753, LOC123477754, LOC123477755, LOC123477756, LOC123477757, LOC123477758, LOC123477759, LOC123477760, LOC123477761, LOC123477762, LOC123477763, LOC123477764, LOC123477765, LOC123477766, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, LOC126807065, LOC126807066, LOC126807067, LOC126807068, LOC126807069, LOC126807070, LOC126807071, LOC126807072, LOC126807073, LOC126807074, LOC126807075, LOC126807076, LOC126807077, LOC126807078, LOC126807079, LOC126807080, LOC126807081, LOC126807082, LOC126807083, LOC129389211, LOC129389212, LOC129389213, LOC129389214, LOC129389215, LOC129389216, LOC129389217, LOC129389218, LOC129389219, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LOC129992643, LOC129992644, LOC129992645, LOC129992646, LOC129992647, LOC129992648, LOC129992649, LOC129992650, LOC129992651, LOC129992652, LOC129992653, LOC129992654, LOC129992655, LOC129992656, LOC129992657, LOC129992658, LOC129992659, LOC129992660, LOC129992661, LOC129992662, LOC129992663, LOC129992664, LOC129992665, LOC129992666, LOC129992667, LOC129992668, LOC129992669, LOC129992670, LOC129992671, LOC129992672, LOC129992673, LOC129992674, LOC129992675, LOC129992676, LOC129992677, LOC129992678, LOC129992679, LOC129992680, LOC129992681, LOC129992682, PAICS, PARM1, PARM1-AS1, PDCL2, PDGFRA, PF4, PF4V1, POLR2B, PPAT, PPBP, PPEF2, PRR27, RASL11B, RASSF6, RCHY1, REST, RUFY3, SCFD2, SDAD1, SDAD1-AS1, SGCB, SLC4A4, SMR3A, SMR3B, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, STAP1, STATH, SULT1B1, SULT1E1, TECRL, THAP6, TMEM165, TMPRSS11A, TMPRSS11B, TMPRSS11D, TMPRSS11E, TMPRSS11F, UBA6, UBA6-DT, UGT2A1, UGT2A2, UGT2A3, UGT2B10, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UMLILO, YTHDC1
Partial albinismPathogeniccriteria provided, single submitter
7.
GRCh37:
Chr4:52766026-60850197
GRCh38:
Chr4:51899860-59984479
LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, LRRC66, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SGCB, SNORA26, SPATA18, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TMEM165, USP46, USP46-DT, AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, DCUN1D4, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02380, LINC02429, LINC02480, LINC02494, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC105377672, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC129992584, LOC129992585, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr4:53505185-60850197
GRCh38:
Chr4:52639018-59984479
AASDH, ARL9, CEP135, CHIC2, CLOCK, CRACD, DANCR, ERVMER34-1, EXOC1, EXOC1L, FIP1L1, GSX2, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02380, LINC02429, LINC02494, LINC02619, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC105377672, LOC110120742, LOC110120745, LOC110121111, LOC110121177, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121725171, LOC123477742, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC126807053, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC129992586, LOC129992587, LOC129992588, LOC129992589, LOC129992590, LOC129992591, LOC129992592, LOC129992593, LOC129992594, LOC129992595, LOC129992596, LOC129992597, LOC129992598, LOC129992599, LOC129992600, LOC129992601, LOC129992602, LOC129992603, LOC129992604, LOC129992605, LOC129992606, LOC129992607, LOC129992608, LOC129992609, LOC129992610, LOC129992611, LOC129992612, LOC129992613, LOC129992614, LOC129992615, LOC129992616, LOC129992617, LOC129992618, LOC129992619, LOC129992620, LOC129992621, LOC129992622, LOC129992623, LOC129992624, LOC129992625, LOC129992626, LOC129992627, LOC129992628, LOC129992629, LOC129992630, LOC129992631, LOC129992632, LOC129992633, LOC129992634, LOC129992635, LOC129992636, LOC129992637, LOC129992638, LOC129992639, LOC129992640, LOC129992641, LOC129992642, MIR4449, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, RASL11B, REST, SCFD2, SNORA26, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TMEM165, USP46, USP46-DT
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr4:55064768-63135833
GRCh38:
Chr4:54198601-62270115
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr4:55946169
GRCh38:
Chr4:55080002
KDRG1337DInborn genetic diseasesUncertain significance
(Oct 12, 2021)
criteria provided, single submitter
11.
GRCh37:
Chr4:55946291
GRCh38:
Chr4:55080124
KDRnot providedLikely benign
(Nov 10, 2017)
criteria provided, single submitter
12.
GRCh37:
Chr4:55946307
GRCh38:
Chr4:55080140
KDRR1291Mnot providedUncertain significance
(Mar 1, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr4:55948108
GRCh38:
Chr4:55081941
KDRnot specified, Capillary infantile hemangiomaBenignno assertion criteria provided
14.
GRCh37:
Chr4:55948154
GRCh38:
Chr4:55081987
KDRE1273QInborn genetic diseasesUncertain significance
(Jun 21, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr4:55948163
GRCh38:
Chr4:55081996
KDRK1270Qnot specifiednot provided
(Sep 19, 2013)
no assertion provided
16.
GRCh37:
Chr4:55948181
GRCh38:
Chr4:55082014
KDRL1264FInborn genetic diseasesUncertain significance
(Jan 26, 2023)
criteria provided, single submitter
17.
GRCh37:
Chr4:55948198
GRCh38:
Chr4:55082031
KDRT1258MTeratomaUncertain significance
(Jan 1, 2023)
no assertion criteria provided
18.
GRCh37:
Chr4:55948779
GRCh38:
Chr4:55082612
KDRR1229QInborn genetic diseasesUncertain significance
(Dec 1, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr4:55955049
GRCh38:
Chr4:55088882
KDRA1166TInborn genetic diseasesUncertain significance
(Sep 7, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr4:55955058
GRCh38:
Chr4:55088891
KDRL1163FCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
21.
GRCh37:
Chr4:55955070
GRCh38:
Chr4:55088903
KDRH1159YInborn genetic diseasesUncertain significance
(Apr 6, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr4:55955080
GRCh38:
Chr4:55088913
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
23.
GRCh37:
Chr4:55955100
GRCh38:
Chr4:55088933
KDRQ1149Enot providedUncertain significanceno assertion criteria provided
24.
GRCh37:
Chr4:55955104
GRCh38:
Chr4:55088937
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
25.
GRCh37:
Chr4:55955106
GRCh38:
Chr4:55088939
KDRP1147SCapillary infantile hemangiomaPathogenic
(Mar 1, 2002)
no assertion criteria provided
26.
GRCh37:
Chr4:55955144
GRCh38:
Chr4:55088977
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
27.
GRCh37:
Chr4:55956183
GRCh38:
Chr4:55090016
KDRnot providedBenign
(Nov 9, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr4:55956225
GRCh38:
Chr4:55090058
KDRnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
29.
GRCh37:
Chr4:55958847
GRCh38:
Chr4:55092680
KDRL1002FCapillary infantile hemangiomaUncertain significance
(Feb 1, 2022)
no assertion criteria provided
30.
GRCh37:
Chr4:55960966
GRCh38:
Chr4:55094799
KDRnot providedUncertain significance
(Jun 25, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr4:55961818
GRCh38:
Chr4:55095651
KDRI915Vnot providedLikely benign
(Jul 30, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr4:55962403
GRCh38:
Chr4:55096236
KDRK907NCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
33.
GRCh37:
Chr4:55962419
GRCh38:
Chr4:55096252
KDRL902QCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
34.
GRCh37:
Chr4:55962448
GRCh38:
Chr4:55096281
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
35.
GRCh37:
Chr4:55962450
GRCh38:
Chr4:55096283
KDRI892Vnot specifiednot provided
(Sep 19, 2013)
no assertion provided
36.
GRCh37:
Chr4:55962468
GRCh38:
Chr4:55096301
KDRL886ICarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
37.
GRCh37:
Chr4:55962532
GRCh38:
Chr4:55096365
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
38.
GRCh37:
Chr4:55963845
GRCh38:
Chr4:55097678
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
39.
GRCh37:
Chr4:55963887
GRCh38:
Chr4:55097720
KDRnot providedLikely benign
(Aug 23, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr4:55963894
GRCh38:
Chr4:55097727
KDRE850AInborn genetic diseasesUncertain significance
(Dec 28, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr4:55963899
GRCh38:
Chr4:55097732
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
42.
GRCh37:
Chr4:55963918
GRCh38:
Chr4:55097751
KDRR842Hnot providedLikely benign
(Dec 7, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr4:55963960
GRCh38:
Chr4:55097793
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
44.
GRCh37:
Chr4:55964284
GRCh38:
Chr4:55098117
KDRCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
45.
GRCh37:
Chr4:55964433
GRCh38:
Chr4:55098266
KDRG794RCarcinoma of colonUncertain significance
(Jan 24, 2015)
no assertion criteria provided
46.
GRCh37:
Chr4:55964439
GRCh38:
Chr4:55098272
KDRA792TInborn genetic diseasesUncertain significance
(Jul 13, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr4:55964877
GRCh38:
Chr4:55098710
KDRR787QMalignant tumor of prostateUncertain significanceno assertion criteria provided
48.
GRCh37:
Chr4:55964925
GRCh38:
Chr4:55098758
KDRT771Mnot providedLikely benign
(Oct 1, 2023)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr4:55964932
GRCh38:
Chr4:55098765
KDRV769Inot specifiednot provided
(Sep 19, 2013)
no assertion provided
50.
GRCh37:
Chr4:55964967
GRCh38:
Chr4:55098800
KDRA757GInborn genetic diseasesUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr4:55968063
GRCh38:
Chr4:55101896
KDRnot providedUncertain significance
(Mar 14, 2018)
criteria provided, single submitter
52.
GRCh37:
Chr4:55968072
GRCh38:
Chr4:55101905
KDRI753KInborn genetic diseasesUncertain significance
(May 30, 2023)
criteria provided, single submitter
53.
GRCh37:
Chr4:55968087
GRCh38:
Chr4:55101920
KDRV748GInborn genetic diseasesUncertain significance
(Jun 30, 2023)
criteria provided, single submitter
54.
GRCh37:
Chr4:55968148
GRCh38:
Chr4:55101981
KDRR728GInborn genetic diseasesUncertain significance
(May 31, 2023)
criteria provided, single submitter
55.
GRCh37:
Chr4:55968585
GRCh38:
Chr4:55102418
KDRN693TInborn genetic diseasesUncertain significance
(Jun 6, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr4:55968597
GRCh38:
Chr4:55102430
KDRT689Mnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr4:55968641
GRCh38:
Chr4:55102474
KDRE674Dnot providedLikely benign
(Jan 3, 2019)
criteria provided, single submitter
58.
GRCh37:
Chr4:55968651
GRCh38:
Chr4:55102484
KDRG671EInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Mar 3, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr4:55970782
GRCh38:
Chr4:55104615
KDRnot specifiednot provided
(Sep 19, 2013)
no assertion provided
60.
GRCh37:
Chr4:55970819
GRCh38:
Chr4:55104652
KDRT660AInborn genetic diseasesUncertain significance
(Nov 16, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr4:55970867
GRCh38:
Chr4:55104700
KDRA644TInborn genetic diseasesUncertain significance
(Nov 17, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr4:55970963
GRCh38:
Chr4:55104796
KDRnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr4:55971029
GRCh38:
Chr4:55104862
KDRP590Snot providedLikely benign
(Jul 1, 2023)
criteria provided, single submitter
64.
GRCh37:
Chr4:55971052
GRCh38:
Chr4:55104885
KDRT582RInborn genetic diseasesUncertain significance
(Jun 7, 2023)
criteria provided, single submitter
65.
GRCh37:
Chr4:55971100
GRCh38:
Chr4:55104933
KDRS566NInborn genetic diseasesUncertain significance
(Jun 11, 2021)
criteria provided, single submitter
66.
GRCh37:
Chr4:55971123
GRCh38:
Chr4:55104956
KDRD558EInborn genetic diseasesUncertain significance
(Dec 15, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr4:55972006
GRCh38:
Chr4:55105839
KDRnot providedBenign
(Jun 6, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr4:55972023
GRCh38:
Chr4:55105856
KDRR541WInborn genetic diseasesUncertain significance
(Apr 25, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr4:55972029
GRCh38:
Chr4:55105862
KDRG539Rnot providedLikely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr4:55972048
GRCh38:
Chr4:55105881
KDRnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr4:55972051
GRCh38:
Chr4:55105884
KDRnot providedLikely benign
(Jun 13, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr4:55972069
GRCh38:
Chr4:55105902
KDRnot providedBenign
(Jul 31, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr4:55972897
GRCh38:
Chr4:55106730
KDRE498Vnot specifiednot provided
(Sep 19, 2013)
no assertion provided
74.
GRCh37:
Chr4:55972946
GRCh38:
Chr4:55106779
KDRC482Rnot specified, Capillary infantile hemangiomaLikely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr4:55972950
GRCh38:
Chr4:55106783
KDRnot providedLikely benign
(Aug 24, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr4:55972974
GRCh38:
Chr4:55106807
KDRQ472Hnot specifiednot provided
(Sep 19, 2013)
no assertion provided
77.
GRCh37:
Chr4:55973932
GRCh38:
Chr4:55107765
KDRL462Vnot providedBenign/Likely benign
(Feb 1, 2023)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr4:55973954
GRCh38:
Chr4:55107787
KDRH454QInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr4:55973990
GRCh38:
Chr4:55107823
KDRnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr4:55974070
GRCh38:
Chr4:55107903
KDRnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
81.
GRCh37:
Chr4:55976609
GRCh38:
Chr4:55110442
KDRK406EInborn genetic diseasesUncertain significance
(Aug 10, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr4:55976633
GRCh38:
Chr4:55110466
KDRV398Inot specifiednot provided
(Sep 19, 2013)
no assertion provided
83.
GRCh37:
Chr4:55976649
GRCh38:
Chr4:55110482
KDRD392EInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
84.
GRCh37:
Chr4:55976674
GRCh38:
Chr4:55110507
KDRT384Mnot providedLikely benign
(Dec 7, 2019)
criteria provided, single submitter
85.
GRCh37:
Chr4:55976688
GRCh38:
Chr4:55110521
KDRnot providedLikely benign
(Dec 31, 2019)
criteria provided, single submitter
86.
GRCh37:
Chr4:55976709
GRCh38:
Chr4:55110542
KDRE372Dnot providedBenign
(Dec 31, 2019)
criteria provided, single submitter
87.
GRCh37:
Chr4:55976739
GRCh38:
Chr4:55110572
KDRnot providedBenign
(Aug 2, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr4:55976857
GRCh38:
Chr4:55110690
KDRA352Vnot providedBenign
(Jul 31, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr4:55976883
GRCh38:
Chr4:55110716
KDRnot providedBenign
(Dec 7, 2018)
criteria provided, single submitter
90.
GRCh37:
Chr4:55979552
GRCh38:
Chr4:55113385
KDRR299Wnot specifiednot provided
(Sep 19, 2013)
no assertion provided
91.
GRCh37:
Chr4:55979558
GRCh38:
Chr4:55113391
KDRV297Inot specifiednot provided
(Sep 19, 2013)
no assertion provided
92.
GRCh37:
Chr4:55979610
GRCh38:
Chr4:55113443
KDRnot providedBenign
(May 26, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr4:55980297
GRCh38:
Chr4:55114130
KDRS265Lnot specifiednot provided
(Sep 19, 2013)
no assertion provided
94.
GRCh37:
Chr4:55980304
GRCh38:
Chr4:55114137
KDRP263Snot specifiednot provided
(Sep 19, 2013)
no assertion provided
95.
GRCh37:
Chr4:55980367
GRCh38:
Chr4:55114200
KDRL242FPremature ovarian failureLikely pathogenic
(Mar 2, 2020)
criteria provided, single submitter
96.
GRCh37:
Chr4:55980375
GRCh38:
Chr4:55114208
KDRG239EInborn genetic diseasesUncertain significance
(Jun 22, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr4:55981151
GRCh38:
Chr4:55114984
KDRK183RInborn genetic diseasesUncertain significance
(Apr 7, 2023)
criteria provided, single submitter
98.
GRCh37:
Chr4:55981531
GRCh38:
Chr4:55115364
KDRV136Mnot providedBenign
(Oct 10, 2018)
criteria provided, single submitter
99.
GRCh37:
Chr4:55984779
GRCh38:
Chr4:55118612
KDRY117CInborn genetic diseasesUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr4:55984825
GRCh38:
Chr4:55118658
KDRK102EInborn genetic diseasesUncertain significance
(Apr 6, 2023)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination