| - GRCh37:
- Chr16:73141-11390552
- GRCh38:
- Chr16:23141-11296695
| LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, 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, NHERF2, 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, 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, TRK-CTT8-1, 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, UQCC4, USP7, USP7-AS1, VASN, WASIR2, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, 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, HAPSTR1, 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, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC126862260, LOC126862261, LOC126862262, LOC126862263 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:93732-13420663
- GRCh38:
- Chr16:43732-13326806
| ZSCAN10, ZSCAN32, ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BCAR4, BICDL2, BRICD5, C16orf89, C16orf90, 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, HAPSTR1, 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, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, MIR1225, MIR3176, MIR3177, MIR3178, MIR3180-5, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR4718, 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, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPIPB2, 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, RSL1D1, RSL1D1-DT, SEC14L5, SEPTIN12, SHISA9, SLX4, SMIM22, SNHG19, SNHG9, SNN, SNORA10, SNORA3C, SNORA64, SNORA78, SNORD60, SNRNP25, 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, TRG-CCC2-2, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, 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, TXNDC11, UBALD1, UBE2I, UBN1, UNKL, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A | | See cases | Pathogenic (Sep 21, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:96766-4297186
- GRCh38:
- Chr16:46766-4247185
| ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, 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, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MIR3177, MEFV, MEIOB, METRN, METTL26, MIR1225, MIR3176, 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, NHERF2, 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, 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, TRK-CTT8-1, 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, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Pathogenic (Dec 22, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:96766-11619372
- GRCh38:
- Chr16:46766-11525516
| ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATF7IP2, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, 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, HAPSTR1, 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, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC400499, LUC7L, MAPK8IP3, MAPK8IP3-AS1, MCRIP2, MIR1225, MEFV, MEIOB, METRN, METTL22, METTL26, MGRN1, 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, NHERF2, 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, 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, TRK-CTT8-1, 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, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Pathogenic (Feb 28, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:96766-3264623
- GRCh38:
- Chr16:46766-3214623
| ABCA3, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, 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, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121530612, LOC121847967, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC126862260, LOC126862261, LOC126862262, LOC126862263, 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, NHERF2, 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, 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, TRK-CTT8-1, 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, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF598, ZSCAN10 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:716662-15836961
- GRCh38:
- Chr16:666662-15743104
| ABAT, ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ATF7IP2, ATP6V0C, BAIAP3, BCAR4, BFAR, BICDL2, BMERB1, BRICD5, C16orf89, C16orf90, 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, HAPSTR1, 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, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC125146396, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC125146403, LOC125146404, LOC125146406, LOC125146407, LOC125146408, LOC125146410, LOC125146411, LOC125146416, LOC125146417, LOC125146418, LOC125146419, LOC126862260, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, LOC126862276, LOC126862277, LOC126862278, LOC126862279, LOC126862280, LOC126862281, LOC126862282, LOC126862283, LOC126862284, LOC126862285, LOC126862286, LOC126862287, LOC126862288, LOC126862289, LOC126862290, LOC126862291, LOC126862292, LOC126862293, LOC126862294, LOC126862295, LOC126862296, LOC126862297, LOC126862298, LOC126862299, 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, MPV17L-BMERB1, MRPS34, MRTFB, MSLN, MSRB1, MTRNR2L4, MYH11, NAA60, NAGPA, NAGPA-AS1, NDE1, NDUFB10, NHERF2, NLRC3, NME3, NMRAL1, NOMO1, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB2, NPW, OR1F1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, 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, 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, TRK-CTT8-1, 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, UQCC4, USP7, USP7-AS1, VASN, WDR24, WDR90, ZC3H7A, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Pathogenic (Jul 18, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:2544805-3296579
- GRCh38:
- Chr16:2494804-3246579
| AMDHD2, ATP6V0C, BICDL2, CEMP1, CLDN6, CLDN9, ELOB, ERVK13-1, FLJ42627, FLYWCH1, FLYWCH2, GREP1, HCFC1R1, IL32, KCTD5, KREMEN2, LOC100128770, LOC101929613, LOC113939950, LOC121530611, LOC121530612, LOC125146379, LOC125146380, LOC126862261, LOC126862262, LOC126862263, LOC126862264, MEFV, MIR3178, MMP25, MMP25-AS1, OR1F1, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SNORA3C, SRRM2, SRRM2-AS1, TBC1D24, THOC6, TNFRSF12A, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, 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, ZG16B, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZSCAN10 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2767953-4091021
- GRCh38:
- Chr16:2717952-4041020
| ADCY9, BICDL2, C16orf90, CLDN6, CLDN9, CLUAP1, CREBBP, DNASE1, ELOB, FLYWCH1, FLYWCH2, GREP1, HCFC1R1, IL32, KREMEN2, LINC00921, LINC02861, LOC100128770, LOC101929613, LOC113939950, LOC121530612, LOC121847968, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, MEFV, MIR6126, MMP25, MMP25-AS1, MTRNR2L4, NAA60, NLRC3, OR1F1, OR2C1, PAQR4, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SLX4, SNORA3C, SRRM2, SRRM2-AS1, THOC6, TIGD7, TNFRSF12A, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, 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, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2900735-7160698
- GRCh38:
- Chr16:2850734-7110697
| ADCY9, ALG1, ANKS3, BICDL2, C16orf89, C16orf90, C16orf96, CDIP1, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, FLYWCH1, FLYWCH2, GLIS2, GLIS2-AS1, GLYR1, GREP1, HCFC1R1, HMOX2, IL32, KREMEN2, LINC00921, LINC01569, LINC01570, LINC02164, LINC02861, LOC100128770, LOC101929613, LOC107522031, LOC112441450, LOC113939950, LOC113939951, LOC121530612, LOC121530613, LOC121847968, LOC121847969, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, MEFV, MGRN1, MIR6126, MIR6769A, MIR8065, MMP25, MMP25-AS1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NLRC3, NMRAL1, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PKMYT1, PPL, PRSS22, RBFOX1, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, THOC6, TIGD7, TNFRSF12A, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, 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, UBALD1, UBN1, VASN, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3074338
- GRCh38:
- Chr16:3024337
| THOC6 | A4V | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075701
- GRCh38:
- Chr16:3025700
| THOC6 | | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Benign (Sep 10, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075711-3075712
- GRCh38:
- Chr16:3025710-3025711
| THOC6 | E15fs | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Likely pathogenic (Dec 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075715
- GRCh38:
- Chr16:3025714
| THOC6 | V16M | Inborn genetic diseases | Uncertain significance (Oct 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075762
- GRCh38:
- Chr16:3025761
| THOC6 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075804
- GRCh38:
- Chr16:3025803
| THOC6 | Y45*, Y21* | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic/Likely pathogenic (Nov 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:3075805
- GRCh38:
- Chr16:3025804
| THOC6 | G46R, G22R | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic (Apr 26, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:3075808
- GRCh38:
- Chr16:3025807
| THOC6 | Q47*, Q23* | not provided | Pathogenic (Oct 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075923
- GRCh38:
- Chr16:3025922
| THOC6 | | not provided | Likely pathogenic (Oct 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3075999
- GRCh38:
- Chr16:3025998
| THOC6 | | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided | Benign (Sep 10, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3076078
- GRCh38:
- Chr16:3026077
| THOC6 | V79I, V55I | Inborn genetic diseases | Uncertain significance (Oct 5, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076102
- GRCh38:
- Chr16:3026101
| THOC6 | R87*, R63* | Inborn genetic diseases | Pathogenic (Jan 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076141
- Chr16:3077171
- Chr16:3077380
- GRCh38:
- Chr16:3026140
- Chr16:3027170
- Chr16:3027379
| THOC6, THOC6, THOC6 | W100R, W76R, V234L, V210L, G275D, G251D | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic (Nov 6, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:3076141
- GRCh38:
- Chr16:3026140
| THOC6 | W100R, W76R | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided
| Pathogenic/Likely pathogenic (Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3076142
- GRCh38:
- Chr16:3026141
| THOC6 | W100*, W76* | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Likely pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:3076167
- GRCh38:
- Chr16:3026166
| THOC6 | K108N, K84N | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (Oct 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076177
- GRCh38:
- Chr16:3026176
| THOC6 | | not provided | Likely benign (May 14, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076256
- GRCh38:
- Chr16:3026255
| THOC6 | C110Y, C86Y | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (Mar 25, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076270
- GRCh38:
- Chr16:3026269
| THOC6 | R115fs, R91fs | not provided | Likely pathogenic (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076360
- GRCh38:
- Chr16:3026359
| THOC6 | | Inborn genetic diseases | Uncertain significance (Dec 2, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076369
- GRCh38:
- Chr16:3026368
| THOC6 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076382
- GRCh38:
- Chr16:3026381
| THOC6 | P103S, P127S | Inborn genetic diseases | Uncertain significance (Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076384
- GRCh38:
- Chr16:3026383
| THOC6 | | not provided | Likely benign (Jul 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076393
- GRCh38:
- Chr16:3026392
| THOC6 | | not provided | Benign (May 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076405
- GRCh38:
- Chr16:3026404
| THOC6 | | not provided | Likely benign (Apr 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076541
- GRCh38:
- Chr16:3026540
| THOC6 | G122R, G146R | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (Jan 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076550
- GRCh38:
- Chr16:3026549
| THOC6 | Q125*, Q149* | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic (Jun 5, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076587
- GRCh38:
- Chr16:3026586
| THOC6 | T137M, T161M | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (Dec 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076667
- GRCh38:
- Chr16:3026666
| THOC6 | | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (Jun 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076692
- GRCh38:
- Chr16:3026691
| THOC6 | G142S, G166S | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, Inborn genetic diseases | Uncertain significance (Jul 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3076713
- GRCh38:
- Chr16:3026712
| THOC6 | C149R, C173R | Inborn genetic diseases | Uncertain significance (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076733
- GRCh38:
- Chr16:3026732
| THOC6 | R179S, R155S | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (Mar 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076749
- GRCh38:
- Chr16:3026748
| THOC6 | S185P, S161P | not provided | Uncertain significance (Jul 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076765
- GRCh38:
- Chr16:3026764
| THOC6 | G190E, G166E | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided | Conflicting interpretations of pathogenicity (Apr 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3076773
- GRCh38:
- Chr16:3026772
| THOC6 | R193*, R169* | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic (Oct 22, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:3076863
- GRCh38:
- Chr16:3026862
| THOC6 | | not provided | Likely benign (Jul 6, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076890
- GRCh38:
- Chr16:3026889
| THOC6 | | not provided | Likely benign (Feb 27, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3076892
- GRCh38:
- Chr16:3026891
| THOC6 | Q204P, Q180P | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic (Nov 7, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:3076899-3076913
- GRCh38:
- Chr16:3026898-3026912
| THOC6 | | | no interpretation for the single variant | no interpretation for the single variant |
| - GRCh37:
- Chr16:3076907
- GRCh38:
- Chr16:3026906
| THOC6 | Y209F, Y185F | Inborn genetic diseases | Uncertain significance (Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077030
- GRCh38:
- Chr16:3027029
| THOC6 | N195H, N219H | not provided | Likely benign (Apr 23, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077031
- GRCh38:
- Chr16:3027030
| THOC6 | N219S, N195S | Inborn genetic diseases | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077171
- GRCh38:
- Chr16:3027170
| THOC6 | V234L, V210L | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided
| Conflicting interpretations of pathogenicity (Nov 1, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:3077210
- GRCh38:
- Chr16:3027209
| THOC6 | R247*, R223* | not provided | Likely pathogenic (Sep 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077217
- GRCh38:
- Chr16:3027216
| THOC6 | S225F, S249F | | no interpretation for the single variant | no interpretation for the single variant |
| - GRCh37:
- Chr16:3077217
- Chr16:3076899-3076913
- GRCh38:
- Chr16:3027216
- Chr16:3026898-3026912
| THOC6, THOC6 | S225F, S249F | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Likely pathogenic (Nov 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077219
- GRCh38:
- Chr16:3027218
| THOC6 | T250P, T226P | Inborn genetic diseases | Uncertain significance (Jan 9, 2015) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077243
- GRCh38:
- Chr16:3027242
| THOC6 | R258W, R234W | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Uncertain significance (May 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3077260
- GRCh38:
- Chr16:3027259
| THOC6 | | not provided | Likely benign (Mar 5, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077263-3077264
- GRCh38:
- Chr16:3027262-3027263
| THOC6 | T241fs, T265fs | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Pathogenic (Oct 22, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:3077282
- GRCh38:
- Chr16:3027281
| THOC6 | | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Likely pathogenic (May 7, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077380
- GRCh38:
- Chr16:3027379
| THOC6 | G275D, G251D | Inborn genetic diseases, THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome, not provided
| Pathogenic/Likely pathogenic (Nov 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:3077385
- GRCh38:
- Chr16:3027384
| THOC6 | G277R, G253R | Inborn genetic diseases | Uncertain significance (Oct 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077393
- GRCh38:
- Chr16:3027392
| THOC6 | C255*, C279* | THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome | Likely pathogenic (Feb 5, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:3077394
- GRCh38:
- Chr16:3027393
| THOC6 | V256fs, V280fs | Inborn genetic diseases | Pathogenic (Apr 25, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077414
- GRCh38:
- Chr16:3027413
| THOC6 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077446
- GRCh38:
- Chr16:3027445
| THOC6 | P274fs, P298fs | not provided | Pathogenic (Jun 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077581
- GRCh38:
- Chr16:3027580
| THOC6 | | not provided | Likely benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:3077600
- GRCh38:
- Chr16:3027599
| THOC6 | S278T, S299T, S323T | Inborn genetic diseases | Uncertain significance (Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:256302-4852572
| ATP6V0C, PGAP6, RAB26, PIGQ, PRSS27, PRSS33, AXIN1, C16orf90, C16orf96, C1QTNF8, CACNA1H, BAIAP3, BICDL2, BRICD5, PGP, PRSS41, PTX4, RAB11FIP3, ABCA3, ADCY9, AMDHD2, ANKS3, ANTKMT, ARHGDIG, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GNG13, GNPTG, HAGH, HAGHL, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, RAB40C, RGS11, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | Saldino-Mainzer syndrome, Epilepsy, Idiopathic generalized epilepsy, Hyperaldosteronism, familial, type IV | Uncertain significance (Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:111043-6627459
| ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GLYR1, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PPL, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RBFOX1, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UBN1, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | See cases | Pathogenic | no assertion criteria provided |
| - GRCh37:
- Chr16:84485-5251013
| ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GLYR1, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, POLR3K, PPL, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG9, SNRNP25, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UBN1, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | not provided | Pathogenic (Nov 21, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2959279-30190593
| ABAT, ABCC1, ABCC6, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADCY9, ALDOA, ALG1, ANKS3, ANKS4B, APOBR, AQP8, ARHGAP17, ARL6IP1, ASPHD1, ATF7IP2, ATP2A1, ATXN2L, BCAR4, BFAR, BICDL2, BMERB1, BOLA2, C16orf54, C16orf82, C16orf89, C16orf90, C16orf92, C16orf96, CACNG3, CARHSP1, CCP110, CD19, CDIP1, CDIPT, CDR2, CEP20, CHP2, CIITA, CLDN6, CLDN9, CLEC16A, CLEC19A, CLN3, CLUAP1, COG7, COQ7, CORO7, CORO7-PAM16, CPPED1, CREBBP, CRYM, DCTN5, DCUN1D3, DEXI, DNAAF8, DNAH3, DNAJA3, DNASE1, DOC2A, EARS2, EEF2K, EEF2KMT, EIF3C, EIF3CL, EMP2, ERCC4, ERI2, ERN2, FLYWCH1, GDE1, GDPD3, GGA2, GLIS2, GLYR1, GP2, GPR139, GPRC5B, GRIN2A, GSG1L, GSPT1, GTF3C1, HAPSTR1, HCFC1R1, HIRIP3, HMOX2, HS3ST2, HS3ST4, IGSF6, IL21R, IL27, IL32, IL4R, INO80E, IQCK, ITPRIPL2, KATNIP, KCTD13, KDM8, KIF22, KNOP1, KREMEN2, LAT, LCMT1, LDAF1, LITAF, LYRM1, MAPK3, MARF1, MAZ, MEFV, METTL22, METTL9, MGRN1, MIR193B, MIR365A, MMP25, MOSMO, MPV17L, MRTFB, MTRNR2L4, MVP, MYH11, NAA60, NAGPA, NDE1, NDUFAB1, NFATC2IP, NLRC3, NMRAL1, NOMO1, NOMO2, NOMO3, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NSMCE1, NTAN1, NUBP1, NUDT16L1, NUPR1, OR1F1, OR2C1, OTOA, PAGR1, PALB2, PAM16, PAQR4, PARN, PDILT, PDXDC1, PDZD9, PKMYT1, PLA2G10, PLK1, PMM2, POLR3E, PPL, PPP4C, PRKCB, PRM1, PRM2, PRM3, PRRT2, QPRT, RABEP2, RBBP6, RBFOX1, RMI2, ROGDI, RPS15A, RRN3, RSL1D1, SBK1, SCNN1B, SCNN1G, SDR42E2, SEC14L5, SEPTIN12, SEZ6L2, SGF29, SH2B1, SHISA9, SLC5A11, SLX1B, SLX4, SMG1, SMIM22, SNN, SNX29, SOCS1, SPN, SPNS1, SRL, SULT1A1, SULT1A2, SULT1A4, SYT17, TAOK2, TBX6, TEKT5, TFAP4, THOC6, THUMPD1, TIGD7, TLCD3B, TMC5, TMC7, TMEM114, TMEM186, TMEM219, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TRAP1, TUFM, TVP23A, TXNDC11, UBALD1, UBFD1, UBN1, UMOD, UQCRC2, USP31, USP7, VASN, VPS35L, VWA3A, XPO6, XYLT1, YPEL3, ZC3H7A, ZG16, ZKSCAN2, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF75A, ZP2, ZSCAN10, ZSCAN32 | | See cases | Pathogenic (Sep 1, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr16:85880-5249457
| ABCA3, ADCY9, ALG1, AMDHD2, ANKS3, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf89, C16orf90, C16orf96, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CDIP1, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CRAMP1, CREBBP, DECR2, DNAAF8, DNAJA3, DNASE1, DNASE1L2, E4F1, ECI1, EEF2KMT, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GLIS2, GLYR1, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HMOX2, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MGRN1, MIR1225, MLST8, MMP25, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NAGPA, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NMRAL1, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, POLR3K, PPL, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, ROGDI, RPL3L, RPS2, RPUSD1, SEC14L5, SEPTIN12, SLX4, SMIM22, SNHG9, SNRNP25, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBALD1, UBE2I, UBN1, UNKL, UQCC4, VASN, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF500, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | not provided | Pathogenic (Jul 16, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:2651354-4614965
| ADCY9, BICDL2, C16orf90, C16orf96, CDIP1, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAJA3, DNASE1, ELOB, FLYWCH1, FLYWCH2, GLIS2, HCFC1R1, HMOX2, IL32, KCTD5, KREMEN2, MEFV, MMP25, MTRNR2L4, NAA60, NLRC3, NMRAL1, OR1F1, OR2C1, PAM16, PAQR4, PDPK1, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SLX4, SRL, SRRM2, TFAP4, THOC6, TIGD7, TNFRSF12A, TRAP1, VASN, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF75A, ZSCAN10, ZSCAN32 | | not provided | Pathogenic (Mar 13, 2019) | no assertion criteria provided |
| - GRCh37:
- Chr16:109978-4316797
| ABCA3, ADCY9, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BICDL2, BRICD5, C16orf90, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CHTF18, CIAO3, CLCN7, CLDN6, CLDN9, CLUAP1, CRAMP1, CREBBP, DECR2, DNASE1, DNASE1L2, E4F1, ECI1, ELOB, EME2, FAHD1, FAM234A, FBXL16, FLYWCH1, FLYWCH2, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HS3ST6, IFT140, IGFALS, IL32, JMJD8, JPT2, KCTD5, KREMEN2, LMF1, LUC7L, MAPK8IP3, MCRIP2, MEFV, MEIOB, METRN, METTL26, MIR1225, MLST8, MMP25, MPG, MRPL28, MRPS34, MSLN, MSRB1, MTRNR2L4, NAA60, NDUFB10, NHERF2, NHLRC4, NLRC3, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, OR1F1, OR2C1, PAQR4, PDIA2, PDPK1, PGAP6, PGP, PIGQ, PKD1, PKMYT1, PRR25, PRR35, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SLX4, SNHG9, SOX8, SPSB3, SRL, SRRM2, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TFAP4, THOC6, TIGD7, TMEM204, TNFRSF12A, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRAP1, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF213, ZNF263, ZNF597, ZNF598, ZNF75A, ZSCAN10, ZSCAN32 | | Chromosome 16p13.3 duplication syndrome | Pathogenic (Nov 1, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:88165-90274695
| MATCAP1, MAZ, MBTPS1, MC1R, MCRIP2, MEAK7, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MGRN1, MIR1225, MIR138-2, MIR140, MIR193B, MIR328, MIR365A, MLKL, MLST8, MLYCD, MMP15, MMP2, MMP25, MON1B, MOSMO, MPG, MPHOSPH6, MPV17L, MRPL28, MRPS34, MRTFB, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, MYL11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NDE1, NDRG4, NDUFAB1, NDUFB10, NECAB2, NETO2, NFAT5, NFATC2IP, NFATC3, NHERF2, NHLRC4, NIP7, NKD1, NLRC3, NLRC5, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NRN1L, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUDT21, NUDT7, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, OTOA, PABPN1L, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PDIA2, PDILT, PDP2, PDPK1, PDPR, PDXDC1, PDZD9, PGAP6, PGP, PHAF1, PHKB, PHKG2, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRR35, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, PRSS53, PRSS54, PRSS8, PSKH1, PSMB10, PSMD7, PSME3IP1, PTX4, PYCARD, PYDC1, QPRT, RAB11FIP3, RAB26, RAB40C, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RFWD3, RGS11, RHBDF1, RHBDL1, RHOT2, RIPOR1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SETD6, SEZ6L2, SF3B3, SGF29, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLC22A31, SLC38A7, SLC38A8, SLC5A11, SLC5A2, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SLX1A, SLX1B, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, STX1B, STX4, SULT1A1, SULT1A2, SULT1A3, SULT1A4, SYCE1L, SYNGR3, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2, TENT4B, TEPP, TERB1, TERF2, TERF2IP, TFAP4, TGFB1I1, THAP11, THOC6, THUMPD1, TIGD7, TK2, TLCD3B, TMC5, TMC7, TMED6, TMEM114, TMEM170A, TMEM186, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TOX3, TP53TG3, TP53TG3B, TP53TG3C, TP53TG3D, TPPP3, TPSAB1, TPSB2, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TRIM72, TSC2, TSNAXIP1, TSR3, TUBB3, TUFM, TVP23A, TXNDC11, TXNL4B, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, VAC14, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, YPEL3, ZC3H18, ZC3H7A, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF19, ZNF200, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF785, ZNF821, ZNF843, ZNRF1, ZP2, ZSCAN10, ZSCAN32, AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, AHSP, AKTIP, ALDOA, ALG1, AMDHD2, AMFR, ANKRD11, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, BEAN1, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRD7, BRICD5, C16orf46, C16orf47, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CCDC78, CCL17, CCL22, CCNF, CCNYL3, CCP110, CD19, CD2BP2, CDH1, CDH11, CDH13, CDH15, CDH16, CDH3, CDH5, CDH8, CDIP1, CDIPT, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP119, CFAP20, CFDP1, CHD9, CHMP1A, CHP2, CHST4, CHST5, CHST6, CHTF18, CHTF8, CIAO2B, CIAO3, CIAPIN1, CIBAR2, CIITA, CKLF, CKLF-CMTM1, CLCN7, CLDN6, CLDN9, CLEC16A, CLEC18A, CLEC18B, CLEC18C, CLEC19A, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, COQ9, CORO1A, CORO7, CORO7-PAM16, COTL1, COX4I1, COX6A2, CPNE2, CPNE7, CPPED1, CRAMP1, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CTF1, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DCTN5, DCTPP1, DCUN1D3, DDX19A, DDX19B, DDX28, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, DNAAF8, DNAH3, DNAJA2, DNAJA3, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, E4F1, EARS2, ECI1, EDC4, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELMO3, ELOB, EMC8, EME2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLYWCH1, FLYWCH2, FOXC2, FOXF1, FOXL1, FTO, FUS, GABARAPL2, GALNS, GAN, GAS8, GAS8-AS1, GCSH, GDE1, GDPD3, GFER, GFOD2, GGA2, GINS2, GINS3, GLG1, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HEATR3, HERPUD1, HIRIP3, HMOX2, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSBP1, HSD11B2, HSD17B2, HSD3B7, HSDL1, HSF4, HYDIN, IFT140, IGFALS, IGSF6, IL17C, IL21R, IL27, IL32, IL34, IL4R, INO80E, IQCK, IRF8, IRX3, IRX5, IRX6, IST1, ITFG1, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JMJD8, JPH3, JPT2, KARS1, KAT8, KATNB1, KATNIP, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, LUC7L, LYRM1, MAF, MAP1LC3B, MAPK3, MAPK8IP3, MARF1, MARVELD3 | | not provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr16:88165-90163275
| CIAO3, CIAPIN1, DCTPP1, GAN, IGSF6, IL17C, IL21R, LYRM1, MAF, NDE1, NDRG4, OTOA, PRSS53, SGF29, TOX3, TP53TG3, SLC5A11, SLC5A2, SLC6A2, SLC7A5, SLC7A6, SLC7A6OS, SLC9A5, SLX1A, SLX1B, SLC22A31, SLC38A7, SLC38A8, PSMD7, PSME3IP1, RAB11FIP3, PSKH1, PSMB10, PTX4, PYCARD, PYDC1, QPRT, RAB26, RAB40C, PRSS54, PRSS8, PDPK1, PDPR, PDXDC1, PAGR1, PALB2, PAM16, PAQR4, PARD6A, PARN, PDF, PDIA2, PABPN1L, PDILT, PDP2, NFATC3, NHERF2, NHLRC4, NFATC2IP, NIP7, NKD1, NLRC3, NLRC5, NECAB2, NDUFAB1, NDUFB10, NETO2, NFAT5, MCRIP2, MEAK7, MAPK3, MAPK8IP3, MARF1, MARVELD3, MAP1LC3B, MC1R, MGRN1, MIR1225, MIR138-2, MATCAP1, MAZ, MBTPS1, IL34, IRX6, IST1, IL4R, INO80E, IL27, IL32, IQCK, IRF8, IRX3, IRX5, ITFG1, GINS2, GINS3, GLG1, GAS8, GAS8-AS1, GCSH, GDE1, GFER, GFOD2, GDPD3, GGA2, DNAAF8, DCUN1D3, DDX19A, DNAH3, DNAJA2, DNAJA3, DDX19B, DDX28, DECR2, DEF8, DEXI, DHODH, DHX38, DNAAF1, CIBAR2, CLDN6, CLEC18A, CLEC18B, CLDN9, CIITA, CKLF, CKLF-CMTM1, CLCN7, CLEC16A, CFDP1, CHD9, CHMP1A, CHP2, CHST4, CHST5, CHST6, CHTF18, CHTF8, CIAO2B, CLEC18C, CLEC19A, CLEC3A, CLN3, CLUAP1, CMC2, CMIP, CMTM1, CMTM2, CMTM3, CMTM4, CMTR2, CNEP1R1, CNGB1, CNOT1, CNTNAP4, COG4, COG7, COG8, COQ7, COQ9, CORO1A, CORO7, CORO7-PAM16, COTL1, COX4I1, COX6A2, CPNE2, CPNE7, CPPED1, CRAMP1, CREBBP, CRISPLD2, CRYM, CSNK2A2, CTCF, CTF1, CTRB1, CTRB2, CTRL, CTU2, CX3CL1, CYB5B, CYBA, CYLD, DBNDD1, DCTN5, DNASE1, DNASE1L2, DOC2A, DOK4, DPEP1, DPEP2, DPEP3, DRC7, DUS2, DYNC1LI2, DYNLRB2, E2F4, E4F1, EARS2, ECI1, EDC4, EEF2K, EEF2KMT, EIF3C, EIF3CL, ELMO3, ELOB, EMC8, EME2, EMP2, ENKD1, ERCC4, ERI2, ERN2, ESRP2, EXOC3L1, EXOSC6, FA2H, FAHD1, FAM234A, FANCA, FBRS, FBXL16, FBXL19, FBXL8, FBXO31, FCSK, FENDRR, FHOD1, FLYWCH1, FLYWCH2, FOXC2, FOXF1, FOXL1, FTO, FUS, GABARAPL2, GALNS, GLIS2, GLYR1, GNAO1, GNG13, GNPTG, GOT2, GP2, GPR139, GPRC5B, GPT2, GRIN2A, GSE1, GSG1L, GSPT1, GTF3C1, HAGH, HAGHL, HAPSTR1, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HCFC1R1, HEATR3, HERPUD1, HIRIP3, HMOX2, HP, HPR, HS3ST2, HS3ST4, HS3ST6, HSBP1, HSD11B2, HSD17B2, HSD3B7, HSDL1, HSF4, HYDIN, IFT140, IGFALS, ITGAD, ITGAL, ITGAM, ITGAX, ITPRIPL2, JMJD8, JPH3, JPT2, KARS1, KAT8, KATNB1, KATNIP, KCNG4, KCTD13, KCTD19, KCTD5, KDM8, KIAA0513, KIF22, KIFC3, KLHDC4, KLHL36, KNOP1, KRBOX5, KREMEN2, LAT, LCAT, LCMT1, LDAF1, LDHD, LINC01082, LINC02911, LITAF, LMF1, LOC101927817, LOC101928417, LOC400541, LOC654780, LONP2, LPCAT2, LRRC29, LRRC36, LUC7L, MEFV, MEIOB, METRN, METTL22, METTL26, METTL9, MIR140, MIR193B, MIR328, MIR365A, MLKL, MLST8, MLYCD, MMP15, MMP2, MMP25, MON1B, MOSMO, MPG, MPHOSPH6, MPV17L, MRPL28, MRPS34, MRTFB, MSLN, MSRB1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MT4, MTHFSD, MTRNR2L4, MTSS2, MVD, MVP, MYH11, MYL11, MYLK3, N4BP1, NAA60, NAE1, NAGPA, NME3, NME4, NMRAL1, NOB1, NOD2, NOL3, NOMO1, NOMO2, NOMO3, NOXO1, NPIPA1, NPIPA2, NPIPA3, NPIPA5, NPIPB15, NPIPB3, NPIPB4, NPIPB5, NPIPB6, NPRL3, NPW, NQO1, NRN1L, NSMCE1, NTAN1, NTHL1, NTN3, NUBP1, NUBP2, NUDT16L1, NUDT21, NUDT7, NUP93, NUPR1, NUTF2, OGFOD1, OR1F1, OR2C1, ORAI3, ORC6, OSGIN1, PDZD9, PGAP6, PGP, PHAF1, PHKB, PHKG2, PHLPP2, PIEZO1, PIGQ, PKD1, PKD1L2, PKD1L3, PKMYT1, PLA2G10, PLA2G15, PLCG2, PLEKHG4, PLK1, PLLP, PMFBP1, PMM2, POLR2C, POLR3E, POLR3K, PPL, PPP4C, PRDM7, PRKCB, PRM1, PRM2, PRM3, PRMT7, PRR14, PRR25, PRR35, PRRT2, PRSS21, PRSS22, PRSS27, PRSS33, PRSS36, PRSS41, RABEP2, RANBP10, RBBP6, RBFOX1, RBL2, RFWD3, RGS11, RHBDF1, RHBDL1, RHOT2, RIPOR1, RMI2, RNF151, RNF166, RNF40, RNPS1, ROGDI, RPGRIP1L, RPL13, RPL3L, RPS15A, RPS2, RPUSD1, RRAD, RRN3, RSL1D1, RSPRY1, RUSF1, SALL1, SBK1, SCNN1B, SCNN1G, SDR42E1, SDR42E2, SEC14L5, SEPHS2, SEPTIN1, SEPTIN12, SETD1A, SETD6, SEZ6L2, SF3B3, SH2B1, SHCBP1, SHISA9, SIAH1, SLC12A3, SLC12A4, SLX4, SMG1, SMIM22, SMPD3, SNAI3, SNHG9, SNN, SNRNP25, SNTB2, SNX20, SNX29, SOCS1, SOX8, SPATA2L, SPATA33, SPG7, SPIRE2, SPN, SPNS1, SPSB3, SRCAP, SRL, SRRM2, SSTR5, ST3GAL2, STUB1, STX1B, STX4, SULT1A1, SULT1A2, TP53TG3B, AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, ACSM5, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, AHSP, AKTIP, ALDOA, ALG1, AMDHD2, AMFR, ANKRD11, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, BEAN1, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRD7, BRICD5, C16orf46, C16orf47, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CCDC78, CCL17, CCL22, CCNF, CCNYL3, CCP110, CD19, CD2BP2, CDH1, CDH11, CDH13, CDIPT, CDH15, CDH16, CDH3, CDH5, CDH8, CDIP1, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP119, CFAP20, SULT1A3, SULT1A4, SYCE1L, SYNGR3, SYT17, TAF1C, TANGO6, TAOK2, TAT, TBC1D10B, TBC1D24, TBL3, TBX6, TCF25, TEDC2, TEKT5, TELO2, TENT4B, TEPP, TERB1, TERF2, TERF2IP, TFAP4, TGFB1I1, THAP11, THOC6, THUMPD1, TIGD7, TK2, TLCD3B, TMC5, TMC7, TMED6, TMEM114, TMEM170A, TMEM186, TMEM204, TMEM208, TMEM219, TMEM231, TNFRSF12A, TNFRSF17, TNP2, TNRC6A, TP53TG3C, TP53TG3D, TPPP3, TPSAB1, TPSB2, TPSD1, TPSG1, TRADD, TRAF7, TRAP1, TRAPPC2L, TRIM72, TSC2, TSNAXIP1, TSR3, TUBB3, TUFM, TVP23A, TXNDC11, TXNL4B, UBALD1, UBE2I, UBFD1, UBN1, UMOD, UNKL, UQCC4, UQCRC2, USB1, USP10, USP31, USP7, UTP4, VAC14, VASN, VAT1L, VKORC1, VPS35, VPS35L, VPS4A, VPS9D1, VWA3A, WDR24, WDR59, WDR90, WFDC1, WFIKKN1, WWOX, WWP2, XPO6, XYLT1, YPEL3, ZC3H18, ZC3H7A, ZCCHC14, ZCCHC14-DT, ZDHHC1, ZDHHC7, ZFHX3, ZFP1, ZFP90, ZFPM1, ZG16, ZG16B, ZKSCAN2, ZNF174, ZNF19, ZNF200, ZNF205, ZNF213, ZNF23, ZNF263, ZNF267, ZNF276, ZNF319, ZNF423, ZNF469, ZNF48, ZNF500, ZNF597, ZNF598, ZNF629, ZNF646, ZNF668, ZNF688, ZNF689, ZNF747, ZNF75A, ZNF764, ZNF768, ZNF771, ZNF778, ZNF785, ZNF821, ZNF843, ZNRF1, ZP2, ZSCAN10, ZSCAN32 | | not provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:61451-90294632
| AARS1, ABAT, ABCA3, ABCC1, ABCC11, ABCC12, ABCC6, ACD, ACSF3, ACSM1, ACSM2A, ACSM2B, ACSM3, ACSM5, ADAD2, ADAMTS18, ADAT1, ADCY7, ADCY9, ADGRG1, ADGRG3, ADGRG5, AGRP, AHSP, AKTIP, ALDOA, ALG1, AMDHD2, AMFR, ANKRD11, ANKS3, ANKS4B, ANTKMT, AP1G1, APOBR, APRT, AQP8, ARHGAP17, ARHGDIG, ARL2BP, ARL6IP1, ARMC5, ASPHD1, ATF7IP2, ATMIN, ATP2A1, ATP2C2, ATP6V0C, ATP6V0D1, ATXN1L, ATXN2L, AXIN1, B3GNT9, BAIAP3, BANP, BBS2, BCAR1, BCAR4, BCKDK, BCL7C, BCO1, BEAN1, BFAR, BICDL2, BMERB1, BOLA2, BOLA2B, BRD7, BRICD5, C16orf46, C16orf47, C16orf54, C16orf74, C16orf78, C16orf82, C16orf86, C16orf87, C16orf89, C16orf90, C16orf92, C16orf95, C16orf96, C1QTNF8, CA5A, CA7, CACNA1H, CACNG3, CALB2, CAPN15, CAPNS2, CARHSP1, CARMIL2, CASKIN1, CBFA2T3, CBFB, CBLN1, CCDC102A, CCDC113, CCDC154, CCDC78, CCL17, CCL22, CCNF, CCNYL3, CCP110, CD19, CD2BP2, CDH1, CDH11, CDH13, CDIPT, CDH15, CDH16, CDH3, CDH5, CDH8, CDIP1, CDK10, CDR2, CDT1, CDYL2, CEMP1, CENPBD1, CENPN, CENPT, CEP20, CES1, CES2, CES3, CES4A, CES5A, CETP, CFAP119, CFAP20, CFDP1, CHD9, CHMP1A, CHP2, CHST4, CHST5, |