| - GRCh37:
- Chr20:80198-62908674
- GRCh38:
- Chr20:99557-64277321
| 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, 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, 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, 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, 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, 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, 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, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01728, LINC01729, LINC01730, LINC01733, LINC01734, LINC01742, LINC01746, LINC01747, LINC01749, LINC01751, LINC01752, LINC01754, LINC02597, LINC02871, LINC02910, LINC02970, LINC03086, LKAAEAR1, LNCNEF, LOC100128310, LOC100128988, LOC100130587, LOC100131496, LOC100134868, LOC100287792, LOC101926889, LOC101926935, LOC101927098, LOC101927159, LOC101927377, LOC101927932, LOC101928048, LOC101929413, LOC101929698, LOC102606466, LOC102723636, LOC102724545, LOC105369209, LOC105372493, LOC105372524, LOC105372576, LOC105372582, LOC105372631, LOC105372633, LOC105372653, LOC105372669, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC105379477, LOC106799846, LOC106992256, LOC107080552, LOC107303343, LOC107457602, LOC107985388, LOC107985433, LOC108167311, LOC108167312, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC108254667, LOC108281116, LOC108353820, LOC109363676, LOC109461473, LOC109461476, LOC109504727, LOC109621227, LOC110120877, LOC110120914, LOC110120921, LOC110120949, LOC110121317, LOC110121321, LOC110121332, LOC110121338, LOC110121370, LOC110121454, LOC110121469, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC110594337, LOC111240478, LOC111240479, LOC111365159, LOC111365169, LOC111365189, LOC111365218, LOC111413042, LOC111465001, LOC111562371, LOC112268269, LOC112268270, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694697, LOC112694698, LOC112694699, LOC112694700, LOC112694701, LOC112694702, LOC112694703, LOC112694704, LOC112694705, LOC112694706, LOC112694707, LOC112694708, LOC112694709, LOC112694710, LOC112694711, LOC112694712, LOC112694713, LOC112694714, LOC112694715, LOC112694716, LOC112694717, LOC112694718, LOC112694720, LOC112694721, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC112694729, LOC112694730, LOC112694731, LOC113939990, LOC113939991, LOC113939992, LOC113960609, LOC113960610, LOC113960611, LOC114004352, LOC114004353, LOC114004355, LOC114004356, LOC114004357, LOC114803474, LOC114827862, LOC114827864, LOC116286198, LOC116286199, LOC116286200, LOC116286201, LOC116286202, LOC116286203, LOC116286204, LOC116286205, LOC116286206, LOC116286207, LOC116286208, LOC116286209, LOC119746555, LOC120285836, LOC120285842, LOC121627890, LOC121627891, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121627902, LOC121627903, LOC121627904, LOC121627905, LOC121627906, LOC121627907, LOC121627908, LOC121627909, LOC121627910, LOC121627911, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121852995, LOC121852996, LOC121852997, LOC121852998, LOC121852999, LOC121853000, LOC121853001, LOC121853002, LOC121853003, LOC121853004, LOC121853005, LOC121853006, LOC121853007, LOC121853008, LOC121853010, LOC121853011, LOC121853012, LOC121853013, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, 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, 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, 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 | | See cases | Pathogenic (Oct 19, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:43416345-62908674
- GRCh38:
- Chr20:44787704-64277321
| 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, 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, 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, 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, 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, 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:
- Chr20:51852704-62915555
- GRCh38:
- Chr20:53236165-64284202
| RBM38-AS1, RGS19, RPS21, RTEL1, RTEL1-TNFRSF6B, RTF2, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TSHZ2, TUBB1, UCKL1, UCKL1-AS1, VAPB, YTHDF1, ZBP1, ZBTB46, ZBTB46-AS1, ZGPAT, ZNF217, ZNF217-AS1, ZNF512B, ZNF831, ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BCAS1, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, CABLES2, CASS4, CBLN4, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSTF1, CTCFL, CTSZ, CYP24A1, DIDO1, DNAJC5, DOK5, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01440, LINC01441, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372669, LOC105372672, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121370, LOC110121469, LOC110594337, LOC111365159, LOC111413042, LOC112268269, LOC112268270, LOC112694722, LOC112694723, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC120285836, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387305, LOC125387306, LOC125387307, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, 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, LOC128772425, LOC128772426, LOC729296, LSM14B, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4756, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCK1, PCMTD2, PFDN4, PHACTR3, PHACTR3-AS1, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38 | | See cases | Likely pathogenic (Sep 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr20:54220678-59516263
- GRCh38:
- Chr20:55630597-60941207
| LINC02910, LOC101927932, LOC101928048, LOC105372695, LOC105372698, LOC109461473, LOC110121370, LOC110121469, LOC111365159, LOC112268270, LOC112694724, LOC114004356, LOC114827864, LOC121627912, LOC121627913, LOC121853014, LOC121853015, LOC121853016, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC126863063, LOC126863064, LOC126863065, LOC126863066, LOC126863067, LOC126863068, LOC126863069, LOC126863070, LOC126863071, LOC126863072, LOC126863073, LOC729296, MC3R, MIR296, MIR298, MIR4325, MIR4532, MIR4533, MIR548AG2, MIR646, MIR646HG, MTRNR2L3, NELFCD, NKILA, NPEPL1, PCK1, PHACTR3, PHACTR3-AS1, PMEPA1, PPP1R3D, PRELID3B, RAB22A, RAE1, RBM38, RBM38-AS1, RTF2, SLMO2-ATP5E, SPO11, STX16, STX16-NPEPL1, SYCP2, TFAP2C, TUBB1, VAPB, ZBP1, ZNF831, ANKRD60, APCDD1L, APCDD1L-DT, ATP5F1E, AURKA, BMP7, BMP7-AS1, C20orf85, CASS4, CBLN4, CDH26, CSTF1, CTCFL, CTSZ, EDN3, FAM209A, FAM209B, FAM210B, FAM217B, GCNT7, GNAS, GNAS-AS1, LINC01711, LINC01716, LINC01742 | | See cases | Likely pathogenic (Jan 27, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr20:54773088-62908674
- GRCh38:
- Chr20:56198032-64277321
| ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, CABLES2, CASS4, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CSTF1, CTCFL, CTSZ, DIDO1, DNAJC5, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FLJ16779, FNDC11, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01711, LINC01716, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121469, LOC110594337, LOC111365159, LOC112268269, LOC112268270, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC114827864, LOC120285836, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387308, LOC125387309, LOC125387310, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, 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, LOC128772425, LOC128772426, LOC729296, LSM14B, MC3R, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCK1, PCMTD2, PHACTR3, PHACTR3-AS1, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RGS19, RPS21, RTEL1, RTEL1-TNFRSF6B, RTF2, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TUBB1, UCKL1, UCKL1-AS1, VAPB, YTHDF1, ZBP1, ZBTB46, ZBTB46-AS1, ZGPAT, ZNF512B, ZNF831 | | See cases | Pathogenic (Jan 3, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr20:55804471-62904442
- GRCh38:
- Chr20:57229415-64273089
| ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, BHLHE23, BIRC7, BMP7, C20orf181, C20orf204, CABLES2, CDH26, CDH4, CHRNA4, CIMIP1, COL20A1, COL9A3, CRMA, CTCFL, CTSZ, DIDO1, DNAJC5, EDN3, EEF1A2, FAM217B, FLJ16779, FNDC11, GATA5, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01711, LINC01718, LINC01742, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101927932, LOC101928048, LOC105369209, LOC105372695, LOC105372698, LOC105372703, LOC105372710, LOC108281116, LOC109461473, LOC110121469, LOC110594337, LOC111365159, LOC112268269, LOC112268270, LOC112694724, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004356, LOC114004357, LOC114803474, LOC120285836, LOC121627912, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853014, LOC121853015, LOC121853016, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387311, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, 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, LOC128772425, LOC128772426, LOC729296, LSM14B, MHENCR, MIR1-1, MIR1-1HG, MIR124-3, MIR1257, MIR133A2, MIR1914, MIR296, MIR298, MIR3195, MIR3196, MIR4325, MIR4326, MIR4533, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NKILA, NPBWR2, NPEPL1, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCK1, PCMTD2, PHACTR3, PHACTR3-AS1, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RBM38-AS1, RGS19, RPS21, RTEL1, RTEL1-TNFRSF6B, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SPO11, SRMS, SS18L1, STMN3, STX16, STX16-NPEPL1, SYCP2, TAF4, TCEA2, TCFL5, TNFRSF6B, TPD52L2, TUBB1, UCKL1, UCKL1-AS1, VAPB, YTHDF1, ZBP1, ZBTB46, ZBTB46-AS1, ZGPAT, ZNF512B, ZNF831 | | See cases | Pathogenic (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr20:57605366
- GRCh38:
- Chr20:59030311
| SLMO2-ATP5E, ATP5F1E | E51K | not provided | Uncertain significance (Jun 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57605371-57605373
- GRCh38:
- Chr20:59030316-59030318
| ATP5F1E, SLMO2-ATP5E | K50del | not provided | Uncertain significance (Sep 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57605400
- GRCh38:
- Chr20:59030345
| ATP5F1E, SLMO2-ATP5E | | not provided | Likely benign (Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57605403
- GRCh38:
- Chr20:59030348
| ATP5F1E, SLMO2-ATP5E | | not provided | Likely benign (Apr 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57605431
- GRCh38:
- Chr20:59030376
| SLMO2-ATP5E, ATP5F1E | T29K | not provided | Likely benign (Sep 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:57605463
- GRCh38:
- Chr20:59030408
| SLMO2-ATP5E, ATP5F1E | I18M | not provided | Uncertain significance (May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57605482
- GRCh38:
- Chr20:59030427
| ATP5F1E, SLMO2-ATP5E | Y12C | Mitochondrial complex V (ATP synthase) deficiency nuclear type 3 | Pathogenic (Sep 1, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr20:57605549
- GRCh38:
- Chr20:59030494
| ATP5F1E, SLMO2-ATP5E | | not provided | Likely benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57605647
- GRCh38:
- Chr20:59030592
| ATP5F1E, SLMO2-ATP5E | | not provided | Likely benign (Sep 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57606971
- GRCh38:
- Chr20:59031916
| ATP5F1E, SLMO2-ATP5E | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607260
- GRCh38:
- Chr20:59032205
| ATP5F1E, SLMO2-ATP5E | | not specified, not provided | Benign (Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:57607270
- GRCh38:
- Chr20:59032215
| ATP5F1E, SLMO2-ATP5E | | not provided | Uncertain significance (Aug 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607279
- GRCh38:
- Chr20:59032224
| SLMO2-ATP5E, ATP5F1E | L10F | not provided | Uncertain significance (Aug 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607296
- GRCh38:
- Chr20:59032241
| ATP5F1E, SLMO2-ATP5E | Y4S | not provided | Uncertain significance (Jun 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr20:57607313
- GRCh38:
- Chr20:59032258
| ATP5F1E, SLMO2-ATP5E | | not specified | Benign (Apr 23, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607331
- GRCh38:
- Chr20:59032276
| ATP5F1E, SLMO2-ATP5E | | not specified | Benign (Mar 28, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607351
- GRCh38:
- Chr20:59032296
| SLMO2-ATP5E, ATP5F1E | | not specified | Likely benign (Feb 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607352
- GRCh38:
- Chr20:59032297
| ATP5F1E, SLMO2-ATP5E | | not specified | Benign (Jan 31, 2013) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607353
- GRCh38:
- Chr20:59032298
| ATP5F1E, SLMO2-ATP5E | | not specified | Likely benign (Jan 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607363
- GRCh38:
- Chr20:59032308
| ATP5F1E, SLMO2-ATP5E | | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607449
- GRCh38:
- Chr20:59032394
| ATP5F1E, SLMO2-ATP5E | | not provided | Benign (Jun 26, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607609-57607610
- GRCh38:
- Chr20:59032554-59032555
| ATP5F1E, SLMO2-ATP5E | | not provided | Likely benign (Dec 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607645
- GRCh38:
- Chr20:59032590
| ATP5F1E, SLMO2-ATP5E | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:57607668
- GRCh38:
- Chr20:59032613
| ATP5F1E, SLMO2-ATP5E | | not provided | Benign (Jun 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:56835739-62915555
| ABHD16B, ADRM1, APCDD1L, ARFGAP1, ARFRP1, ATP5F1E, BHLHE23, BIRC7, CABLES2, CDH26, CDH4, CHRNA4, COL20A1, COL9A3, CTSZ, DIDO1, DNAJC5, EDN3, EEF1A2, FAM217B, FNDC11, GATA5, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, LAMA5, LIME1, LINC01711, LINC02910, LKAAEAR1, LOC100128310, LSM14B, MIR1-1, MIR1-1HG, MIR133A2, MIR296, MIR298, MRGBP, MTG2, MYT1, NELFCD, NKAIN4, NPBWR2, NPEPL1, NTSR1, OGFR, OPRL1, OSBPL2, PCMTD2, PHACTR3, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RBBP8NL, RGS19, RPS21, RTEL1, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SOX18, SRMS, SS18L1, STMN3, STX16, SYCP2, TAF4, TCEA2, TCFL5, TNFRSF6B, TPD52L2, TUBB1, UCKL1, VAPB, YTHDF1, ZBTB46, ZGPAT, ZNF512B, ZNF831 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:55292205-57866365
| ANKRD60, APCDD1L, ATP5F1E, BMP7, C20orf85, CTCFL, CTSZ, GNAS, GNAS-AS1, LINC01711, MIR296, MIR298, MTRNR2L3, NELFCD, NPEPL1, PCK1, PMEPA1, PRELID3B, RAB22A, RAE1, RBM38, SPO11, STX16, TUBB1, VAPB, ZBP1, ZNF831 | | not specified | Pathogenic (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr20:54823900-57899514
| STX16, APCDD1L, RAB22A, TUBB1, FAM209A, ANKRD60, BMP7, PCK1, RTF2, AURKA, ATP5F1E, MTRNR2L3, EDN3, VAPB, MC3R, CTCFL, PMEPA1, NELFCD, SPO11, TFAP2C, GCNT7, FAM210B, MIR296, RBM38, ZNF831, CTSZ, CSTF1, LINC01711, CASS4, ZBP1, NPEPL1, MIR298, GNAS, PRELID3B, C20orf85, GNAS-AS1, FAM209B, RAE1 | | not provided | Uncertain significance (Aug 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr20:51799648-62916626
| CBLN4, CDH26, CDH4, RTF2, SAMD10, SLC17A9, TCEA2, SPO11, SS18L1, STMN3, STX16, DNAJC5, DOK5, EDN3, EEF1A2, FAM209A, FAM209B, SLC2A4RG, SLCO4A1, SOX18, SRMS, SYCP2, TAF4, CHRNA4, COL20A1, FAM210B, CTCFL, CTSZ, CYP24A1, DIDO1, FAM217B, FNDC11, COL9A3, CSTF1, ABHD16B, ADRM1, ANKRD60, APCDD1L, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BCAS1, BHLHE23, BIRC7, BMP7, C20orf85, CABLES2, CASS4, GATA5, GCNT7, GID8, GMEB2, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, LAMA5, LIME1, LINC01711, LINC02910, LKAAEAR1, LOC100128310, LSM14B, MC3R, MIR1-1, MIR1-1HG, MIR133A2, MIR296, MIR298, MRGBP, MTG2, MTRNR2L3, MYT1, NELFCD, NKAIN4, NPBWR2, NPEPL1, NTSR1, OGFR, OPRL1, OSBPL2, PCK1, PCMTD2, PFDN4, PHACTR3, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RGS19, RPS21, RTEL1, TCFL5, TFAP2C, TNFRSF6B, TPD52L2, TSHZ2, TUBB1, UCKL1, VAPB, YTHDF1, ZBP1, ZBTB46, ZGPAT, ZNF217, ZNF512B, ZNF831 | | not provided | Pathogenic (Aug 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr20:56788101-62762405
| TAF4, MIR1-1, KCNQ2, TUBB1, GATA5, UCKL1, ANKRD60, HAR1B, ZBTB46, GMEB2, LOC100128310, SS18L1, NTSR1, VAPB, ARFRP1, CHRNA4, APCDD1L, EDN3, NPBWR2, ZNF831, MIR296, SYCP2, GNAS-AS1, SLCO4A1, LSM14B, TCEA2, HRH3, CTSZ, DNAJC5, BHLHE23, NKAIN4, MIR298, LKAAEAR1, YTHDF1, ZNF512B, RBBP8NL, PRELID3B, STX16, ADRM1, HAR1A, PSMA7, COL9A3, TNFRSF6B, ARFGAP1, COL20A1, OGFR, CDH26, STMN3, SOX18, OPRL1, PHACTR3, OSBPL2, CABLES2, LINC02910, MTG2, GID8, SLC2A4RG, RGS19, TCFL5, RTEL1, PPDPF, MIR133A2, SRMS, MIR1-1HG, HELZ2, BIRC7, ATP5F1E, PPP1R3D, MRGBP, FNDC11, SLC17A9, ZGPAT, DIDO1, LINC01711, FAM217B, LIME1, GNAS, NPEPL1, NELFCD, CDH4, RAB22A, RPS21, TPD52L2, EEF1A2, ABHD16B, LAMA5, SAMD10, PRPF6, PTK6 | | not provided | Pathogenic (Oct 11, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr20:55743522-62032989
| MIR1-1HG, CDH26, STX16, EDN3, RBBP8NL, ZNF831, CDH4, BIRC7, ANKRD60, LSM14B, GID8, DIDO1, PMEPA1, HAR1A, RAE1, PSMA7, NTSR1, OSBPL2, FAM217B, ZBP1, ARFGAP1, NPEPL1, SYCP2, LOC100128310, HAR1B, LAMA5, PCK1, ATP5F1E, MIR296, PRELID3B, SPO11, COL9A3, CABLES2, MIR298, MIR133A2, BHLHE23, OGFR, YTHDF1, VAPB, CTCFL, CTSZ, LINC02910, GATA5, C20orf85, SLC17A9, CHRNA4, RBM38, PPP1R3D, SS18L1, PHACTR3, HRH3, GNAS-AS1, TCFL5, TUBB1, SLCO4A1, APCDD1L, ADRM1, NELFCD, BMP7, RPS21, LINC01711, GNAS, MIR1-1, RAB22A, COL20A1, NKAIN4, MRGBP, MTG2, TAF4, MTRNR2L3 | | not provided | Pathogenic (Nov 27, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr20:54143747-62194881
| ADRM1, ANKRD60, APCDD1L, ARFGAP1, ATP5F1E, AURKA, BHLHE23, BIRC7, BMP7, C20orf85, CABLES2, CASS4, CBLN4, CDH26, CDH4, CHRNA4, COL20A1, COL9A3, CSTF1, CTCFL, CTSZ, DIDO1, EDN3, EEF1A2, FAM209A, FAM209B, FAM210B, FAM217B, FNDC11, GATA5, GCNT7, GID8, GNAS, GNAS-AS1, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, LAMA5, LINC01711, LINC02910, LOC100128310, LSM14B, MC3R, MIR1-1, MIR1-1HG, MIR133A2, MIR296, MIR298, MRGBP, MTG2, MTRNR2L3, NELFCD, NKAIN4, NPEPL1, NTSR1, OGFR, OSBPL2, PCK1, PHACTR3, PMEPA1, PPDPF, PPP1R3D, PRELID3B, PSMA7, PTK6, RAB22A, RAE1, RBBP8NL, RBM38, RPS21, RTF2, SLC17A9, SLCO4A1, SPO11, SRMS, SS18L1, STX16, SYCP2, TAF4, TCFL5, TFAP2C, TUBB1, VAPB, YTHDF1, ZBP1, ZNF831 | | not provided | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr20:63244-62961294
| 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, LOC100128028, 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, 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, SOGA1, 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, C20orf85, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, 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 | | not provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr20:63244-62948788
| AAR2, ABHD12, CASS4, CBFA2T2, DEFB129, DEFB132, DHX35, DIDO1, DZANK1, DLGAP4, DNAAF9, DNAJC5, DNMT3B, DNTTIP1, DOK5, DPM1, DSN1, DSTN, DTD1, DUSP15, CBLN4, CCM2L, CDK5RAP1, CCN5, CD40, CDH4, CDS2, CD93, CDC25B, CDH22, CDH26, DYNLRB1, ADISSP, ANKRD60, AP5S1, ABHD16B, ADA, ACOT8, ACSS1, ACSS2, ACTL10, ACTR5, ADAM33, ADIG, ADNP, ADRA1D, ADRM1, AHCY, ANGPT4, ANKEF1, 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, C20orf85, C20orf96, CABLES2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, 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, 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, LOC100128028, 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, 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, SOGA1, 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
| KCNS1, KIAA1755, KIF16B, NSFL1C, NTSR1, NXT1, PTPRA, PTPRT, PXMP4, SLPI, SLX4IP, TNNC2, TOMM34, ZSWIM1, ZSWIM3, TOP1, TOX2, TP53INP2, TTLL9, TP53RK, TP53TG5, TRERNA1, TTPAL, TPD52L2, TPX2, TRIB3, TRMT6, TRPC4AP, TSHZ2, TTI1, SMOX, SNAI1, SOX12, SNPH, SNRPB, SNRPB2, SNTA1, SNX21, SNX5, SOX18, SPAG4, SPATA2, SPATA25, SNAP25, SNHG11, SOGA1, PYGB, RBPJL, REM1, RGS19, RIMS4, R3HDML, RAB22A, RAB5IF, RAD21L1, RAE1, RALGAPA2, RBL1, RBM12, RBM38, RBM39, OCSTAMP, OGFR, OSBPL2, OSER1, OTOR, OPRL1, OVOL2, OXT, PABPC1L, PAK5, PANK2, PARD6B, PAX1, KIF3B, LPIN3, LSM14B, LZTS3, MACROD2, LKAAEAR1, LOC100128028, LOC100128310, LRRN4, KIZ, LINC01711, LINC02910, 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, L3MBTL1, LAMA5, LAMP5, LBP, LIME1, LINC01597, 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, 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, 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, RALGAPB, RALY, RASSF2, RBBP8NL, RBBP9, RBCK1, 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, 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, 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, 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, C20orf85, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, 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 | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr20:61569-62915555
| 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, C20orf85, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, 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, LOC100128028, 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, 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, SOGA1, 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 | | See cases | Pathogenic (Dec 2, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr20:61569-62915555
| C20orf85, C20orf96, CABLES2, CASS4, CBFA2T2, CBLN4, CCM2L, CCN5, CD40, CD93, CDC25B, CDH22, CDH26, CDH4, CDK5RAP1, CDS2, CEBPB, CENPB, CEP250, CFAP61, CHD6, CHGB, CHMP4B, CHRNA4, 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, LOC100128028, 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, 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, SOGA1, 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, |