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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
TBC1D24not specifiedUncertain significance
(Feb 12, 2019)
criteria provided, single submitterVCV000666926
2.
TBC1D24not providedBenign
(Mar 3, 2014)
criteria provided, single submitterVCV000139401
3.
GRCh37:
Chr16:1274615-19073133
ABAT, ABCA3, ADCY9, ABCC6, ATP6V0C, TNFRSF17, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, GFER, GRIN2A, GSPT1, HAGH, HMOX2, IGFALS, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, RPS15A, SRL, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, SNN, PLA2G10, SOCS1, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, NPIPA1, SLC9A3R2, LITAF, MARF1, SEC14L5, IFT140, TELO2, NUBP2, ZNF263, TRAP1, TBL3, RNPS1, PRSS21, PDXDC1, SMG1, CLUAP1, MAPK8IP3, ARL6IP1, CLEC16A, MGRN1, NOMO1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, RSL1D1, DEXI, C16orf72, ZC3H7A, UBN1, CDIP1, AMDHD2, PAM16, TXNDC11, NAGPA, BFAR, TNFRSF12A, MSRB1, KCTD5, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, CPPED1, ALG1, NMRAL1, TBC1D24, MRTFB, CASKIN1, CRAMP1, PRM3, PRSS22, XYLT1, MLST8, MMP25, TPSB2, HS3ST6, UNKL, MRPS34, METTL22, THOC6, KREMEN2, CORO7, ROGDI, TMEM204, NAA60, TMC7, ATF7IP2, TEDC2, FAHD1, PRSS27, TRAF7, FLYWCH1, NUDT16L1, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, BMERB1, ZNF598, JPT2, SPSB3, TIGD7, SNX29, FLYWCH2, VASN, TSR3, RMI2, NTAN1, FOPNL, NOXO1, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, EME2, NLRC3, MEIOB, MPV17L, PRSS33, NOMO2, NPW, BRICD5, PGP, C16orf91, TMEM114, C16orf96, PRSS41, PTX4, BCAR4, NOMO3, SMIM22, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, SHISA9, SNHG9, CEMP1, TVP23A, MIR365A, MIR1225, NPIPA5, MTRNR2L4, CORO7-PAM16
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221511
4.
GRCh37:
Chr16:1279324-31926800
SLC5A2, SPN, SULT1A2, ZNF263, TRAP1, STX4, SULT1A1, IL4R, TBL3, XPO6, CARHSP1, RAB26, SNX29, ZNF764, ORAI3, PRRT2, ERI2, STX1B, SGF29, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RMI2, ACSM1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, VWA3A, OTOA, TEKT5, RNF151, C16orf92, GSG1L, ZNF597, BICDL2, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ITPRIPL2, C16orf82, EEF2KMT, EME2, NLRC3, ITGAL, NSMCE1, ZNF48, PDILT, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, PYDC1, NOMO2, NPW, BRICD5, PGP, C16orf54, INO80E, ZNF843, C16orf91, TMEM114, PRSS53, C16orf96, ZKSCAN2, ACSM2B, NDUFB10, PRSS41, SBK1, PTX4, BCAR4, KNOP1, NOMO3, NME3, SMIM22, NPIPB4, SULT1A4, TRIM72, SLX1A, BOLA2, KIF22, MAZ, NTHL1, NTN3, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, ZG16, ADCY9, ALDOA, BOLA2B, CLEC19A, EIF3CL, NPIPB6, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16, PDXDC1, TNRC6A, DEXI, NOMO1, TPSD1, IL32, BCL7C, MYLPF, ZNF205, PRM1, PRM2, PDPK1, ATP6V0C, TNFRSF17, GP2, NDUFAB1, C16orf72, ZC3H7A, EIF3C, BAIAP3, CLDN6, KIAA0556, PARN, PRKCB, MAPK3, ACSM3, SCNN1B, SH2B1, TBC1D10B, ZNF500, ELOB, TFAP4, AQP8, ABCC6, CLN3, COX6A2, CD19, ABCA3, TAOK2, SLC9A3R2, TMEM186, ZNF213, RSL1D1, SEZ6L2, PYCARD, UBN1, ZNF174, ZNF200, SCNN1G, SRL, ITGAM, ITGAX, OR1F1, OR2C1, PMM2, PPL, PPP4C, RPS2, RPS15A, SULT1A3, TBX6, UBE2I, UMOD, ZP2, USP7, ABAT, UQCRC2, ZNF75A, CDR2, CLCN7, SNN, PLA2G10, CLDN9, PKMYT1, MVP, NUBP2, DNAJA3, SYNGR3, NPIPA1, HIRIP3, SOCS1, CDIPT, ERN2, NUPR1, LAT, CREBBP, CRYM, CTF1, ECI1, SEPTIN1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, FUS, GRIN2A, GSPT1, GTF3C1, HAGH, HMOX2, IGFALS, MEFV, CIITA, ABCC1, MYH11, NUBP1, LITAF, MARF1, SEC14L5, ZNF646, CCP110, SETD1A, IFT140, RNF40, TELO2, HS3ST4, HS3ST2, SRCAP, RNPS1, PRSS21, CORO1A, ATXN2L, SEPHS2, EEF2K, CDIP1, IL21R, AMDHD2, PAM16, TXNDC11, DOC2A, CLEC16A, MGRN1, ZNF629, TPSAB1, TSC2, TUFM, PHKG2, PKD1, ATP2A1, PRSS8, RBBP6, RPL3L, BCKDK, CCNF, MAPK8IP3, ARL6IP1, PLK1, TGFB1I1, TNP2, ITGAD, GFER, ZNF267, CACNG3, CD2BP2, METTL9, NAGPA, BFAR, AHSP, TNFRSF12A, ZNF771, LCMT1, GDE1, GPRC5B, MSRB1, SYT17, KCTD5, FBXL19, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, ARHGAP17, CPPED1, DNAH3, THUMPD1, POLR3E, APOBR, ALG1, UBFD1, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, CRAMP1, PRM3, CHP2, PRSS22, XYLT1, MLST8, FBRS, MMP25, TPSB2, HS3ST6, UNKL, C16orf58, ZNF747, GGA2, NPIPB3, COQ7, IGSF6, SMG1, CLUAP1, MRPS34, PRR14, VKORC1, SLX1B, DCTPP1, METTL22, GDPD3, THOC6, KREMEN2, PAGR1, CORO7, ROGDI, TMEM204, ZNF768, PALB2, ZNF668, ARMC5, KDM8, QPRT, SRRM2, TMC5, RABEP2, NAA60, TMC7, ATF7IP2, TEDC2, HSD3B7, FAHD1, YPEL3, TLCD3B, PRSS27, SPNS1, KAT8, TRAF7, FLYWCH1, NUDT16L1, SLX4, DCTN5, GNPTG, GLYR1, GLIS2, ZSCAN10, NFATC2IP, BMERB1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, COG7
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221391
5.
GRCh37:
Chr16:1280042-33710558
MARF1, SEC14L5, ZNF646, CCP110, SETD1A, IFT140, RNF40, TELO2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, COQ7, IGSF6, BCKDK, ZNF267, CACNG3, CD2BP2, CDIPT, ERN2, TBL3, SRCAP, RNPS1, PRSS21, CORO1A, ATXN2L, SEPHS2, PDXDC1, SMG1, CLUAP1, GGA2, NPIPB3, MAPK8IP3, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ZNF629, NOMO1, TPSD1, QPRT, SRRM2, CARHSP1, TP53TG3, RAB26, TMEM186, SH2B1, TBC1D10B, ZNF500, RSL1D1, SEZ6L2, NUPR1, LAT, TNRC6A, DEXI, C16orf72, ZC3H7A, PYCARD, UBN1, MYLPF, EEF2K, CDIP1, IL21R, AMDHD2, PAM16, TXNDC11, METTL9, NAGPA, BFAR, AHSP, TNFRSF12A, ZNF771, LCMT1, GDE1, GPRC5B, MSRB1, SYT17, KCTD5, FBXL19, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, ARHGAP17, CPPED1, DNAH3, THUMPD1, POLR3E, APOBR, ALG1, UBFD1, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, CRAMP1, PRM3, CHP2, PRSS22, XYLT1, MLST8, FBRS, MMP25, TPSB2, HS3ST6, UNKL, C16orf58, ZNF747, MRPS34, PRR14, VKORC1, SLX1B, DCTPP1, METTL22, GDPD3, THOC6, KREMEN2, PAGR1, CORO7, ROGDI, TMEM204, ZNF768, PALB2, ZNF668, ARMC5, KDM8, TMC5, RABEP2, NAA60, TMC7, ATF7IP2, TEDC2, HSD3B7, FAHD1, YPEL3, TLCD3B, PRSS27, SPNS1, KAT8, TRAF7, FLYWCH1, NUDT16L1, SLX4, DCTN5, GNPTG, GLYR1, GLIS2, ZSCAN10, NFATC2IP, BMERB1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, COG7, SNX29, ZNF764, ORAI3, PRRT2, ERI2, STX1B, SGF29, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RMI2, ACSM1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, VWA3A, OTOA, TEKT5, RNF151, C16orf92, GSG1L, ZNF597, BICDL2, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ITPRIPL2, C16orf82, EEF2KMT, EME2, NLRC3, NSMCE1, ZNF48, PDILT, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, PYDC1, NOMO2, NPW, BRICD5, PGP, C16orf54, INO80E, ZNF843, C16orf91, TMEM114, PRSS53, C16orf96, ZKSCAN2, ACSM2B, PRSS41, SBK1, PTX4, BCAR4, KNOP1, NOMO3, SMIM22, NPIPB4, SULT1A4, TRIM72, SLX1A, BOLA2, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, TP53TG3C, ZG16, BOLA2B, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16, ABAT, ABCA3, ADCY9, ALDOA, AQP8, ABCC6, ATP2A1, ATP6V0C, TNFRSF17, CCNF, CD19, CDR2, CLCN7, CLN3, COX6A2, CREBBP, CRYM, CTF1, ECI1, SEPTIN1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, FUS, GFER, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HMOX2, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KIF22, MAZ, MEFV, CIITA, ABCC1, MYH11, NUBP1, NDUFAB1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PHKG2, PKD1, PLK1, PMM2, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, RBBP6, RPL3L, RPS2, RPS15A, ACSM3, SCNN1B, SCNN1G, SRL, SLC5A2, SPN, SULT1A2, STX4, SULT1A1, SULT1A3, TBX6, ELOB, TFAP4, TGFB1I1, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, SNN, PLA2G10, DOC2A, HIRIP3, SOCS1, EIF3C, BAIAP3, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, BCL7C, NPIPA1, TAOK2, SLC9A3R2, LITAF
HemimegalencephalyPathogenicno assertion criteria providedVCV000375693
6.
GRCh37:
Chr16:2134202-2527088
not providedUncertain significance
(Mar 19, 2018)
criteria provided, single submitterVCV000560100
7.
GRCh37:
Chr16:2525153-2525155
GRCh38:
Chr16:2475152-2475154
TBC1D24not specifiedLikely benign
(Jun 28, 2017)
criteria provided, single submitterVCV000516720
8.
GRCh37:
Chr16:2525153
GRCh38:
Chr16:2475152
TBC1D24not specifiedLikely benign
(Apr 3, 2017)
criteria provided, single submitterVCV000508449
9.
GRCh37:
Chr16:2525166
GRCh38:
Chr16:2475165
TBC1D24not specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitterVCV000383682
10.
GRCh37:
Chr16:2525168
GRCh38:
Chr16:2475167
TBC1D24not specifiedLikely benign
(Mar 27, 2017)
criteria provided, single submitterVCV000508475
11.
GRCh37:
Chr16:2525174
GRCh38:
Chr16:2475173
TBC1D24not specifiedLikely benign
(Mar 21, 2017)
criteria provided, single submitterVCV000516721
12.
GRCh37:
Chr16:2525184
GRCh38:
Chr16:2475183
TBC1D24not specifiedLikely benign
(Jun 27, 2016)
criteria provided, single submitterVCV000387229
13.
GRCh37:
Chr16:2525189
GRCh38:
Chr16:2475188
TBC1D24not providedLikely benign
(May 22, 2018)
criteria provided, single submitterVCV000668520
14.
GRCh37:
Chr16:2545791
GRCh38:
Chr16:2495790
TBC1D24not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000677586
15.
GRCh37:
Chr16:2545934
GRCh38:
Chr16:2495933
TBC1D24not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000675998
16.
GRCh37:
Chr16:2546018
GRCh38:
Chr16:2496017
TBC1D24not specifiedLikely benign
(Jan 15, 2018)
criteria provided, single submitterVCV000514549
17.
GRCh37:
Chr16:2546051
GRCh38:
Chr16:2496050
TBC1D24not specified, Myoclonic epilepsy, familial infantileConflicting interpretations of pathogenicity
(Dec 23, 2016)
criteria provided, conflicting interpretationsVCV000318607
18.
GRCh37:
Chr16:2546097
GRCh38:
Chr16:2496096
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000318608
19.
GRCh37:
Chr16:2546114
GRCh38:
Chr16:2496113
TBC1D24not providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000668367
20.
GRCh37:
Chr16:2546114
GRCh38:
Chr16:2496113
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000318609
21.
GRCh37:
Chr16:2546119
GRCh38:
Chr16:2496118
TBC1D24not specified, Myoclonic epilepsy, familial infantileBenign/Likely benign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflictsVCV000139391
22.
GRCh37:
Chr16:2546120
GRCh38:
Chr16:2496119
TBC1D24not specifiedLikely benign
(Feb 21, 2018)
criteria provided, single submitterVCV000516722
23.
GRCh37:
Chr16:2546132
GRCh38:
Chr16:2496131
TBC1D24not specifiedBenign
(Aug 27, 2014)
criteria provided, single submitterVCV000207483
24.
GRCh37:
Chr16:2546135
GRCh38:
Chr16:2496134
TBC1D24not specifiedLikely benign
(Mar 24, 2017)
criteria provided, single submitterVCV000508425
25.
GRCh37:
Chr16:2546135
GRCh38:
Chr16:2496134
TBC1D24not specifiedLikely benign
(Oct 8, 2015)
criteria provided, single submitterVCV000381017
26.
GRCh37:
Chr16:2546143
GRCh38:
Chr16:2496142
TBC1D24not specified, Myoclonic epilepsy, familial infantileConflicting interpretations of pathogenicity
(Jun 14, 2016)
criteria provided, conflicting interpretationsVCV000139392
27.
GRCh37:
Chr16:2546146
GRCh38:
Chr16:2496145
TBC1D24not specified, not provided, Myoclonic epilepsy, familial infantile
Uncertain significance
(Sep 6, 2018)
criteria provided, multiple submitters, no conflictsVCV000195133
28.
GRCh37:
Chr16:2546147
GRCh38:
Chr16:2496146
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000318610
29.
GRCh37:
Chr16:2546162
GRCh38:
Chr16:2496161
TBC1D24G5Rnot providedUncertain significance
(Aug 15, 2016)
criteria provided, single submitterVCV000290246
30.
GRCh37:
Chr16:2546169
GRCh38:
Chr16:2496168
TBC1D24N7Snot providedUncertain significance
(Sep 18, 2014)
criteria provided, single submitterVCV000207493
31.
GRCh37:
Chr16:2546171
GRCh38:
Chr16:2496170
TBC1D24C8Rnot specified, Myoclonic epilepsy, familial infantile, Deafness, autosomal dominant 65,
Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Conflicting interpretations of pathogenicity
(Oct 27, 2017)
criteria provided, conflicting interpretationsVCV000195134
32.
GRCh37:
Chr16:2546176
GRCh38:
Chr16:2496175
TBC1D24not specifiedLikely benign
(Jun 24, 2017)
criteria provided, multiple submitters, no conflictsVCV000386266
33.
GRCh37:
Chr16:2546177
GRCh38:
Chr16:2496176
TBC1D24V10MDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Jul 18, 2018)
criteria provided, single submitterVCV000646598
34.
GRCh37:
Chr16:2546197
GRCh38:
Chr16:2496196
TBC1D24not specifiedLikely benign
(Jul 19, 2017)
criteria provided, single submitterVCV000510920
35.
GRCh37:
Chr16:2546207
GRCh38:
Chr16:2496206
TBC1D24Q20*not providedPathogenic
(Jan 30, 2017)
criteria provided, single submitterVCV000419782
36.
GRCh37:
Chr16:2546207
GRCh38:
Chr16:2496206
TBC1D24Q20EDOORS syndromePathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000091397
37.
GRCh37:
Chr16:2546217
GRCh38:
Chr16:2496216
TBC1D24G23ECaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(May 30, 2018)
criteria provided, single submitterVCV000581471
38.
GRCh37:
Chr16:2546239
GRCh38:
Chr16:2496238
TBC1D24not specifiedLikely benign
(Mar 1, 2018)
criteria provided, multiple submitters, no conflictsVCV000227985
39.
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
40.
GRCh37:
Chr16:2546265
GRCh38:
Chr16:2496264
TBC1D24A39VEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Nov 5, 2018)
criteria provided, single submitterVCV000474302
41.
GRCh37:
Chr16:2546265
GRCh38:
Chr16:2496264
TBC1D24A39Enot specifiedUncertain significance
(Nov 7, 2018)
criteria provided, multiple submitters, no conflictsVCV000449916
42.
GRCh37:
Chr16:2546267
GRCh38:
Chr16:2496266
TBC1D24R40CDOORS syndromePathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000091396
43.
GRCh37:
Chr16:2546268
GRCh38:
Chr16:2496267
TBC1D24R40LDOORS syndromePathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000183152
44.
GRCh37:
Chr16:2546270
GRCh38:
Chr16:2496269
TBC1D24Q41*not provided, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1,
Caused by mutation in the TBC1 domain family, member 24
Pathogenic
(May 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000391687
45.
GRCh37:
Chr16:2546280
GRCh38:
Chr16:2496279
TBC1D24W44*not providedPathogenic
(Aug 8, 2017)
criteria provided, single submitterVCV000593459
46.
GRCh37:
Chr16:2546292
GRCh38:
Chr16:2496291
TBC1D24H48LDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Sep 20, 2018)
criteria provided, single submitterVCV000649293
47.
GRCh37:
Chr16:2546294
GRCh38:
Chr16:2496293
TBC1D24A49TMyoclonic epilepsy, familial infantileUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000318611
48.
GRCh37:
Chr16:2546300
GRCh38:
Chr16:2496299
TBC1D24R51WMyoclonic epilepsy, familial infantileUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000318612
49.
GRCh37:
Chr16:2546303
GRCh38:
Chr16:2496302
TBC1D24G52REpileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65
Uncertain significance
(Sep 21, 2018)
criteria provided, single submitterVCV000639966
50.
GRCh37:
Chr16:2546318
GRCh38:
Chr16:2496317
TBC1D24R57CDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not provided, Seizures, Rolandic epilepsy,
not specified, Myoclonic epilepsy, familial infantile
Conflicting interpretations of pathogenicity
(Jul 22, 2019)
criteria provided, conflicting interpretationsVCV000195364
51.
GRCh37:
Chr16:2546319
GRCh38:
Chr16:2496318
TBC1D24R57Hnot providedUncertain significance
(Sep 22, 2016)
criteria provided, single submitterVCV000431832
52.
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
53.
GRCh37:
Chr16:2546327
GRCh38:
Chr16:2496326
TBC1D24R60WDeafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1,
not provided
Uncertain significance
(Jun 22, 2018)
criteria provided, multiple submitters, no conflictsVCV000207517
54.
GRCh37:
Chr16:2546328
GRCh38:
Chr16:2496327
TBC1D24R60QDeafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1,
not specified, not provided
Conflicting interpretations of pathogenicity
(Oct 4, 2018)
criteria provided, conflicting interpretationsVCV000207518
55.
GRCh37:
Chr16:2546341
GRCh38:
Chr16:2496340
TBC1D24C64*not providedLikely pathogenic
(Aug 29, 2016)
criteria provided, single submitterVCV000422098
56.
GRCh37:
Chr16:2546341
GRCh38:
Chr16:2496340
TBC1D24Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Likely benign
(Jan 27, 2016)
criteria provided, single submitterVCV000238627
57.
GRCh37:
Chr16:2546343
GRCh38:
Chr16:2496342
TBC1D24R65LDeafness, autosomal recessive 86Pathogenic
(Feb 16, 2016)
no assertion criteria providedVCV000236046
58.
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
59.
GRCh37:
Chr16:2546353
GRCh38:
Chr16:2496352
TBC1D24not specified, Seizures, Deafness, autosomal dominant 65,
Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24, Myoclonic epilepsy, familial infantile
Conflicting interpretations of pathogenicity
(Apr 4, 2018)
criteria provided, conflicting interpretationsVCV000139393
60.
GRCh37:
Chr16:2546356
GRCh38:
Chr16:2496355
TBC1D24not specified, Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65,
Epileptic encephalopathy, early infantile, 1, Myoclonic epilepsy, familial infantile, Seizures
Benign/Likely benign
(Aug 14, 2017)
criteria provided, multiple submitters, no conflictsVCV000130539
61.
GRCh37:
Chr16:2546357
GRCh38:
Chr16:2496356
TBC1D24D70YDeafness, autosomal recessive 86Pathogenic
(Dec 22, 2014)
no assertion criteria providedVCV000100677
62.
GRCh37:
Chr16:2546359
GRCh38:
Chr16:2496358
TBC1D24Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not specified
Likely benign
(Oct 11, 2017)
criteria provided, multiple submitters, no conflictsVCV000415713
63.
GRCh37:
Chr16:2546362
GRCh38:
Chr16:2496361
TBC1D24Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not specified
Likely benign
(Mar 9, 2017)
criteria provided, multiple submitters, no conflictsVCV000227981
64.
GRCh37:
Chr16:2546374
GRCh38:
Chr16:2496373
TBC1D24not specifiedLikely benign
(Dec 14, 2017)
criteria provided, single submitterVCV000514051
65.
GRCh37:
Chr16:2546375
GRCh38:
Chr16:2496374
TBC1D24D76NEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Dec 24, 2018)
criteria provided, single submitterVCV000652727
66.
GRCh37:
Chr16:2546381
GRCh38:
Chr16:2496380
TBC1D24V78MMyoclonic epilepsy, familial infantileUncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000318613
67.
GRCh37:
Chr16:2546390-2546401
GRCh38:
Chr16:2496389-2496400
TBC1D24Seizures, not provided, Epilepsy, rolandic with paroxysmal exercise-induced dystonia and writer's cramp
Conflicting interpretations of pathogenicity
(Jan 30, 2017)
criteria provided, conflicting interpretationsVCV000418692
68.
GRCh37:
Chr16:2546391
GRCh38:
Chr16:2496390
TBC1D24I81TSeizuresUncertain significance
(Aug 17, 2016)
criteria provided, single submitterVCV000589895
69.
GRCh37:
Chr16:2546392
GRCh38:
Chr16:2496391
TBC1D24not specifiedLikely benign
(Sep 12, 2017)
criteria provided, multiple submitters, no conflictsVCV000378701
70.
GRCh37:
Chr16:2546393
GRCh38:
Chr16:2496392
TBC1D24V82LDeafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Nov 6, 2018)
criteria provided, single submitterVCV000207494
71.
GRCh37:
Chr16:2546434
GRCh38:
Chr16:2496433
TBC1D24not provided, SeizuresConflicting interpretations of pathogenicity
(Oct 31, 2016)
criteria provided, conflicting interpretationsVCV000425088
72.
GRCh37:
Chr16:2546446
GRCh38:
Chr16:2496445
TBC1D24not specifiedLikely benign
(Aug 3, 2017)
criteria provided, single submitterVCV000517511
73.
GRCh37:
Chr16:2546461
GRCh38:
Chr16:2496460
TBC1D24not specifiedLikely benign
(Apr 14, 2017)
criteria provided, single submitterVCV000508980
74.
GRCh37:
Chr16:2546462
GRCh38:
Chr16:2496461
TBC1D24C105RDOORS syndromePathogenic
(Dec 22, 2014)
no assertion criteria providedVCV000183153
75.
GRCh37:
Chr16:2546470
GRCh38:
Chr16:2496469
TBC1D24N107Knot providedLikely pathogenic
(Dec 9, 2016)
criteria provided, single submitterVCV000391688
76.
GRCh37:
Chr16:2546474
GRCh38:
Chr16:2496473
TBC1D24R109GEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Jun 27, 2017)
criteria provided, single submitterVCV000474307
77.
GRCh37:
Chr16:2546476
GRCh38:
Chr16:2496475
TBC1D24not specifiedLikely benign
(Jan 18, 2016)
criteria provided, single submitterVCV000382890
78.
GRCh37:
Chr16:2546476
GRCh38:
Chr16:2496475
TBC1D24Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not specified
Likely benign
(Nov 2, 2017)
criteria provided, multiple submitters, no conflictsVCV000227982
79.
GRCh37:
Chr16:2546477
GRCh38:
Chr16:2496476
TBC1D24G110SDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not provided, DOORS syndrome
Conflicting interpretations of pathogenicity
(Oct 3, 2018)
criteria provided, conflicting interpretationsVCV000183154
80.
GRCh37:
Chr16:2546479
GRCh38:
Chr16:2496478
TBC1D24not specifiedLikely benign
(Jun 10, 2015)
criteria provided, single submitterVCV000227983
81.
GRCh37:
Chr16:2546480
GRCh38:
Chr16:2496479
TBC1D24E111KDeafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000661860
82.
GRCh37:
Chr16:2546482
GRCh38:
Chr16:2496481
TBC1D24Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Likely benign
(Jun 27, 2017)
criteria provided, single submitterVCV000474306
83.
GRCh37:
Chr16:2546487
GRCh38:
Chr16:2496486
TBC1D24A113Dno interpretation for the single variantno interpretation for the single variantVCV000242534
84.
GRCh37:
Chr16:2546489
GRCh38:
Chr16:2496488
TBC1D24V114Mnot providedUncertain significance
(Jun 13, 2017)
criteria provided, single submitterVCV000207495
85.
GRCh37:
Chr16:2546492
GRCh38:
Chr16:2496491
TBC1D24R115CSeizures, not providedUncertain significance
(Apr 26, 2017)
criteria provided, multiple submitters, no conflictsVCV000207496
86.
GRCh37:
Chr16:2546493
GRCh38:
Chr16:2496492
TBC1D24R115HDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not specified, not provided
Uncertain significance
(Oct 3, 2018)
criteria provided, multiple submitters, no conflictsVCV000207497
87.
GRCh37:
Chr16:2546495
GRCh38:
Chr16:2496494
TBC1D24K116*Deafness, autosomal dominant 65, Deafness, autosomal recessive 86Pathogenic
(Aug 7, 2018)
criteria provided, single submitterVCV000587507
88.
GRCh37:
Chr16:2546522
GRCh38:
Chr16:2496521
TBC1D24F125LDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Feb 17, 2018)
criteria provided, single submitterVCV000568347
89.
GRCh37:
Chr16:2546528
GRCh38:
Chr16:2496527
TBC1D24D127Nnot providedUncertain significance
(Oct 21, 2014)
criteria provided, single submitterVCV000207498
90.
GRCh37:
Chr16:2546530
GRCh38:
Chr16:2496529
TBC1D24D127ESeizuresUncertain significance
(Sep 30, 2016)
criteria provided, single submitterVCV000588307
91.
GRCh37:
Chr16:2546536-2546538
GRCh38:
Chr16:2496535-2496537
TBC1D24F130delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591773
92.
GRCh37:
Chr16:2546545
GRCh38:
Chr16:2496544
TBC1D24SeizuresLikely benign
(Aug 3, 2016)
criteria provided, single submitterVCV000588095
93.
GRCh37:
Chr16:2546553
GRCh38:
Chr16:2496552
TBC1D24P135LAutosomal dominant epilepsy, Parkinsonism, Deafness, autosomal dominant 65,
Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Dec 27, 2018)
criteria provided, single submitterVCV000375708
94.
GRCh37:
Chr16:2546554
GRCh38:
Chr16:2496553
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Apr 23, 2018)
criteria provided, single submitterVCV000409618
95.
GRCh37:
Chr16:2546557
GRCh38:
Chr16:2496556
TBC1D24not specifiedBenign
(Apr 28, 2015)
criteria provided, single submitterVCV000378702
96.
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
97.
GRCh37:
Chr16:2546580
GRCh38:
Chr16:2496579
TBC1D24Y144CCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Aug 10, 2018)
criteria provided, single submitterVCV000658235
98.
GRCh37:
Chr16:2546588
GRCh38:
Chr16:2496587
TBC1D24D147Nnot specified, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1,
Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Jun 27, 2018)
criteria provided, multiple submitters, no conflictsVCV000229287
99.
GRCh37:
Chr16:2546588
GRCh38:
Chr16:2496587
TBC1D24D147HMyoclonic epilepsy, familial infantilePathogenic
(Dec 22, 2014)
no assertion criteria providedVCV000000048
100.
GRCh37:
Chr16:2546590
GRCh38:
Chr16:2496589
TBC1D24not specified, Seizures, Deafness, autosomal dominant 65,
Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Benign/Likely benign
(Dec 13, 2017)
criteria provided, multiple submitters, no conflictsVCV000139394
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