| - 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:
- Chr16:79941-2610461
- GRCh38:
- Chr16:29941-2560460
| ABCA3, AMDHD2, ANTKMT, ARHGDIG, ATP6V0C, AXIN1, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CAPN15, CASKIN1, CCDC154, CCDC78, CCNF, CEMP1, CEROX1, CHTF18, CIAO3, CLCN7, CRAMP1, DECR2, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FAM234A, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HBA-LCR, HBA1, HBA2, HBM, HBQ1, HBZ, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LINC00235, LINC00254, LINC02124, LMF1, LMF1-AS1, LOC100134368, LOC100287175, LOC105371038, LOC105371046, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC115253417, LOC116268480, LOC121530606, LOC121530607, LOC121530608, LOC121530609, LOC121530610, LOC121530611, LOC121847967, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC126862260, 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, MPG, MRPL28, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NHLRC4, NME3, NME4, NOXO1, NPRL3, NPW, NTHL1, NTN3, NUBP2, PDIA2, PDPK1, PERCC1, PGAP6, PGP, PIGQ, PKD1, PKD1-AS1, POLR3K, PRR25, PRR35, PTX4, RAB11FIP3, RAB26, RAB40C, RGS11, RHBDF1, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG19, SNHG9, SNORA10, SNORA64, SNORA78, SNORD60, SNRNP25, SOX8, SPSB3, SSTR5, SSTR5-AS1, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TEDC2-AS1, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TRG-CCC2-2, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 | | 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:
- Chr16:1271651-2283774
- GRCh38:
- Chr16:1221651-2233773
| BAIAP3, BRICD5, CACNA1H, CASKIN1, CCDC154, CLCN7, CRAMP1, E4F1, EME2, FAHD1, GFER, GNPTG, HAGH, HS3ST6, IFT140, IGFALS, JPT2, LINC00254, LINC02124, LOC105371046, LOC106799915, LOC112340386, LOC112340387, LOC115253417, LOC116268480, LOC121530609, LOC121530610, LOC125146371, LOC125146372, LOC125146375, LOC125146377, LOC126862260, MAPK8IP3, MAPK8IP3-AS1, MEIOB, MIR1225, MIR3177, MIR3180-5, MIR4516, MIR6511B1, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PERCC1, PGP, PKD1, PKD1-AS1, PTX4, RAB26, RNF151, RPL3L, RPS2, SNHG19, SNHG9, SNORA10, SNORA64, SNORA78, SNORD60, SPSB3, SYNGR3, TBL3, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, UQCC4, ZNF598 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh38:
- Chr16:2047157-2220112
| BRICD5, CASKIN1, LOC112340386, LOC112340387, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, NTHL1, PGP, PKD1, PKD1-AS1, RAB26, SNHG19, SNORD60, TRAF7, TSC2 | | Tuberous sclerosis 2 | Pathogenic (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh38:
- Chr16:2066081-2241220
| BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, LOC112340386, LOC112340387, MIR1225, MIR3180-5, MIR4516, MIR6511B1, MLST8, PGP, PKD1, PKD1-AS1, RAB26, SNHG19, SNORD60, TRAF7, TSC2 | | Tuberous sclerosis 2 | Pathogenic (Jul 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2127606-2334390
- GRCh38:
- Chr16:2077605-2284389
| LOC112340386, LOC112340387, MIR1225, MIR3180-5, ABCA3, BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR3677, MIR3677HG, MIR4516, MIR4717, MIR6511B1, MIR940, MLST8, PGP, PKD1, PKD1-AS1, RAB26, RNPS1, SNHG19, SNORD60, TRAF7, TSC2 | | Endometrial carcinoma | Uncertain significance (Jan 1, 2014) | no assertion criteria provided |
| - GRCh37:
- Chr16:2213922
- GRCh38:
- Chr16:2163921
| TRAF7 | M1V | not provided | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2213952
- GRCh38:
- Chr16:2163951
| TRAF7 | R11C | Inborn genetic diseases | Likely benign (May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2213977
- GRCh38:
- Chr16:2163976
| TRAF7 | L19P | not specified | Uncertain significance (Oct 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2214007-2214015
- GRCh38:
- Chr16:2164006-2164014
| TRAF7 | | not provided | Benign (Jul 31, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2215919
- GRCh38:
- Chr16:2165918
| TRAF7 | V41I | Inborn genetic diseases | Uncertain significance (Nov 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2218090
- GRCh38:
- Chr16:2168089
| TRAF7 | S51N | Inborn genetic diseases | Likely benign (Oct 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2218097
- GRCh38:
- Chr16:2168096
| TRAF7 | Y53* | not specified | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2218138
- GRCh38:
- Chr16:2168137
| TRAF7 | A67G | Inborn genetic diseases | Likely benign (Oct 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2218143
- GRCh38:
- Chr16:2168142
| TRAF7 | S69P | Inborn genetic diseases | Uncertain significance (Nov 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2220631
- GRCh38:
- Chr16:2170630
| TRAF7 | P83L | not provided | Uncertain significance (Aug 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2221274
- GRCh38:
- Chr16:2171273
| TRAF7 | V120M | not provided | Uncertain significance (Aug 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2222193
- GRCh38:
- Chr16:2172192
| TRAF7 | E159D | Inborn genetic diseases | Uncertain significance (Mar 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2222300
- GRCh38:
- Chr16:2172299
| TRAF7 | A195V | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Sep 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2222367
- GRCh38:
- Chr16:2172366
| TRAF7 | S217R | not provided | Uncertain significance (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2222368
- GRCh38:
- Chr16:2172367
| TRAF7 | A218S | Inborn genetic diseases | Uncertain significance (May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2222594
- GRCh38:
- Chr16:2172593
| TRAF7 | K263T | Global developmental delay | Uncertain significance (Dec 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2222598
- GRCh38:
- Chr16:2172597
| TRAF7 | | not provided | Benign (Dec 31, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223188
- GRCh38:
- Chr16:2173187
| TRAF7 | T267M | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223334
- GRCh38:
- Chr16:2173333
| TRAF7 | R316C | Inborn genetic diseases | Uncertain significance (May 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223357
- GRCh38:
- Chr16:2173356
| TRAF7 | | not provided | Likely benign (Jun 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223362
- GRCh38:
- Chr16:2173361
| TRAF7 | K325R | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223477
- GRCh38:
- Chr16:2173476
| TRAF7 | | not provided | Uncertain significance (Oct 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223483
- GRCh38:
- Chr16:2173482
| TRAF7 | | Cardiac, facial, and digital anomalies with developmental delay, not provided | Conflicting interpretations of pathogenicity (Jun 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2223505
- GRCh38:
- Chr16:2173504
| TRAF7 | K346E | Cardiac, facial, and digital anomalies with developmental delay | Pathogenic (Oct 31, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:2223530-2223536
- GRCh38:
- Chr16:2173529-2173535
| TRAF7 | | not provided | Uncertain significance (Aug 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223532
- GRCh38:
- Chr16:2173531
| TRAF7 | R355W | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Jul 17, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223541
- GRCh38:
- Chr16:2173540
| TRAF7 | A358T | Inborn genetic diseases | Uncertain significance (Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223791
- GRCh38:
- Chr16:2173790
| TRAF7 | D363E | not provided | Uncertain significance (Jul 10, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223813
- GRCh38:
- Chr16:2173812
| TRAF7 | R371W | not provided | Uncertain significance (Sep 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223813
- GRCh38:
- Chr16:2173812
| TRAF7 | R371G | Cardiac, facial, and digital anomalies with developmental delay | Pathogenic (Oct 31, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:2223814
- GRCh38:
- Chr16:2173813
| TRAF7 | R371Q | Cardiac, facial, and digital anomalies with developmental delay | Likely pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223844
- GRCh38:
- Chr16:2173843
| TRAF7 | | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2223990
- GRCh38:
- Chr16:2173989
| TRAF7 | L402V | not provided | Pathogenic (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2224261
- GRCh38:
- Chr16:2174260
| TRAF7 | T425S | not provided | Likely pathogenic (Aug 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2224276
- GRCh38:
- Chr16:2174275
| TRAF7 | K430E | not provided | Pathogenic (Jan 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2224297
- GRCh38:
- Chr16:2174296
| TRAF7 | G437S | Inborn genetic diseases | Uncertain significance (Aug 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225111
- GRCh38:
- Chr16:2175110
| TRAF7 | | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Jun 8, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225386
- GRCh38:
- Chr16:2175385
| TRAF7 | V491M | Inborn genetic diseases | Likely benign (Jun 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225507
- GRCh38:
- Chr16:2175506
| TRAF7 | D504H | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Dec 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225564
- GRCh38:
- Chr16:2175563
| TRAF7 | V523L | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Oct 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225567
- GRCh38:
- Chr16:2175566
| TRAF7 | R524W | Cardiac, facial, and digital anomalies with developmental delay, not provided | Pathogenic/Likely pathogenic (Jul 9, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr16:2225611
- GRCh38:
- Chr16:2175610
| TRAF7 | Y538* | not provided | Uncertain significance (Aug 30, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225868
- GRCh38:
- Chr16:2175867
| TRAF7 | V554I | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Jan 5, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225881
- GRCh38:
- Chr16:2175880
| TRAF7 | S558F | not provided | Pathogenic (Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225923
- GRCh38:
- Chr16:2175922
| TRAF7 | I572T | Inborn genetic diseases | Uncertain significance (Nov 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2225946
- GRCh38:
- Chr16:2175945
| TRAF7 | L580F | not provided | Uncertain significance (Apr 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226086
- GRCh38:
- Chr16:2176085
| TRAF7 | L595V | Cardiac, facial, and digital anomalies with developmental delay | Likely pathogenic (Sep 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226090
- GRCh38:
- Chr16:2176089
| TRAF7 | T596M | Cardiac, facial, and digital anomalies with developmental delay | Uncertain significance (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226101
- GRCh38:
- Chr16:2176100
| TRAF7 | G600S | Cardiac, facial, and digital anomalies with developmental delay | Conflicting interpretations of pathogenicity (Dec 2, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2226104
- GRCh38:
- Chr16:2176103
| TRAF7 | T601A | Cardiac, facial, and digital anomalies with developmental delay | Pathogenic (Oct 31, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr16:2226134-2226138
- GRCh38:
- Chr16:2176133-2176137
| TRAF7 | T614fs | Seizure | Uncertain significance (Feb 23, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226147
- GRCh38:
- Chr16:2176146
| TRAF7 | K615R | not provided | Uncertain significance (Jun 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226168
- GRCh38:
- Chr16:2176167
| TRAF7 | D622G | not provided | Uncertain significance (May 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226176
- GRCh38:
- Chr16:2176175
| TRAF7 | L625V | See cases | Likely pathogenic (Apr 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226273
- GRCh38:
- Chr16:2176272
| TRAF7 | S629N | Cardiac, facial, and digital anomalies with developmental delay | Likely pathogenic (Nov 11, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2226306
- GRCh38:
- Chr16:2176305
| TRAF7 | L640P | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, Cardiac, facial, and digital anomalies with developmental delay | Conflicting interpretations of pathogenicity (Apr 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2226351
- GRCh38:
- Chr16:2176350
| TRAF7 | R655Q | Cardiac, facial, and digital anomalies with developmental delay, TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome, not provided, TRAF7-related syndrome, Inborn genetic diseases | Conflicting interpretations of pathogenicity (Jun 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr16:2226361-2226362
- GRCh38:
- Chr16:2176360-2176361
| TRAF7 | A660fs | not provided | Uncertain significance (Feb 18, 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:
- Chr16:2106895-2227470
| CASKIN1, MIR1225, PKD1, RAB26, TRAF7, TSC2 | | not provided | Likely pathogenic (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr16:1942430-2653144
| ABCA3, AMDHD2, ATP6V0C, BRICD5, CASKIN1, CCNF, CEMP1, DNASE1L2, E4F1, ECI1, GFER, HS3ST6, MIR1225, MLST8, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, PDPK1, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 | | not provided | Uncertain significance (Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2021144-2266791
| BRICD5, CASKIN1, GFER, MIR1225, MLST8, NOXO1, NPW, NTHL1, PGP, PKD1, RAB26, SLC9A3R2, SYNGR3, TBL3, TRAF7, TSC2, ZNF598 | | not provided | Pathogenic (Jul 30, 2021) | 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:
- Chr16:1847662-2653144
| ABCA3, AMDHD2, ATP6V0C, BRICD5, CASKIN1, CCNF, CEMP1, DNASE1L2, E4F1, ECI1, FAHD1, GFER, HAGH, HS3ST6, MEIOB, MIR1225, MLST8, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, PDPK1, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 | | not specified | Uncertain significance (Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:1830141-2592737
| ABCA3, AMDHD2, ATP6V0C, BRICD5, CASKIN1, CCNF, CEMP1, DNASE1L2, E4F1, ECI1, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MEIOB, MIR1225, MLST8, MSRB1, NDUFB10, NHERF2, NOXO1, NPW, NTHL1, NTN3, NUBP2, PDPK1, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBC1D24, TBL3, TEDC2, TRAF7, TSC2, ZNF598 | | not provided | Uncertain significance (Apr 1, 2021) | 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:
- Chr16:2098597-2550979
| ABCA3, CASKIN1, CCNF, DNASE1L2, E4F1, ECI1, MIR1225, NTN3, MLST8, PGP, BRICD5, PKD1, RAB26, RNPS1, TBC1D24, TEDC2, TRAF7, TSC2 | | Caused by mutation in the TBC1 domain family, member 24, Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy, 1
| Uncertain significance (Apr 13, 2020) | criteria provided, single submitter |
| - 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:
- Chr16:2157801-2288100
| BRICD5, CASKIN1, DNASE1L2, E4F1, MLST8, PGP, PKD1, RAB26, TRAF7 | | Autosomal dominant polycystic kidney disease | Pathogenic (Jan 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:624055-2550979
| ABCA3, ANTKMT, BAIAP3, BRICD5, C1QTNF8, CACNA1H, CASKIN1, CCDC154, CCDC78, CCNF, CHTF18, CIAO3, CLCN7, CRAMP1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, FBXL16, GFER, GNG13, GNPTG, HAGH, HAGHL, HS3ST6, IFT140, IGFALS, JMJD8, JPT2, LMF1, MAPK8IP3, MCRIP2, MEIOB, METRN, METTL26, MIR1225, MLST8, MRPS34, MSLN, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NTN3, NUBP2, PGP, PIGQ, PKD1, PRR25, PTX4, RAB26, RAB40C, RHBDL1, RHOT2, RNF151, RNPS1, RPL3L, RPS2, RPUSD1, SNHG9, SOX8, SPSB3, SSTR5, STUB1, SYNGR3, TBC1D24, TBL3, TEDC2, TELO2, TMEM204, TPSAB1, TPSB2, TPSD1, TPSG1, TRAF7, TSC2, TSR3, UBE2I, UNKL, UQCC4, WDR24, WDR90, WFIKKN1, ZNF598 | | Idiopathic generalized epilepsy, Hyperaldosteronism, familial, type IV | Uncertain significance (Aug 14, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr16:2070917-2592737
| ABCA3, AMDHD2, ATP6V0C, BRICD5, CASKIN1, CCNF, CEMP1, DNASE1L2, E4F1, ECI1, MIR1225, MLST8, NTHL1, NTN3, PDPK1, PGP, PKD1, RAB26, RNPS1, SLC9A3R2, TBC1D24, TEDC2, TRAF7, TSC2 | | not provided | Uncertain significance (Aug 11, 2017) | 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:
- Chr16:2130259-2319717
| PKD1, DNASE1L2, MLST8, RAB26, MIR1225, CASKIN1, TSC2, ECI1, PGP, RNPS1, E4F1, BRICD5, TRAF7 | | not provided | Benign (Mar 13, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2130243-2228644
| MIR1225, RAB26, PKD1, TRAF7, CASKIN1, TSC2 | | not provided | Benign (Mar 15, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2130190-2319717
| MLST8, RAB26, PKD1, E4F1, RNPS1, TRAF7, PGP, MIR1225, ECI1, BRICD5, TSC2, DNASE1L2, CASKIN1 | | not provided | Benign (Mar 7, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2130190-2311160
| PGP, MLST8, ECI1, E4F1, BRICD5, TSC2, MIR1225, RNPS1, DNASE1L2, RAB26, CASKIN1, TRAF7, PKD1 | | not provided | Benign (Mar 5, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr16:2130190-2301527
| MIR1225, PGP, ECI1, E4F1, DNASE1L2, RAB26, CASKIN1, MLST8, BRICD5, PKD1, TSC2, TRAF7 | | not provided | Benign (Feb 15, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2218090-2247362
| TRAF7, CASKIN1 | | not provided | Benign (Mar 6, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2215858-2324303
| PGP, E4F1, RNPS1, ECI1, CASKIN1, BRICD5, DNASE1L2, TRAF7, MLST8 | | not provided | Benign (Dec 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr16:2142976-2311160
| RAB26, RNPS1, BRICD5, ECI1, DNASE1L2, E4F1, PKD1, MLST8, CASKIN1, TRAF7, PGP | | not provided | Benign (Mar 9, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2142103-2311160
| DNASE1L2, E4F1, CASKIN1, RAB26, MLST8, PKD1, BRICD5, ECI1, RNPS1, PGP, TRAF7 | | not provided | Benign (Mar 8, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2142103-2229887
| CASKIN1, PKD1, RAB26, TRAF7 | | not provided | Benign (Mar 15, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2140554-2311160
| PGP, MLST8, RAB26, ECI1, BRICD5, DNASE1L2, CASKIN1, TRAF7, E4F1, RNPS1, PKD1 | | not provided | Benign (Mar 13, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2138508-2240341
| CASKIN1, RAB26, PKD1, TRAF7, TSC2, MIR1225 | | not provided | Benign (Mar 11, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2133701-2319717
| MIR1225, E4F1, PKD1, RAB26, PGP, TSC2, TRAF7, BRICD5, RNPS1, DNASE1L2, ECI1, MLST8, CASKIN1 | | not provided | Benign (Mar 13, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2132731-2311160
| CASKIN1, PGP, ECI1, MIR1225, TSC2, RAB26, E4F1, BRICD5, DNASE1L2, MLST8, PKD1, TRAF7, RNPS1 | | not provided | Benign (Mar 12, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2132731-2294549
| ECI1, E4F1, TSC2, RAB26, MIR1225, TRAF7, DNASE1L2, BRICD5, PGP, PKD1, CASKIN1, MLST8 | | not provided | Benign (Mar 11, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:2132731-2218079
| RAB26, TRAF7, PKD1, TSC2, MIR1225 | | not provided | Benign (Mar 6, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr16:1813658-2319717
| BRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, EME2, FAHD1, GFER, HAGH, HS3ST6, IGFALS, MAPK8IP3, MEIOB, MIR1225, MLST8, MRPS34, MSRB1, NDUFB10, NHERF2, NME3, NOXO1, NPW, NTHL1, NUBP2, PGP, PKD1, RAB26, RNF151, RNPS1, RPL3L, RPS2, SNHG9, SPSB3, SYNGR3, TBL3, TRAF7, TSC2, ZNF598 | | not provided | Benign (Mar 13, 2013) | no assertion criteria provided |