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Did you mean TBC1D24 as a gene symbol? Search ClinVar for TBC1D24

See TBC1D24 TBC1 domain family member 24 in the Gene database

Search results

Items: 1 to 100 of 667

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:73141-11390552
GRCh38:
Chr16:23141-11296695
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLC9A3R2, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, USP7, USP7-AS1, VASN, WASIR2, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058594
2.
GRCh37:
Chr16:79941-2610461
GRCh38:
Chr16:29941-2560460
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058595
3.
GRCh37:
Chr16:93732-13420663
GRCh38:
Chr16:43732-13326806
MSLN, NPIPB2, NPRL3, PDIA2, PTX4, RSL1D1-DT, SEC14L5, SOCS1, TMEM186, TMEM204, TRR-CCG1-3, TRR-CCT3-1, ZNF174, TNFRSF12A, TNFRSF17, TRR-CCT5-1, RAB11FIP3, MSRB1, NPW, SEPTIN12, SHISA9, SLC9A3R2, PDPK1, PERCC1, ZNF200, ZNF205, ZNF205-AS1, SSTR5-AS1, STUB1, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MTRNR2L4, NAA60, NTHL1, NTN3, PGAP6, PGP, PIGQ, RAB26, SLX4, SYNGR3, TNP2, TPSAB1, TPSB2, UBN1, UNKL, ZNF213, ZNF213-AS1, ZG16B, USP7, USP7-AS1, VASN, WDR24, WDR90, ZNF263, ZNF500, ZNF597, ZNF598, TRK-CTT3-1, TRK-CTT4-1, ZSCAN10, ZSCAN32, TRP-CGG1-2, TRP-TGG3-3, THOC6, TIGD7, TMEM114, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-TGG3-4, TRP-TGG3-5, ZNF75A, SMIM22, SNHG19, SNHG9, SNORD60, SNRNP25, SNX29, WFIKKN1, ZC3H7A, TBC1D24, RSL1D1, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RAB40C, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, PRM3, PRR25, PRR35, PRM1, PRM2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, NUBP1, NUBP2, TBL3, NDUFB10, NHLRC4, NME4, SNN, SNORA10, NLRC3, NME3, MMP25, MMP25-AS1, MIR6769A, MIR8065, NMRAL1, NOXO1, SNORA3C, SNORA64, SNORA78, MIR4718, MIR548H2, MIR5587, MPG, MRPL28, MRPS34, NAGPA, NAGPA-AS1, MIR940, MLST8, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TSC2, TSR3, TVP23A, TXNDC11, UBALD1, UBE2I, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BCAR4, BICDL2, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927131, LOC101929613, LOC105371038, LOC105371046, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150284
4.
GRCh37:
Chr16:96766-4297186
GRCh38:
Chr16:46766-4247185
ANTKMT, ABCA3, ADCY9, AMDHD2, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C16orf91, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01569, LINC02124, LINC02861, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121847967, LOC121847968, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SLX4, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147509
5.
GRCh37:
Chr16:96766-11619372
GRCh38:
Chr16:46766-11525516
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CAPN15, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02152, LINC02164, LINC02177, LINC02861, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100134368, LOC100287175, LOC101927131, LOC101929613, LOC105371038, LOC105371046, LOC105371083, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121847967, LOC121847968, LOC121847969, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR548H2, MIR5587, MIR6126, MIR6511B1, MIR662, MIR6767, MIR6768, MIR6769A, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NDUFB10, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, PMM2, POLR3K, PPL, PRM1, PRM2, PRM3, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLC9A3R2, SLX4, SMIM22, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, TVP23A, UBALD1, UBE2I, UBN1, UNKL, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Feb 28, 2010)
no assertion criteria providedVCV000144298
6.
GRCh37:
Chr16:96766-3264623
GRCh38:
Chr16:46766-3214623
LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121847967, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR5587, MIR6511B1, MIR662, MIR6767, MIR6768, MIR940, MLST8, MMP25, MMP25-AS1, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, PAQR4, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, PKMYT1, POLR3K, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLC9A3R2, SNHG19, SNHG9, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, THOC6, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TSC2, TSR3, UBE2I, UNKL, WDR24, WDR90, WFIKKN1, ZG16B, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF598, ZSCAN10, ABCA3, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf91, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CRAMP1, DECR2, DNASE1L2, E4F1, ECI1, ELOB, EME2, ERVK13-1, FAHD1, FAM234A, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, GREP1, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100128770, LOC100134368, LOC100287175, LOC101929613, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, LOC116268480, LOC121530606
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058597
7.
GRCh37:
Chr16:716662-15836961
GRCh38:
Chr16:666662-15743104
ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ATF7IP2, ATP6V0C, BAIAP3, BCAR4, BFAR, BICDL2, BMERB1, BRICD5, C16orf72, C16orf89, C16orf90, C16orf91, C16orf96, C1QTNF8, CACNA1H, CARHSP1, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CEROX1, CHTF18, CIAO3, CIITA, CLCN7, CLDN6, CLDN9, CLEC16A, CLUAP1, CORO7, CORO7-PAM16, CPPED1, CRAMP1, CREBBP, DEXI, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, EMP2, ERCC4, ERVK13-1, FAHD1, FBXL16, FLJ42627, FLYWCH1, FLYWCH2, GFER, GLIS2, GLIS2-AS1, GLYR1, GNG13, GNPTG, GREP1, GRIN2A, GSPT1, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LINC00254, LINC00921, LINC01177, LINC01195, LINC01290, LINC01569, LINC01570, LINC02124, LINC02130, LINC02152, LINC02164, LINC02177, LINC02185, LINC02186, LINC02861, LITAF, LITAFD, LMF1, LMF1-AS1, LOC100128770, LOC100130283, LOC100288162, LOC100505915, LOC101927131, LOC101929613, LOC105371046, LOC105371083, LOC106783500, LOC106799840, LOC106799915, LOC107522031, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111464986, LOC111776217, LOC111822950, LOC111822951, LOC112296179, LOC112296180, LOC112296181, LOC112296182, LOC112296183, LOC112296184, LOC112296185, LOC112296186, LOC112296187, LOC112296188, LOC112296189, LOC112340377, LOC112340378, LOC112340379, LOC112340380, LOC112340381, LOC112340386, LOC112340387, LOC112340388, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939948, LOC113939950, LOC113939951, LOC115253417, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121530613, LOC121530614, LOC121530615, LOC121530616, LOC121530617, LOC121530618, LOC121530619, LOC121847967, LOC121847968, LOC121847969, LOC121847970, LOC121847971, LOC121847972, LOC121847973, LOC400499, MAPK8IP3, MAPK8IP3-AS1, MARF1, MEFV, MEIOB, METRN, METTL22, MGRN1, MIR1225, MIR193B, MIR193BHG, MIR1972-1, MIR3177, MIR3178, MIR3179-1, MIR3180-1, MIR3180-4, MIR3180-5, MIR365A, MIR3670-1, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, MIR484, MIR548H2, MIR6126, MIR6506, MIR6511A1, MIR6511B1, MIR6511B2, MIR662, MIR6767, MIR6768, MIR6769A, MIR6770-1, MIR8065, MIR940, MLST8, MMP25, MMP25-AS1, MPV17L, MRPS34, MRTFB, MSLN, MSRB1, MTRNR2L4, MYH11, NAA60, NAGPA, NAGPA-AS1, NDE1, NDUFB10, NLRC3, NME3, NMRAL1, NOMO1, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB2, NPW, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PARN, PDPK1, PDXDC1, PERCC1, PGP, PKD1, PKD1-AS1, PKMYT1, PLA2G10, PMM2, PPL, PRM1, PRM2, PRM3, PRR25, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB26, RBFOX1, RHBDL1, RHOT2, RMI2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, RRN3, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLC9A3R2, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNX29, SOCS1, SOX8, SPSB3, SRL, SRRM2, SRRM2-AS1, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TEKT5, TELO2, TFAP4, THOC6, TIGD7, TMEM114, TMEM186, TMEM204, TNFRSF12A, TNFRSF17, TNP2, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, TRT-CGT2-1, TSC2, TSR3, TVP23A, TXNDC11, UBALD1, UBE2I, UBN1, UNKL, USP7, USP7-AS1, VASN, WDR24, WDR90, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155643
8.
GRCh37:
Chr16:2354444-2726864
GRCh38:
Chr16:2304443-2676863
See casesUncertain significance
(Jul 18, 2014)
no assertion criteria providedVCV000154001
9.
GRCh37:
Chr16:2376841-3537106
GRCh38:
Chr16:2326840-3487106
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058619
10.
GRCh37:
Chr16:2415462-2814285
GRCh38:
Chr16:2365461-2764284
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria providedVCV000154402
11.
GRCh37:
Chr16:2415462-2582961
GRCh38:
Chr16:2365461-2532960
See casesUncertain significance
(May 14, 2012)
no assertion criteria providedVCV000150039
12.
GRCh37:
Chr16:2456644-2832412
GRCh38:
Chr16:2406643-2782411
See casesLikely pathogenic
(Apr 4, 2013)
no assertion criteria providedVCV000152712
13.
GRCh37:
Chr16:2525150-2525152
GRCh38:
Chr16:2475149-2475151
TBC1D24not specifiedLikely benign
(Jun 28, 2017)
criteria provided, single submitterVCV000516720
14.
GRCh37:
Chr16:2525152
GRCh38:
Chr16:2475151
TBC1D24Myoclonic epilepsy, familial infantile, not providedConflicting interpretations of pathogenicity
(Jan 15, 2018)
criteria provided, conflicting interpretationsVCV000884387
15.
GRCh37:
Chr16:2525153
GRCh38:
Chr16:2475152
TBC1D24not specifiedLikely benign
(Apr 3, 2017)
criteria provided, single submitterVCV000508449
16.
GRCh37:
Chr16:2525166
GRCh38:
Chr16:2475165
TBC1D24not specifiedLikely benign
(Feb 12, 2016)
criteria provided, single submitterVCV000383682
17.
GRCh37:
Chr16:2525168
GRCh38:
Chr16:2475167
TBC1D24not specifiedLikely benign
(Mar 27, 2017)
criteria provided, single submitterVCV000508475
18.
GRCh37:
Chr16:2525174
GRCh38:
Chr16:2475173
TBC1D24not specifiedLikely benign
(Mar 21, 2017)
criteria provided, single submitterVCV000516721
19.
GRCh37:
Chr16:2525184
GRCh38:
Chr16:2475183
TBC1D24not specifiedLikely benign
(Jun 27, 2016)
criteria provided, single submitterVCV000387229
20.
GRCh37:
Chr16:2525189
GRCh38:
Chr16:2475188
TBC1D24not providedLikely benign
(May 22, 2018)
criteria provided, single submitterVCV000668520
21.
GRCh37:
Chr16:2525244
GRCh38:
Chr16:2475243
TBC1D24not providedBenign
(May 24, 2019)
criteria provided, single submitterVCV001183617
22.
GRCh37:
Chr16:2544805-3296579
GRCh38:
Chr16:2494804-3246579
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059427
23.
GRCh37:
Chr16:2545791
GRCh38:
Chr16:2495790
TBC1D24not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000677586
24.
GRCh37:
Chr16:2545895
GRCh38:
Chr16:2495894
TBC1D24not providedLikely benign
(Jun 22, 2018)
criteria provided, single submitterVCV001207448
25.
GRCh37:
Chr16:2545934
GRCh38:
Chr16:2495933
TBC1D24not providedLikely benign
(Jun 16, 2018)
criteria provided, single submitterVCV000675998
26.
GRCh37:
Chr16:2545975
GRCh38:
Chr16:2495974
TBC1D24not providedLikely benign
(Jul 6, 2018)
criteria provided, single submitterVCV001204212
27.
GRCh37:
Chr16:2546018
GRCh38:
Chr16:2496017
TBC1D24not specifiedLikely benign
(Jan 15, 2018)
criteria provided, single submitterVCV000514549
28.
GRCh37:
Chr16:2546035
GRCh38:
Chr16:2496034
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884388
29.
GRCh37:
Chr16:2546051
GRCh38:
Chr16:2496050
TBC1D24not specified, Myoclonic epilepsy, familial infantileConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretationsVCV000318607
30.
GRCh37:
Chr16:2546062
GRCh38:
Chr16:2496061
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000884389
31.
GRCh37:
Chr16:2546097
GRCh38:
Chr16:2496096
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318608
32.
GRCh37:
Chr16:2546104
GRCh38:
Chr16:2496103
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000886414
33.
GRCh37:
Chr16:2546114
GRCh38:
Chr16:2496113
TBC1D24not providedLikely benign
(May 15, 2018)
criteria provided, single submitterVCV000668367
34.
GRCh37:
Chr16:2546114
GRCh38:
Chr16:2496113
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318609
35.
GRCh37:
Chr16:2546119
GRCh38:
Chr16:2496118
TBC1D24not specified, Myoclonic epilepsy, familial infantileBenign
(Jan 12, 2018)
criteria provided, multiple submitters, no conflictsVCV000139391
36.
GRCh37:
Chr16:2546120
GRCh38:
Chr16:2496119
TBC1D24not specifiedLikely benign
(Feb 21, 2018)
criteria provided, single submitterVCV000516722
37.
GRCh37:
Chr16:2546130-2550979
GRCh38:
Chr16:2496129-2500978
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65
Uncertain significance
(Sep 17, 2018)
criteria provided, single submitterVCV000655213
38.
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 30, 2019)
criteria provided, single submitterVCV000474299
39.
GRCh37:
Chr16:2546132
GRCh38:
Chr16:2496131
TBC1D24not specifiedBenign
(Aug 27, 2014)
criteria provided, single submitterVCV000207483
40.
GRCh37:
Chr16:2546135
GRCh38:
Chr16:2496134
TBC1D24not specifiedLikely benign
(Mar 24, 2017)
criteria provided, single submitterVCV000508425
41.
GRCh37:
Chr16:2546135
GRCh38:
Chr16:2496134
TBC1D24not specifiedLikely benign
(Oct 8, 2015)
criteria provided, single submitterVCV000381017
42.
GRCh37:
Chr16:2546143
GRCh38:
Chr16:2496142
TBC1D24not provided, Myoclonic epilepsy, familial infantile, not specified
Conflicting interpretations of pathogenicity
(May 3, 2019)
criteria provided, conflicting interpretationsVCV000139392
43.
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
44.
GRCh37:
Chr16:2546147
GRCh38:
Chr16:2496146
TBC1D24Myoclonic epilepsy, familial infantileUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318610
45.
GRCh37:
Chr16:2546150
GRCh38:
Chr16:2496149
TBC1D24M1VDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Sep 15, 2020)
criteria provided, single submitterVCV001062856
46.
GRCh37:
Chr16:2546162
GRCh38:
Chr16:2496161
TBC1D24G5Rnot providedUncertain significance
(Aug 15, 2016)
criteria provided, single submitterVCV000290246
47.
GRCh37:
Chr16:2546169
GRCh38:
Chr16:2496168
TBC1D24N7Snot providedUncertain significance
(Sep 18, 2014)
criteria provided, single submitterVCV000207493
48.
GRCh37:
Chr16:2546171
GRCh38:
Chr16:2496170
TBC1D24C8RCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1,
not specified, Myoclonic epilepsy, familial infantile, not provided
Benign/Likely benign
(Apr 28, 2021)
criteria provided, multiple submitters, no conflictsVCV000195134
49.
GRCh37:
Chr16:2546176
GRCh38:
Chr16:2496175
TBC1D24Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24,
not specified
Likely benign
(Jun 9, 2019)
criteria provided, multiple submitters, no conflictsVCV000386266
50.
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,
Early infantile epileptic encephalopathy 16
Uncertain significance
(Jan 3, 2022)
criteria provided, multiple submitters, no conflictsVCV000646598
51.
GRCh37:
Chr16:2546185
GRCh38:
Chr16:2496184
TBC1D24Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Oct 6, 2020)
criteria provided, single submitterVCV001046925
52.
GRCh37:
Chr16:2546197
GRCh38:
Chr16:2496196
TBC1D24Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24,
not provided
Likely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000510920
53.
GRCh37:
Chr16:2546198
GRCh38:
Chr16:2496197
TBC1D24A17TDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 27, 2020)
criteria provided, single submitterVCV001006265
54.
GRCh37:
Chr16:2546207
GRCh38:
Chr16:2496206
TBC1D24Q20*not providedPathogenic
(Jan 30, 2017)
criteria provided, single submitterVCV000419782
55.
GRCh37:
Chr16:2546207
GRCh38:
Chr16:2496206
TBC1D24Q20EDOORS syndromePathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000091397
56.
GRCh37:
Chr16:2546213
GRCh38:
Chr16:2496212
TBC1D24Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Likely benign
(Nov 6, 2020)
criteria provided, single submitterVCV001133113
57.
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
58.
GRCh37:
Chr16:2546225
GRCh38:
Chr16:2496224
TBC1D24E26KDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Oct 23, 2020)
criteria provided, single submitterVCV001045539
59.
GRCh37:
Chr16:2546225-2546226
GRCh38:
Chr16:2496224-2496225
TBC1D24E26LCaused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(May 26, 2020)
criteria provided, single submitterVCV001026209
60.
GRCh37:
Chr16:2546235
GRCh38:
Chr16:2496234
TBC1D24C29FDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Aug 22, 2020)
criteria provided, single submitterVCV001035801
61.
GRCh37:
Chr16:2546237
GRCh38:
Chr16:2496236
TBC1D24T30ADeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV001043816
62.
GRCh37:
Chr16:2546239
GRCh38:
Chr16:2496238
TBC1D24Myoclonic epilepsy, familial infantile, not provided, not specified,
Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Conflicting interpretations of pathogenicity
(May 11, 2021)
criteria provided, conflicting interpretationsVCV000227985
63.
GRCh37:
Chr16:2546243
GRCh38:
Chr16:2496242
TBC1D24Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1
Likely benign
(Jun 19, 2020)
criteria provided, single submitterVCV001117027
64.
GRCh37:
Chr16:2546244
GRCh38:
Chr16:2496243
TBC1D24L32Rnot providedUncertain significance
(Aug 19, 2019)
criteria provided, single submitterVCV001307763
65.
GRCh37:
Chr16:2546251
GRCh38:
Chr16:2496250
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65
Likely benign
(Dec 21, 2017)
criteria provided, single submitterVCV000541321
66.
GRCh37:
Chr16:2546264
GRCh38:
Chr16:2496263
TBC1D24A39PDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Likely pathogenic
(Feb 21, 2020)
criteria provided, single submitterVCV001066340
67.
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,
not provided
Pathogenic
(Aug 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000474302
68.
GRCh37:
Chr16:2546265
GRCh38:
Chr16:2496264
TBC1D24A39Enot specified, not provided, Deafness, autosomal dominant 65,
Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Conflicting interpretations of pathogenicity
(Nov 5, 2021)
criteria provided, conflicting interpretationsVCV000449916
69.
GRCh37:
Chr16:2546266
GRCh38:
Chr16:2496265
TBC1D24Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1,
not provided
Likely benign
(Feb 18, 2020)
criteria provided, multiple submitters, no conflictsVCV001133711
70.
GRCh37:
Chr16:2546267
GRCh38:
Chr16:2496266
TBC1D24R40Cnot provided, DOORS syndromePathogenic
(Apr 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000091396
71.
GRCh37:
Chr16:2546268
GRCh38:
Chr16:2496267
TBC1D24R40HDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Dec 27, 2019)
criteria provided, single submitterVCV000856852
72.
GRCh37:
Chr16:2546268
GRCh38:
Chr16:2496267
TBC1D24R40LDOORS syndromePathogenic
(Jan 1, 2014)
criteria provided, single submitterVCV000183152
73.
GRCh37:
Chr16:2546270
GRCh38:
Chr16:2496269
TBC1D24Q41*Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24,
not provided
Pathogenic
(Dec 17, 2019)
criteria provided, multiple submitters, no conflictsVCV000391687
74.
GRCh37:
Chr16:2546279
GRCh38:
Chr16:2496278
TBC1D24W44Rnot specifiedUncertain significance
(Feb 12, 2019)
criteria provided, single submitterVCV000666926
75.
GRCh37:
Chr16:2546280
GRCh38:
Chr16:2496279
TBC1D24W44*not providedPathogenic
(Aug 8, 2017)
criteria provided, single submitterVCV000593459
76.
GRCh37:
Chr16:2546292
GRCh38:
Chr16:2496291
TBC1D24H48LEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Sep 20, 2018)
criteria provided, single submitterVCV000649293
77.
GRCh37:
Chr16:2546293
GRCh38:
Chr16:2496292
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65
Likely benign
(Oct 12, 2020)
criteria provided, single submitterVCV001085413
78.
GRCh37:
Chr16:2546293
GRCh38:
Chr16:2496292
TBC1D24H48Qnot specified, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1,
Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Dec 27, 2019)
criteria provided, multiple submitters, no conflictsVCV000858106
79.
GRCh37:
Chr16:2546294
GRCh38:
Chr16:2496293
TBC1D24A49TMyoclonic epilepsy, familial infantileUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000318611
80.
GRCh37:
Chr16:2546300
GRCh38:
Chr16:2496299
TBC1D24R51WMyoclonic epilepsy, familial infantileUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000318612
81.
GRCh37:
Chr16:2546301
GRCh38:
Chr16:2496300
TBC1D24R51QDeafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV001005891
82.
GRCh37:
Chr16:2546303
GRCh38:
Chr16:2496302
TBC1D24G52REpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Sep 21, 2018)
criteria provided, single submitterVCV000639966
83.
GRCh37:
Chr16:2546316
GRCh38:
Chr16:2496315
TBC1D24Q56Lnot providedUncertain significance
(Dec 13, 2019)
criteria provided, single submitterVCV001311143
84.
GRCh37:
Chr16:2546318
GRCh38:
Chr16:2496317
TBC1D24R57CRolandic epilepsy, not specified, Myoclonic epilepsy, familial infantile,
Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1,
Seizures, not provided
Conflicting interpretations of pathogenicity
(Sep 1, 2021)
criteria provided, conflicting interpretationsVCV000195364
85.
GRCh37:
Chr16:2546319
GRCh38:
Chr16:2496318
TBC1D24R57Hnot providedUncertain significance
(Sep 22, 2016)
criteria provided, single submitterVCV000431832
86.
GRCh37:
Chr16:2546320
GRCh38:
Chr16:2496319
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65
Pathogenic
(Oct 10, 2017)
criteria provided, single submitterVCV000541316
87.
GRCh37:
Chr16:2546327
GRCh38:
Chr16:2496326
TBC1D24R60Wnot provided, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1,
Deafness, autosomal dominant 65
Conflicting interpretations of pathogenicity
(Apr 21, 2021)
criteria provided, conflicting interpretationsVCV000207517
88.
GRCh37:
Chr16:2546328
GRCh38:
Chr16:2496327
TBC1D24R60QMyoclonic epilepsy, familial infantile, not specified, not provided,
Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Epileptic encephalopathy, early infantile, 1
Conflicting interpretations of pathogenicity
(Jan 4, 2021)
criteria provided, conflicting interpretationsVCV000207518
89.
GRCh37:
Chr16:2546336
GRCh38:
Chr16:2496335
TBC1D24P63SEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Jan 4, 2019)
criteria provided, single submitterVCV000839288
90.
GRCh37:
Chr16:2546341
GRCh38:
Chr16:2496340
TBC1D24C64*not providedLikely pathogenic
(Aug 29, 2016)
criteria provided, single submitterVCV000422098
91.
GRCh37:
Chr16:2546341
GRCh38:
Chr16:2496340
TBC1D24not provided, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24,
Epileptic encephalopathy, early infantile, 1
Likely benign
(Feb 23, 2016)
criteria provided, single submitterVCV000238627
92.
GRCh37:
Chr16:2546342
GRCh38:
Chr16:2496341
TBC1D24R65Cnot provided, Epileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65,
Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Mar 23, 2021)
criteria provided, multiple submitters, no conflictsVCV000942461
93.
GRCh37:
Chr16:2546343
GRCh38:
Chr16:2496342
TBC1D24R65LDeafness, autosomal recessive 86Pathogenic
(Feb 16, 2016)
no assertion criteria providedVCV000236046
94.
GRCh37:
Chr16:2546346
GRCh38:
Chr16:2496345
TBC1D24T66MEpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24,
not provided
Uncertain significance
(Oct 14, 2020)
criteria provided, multiple submitters, no conflictsVCV000841498
95.
GRCh37:
Chr16:2546347
GRCh38:
Chr16:2496346
TBC1D24Caused by mutation in the TBC1 domain family, member 24, Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1
Uncertain significance
(Sep 27, 2019)
criteria provided, single submitterVCV000573760
96.
GRCh37:
Chr16:2546352
GRCh38:
Chr16:2496351
TBC1D24T68REpileptic encephalopathy, early infantile, 1, Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24
Uncertain significance
(Mar 21, 2019)
criteria provided, single submitterVCV000836240
97.
GRCh37:
Chr16:2546353
GRCh38:
Chr16:2496352
TBC1D24Seizures, not provided, Epileptic encephalopathy, early infantile, 1,
Deafness, autosomal dominant 65, Caused by mutation in the TBC1 domain family, member 24, Myoclonic epilepsy, familial infantile,
not specified
Benign/Likely benign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000139393
98.
GRCh37:
Chr16:2546356
GRCh38:
Chr16:2496355
TBC1D24Deafness, autosomal dominant 65, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
not specified, Myoclonic epilepsy, familial infantile, Seizures
Benign
(Dec 8, 2020)
criteria provided, multiple submitters, no conflictsVCV000130539
99.
GRCh37:
Chr16:2546357
GRCh38:
Chr16:2496356
TBC1D24D70YDeafness, autosomal recessive 86Pathogenic
(Dec 22, 2014)
no assertion criteria providedVCV000100677
100.
GRCh37:
Chr16:2546359
GRCh38:
Chr16:2496358
TBC1D24not provided, Epileptic encephalopathy, early infantile, 1, Caused by mutation in the TBC1 domain family, member 24,
Deafness, autosomal dominant 65
Likely benign
(Sep 11, 2020)
criteria provided, multiple submitters, no conflictsVCV000415713
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