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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:2546792
GRCh38:
Chr16:2496791
TBC1D24W215GDeafness, autosomal recessive 86Uncertain significance
(May 31, 2018)
criteria provided, single submitterVCV000627588
2.
GRCh37:
Chr16:2546883
GRCh38:
Chr16:2496882
TBC1D24L245PDeafness, autosomal recessive 86, Myoclonic epilepsy, familial infantile, Deafness, autosomal dominant 65,
Early infantile epileptic encephalopathy 16, DOORS syndrome
Uncertain significance
(Oct 23, 2017)
criteria provided, single submitterVCV000626176
3.
GRCh37:
Chr16:109978-4316797
Chromosome 16p13.3 duplication syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625723
4.
GRCh37:
Chr16:2546591
GRCh38:
Chr16:2496590
TBC1D24E148*not providedPathogenic
(Oct 8, 2018)
criteria provided, single submitterVCV000620424
5.
GRCh37:
Chr16:2547716
GRCh38:
Chr16:2497715
TBC1D24S324*not providedPathogenic
(Sep 26, 2018)
criteria provided, single submitterVCV000620365
6.
GRCh37:
Chr16:2516738-2667855
ATP6V0C, NTN3, PDPK1, AMDHD2, TBC1D24, CEMP1not providedBenign
(May 2, 2011)
no assertion criteria providedVCV000614895
7.
GRCh37:
Chr16:2510603-2581022
ATP6V0C, NTN3, AMDHD2, TBC1D24, TEDC2, CEMP1not providedBenign
(Feb 15, 2013)
no assertion criteria providedVCV000614893
8.
GRCh37:
Chr16:88165-90274695
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, AARS, 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, KARS, 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, TMEM8A, 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, FAM192A, 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
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000602282
9.
GRCh37:
Chr16:88165-90163275
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, KARS, 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, TMEM8A, 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, FAM192A, 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, AARS, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000602281
10.
GRCh37:
Chr16:61451-90294632
AARS, 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, KARS, 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, TMEM8A, 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, FAM192A, 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
11.
GRCh37:
Chr16:2550833
GRCh38:
Chr16:2500832
TBC1D24not providedUncertain significance
(Sep 6, 2018)
criteria provided, single submitterVCV000598608
12.
GRCh37:
Chr16:2548392
GRCh38:
Chr16:2498391
TBC1D24not providedUncertain significance
(May 22, 2018)
criteria provided, single submitterVCV000597104
13.
GRCh37:
Chr16:2546280
GRCh38:
Chr16:2496279
TBC1D24W44*not providedPathogenic
(Aug 8, 2017)
criteria provided, single submitterVCV000593459
14.
GRCh37:
Chr16:2546536-2546538
GRCh38:
Chr16:2496535-2496537
TBC1D24F130delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591773
15.
GRCh37:
Chr16:2550954
GRCh38:
Chr16:2500953
TBC1D24Q559*not providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591235
16.
GRCh37:
Chr16:2546619
GRCh38:
Chr16:2496618
TBC1D24R157HSeizuresUncertain significance
(Apr 25, 2017)
criteria provided, single submitterVCV000590116
17.
GRCh37:
Chr16:2546391
GRCh38:
Chr16:2496390
TBC1D24I81TSeizuresUncertain significance
(Aug 17, 2016)
criteria provided, single submitterVCV000589895
18.
GRCh37:
Chr16:2547114
GRCh38:
Chr16:2497113
TBC1D24S322NSeizuresUncertain significance
(Nov 16, 2016)
criteria provided, single submitterVCV000588442
19.
GRCh37:
Chr16:2549386
GRCh38:
Chr16:2499385
TBC1D24P391ASeizuresUncertain significance
(Nov 16, 2016)
criteria provided, single submitterVCV000588435
20.
GRCh37:
Chr16:2546530
GRCh38:
Chr16:2496529
TBC1D24D127ESeizuresUncertain significance
(Sep 30, 2016)
criteria provided, single submitterVCV000588307
21.
GRCh37:
Chr16:2546962
GRCh38:
Chr16:2496961
TBC1D24SeizuresLikely benign
(Sep 8, 2016)
criteria provided, single submitterVCV000588249
22.
GRCh37:
Chr16:2546545
GRCh38:
Chr16:2496544
TBC1D24SeizuresLikely benign
(Aug 3, 2016)
criteria provided, single submitterVCV000588095
23.
GRCh37:
Chr16:2550960
GRCh38:
Chr16:2500959
TBC1D24SeizuresUncertain significance
(Aug 17, 2016)
criteria provided, single submitterVCV000588033
24.
GRCh37:
Chr16:2546495
GRCh38:
Chr16:2496494
TBC1D24K116*Deafness, autosomal dominant 65, Deafness, autosomal recessive 86Pathogenic
(Aug 7, 2018)
criteria provided, single submitterVCV000587507
25.
GRCh37:
Chr16:2550885
GRCh38:
Chr16:2500884
TBC1D24not providedUncertain significance
(Jul 18, 2018)
criteria provided, single submitterVCV000586775
26.
GRCh37:
Chr16:2547069
GRCh38:
Chr16:2497068
TBC1D24N307SDeafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Nov 2, 2017)
criteria provided, single submitterVCV000583333
27.
GRCh37:
Chr16:2546217
GRCh38:
Chr16:2496216
TBC1D24G23EEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 30, 2018)
criteria provided, single submitterVCV000581471
28.
GRCh37:
Chr16:2546755
GRCh38:
Chr16:2496754
TBC1D24not provided, Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65,
Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Jul 4, 2018)
criteria provided, multiple submitters, no conflictsVCV000580424
29.
GRCh37:
Chr16:2550293
GRCh38:
Chr16:2500292
TBC1D24E443QEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 29, 2018)
criteria provided, single submitterVCV000580017
30.
GRCh37:
Chr16:2548327
GRCh38:
Chr16:2498326
TBC1D24P358TDeafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1,
not provided
Uncertain significance
(Apr 13, 2018)
criteria provided, multiple submitters, no conflictsVCV000576626
31.
GRCh37:
Chr16:2550490
GRCh38:
Chr16:2500489
TBC1D24Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Mar 28, 2018)
criteria provided, single submitterVCV000576356
32.
GRCh37:
Chr16:2546880
GRCh38:
Chr16:2496879
TBC1D24A244EDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Feb 16, 2018)
criteria provided, single submitterVCV000574391
33.
GRCh37:
Chr16:2546347
GRCh38:
Chr16:2496346
TBC1D24Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 2, 2018)
criteria provided, single submitterVCV000573760
34.
GRCh37:
Chr16:2546771
GRCh38:
Chr16:2496770
TBC1D24V208IDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 29, 2018)
criteria provided, single submitterVCV000572484
35.
GRCh37:
Chr16:2550288
GRCh38:
Chr16:2500287
TBC1D24R441HDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 12, 2018)
criteria provided, single submitterVCV000570270
36.
GRCh37:
Chr16:2548386
GRCh38:
Chr16:2498385
TBC1D24Y377*Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Pathogenic
(Nov 2, 2017)
criteria provided, single submitterVCV000569501
37.
GRCh37:
Chr16:2546522
GRCh38:
Chr16:2496521
TBC1D24F125LCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Feb 17, 2018)
criteria provided, single submitterVCV000568347
38.
GRCh37:
Chr16:1505184-4415346
not providedPathogenic
(Jan 3, 2018)
no assertion criteria providedVCV000564256
39.
GRCh37:
Chr16:85880-11209288
ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, GFER, HBZ, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, HMOX2, IGFALS, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TFAP4, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, AXIN1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, DEXI, C16orf72, UBN1, CDIP1, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1, RAB40C, TMEM8A, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, VASN, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, PRR35, FBXL16, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, SMIM22, CCDC154, C16orf90, SNHG9, CEMP1, TVP23A, MIR1225, MTRNR2L4, CORO7-PAM16
not providedPathogenic
(Mar 29, 2018)
no assertion criteria providedVCV000564254
40.
GRCh37:
Chr16:85880-3216551
not providedPathogenic
(Aug 3, 2017)
no assertion criteria providedVCV000564253
41.
GRCh37:
Chr16:2134202-2527088
not providedUncertain significance
(Mar 19, 2018)
criteria provided, single submitterVCV000560100
42.
GRCh37:
Chr16:2549910
GRCh38:
Chr16:2499909
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Nov 10, 2017)
criteria provided, single submitterVCV000541323
43.
GRCh37:
Chr16:2546668
GRCh38:
Chr16:2496667
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Nov 16, 2017)
criteria provided, single submitterVCV000541322
44.
GRCh37:
Chr16:2546251
GRCh38:
Chr16:2496250
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Dec 21, 2017)
criteria provided, single submitterVCV000541321
45.
GRCh37:
Chr16:2547124
GRCh38:
Chr16:2497123
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Aug 30, 2017)
criteria provided, single submitterVCV000541320
46.
GRCh37:
Chr16:2546736
GRCh38:
Chr16:2496735
TBC1D24K196RCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Dec 6, 2017)
criteria provided, single submitterVCV000541319
47.
GRCh37:
Chr16:2546563
GRCh38:
Chr16:2496562
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Oct 30, 2017)
criteria provided, single submitterVCV000541318
48.
GRCh37:
Chr16:2546956
GRCh38:
Chr16:2496955
TBC1D24I269MCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Mar 13, 2018)
criteria provided, single submitterVCV000541317
49.
GRCh37:
Chr16:2546321
GRCh38:
Chr16:2496320
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Pathogenic
(Oct 10, 2017)
criteria provided, single submitterVCV000541316
50.
GRCh37:
Chr16:2548304
GRCh38:
Chr16:2498303
TBC1D24M350TCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Nov 19, 2017)
criteria provided, single submitterVCV000541315
51.
GRCh37:
Chr16:2546768
GRCh38:
Chr16:2496767
TBC1D24Q207*not providedPathogenic
(Mar 22, 2018)
criteria provided, single submitterVCV000523796
52.
GRCh37:
Chr16:2546641
GRCh38:
Chr16:2496640
TBC1D24not specifiedLikely benign
(Jun 15, 2017)
criteria provided, single submitterVCV000517980
53.
GRCh37:
Chr16:2546941
GRCh38:
Chr16:2496940
TBC1D24not specifiedLikely benign
(Aug 17, 2017)
criteria provided, single submitterVCV000517521
54.
GRCh37:
Chr16:2546446
GRCh38:
Chr16:2496445
TBC1D24not specifiedLikely benign
(Aug 3, 2017)
criteria provided, single submitterVCV000517511
55.
GRCh37:
Chr16:2546992
GRCh38:
Chr16:2496991
TBC1D24not specifiedLikely benign
(Feb 21, 2017)
criteria provided, single submitterVCV000517303
56.
GRCh37:
Chr16:2549434
GRCh38:
Chr16:2499433
TBC1D24not specifiedLikely benign
(Jan 11, 2018)
criteria provided, single submitterVCV000516724
57.
GRCh37:
Chr16:2546120
GRCh38:
Chr16:2496119
TBC1D24not specifiedLikely benign
(Feb 21, 2018)
criteria provided, single submitterVCV000516722
58.
GRCh37:
Chr16:2525174
GRCh38:
Chr16:2475173
TBC1D24not specifiedLikely benign
(Mar 21, 2017)
criteria provided, single submitterVCV000516721
59.
GRCh37:
Chr16:2525153-2525155
GRCh38:
Chr16:2475152-2475154
TBC1D24not specifiedLikely benign
(Jun 28, 2017)
criteria provided, single submitterVCV000516720
60.
GRCh37:
Chr16:2546710
GRCh38:
Chr16:2496709
TBC1D24not specifiedLikely benign
(Jan 11, 2018)
criteria provided, single submitterVCV000514629
61.
GRCh37:
Chr16:2546018
GRCh38:
Chr16:2496017
TBC1D24not specifiedLikely benign
(Jan 15, 2018)
criteria provided, single submitterVCV000514549
62.
GRCh37:
Chr16:2546374
GRCh38:
Chr16:2496373
TBC1D24not specifiedLikely benign
(Dec 14, 2017)
criteria provided, single submitterVCV000514051
63.
GRCh37:
Chr16:2546197
GRCh38:
Chr16:2496196
TBC1D24not specifiedLikely benign
(Jul 19, 2017)
criteria provided, single submitterVCV000510920
64.
GRCh37:
Chr16:2546728
GRCh38:
Chr16:2496727
TBC1D24not specifiedLikely benign
(Apr 27, 2017)
criteria provided, single submitterVCV000509237
65.
GRCh37:
Chr16:2546461
GRCh38:
Chr16:2496460
TBC1D24not specifiedLikely benign
(Apr 14, 2017)
criteria provided, single submitterVCV000508980
66.
GRCh37:
Chr16:2546719
GRCh38:
Chr16:2496718
TBC1D24not specifiedLikely benign
(Apr 12, 2017)
criteria provided, single submitterVCV000508811
67.
GRCh37:
Chr16:2525168
GRCh38:
Chr16:2475167
TBC1D24not specifiedLikely benign
(Mar 27, 2017)
criteria provided, single submitterVCV000508475
68.
GRCh37:
Chr16:2525153
GRCh38:
Chr16:2475152
TBC1D24not specifiedLikely benign
(Apr 3, 2017)
criteria provided, single submitterVCV000508449
69.
GRCh37:
Chr16:2546135
GRCh38:
Chr16:2496134
TBC1D24not specifiedLikely benign
(Mar 24, 2017)
criteria provided, single submitterVCV000508425
70.
GRCh37:
Chr16:2550837
GRCh38:
Chr16:2500836
TBC1D24G520Rnot specifiedUncertain significance
(Jan 30, 2018)
criteria provided, single submitterVCV000506272
71.
GRCh37:
Chr16:2550855
GRCh38:
Chr16:2500854
TBC1D24R526Cnot specifiedUncertain significance
(Dec 5, 2017)
criteria provided, single submitterVCV000506193
72.
GRCh37:
Chr16:2546634
GRCh38:
Chr16:2496633
TBC1D24N162Snot specifiedUncertain significance
(Sep 28, 2017)
criteria provided, single submitterVCV000506170
73.
GRCh37:
Chr16:2550808
GRCh38:
Chr16:2500807
TBC1D24G510Enot specifiedUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000505833
74.
GRCh37:
Chr16:2547016
GRCh38:
Chr16:2497015
TBC1D24not specifiedLikely benign
(Feb 21, 2017)
criteria provided, single submitterVCV000505687
75.
GRCh37:
Chr16:2550441
GRCh38:
Chr16:2500440
TBC1D24S492Fnot specifiedUncertain significance
(Mar 20, 2017)
criteria provided, single submitterVCV000505527
76.
GRCh37:
Chr16:2546985
GRCh38:
Chr16:2496984
TBC1D24T279Mnot specifiedUncertain significance
(Sep 1, 2016)
criteria provided, single submitterVCV000505283
77.
GRCh37:
Chr16:2550264
GRCh38:
Chr16:2500263
TBC1D24not providedUncertain significance
(Feb 7, 2018)
criteria provided, single submitterVCV000504257
78.
GRCh37:
Chr16:2548294
GRCh38:
Chr16:2498293
TBC1D24V347MDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not provided
Uncertain significance
(May 18, 2018)
criteria provided, multiple submitters, no conflictsVCV000493168
79.
GRCh37:
Chr16:2546632
GRCh38:
Chr16:2496631
TBC1D24C161*not providedLikely pathogenic
(Dec 5, 2017)
criteria provided, single submitterVCV000489172
80.
GRCh37:
Chr16:2546978
GRCh38:
Chr16:2496977
TBC1D24A277TCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1,
Seizures
Uncertain significance
(Apr 23, 2018)
criteria provided, multiple submitters, no conflictsVCV000474314
81.
GRCh37:
Chr16:2546966
GRCh38:
Chr16:2496965
TBC1D24V273ICaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Jun 16, 2017)
criteria provided, single submitterVCV000474313
82.
GRCh37:
Chr16:2546957
GRCh38:
Chr16:2496956
TBC1D24R270CCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Feb 10, 2017)
criteria provided, single submitterVCV000474312
83.
GRCh37:
Chr16:2546876
GRCh38:
Chr16:2496875
TBC1D24V243MCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(May 2, 2017)
criteria provided, single submitterVCV000474311
84.
GRCh37:
Chr16:2546875
GRCh38:
Chr16:2496874
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Jul 11, 2017)
criteria provided, single submitterVCV000474310
85.
GRCh37:
Chr16:2546789
GRCh38:
Chr16:2496788
TBC1D24R214CCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Apr 20, 2017)
criteria provided, single submitterVCV000474309
86.
GRCh37:
Chr16:2546705
GRCh38:
Chr16:2496704
TBC1D24L186VCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Oct 28, 2017)
criteria provided, single submitterVCV000474308
87.
GRCh37:
Chr16:2546474
GRCh38:
Chr16:2496473
TBC1D24R109GCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Jun 27, 2017)
criteria provided, single submitterVCV000474307
88.
GRCh37:
Chr16:2546482
GRCh38:
Chr16:2496481
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Jun 27, 2017)
criteria provided, single submitterVCV000474306
89.
GRCh37:
Chr16:2550856
GRCh38:
Chr16:2500855
TBC1D24R526HCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(May 17, 2017)
criteria provided, single submitterVCV000474305
90.
GRCh37:
Chr16:2550827
GRCh38:
Chr16:2500826
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Apr 2, 2017)
criteria provided, single submitterVCV000474304
91.
GRCh37:
Chr16:2550498
GRCh38:
Chr16:2500497
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Jul 4, 2017)
criteria provided, single submitterVCV000474303
92.
GRCh37:
Chr16:2546265
GRCh38:
Chr16:2496264
TBC1D24A39VCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Mar 17, 2017)
criteria provided, single submitterVCV000474302
93.
GRCh37:
Chr16:2548403
GRCh38:
Chr16:2498402
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Jan 31, 2017)
criteria provided, single submitterVCV000474301
94.
GRCh37:
Chr16:2548365
GRCh38:
Chr16:2498364
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Likely benign
(Jun 14, 2017)
criteria provided, single submitterVCV000474300
95.
GRCh37:
Chr16:2546130-2550979
GRCh38:
Chr16:2496129-2500978
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Pathogenic
(Sep 26, 2017)
criteria provided, single submitterVCV000474299
96.
GRCh37:
Chr16:2546925
GRCh38:
Chr16:2496924
TBC1D24P259Lnot providedUncertain significance
(Jul 18, 2017)
criteria provided, single submitterVCV000450477
97.
GRCh37:
Chr16:2546265
GRCh38:
Chr16:2496264
TBC1D24A39Enot specifiedUncertain significance
(Apr 5, 2017)
criteria provided, single submitterVCV000449916
98.
GRCh37:
Chr16:2547039
GRCh38:
Chr16:2497038
TBC1D24R297Hnot providedUncertain significance
(Jul 17, 2017)
criteria provided, single submitterVCV000449816
99.
GRCh37:
Chr16:2546969
GRCh38:
Chr16:2496968
TBC1D24R274Gnot providedUncertain significance
(Dec 4, 2015)
criteria provided, single submitterVCV000449267
100.
GRCh37:
Chr16:2546800
GRCh38:
Chr16:2496799
TBC1D24not specifiedLikely benign
(Jul 5, 2017)
criteria provided, single submitterVCV000448646
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