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Items: 39

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr16:73141-11390552
GRCh38:
Chr16:23141-11296695
ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, GFER, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, IGFALS, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, AXIN1, SOCS1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, SNORA64, SNORD60, DEXI, C16orf72, UBN1, CDIP1, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1, RAB40C, PRM3, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, LINC00235, TPSB2, HS3ST6, PDIA2, TRG-CCC2-2, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, ZNF205-AS1, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, VASN, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, PRR35, FBXL16, SSTR5-AS1, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, LINC00514, LINC00921, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, SMIM22, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, LOC729652, SNHG9, CEMP1, TVP23A, MIR940, LOC100128770, SRRM2-AS1, LOC100130283, WASIR2, LOC100134368, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100287175, MIR3178, MIR3177, MIR3176, MTRNR2L4, MIR3677, MIR3180-5, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, LINC01569, NAGPA-AS1, CORO7-PAM16, MIR4717, MIR4516, MIR5587, GLIS2-AS1, LINC01570, LINC02177, LMF1-AS1, LOC101929613, LITAFD, MIR6126, MIR6511B1, MIR6767, MIR6768, MIR8065, MIR6769A, LINC02861, LINC01195, LINC01177, LOC105371038, PERCC1, LOC105371046, LINC02124, LOC105371049, LINC02164, LINC02152, HBA-LCR, LINC01290, LOC106660606, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, SNORA3C, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058594
2.
GRCh37:
Chr16:93732-13420663
GRCh38:
Chr16:43732-13326806
ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, TNFRSF17, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, GFER, GRIN2A, GSPT1, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, IGFALS, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, SNN, AXIN1, SOCS1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, LITAF, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, RSL1D1, SNORA64, SNORD60, DEXI, C16orf72, ZC3H7A, UBN1, CDIP1, SOX8, AMDHD2, PAM16, TXNDC11, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, CPPED1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1, RAB40C, PRM3, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, LINC00235, TPSB2, HS3ST6, PDIA2, TRG-CCC2-2, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, ZNF205-AS1, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, SNX29, RPUSD1, FLYWCH2, VASN, TSR3, RMI2, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, PRR35, FBXL16, SSTR5-AS1, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, LINC00514, LINC00921, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, LOC400499, BCAR4, SMIM22, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, LOC729652, NPIPB2, SHISA9, SNHG9, CEMP1, TVP23A, MIR940, LOC100128770, SRRM2-AS1, LOC100130283, LOC100134368, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100287175, MIR548H2, MIR3178, MIR3177, MIR3176, MTRNR2L4, MIR3677, MIR3180-5, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, LINC01569, NAGPA-AS1, CORO7-PAM16, MIR4718, MIR4717, MIR4516, MIR5587, GLIS2-AS1, LINC01570, LINC02177, LOC101927131, LMF1-AS1, LOC101929613, LITAFD, MIR6126, MIR6511B1, MIR6767, MIR6768, MIR8065, MIR6769A, LINC02861, LINC01195, LINC01177, LOC105371038, PERCC1, LOC105371046, LINC02124, LOC105371049, LINC02164, LINC02152, LOC105371083, HBA-LCR, LINC01290, LOC106660606, LOC106783500, LOC106799840, LOC106799915, LOC106804612, LOC106804613, LOC107522031, SNORA3C, 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
See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000150284
3.
GRCh37:
Chr16:96766-4297186
GRCh38:
Chr16:46766-4247185
ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, GFER, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, IGFALS, MEFV, MPG, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, NPRL3, AXIN1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, SYNGR3, IL32, SLC9A3R2, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, TPSD1, SRRM2, TPSG1, RAB26, DECR2, SNORA64, SNORD60, SOX8, AMDHD2, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, ZSCAN32, HCFC1R1, LUC7L, TBC1D24, CASKIN1, CRAMP1, RAB40C, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, LINC00235, TPSB2, HS3ST6, PDIA2, TRG-CCC2-2, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, THOC6, KREMEN2, SNRNP25, TMEM204, NAA60, TEDC2, ZNF205-AS1, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, METTL26, MCRIP2, SLX4, GNPTG, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, RNF151, PRR35, FBXL16, SSTR5-AS1, ZNF597, BICDL2, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, LINC00514, LINC00921, NHLRC4, C16orf91, JMJD8, PRSS41, PRR25, C1QTNF8, PTX4, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, LOC729652, SNHG9, CEMP1, MIR940, LOC100128770, SRRM2-AS1, LOC100134368, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100287175, MIR3178, MIR3177, MIR3176, MTRNR2L4, MIR3677, MIR3180-5, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, LINC01569, MIR4717, MIR4516, MIR5587, LMF1-AS1, LOC101929613, MIR6126, MIR6511B1, MIR6767, MIR6768, LINC02861, LOC105371038, PERCC1, LOC105371046, LINC02124, LOC105371049, HBA-LCR, LOC106660606, LOC106783500, LOC106799915, LOC106804612, LOC106804613, SNORA3C, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147509
4.
GRCh37:
Chr16:96766-11619372
GRCh38:
Chr16:46766-11525516
MIR4516, MIR5587, GLIS2-AS1, LINC01570, LINC02177, LOC101927131, LMF1-AS1, LOC101929613, LITAFD, MIR6126, MIR6511B1, MIR6767, MIR6768, MIR8065, MIR6769A, LINC02861, LINC01195, LINC01177, LOC105371038, PERCC1, LOC105371046, LINC02124, LOC105371049, LINC02164, LINC02152, LOC105371083, HBA-LCR, LINC01290, LOC106660606, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, SNORA3C, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112296180, LOC112296181, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, HBZ, DNASE1, DNASE1L2, E4F1, EMP2, GFER, HMOX2, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, IGFALS, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, AXIN1, SOCS1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, SNORA64, SNORD60, DEXI, C16orf72, UBN1, CDIP1, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1, RAB40C, PRM3, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, LINC00235, TPSB2, HS3ST6, PDIA2, TRG-CCC2-2, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, ZNF205-AS1, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, VASN, TSR3, RMI2, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, PRR35, FBXL16, SSTR5-AS1, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, LINC00514, LINC00921, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, LOC400499, SMIM22, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, LOC729652, SNHG9, CEMP1, TVP23A, MIR940, LOC100128770, SRRM2-AS1, LOC100130283, LOC100134368, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100287175, MIR548H2, MIR3178, MIR3177, MIR3176, MTRNR2L4, MIR3677, MIR3180-5, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, LINC01569, NAGPA-AS1, CORO7-PAM16, MIR4717
See casesPathogenic
(Feb 28, 2010)
no assertion criteria providedVCV000144298
5.
GRCh37:
Chr16:96766-3264623
GRCh38:
Chr16:46766-3214623
ABCA3, ARHGDIG, ATP6V0C, CCNF, CLCN7, ECI1, DNASE1L2, E4F1, GFER, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, IGFALS, MPG, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, PDPK1, PKD1, RPL3L, RPS2, CAPN15, SSTR5, ELOB, TPSAB1, TSC2, UBE2I, ZNF205, ZNF213, NPRL3, AXIN1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, SYNGR3, IL32, SLC9A3R2, RAB11FIP3, IFT140, TELO2, NUBP2, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, MAPK8IP3, TPSD1, SRRM2, TPSG1, RAB26, DECR2, SNORA64, SNORD60, SOX8, AMDHD2, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, HCFC1R1, LUC7L, TBC1D24, CASKIN1, CRAMP1, RAB40C, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, LINC00235, TPSB2, HS3ST6, PDIA2, TRG-CCC2-2, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, THOC6, KREMEN2, SNRNP25, TMEM204, TEDC2, ZNF205-AS1, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, METTL26, MCRIP2, GNPTG, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, RPUSD1, FLYWCH2, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, RNF151, PRR35, FBXL16, SSTR5-AS1, BICDL2, WDR90, EME2, MEIOB, PRSS33, NPW, BRICD5, PGP, LINC00514, NHLRC4, C16orf91, JMJD8, PRSS41, PRR25, C1QTNF8, PTX4, SNORA10, FLJ42627, CCDC154, SNORA78, MIR662, LOC729652, SNHG9, CEMP1, MIR940, LOC100128770, SRRM2-AS1, LOC100134368, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100287175, MIR3178, MIR3177, MIR3176, MIR3677, MIR3180-5, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, MIR4717, MIR4516, MIR5587, LMF1-AS1, LOC101929613, MIR6511B1, MIR6767, MIR6768, LOC105371038, PERCC1, LOC105371046, LINC02124, LOC105371049, HBA-LCR, LOC106660606, LOC106783500, LOC106799915, LOC106804612, LOC106804613, SNORA3C, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058597
6.
GRCh37:
Chr16:716662-15836961
GRCh38:
Chr16:666662-15743104
ABAT, ABCA3, ADCY9, ATP6V0C, TNFRSF17, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, GFER, GRIN2A, GSPT1, HAGH, HMOX2, IGFALS, MEFV, CIITA, MYH11, NUBP1, NDUFB10, NME3, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, SRL, SSTR5, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, SNN, PLA2G10, SOCS1, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, DNAJA3, SYNGR3, IL32, NPIPA1, SLC9A3R2, LITAF, MARF1, SEC14L5, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, TBL3, RNPS1, PRSS21, PDXDC1, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, NOMO1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, RSL1D1, SNORA64, SNORD60, DEXI, C16orf72, ZC3H7A, UBN1, CDIP1, SOX8, AMDHD2, PAM16, TXNDC11, NAGPA, BFAR, TNFRSF12A, MSRB1, GNG13, KCTD5, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, CPPED1, ALG1, NMRAL1, TBC1D24, MRTFB, CASKIN1, CRAMP1, PRM3, CHTF18, PRSS22, MLST8, MMP25, CIAO3, TPSB2, HS3ST6, UNKL, LINC00254, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, ZNF205-AS1, FAHD1, PRSS27, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, BMERB1, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, SNX29, RPUSD1, FLYWCH2, VASN, TSR3, RMI2, NTAN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, FBXL16, SSTR5-AS1, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, MPV17L, PRSS33, NPW, BRICD5, PGP, LINC00514, LINC00921, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, LOC400499, BCAR4, SMIM22, SNORA10, MIR193B, MIR484, NPIPA3, NPIPA2, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, LOC729652, NPIPB2, SHISA9, SNHG9, CEMP1, TVP23A, MIR940, MIR365A, LOC100128770, SRRM2-AS1, MIR193BHG, LOC100130283, MIR1225, TRP-AGG1-1, TRK-CTT4-1, TRT-CGT2-1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, TRR-CCG1-3, TRK-CTT5-1, TRP-CGG1-2, TRR-CCT5-1, TRP-TGG3-5, TRK-CTT2-5, TRP-AGG2-8, TRP-TGG3-3, TRP-TGG3-4, LOC100288162, NPIPA5, MIR1972-1, MIR548H2, MIR3180-1, MIR3179-1, MIR3178, MIR3177, MTRNR2L4, MIR3677, MIR3180-4, MIR3670-1, MIR3180-5, LOC100505915, SNHG19, ERVK13-1, MMP25-AS1, ZNF213-AS1, LINC01569, NAGPA-AS1, CORO7-PAM16, MIR4718, MIR4717, MIR4516, GLIS2-AS1, LINC01570, LINC02177, LOC101927131, LINC02185, LINC02186, LMF1-AS1, LOC101929613, LITAFD, MIR6126, MIR6506, MIR6511B1, MIR6767, MIR6768, MIR6770-1, MIR8065, MIR6511B2, MIR6511A1, MIR6769A, LINC02861, LINC01195, LINC01177, PERCC1, LOC105371046, LINC02124, LOC105371049, LINC02164, LINC02152, LOC105371083, LINC02130, LINC01290, LOC106660606, LOC106783500, LOC106799840, LOC106799915, LOC107522031, SNORA3C, 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
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155643
7.
GRCh37:
Chr16:2376841-3537106
GRCh38:
Chr16:2326840-3487106
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058619
8.
GRCh37:
Chr16:2544805-3296579
GRCh38:
Chr16:2494804-3246579
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059427
9.
GRCh37:
Chr16:2767953-4091021
GRCh38:
Chr16:2717952-4041020
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058620
10.
GRCh37:
Chr16:2836224-2963720
GRCh38:
Chr16:2786223-2913719
PRSS21, PRSS22, FLYWCH1, FLYWCH2, ZG16B, PRSS33, PRSS41, SNORA3CSee casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000059949
11.
GRCh37:
Chr16:2900735-7160698
GRCh38:
Chr16:2850734-7110697
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059428
12.
GRCh37:
Chr16:2716924-3055626
not providedUncertain significance
(Jan 19, 2018)
no assertion criteria providedVCV000688363
13.
GRCh37:
Chr16:2859583-3056563
PKMYT1, PRSS21, PRSS22, KREMEN2, FLYWCH1, FLYWCH2, ZG16B, PAQR4not providedUncertain significance
(May 29, 2018)
no assertion criteria providedVCV000687933
14.
GRCh37:
Chr16:2899096-3003863
PRSS22, FLYWCH1, FLYWCH2not providedUncertain significance
(Feb 6, 2018)
no assertion criteria providedVCV000687658
15.
GRCh37:
Chr16:2817166-3056563
not providedUncertain significance
(Jun 8, 2017)
no assertion criteria providedVCV000685548
16.
GRCh37:
Chr16:109978-4316797
Chromosome 16p13.3 duplication syndromePathogenic
(Nov 1, 2018)
criteria provided, single submitterVCV000625723
17.
GRCh37:
Chr16:88165-90274695
ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737, AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria providedVCV000602282
18.
GRCh37:
Chr16:88165-90163275
AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK, MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737
not providedPathogenic
(Oct 31, 2014)
no assertion criteria providedVCV000602281
19.
GRCh37:
Chr16:61451-90294632
MLKL, ZNF778, ACSF3, WDR90, EME2, NLRC3, NSMCE1, ZNF48, PDILT, CPNE2, ADGRG5, PRSS54, CES5A, ADGRG3, IL27, KCTD13, ASPHD1, MEIOB, MPV17L, PDZD9, CNEP1R1, ANKS4B, PRSS33, PYDC1, NOMO2, TERB1, CES4A, EXOC3L1, NPW, BRICD5, PGP, C16orf54, INO80E, NUDT7, ZNF843, NHLRC4, C16orf91, TMEM114, CLEC18C, SNAI3, PRSS53, JMJD8, FAM92B, C16orf96, ZKSCAN2, ATXN1L, PKD1L3, ACSM2B, CLEC18A, CTU2, PRSS41, TEPP, PRR25, SBK1, C16orf87, C16orf97, C16orf86, C16orf47, C1QTNF8, PTX4, PABPN1L, BCAR4, KNOP1, LOC400541, FENDRR, C16orf74, MIR138-2, MIR140, NOMO3, SMIM22, NPIPB4, NPIPB15, CTRB2, MIR328, SULT1A4, TRIM72, CLEC18B, SLX1A, BOLA2, MIR193B, CCNYL3, NPIPA3, NPIPA2, CCDC154, C16orf90, KIAA0895L, TP53TG3C, ZG16, BOLA2B, LOC654780, CLEC19A, EIF3CL, NPIPB6, TP53TG3D, TP53TG3B, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, SYCE1L, NPIPB5, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, LINC01082, C16orf95, CORO7-PAM16, CKLF-CMTM1, LOC101927817, LOC101928417, LOC101928737, AARS1, ABAT, ABCA3, ADCY7, ADCY9, AP1G1, AGRP, ALDOA, AMFR, AQP8, APRT, ABCC6, ARHGDIG, ZFHX3, ATP2A1, ATP6V0C, BBS2, TNFRSF17, GAS8-AS1, CA5A, CA7, CALB2, CBFA2T3, CBFB, CBLN1, CCNF, CD19, CDH1, CDH3, CDH5, CDH8, CDH11, CDH13, CDH15, CDH16, CDR2, CES1, CETP, CLCN7, CLN3, CNGB1, COX4I1, COX6A2, CREBBP, CRYM, CSNK2A2, CTF1, CTRB1, CTRL, CYBA, CYLD, ECI1, DHODH, NQO1, SEPTIN1, DNASE1, DNASE1L2, DYNC1LI2, DPEP1, E2F4, E4F1, EMP2, ERCC4, FANCA, FOXF1, FOXL1, FOXC2, FUS, GALNS, GAS8, GCSH, GFER, GLG1, GNAO1, GOT2, GP2, GRIN2A, GSPT1, GTF3C1, HAGH, HAS3, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, HP, HPR, HSBP1, HSD11B2, HSD17B2, HSF4, IRF8, IGFALS, IL4R, ITGAD, ITGAL, ITGAM, ITGAX, KARS1, KIFC3, KIF22, LCAT, MAF, MAZ, MC1R, CHST6, MEFV, CIITA, MMP2, MMP15, MPG, ABCC1, MT1A, MT1B, MT1E, MT1F, MT1G, MT1H, MT1M, MT1X, MT2A, MT3, MVD, MYH11, NUBP1, NDUFAB1, NDUFB10, NFATC3, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, CHMP1A, PDPK1, PHKB, PHKG2, PKD1, PLCG2, PLK1, PMM2, POLR2C, PPL, PPP4C, PRKCB, MAPK3, PRM1, PRM2, PRSS8, PSKH1, PSMB10, PSMD7, RBBP6, RBL2, RPL3L, RPL13, RPS2, RPS15A, RRAD, ACSM3, SALL1, SCNN1B, SCNN1G, SRL, CCL17, CCL22, CX3CL1, SIAH1, ST3GAL2, SLC5A2, SLC6A2, SLC9A5, SLC12A3, SLC12A4, SNTB2, CAPN15, SPG7, SPN, SSTR5, SULT1A2, STX4, SULT1A1, SULT1A3, TAT, TBX6, ELOB, TERF2, TFAP4, TGFB1I1, TK2, TNP2, TPSAB1, TSC2, TUFM, UBE2I, UMOD, UQCRC2, ZNF19, ZNF23, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, GAN, SLC7A5, SNN, AXIN1, PLA2G10, DOC2A, HIRIP3, CDK10, SOCS1, EIF3C, TRADD, MBTPS1, RGS11, CES2, NAE1, CACNA1H, BAIAP3, NOL3, TAF1C, RHBDL1, SLC7A6, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, USP10, ATP6V0D1, SYNGR3, IL32, BCL7C, NPIPA1, ADGRG1, TAOK2, SLC9A3R2, LITAF, BCAR1, VPS9D1, MARF1, N4BP1, NUP93, HERPUD1, SEC14L5, ZNF646, RAB11FIP3, CCP110, SETD1A, IFT140, KIAA0513, PIEZO1, DHX38, IST1, RNF40, TELO2, ATP2C2, HS3ST4, HS3ST2, MVP, NUBP2, ZNF263, TRAP1, CLEC3A, CHST4, MPHOSPH6, NUTF2, COQ7, MSLN, IGSF6, IRX5, STUB1, DNAJA2, BCKDK, KATNB1, ZNF267, EMC8, CACNG3, TUBB3, CD2BP2, CDIPT, CFDP1, MRPL28, ERN2, TBL3, CTCF, NFAT5, SRCAP, RNPS1, PRSS21, NUDT21, WWP2, PRDM7, CORO1A, DDX19B, ATXN2L, GABARAPL2, MON1B, SEPHS2, TCF25, CNOT1, PHLPP2, PDXDC1, SMG1, CLUAP1, GGA2, ZNF423, NPIPB3, MAPK8IP3, ZCCHC14, GSE1, ARL6IP1, XPO6, KIAA0556, CLEC16A, MGRN1, ATMIN, RPGRIP1L, ZNF629, COTL1, MLYCD, NOMO1, TPSD1, SF3B3, QPRT, CES3, SRRM2, ADAT1, CHST5, ARL2BP, CARHSP1, ORC6, EDC4, PLA2G15, TP53TG3, TPSG1, RAB26, COG4, TMEM186, PLEKHG4, SH2B1, TBC1D10B, ZNF500, DECR2, RSL1D1, LRRC29, SEZ6L2, NUPR1, LAT, CPNE7, VPS4A, IL17C, TOX3, TNRC6A, DEXI, NOB1, C16orf72, ZC3H7A, CCDC113, TMEM208, CFAP20, PYCARD, FHOD1, BRD7, ANKRD11, ZDHHC1, UBN1, MYLPF, EEF2K, OSGIN1, CDIP1, SOX8, IL21R, PARD6A, AMDHD2, PAM16, TXNDC11, PLLP, METTL9, NAGPA, CKLF, BFAR, AHSP, TNFRSF12A, ZNF771, NIP7, LCMT1, GDE1, CIAO2B, GINS2, TPPP3, TRAPPC2L, GPRC5B, POLR3K, MSRB1, WWOX, SYT17, GNG13, BCO1, TERF2IP, KCTD5, PRMT7, NECAB2, FBXL19, RRN3, RBFOX1, KLHDC4, HYDIN, NDE1, DEF8, DUS2, CHTF8, ZSCAN32, LPCAT2, TXNL4B, BANP, HCFC1R1, ACSM5, HEATR3, PDPR, ARHGAP17, RFWD3, SLC38A7, OGFOD1, LRRC36, DDX19A, CPPED1, FBXL8, SMPD3, ZNF821, DNAH3, THUMPD1, ZDHHC7, LUC7L, VAC14, DOK4, POLR3E, VPS35, CMTR2, DDX28, TSNAXIP1, CENPN, APOBR, ALG1, UBFD1, CMC2, COQ9, CIAPIN1, VPS35L, TMEM159, LYRM1, THAP11, JPH3, NMRAL1, TBC1D24, USP31, MRTFB, CASKIN1, PDP2, ZNF319, CRAMP1, RANBP10, VAT1L, MEAK7, RAB40C, WFDC1, PRM3, PGAP6, CHTF18, CHP2, PRSS22, NOD2, XYLT1, PDF, DPEP2, DPEP3, MLST8, TENT4B, RHBDF1, FBRS, MMP25, AKTIP, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, C16orf58, MTHFSD, GINS3, LMF1, NDRG4, ACD, ZNF747, ANTKMT, MRPS34, PRR14, VKORC1, METRN, DBNDD1, SLX1B, FTO, DCTPP1, METTL22, FA2H, GDPD3, IRX6, IRX3, THOC6, KREMEN2, PAGR1, RIPOR1, TMEM231, CORO7, TANGO6, SNRNP25, ROGDI, USB1, TMEM204, ZNF768, WDR59, PALB2, ZNF668, ELMO3, KLHL36, FBXO31, ARMC5, SHCBP1, KDM8, TMC5, RABEP2, NAA60, TMC7, SETD6, ESRP2, PSME3IP1, ATF7IP2, CENPT, TEDC2, CHD9, C16orf70, HSD3B7, CYB5B, CMIP, ITFG1, GFOD2, CDT1, MAP1LC3B, NETO2, FAHD1, PMFBP1, DYNLRB2, HSDL1, CRISPLD2, YPEL3, TLCD3B, LONP2, PRSS27, SPNS1, FAM234A, ENKD1, SLC7A6OS, KAT8, NLRC5, WDR24, DRC7, TRAF7, FLYWCH1, HAGHL, CAPNS2, NUDT16L1, METTL26, MCRIP2, COG8, SLX4, SPIRE2, DCTN5, MT4, GNPTG, ZNF469, GLYR1, GLIS2, GPT2, B3GNT9, ZSCAN10, NFATC2IP, UTP4, ZNRF1, ABCC11, NKD1, CNTNAP4, BMERB1, RHOT2, RSPRY1, CCDC189, ZNF598, JPT2, SPSB3, TIGD7, MYLK3, MARVELD3, COG7, SNX29, MTSS2, ZNF764, CENPBD1, ZNF276, CCDC102A, KCNG4, ORAI3, SDR42E1, ABCC12, PRRT2, ERI2, STX1B, SGF29, RPUSD1, CMTM1, PKD1L2, FLYWCH2, VASN, ZNF689, SLC5A11, TSR3, RNF166, RMI2, ACSM1, WFIKKN1, EXOSC6, C16orf46, NTAN1, FOPNL, DNAAF1, ACSM2A, DCUN1D3, NRN1L, CMTM3, C16orf78, SPATA2L, SPATA33, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, ZC3H18, GPR139, CDYL2, ANKS3, UBALD1, SEPTIN12, ZNF720, TMEM219, EARS2, SNX20, TMEM170A, SLC38A8, VWA3A, OTOA, ZFP90, CARMIL2, KCTD19, CMTM4, CMTM2, BEAN1, TEKT5, RNF151, PRR35, FBXL16, C16orf92, GSG1L, SLC22A31, IL34, ZNF597, BICDL2, TMED6, ZNF785, ZNF688, PRSS36, C16orf89, C16orf71, ZFPM1, ADAD2, ITPRIPL2, C16orf82, ZFP1, ADAMTS18, EEF2KMT, LDHD, FCSK
not providedPathogenic
(Jan 1, 2013)
no assertion criteria providedVCV000602279
20.
GRCh37:
Chr16:2651354-4460114
not providedPathogenic
(Sep 7, 2017)
no assertion criteria providedVCV000564258
21.
GRCh37:
Chr16:1505184-4415346
not providedPathogenic
(Jan 3, 2018)
no assertion criteria providedVCV000564256
22.
GRCh37:
Chr16:85880-11209288
ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, HBZ, DNASE1, DNASE1L2, E4F1, EMP2, GFER, HMOX2, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, IGFALS, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TFAP4, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, AXIN1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, CLEC16A, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, DEXI, C16orf72, UBN1, CDIP1, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1, RAB40C, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, ATF7IP2, TEDC2, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, VASN, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, PRR35, FBXL16, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, SMIM22, CCDC154, C16orf90, SNHG9, CEMP1, TVP23A, MIR1225, MTRNR2L4, CORO7-PAM16
not providedPathogenic
(Mar 29, 2018)
no assertion criteria providedVCV000564254
23.
GRCh37:
Chr16:85880-3216551
not providedPathogenic
(Aug 3, 2017)
no assertion criteria providedVCV000564253
24.
GRCh37:
Chr16:85880-9883129
ABAT, ABCA3, ADCY9, ARHGDIG, ATP6V0C, CCNF, CLCN7, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, GFER, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, IGFALS, MEFV, MPG, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PDPK1, PKD1, PMM2, PPL, RPL3L, RPS2, SRL, CAPN15, SSTR5, ELOB, TFAP4, TPSAB1, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, USP7, NPRL3, AXIN1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, SLC9A3R2, SEC14L5, RAB11FIP3, IFT140, TELO2, NUBP2, ZNF263, TRAP1, MSLN, STUB1, MRPL28, TBL3, RNPS1, PRSS21, CLUAP1, MAPK8IP3, MGRN1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, C16orf72, UBN1, CDIP1, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, MSRB1, GNG13, KCTD5, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, TBC1D24, CASKIN1, CRAMP1, RAB40C, PGAP6, CHTF18, PRSS22, MLST8, RHBDF1, MMP25, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, NAA60, TEDC2, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, VASN, TSR3, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, RNF151, PRR35, FBXL16, ZNF597, BICDL2, C16orf89, C16orf71, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, SMIM22, CCDC154, C16orf90, SNHG9, CEMP1, MIR1225, MTRNR2L4, CORO7-PAM16
See casesPathogenic
(Jul 7, 2014)
no assertion criteria providedVCV000443477
25.
GRCh37:
Chr16:85880-22442007
ABAT, ABCA3, ADCY9, ABCC6, ARHGDIG, ATP6V0C, TNFRSF17, CCNF, CDR2, CLCN7, CREBBP, CRYM, ECI1, DNASE1, DNASE1L2, E4F1, EMP2, ERCC4, GFER, GP2, GRIN2A, GSPT1, HAGH, HBA1, HBA2, HBM, HBQ1, HBZ, HMOX2, IGFALS, MEFV, CIITA, MPG, ABCC1, MYH11, NUBP1, NDUFB10, NME3, NME4, NTHL1, NTN3, OR1F1, OR2C1, PARN, PDPK1, PKD1, PMM2, PPL, PRM1, PRM2, RPL3L, RPS2, RPS15A, ACSM3, SRL, CAPN15, SSTR5, ELOB, TFAP4, TNP2, TPSAB1, TSC2, UBE2I, UMOD, UQCRC2, ZNF75A, ZNF174, ZNF200, ZNF205, ZNF213, ZP2, USP7, NPRL3, SNN, AXIN1, PLA2G10, SOCS1, RGS11, CACNA1H, BAIAP3, RHBDL1, CLDN6, CLDN9, PKMYT1, PIGQ, DNAJA3, SYNGR3, IL32, NPIPA1, SLC9A3R2, LITAF, MARF1, SEC14L5, RAB11FIP3, CCP110, IFT140, TELO2, NUBP2, ZNF263, TRAP1, COQ7, MSLN, IGSF6, STUB1, MRPL28, TBL3, RNPS1, PRSS21, PDXDC1, SMG1, CLUAP1, NPIPB3, MAPK8IP3, ARL6IP1, CLEC16A, MGRN1, NOMO1, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, ZNF500, DECR2, RSL1D1, DEXI, C16orf72, ZC3H7A, UBN1, EEF2K, CDIP1, SOX8, AMDHD2, PAM16, TXNDC11, METTL9, NAGPA, BFAR, TNFRSF12A, GDE1, GPRC5B, POLR3K, MSRB1, SYT17, GNG13, KCTD5, RRN3, RBFOX1, NDE1, ZSCAN32, HCFC1R1, ACSM5, CPPED1, DNAH3, THUMPD1, LUC7L, POLR3E, ALG1, VPS35L, TMEM159, LYRM1, NMRAL1, TBC1D24, MRTFB, CASKIN1, CRAMP1, RAB40C, PRM3, PGAP6, CHTF18, PRSS22, XYLT1, MLST8, RHBDF1, MMP25, CIAO3, TPSB2, HS3ST6, PDIA2, UNKL, LMF1, ANTKMT, MRPS34, METRN, METTL22, THOC6, KREMEN2, CORO7, SNRNP25, ROGDI, TMEM204, TMC5, NAA60, TMC7, ATF7IP2, TEDC2, FAHD1, PRSS27, FAM234A, WDR24, TRAF7, FLYWCH1, HAGHL, NUDT16L1, METTL26, MCRIP2, SLX4, GNPTG, GLYR1, GLIS2, ZSCAN10, BMERB1, RHOT2, ZNF598, JPT2, SPSB3, TIGD7, SNX29, ERI2, RPUSD1, FLYWCH2, VASN, TSR3, RMI2, ACSM1, WFIKKN1, NTAN1, FOPNL, ACSM2A, DCUN1D3, NOXO1, CCDC78, IQCK, ZG16B, PAQR4, GPR139, ANKS3, UBALD1, SEPTIN12, VWA3A, OTOA, TEKT5, RNF151, PRR35, FBXL16, ZNF597, BICDL2, C16orf89, C16orf71, ITPRIPL2, EEF2KMT, WDR90, EME2, NLRC3, PDILT, MEIOB, MPV17L, PDZD9, ANKS4B, PRSS33, NOMO2, NPW, BRICD5, PGP, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, ACSM2B, PRSS41, PRR25, C1QTNF8, PTX4, BCAR4, KNOP1, NOMO3, SMIM22, NPIPB4, MIR193B, NPIPA3, NPIPA2, CCDC154, C16orf90, CLEC19A, SHISA9, MOSMO, SNHG9, CEMP1, TVP23A, MIR365A, MIR1225, SDR42E2, NPIPA5, MTRNR2L4, CORO7-PAM16
See casesPathogenic
(Sep 12, 2014)
no assertion criteria providedVCV000443183
26.
GRCh37:
Chr16:85881-90155062