Annotation Detail
Information
- Associated Genes
- A1BG ACP5 ACTN4 AP2A1 TLE5 AKT2 AMH APLP1 APOC1 APOC2 APOC4 APOE KLK3 GET3 ATP1A3 ATP4A ATP5F1D AXL AZU1 BAX BCAT2 BCKDHA BCL3 HCN2 CEACAM1 BLVRB BSG BST2 C3 C5AR1 CA11 CACNA1A CALM3 CALR CAPNS1 CAPS CCNE1 CD22 CD33 SIGLEC6 CD37 CD70 CD79A ADGRE5 CDC34 CDKN2D CEACAM5 CEBPA CEBPG CGB3 CEACAM3 CEACAM7 CEACAM8 CEACAM4 CIRBP TBCB CKM AP2S1 CLC CLPTM1 CNN1 CNN2 COMP COX6B1 COX7A1 CRX CSNK1G2 NCAN CYP2A6 CYP2A7 CYP2A13 CYP2B6 CYP2F1 DAPK3 DBP CFD DHPS DMPK DMWD DNASE2 DNM2 DNMT1 ARID3A ECH1 EEF2 EFNA2 MEGF8 ELANE ELAVL1 ELAVL3 EMP3 ADGRE1 EPOR NR2F6 ERCC1 ERCC2 ERF FBL ETFB ETV2 FARSA FCAR FCER2 FCGRT FLT3LG FOSB FPR1 FPR2 FPR3 FTL FUT1 FUT2 FUT3 FUT5 FUT6 GAMT GCDH GDF1 GIPR GNA11 GNA15 GNG7 GPI GPR4 GPR32 FFAR1 FFAR3 GPR42 FFAR2 MKNK2 GPX4 GRIK5 GRIN2D ARHGAP35 GSK3A GTF2F1 GYS1 GZMM HAS1 FOXA3 HNRNPL HPN HRC PRMT1 DNAJB1 ICAM1 ICAM3 ICAM4 IL11 IL12RB1 ILF3 INSL3 INSR IRF3 JAK3 JUNB JUND KCNA7 KCNC3 KCNJ14 KCNN1 KCNN4 KIR2DL1 KIR2DL3 KIR2DL4 KIR2DS4 KIR3DL1 KIR3DL2 KLK1 KLK2 LAIR1 LAIR2 LDLR LGALS4 LGALS7 LHB LIG1 LIM2 LIPE LRP3 CYP4F3 BCAM LYL1 MAG MAN2B1 MATK RAB8A MAP3K10 MLLT1 MYO1F MYBPC2 GADD45B MYO9B HNRNPM CEACAM6 NDUFA3 NDUFA7 NDUFB7 NFIC NFIX NFKBIB NKG7 CNOT3 NOTCH3 NOVA2 NPAS1 NPHS1 NRTN NTF4 NUCB1 OAZ1 P2RY11 PAFAH1B3 PALM PDE4A PDE4C PEG3 PEPD PIK3R2 PIN1 PLAUR FXYD1 FXYD3 POLD1 POLR2E POLR2I POLRMT POU2F2 PPP2R1A PPP5C PRKACA PRKCG PKN1 PRKCSH MAP2K2 MAP2K7 PSPN PRRG2 KLK7 KLK6 KLK10 PRTN3 PSG1 PSG2 PSG3 PSG4 PSG5 PSG6 PSG7 PSG9 PSG11 PSMC4 PSMD8 PTBP1 PTGER1 PTGIR PTPRH PTPRS PVR NECTIN2 RAB3A RAD23A RELB UPF1 RFX1 RFX2 RPL18 RPL18A RPL28 MRPS12 RPS5 RPS9 RPS11 RPS15 RPS16 RPS19 RPS28 RRAS RTN2 RYR1 SAFB CLEC11A SCN1B CCL25 SELENOW SGTA SH3GL1 SLC1A5 SLC1A6 SLC5A5 SLC8A2 SMARCA4 SNAPC2 SNRNP70 SNRPA SNRPD2 SPIB STK11 AURKC STXBP2 SULT2B1 SULT2A1 SUPT5H SYT5 TBXA2R TCF3 PRDX2 TGFB1 THOP1 ICAM5 TLE2 TNNI3 TNNT1 TPM4 TRU-TCA1-1 TULP2 TYK2 TYROBP UBA52 NR1H2 UQCRFS1 USF2 VASP VAV1 XRCC1 ZFP36 ZNF8 ZNF14 ZNF708 ZNF17 ZNF20 ZNF28 ZNF43 ZNF45 ZNF69 ZNF221 ZNF85 ZNF90 ZNF91 ZNF99 ZNF222 ZNF121 ZNF132 ZNF134 ZNF135 ZNF136 ZNF146 ZNF154 ZNF155 ZNF175 ZNF177 ZNF180 ZNF208 ZNF223 ZNF224 ZNF225 ZNF226 ZNF227 ZNF112 ZNF229 ZNF230 MADCAM1 SF3A2 ELL SYMPK MIA CLPP DPF1 LTBP4 TEAD2 RANBP3 CYP4F2 PPFIA3 KHSRP PLA2G4C PLPP2 RFXANK EIF3G STX10 S1PR4 URI1 TNFSF14 TNFSF9 NAPA SIGLEC5 FCGBP AP1M1 AP3D1 PGLYRP1 F2RL3 ARHGEF1 PDCD5 DYRK1B LPAR2 RAB11B CRLF1 NUMBL CYTH2 S1PR2 ZNF235 TRIP10 LONP1 ZNF264 KCNK6 NCR1 MED26 HOMER3 IL27RA NAPSA GDF15 TECR ZNF254 GMFG RAB3D APBA3 IER2 KLK4 SAFB2 ZNF432 DHX34 GARRE1 ZNF536 KMT2B KEAP1 MED16 CHAF1A SH2D3A AP1M2 UBA2 SAE1 SUGP2 EBI3 ZNF256 DDX39A ZNF443 PLIN3 AKAP8 FSTL3 LILRB2 APC2 PAK4 B3GNT3 CLEC4M ABCA7 HMG20B KLF2 TUBB4A TMEM147 IFI30 TOMM40 TIMM44 CARM1 SEMA6B ZNF211 CHERP RNASEH2A RABAC1 SPINT2 KLF1 DLL3 CERS1 GIPC1 POP4 ZNF234 ZNF266 ZNF274 ZNF460 PPP1R13L POLR1G RUVBL2 LILRB1 HCST PNPLA6 KDELR1 UQCR11 LILRB5 ILVBL LILRB4 KLK11 TMED1 LILRA1 LILRB3 LILRA3 LILRA2 UPK1A HNRNPUL1 CLASRP KPTN SLC7A9 CDC37 MAP4K1 KLK8 CYP4F8 PNKP COPE U2AF2 ATF5 ZFP30 ZNF507 ADGRL1 PPP6R1 CARD8 SBNO2 SIRT2 MAST1 UNC13A KDM4B MAST3 SIPA1L3 FCHO1 CIC ZC3H4 ZFR2 SIN3B HAUS5 ARHGEF18 CRTC1 MAU2 PIP5K1C FBXO46 ETHE1 BRD4 RPL13A ARHGAP45 SYNGR4 LILRA4 PRG1 CASP14 ZIM2 CBLC NUP62 HSPBP1 PPP1R15A PLD3 FKBP8 EML2 SHC2 TMEM59L PGLS LSM4 KLK5 ZNF345 PRKD2 RPL36 ZNF473 KANK2 CLIP3 FAM32A LSM14A KLK13 CCDC9 PRPF31 IRF2BP1 FGF21 GAPDHS OR7A17 TIMM13 TSPAN16 DAZAP1 OR10H3 OR10H2 OR10H1 OR7E24 OR7C2 OR7A5 OR7C1 ZNF285 AKAP8L FGF22 ZBTB32 SIGLEC7 LYPD3 ARRDC2 BBC3 DKKL1 TJP3 CPAMD8 SIGLEC9 SIGLEC8 C5AR2 NMRK2 DHDH ZNF544 EIF3K UBE2S SLC6A16 C19orf53 BABAM1 LGALS13 UHRF1 CYP2S1 TFPT STRN4 CCDC106 HOOK2 EPN1 SERTAD3 SERTAD1 SLC39A3 NOP53 BICRA TNPO2 ADGRE2 CD209 EHD2 KLK14 KLK12 COL5A3 RDH8 SHANK1 NOSIP MRPL4 NDUFA13 ANGPTL4 ZNF580 HSD17B14 GP6 VRK3 MARCHF2 ZNF571 GMIP CD320 ECSIT SPMAP2 ZBTB7A FZR1 WDR83OS ISYNA1 ZNF581 SIRT6 PIAS4 LSR LSM7 ZNF44 TM6SF2 MBD3 PTOV1 S1PR5 FXYD7 FXYD5 RAB4B MIER2 DDX49 PAF1 PCSK4 PPP1R12C TRPM4 ZNF586 ZNF562 QPCTL GATAD2A BEST2 FBXL12 FAM83E PGPEP1 CC2D1A EPS8L1 RASIP1 TMEM161A SARS2 TMEM160 FAM174C PIH1D1 REX1BD GPATCH1 SAMD4B DMAC2 PLEKHJ1 C19orf73 MAP1S PNMA8A TMEM143 KLHL26 ZNF444 SHFL ZNF331 FEM1A ZNF823 KLK15 MED29 STAP2 TRMT1 BTBD2 NLRP2 RNF126 ZNF416 YJU2 ASF1B ZNF701 ZNF83 ZNF415 USE1 PSENEN ZNF302 ANGPTL8 LIN37 MYDGF SMG9 ZNF253 IRGC SLC7A10 PPAN CABP5 RETN SPHK2 LGALS14 EXOSC5 MEIS3 NCLN GPR108 SPPL2B DUS3L XAB2 SHD CEACAM19 SLC17A7 NAT14 CD177 ATP13A1 RGL3 SLC44A2 VN1R1 MCOLN1 RCN3 ZNF304 TTYH1 WDR18 REXO1 PNMA8B ZNF490 PRR12 DOCK6 ZNF471 ZNF492 TSHZ3 LRFN1 GRAMD1A CAMSAP3 USP29 PLEKHA4 ZFP14 ZNF317 ZNF529 PRX ANO8 SPTBN4 MARK4 SUGP1 HAMP CATSPERG CYP4F11 ZNF71 ZNF77 SCAF1 CACTIN PRODH2 EPS15L1 WIZ CACNG8 CACNG7 CACNG6 UBL5 ZNF350 TSKS CELF5 ZNF667 DMRTC2 C19orf33 ELSPBP1 LIN7B HIF3A CHST8 ZNF574 PLEKHG2 RASAL3 MRPL34 KRI1 ZSWIM4 ZNF649 ZSCAN18 CYP4F12 YIPF2 TRIR DDA1 KXD1 TMEM38A TSEN34 KCTD15 SLC25A23 SMIM7 ZNF426 TRAPPC6A MBOAT7 FKRP ZSCAN5A PLEKHF1 LENG1 LILRA6 RBM42 BRME1 ZNF576 FSD1 ZNF557 LRFN3 ABHD8 CERS4 OCEL1 ZNF329 COLGALT1 IGFLR1 TBC1D17 ZNF419 GEMIN7 ISOC2 MYH14 ZNF665 TLE6 ZNF552 EPHX3 PODNL1 ZNF671 ZNF613 COQ8B CCNP SLC35E1 PLPPR3 DENND1C ZNF442 ZNF556 ZNF606 ZNF614 LRRC8E FUZ OPA3 ZNF430 ITPKC UBXN6 PBX4 IQCN B9D2 RSPH6A YJU2B ACSBG2 ADAMTS10 ZNF611 MED25 QTRT1 ABHD17A ZNF93 DOHH PLVAP RTBDN BCL2L12 C19orf12 TEX101 GRWD1 ANGPTL6 KLF16 USHBP1 WDR87 TSSK6 CCDC8 KIRREL2 ANKRD27 PRAM1 C19orf44 ZNF541 MRI1 SYT3 FBXW9 ALKBH7 WDR83 PDCD2L ZNF414 AKT1S1 ELOF1 ZNF528 DOT1L BRSK1 ZNF333 FBN3 ZNF527 CNFN ZNF559 KISS1R ADGRE3 ZNF347 CREB3L3 GTPBP3 ZNF577 MPV17L2 ZNF607 KMT5C NFKBID LMNB2 RAX2 CEP89 ZNF382 ZNF587 FIZ1 ZNF566 PWWP3A HSH2D MPND ALKBH6 ATG4D ATCAY SYDE1 RHPN2 MBD3L1 GALP SIGLEC10 SIGLEC12 ZNF628 MIDN ZNF30 ZNF551 CEACAM21 ZNF616 ZNF766 CCDC97 EXOC3L2 ZNF468 ZNF160 CTU1 SAMD1 DCAF15 GADD45GIP1 ZNF835 YIF1B ZNF799 TIMM29 ZNF625 ZNF700 ZNF439 ZNF486 DPP9 ZNF682 R3HDM4 TMEM259 FAAP24 TDRD12 ZNF765 NLRP12 MYADM ZNF845 TPGS1 ZNF461 ZNF585B CRB3 TIMM50 SHKBP1 REEP6 PEX11G DMKN ZNF561 OLFM2 ODAD1 HAUS8 MVB12A ARMC6 ACP4 CGB5 MUC16 CGB7 LRRC4B ZNF101 LENG9 CGB8 GNG8 PPP1R14A EGLN2 GARIN5A RDH13 FDX2 NACC1 PTH2 IZUMO4 SCAMP4 ADAT3 ZNF257 ZIM3 SIGLEC11 CGB1 CGB2 PGLYRP2 LMTK3 LENG8 CCDC124 ZNF554 FBXO17 KIR3DL3 ARHGAP33 EVI5L RASGRP4 NXNL1 ODAD3 ZNF653 ZNF526 ZNF837 GRIN3B MRPL54 LRG1 CIB3 RLN3 CLDND2 ZNF816 ZNF543 CEACAM20 RAVER1 OR7D4 OR7G1 OR1M1 COX6B2 CALR3 ACER1 MICOS13 MBD3L2 TRAPPC5 PCP2 OSCAR ZNF813 ZNF441 ZNF491 ZNF440 SWSAP1 CCDC159 JOSD2 IZUMO2 CPT1C ALDH16A1 NTN5 NLRP13 NLRP8 NLRP5 ZNF787 ZNF573 WDR88 TMIGD2 EID2B TNFAIP8L1 IRGQ ZNF428 JSRP1 MOB3A MFSD12 GIPC3 NDUFA11 MISP LRRC25 OR1I1 WTIP ZNF792 NR2C2AP HSPB6 TEKTL1 CYP4F22 RINL FBXO27 PLK5 C19orf47 OR10H4 ANKLE1 C2CD4C ZNF358 ZFP28 VSIG10L ZNF480 ZNF534 ZNF578 ERVV-1 SMIM17 C19orf18 ZNF418 ZNF417 ZNF548 PPM1N KLC3 IGSF23 LYPD4 ZNF560 TMEM190 HIPK4 TMC4 ZNF524 ZNF784 ZNF563 SPC24 KASH5 DACT3 SIX5 IGFL2 ZNF420 ZNF565 NLRP4 ZNF582 ZNF583 FAM98C CAPN12 DPY19L3 LGALS16 TTC9B TICAM1 ZNRF4 ZNF599 FAM187B CILP2 PROSER3 ZNF558 CDC42EP5 ZNF98 ZNF714 ZNF681 C19orf25 ATP8B3 DIRAS1 ZNF555 ZNF569 ZNF570 ZNF836 ZNF610 ZNF600 ZNF320 ZNF497 ZNF550 ZNF296 DEDD2 ZNF846 OR7D2 ZNF579 ZNF791 ZNF564 ZNF709 ZNF433 ZNF114 ZNF567 ZNF383 ZNF781 EID2 ZNF780B PRR22 LGI4 SYNE4 ZNF676 ZNF100 ZNF540 SSBP4 ZNF431 ANKRD24 SPACA4 ZNF675 MCEMP1 ZNF627 DAND5 ZNF585A NLRP7 GGN CADM4 THAP8 U2AF1L4 ZNF626 NIBAN3 ADM5 ZNF584 ZSCAN4 NLRP11 TMEM86B CBARP INAFM1 C19orf38 ZNF549 SYCE2 KANK3 TINCR CATSPERD IL4I1 IFNL2 IFNL3 IFNL1 SSC5D ZNF547 ZIK1 ZNF776 ZSCAN1 ZNF780A ACTMAP PRR19 TMEM145 CXCL17 ZNF575 LYPD5 ZNF283 PPP1R37 NKPD1 TPRX1 MAMSTR IZUMO1 EMC10 KLK9 SIGLECL1 ZNF615 ZNF841 ACTL9 OR2Z1 ZNF763 ZNF844 SCGB2B2 WDR62 ZFP82 VSTM1 TMEM150B GARIN5B SMIM24 SLC25A41 MBD3L5 OR10H5 NWD1 SLC25A42 ZNF493 CIMAP1D ZNF875 VN1R2 VN1R4 NLRP9 ZNF181 ZNF260 ZNF546 MYPOP NANOS2 ADAMTSL5 CLEC4G VSTM2B ZNF850 NCCRP1 SYCN LEUTX ZNF404 ZNF284 C19orf81 ZNF677 RFPL4A ZSCAN5B ZSCAN22 NANOS3 PALM3 SELENOV ZNF530 DNAAF3 ZNF429 ZNF233 LILRA5 TMPRSS9 NDUFS7 PEAK3 HSD11B1L SAXO5 ZNF699 TMEM205 YJEFN3 SBSN ZNF829 ZNF568 B3GNT8 IGFL1 ZSWIM9 ZNF773 SLC27A1 CLEC17A ZNF728 RGS9BP KRTDAP ZNF790 CEACAM16 BLOC1S3 IGFL3 ZNF808 ZNF888 ZNF761 TMEM238 ZNF470 ZNF749 ONECUT3 OR7G2 OR7G3 OR7A10 NUDT19 ZNF793 ACP7 PINLYP ZNF805 SPRED3 MEX3D PRSS57 VMAC ZNF880 ZNF772 IGLON5 HAPLN4 CTXN1 MIRLET7E MIR125A MIR150 MIR181C MIR199A1 MIR23A MIR24-2 MIR27A MIR99B PLIN5 ZNF506 PSG8 TARM1 MIR371A MIR372 MIR373 IGFL4 DPRX DUXA ASPDH MIR519D MIR520H TMEM91 SDHAF1 LINGO3 ARRDC5 C19orf67 SBK2 UCA1 LGALS7B PHLDB3 MBD3L4 MBD3L3 PPAN-P2RY11 OVOL3 PLIN4 CCDC61 ZNF878 CEACAM18 SHISA7 RFPL4AL1 BORCS8 ZNF814 ZNF726 SIGLEC14 ZGLP1 TEKTIP1 ZNF730 ZNF737 TMEM221 BSPH1 PET100 SRRM5 ERICH4 ERVV-2 MEF2B ZNF729 ZNF587B MIR1909 PPP5D1P ZNF865 PGLS-DT TGFBR3L ZNF559-ZNF177 ZNF816-ZNF321P PTOV1-AS2 ZIM2-AS1
- Associated Variants
- GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) AND See cases
- ClinVar Allele ID
- 437161
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2015-07-14
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000512296
- Observed Origin Sample
- not provided
Drugs