| - GRCh37:
- Chr20:80198-62908674
- GRCh38:
- Chr20:99557-64277321
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LOC125384579, LOC125384580, LOC125384581, LOC125384582, LOC125384583, LOC125384584, LOC125384585, LOC125384586, LOC125384587, LOC125384588, LOC125384589, LOC125384590, LOC125384592, LOC125384593, LOC125384594, LOC125387241, LOC125387242, LOC125387243, LOC125387244, LOC125387245, LOC125387246, LOC125387247, LOC125387248, LOC125387249, LOC125387253, LOC125387254, LOC125387257, LOC125387258, LOC125387260, LOC125387261, LOC125387262, LOC125387263, LOC125387264, LOC125387265, LOC125387267, LOC125387268, LOC125387269, LOC125387271, LOC125387272, LOC125387273, LOC125387274, LOC125387275, LOC125387276, LOC125387277, LOC125387278, LOC125387279, LOC125387280, LOC125387281, LOC125387282, LOC125387283, LOC125387284, LOC125387285, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, 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, LOC126863010, LOC126863011, LOC126863012, LOC126863013, LOC126863014, LOC126863015, LOC126863016, LOC126863017, LOC126863018, LOC126863019, LOC126863020, LOC126863021, LOC126863022, LOC126863023, LOC126863024, LOC126863025, LOC126863026, LOC126863027, LOC126863028, LOC126863029, LOC126863030, LOC126863031, LOC126863032, LOC126863033, LOC126863034, LOC126863035, LOC126863036, LOC126863037, LOC126863038, LOC126863039, LOC126863040, LOC126863041, LOC126863042, LOC126863043, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC127893450, LOC128706665, LOC128706666, LOC128772425, LOC128772426, LOC129391147, LOC129391148, LOC129391149, LOC129391150, LOC129391151, LOC129391152, LOC129391153, LOC129391154, LOC129391155, LOC129391156, LOC129391157, LOC129391158, LOC129391159, LOC129391160, LOC129391161, LOC129391162, LOC129391163, LOC129391164, LOC129391165, LOC129391166, LOC129391167, LOC129391168, LOC129391169, LOC129391170, LOC129391171, LOC129391172, LOC129391173, LOC129391174, LOC129391175, LOC129391176, LOC129391177, LOC129391178, LOC129391179, LOC129391180, LOC129391181, LOC129391182, LOC129391183, LOC129391184, LOC129391185, LOC129391186, AAR2, ABALON, ABHD12, ABHD16B, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADAM33, ADIG, ADISSP, ADNP, ADNP-AS1, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, ANKRD60, AP5S1, APCDD1L, APCDD1L-DT, APMAP, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASIP, ASXL1, ATP5F1E, ATP9A, ATRN, AURKA, AVP, B4GALT5, BANF2, BCAS1, BCAS4, BCL2L1, BCL2L1-AS1, BFSP1, BHLHE23, BIRC7, BLCAP, BMP2, BMP7, BMP7-AS1, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, BTBD3-AS1, C20orf141, C20orf144, C20orf173, C20orf181, C20orf202, C20orf203, C20orf204, C20orf96, CABLES2, CASC20, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CEBPB-AS1, CENPB, CEP250, CEP250-AS1, CFAP61, CFAP61-AS1, CHD6, CHGB, CHMP4B, CHRNA4, CIMIP1, CNBD2, COL20A1, COL9A3, COMMD7, COX4I2, CPNE1, CPXM1, CRLS1, CRMA, CRNKL1, CSE1L, CSE1L-DT, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTF1, CSTL1, CTCFL, CTNNBL1, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DLGAP4, DLGAP4-AS1, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DTD1-AS1, DUSP15, DYNLRB1, DZANK1, E2F1, EBF4, EDEM2, EDN3, EEF1A2, EFCAB8, EIF2S2, EIF6, ELMO2, EMILIN3, ENTPD6, EPB41L1, EPB41L1-AS1, EPPIN, EPPIN-WFDC6, ERGIC3, ESF1, EYA2, EYA2-AS1, FAM110A, FAM182A, FAM182B, FAM209A, FAM209B, FAM210B, FAM217B, FAM242A, FAM242B, FAM83C, FAM83C-AS1, FAM83D, FASTKD5, FERMT1, FITM2, FKBP1A, FKBP1A-SDCBP2, FLJ16779, FLRT3, FNDC11, FOXA2, FOXS1, GATA5, GCNT7, GDAP1L1, GDF5, GDF5-AS1, GFRA4, GGT7, GGTLC1, GHRH, GID8, GINS1, GMEB2, GNAS, GNAS-AS1, GNRH2, GPCPD1, GSS, GTSF1L, GZF1, HAO1, HAR1A, HAR1B, HCK, HELZ2, HM13, HM13-AS1, HNF4A, HNF4A-AS1, HRH3, HSPA12B, ID1, IDH3B, IDH3B-DT, IFT52, INSM1, ISM1, ISM1-AS1, ITCH, ITPA, JAG1, JPH2, KAT14, KCNB1, KCNG1, KCNK15, KCNK15-AS1, KCNQ2, KCNQ2-AS1, KCNS1, KIAA1755, KIF16B, KIF3B, KIZ, KIZ-AS1, L3MBTL1, LAMA5, LAMA5-AS1, LAMP5, LAMP5-AS1, LBP, LCDR, LIME1, LINC00028, LINC00029, LINC00237, LINC00261, LINC00489, LINC00494, LINC00652, LINC00654, LINC00656, LINC00658, LINC00659, LINC00687, LINC00851, LINC01056, LINC01260, LINC01270, LINC01271, LINC01273, LINC01275, LINC01370, LINC01427, LINC01428, LINC01429, LINC01430, LINC01431, LINC01432, LINC01433, LINC01440, LINC01441, LINC01522, LINC01523, LINC01524, LINC01597, LINC01620, LINC01706, LINC01711, LINC01713, LINC01716, LINC01718, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090561, LOC132090562, LOC132090563, LOC132090564, LOC132090565, LOC132090566, LOC132090567, LOC132090568, LOC132090569, LOC132090570, LOC132090571, LOC132090572, LOC132090573, LOC132090574, LOC132090575, LOC132090576, LOC132090577, LOC132090578, LOC132090579, LOC132090580, LOC132090581, LOC132090582, LOC132090583, LOC132090584, LOC132090585, LOC132090586, LOC132090587, LOC132090588, LOC132090589, LOC132090590, LOC132090591, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090910, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC149684, LOC284788, LOC284798, LOC339593, LOC613266, LOC643406, LOC729296, LPIN3, LRRN4, LSM14B, LZTS3, MACROD2, MACROD2-AS1, MACROD2-IT1, MAFB, MANBAL, MAP1LC3A, MAPRE1, MATN4, MAVS, MC3R, MCM8, MCM8-AS1, MCTS2, MGME1, MHENCR, MIR1-1, MIR1-1HG, MIR103A2, MIR103B2, MIR12122, MIR124-3, MIR1257, MIR1289-1, MIR1292, MIR1302-5, MIR133A2, MIR1825, MIR1914, MIR296, MIR298, MIR3192, MIR3193, MIR3194, MIR3195, MIR3196, MIR3616, MIR3617, MIR3646, MIR4325, MIR4326, MIR4533, MIR4755, MIR4756, MIR4758, MIR499A, MIR499B, MIR548AG2, MIR548O2, MIR644A, MIR645, MIR646, MIR646HG, MIR647, MIR663A, MIR663AHG, MIR6812, MIR6813, MIR6869, MIR6870, MIR6871, MIR8062, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MKKS, MMP24, MMP24-AS1-EDEM2, MMP24OS, MMP9, MOCS3, MRGBP, MROH8, MRPS26, MTCL2, MTG2, MTRNR2L3, MYBL2, MYH7B, MYL9, MYLK2, MYT1, NAA20, NANP, NAPB, NCOA3, NCOA5, NCOA6, NDRG3, NDUFAF5, NECAB3, NELFCD, NEURL2, NFATC2, NFS1, NINL, NKAIN4, NKILA, NKX2-2, NKX2-4, NNAT, NOL4L, NOL4L-DT, NOP56, NORAD, NPBWR2, NPEPL1, NRSN2, NRSN2-AS1, NSFL1C, NTSR1, NXT1, OCSTAMP, OGFR, OGFR-AS1, OPRL1, OSBPL2, OSER1, OSER1-DT, OTOR, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARAL1, PARD6B, PAX1, PCED1A, PCIF1, PCK1, PCMTD2, PCNA, PCNA-AS1, PCSK2, PDRG1, PDYN, PDYN-AS1, PEDS1, PEDS1-UBE2V1, PELATON, PET117, PFDN4, PHACTR3, PHACTR3-AS1, PHF20, PI3, PIGT, PIGU, PKIG, PLAGL2, PLCB1, PLCB1-IT1, PLCB4, PLCG1, PLCG1-AS1, PLTP, PMEPA1, POFUT1, POLR3F, PPDPF, PPP1R16B, PPP1R3D, PRELID3B, PREX1, PRND, PRNP, PRNT, PROCR, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTK6, PTPN1, PTPRA, PTPRT, PTPRT-AS1, PTPRT-DT, PXMP4, PYGB, R3HDML, R3HDML-AS1, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RALGAPB, RALY, RALY-AS1, RASSF2, RBBP8NL, RBBP9, RBCK1, RBL1, RBM12, RBM38, RBM38-AS1, RBM39, RBPJL, REM1, RGS19, RIMS4, RIN2, RIPOR3, RIPOR3-AS1, RNF114, RNF24, RNU105B, ROMO1, RPN2, RPRD1B, RPS21, RPS21-DT, RRBP1, RSPO4, RTEL1, RTEL1-TNFRSF6B, RTF2, SALL4, SAMD10, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SCRT2, SDC4, SDCBP2, SDCBP2-AS1, SEC23B, SEL1L2, SEMG1, SEMG2, SERINC3, SGK2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SIRPG-AS1, SLA2, SLC12A5, SLC12A5-AS1, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC24A3-AS1, SLC2A10, SLC2A4RG, SLC32A1, SLC35C2, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SLPI, SLX4IP, SMIM26, SMOX, SNAI1, SNAP25, SNAP25-AS1, SNHG11, SNHG17, SNORA117, SNORA51, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D, SNORA71E, SNORD110, SNORD119, SNORD12, SNORD12B, SNORD12C, SNORD154, SNORD17, SNORD56, SNORD57, SNORD86, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOX12, SOX18, SPAG4, SPATA2, SPATA25, SPEF1, SPINT3, SPINT4, SPO11, SPTLC3, SRC, SRMS, SRSF6, SRXN1, SS18L1, SSTR4, STAU1, STK35, STK4, STK4-DT, STMN3, STX16, STX16-NPEPL1, SULF2, SUN5, SYCP2, SYNDIG1, SYS1, SYS1-DBNDD2, TAF4, TASP1, TBC1D20, TCEA2, TCF15, TCFL5, TFAP2C, TGIF2, TGIF2-RAB5IF, TGM2, TGM3, TGM6, THBD, TLDC2, TM9SF4, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TMX4-AS1, TNFRSF6B, TNNC2, TOMM34, TOP1, TOX2, TP53INP2, TP53RK, TP53RK-DT, TP53TG5, TPD52L2, TPX2, TRERNA1, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, TTLL9, TTPAL, TUBB1, UBE2C, UBE2V1, UBOX5, UBOX5-AS1, UCKL1, UCKL1-AS1, UQCC1, VAPB, VPS16, VSTM2L, VSX1, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, XKR7, XRN2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZCCHC3, ZFAS1, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF133-AS1, ZNF217, ZNF217-AS1, ZNF334, ZNF335, ZNF337, ZNF337-AS1, ZNF341, ZNF341-AS1, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 | | See cases | Pathogenic (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:43416345-62908674
- GRCh38:
- Chr20:44787704-64277321
| LOC125387319, LOC125387320, LOC126863037, LOC126863038, LOC126863039, LOC126863040, LOC126863041, LOC126863042, LOC126863043, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC126863074, LOC126863075, LOC126863076, LOC126863077, LOC126863078, LOC126863079, LOC126863080, LOC126863081, LOC126863082, LOC126863083, LOC126863084, LOC126863085, LOC126863086, LOC126863087, LOC126863088, LOC126863089, LOC126863090, LOC126863091, LOC126863092, LOC127893450, LOC128772425, LOC128772426, LOC129391180, LOC129391181, LOC129391182, LOC129391183, LOC129391184, LOC129391185, LOC129391186, LOC129391187, LOC129391188, LOC129391189, LOC129391190, LOC129391191, LOC129391192, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129391200, LOC129391201, LOC129391202, LOC129391203, LOC129391204, LOC129391205, LOC129391206, LOC129391207, LOC129391208, LOC129391209, LOC129391210, LOC129391211, LOC129391212, LOC129391213, LOC129456124, LOC130065944, LOC130065945, LOC130065946, LOC130065947, LOC130065948, LOC130065949, LOC130065950, LOC130065951, LOC130065952, LOC130065953, LOC130065954, LOC130065955, LOC130065956, LOC130065957, LOC130065958, LOC130065959, LOC130065960, LOC130065961, LOC130065962, LOC130065963, LOC130065964, LOC130065965, LOC130065966, LOC130065967, LOC130065968, LOC130065969, LOC130065970, LOC130065971, LOC130065972, LOC130065973, LOC130065974, LOC130065975, LOC130065976, LOC130065977, LOC130065978, LOC130065979, LOC130065980, LOC130065981, LOC130065982, LOC130065983, LOC130065984, LOC130065985, LOC130065986, LOC130065987, LOC130065988, LOC130065989, LOC130065990, LOC130065991, LOC130065992, LOC130065993, LOC130065994, LOC130065995, LOC130065996, LOC130065997, LOC130065998, LOC130065999, LOC130066000, LOC130066001, LOC130066002, LOC130066003, LOC130066004, LOC130066005, LOC130066006, LOC130066007, LOC130066008, LOC130066009, LOC130066010, LOC130066011, LOC130066012, LOC130066013, LOC130066014, LOC130066015, LOC130066016, LOC130066017, LOC130066018, LOC130066019, LOC130066020, LOC130066021, LOC130066022, LOC130066023, LOC130066024, LOC130066025, LOC130066026, LOC130066027, LOC130066028, LOC130066029, LOC130066030, LOC130066031, LOC130066032, LOC130066033, LOC130066034, LOC130066035, LOC130066036, LOC130066037, LOC130066038, LOC130066039, LOC130066040, LOC130066041, LOC130066042, LOC130066043, LOC130066044, LOC130066045, LOC130066046, LOC130066047, LOC130066048, LOC130066049, LOC130066050, LOC130066051, LOC130066052, LOC130066053, LOC130066054, LOC130066055, LOC130066056, LOC130066057, LOC130066058, LOC130066059, LOC130066060, LOC130066061, LOC130066062, LOC130066063, LOC130066064, LOC130066065, LOC130066066, LOC130066067, LOC130066068, LOC130066069, LOC130066070, LOC130066071, LOC130066072, LOC130066073, LOC130066074, LOC130066075, LOC130066076, LOC130066077, LOC130066078, LOC130066079, LOC130066080, LOC130066081, LOC130066082, LOC130066083, LOC130066084, LOC130066085, LOC130066086, LOC130066087, LOC130066088, LOC130066089, LOC130066090, LOC130066091, LOC130066092, LOC130066093, LOC130066094, LOC130066095, LOC130066096, LOC130066097, LOC130066098, LOC130066099, LOC130066100, LOC130066101, LOC130066102, LOC130066103, LOC130066104, LOC130066105, LOC130066106, LOC130066107, LOC130066108, LOC130066109, LOC130066110, LOC130066111, LOC130066112, LOC130066113, LOC130066114, LOC130066115, LOC130066116, LOC130066117, LOC130066118, LOC130066119, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, LOC130066173, LOC130066174, LOC130066175, LOC130066176, LOC130066177, LOC130066178, LOC130066179, LOC130066180, LOC130066181, LOC130066182, LOC130066183, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC130066212, LOC130066213, LOC130066214, LOC130066215, LOC130066216, LOC130066217, LOC130066218, LOC130066219, LOC130066220, LOC130066221, LOC130066222, LOC130066223, LOC130066224, LOC130066225, LOC130066226, LOC130066227, LOC130066228, LOC130066229, LOC130066230, LOC130066231, LOC130066232, LOC130066233, LOC130066234, LOC130066235, LOC130066236, LOC130066237, LOC130066238, LOC130066239, LOC130066240, LOC130066241, LOC130066242, LOC130066243, LOC130066244, LOC130066245, LOC130066246, LOC130066247, LOC130066248, LOC130066249, LOC130066250, LOC130066251, LOC130066252, LOC130066253, LOC130066254, LOC130066255, LOC130066256, LOC130066257, LOC130066258, LOC130066259, LOC130066260, LOC130066261, LOC130066262, LOC130066263, LOC130066264, LOC130066265, LOC130066266, LOC130066267, LOC130066268, LOC130066269, LOC130066270, LOC130066271, LOC130066272, LOC130066273, LOC130066274, LOC130066275, LOC130066276, LOC130066277, LOC130066278, LOC130066279, LOC130066280, LOC130066281, LOC130066282, LOC130066283, LOC130066284, LOC130066285, LOC130066286, LOC130066287, LOC130066288, LOC130066289, LOC130066290, LOC130066291, LOC130066292, LOC130066293, LOC130066294, LOC130066295, LOC130066296, LOC130066297, LOC130066298, LOC130066299, LOC130066300, LOC130066301, LOC130066302, LOC130066303, LOC130066304, LOC130066305, LOC130066306, LOC130066307, LOC130066308, LOC130066309, LOC130066310, LOC130066311, LOC130066312, LOC130066313, LOC130066314, LOC130066315, LOC130066316, LOC130066317, LOC130066318, LOC130066319, LOC130066320, LOC130066321, LOC130066322, LOC130066323, LOC130066324, LOC130066325, LOC130066326, LOC130066327, LOC130066328, LOC130066329, LOC130066330, LOC130066331, LOC130066332, LOC130066333, LOC130066334, LOC130066335, LOC130066336, LOC130066337, LOC130066338, LOC130066339, LOC130066340, LOC130066341, LOC130066342, LOC130066343, LOC130066344, LOC130066345, LOC130066346, LOC130066347, LOC130066348, LOC130066349, LOC130066350, LOC130066351, LOC130066352, LOC130066353, LOC130066354, LOC130066355, ABHD16B, ACOT8, ADNP, ADNP-AS1, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFGEF2, ARFRP1, ATP5F1E, ATP9A, AURKA, B4GALT5, BCAS1, BCAS4, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, CABLES2, CASS4, CBLN4, CD40, CDH22, CDH26, CDH4, CEBPB, CEBPB-AS1, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSE1L, CSE1L-DT, CSTF1, CTCFL, CTSA, CTSZ, CYP24A1, DBNDD2, DDX27, DIDO1, DNAJC5, DNTTIP1, DOK5, DPM1, EDN3, EEF1A2, ELMO2, EPPIN, EPPIN-WFDC6, EYA2, EYA2-AS1, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNB1, KCNG1, KCNQ2, KCNQ2-AS1, KCNS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00494, LINC00659, LINC01056, LINC01270, LINC01271, LINC01273, LINC01275, LINC01429, LINC01440, LINC01441, LINC01522, LINC01523, LINC01524, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC01754, LINC02597, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC100131496, LOC101927377, LOC101927932, LOC101928048, LOC105369209, LOC105372631, LOC105372633, LOC105372653, LOC105372669, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC107985388, LOC108281116, LOC109461473, LOC109621227, LOC110121370, LOC110121454, LOC110121469, LOC110594337, LOC111365159, LOC111413042, LOC112268269, LOC112268270, LOC112694717, LOC112694718, LOC112694720, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC113960610, LOC113960611, LOC114004352, LOC114004353, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC116286206, LOC116286207, LOC116286208, LOC116286209, LOC120285836, LOC121627906, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853008, LOC121853010, LOC121853011, LOC121853012, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387277, LOC125387278, LOC125387279, LOC125387280, LOC125387281, LOC125387282, LOC125387283, LOC125387284, LOC125387285, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC130066356, LOC130066357, LOC130066358, LOC130066359, LOC130066360, LOC130066361, LOC130066362, LOC130066363, LOC130066364, LOC130066365, LOC130066366, LOC130066367, LOC130066368, LOC130066369, LOC130066370, LOC130066371, LOC130066372, LOC130066373, LOC130066374, LOC130066375, LOC130066376, LOC130066377, LOC130066378, LOC130066379, LOC130066380, LOC130066381, LOC130066382, LOC130066383, LOC130066384, LOC130066385, LOC130066386, LOC130066387, LOC130066388, LOC130066389, LOC130066390, LOC130066391, LOC130066392, LOC130066393, LOC130066394, LOC130066395, LOC130066396, LOC130066397, LOC130066398, LOC130066399, LOC130066400, LOC130066401, LOC130066402, LOC130066403, LOC130066404, LOC130066405, LOC130066406, LOC130066407, LOC130066408, LOC130066409, LOC130066410, LOC130066411, LOC130066412, LOC130066413, LOC130066414, LOC130066415, LOC130066416, LOC130066417, LOC130066418, LOC130066419, LOC130066420, LOC130066421, LOC130066422, LOC130066423, LOC130066424, LOC130066425, LOC130066426, LOC130066427, LOC130066428, LOC132090577, LOC132090578, LOC132090579, LOC132090580, LOC132090581, LOC132090582, LOC132090583, LOC132090584, LOC132090585, LOC132090586, LOC132090587, LOC132090588, LOC132090589, LOC132090590, LOC132090591, LOC132090592, LOC132090593, LOC132090594, LOC132090595, LOC132090596, LOC132090597, LOC132090598, LOC132090599, LOC132090600, LOC132090601, LOC132090602, LOC132090603, LOC132090604, LOC132090605, LOC132090606, LOC132090911, LOC132090912, LOC132090913, LOC132090914, LOC132090915, LOC729296, LSM14B, MATN4, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR12122, MIR124-3, MIR1257, MIR1302-5, MIR133A2, MIR1914, MIR296, MIR298, MIR3194, MIR3195, MIR3196, MIR3616, MIR3617, MIR4325, MIR4326, MIR4533, MIR4756, MIR4758, MIR548AG2, MIR645, MIR646, MIR646HG, MIR647, MIR6812, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MMP9, MOCS3, MRGBP, MTG2, MTRNR2L3, MYT1, NCOA3, NCOA5, NELFCD, NEURL2, NFATC2, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OCSTAMP, OGFR, OGFR-AS1, OPRL1, OSBPL2, PABPC1L, PARD6B, PCIF1, PCK1, PCMTD2, PEDS1, PEDS1-UBE2V1, PELATON, PFDN4, PHACTR3, PHACTR3-AS1, PI3, PIGT, PLTP, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PREX1, PRPF6, PSMA7, PTGIS, PTK6, PTPN1, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RBPJL, RGS19, RIMS4, RIPOR3, RIPOR3-AS1, RNF114, RPS21, RPS21-DT, RTEL1, RTEL1-TNFRSF6B, RTF2, SALL4, SAMD10, SDC4, SEMG1, SEMG2, SLC12A5, SLC12A5-AS1, SLC13A3, SLC17A9, SLC2A10, SLC2A4RG, SLC35C2, SLC9A8, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SLPI, SNAI1, SNORA117, SNORD12, SNORD12B, SNORD12C, SNX21, SOX18, SPATA2, SPATA25, SPINT3, SPINT4, SPO11, SRMS, SS18L1, STAU1, STK4, STK4-DT, STMN3, STX16, STX16-NPEPL1, SULF2, SYCP2, SYS1, SYS1-DBNDD2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TNNC2, TOMM34, TP53RK, TP53RK-DT, TP53TG5, TPD52L2, TRERNA1, TSHZ2, TUBB1, UBE2C, UBE2V1, UCKL1, UCKL1-AS1, VAPB, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, YTHDF1, YWHAB, ZBP1, ZBTB46, ZBTB46-AS1, ZBTB46-AS2, ZFAS1, ZFP64, ZGPAT, ZMYND8, ZNF217, ZNF217-AS1, ZNF334, ZNF335, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:48347613-49819103
- GRCh38:
- Chr20:49731076-51202566
| ADNP, ADNP-AS1, BCAS4, CEBPB, CEBPB-AS1, DPM1, KCNG1, LINC01270, LINC01271, LINC01273, LINC01275, LOC105372653, LOC110121454, LOC112694721, LOC116286209, LOC121627907, LOC121627908, LOC121627909, LOC121853012, LOC125387286, LOC125387287, LOC125387288, LOC125387289, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC129391188, LOC129391189, LOC129391190, LOC129391191, LOC130066104, LOC130066105, LOC130066106, LOC130066107, LOC130066108, LOC130066109, LOC130066110, LOC130066111, LOC130066112, LOC130066113, LOC130066114, LOC130066115, LOC130066116, LOC130066117, LOC130066118, LOC130066119, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC132090586, LOC132090587, LOC132090588, LOC132090589, LOC132090590, LOC132090591, MIR12122, MIR1302-5, MIR645, MOCS3, PARD6B, PEDS1, PEDS1-UBE2V1, PELATON, PTPN1, RIPOR3, RIPOR3-AS1, RNF114, SLC9A8, SNAI1, SPATA2, TRERNA1, UBE2V1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:48563774-54450462
- GRCh38:
- Chr20:49947237-55875406
| ADNP, ADNP-AS1, ATP9A, BCAS1, BCAS4, CEBPB, CEBPB-AS1, CYP24A1, DOK5, DPM1, KCNG1, LINC01270, LINC01271, LINC01273, LINC01275, LINC01429, LINC01440, LINC01441, LINC01524, LOC105372669, LOC105372672, LOC110121370, LOC110121454, LOC111413042, LOC112694721, LOC112694722, LOC112694723, LOC116286209, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121853013, LOC125387290, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC125387299, LOC125387300, LOC125387301, LOC125387302, LOC125387303, LOC125387304, LOC125387305, LOC125387306, LOC125387307, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC126863052, LOC126863053, LOC126863054, LOC126863055, LOC126863056, LOC126863057, LOC126863058, LOC126863059, LOC126863060, LOC126863061, LOC126863062, LOC129391189, LOC129391190, LOC129391191, LOC129391192, LOC129391193, LOC129391194, LOC129391195, LOC129391196, LOC129391197, LOC129391198, LOC129391199, LOC129456124, LOC130066117, LOC130066118, LOC130066119, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, LOC130066173, LOC130066174, LOC130066175, LOC130066176, LOC130066177, LOC130066178, LOC130066179, LOC130066180, LOC130066181, LOC130066182, LOC130066183, LOC130066184, LOC130066185, LOC130066186, LOC130066187, LOC130066188, LOC130066189, LOC130066190, LOC130066191, LOC130066192, LOC130066193, LOC130066194, LOC130066195, LOC130066196, LOC130066197, LOC130066198, LOC130066199, LOC130066200, LOC130066201, LOC130066202, LOC130066203, LOC130066204, LOC130066205, LOC130066206, LOC130066207, LOC130066208, LOC130066209, LOC130066210, LOC130066211, LOC132090591, MIR1302-5, MIR3194, MIR4756, MIR645, MOCS3, NFATC2, PARD6B, PEDS1, PEDS1-UBE2V1, PELATON, PFDN4, PTPN1, RIPOR3, RIPOR3-AS1, RNF114, SALL4, SNAI1, TRERNA1, TSHZ2, UBE2V1, ZFP64, ZNF217, ZNF217-AS1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr20:48605660-50112183
- GRCh38:
- Chr20:49989123-51495645
| ADNP, ADNP-AS1, BCAS4, CEBPB, CEBPB-AS1, DPM1, KCNG1, LINC01270, LINC01271, LINC01273, LINC01275, LOC110121454, LOC112694721, LOC116286209, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC125387291, LOC125387293, LOC125387294, LOC125387295, LOC125387296, LOC125387297, LOC125387298, LOC126863044, LOC126863045, LOC126863046, LOC126863047, LOC126863048, LOC126863049, LOC126863050, LOC126863051, LOC129391189, LOC129391190, LOC129391191, LOC130066120, LOC130066121, LOC130066122, LOC130066123, LOC130066124, LOC130066125, LOC130066126, LOC130066127, LOC130066128, LOC130066129, LOC130066130, LOC130066131, LOC130066132, LOC130066133, LOC130066134, LOC130066135, LOC130066136, LOC130066137, LOC130066138, LOC130066139, LOC130066140, LOC130066141, LOC130066142, LOC130066143, LOC130066144, LOC130066145, LOC130066146, LOC130066147, LOC130066148, LOC130066149, LOC130066150, LOC130066151, LOC130066152, LOC130066153, LOC130066154, LOC130066155, LOC130066156, LOC130066157, LOC130066158, LOC130066159, LOC130066160, LOC130066161, LOC130066162, LOC130066163, LOC130066164, LOC130066165, LOC130066166, LOC130066167, LOC130066168, LOC130066169, LOC130066170, LOC130066171, LOC130066172, MIR1302-5, MIR3194, MIR645, MOCS3, NFATC2, PARD6B, PEDS1, PEDS1-UBE2V1, PELATON, PTPN1, RIPOR3, RIPOR3-AS1, TRERNA1, UBE2V1 | | See cases | Likely pathogenic (Mar 21, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr20:49181584
- GRCh38:
- Chr20:50565047
| PTPN1 | Q5R, Q78R | Inborn genetic diseases | Uncertain significance (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49191191
- GRCh38:
- Chr20:50574654
| PTPN1 | | not provided | Benign (Jun 21, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49194958
- GRCh38:
- Chr20:50578421
| PTPN1 | T92I, T165I | Inborn genetic diseases | Uncertain significance (Jul 21, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49195095
- GRCh38:
- Chr20:50578558
| PTPN1 | V138I, V211I | Inborn genetic diseases | Likely benign (Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49195715
- GRCh38:
- Chr20:50579178
| PTPN1 | R165K, R238K | Inborn genetic diseases | Uncertain significance (Sep 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49196280
- GRCh38:
- Chr20:50579743
| PTPN1 | P229L, P302L | not provided | Likely benign (May 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49196433
- GRCh38:
- Chr20:50579896
| PTPN1 | P280R, P353R | Inborn genetic diseases | Uncertain significance (Sep 12, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49197846
- GRCh38:
- Chr20:50581309
| PTPN1 | S378N, S305N | Inborn genetic diseases | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49197955
- GRCh38:
- Chr20:50581418
| PTPN1 | | not provided | Benign (Dec 13, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr20:49199355-49199356
- GRCh38:
- Chr20:50582818-50582819
| PTPN1 | | Insulin resistance, susceptibility to | risk factor (Mar 1, 2002) | no assertion criteria provided |
| - GRCh37:
- Chr20:49150754-49443848
| PTPN1, PARD6B, RIPOR3, BCAS4 | | not provided | Likely benign (Jun 7, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr20:63244-62961294
| AAR2, ABHD12, ABHD16B, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADAM33, ADIG, ADISSP, ADNP, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, ANKRD60, AP5S1, APCDD1L, APMAP, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASIP, ASXL1, ATP5F1E, ATP9A, ATRN, AURKA, AVP, B4GALT5, BANF2, BCAS1, BCAS4, BCL2L1, BFSP1, BHLHE23, BIRC7, BLCAP, BMP2, BMP7, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, C20orf141, C20orf144, C20orf173, C20orf202, C20orf203, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, CIMIP1, CNBD2, COL20A1, COL9A3, COMMD7, COX4I2, CPNE1, CPXM1, CRLS1, CRNKL1, CSE1L, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTF1, CSTL1, CTCFL, CTNNBL1, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DLGAP4, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DUSP15, DYNLRB1, DZANK1, E2F1, EBF4, EDEM2, EDN3, EEF1A2, EFCAB8, EIF2S2, EIF6, ELMO2, EMILIN3, ENTPD6, EPB41L1, EPPIN, EPPIN-WFDC6, ERGIC3, ESF1, EYA2, FAM110A, FAM209A, FAM209B, FAM210B, FAM217B, FAM83C, FAM83D, FASTKD5, FERMT1, FITM2, FKBP1A, FLRT3, FNDC11, FOXA2, FOXS1, GATA5, GCNT7, GDAP1L1, GDF5, GDF5-AS1, GFRA4, GGT7, GGTLC1, GHRH, GID8, GINS1, GMEB2, GNAS, GNAS-AS1, GNRH2, GPCPD1, GSS, GTSF1L, GZF1, HAO1, HAR1A, HAR1B, HCK, HELZ2, HM13, HNF4A, HRH3, HSPA12B, ID1, IDH3B, IFT52, INSM1, ISM1, ITCH, ITPA, JAG1, JPH2, KAT14, KCNB1, KCNG1, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, KIF3B, KIZ, L3MBTL1, LAMA5, LAMP5, LBP, LIME1, LINC01597, LINC01711, LINC02910, LKAAEAR1, LOC100128310, LPIN3, LRRN4, LSM14B, LZTS3, MACROD2, MAFB, MANBAL, MAP1LC3A, MAPRE1, MATN4, MAVS, MC3R, MCM8, MGME1, MIR1-1, MIR1-1HG, MIR103A2, MIR1292, MIR133A2, MIR296, MIR298, MIR499A, MKKS, MMP24, MMP9, MOCS3, MRGBP, MROH8, MRPS26, MTCL2, MTG2, MTRNR2L3, MYBL2, MYH7B, MYL9, MYLK2, MYT1, NAA20, NANP, NAPB, NCOA3, NCOA5, NCOA6, NDRG3, NDUFAF5, NECAB3, NELFCD, NEURL2, NFATC2, NFS1, NINL, NKAIN4, NKX2-2, NKX2-4, NNAT, NOL4L, NOP56, NPBWR2, NPEPL1, NRSN2, NSFL1C, NTSR1, NXT1, OCSTAMP, OGFR, OPRL1, OSBPL2, OSER1, OTOR, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARD6B, PAX1, PCED1A, PCIF1, PCK1, PCMTD2, PCNA, PCNA-AS1, PCSK2, PDRG1, PDYN, PEDS1, PEDS1-UBE2V1, PET117, PFDN4, PHACTR3, PHF20, PI3, PIGT, PIGU, PKIG, PLAGL2, PLCB1, PLCB4, PLCG1, PLTP, PMEPA1, POFUT1, POLR3F, PPDPF, PPP1R16B, PPP1R3D, PRELID3B, PREX1, PRND, PRNP, PROCR, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTK6, PTPN1, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RALGAPB, RALY, RASSF2, RBBP8NL, RBBP9, RBCK1, RBL1, RBM12, RBM38, RBM39, RBPJL, REM1, RGS19, RIMS4, RIN2, RIPOR3, RNF114, RNF24, ROMO1, RPN2, RPRD1B, RPS21, RRBP1, RSPO4, RTEL1, RTF2, SALL4, SAMD10, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SCRT2, SDC4, SDCBP2, SEC23B, SEL1L2, SEMG1, SEMG2, SERINC3, SGK2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLA2, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A10, SLC2A4RG, SLC32A1, SLC35C2, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SLPI, SLX4IP, SMOX, SNAI1, SNAP25, SNHG11, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOX12, SOX18, SPAG4, SPATA2, SPATA25, SPEF1, SPINT3, SPINT4, SPO11, SPTLC3, SRC, SRMS, SRSF6, SRXN1, SS18L1, SSTR4, STAU1, STK35, STK4, STMN3, STX16, SULF2, SUN5, SYCP2, SYNDIG1, SYS1, TAF4, TASP1, TBC1D20, TCEA2, TCF15, TCFL5, TFAP2C, TGIF2, TGIF2-RAB5IF, TGM2, TGM3, TGM6, THBD, TLDC2, TM9SF4, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TNFRSF6B, TNNC2, TOMM34, TOP1, TOX2, TP53INP2, TP53RK, TP53TG5, TPD52L2, TPX2, TRERNA1, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, TTLL9, TTPAL, TUBB1, UBE2C, UBE2V1, UBOX5, UCKL1, UQCC1, VAPB, VPS16, VSTM2L, VSX1, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, XKR7, XRN2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF217, ZNF334, ZNF335, ZNF337, ZNF341, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr20:63244-62948788
| AAR2, ABHD12, ABHD16B, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADAM33, ADIG, ADISSP, ADNP, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, ANKRD60, AP5S1, APCDD1L, APMAP, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASIP, ASXL1, ATP5F1E, ATP9A, ATRN, AURKA, AVP, B4GALT5, BANF2, BCAS1, BCAS4, BCL2L1, BFSP1, BHLHE23, BIRC7, BLCAP, BMP2, BMP7, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, C20orf141, C20orf144, C20orf173, C20orf202, C20orf203, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, CIMIP1, CNBD2, COL20A1, COL9A3, COMMD7, COX4I2, CPNE1, CPXM1, CRLS1, CRNKL1, CSE1L, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTF1, CSTL1, CTCFL, CTNNBL1, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DLGAP4, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DUSP15, DYNLRB1, DZANK1, E2F1, EBF4, EDEM2, EDN3, EEF1A2, EFCAB8, EIF2S2, EIF6, ELMO2, EMILIN3, ENTPD6, EPB41L1, EPPIN, EPPIN-WFDC6, ERGIC3, ESF1, EYA2, FAM110A, FAM209A, FAM209B, FAM210B, FAM217B, FAM83C, FAM83D, FASTKD5, FERMT1, FITM2, FKBP1A, FLRT3, FNDC11, FOXA2, FOXS1, GATA5, GCNT7, GDAP1L1, GDF5, GDF5-AS1, GFRA4, GGT7, GGTLC1, GHRH, GID8, GINS1, GMEB2, GNAS, GNAS-AS1, GNRH2, GPCPD1, GSS, GTSF1L, GZF1, HAO1, HAR1A, HAR1B, HCK, HELZ2, HM13, HNF4A, HRH3, HSPA12B, ID1, IDH3B, IFT52, INSM1, ISM1, ITCH, ITPA, JAG1, JPH2, KAT14, KCNB1, KCNG1, KCNK15, KCNQ2, KCNS1, KIAA1755, KIF16B, KIF3B, KIZ, L3MBTL1, LAMA5, LAMP5, LBP, LIME1, LINC01597, LINC01711, LINC02910, LKAAEAR1, LOC100128310, LPIN3, LRRN4, LSM14B, LZTS3, MACROD2, MAFB, MANBAL, MAP1LC3A, MAPRE1, MATN4, MAVS, MC3R, MCM8, MGME1, MIR1-1, MIR1-1HG, MIR103A2, MIR1292, MIR133A2, MIR296, MIR298, MIR499A, MKKS, MMP24, MMP9, MOCS3, MRGBP, MROH8, MRPS26, MTCL2, MTG2, MTRNR2L3, MYBL2, MYH7B, MYL9, MYLK2, MYT1, NAA20, NANP, NAPB, NCOA3, NCOA5, NCOA6, NDRG3, NDUFAF5, NECAB3, NELFCD, NEURL2, NFATC2, NFS1, NINL, NKAIN4, NKX2-2, NKX2-4, NNAT, NOL4L, NOP56, NPBWR2, NPEPL1, NRSN2, NSFL1C, NTSR1, NXT1, OCSTAMP, OGFR, OPRL1, OSBPL2, OSER1, OTOR, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARD6B, PAX1, PCED1A, PCIF1, PCK1, PCMTD2, PCNA, PCNA-AS1, PCSK2, PDRG1, PDYN, PEDS1, PEDS1-UBE2V1, PET117, PFDN4, PHACTR3, PHF20, PI3, PIGT, PIGU, PKIG, PLAGL2, PLCB1, PLCB4, PLCG1, PLTP, PMEPA1, POFUT1, POLR3F, PPDPF, PPP1R16B, PPP1R3D, PRELID3B, PREX1, PRND, PRNP, PROCR, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTK6, PTPN1, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RALGAPB, RALY, RASSF2, RBBP8NL, RBBP9, RBCK1, RBL1, RBM12, RBM38, RBM39, RBPJL, REM1, RGS19, RIMS4, RIN2, RIPOR3, RNF114, RNF24, ROMO1, RPN2, RPRD1B, RPS21, RRBP1, RSPO4, RTEL1, RTF2, SALL4, SAMD10, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SCRT2, SDC4, SDCBP2, SEC23B, SEL1L2, SEMG1, SEMG2, SERINC3, SGK2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLA2, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A10, SLC2A4RG, SLC32A1, SLC35C2, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SLPI, SLX4IP, SMOX, SNAI1, SNAP25, SNHG11, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOX12, SOX18, SPAG4, SPATA2, SPATA25, SPEF1, SPINT3, SPINT4, SPO11, SPTLC3, SRC, SRMS, SRSF6, SRXN1, SS18L1, SSTR4, STAU1, STK35, STK4, STMN3, STX16, SULF2, SUN5, SYCP2, SYNDIG1, SYS1, TAF4, TASP1, TBC1D20, TCEA2, TCF15, TCFL5, TFAP2C, TGIF2, TGIF2-RAB5IF, TGM2, TGM3, TGM6, THBD, TLDC2, TM9SF4, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TNFRSF6B, TNNC2, TOMM34, TOP1, TOX2, TP53INP2, TP53RK, TP53TG5, TPD52L2, TPX2, TRERNA1, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, TTLL9, TTPAL, TUBB1, UBE2C, UBE2V1, UBOX5, UCKL1, UQCC1, VAPB, VPS16, VSTM2L, VSX1, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, XKR7, XRN2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF217, ZNF334, ZNF335, ZNF337, ZNF341, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr20:63244-62912463
| L3MBTL1, LAMA5, LAMP5, LBP, LIME1, LINC01597, LINC01711, LINC02910, LKAAEAR1, LOC100128310, LPIN3, LRRN4, LSM14B, LZTS3, MACROD2, MAFB, MANBAL, MAP1LC3A, MAPRE1, MATN4, MAVS, MC3R, MCM8, MGME1, MIR1-1, MIR1-1HG, MIR103A2, MIR1292, MIR133A2, MIR296, MIR298, MIR499A, MKKS, MMP24, MMP9, MOCS3, MRGBP, MROH8, MRPS26, MTCL2, MTG2, MTRNR2L3, MYBL2, MYH7B, MYL9, MYLK2, MYT1, NAA20, NANP, NAPB, NCOA3, NCOA5, NCOA6, NDRG3, NDUFAF5, NECAB3, NELFCD, NEURL2, NFATC2, NFS1, NINL, NKAIN4, NKX2-2, NKX2-4, NNAT, NOL4L, NOP56, NPBWR2, NPEPL1, NRSN2, NSFL1C, NTSR1, NXT1, OCSTAMP, OGFR, OPRL1, OSBPL2, OSER1, OTOR, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARD6B, PAX1, PCED1A, PCIF1, PCK1, PCMTD2, PCNA, PCNA-AS1, PCSK2, PDRG1, PDYN, PEDS1, PEDS1-UBE2V1, PET117, PFDN4, PHACTR3, PHF20, PI3, PIGT, PIGU, PKIG, PLAGL2, PLCB1, PLCB4, PLCG1, PLTP, PMEPA1, POFUT1, POLR3F, PPDPF, PPP1R16B, PPP1R3D, PRELID3B, PREX1, PRND, PRNP, PROCR, PROKR2, PRPF6, PSMA7, PSMF1, PTGIS, PTK6, PTPN1, PTPRA, PTPRT, PXMP4, PYGB, R3HDML, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RALGAPB, RALY, RASSF2, RBBP8NL, RBBP9, RBCK1, RBL1, RBM12, RBM38, RBM39, RBPJL, REM1, RGS19, RIMS4, RIN2, RIPOR3, RNF114, RNF24, ROMO1, RPN2, RPRD1B, RPS21, RRBP1, RSPO4, RTEL1, RTF2, SALL4, SAMD10, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SCRT2, SDC4, SDCBP2, SEC23B, SEL1L2, SEMG1, SEMG2, SERINC3, SGK2, SHLD1, SIGLEC1, SIRPA, SIRPB1, SIRPB2, SIRPD, SIRPG, SLA2, SLC12A5, SLC13A3, SLC17A9, SLC23A2, SLC24A3, SLC2A10, SLC2A4RG, SLC32A1, SLC35C2, SLC4A11, SLC52A3, SLC9A8, SLCO4A1, SLPI, SLX4IP, SMOX, SNAI1, SNAP25, SNHG11, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOX12, SOX18, SPAG4, SPATA2, SPATA25, SPEF1, SPINT3, SPINT4, SPO11, SPTLC3, SRC, SRMS, SRSF6, SRXN1, SS18L1, SSTR4, STAU1, STK35, STK4, STMN3, STX16, SULF2, SUN5, SYCP2, SYNDIG1, SYS1, TAF4, TASP1, TBC1D20, TCEA2, TCF15, TCFL5, TFAP2C, TGIF2, TGIF2-RAB5IF, TGM2, TGM3, TGM6, THBD, TLDC2, TM9SF4, TMC2, TMEM230, TMEM239, TMEM74B, TMX4, TNFRSF6B, TNNC2, TOMM34, TOP1, TOX2, TP53INP2, TP53RK, TP53TG5, TPD52L2, TPX2, TRERNA1, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, TTLL9, TTPAL, TUBB1, UBE2C, UBE2V1, UBOX5, UCKL1, UQCC1, VAPB, VPS16, VSTM2L, VSX1, WFDC10A, WFDC10B, WFDC11, WFDC12, WFDC13, WFDC2, WFDC3, WFDC5, WFDC6, WFDC8, WFDC9, XKR7, XRN2, YTHDF1, YWHAB, ZBP1, ZBTB46, ZCCHC3, ZFP64, ZGPAT, ZHX3, ZMYND8, ZNF133, ZNF217, ZNF334, ZNF335, ZNF337, ZNF341, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3, AAR2, ABHD12, ABHD16B, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADA, ADAM33, ADIG, ADISSP, ADNP, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, ANKRD60, AP5S1, APCDD1L, APMAP, ARFGAP1, ARFGEF2, ARFRP1, ARHGAP40, ASIP, ASXL1, ATP5F1E, ATP9A, ATRN, AURKA, AVP, B4GALT5, BANF2, BCAS1, BCAS4, BCL2L1, BFSP1, BHLHE23, BIRC7, BLCAP, BMP2, BMP7, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, C20orf141, C20orf144, C20orf173, C20orf202, C20orf203, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, CIMIP1, CNBD2, COL20A1, COL9A3, COMMD7, COX4I2, CPNE1, CPXM1, CRLS1, CRNKL1, CSE1L, CSNK2A1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTF1, CSTL1, CTCFL, CTNNBL1, CTSA, CTSZ, CYP24A1, DBNDD2, DDRGK1, DDX27, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB126, DEFB127, DEFB128, DEFB129, DEFB132, DHX35, DIDO1, DLGAP4, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DUSP15, DYNLRB1, DZANK1, E2F1, EBF4, EDEM2, EDN3, EEF1A2, EFCAB8, EIF2S2, EIF6, ELMO2, EMILIN3, ENTPD6, EPB41L1, EPPIN, EPPIN-WFDC6, ERGIC3, ESF1, EYA2, FAM110A, FAM209A, FAM209B, FAM210B, FAM217B, FAM83C, FAM83D, FASTKD5, FERMT1, FITM2, FKBP1A, FLRT3, FNDC11, FOXA2, FOXS1, GATA5, GCNT7, GDAP1L1, GDF5, GDF5-AS1, GFRA4, GGT7, GGTLC1, GHRH, GID8, GINS1, GMEB2, GNAS, GNAS-AS1, GNRH2, GPCPD1, GSS, GTSF1L, GZF1, HAO1, HAR1A, HAR1B, HCK, HELZ2, HM13, |