| - 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 disorder | Pathogenic (Aug 24, 2023) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:52736191-55968559
- GRCh38:
- Chr4:51870025-55102392
| CHIC2, DANCR, DCUN1D4, ERVMER34-1, FIP1L1, GSX2, KDR, KIT, LINC01618, LINC02260, LINC02283, LINC02480, LNX1, LNX1-AS1, LNX1-AS2, LOC100506444, LOC110120742, LOC110120745, LOC110121111, LOC110121183, LOC114004386, LOC116158487, LOC116158488, LOC123477742, LOC123477743, LOC123477744, LOC126807053, LOC126807054, LOC126807055, 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, LRRC66, MIR4449, PDGFRA, RASL11B, SCFD2, SGCB, SNORA26, SPATA18, USP46, USP46-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 albinism | Pathogenic | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - 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 cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55064768-63135833
- GRCh38:
- Chr4:54198601-62270115
| AASDH, ADGRL3, ADGRL3-AS1, ARL9, CEP135, CLOCK, CRACD, EXOC1, EXOC1L, HOPX, IGFBP7, IGFBP7-AS1, KDR, KIT, LINC02260, LINC02271, LINC02283, LINC02380, LINC02429, LINC02494, LINC02496, LINC02619, LOC105377672, LOC110121177, LOC116158487, LOC116158488, LOC116158489, LOC116158490, LOC116158491, LOC116158492, LOC116158493, LOC121053179, LOC121053180, LOC121053181, LOC121053182, LOC121725171, LOC123477743, LOC123477744, LOC123477745, LOC123477746, LOC123477747, LOC123477748, LOC123477749, LOC126807054, LOC126807055, LOC126807056, LOC126807057, LOC126807058, LOC126807059, LOC126807060, LOC126807061, LOC126807062, LOC126807063, LOC126807064, 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, MIR548AG1, NMU, NOA1, PAICS, PDCL2, PDGFRA, POLR2B, PPAT, REST, SPINK2, SPMAP2L, SRD5A3, SRD5A3-AS1, SRP72, TMEM165 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55946169
- GRCh38:
- Chr4:55080002
| KDR | G1337D | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55946291
- GRCh38:
- Chr4:55080124
| KDR | | not provided | Likely benign (Nov 10, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55946307
- GRCh38:
- Chr4:55080140
| KDR | R1291M | not provided | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55948108
- GRCh38:
- Chr4:55081941
| KDR | | not specified, Capillary infantile hemangioma | Benign | no assertion criteria provided |
| - GRCh37:
- Chr4:55948154
- GRCh38:
- Chr4:55081987
| KDR | E1273Q | Inborn genetic diseases | Uncertain significance (Jun 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55948163
- GRCh38:
- Chr4:55081996
| KDR | K1270Q | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55948181
- GRCh38:
- Chr4:55082014
| KDR | L1264F | Inborn genetic diseases | Uncertain significance (Jan 26, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55948198
- GRCh38:
- Chr4:55082031
| KDR | T1258M | Teratoma | Uncertain significance (Jan 1, 2023) | no assertion criteria provided |
| - GRCh37:
- Chr4:55948779
- GRCh38:
- Chr4:55082612
| KDR | R1229Q | Inborn genetic diseases | Uncertain significance (Dec 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55955049
- GRCh38:
- Chr4:55088882
| KDR | A1166T | Inborn genetic diseases | Uncertain significance (Sep 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55955058
- GRCh38:
- Chr4:55088891
| KDR | L1163F | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955070
- GRCh38:
- Chr4:55088903
| KDR | H1159Y | Inborn genetic diseases | Uncertain significance (Apr 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55955080
- GRCh38:
- Chr4:55088913
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955100
- GRCh38:
- Chr4:55088933
| KDR | Q1149E | not provided | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:55955104
- GRCh38:
- Chr4:55088937
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955106
- GRCh38:
- Chr4:55088939
| KDR | P1147S | Capillary infantile hemangioma | Pathogenic (Mar 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr4:55955144
- GRCh38:
- Chr4:55088977
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55956183
- GRCh38:
- Chr4:55090016
| KDR | | not provided | Benign (Nov 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55956225
- GRCh38:
- Chr4:55090058
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55958847
- GRCh38:
- Chr4:55092680
| KDR | L1002F | Capillary infantile hemangioma | Uncertain significance (Feb 1, 2022) | no assertion criteria provided |
| - GRCh37:
- Chr4:55960966
- GRCh38:
- Chr4:55094799
| KDR | | not provided | Uncertain significance (Jun 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55961818
- GRCh38:
- Chr4:55095651
| KDR | I915V | not provided | Likely benign (Jul 30, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55962403
- GRCh38:
- Chr4:55096236
| KDR | K907N | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962419
- GRCh38:
- Chr4:55096252
| KDR | L902Q | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962448
- GRCh38:
- Chr4:55096281
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962450
- GRCh38:
- Chr4:55096283
| KDR | I892V | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55962468
- GRCh38:
- Chr4:55096301
| KDR | L886I | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55962532
- GRCh38:
- Chr4:55096365
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55963845
- GRCh38:
- Chr4:55097678
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55963887
- GRCh38:
- Chr4:55097720
| KDR | | not provided | Likely benign (Aug 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55963894
- GRCh38:
- Chr4:55097727
| KDR | E850A | Inborn genetic diseases | Uncertain significance (Dec 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55963899
- GRCh38:
- Chr4:55097732
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55963918
- GRCh38:
- Chr4:55097751
| KDR | R842H | not provided | Likely benign (Dec 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55963960
- GRCh38:
- Chr4:55097793
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55964284
- GRCh38:
- Chr4:55098117
| KDR | | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55964433
- GRCh38:
- Chr4:55098266
| KDR | G794R | Carcinoma of colon | Uncertain significance (Jan 24, 2015) | no assertion criteria provided |
| - GRCh37:
- Chr4:55964439
- GRCh38:
- Chr4:55098272
| KDR | A792T | Inborn genetic diseases | Uncertain significance (Jul 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55964877
- GRCh38:
- Chr4:55098710
| KDR | R787Q | Malignant tumor of prostate | Uncertain significance | no assertion criteria provided |
| - GRCh37:
- Chr4:55964925
- GRCh38:
- Chr4:55098758
| KDR | T771M | not provided | Likely benign (Oct 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55964932
- GRCh38:
- Chr4:55098765
| KDR | V769I | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55964967
- GRCh38:
- Chr4:55098800
| KDR | A757G | Inborn genetic diseases | Uncertain significance (Jun 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968063
- GRCh38:
- Chr4:55101896
| KDR | | not provided | Uncertain significance (Mar 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968072
- GRCh38:
- Chr4:55101905
| KDR | I753K | Inborn genetic diseases | Uncertain significance (May 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968087
- GRCh38:
- Chr4:55101920
| KDR | V748G | Inborn genetic diseases | Uncertain significance (Jun 30, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968148
- GRCh38:
- Chr4:55101981
| KDR | R728G | Inborn genetic diseases | Uncertain significance (May 31, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968585
- GRCh38:
- Chr4:55102418
| KDR | N693T | Inborn genetic diseases | Uncertain significance (Jun 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968597
- GRCh38:
- Chr4:55102430
| KDR | T689M | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968641
- GRCh38:
- Chr4:55102474
| KDR | E674D | not provided | Likely benign (Jan 3, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55968651
- GRCh38:
- Chr4:55102484
| KDR | G671E | Inborn genetic diseases, not provided | Conflicting interpretations of pathogenicity (Mar 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr4:55970782
- GRCh38:
- Chr4:55104615
| KDR | | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55970819
- GRCh38:
- Chr4:55104652
| KDR | T660A | Inborn genetic diseases | Uncertain significance (Nov 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55970867
- GRCh38:
- Chr4:55104700
| KDR | A644T | Inborn genetic diseases | Uncertain significance (Nov 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55970963
- GRCh38:
- Chr4:55104796
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55971029
- GRCh38:
- Chr4:55104862
| KDR | P590S | not provided | Likely benign (Jul 1, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55971052
- GRCh38:
- Chr4:55104885
| KDR | T582R | Inborn genetic diseases | Uncertain significance (Jun 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55971100
- GRCh38:
- Chr4:55104933
| KDR | S566N | Inborn genetic diseases | Uncertain significance (Jun 11, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55971123
- GRCh38:
- Chr4:55104956
| KDR | D558E | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972006
- GRCh38:
- Chr4:55105839
| KDR | | not provided | Benign (Jun 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972023
- GRCh38:
- Chr4:55105856
| KDR | R541W | Inborn genetic diseases | Uncertain significance (Apr 25, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972029
- GRCh38:
- Chr4:55105862
| KDR | G539R | not provided | Likely benign (Jan 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55972048
- GRCh38:
- Chr4:55105881
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972051
- GRCh38:
- Chr4:55105884
| KDR | | not provided | Likely benign (Jun 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972069
- GRCh38:
- Chr4:55105902
| KDR | | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972897
- GRCh38:
- Chr4:55106730
| KDR | E498V | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55972946
- GRCh38:
- Chr4:55106779
| KDR | C482R | not specified, Capillary infantile hemangioma | Likely benign (Jul 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55972950
- GRCh38:
- Chr4:55106783
| KDR | | not provided | Likely benign (Aug 24, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55972974
- GRCh38:
- Chr4:55106807
| KDR | Q472H | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55973932
- GRCh38:
- Chr4:55107765
| KDR | L462V | not provided | Benign/Likely benign (Feb 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr4:55973954
- GRCh38:
- Chr4:55107787
| KDR | H454Q | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55973990
- GRCh38:
- Chr4:55107823
| KDR | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55974070
- GRCh38:
- Chr4:55107903
| KDR | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976609
- GRCh38:
- Chr4:55110442
| KDR | K406E | Inborn genetic diseases | Uncertain significance (Aug 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976633
- GRCh38:
- Chr4:55110466
| KDR | V398I | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55976649
- GRCh38:
- Chr4:55110482
| KDR | D392E | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976674
- GRCh38:
- Chr4:55110507
| KDR | T384M | not provided | Likely benign (Dec 7, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976688
- GRCh38:
- Chr4:55110521
| KDR | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976709
- GRCh38:
- Chr4:55110542
| KDR | E372D | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976739
- GRCh38:
- Chr4:55110572
| KDR | | not provided | Benign (Aug 2, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976857
- GRCh38:
- Chr4:55110690
| KDR | A352V | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55976883
- GRCh38:
- Chr4:55110716
| KDR | | not provided | Benign (Dec 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55979552
- GRCh38:
- Chr4:55113385
| KDR | R299W | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55979558
- GRCh38:
- Chr4:55113391
| KDR | V297I | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55979610
- GRCh38:
- Chr4:55113443
| KDR | | not provided | Benign (May 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55980297
- GRCh38:
- Chr4:55114130
| KDR | S265L | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55980304
- GRCh38:
- Chr4:55114137
| KDR | P263S | not specified | not provided (Sep 19, 2013) | no assertion provided |
| - GRCh37:
- Chr4:55980367
- GRCh38:
- Chr4:55114200
| KDR | L242F | Premature ovarian failure | Likely pathogenic (Mar 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55980375
- GRCh38:
- Chr4:55114208
| KDR | G239E | Inborn genetic diseases | Uncertain significance (Jun 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55981151
- GRCh38:
- Chr4:55114984
| KDR | K183R | Inborn genetic diseases | Uncertain significance (Apr 7, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55981531
- GRCh38:
- Chr4:55115364
| KDR | V136M | not provided | Benign (Oct 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55984779
- GRCh38:
- Chr4:55118612
| KDR | Y117C | Inborn genetic diseases | Uncertain significance (Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:55984825
- GRCh38:
- Chr4:55118658
| KDR | K102E | Inborn genetic diseases | Uncertain significance (Apr 6, 2023) | criteria provided, single submitter |