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Items: 10

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr20:80198-62908674
GRCh38:
Chr20:99557-64277321
PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SNORD12C, RNU105B, SNORA71B, SNORA71A, SNORD57, SNORD56, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, LINC00652, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, LINC01749, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, LINC01260, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, C20orf57, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, LINC00261, ZSWIM3, WFDC10A, LINC01620, BANF2, NANP, FAM83C-AS1, MACROD2-IT1, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, LINC00028, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, LOC149684, ADIG, GTSF1L, WFDC5, APCDD1L-DT, GNAS-AS1, PRNT, LINC00654, SHLD1, NOL4L-DT, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, LINC00656, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB128, MIR1-1HG-AS1, WFDC11, WFDC9, WFDC10B, C20orf204, LINC00494, LINC01270, C20orf197, MIR646HG, SIRPB2, LOC284788, LOC284798, FAM182A, MIR663AHG, C20orf203, LINC01734, LOC339593, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, LOC388780, SMIM26, EFCAB8, SNHG17, FAM209B, SPINT4, DEFB132, C20orf202, LINC01721, LINC01597, MIR103A2, MIR1-1, MIR124-3, MIR133A2, MIR296, LINC00851, ZFAS1, GDF5-AS1, MIR499A, LOC613266, RAD21L1, LOC643406, NKX2-4, NORAD, SNORA71E, SNORA51, SNORA60, SNORA71C, SNORA71D, SNORD12, SNORD17, SNORD86, SNORD110, MIR644A, MIR645, MIR646, MIR647, MIR663A, PDYN-AS1, LINC01433, LINC02871, LINC00687, FAM182B, LOC729296, SYS1-DBNDD2, HAR1A, HAR1B, SNORD119, UCKL1-AS1, SNORD12B, MIR298, MIR941-1, MIR941-4, MIR941-2, MIR941-3, SLCO4A1-AS1, LOC100128028, LOC100128310, SCP2D1-AS1, LOC100128988, C20orf181, LOC100130264, LOC100130373, LOC100130587, ZNF840P, SNAP25-AS1, LOC100131496, DPH3P1, UBOX5-AS1, LOC100134868, LINC00029, LINC01056, FLJ16779, LINC01432, LINC00653, LOC100287792, TMEM239, LOC100291105, MIR1289-1, MIR1914, MIR1292, MIR1302-5, MIR1257, MIR1825, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3195, MIR3192, MIR4325, MIR3194, MIR3193, MIR4326, MIR3196, MTRNR2L3, MIR3646, MIR3616, MIR3617, LINC01723, ISM1-AS1, LINC01370, LINC01431, MHENCR, OSER1-DT, STK4-AS1, PELATON, LOC100506175, PHACTR3-AS1, LINC01718, NRSN2-AS1, SDCBP2-AS1, LINC00658, EPPIN-WFDC6, TGIF2-RAB5IF, FKBP1A-SDCBP2, RTEL1-TNFRSF6B, SLMO2-ATP5E, STX16-NPEPL1, MIR499B, MIR548O2, MIR4756, MIR4758, MIR4532, MIR4533, MIR4755, MIR548AG2, LINC00659, LINC00489, HM13-AS1, PLCB1-IT1, TRERNA1, LINC01523, OGFR-AS1, MMP24OS, RALY-AS1, LOC101926889, LOC101926935, LINC01733, DLGAP4-AS1, PLCG1-AS1, LOC101927138, LOC101927159, HNF4A-AS1, LINC01430, LOC101927377, LINC01522, LINC01275, LINC01273, CEBPB-AS1, LINC01271, ADNP-AS1, LINC01429, LINC01524, LOC101927770, LINC01441, LOC101927932, LOC101928048, LAMA5-AS1, ZBTB46-AS1, SIRPG-AS1, LINC01730, LINC01729, MCM8-AS1, CASC20, LINC01428, LINC01751, LINC01706, LAMP5-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, DTD1-AS1, CFAP61-AS1, KIZ-AS1, LINC01726, LINC01727, LINC01427, LNCNEF, LOC101929698, ZNF341-AS1, MIR6812, MIR6869, MIR6870, MIR8062, MIR6813, MIR6871, LOC102606466, LINC01754, CSE1L-AS1, LINC01440, BMP7-AS1, ZNF337-AS1, CEP250-AS1, ABALON, MIR941-5, LOC105369209, LOC105372493, LINC01713, LINC00237, LINC01747, LOC105372576, LOC105372582, FAM242A, BCL2L1-AS1, LINC01746, LINC01728, LOC105372631, LOC105372633, LOC105372653, LOC105372672, LINC01716, LOC105372695, KCNQ2-AS1, LINC01742, LOC105379477, FAM242B, NKILA, KCNK15-AS1, LOC106799846, LOC106992256, LOC107080552, LOC107303343, LOC107457602, LOC107985433, LOC107987276, LOC108167311, LOC108167312, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC108254667, LOC108281116, LOC108353820, LOC109363676, LOC109461473, LOC109461476, LOC109504727, LOC109621227, SNORA117, SNORD154, SLC12A5-AS1, LOC110120877, LOC110120914, LOC110120921, LOC110120949, LOC110121317, LOC110121321, LOC110121332, LOC110121338, LOC110121370, LOC110121454, LOC110121469, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC110594337, MMP24-AS1-EDEM2, LOC111240478, LOC111240479, LOC111365159, LOC111365169, LOC111365189, LOC111365218, LOC111413042, LOC111465001, LOC111562371, LOC112268269, 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, MIR12122, 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, ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5
See casesPathogenic
(Oct 19, 2010)
no assertion criteria providedVCV000146596
2.
GRCh37:
Chr20:9792081-37945599
GRCh38:
Chr20:9811433-39316956
JAG1, AHCY, ASIP, BCL2L1, BFSP1, BPI, ENTPD6, CST1, CST2, CST3, CST4, CST5, DNMT3B, E2F1, EPB41L1, FOXS1, GGT7, GHRH, GSS, HCK, FOXA2, ID1, INSM1, EIF6, LBP, NKX2-2, NNAT, PAX1, PCSK2, PLAGL2, PYGB, RBL1, RPN2, RRBP1, SNAP25, SNRPB2, SNTA1, SPAG4, SRC, SSTR4, TGM2, THBD, ZNF133, MKKS, GDF5, CST7, EIF2S2, CPNE1, NFS1, CBFA2T2, KIF3B, RBM39, TTI1, TM9SF4, GINS1, CST8, RBM12, MYL9, SEC23B, PROCR, POLR3F, RBBP9, MMP24, BLCAP, DSTN, CEP250, PXMP4, XRN2, DLGAP4, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, NCOA6, POFUT1, FLRT3, SAMHD1, AAR2, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, SNORA71B, SNORA71A, SNX5, REM1, LINC00652, NXT1, VSX1, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ESF1, ERGIC3, CDK5RAP1, RIN2, DZANK1, UQCC1, SPTLC3, KIF16B, TASP1, EDEM2, KIZ, ACSS2, RAB5IF, CTNNBL1, OTOR, APMAP, PAK5, RALGAPB, RALGAPA2, KAT14, SLC24A3, NDRG3, MYH7B, TP53INP2, RPRD1B, OVOL2, TGIF2, DHX35, MANBAL, NAPB, ANKEF1, NECAB3, GZF1, NDUFAF5, ACTR5, SYNDIG1, DSN1, BPIFB2, SEL1L2, HM13, PDRG1, FAM83D, DYNLRB1, ITCH, C20orf57, SLA2, ACSS1, MAP1LC3A, COX4I2, ZNF341, MYLK2, KIAA1755, GGTLC1, MGME1, DTD1, BPIFB1, DEFB118, VSTM2L, SNHG11, SLX4IP, CSTL1, CST9L, CST9, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, SLC32A1, BPIFA2, NOL4L, MROH8, CCM2L, SOGA1, TLDC2, SUN5, MACROD2, ROMO1, LINC00261, BANF2, NANP, FAM83C-AS1, MACROD2-IT1, SCP2D1, ISM1, C20orf173, LINC00028, CST11, CNBD2, LOC149684, ADIG, NOL4L-DT, COMMD7, BPIFB4, TTLL9, ACTL10, ASXL1, LINC00656, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, LOC284788, LOC284798, FAM182A, MIR663AHG, C20orf203, LINC01734, LOC339593, ARHGAP40, XKR7, BPIFB3, SMIM26, EFCAB8, SNHG17, LINC01721, LINC01597, LINC00851, GDF5-AS1, MIR499A, LOC613266, NKX2-4, NORAD, SNORA71E, SNORA60, SNORA71C, SNORA71D, SNORD17, MIR644A, MIR663A, LINC02871, LINC00687, FAM182B, SCP2D1-AS1, LOC100130264, LOC100130373, SNAP25-AS1, LOC100134868, LINC01432, LINC00653, LOC100287792, MIR1289-1, MIR1825, PET117, MACROD2-AS1, MIR3192, MIR3193, LINC01723, ISM1-AS1, LINC01431, TGIF2-RAB5IF, MIR499B, MIR548O2, MIR4755, LINC00489, HM13-AS1, MMP24OS, RALY-AS1, LOC101926889, LOC101926935, LINC01733, DLGAP4-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, DTD1-AS1, CFAP61-AS1, KIZ-AS1, LINC01726, LINC01727, LINC01427, LNCNEF, LOC101929698, ZNF341-AS1, MIR6870, LOC102606466, ZNF337-AS1, CEP250-AS1, ABALON, LINC00237, LINC01747, LOC105372576, LOC105372582, FAM242A, BCL2L1-AS1, LINC01746, LOC105379477, FAM242B, LOC107985433, LOC107987276, LOC108228200, LOC108228202, LOC108254667, LOC109461476, LOC110120877, LOC110120921, LOC110120949, LOC110121317, LOC110121332, LOC110121338, LOC110121477, LOC110121484, LOC110121494, LOC110121497, MMP24-AS1-EDEM2, 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
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059195
3.
GRCh37:
Chr20:32020169-35450284
GRCh38:
Chr20:33432363-36821881
See casesPathogenic
(Jul 30, 2009)
no assertion criteria providedVCV000146117
4.
GRCh37:
Chr20:33825749-46260562
GRCh38:
Chr20:35237946-47631818
ADA, BPI, CD40, EPB41L1, EYA2, GHRH, HNF4A, EIF6, KCNS1, LBP, MMP9, MYBL2, NNAT, PI3, PLCG1, PLTP, CTSA, RBL1, RPN2, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SPAG4, SRC, STK4, TGM2, TNNC2, TOP1, YWHAB, GDF5, NCOA3, MATN4, CCN5, CPNE1, NFS1, RBM39, TTI1, MAFB, ACOT8, SGK2, RBM12, MYL9, WFDC2, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, UBE2C, PTPRT, PKIG, CEP250, RBPJL, DLGAP4, ZHX3, ZMYND8, SAMHD1, AAR2, L3MBTL1, PPP1R16B, SNORA71B, SNORA71A, TP53TG5, SLC35C2, IFT52, PHF20, SCAND1, OSER1, PIGT, ERGIC3, UQCC1, ZNF334, DBNDD2, RAB5IF, CTNNBL1, EPPIN, RALGAPB, JPH2, NDRG3, SLC12A5, NCOA5, RPRD1B, TGIF2, KCNK15, DHX35, MANBAL, ELMO2, ZNF335, PCIF1, CDH22, SLC13A3, LPIN3, GDAP1L1, LINC01260, TTPAL, ACTR5, DSN1, PABPC1L, SLC2A10, FAM83D, SLA2, CHD6, TOX2, KIAA1755, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, TP53RK, DNTTIP1, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, FAM83C, SLC32A1, WFDC3, MROH8, SOGA1, TLDC2, RIMS4, ROMO1, NEURL2, ZSWIM3, WFDC10A, LINC01620, FAM83C-AS1, WFDC6, C20orf173, CNBD2, R3HDML, LOC149684, ADIG, GTSF1L, WFDC5, WFDC13, WFDC11, WFDC9, WFDC10B, LINC01734, ARHGAP40, SNHG17, SPINT4, GDF5-AS1, NORAD, SNORA71E, SNORA60, SNORA71C, SNORA71D, SYS1-DBNDD2, LOC100128028, LOC100128988, LOC100130373, ZNF840P, LOC100131496, LOC100287792, MIR1289-1, MIR3646, MIR3616, MIR3617, LINC01370, OSER1-DT, STK4-AS1, EPPIN-WFDC6, TGIF2-RAB5IF, MIR548O2, LINC00489, MMP24OS, DLGAP4-AS1, PLCG1-AS1, LOC101927138, LOC101927159, HNF4A-AS1, LINC01430, LOC101927377, MIR6812, MIR6871, LINC01754, CEP250-AS1, LINC01746, LINC01728, LOC105372631, LOC105372633, KCNK15-AS1, LOC106992256, LOC107080552, LOC107303343, LOC108167311, LOC108167312, LOC108254667, LOC108353820, LOC109461476, SNORD154, SLC12A5-AS1, LOC110121317, LOC110121321, MMP24-AS1-EDEM2, LOC111365218, LOC111562371, LOC112694707, LOC112694708, LOC112694709, LOC112694710, LOC112694711, LOC112694714, LOC112694715, LOC112694716, LOC112694717, LOC112694718, LOC113960609, LOC113960610, LOC113960611, LOC114004352, LOC116286206, LOC116286207, LOC116286208
See casesPathogenic
(Dec 17, 2012)
no assertion criteria providedVCV000152212
5.
GRCh37:
Chr20:35177147-35184110
GRCh38:
Chr20:36548744-36555707
MYL9, DLGAP4-AS1Visceral myopathyLikely pathogenic
(Aug 31, 2017)
no assertion criteria providedVCV000437907
6.
GRCh37:
Chr20:63244-62961294
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5-AS1, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, SCP2D1-AS1, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000604423
7.
GRCh37:
Chr20:63244-62948788
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5-AS1, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, SCP2D1-AS1, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000604422
8.
GRCh37:
Chr20:63244-62912463
NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, SCP2D1-AS1, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1, ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5-AS1, MIR499A, RAD21L1
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000604421
9.
GRCh37:
Chr20:61569-62915555
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5-AS1, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, SCP2D1-AS1, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000443340
10.
GRCh37:
Chr20:61569-62915555
TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5-AS1, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, SCP2D1-AS1, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1, ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000443339
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