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Items: 88

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:53455650-64006604
not providedUncertain significance
(Aug 23, 2018)
no assertion criteria providedVCV000687857
2.
GRCh37:
Chr16:88165-90274695
AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000602282
3.
GRCh37:
Chr16:88165-90163275
ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737, AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000602281
4.
GRCh37:
Chr16:61451-90294632
AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000602279
5.
GRCh37:
Chr16:54416050-72453266
not providedPathogenic
(May 22, 2018)
no assertion criteria providedVCV000564331
6.
GRCh37:
Chr16:55527065-55527076
GRCh38:
Chr16:55493153-55493164
MMP2not providedUncertain significance
(May 21, 2018)
criteria provided, single submitterVCV000546219
7.
GRCh37:
Chr16:46455960-90354753
AARS1, ADCY7, AP1G1, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CES1, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS1, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PHKB, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RBL2, RPL13, RRAD, SALL1, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, N4BP1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, IRX5, DNAJA2, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZNF423, ZCCHC14, GSE1, ATMIN, RPGRIP1L, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, TOX3, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, CIAO2B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, HEATR3, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, MEAK7, WFDC1, NOD2, PDF, DPEP2, DPEP3, TENT4B, AKTIP, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FTO, FA2H, IRX6, IRX3, RIPOR1, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SHCBP1, SETD6, ESRP2, PSME3IP1, CENPT, CHD9, C16orf70, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, LONP2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, COG8, SPIRE2, MT4, ZNF469, GPT2, B3GNT9, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, RSPRY1, MYLK3, MARVELD3, MTSS2, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, ABCC12, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, ZC3H18, CDYL2, SNX20, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, ZFPM1, ADAD2, ZFP1, ADAMTS18, LDHD, FCSK, MLKL, ZNF778, ACSF3, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, NUDT7, CLEC18C, SNAI3, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria providedVCV000523162
8.
GRCh37:
Chr16:46497599-90354753
ADGRG5, PRSS54, CES5A, ADGRG3, CNEP1R1, TERB1, CES4A, EXOC3L1, NUDT7, CLEC18C, SNAI3, FAM92B, ATXN1L, PKD1L3, CLEC18A, CTU2, TEPP, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NPIPB15, CTRB2, MIR328, CLEC18B, KIAA0895L, LOC654780, SYCE1L, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737, AARS1, ADCY7, AP1G1, AGRP, AMFR, APRT, ZFHX3, BBS2, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CES1, CETP, CNGB1, COX4I1, CSNK2A2, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, DYNC1LI2, DPEP1, E2F4, FANCA, FOXF1, FOXL1, FOXC2, GALNS, GAS8, GCSH, GLG1, GNAO1, GOT2, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, KARS1, KIFC3, LCAT, MAF, MC1R, CHST6, MMP2, MMP15, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, NFATC3, CHMP1A, PHKB, PLCG2, POLR2C, PSKH1, PSMB10, PSMD7, RBL2, RPL13, RRAD, SALL1, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPG7, TAT, TERF2, TK2, ZNF19, ZNF23, GAN, SLC7A5, CDK10, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, ADGRG1, BCAR1, VPS9D1, N4BP1, NUP93, HERPUD1, KIAA0513, PIEZO1, DHX38, IST1, ATP2C2, CLEC3A, CHST4, MPHOSPH6, NUTF2, IRX5, DNAJA2, KATNB1, EMC8, TUBB3, CFDP1, CTCF, NFAT5, NUDT21, WWP2, PRDM7, DDX19B, GABARAPL2, MON1B, TCF25, CNOT1, PHLPP2, ZNF423, ZCCHC14, GSE1, ATMIN, RPGRIP1L, COTL1, MLYCD, SF3B3, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, COG4, PLEKHG4, LRRC29, CPNE7, VPS4A, IL17C, TOX3, NOB1, CCDC113, TMEM208, CFAP20, FHOD1, BRD7, ANKRD11, ZDHHC1, OSGIN1, PARD6A, PLLP, CKLF, NIP7, CIAO2B, GINS2, TPPP3, TRAPPC2L, WWOX, BCO1, TERF2IP, PRMT7, NECAB2, KLHDC4, HYDIN, DEF8, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, HEATR3, PDPR, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, FBXL8, SMPD3, ZNF821, ZDHHC7, VAC14, DOK4, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, CMC2, COQ9, CIAPIN1, THAP11, JPH3, PDP2, ZNF319, RANBP10, VAT1L, MEAK7, WFDC1, NOD2, PDF, DPEP2, DPEP3, TENT4B, AKTIP, MTHFSD, GINS3, NDRG4, ACD, DBNDD1, FTO, FA2H, IRX6, IRX3, RIPOR1, TMEM231, TANGO6, USB1, WDR59, ELMO3, KLHL36, FBXO31, SHCBP1, SETD6, ESRP2, PSME3IP1, CENPT, CHD9, C16orf70, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, LONP2, ENKD1, SLC7A6OS, NLRC5, DRC7, CAPNS2, COG8, SPIRE2, MT4, ZNF469, GPT2, B3GNT9, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, RSPRY1, MYLK3, MARVELD3, MTSS2, CENPBD1, ZNF276, CCDC102A, KCNG4, SDR42E1, ABCC12, CMTM1, PKD1L2, RNF166, EXOSC6, C16orf46, DNAAF1, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, ZC3H18, CDYL2, SNX20, TMEM170A, SLC38A8, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, SLC22A31, IL34, TMED6, ZFPM1, ADAD2, ZFP1, ADAMTS18, LDHD, FCSK, MLKL, ZNF778, ACSF3, CPNE2
PARP Inhibitor responsedrug response
(Nov 27, 2017)
no assertion criteria providedVCV000523156
9.
GRCh37:
Chr16:55530934
GRCh38:
Chr16:55497022
MMP2not specifiedLikely benign
(Feb 15, 2017)
criteria provided, single submitterVCV000499907
10.
GRCh37:
Chr16:55536723
GRCh38:
Chr16:55502811
MMP2G601V, G551V, G525Vnot specifiedLikely benign
(Jan 23, 2017)
criteria provided, single submitterVCV000499458
11.
GRCh37:
Chr16:55518043
GRCh38:
Chr16:55484131
MMP2E166K, E116K, E90Knot specifiedLikely benign
(Nov 22, 2016)
criteria provided, single submitterVCV000498527
12.
GRCh37:
Chr16:55517057
GRCh38:
Chr16:55483145
MMP2not providedUncertain significance
(Sep 29, 2016)
criteria provided, single submitterVCV000497263
13.
GRCh37:
Chr16:34197492-64509054
See casesPathogenic
(May 22, 2013)
no assertion criteria providedVCV000443550
14.
GRCh37:
Chr16:9273328-89548493
AARS1, ADCY7, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ZFHX3, ATP2A1, BBS2, TNFRSF17, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLN3, CNGB1, COX4I1, COX6A2, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, DHODH, NQO1, SEPTIN1, DYNC1LI2, E2F4, EMP2, ERCC4, FOXF1, FOXL1, FOXC2, FUS, GALNS, GCSH, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAS3, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, CHST6, CIITA, MMP2, MMP15, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NFATC3, PARN, PHKB, PHKG2, PLCG2, PLK1, POLR2C, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, TERF2, TGFB1I1, TK2, TNP2, TUFM, UMOD, UQCRC2, ZNF19, ZNF23, ZP2, GAN, SLC7A5, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, TRADD, MBTPS1, CES2, NAE1, NOL3, TAF1C, SLC7A6, USP10, ATP6V0D1, BCL7C, NPIPA1, ADGRG1, TAOK2, LITAF, BCAR1, MARF1, N4BP1, NUP93, HERPUD1, ZNF646, CCP110, SETD1A, KIAA0513, PIEZO1, DHX38, IST1, RNF40, ATP2C2, HS3ST4, HS3ST2, MVP, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, IGSF6, IRX5, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, CD2BP2, CDIPT, CFDP1, ERN2, CTCF, NFAT5, SRCAP, NUDT21, WWP2, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, CNOT1, PHLPP2, PDXDC1, SMG1, GGA2, ZNF423, NPIPB3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, SF3B3, QPRT, CES3, ADAT1, CHST5, ARL2BP, ORC6, EDC4, PLA2G15, TP53TG3, COG4, PLEKHG4, SH2B1, TBC1D10B, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, MYLPF, EEF2K, OSGIN1, IL21R, PARD6A, TXNDC11, PLLP, METTL9, CKLF, BFAR, AHSP, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, WWOX, SYT17, BCO1, TERF2IP, PRMT7, NECAB2, FBXL19, RRN3, KLHDC4, HYDIN, NDE1, DUS2, CHTF8, LPCAT2, TXNL4B, BANP, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, USP31, MRTFB, PDP2, ZNF319, RANBP10, VAT1L, MEAK7, WFDC1, PRM3, CHP2, NOD2, XYLT1, PDF, DPEP2, DPEP3, TENT4B, FBRS, AKTIP, C16orf58, MTHFSD, GINS3, NDRG4, ACD, ZNF747, PRR14, VKORC1, SLX1B, FTO, DCTPP1, FA2H, GDPD3, IRX6, IRX3, PAGR1, RIPOR1, TMEM231, TANGO6, USB1, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, SPNS1, ENKD1, SLC7A6OS, KAT8, NLRC5, DRC7, CAPNS2, COG8, DCTN5, MT4, ZNF469, GPT2, B3GNT9, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RSPRY1, CCDC189, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, CMTM1, PKD1L2, ZNF689, SLC5A11, RNF166, RMI2, ACSM1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, IQCK, ZC3H18, GPR139, CDYL2, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, C16orf92, GSG1L, SLC22A31, IL34, TMED6, ZNF785, ZNF688, PRSS36, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, LDHD, FCSK, MLKL, ZNF778, ACSF3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MPV17L, PDZD9, CNEP1R1, ANKS4B, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, C16orf54, INO80E, NUDT7, ZNF843, CLEC18C, SNAI3, PRSS53, FAM92B, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, TEPP, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, TVP23A, MIR365A, SYCE1L, NPIPB5, SDR42E2, NPIPA5, LINC01082, C16orf95, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesUncertain significance
(Jun 23, 2014)
no assertion criteria providedVCV000443126
15.
GRCh37:
Chr16:85881-90155062
PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737, AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513
See casesPathogenic
(Dec 2, 2014)
no assertion criteria providedVCV000443121
16.
GRCh37:
Chr16:85881-90155062
AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
See casesPathogenic
(Jul 14, 2015)
no assertion criteria providedVCV000443120
17.
GRCh37:
Chr16:55511806
GRCh38:
Chr16:55477894
MMP2Lip and oral cavity carcinomaassociation
(Jan 1, 2016)
criteria provided, single submitterVCV000429032
18.
GRCh37:
Chr16:46464488-90155062