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Items: 1 to 100 of 563

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
2.
GRCh37:
Chr20:9792081-37945599
GRCh38:
Chr20:9811433-39316956
AAR2, ABALON, ABHD12, ACSS1, ACSS2, ACTL10, ACTR5, ADIG, AHCY, ANKEF1, APMAP, ARHGAP40, ASIP, ASXL1, BANF2, BCL2L1, BCL2L1-AS1, BFSP1, BLCAP, BPI, BPIFA1, BPIFA2, BPIFA3, BPIFB1, BPIFB2, BPIFB3, BPIFB4, BPIFB6, BTBD3, C20orf144, C20orf173, C20orf203, CBFA2T2, CCM2L, CD93, CDK5RAP1, CEP250, CEP250-AS1, CFAP61, CFAP61-AS1, CHMP4B, CNBD2, COMMD7, COX4I2, CPNE1, CRNKL1, CST1, CST11, CST2, CST3, CST4, CST5, CST7, CST8, CST9, CST9L, CSTL1, CTNNBL1, DEFB115, DEFB116, DEFB118, DEFB119, DEFB121, DEFB123, DEFB124, DHX35, DLGAP4, DLGAP4-AS1, DNMT3B, DSN1, DSTN, DTD1, DTD1-AS1, DUSP15, DYNLRB1, DZANK1, E2F1, EDEM2, EFCAB8, EIF2S2, EIF6, ENTPD6, EPB41L1, EPB41L1-AS1, ERGIC3, ESF1, FAM182A, FAM182B, FAM242A, FAM242B, FAM83C, FAM83C-AS1, FAM83D, FLRT3, FOXA2, FOXS1, GDF5, GDF5-AS1, GGT7, GGTLC1, GHRH, GINS1, GSS, GZF1, HCK, HM13, HM13-AS1, ID1, INSM1, ISM1, ISM1-AS1, ITCH, JAG1, KAT14, KIAA1755, KIF16B, KIF3B, KIZ, KIZ-AS1, LBP, LCDR, LINC00028, LINC00237, LINC00261, LINC00489, LINC00652, LINC00656, LINC00687, LINC00851, LINC01427, LINC01431, LINC01432, LINC01597, LINC01721, LINC01722, LINC01723, LINC01726, LINC01727, LINC01733, LINC01734, LINC01746, LINC01747, LINC01752, LINC02871, LNCNEF, LOC100134868, LOC100287792, LOC101926889, LOC101926935, LOC101929413, LOC101929698, LOC102606466, LOC102723636, LOC105372524, LOC105372576, LOC105372582, LOC105379477, LOC107985433, LOC108228200, LOC108228202, LOC108254667, LOC109461476, LOC110120877, LOC110120921, LOC110120949, LOC110121317, LOC110121332, LOC110121338, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC111365218, LOC111465001, LOC112268271, LOC112694687, LOC112694688, LOC112694689, LOC112694690, LOC112694691, LOC112694692, LOC112694693, LOC112694694, LOC112694695, LOC112694696, LOC112694700, LOC112694701, LOC112694702, LOC112694703, LOC112694704, LOC112694705, LOC112694706, LOC112694707, LOC112694708, LOC112694709, LOC112694710, LOC113939992, LOC114827862, LOC116286204, LOC116286205, LOC119746555, LOC120285842, LOC121627892, LOC121627893, LOC121627894, LOC121627895, LOC121627896, LOC121627897, LOC121627898, LOC121627899, LOC121627900, LOC121627901, LOC121627902, LOC121627903, LOC121627904, LOC121627905, LOC121852999, LOC121853000, LOC121853001, LOC121853002, LOC121853003, LOC121853004, LOC121853005, 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, 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, LOC128706665, LOC128706666, LOC149684, LOC284788, LOC284798, LOC339593, LOC613266, MACROD2, MACROD2-AS1, MACROD2-IT1, MANBAL, MAP1LC3A, MAPRE1, MCTS2, MGME1, MIR1289-1, MIR1825, MIR3192, MIR3193, MIR4755, MIR499A, MIR499B, MIR548O2, MIR644A, MIR663A, MIR663AHG, MIR6870, MKKS, MMP24, MMP24-AS1-EDEM2, MMP24OS, MROH8, MTCL2, MYH7B, MYL9, MYLK2, NAA20, NANP, NAPB, NCOA6, NDRG3, NDUFAF5, NECAB3, NFS1, NINL, NKX2-2, NKX2-4, NNAT, NOL4L, NOL4L-DT, NORAD, NXT1, OTOR, OVOL2, PAK5, PARAL1, PAX1, PCSK2, PDRG1, PET117, PHF20, PIGU, PLAGL2, POFUT1, POLR3F, PPP1R16B, PROCR, PXMP4, PYGB, RAB5IF, RALGAPA2, RALGAPB, RALY, RALY-AS1, RBBP9, RBL1, RBM12, RBM39, REM1, RIN2, ROMO1, RPN2, RPRD1B, RRBP1, SAMHD1, SCAND1, SCP2D1, SCP2D1-AS1, SEC23B, SEL1L2, SLA2, SLC24A3, SLC24A3-AS1, SLC32A1, SLX4IP, SMIM26, SNAP25, SNAP25-AS1, SNHG11, SNHG17, SNORA60, SNORA71A, SNORA71B, SNORA71C, SNORA71D, SNORA71E, SNORD17, SNRPB2, SNTA1, SNX5, SPAG4, SPTLC3, SRC, SSTR4, SUN5, SYNDIG1, TASP1, TGIF2, TGIF2-RAB5IF, TGM2, THBD, TLDC2, TM9SF4, TP53INP2, TPX2, TRPC4AP, TTI1, TTLL9, UQCC1, VSTM2L, VSX1, XKR7, XRN2, ZNF133, ZNF133-AS1, ZNF337, ZNF337-AS1, ZNF341, ZNF341-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr20:29833386-30605088
GRCh38:
Chr20:31245583-32017285
See casesLikely pathogenic
(Apr 5, 2012)
no assertion criteria provided
4.
GRCh37:
Chr20:29842786-32060886
GRCh38:
Chr20:31254983-33473080
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr20:29842786-31163090
GRCh38:
Chr20:31254983-32575288
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr20:30407121
GRCh38:
Chr20:31819318
MYLK2not providedLikely benign
(Dec 24, 2019)
criteria provided, single submitter
7.
GRCh37:
Chr20:30407213
GRCh38:
Chr20:31819410
MYLK2not specifiedBenign
(Nov 22, 2013)
criteria provided, single submitter
8.
GRCh37:
Chr20:30407218
GRCh38:
Chr20:31819415
MYLK2not specifiedLikely benign
(Dec 18, 2017)
criteria provided, single submitter
9.
GRCh37:
Chr20:30407371
GRCh38:
Chr20:31819568
MYLK2not specifiedUncertain significance
(Aug 16, 2012)
criteria provided, single submitter
10.
GRCh37:
Chr20:30407381
GRCh38:
Chr20:31819578
MYLK2CardiomyopathyUncertain significance
(Mar 11, 2020)
criteria provided, single submitter
11.
GRCh37:
Chr20:30407387
GRCh38:
Chr20:31819584
MYLK2A2TVentricular tachycardia, Long QT syndrome, Cardiomyopathy,
not specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 1
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
12.
GRCh37:
Chr20:30407388
GRCh38:
Chr20:31819585
MYLK2A2VInborn genetic diseases, Hypertrophic cardiomyopathy 1Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
13.
GRCh37:
Chr20:30407389
GRCh38:
Chr20:31819586
MYLK2Inborn genetic diseases, Hypertrophic cardiomyopathy 1, not provided
Benign/Likely benign
(Apr 15, 2021)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr20:30407393-30407394
GRCh38:
Chr20:31819590-31819591
MYLK2N5fsHypertrophic cardiomyopathy 1Uncertain significance
(Apr 30, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr20:30407399
GRCh38:
Chr20:31819596
MYLK2G6Rnot specifiedUncertain significance
(May 28, 2014)
criteria provided, single submitter
16.
GRCh37:
Chr20:30407400
GRCh38:
Chr20:31819597
MYLK2G6EHypertrophic cardiomyopathy 1Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr20:30407404
GRCh38:
Chr20:31819601
MYLK2Inborn genetic diseases, not specified, Hypertrophic cardiomyopathy 1
Likely benign
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr20:30407415
GRCh38:
Chr20:31819612
MYLK2G11EHypertrophic cardiomyopathy 1Uncertain significance
(Jul 5, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr20:30407433
GRCh38:
Chr20:31819630
MYLK2T17IHypertrophic cardiomyopathy 1Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr20:30407433
GRCh38:
Chr20:31819630
MYLK2T17KInborn genetic diseases, not specified, Hypertrophic cardiomyopathy 1
Conflicting interpretations of pathogenicity
(Nov 17, 2022)
criteria provided, conflicting interpretations
21.
GRCh37:
Chr20:30407444
GRCh38:
Chr20:31819641
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Jun 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr20:30407446
GRCh38:
Chr20:31819643
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Oct 17, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr20:30407448
GRCh38:
Chr20:31819645
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Feb 1, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr20:30407449
GRCh38:
Chr20:31819646
MYLK2Hypertrophic cardiomyopathy 1Uncertain significance
(Jun 23, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr20:30407699
GRCh38:
Chr20:31819896
MYLK2not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
26.
GRCh37:
Chr20:30407884
GRCh38:
Chr20:31820081
MYLK2not providedLikely benign
(Oct 28, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr20:30407909
GRCh38:
Chr20:31820106
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Oct 27, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr20:30407909
GRCh38:
Chr20:31820106
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Jul 22, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr20:30407932
GRCh38:
Chr20:31820129
MYLK2K19RHypertrophic cardiomyopathy 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr20:30407938
GRCh38:
Chr20:31820135
MYLK2P21Lnot providedUncertain significance
(Jun 6, 2017)
criteria provided, single submitter
31.
GRCh37:
Chr20:30407944
GRCh38:
Chr20:31820141
MYLK2G23DHypertrophic cardiomyopathy 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr20:30407947
GRCh38:
Chr20:31820144
MYLK2P24HInborn genetic diseasesUncertain significance
(May 30, 2023)
criteria provided, single submitter
33.
GRCh37:
Chr20:30407950
GRCh38:
Chr20:31820147
MYLK2T25IHypertrophic cardiomyopathy 1Uncertain significance
(Aug 24, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr20:30407951
GRCh38:
Chr20:31820148
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Jul 8, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr20:30407954
GRCh38:
Chr20:31820151
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Nov 27, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr20:30407960
GRCh38:
Chr20:31820157
MYLK2Inborn genetic diseasesLikely benign
(Mar 9, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr20:30407961
GRCh38:
Chr20:31820158
MYLK2P29THypertrophic cardiomyopathy 1Uncertain significance
(May 6, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr20:30407972
GRCh38:
Chr20:31820169
MYLK2Inborn genetic diseasesLikely benign
(Feb 11, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr20:30407972-30407973
GRCh38:
Chr20:31820169-31820170
MYLK2G33RHypertrophic cardiomyopathy 1Uncertain significance
(Mar 15, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr20:30407973
GRCh38:
Chr20:31820170
MYLK2G33WHypertrophic cardiomyopathy 1Uncertain significance
(Jun 16, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr20:30407975
GRCh38:
Chr20:31820172
MYLK2Hypertrophic cardiomyopathy 1Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr20:30407978
GRCh38:
Chr20:31820175
MYLK2Inborn genetic diseases, not specified, not provided,
Cardiomyopathy, Hypertrophic cardiomyopathy 1
Benign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr20:30407981
GRCh38:
Chr20:31820178
MYLK2D35EInborn genetic diseases, Hypertrophic cardiomyopathy 1Uncertain significance
(Feb 8, 2023)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr20:30407981
GRCh38:
Chr20:31820178
MYLK2not specifiedLikely benign
(Jun 26, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr20:30407987
GRCh38:
Chr20:31820184
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Mar 9, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr20:30407992
GRCh38:
Chr20:31820189
MYLK2P39Lnot provided, Hypertrophic cardiomyopathy 1Uncertain significance
(Mar 17, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr20:30407994
GRCh38:
Chr20:31820191
MYLK2D40HHypertrophic cardiomyopathy 1Uncertain significance
(Jul 23, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr20:30408001
GRCh38:
Chr20:31820198
MYLK2K42RHypertrophic cardiomyopathy 1, Inborn genetic diseasesUncertain significance
(Jun 26, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr20:30408002
GRCh38:
Chr20:31820199
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Sep 28, 2018)
criteria provided, single submitter
50.
GRCh37:
Chr20:30408010
GRCh38:
Chr20:31820207
MYLK2P45Lnot provided, Hypertrophic cardiomyopathy 1, Stroke
Uncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr20:30408011
GRCh38:
Chr20:31820208
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(May 27, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr20:30408022
GRCh38:
Chr20:31820219
MYLK2T49IInborn genetic diseasesUncertain significance
(Nov 14, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr20:30408032
GRCh38:
Chr20:31820229
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Sep 19, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr20:30408033
GRCh38:
Chr20:31820230
MYLK2D53Nnot specified, not provided, Hypertrophic cardiomyopathy 1,
Inborn genetic diseases
Conflicting interpretations of pathogenicity
(May 8, 2023)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr20:30408037
GRCh38:
Chr20:31820234
MYLK2A54DInborn genetic diseasesUncertain significance
(Sep 26, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr20:30408037
GRCh38:
Chr20:31820234
MYLK2A54VHypertrophic cardiomyopathy 1Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr20:30408038
GRCh38:
Chr20:31820235
MYLK2Inborn genetic diseasesLikely benign
(Dec 1, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr20:30408042
GRCh38:
Chr20:31820239
MYLK2A56fsnot providedUncertain significance
(Jan 30, 2023)
criteria provided, single submitter
59.
GRCh37:
Chr20:30408043
GRCh38:
Chr20:31820240
MYLK2A56VCardiomyopathyUncertain significance
(Aug 25, 2017)
criteria provided, single submitter
60.
GRCh37:
Chr20:30408044
GRCh38:
Chr20:31820241
MYLK2Inborn genetic diseasesLikely benign
(Nov 27, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr20:30408048
GRCh38:
Chr20:31820245
MYLK2A58THypertrophic cardiomyopathy 1Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr20:30408049
GRCh38:
Chr20:31820246
MYLK2A58Dnot specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 1, Hypertrophic cardiomyopathy
Benign/Likely benign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr20:30408060
GRCh38:
Chr20:31820257
MYLK2G62RHypertrophic cardiomyopathy 1Uncertain significance
(Oct 31, 2021)
criteria provided, single submitter
64.
GRCh37:
Chr20:30408063
GRCh38:
Chr20:31820260
MYLK2D63NHypertrophic cardiomyopathy 1Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
65.
GRCh37:
Chr20:30408063
GRCh38:
Chr20:31820260
MYLK2D63YHypertrophic cardiomyopathy 1Uncertain significance
(Jul 11, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr20:30408065
GRCh38:
Chr20:31820262
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Aug 24, 2019)
criteria provided, single submitter
67.
GRCh37:
Chr20:30408067
GRCh38:
Chr20:31820264
MYLK2G64AHypertrophic cardiomyopathy 1, not providedUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr20:30408070
GRCh38:
Chr20:31820267
MYLK2T65Inot provided, Hypertrophic cardiomyopathy 1Conflicting interpretations of pathogenicity
(Aug 16, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr20:30408080
GRCh38:
Chr20:31820277
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Jul 19, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr20:30408082
GRCh38:
Chr20:31820279
MYLK2P69HInborn genetic diseasesUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr20:30408084
GRCh38:
Chr20:31820281
MYLK2S70THypertrophic cardiomyopathy 1Uncertain significance
(Apr 21, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr20:30408099
GRCh38:
Chr20:31820296
MYLK2G75SHypertrophic cardiomyopathy 1Uncertain significance
(Aug 3, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr20:30408100
GRCh38:
Chr20:31820297
MYLK2G75DHypertrophic cardiomyopathy 1Uncertain significance
(Jun 11, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr20:30408102
GRCh38:
Chr20:31820299
MYLK2P76Snot providedUncertain significance
(Jun 24, 2013)
criteria provided, single submitter
75.
GRCh37:
Chr20:30408103
GRCh38:
Chr20:31820300
MYLK2P76LHypertrophic cardiomyopathy 1Uncertain significance
(Dec 21, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr20:30408119
GRCh38:
Chr20:31820316
MYLK2D81EHypertrophic cardiomyopathy 1Uncertain significance
(Mar 25, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr20:30408120-30408121
GRCh38:
Chr20:31820317-31820318
MYLK2R82fsHypertrophic cardiomyopathy 1Uncertain significance
(Jul 14, 2021)
criteria provided, single submitter
78.
GRCh37:
Chr20:30408125
GRCh38:
Chr20:31820322
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Feb 12, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr20:30408125
GRCh38:
Chr20:31820322
MYLK2not providedLikely benign
(Jul 23, 2019)
criteria provided, single submitter
80.
GRCh37:
Chr20:30408126
GRCh38:
Chr20:31820323
MYLK2G84RHypertrophic cardiomyopathy 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
81.
GRCh37:
Chr20:30408128
GRCh38:
Chr20:31820325
MYLK2Inborn genetic diseasesLikely benign
(Apr 26, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr20:30408130
GRCh38:
Chr20:31820327
MYLK2G85EInborn genetic diseases, not specified, not provided
Conflicting interpretations of pathogenicity
(Jun 27, 2022)
criteria provided, conflicting interpretations
83.
GRCh37:
Chr20:30408131
GRCh38:
Chr20:31820328
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Jun 7, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr20:30408131
GRCh38:
Chr20:31820328
MYLK2Inborn genetic diseasesLikely benign
(Oct 2, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr20:30408134
GRCh38:
Chr20:31820331
MYLK2Inborn genetic diseases, not provided, Hypertrophic cardiomyopathy 1
Likely benign
(Dec 23, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr20:30408135
GRCh38:
Chr20:31820332
MYLK2A87TInborn genetic diseases, Hypertrophic cardiomyopathy 1Uncertain significance
(Mar 12, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr20:30408136
GRCh38:
Chr20:31820333
MYLK2A87Vnot specified, not provided, Hypertrophic cardiomyopathy 1
Conflicting interpretations of pathogenicity
(Feb 6, 2023)
criteria provided, conflicting interpretations
88.
GRCh37:
Chr20:30408137
GRCh38:
Chr20:31820334
MYLK2Inborn genetic diseases, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 1
Likely benign
(Aug 7, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr20:30408141
GRCh38:
Chr20:31820338
MYLK2G89CInborn genetic diseasesUncertain significance
(Oct 6, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr20:30408142
GRCh38:
Chr20:31820339
MYLK2G89Dnot specified, Cardiomyopathy, Hypertrophic cardiomyopathy 1
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr20:30408143
GRCh38:
Chr20:31820340
MYLK2Inborn genetic diseases, Hypertrophic cardiomyopathy 1Likely benign
(Oct 2, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr20:30408144
GRCh38:
Chr20:31820341
MYLK2S90GHypertrophic cardiomyopathy 1Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr20:30408147
GRCh38:
Chr20:31820344
MYLK2A91SInborn genetic diseasesUncertain significance
(Jul 10, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr20:30408153
GRCh38:
Chr20:31820350
MYLK2P93Tnot specifiedUncertain significance
(Apr 11, 2012)
criteria provided, single submitter
95.
GRCh37:
Chr20:30408155
GRCh38:
Chr20:31820352
MYLK2Inborn genetic diseasesLikely benign
(Apr 19, 2021)
criteria provided, single submitter
96.
GRCh37:
Chr20:30408157
GRCh38:
Chr20:31820354
MYLK2P94RHypertrophic cardiomyopathy 1Uncertain significancecriteria provided, single submitter
97.
GRCh37:
Chr20:30408157
GRCh38:
Chr20:31820354
MYLK2P94Lnot specified, not provided, Hypertrophic cardiomyopathy 1
Likely benign
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr20:30408158
GRCh38:
Chr20:31820355
MYLK2Hypertrophic cardiomyopathy 1Likely benign
(Sep 1, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr20:30408160
GRCh38:
Chr20:31820357
MYLK2A95Enot specified, not provided, Cardiomyopathy,
Hypertrophic cardiomyopathy 1
Benign/Likely benign
(Oct 28, 2022)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr20:30408163
GRCh38:
Chr20:31820360
MYLK2A96VHypertrophic cardiomyopathy 1Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
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