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Items: 93

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:60734-6366659
GRCh38:
Chr20:80093-6386012
ADAM33, ADISSP, ADRA1D, ANGPT4, AP5S1, ATRN, AVP, C20orf141, C20orf202, C20orf96, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, EBF4, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, IDH3B-DT, ITPA, LINC00654, LINC00658, LINC01433, LINC01729, LINC01730, LINC03086, LOC102724545, LOC105372493, LOC106799846, LOC107457602, LOC109504727, LOC110120914, LOC111240478, LOC111240479, LOC111365169, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694731, LOC113939990, LOC113939991, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC643406, LRRN4, LZTS3, MAVS, MCM8, MCM8-AS1, MIR103A2, MIR103B2, MIR1292, MIR6869, MRPS26, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OXT, PANK2, PCED1A, PCNA, PCNA-AS1, PDYN, PDYN-AS1, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBCK1, RNF24, RSPO4, SCRT2, SDCBP2, SDCBP2-AS1, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SMOX, SNORA51, SNORD110, SNORD119, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SOX12, SPEF1, SRXN1, STK35, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF343
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
2.
GRCh37:
Chr20:60747-13010049
GRCh38:
Chr20:80106-13029401
MCM8, MCM8-AS1, MIR103A2, MIR103B2, MIR1292, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PDYN, PDYN-AS1, PLCB1, PLCB1-IT1, PLCB4, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBCK1, RNF24, RNU105B, RSPO4, SCRT2, SDCBP2, SDCBP2-AS1, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF343, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, EBF4, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, IDH3B-DT, ITPA, JAG1, LAMP5, LAMP5-AS1, LINC00654, LINC00658, LINC00687, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC339593, LOC643406, LRRN4, LZTS3, MAVS
See casesPathogenic
(May 7, 2012)
no assertion criteria provided
3.
GRCh37:
Chr20:60747-29462103
GRCh38:
Chr20:80106-30227427
SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF343, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129391160, LOC129391161, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450, LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC130065475, LOC130065476, LOC130065477, LOC130065478, LOC130065479, LOC130065480, LOC130065481, LOC130065482, LOC130065483, LOC130065484, LOC130065485, LOC130065486, LOC130065487, LOC130065488, LOC130065489, LOC130065490, LOC130065491, LOC130065492, LOC130065493, LOC130065494, LOC130065495, LOC130065496, LOC130065497, LOC130065498, LOC130065499, LOC130065500, LOC130065501, LOC130065502, LOC130065503, LOC130065504, LOC130065505, LOC130065506, LOC130065507, LOC130065508, LOC130065509, LOC130065510, LOC130065511, LOC130065512, LOC130065513, LOC130065514, LOC130065515, LOC130065516, LOC130065517, LOC130065518, LOC130065519, LOC130065520, LOC130065521, LOC130065522, LOC130065523, LOC130065524, LOC130065525, LOC130065526, LOC130065527, LOC130065528, LOC130065529, LOC130065530, LOC130065531, LOC130065532, LOC130065533, LOC130065534, LOC130065535, LOC130065536, LOC130065537, LOC130065538, LOC130065539, LOC130065540, LOC130065541, LOC130065542, LOC130065543, LOC130065544, LOC130065545, LOC130065546, LOC130065547, LOC130065548, LOC130065549, LOC130065550, LOC130065551, LOC130065552, LOC130065553, LOC130065554, LOC130065555, LOC130065556, LOC130065557, LOC130065558, LOC130065559, LOC130065560, LOC130065561, LOC130065562, LOC130065563, LOC130065564, LOC130065565, LOC130065566, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC130065589, LOC130065590, LOC130065591, LOC130065592, LOC130065593, LOC130065594, LOC130065595, LOC130065596, LOC130065597, LOC130065598, LOC130065599, LOC130065600, LOC130065601, LOC130065602, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR663A, MIR663AHG, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FAM182A, FAM182B, FAM242B, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, IDH3B-DT, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01733, LINC01747, LINC01751, LINC01752, LINC02871, LINC03083, LINC03086, LNCNEF, LOC100134868, LOC101926889, LOC101926935, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC105372576, LOC105372582, LOC105379477, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
4.
GRCh37:
Chr20:61568-26305479
GRCh38:
Chr20:80927-26324843
LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC130065475, LOC130065476, LOC130065477, LOC130065478, LOC130065479, LOC130065480, LOC130065481, LOC130065482, LOC130065483, LOC130065484, LOC130065485, LOC130065486, LOC130065487, LOC130065488, LOC130065489, LOC130065490, LOC130065491, LOC130065492, LOC130065493, LOC130065494, LOC130065495, LOC130065496, LOC130065497, LOC130065498, LOC130065499, LOC130065500, LOC130065501, LOC130065502, LOC130065503, LOC130065504, LOC130065505, LOC130065506, LOC130065507, LOC130065508, LOC130065509, LOC130065510, LOC130065511, LOC130065512, LOC130065513, LOC130065514, LOC130065515, LOC130065516, LOC130065517, LOC130065518, LOC130065519, LOC130065520, LOC130065521, LOC130065522, LOC130065523, LOC130065524, LOC130065525, LOC130065526, LOC130065527, LOC130065528, LOC130065529, LOC130065530, LOC130065531, LOC130065532, LOC130065533, LOC130065534, LOC130065535, LOC130065536, LOC130065537, LOC130065538, LOC130065539, LOC130065540, LOC130065541, LOC130065542, LOC130065543, LOC130065544, LOC130065545, LOC130065546, LOC130065547, LOC130065548, LOC130065549, LOC130065550, LOC130065551, LOC130065552, LOC130065553, LOC130065554, LOC130065555, LOC130065556, LOC130065557, LOC130065558, LOC130065559, LOC130065560, LOC130065561, LOC130065562, LOC130065563, LOC130065564, LOC130065565, LOC130065566, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC130065589, LOC130065590, LOC130065591, LOC130065592, LOC130065593, LOC130065594, LOC130065595, LOC130065596, LOC130065597, LOC130065598, LOC130065599, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR663A, MIR663AHG, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF343, ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FAM182A, FAM182B, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, IDH3B-DT, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01733, LINC01747, LINC01751, LINC01752, LINC02871, LINC03083, LINC03086, LNCNEF, LOC100134868, LOC101926889, LOC101926935, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC105372576, LOC105372582, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129391160, LOC129391161, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450
See casesPathogenic
(Aug 1, 2014)
no assertion criteria provided
5.
GRCh37:
Chr20:61569-18668675
GRCh38:
Chr20:80928-18688031
ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, GFRA4, GNRH2, GPCPD1, HAO1, VPS16, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343, HSPA12B, IDH3B, IDH3B-DT, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, LAMP5, LAMP5-AS1, LINC00654, LINC00658, LINC00687, LINC00851, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450, LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NDUFAF5, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBBP9, RBCK1, RNF24, RNU105B, RRBP1, RSPO4, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
6.
GRCh37:
Chr20:65043-6139725
GRCh38:
Chr20:84402-6159078
ADAM33, ADISSP, ADRA1D, ANGPT4, AP5S1, ATRN, AVP, C20orf141, C20orf202, C20orf96, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, EBF4, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, GFRA4, GNRH2, GPCPD1, HSPA12B, IDH3B, IDH3B-DT, ITPA, LINC00654, LINC00658, LINC01433, LINC01729, LINC01730, LINC03086, LOC102724545, LOC105372493, LOC106799846, LOC107457602, LOC109504727, LOC110120914, LOC111240478, LOC111240479, LOC111365169, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694731, LOC113939990, LOC113939991, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC643406, LRRN4, LZTS3, MAVS, MCM8, MCM8-AS1, MIR103A2, MIR103B2, MIR1292, MIR6869, MRPS26, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OXT, PANK2, PCED1A, PCNA, PCNA-AS1, PDYN, PDYN-AS1, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBCK1, RNF24, RSPO4, SCRT2, SDCBP2, SDCBP2-AS1, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SMOX, SNORA51, SNORD110, SNORD119, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SOX12, SPEF1, SRXN1, STK35, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF343
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
7.
GRCh38:
Chr20:87153-23635465
ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST11, CST3, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, IDH3B-DT, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01747, LINC01751, LINC01752, LINC02871, LINC03083, LINC03086, LNCNEF, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129391160, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450, LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC130065475, LOC130065476, LOC130065477, LOC130065478, LOC130065479, LOC130065480, LOC130065481, LOC130065482, LOC130065483, LOC130065484, LOC130065485, LOC130065486, LOC130065487, LOC130065488, LOC130065489, LOC130065490, LOC130065491, LOC130065492, LOC130065493, LOC130065494, LOC130065495, LOC130065496, LOC130065497, LOC130065498, LOC130065499, LOC130065500, LOC130065501, LOC130065502, LOC130065503, LOC130065504, LOC130065505, LOC130065506, LOC130065507, LOC130065508, LOC130065509, LOC130065510, LOC130065511, LOC130065512, LOC130065513, LOC130065514, LOC130065515, LOC130065516, LOC130065517, LOC130065518, LOC130065519, LOC130065520, LOC130065521, LOC130065522, LOC130065523, LOC130065524, LOC130065525, LOC130065526, LOC130065527, LOC130065528, LOC130065529, LOC130065530, LOC130065531, LOC130065532, LOC130065533, LOC130065534, LOC130065535, LOC130065536, LOC130065537, LOC130065538, LOC130065539, LOC130065540, LOC130065541, LOC130065542, LOC130065543, LOC130065544, LOC130065545, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC284788, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NAPB, NDUFAF5, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343
Renal agenesisPathogenic
(Aug 24, 2023)
criteria provided, single submitter
8.
GRCh37:
Chr20:70580-19052139
GRCh38:
Chr20:89939-19071495
LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450, LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC130065475, LOC130065476, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NDUFAF5, NOP56, NRSN2, NRSN2-AS1, NSFL1C, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, RAD21L1, RASSF2, RBBP9, RBCK1, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, STK35, TASP1, TBC1D20, TCF15, TGM3, TGM6, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, ZCCHC3, ZNF133, ZNF133-AS1, ZNF343, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CDC25B, CDS2, CENPB, CHGB, CPXM1, CRLS1, CSNK2A1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, GFRA4, GNRH2, GPCPD1, HAO1, HSPA12B, IDH3B, IDH3B-DT, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, LAMP5, LAMP5-AS1, LCDR, LINC00652, LINC00654, LINC00658, LINC00687, LINC00851, LINC01428, LINC01433, LINC01706, LINC01713, LINC01722, LINC01723, LINC01729, LINC01730, LINC01751, LINC01752, LINC02871, LINC03086, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr20:70580-25678200
GRCh38:
Chr20:89939-25697564
ABHD12, ACSS1, ADAM33, ADISSP, ADRA1D, ANGPT4, ANKEF1, AP5S1, APMAP, ATRN, AVP, BANF2, BFSP1, BMP2, BTBD3, BTBD3-AS1, C20orf141, C20orf202, C20orf96, CASC20, CD93, CDC25B, CDS2, CENPB, CFAP61, CFAP61-AS1, CHGB, CPXM1, CRLS1, CRNKL1, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, DDRGK1, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DNAAF9, DSTN, DTD1, DTD1-AS1, DZANK1, EBF4, ENTPD6, ESF1, FAM110A, FASTKD5, FERMT1, FKBP1A, FKBP1A-SDCBP2, FLRT3, FOXA2, GFRA4, GGTLC1, GINS1, GNRH2, GPCPD1, GZF1, HAO1, HSPA12B, IDH3B, IDH3B-DT, INSM1, ISM1, ISM1-AS1, ITPA, JAG1, KAT14, KIF16B, KIZ, KIZ-AS1, LAMP5, LAMP5-AS1, LCDR, LINC00237, LINC00261, LINC00652, LINC00654, LINC00656, LINC00658, LINC00687, LINC00851, LINC01427, LINC01428, LINC01431, LINC01432, LINC01433, LINC01706, LINC01713, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01729, LINC01730, LINC01747, LINC01751, LINC01752, LINC02871, LINC03083, LINC03086, LNCNEF, LOC101926889, LOC101929413, LOC102606466, LOC102724545, LOC105372493, LOC105372524, LOC105372576, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694712, LOC112694713, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC114004355, LOC114827862, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC125384555, LOC125384556, LOC125384557, LOC125384558, LOC125384559, LOC125384560, LOC125384561, LOC125384562, LOC125384563, LOC125384564, LOC125384565, LOC125384566, LOC125384567, LOC125384568, LOC125384569, LOC125384570, LOC125384571, LOC125384572, LOC125384573, LOC125384574, LOC125384575, LOC125384576, LOC125384577, LOC125384578, LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC126862948, LOC126862949, LOC126862950, LOC126862951, LOC126862952, LOC126862953, LOC126862954, LOC126862955, LOC126862956, LOC126862957, LOC126862958, LOC126862959, LOC126862960, LOC126862961, LOC126862962, LOC126862963, LOC126862964, LOC126862965, LOC126862966, LOC126862967, LOC126862968, LOC126862969, LOC126862970, LOC126862971, LOC126862972, LOC126862973, LOC126862974, LOC126862975, LOC126862976, LOC126862977, LOC126862978, LOC126862979, LOC126862980, LOC126862981, LOC126862982, LOC126862983, LOC126862984, LOC126862985, LOC126862986, LOC126862987, LOC126862988, LOC126862989, LOC126862990, LOC126862991, LOC126862992, LOC126862993, LOC126862994, LOC126862995, LOC126862996, LOC126862997, LOC126862998, LOC126862999, LOC126863000, LOC126863001, LOC126863002, LOC126863003, LOC126863004, LOC126863005, LOC126863006, LOC126863007, LOC126863008, LOC126863009, LOC128706665, LOC128706666, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129391160, LOC129391161, LOC129456123, LOC130065248, LOC130065249, LOC130065250, LOC130065251, LOC130065252, LOC130065253, LOC130065254, LOC130065255, LOC130065256, LOC130065257, LOC130065258, LOC130065259, LOC130065260, LOC130065261, LOC130065262, LOC130065263, LOC130065264, LOC130065265, LOC130065266, LOC130065267, LOC130065268, LOC130065269, LOC130065270, LOC130065271, LOC130065272, LOC130065273, LOC130065274, LOC130065275, LOC130065276, LOC130065277, LOC130065278, LOC130065279, LOC130065280, LOC130065281, LOC130065282, LOC130065283, LOC130065284, LOC130065285, LOC130065286, LOC130065287, LOC130065288, LOC130065289, LOC130065290, LOC130065291, LOC130065292, LOC130065293, LOC130065294, LOC130065295, LOC130065296, LOC130065297, LOC130065298, LOC130065299, LOC130065300, LOC130065301, LOC130065302, LOC130065303, LOC130065304, LOC130065305, LOC130065306, LOC130065307, LOC130065308, LOC130065309, LOC130065310, LOC130065311, LOC130065312, LOC130065313, LOC130065314, LOC130065315, LOC130065316, LOC130065317, LOC130065318, LOC130065319, LOC130065320, LOC130065321, LOC130065322, LOC130065323, LOC130065324, LOC130065325, LOC130065326, LOC130065327, LOC130065328, LOC130065329, LOC130065330, LOC130065331, LOC130065332, LOC130065333, LOC130065334, LOC130065335, LOC130065336, LOC130065337, LOC130065338, LOC130065339, LOC130065340, LOC130065341, LOC130065342, LOC130065343, LOC130065344, LOC130065345, LOC130065346, LOC130065347, LOC130065348, LOC130065349, LOC130065350, LOC130065351, LOC130065352, LOC130065353, LOC130065354, LOC130065355, LOC130065356, LOC130065357, LOC130065358, LOC130065359, LOC130065360, LOC130065361, LOC130065362, LOC130065363, LOC130065364, LOC130065365, LOC130065366, LOC130065367, LOC130065368, LOC130065369, LOC130065370, LOC130065371, LOC130065372, LOC130065373, LOC130065374, LOC130065375, LOC130065376, LOC130065377, LOC130065378, LOC130065379, LOC130065380, LOC130065381, LOC130065382, LOC130065383, LOC130065384, LOC130065385, LOC130065386, LOC130065387, LOC130065388, LOC130065389, LOC130065390, LOC130065391, LOC130065392, LOC130065393, LOC130065394, LOC130065395, LOC130065396, LOC130065397, LOC130065398, LOC130065399, LOC130065400, LOC130065401, LOC130065402, LOC130065403, LOC130065404, LOC130065405, LOC130065406, LOC130065407, LOC130065408, LOC130065409, LOC130065410, LOC130065411, LOC130065412, LOC130065413, LOC130065414, LOC130065415, LOC130065416, LOC130065417, LOC130065418, LOC130065419, LOC130065420, LOC130065421, LOC130065422, LOC130065423, LOC130065424, LOC130065425, LOC130065426, LOC130065427, LOC130065428, LOC130065429, LOC130065430, LOC130065431, LOC130065432, LOC130065433, LOC130065434, LOC130065435, LOC130065436, LOC130065437, LOC130065438, LOC130065439, LOC130065440, LOC130065441, LOC130065442, LOC130065443, LOC130065444, LOC130065445, LOC130065446, LOC130065447, LOC130065448, LOC130065449, LOC130065450, LOC130065451, LOC130065452, LOC130065453, LOC130065454, LOC130065455, LOC130065456, LOC130065457, LOC130065458, LOC130065459, LOC130065460, LOC130065461, LOC130065462, LOC130065463, LOC130065464, LOC130065465, LOC130065466, LOC130065467, LOC130065468, LOC130065469, LOC130065470, LOC130065471, LOC130065472, LOC130065473, LOC130065474, LOC130065475, LOC130065476, LOC130065477, LOC130065478, LOC130065479, LOC130065480, LOC130065481, LOC130065482, LOC130065483, LOC130065484, LOC130065485, LOC130065486, LOC130065487, LOC130065488, LOC130065489, LOC130065490, LOC130065491, LOC130065492, LOC130065493, LOC130065494, LOC130065495, LOC130065496, LOC130065497, LOC130065498, LOC130065499, LOC130065500, LOC130065501, LOC130065502, LOC130065503, LOC130065504, LOC130065505, LOC130065506, LOC130065507, LOC130065508, LOC130065509, LOC130065510, LOC130065511, LOC130065512, LOC130065513, LOC130065514, LOC130065515, LOC130065516, LOC130065517, LOC130065518, LOC130065519, LOC130065520, LOC130065521, LOC130065522, LOC130065523, LOC130065524, LOC130065525, LOC130065526, LOC130065527, LOC130065528, LOC130065529, LOC130065530, LOC130065531, LOC130065532, LOC130065533, LOC130065534, LOC130065535, LOC130065536, LOC130065537, LOC130065538, LOC130065539, LOC130065540, LOC130065541, LOC130065542, LOC130065543, LOC130065544, LOC130065545, LOC130065546, LOC130065547, LOC130065548, LOC130065549, LOC130065550, LOC130065551, LOC130065552, LOC130065553, LOC130065554, LOC130065555, LOC130065556, LOC130065557, LOC130065558, LOC130065559, LOC130065560, LOC130065561, LOC130065562, LOC130065563, LOC130065564, LOC130065565, LOC130065566, LOC130065567, LOC130065568, LOC130065569, LOC130065570, LOC130065571, LOC130065572, LOC130065573, LOC130065574, LOC130065575, LOC130065576, LOC130065577, LOC130065578, LOC130065579, LOC130065580, LOC130065581, LOC130065582, LOC130065583, LOC130065584, LOC130065585, LOC130065586, LOC130065587, LOC130065588, LOC130065589, LOC130065590, LOC130065591, LOC130065592, LOC130065593, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090574, LOC132090575, LOC132090576, LOC132090910, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LRRN4, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAVS, MCM8, MCM8-AS1, MGME1, MIR103A2, MIR103B2, MIR1292, MIR3192, MIR6869, MIR6870, MIR8062, MKKS, MRPS26, NAA20, NANP, NAPB, NDUFAF5, NINL, NKX2-2, NKX2-4, NOP56, NRSN2, NRSN2-AS1, NSFL1C, NXT1, OTOR, OVOL2, OXT, PAK5, PANK2, PARAL1, PAX1, PCED1A, PCNA, PCNA-AS1, PCSK2, PDYN, PDYN-AS1, PET117, PLCB1, PLCB1-IT1, PLCB4, POLR3F, PRND, PRNP, PRNT, PROKR2, PSMF1, PTPRA, PYGB, RAD21L1, RALGAPA2, RASSF2, RBBP9, RBCK1, RIN2, RNF24, RNU105B, RRBP1, RSPO4, SCP2D1, SCP2D1-AS1, SCRT2, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLC23A2, SLC24A3, SLC24A3-AS1, SLC4A11, SLC52A3, SLX4IP, SMIM26, SMOX, SNAP25, SNAP25-AS1, SNORA51, SNORD110, SNORD119, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNX5, SOX12, SPEF1, SPTLC3, SRXN1, SSTR4, STK35, SYNDIG1, TASP1, TBC1D20, TCF15, TGM3, TGM6, THBD, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TRIB3, TRMT6, UBOX5, UBOX5-AS1, VPS16, VSX1, XRN2, ZCCHC3, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF343
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr20:70580-19126923
GRCh38:
Chr20:89939-19146279