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Items: 1 to 100 of 385

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr20:80198-62908674
GRCh38:
Chr20:99557-64277321
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, 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, ZNF334, ZNF335, ZNF337, ZNF337-AS1, ZNF341, ZNF341-AS1, ZNF343, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3, 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, MIR4532, 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, 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, SOGA1, SOX12, 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, C20orf57, C20orf85, 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, 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, LOC100128028, LOC100128310, LOC100128988, LOC100130587, LOC100131496, LOC100134868, LOC100287792, LOC101926889, LOC101926935, LOC101927159, LOC101927377, LOC101927770, LOC101927932, LOC101928048, LOC101929413, LOC101929698, LOC102606466, LOC102723636, LOC105369209, LOC105372493, LOC105372576, LOC105372582, LOC105372631, LOC105372633, LOC105372653, LOC105372672, LOC105372695, LOC105372698, LOC105379477, LOC106799846, LOC106992256, LOC107080552, LOC107303343, LOC107457602, LOC107985388, LOC107985433, LOC107987276, 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, LOC121853009, 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
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
2.
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, C20orf85, CABLES2, CASS4, CBLN4, CD40, CDH22, CDH26, CDH4, CEBPB, CEBPB-AS1, CHRNA4, 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, LOC100128028, LOC100128310, LOC100130587, LOC100131496, LOC101927377, LOC101927770, LOC101927932, LOC101928048, LOC105369209, LOC105372631, LOC105372633, LOC105372653, LOC105372672, LOC105372695, LOC105372698, 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, LOC121853009, 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, MIR4532, 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, ZNF334, ZNF335, ZNF512B, ZNF831, ZNF840P, ZNFX1, ZSWIM1, ZSWIM3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
3.
GRCh37:
Chr20:51852704-62915555
GRCh38:
Chr20:53236165-64284202
ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, AURKA, BCAS1, BHLHE23, BIRC7, BMP7, BMP7-AS1, C20orf181, C20orf204, C20orf85, CABLES2, CASS4, CBLN4, CDH26, CDH4, CHRNA4, 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, LOC101927770, LOC101927932, LOC101928048, LOC105369209, LOC105372672, LOC105372695, LOC105372698, 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, MIR4532, 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, 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, ZNF512B, ZNF831
See casesLikely pathogenic
(Sep 9, 2013)
no assertion criteria provided
4.
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, C20orf85, CABLES2, CASS4, CDH26, CDH4, CHRNA4, 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, 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, MIR4532, 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 casesPathogenic
(Jan 3, 2012)
no assertion criteria provided
5.
GRCh37:
Chr20:55804471-62904442
GRCh38:
Chr20:57229415-64273089
ABHD16B, ADRM1, ANKRD60, APCDD1L, APCDD1L-DT, ARFGAP1, ARFRP1, ATP5F1E, BHLHE23, BIRC7, BMP7, C20orf181, C20orf204, C20orf85, CABLES2, CDH26, CDH4, CHRNA4, 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, 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, MIR4532, 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 casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
6.
GRCh37:
Chr20:57617021-62908674
GRCh38:
Chr20:59041966-64277321
ABHD16B, ADRM1, ARFGAP1, ARFRP1, BHLHE23, BIRC7, C20orf181, C20orf204, CABLES2, CDH26, CDH4, CHRNA4, COL20A1, COL9A3, CRMA, DIDO1, DNAJC5, EDN3, EEF1A2, FAM217B, FLJ16779, FNDC11, GATA5, GID8, GMEB2, HAR1A, HAR1B, HELZ2, HRH3, KCNQ2, KCNQ2-AS1, LAMA5, LAMA5-AS1, LIME1, LINC00029, LINC00659, LINC01056, LINC01718, LINC01749, LINC02910, LINC02970, LKAAEAR1, LOC100128310, LOC100130587, LOC101928048, LOC105369209, LOC105372698, LOC108281116, LOC110594337, LOC112268269, LOC112694725, LOC112694726, LOC112694727, LOC112694728, LOC114004357, LOC114803474, LOC120285836, LOC121627913, LOC121627914, LOC121627915, LOC121627916, LOC121853017, LOC121853018, LOC121853019, LOC121853020, LOC125387312, LOC125387313, LOC125387316, LOC125387317, LOC125387318, LOC125387319, LOC125387320, 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, MIR3195, MIR3196, MIR4326, MIR4533, MIR4758, MIR548AG2, MIR646, MIR646HG, MIR647, MIR6813, MIR941-1, MIR941-2, MIR941-3, MIR941-4, MIR941-5, MRGBP, MTG2, MYT1, NKAIN4, NPBWR2, NTSR1, OGFR, OGFR-AS1, OPRL1, OSBPL2, PCMTD2, PHACTR3, PHACTR3-AS1, PPDPF, PPP1R3D, PRELID3B, PRPF6, PSMA7, PTK6, RBBP8NL, RGS19, RPS21, RTEL1, RTEL1-TNFRSF6B, SAMD10, SLC17A9, SLC2A4RG, SLCO4A1, SLCO4A1-AS1, SLCO4A1-AS2, SLMO2-ATP5E, SNORA117, SOX18, SRMS, SS18L1, STMN3, SYCP2, TAF4, TCEA2, TCFL5, TNFRSF6B, TPD52L2, UCKL1, UCKL1-AS1, YTHDF1, ZBTB46, ZBTB46-AS1, ZGPAT, ZNF512B, ZNF831
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
7.
GRCh37:
Chr20:59901605-62908679
GRCh38:
Chr20:61326549-64277326
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
8.
GRCh38:
Chr20:61800345-63644611
not specifiedUncertain significance
(Sep 28, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr20:61030287-62470844
GRCh38:
Chr20:62455231-63839491
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr20:61039620
GRCh38:
Chr20:62464564
GATA5not providedLikely benign
(Mar 31, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr20:61039662
GRCh38:
Chr20:62464606
GATA5not providedLikely benign
(Sep 16, 2018)
criteria provided, single submitter
12.
GRCh37:
Chr20:61039904
GRCh38:
Chr20:62464848
GATA5not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr20:61039905
GRCh38:
Chr20:62464849
GATA5L394Pnot providedUncertain significance
(Jul 1, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr20:61039907
GRCh38:
Chr20:62464851
GATA5not providedLikely benign
(May 24, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr20:61039908
GRCh38:
Chr20:62464852
GATA5A393Vnot providedUncertain significance
(Dec 23, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr20:61039911
GRCh38:
Chr20:62464855
GATA5C392Ynot specified, not providedUncertain significance
(Dec 6, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr20:61039913
GRCh38:
Chr20:62464857
GATA5W391CInborn genetic diseases, not providedUncertain significance
(Apr 20, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr20:61039916
GRCh38:
Chr20:62464860
GATA5not providedLikely benign
(Aug 23, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr20:61039917
GRCh38:
Chr20:62464861
GATA5A390Vnot providedUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr20:61039926
GRCh38:
Chr20:62464870
GATA5R387Hnot providedUncertain significance
(Apr 15, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr20:61039927
GRCh38:
Chr20:62464871
GATA5R387Cnot providedUncertain significance
(Oct 23, 2022)
criteria provided, multiple submitters, no conflicts
22.
GRCh37:
Chr20:61039934
GRCh38:
Chr20:62464878
GATA5not providedLikely benign
(Dec 15, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr20:61039937
GRCh38:
Chr20:62464881
GATA5R383SInborn genetic diseasesLikely benign
(Nov 18, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr20:61039937
GRCh38:
Chr20:62464881
GATA5R383Snot providedUncertain significance
(Oct 27, 2021)
criteria provided, single submitter
25.
GRCh37:
Chr20:61039938-61039939
GRCh38:
Chr20:62464882-62464883
GATA5R383fsnot providedUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr20:61039939
GRCh38:
Chr20:62464883
GATA5R383Gnot providedUncertain significance
(Apr 12, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr20:61039955
GRCh38:
Chr20:62464899
GATA5S377Rnot providedUncertain significance
(Dec 9, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr20:61039955
GRCh38:
Chr20:62464899
GATA5not providedLikely benign
(Mar 22, 2021)
criteria provided, single submitter
29.
GRCh37:
Chr20:61039958-61039959
GRCh38:
Chr20:62464902-62464903
GATA5P376Lnot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr20:61039958-61039959
GRCh38:
Chr20:62464902-62464903
GATA5P376Rnot providedUncertain significance
(Feb 9, 2023)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr20:61039958
GRCh38:
Chr20:62464902
GATA5not provided, Congenital heart defects, multiple types, 5Benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr20:61039960
GRCh38:
Chr20:62464904
GATA5P376Snot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr20:61039962
GRCh38:
Chr20:62464906
GATA5A375Gnot provided, Inborn genetic diseasesUncertain significance
(Apr 25, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr20:61039964
GRCh38:
Chr20:62464908
GATA5not providedLikely benign
(Jun 25, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr20:61039965
GRCh38:
Chr20:62464909
GATA5T374Mnot provided, Inborn genetic diseasesUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr20:61039969
GRCh38:
Chr20:62464913
GATA5S373Tnot providedUncertain significance
(Aug 13, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr20:61039971
GRCh38:
Chr20:62464915
GATA5P372Rnot providedUncertain significance
(Nov 8, 2021)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr20:61039990
GRCh38:
Chr20:62464934
GATA5P366Snot providedUncertain significance
(Sep 24, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr20:61039993
GRCh38:
Chr20:62464937
GATA5E365Knot providedLikely benign
(Aug 22, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr20:61039998
GRCh38:
Chr20:62464942
GATA5K363RCongenital heart defects, multiple types, 5, not providedConflicting interpretations of pathogenicity
(Sep 20, 2022)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr20:61040003
GRCh38:
Chr20:62464947
GATA5not providedLikely benign
(May 13, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr20:61040006
GRCh38:
Chr20:62464950
GATA5not providedUncertain significance
(Jul 1, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr20:61040011
GRCh38:
Chr20:62464955
GATA5H359Nnot providedUncertain significance
(Feb 6, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr20:61040014
GRCh38:
Chr20:62464958
GATA5G358SInborn genetic diseases, not providedUncertain significance
(Sep 25, 2022)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr20:61040015
GRCh38:
Chr20:62464959
GATA5not providedLikely benign
(Sep 3, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr20:61040019
GRCh38:
Chr20:62464963
GATA5A356Gnot providedLikely benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr20:61040029
GRCh38:
Chr20:62464973
GATA5D353Nnot providedUncertain significance
(Dec 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr20:61040041
GRCh38:
Chr20:62464985
GATA5G349Snot providedUncertain significance
(Oct 24, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr20:61040050
GRCh38:
Chr20:62464994
GATA5not providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr20:61040051
GRCh38:
Chr20:62464995
GATA5not providedLikely benign
(Oct 13, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr20:61040062
GRCh38:
Chr20:62465006
GATA5not providedLikely benign
(Jun 11, 2021)
criteria provided, single submitter
52.
GRCh37:
Chr20:61040064
GRCh38:
Chr20:62465008
GATA5not providedLikely benign
(Apr 8, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr20:61040066
GRCh38:
Chr20:62465010
GATA5not providedLikely benign
(Oct 29, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr20:61040095
GRCh38:
Chr20:62465039
GATA5not providedLikely benign
(Apr 4, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr20:61040125
GRCh38:
Chr20:62465069
GATA5not providedBenign
(Sep 11, 2018)
criteria provided, single submitter
56.
GRCh37:
Chr20:61040190
GRCh38:
Chr20:62465134
GATA5not providedLikely benign
(Sep 29, 2018)
criteria provided, single submitter
57.
GRCh37:
Chr20:61040313
GRCh38:
Chr20:62465257
GATA5not providedBenign
(Sep 6, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr20:61040381
GRCh38:
Chr20:62465325
GATA5not providedLikely benign
(Jul 26, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr20:61040382
GRCh38:
Chr20:62465326
GATA5not providedLikely benign
(Oct 14, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr20:61040383
GRCh38:
Chr20:62465327
GATA5not providedLikely benign
(Mar 27, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr20:61040403
GRCh38:
Chr20:62465347
GATA5A344Vnot providedUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr20:61040404
GRCh38:
Chr20:62465348
GATA5A344Tnot providedUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr20:61040412
GRCh38:
Chr20:62465356
GATA5P341Lnot providedUncertain significance
(Feb 17, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr20:61040420
GRCh38:
Chr20:62465364
GATA5C338*not providedUncertain significance
(May 4, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr20:61040432
GRCh38:
Chr20:62465376
GATA5not providedLikely benign
(Jun 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr20:61040433
GRCh38:
Chr20:62465377
GATA5A334Vnot providedUncertain significance
(Oct 5, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr20:61040434
GRCh38:
Chr20:62465378
GATA5A334Tnot providedUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr20:61040453
GRCh38:
Chr20:62465397
GATA5Congenital heart defects, multiple types, 5, not providedBenign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr20:61040458
GRCh38:
Chr20:62465402
GATA5T326Anot providedLikely benign
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr20:61040462
GRCh38:
Chr20:62465406
GATA5not providedLikely benign
(Mar 31, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr20:61040470
GRCh38:
Chr20:62465414
GATA5S322Gnot providedUncertain significance
(May 27, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr20:61040477
GRCh38:
Chr20:62465421
GATA5not providedLikely benign
(May 8, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr20:61040486
GRCh38:
Chr20:62465430
GATA5not providedLikely benign
(Feb 1, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr20:61040502
GRCh38:
Chr20:62465446
GATA5S311Lnot providedUncertain significance
(Sep 25, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr20:61040508
GRCh38:
Chr20:62465452
GATA5N309Tnot providedUncertain significance
(Apr 17, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr20:61040528
GRCh38:
Chr20:62465472
GATA5not providedLikely benign
(May 3, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr20:61040529
GRCh38:
Chr20:62465473
GATA5not providedLikely benign
(Jun 25, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr20:61040532
GRCh38:
Chr20:62465476
GATA5not providedLikely benign
(Aug 13, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr20:61040535
GRCh38:
Chr20:62465479
GATA5not providedLikely benign
(Apr 28, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr20:61040536
GRCh38:
Chr20:62465480
GATA5not providedLikely benign
(Oct 27, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr20:61040536
GRCh38:
Chr20:62465480
GATA5not providedLikely benign
(Oct 31, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr20:61040668
GRCh38:
Chr20:62465612
GATA5not providedBenign
(Sep 11, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr20:61040855
GRCh38:
Chr20:62465799
GATA5not providedLikely benign
(Sep 22, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr20:61040867
GRCh38:
Chr20:62465811
GATA5not providedLikely benign
(Oct 28, 2018)
criteria provided, single submitter
85.
GRCh37:
Chr20:61040870
GRCh38:
Chr20:62465814
GATA5not providedLikely benign
(Feb 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr20:61040879
GRCh38:
Chr20:62465823
GATA5not providedLikely benign
(Aug 21, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr20:61040885
GRCh38:
Chr20:62465829
GATA5not providedUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr20:61040886
GRCh38:
Chr20:62465830
GATA5not providedUncertain significance
(Jun 4, 2021)
criteria provided, single submitter
89.
GRCh37:
Chr20:61040912
GRCh38:
Chr20:62465856
GATA5not providedLikely benign
(Oct 26, 2021)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr20:61040918
GRCh38:
Chr20:62465862
GATA5not providedLikely benign
(Sep 11, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr20:61040922
GRCh38:
Chr20:62465866
GATA5P294Lnot providedUncertain significance
(Sep 17, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr20:61040928
GRCh38:
Chr20:62465872
GATA5R292Qnot providedUncertain significance
(Jul 29, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr20:61040934
GRCh38:
Chr20:62465878
GATA5R290Qnot providedUncertain significance
(Nov 29, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr20:61040936
GRCh38:
Chr20:62465880
GATA5not providedLikely benign
(May 3, 2021)
criteria provided, single submitter
95.
GRCh37:
Chr20:61040946
GRCh38:
Chr20:62465890
GATA5S286Tnot providedUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr20:61040949
GRCh38:
Chr20:62465893
GATA5E285Gnot providedUncertain significance
(May 14, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr20:61040951
GRCh38:
Chr20:62465895
GATA5K284Nnot providedUncertain significance
(Aug 13, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr20:61040951
GRCh38:
Chr20:62465895
GATA5Congenital heart defects, multiple types, 5, not providedBenign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr20:61040954
GRCh38:
Chr20:62465898
GATA5K283Nnot providedUncertain significance
(May 30, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr20:61040970
GRCh38:
Chr20:62465914
GATA5R278Qnot providedUncertain significance
(Nov 19, 2021)
criteria provided, single submitter
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