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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, 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, WFIKKN1, NOXO1, CCDC78, ZG16B, PAQR4, ANKS3, UBALD1, SEPTIN12, TEKT5, RNF151, PRR35, FBXL16, SSTR5-AS1, ZNF597, BICDL2, C16orf89, DNAAF8, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, GREP1, LINC00921, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, SMIM22, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, TEDC2-AS1, 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, USP7-AS1, HBA-LCR, LINC01290, MIR3677HG, LOC106783500, LOC106799915, LOC106804612, LOC106804613, LOC107522031, SNORA3C, LOC110121335, LOC110596863, LOC110596865, LOC111188163, LOC111776217, LOC112296179, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, LOC112486224, LOC112486225, LOC112486226, LOC113939950, LOC113939951, LOC115253417, CEROX1, LOC116268480, LOC116276445, LOC116276446, LOC116276447
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058594
2.
GRCh37:
Chr16:93732-13420663
GRCh38:
Chr16:43732-13326806
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, DNAAF8, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, PRSS33, NPW, BRICD5, PGP, GREP1, LINC00921, NHLRC4, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, LOC400499, BCAR4, SMIM22, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, TEDC2-AS1, 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, USP7-AS1, LOC105371083, RSL1D1-DT, HBA-LCR, LINC01290, MIR3677HG, 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, CEROX1, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448, 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
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, GREP1, LINC00921, NHLRC4, C16orf91, JMJD8, PRSS41, PRR25, C1QTNF8, PTX4, SNORA10, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, TEDC2-AS1, 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, MIR3677HG, LOC106783500, LOC106799915, LOC106804612, LOC106804613, SNORA3C, LOC110596863, LOC110596865, LOC111188163, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC113939950, LOC115253417, CEROX1, LOC116268480
See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000147509
4.
GRCh37:
Chr16:96766-11619372
GRCh38:
Chr16:46766-11525516
WFIKKN1, NOXO1, ROGDI, TMEM204, C16orf89, DNAAF8, PRSS22, MLST8, BRICD5, MRPS34, NHLRC4, C16orf91, TEDC2-AS1, SNHG9, CEMP1, TRP-AGG2-8, TRP-TGG3-3, TBC1D24, CASKIN1, TRP-CGG1-2, TRR-CCT5-1, CDIP1, PDPK1, PKD1, SLX4, ERVK13-1, MMP25-AS1, MSRB1, GNG13, CCDC78, ZG16B, FAM234A, WDR24, MMP25, CIAO3, MIR6126, MIR6511B1, HS3ST6, MRPL28, TBL3, LINC02152, USP7-AS1, RHBDF1, RNPS1, PRSS21, ZNF500, SLC9A3R2, SEC14L5, CLUAP1, MAPK8IP3, CRAMP1, RAB40C, CLEC16A, MGRN1, PDIA2, TRG-CCC2-2, C16orf72, UBN1, NAA60, LINC00235, TPSB2, NPRL3, AXIN1, MCRIP2, SOCS1, LOC111188163, LOC111776217, LOC116268480, LOC116276445, LOC115253417, CEROX1, LOC112296179, LOC112296180, LOC112296181, LOC112340386, LOC112340387, LOC112340388, LOC112441449, LOC112441450, VASN, LOC112486224, LOC112486225, ZNF213, USP7, SSTR5-AS1, ZNF597, RGS11, CACNA1H, PGP, LOC116276446, LOC116276447, BAIAP3, RHBDL1, HAGHL, NUDT16L1, METTL26, SNORA10, FLJ42627, CCDC154, C16orf90, KCTD5, MIR8065, MIR6769A, DNAJA3, NTN3, OR1F1, HBZ, HMOX2, TSR3, RMI2, TRR-CCG1-3, TRK-CTT5-1, SYNGR3, IL32, BICDL2, CAPN15, SSTR5, LINC02861, LINC01195, LINC01177, LOC105371038, PERCC1, LOC105371046, MIR6767, MIR6768, LINC01290, MIR3677HG, TRP-TGG3-4, LOC100287175, MIR548H2, MIR3178, TNP2, MIR3177, MIR3176, LOC106783500, LOC106799915, LOC105371083, HBA-LCR, MIR5587, GLIS2-AS1, TRK-CTT3-1, TRP-AGG2-7, TRR-CCT3-1, GFER, ELOB, RPS2, SRL, PRM2, RPL3L, TVP23A, CORO7-PAM16, TRP-TGG3-5, TRK-CTT2-5, GREP1, LINC00921, MIR4717, MIR4516, MIR3180-5, SNHG19, LINC01570, LINC02177, LOC106804612, LOC106804613, LOC107522031, SNORA3C, ABAT, ABCA3, MTRNR2L4, MIR3677, ZNF213-AS1, LINC01569, NAGPA-AS1, ADCY9, ARHGDIG, JMJD8, C16orf96, LOC101927131, LMF1-AS1, PRSS41, PRR25, PRM1, C1QTNF8, PTX4, LINC02124, LOC400499, SMIM22, RAB11FIP3, IFT140, MIR940, LOC100128770, TELO2, NUBP2, LOC110596863, LOC110596865, SRRM2-AS1, LOC100130283, TRAP1, MSLN, LOC100134368, MIR1225, LOC101929613, LITAFD, DECR2, SNORA64, PAQR4, ANKS3, UBALD1, SEPTIN12, PRM3, TEKT5, RNF151, SNORA78, MIR662, PRR35, FBXL16, LOC110121335, IGFALS, EMP2, LOC112486226, LOC113939950, LOC113939951, CLDN9, PKMYT1, EEF2KMT, WDR90, TRP-AGG1-1, TRK-CTT4-1, TMEM114, EME2, NLRC3, PMM2, PPL, MEIOB, PRSS33, TPSAB1, NPW, PRSS27, TRAF7, FLYWCH1, UNKL, LINC00254, LOC105371049, LINC02164, ZSCAN10, RHOT2, GLYR1, GLIS2, ZNF598, JPT2, SPSB3, TIGD7, RPUSD1, FLYWCH2, ATP6V0C, CCNF, THOC6, KREMEN2, OR2C1, CORO7, SNRNP25, METRN, METTL22, CREBBP, ECI1, DNASE1, DNASE1L2, E4F1, PIGQ, GRIN2A, HAGH, HBA1, HBA2, HBM, HBQ1, STUB1, MEFV, CIITA, MPG, NUBP1, NDUFB10, NME3, SNORD60, DEXI, TSC2, UBE2I, ZNF75A, ZNF174, ZNF200, ZNF205, TPSD1, SRRM2, CARHSP1, TPSG1, RAB26, TMEM186, PGAP6, CHTF18, SOX8, AMDHD2, PAM16, NAGPA, TNFRSF12A, POLR3K, LMF1, ANTKMT, RBFOX1, ZSCAN32, HCFC1R1, LUC7L, ALG1, NMRAL1, ZNF205-AS1, FAHD1, GNPTG, NME4, NTHL1, ATF7IP2, TEDC2, TFAP4, CLCN7, CLDN6, ZNF263
See casesPathogenic
(Feb 28, 2010)
no assertion criteria providedVCV000144298
5.
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, DNAAF8, EEF2KMT, WDR90, EME2, NLRC3, MEIOB, MPV17L, PRSS33, NPW, BRICD5, PGP, GREP1, LINC00921, C16orf91, TMEM114, JMJD8, C16orf96, PRSS41, PRR25, C1QTNF8, PTX4, LOC400499, BCAR4, SMIM22, SNORA10, MIR193B, MIR484, NPIPA3, NPIPA2, FLJ42627, CCDC154, C16orf90, SNORA78, MIR662, TEDC2-AS1, 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, USP7-AS1, LOC105371083, RSL1D1-DT, LINC02130, LINC01290, MIR3677HG, 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, CEROX1, LOC116268480, LOC116276445, LOC116276446, LOC116276447, LOC116276448
See casesPathogenic
(Jul 18, 2014)
no assertion criteria providedVCV000155643
6.
GRCh37:
Chr16:2767953-4091021
GRCh38:
Chr16:2717952-4041020
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058620
7.
GRCh37:
Chr16:2900735-7160698
GRCh38:
Chr16:2850734-7110697
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059428
8.
GRCh37:
Chr16:3353551-4015375
GRCh38:
Chr16:3303551-3965374
See casesLikely pathogenic
(Sep 4, 2012)
no assertion criteria providedVCV000149298
9.
GRCh37:
Chr16:3543167-4043346
GRCh38:
Chr16:3493167-3993345
ADCY9, CREBBP, DNASE1, TRAP1, CLUAP1, SLX4, NLRC3, C16orf90, LINC02861See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058621
10.
GRCh37:
Chr16:3565534-3799386
GRCh38:
Chr16:3515534-3749385
CREBBP, DNASE1, TRAP1, CLUAP1, SLX4, NLRC3See casesUncertain significance
(Apr 4, 2013)
no assertion criteria providedVCV000152247
11.
GRCh37:
Chr16:3610565-4316797
GRCh38:
Chr16:3560564-4266796
ADCY9, CREBBP, DNASE1, SRL, TFAP4, TRAP1, SLX4, NLRC3, LINC01569, LINC02861See casesPathogenic
(Nov 11, 2011)
no assertion criteria providedVCV000148879
12.
GRCh37:
Chr16:3657088-3927321
GRCh38:
Chr16:3607087-3877320
CREBBP, DNASE1, TRAP1, SLX4See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059429
13.
GRCh37:
Chr16:3715836-3777121
GRCh38:
Chr16:3665835-3727120
CREBBP, TRAP1See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059430
14.
GRCh37:
Chr16:3716024-3809066
GRCh38:
Chr16:3666023-3759065
CREBBP, TRAP1See casesPathogenic
(Sep 21, 2012)
no assertion criteria providedVCV000154933
15.
GRCh37:
Chr16:3716036-3817969
GRCh38:
Chr16:3666035-3767968
CREBBP, TRAP1See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148040
16.
GRCh37:
Chr16:3716036-3788580
GRCh38:
Chr16:3666035-3738579
CREBBP, TRAP1See casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000148021
17.
GRCh37:
Chr16:3730456-3791328
GRCh38:
Chr16:3680455-3741327
CREBBP, TRAP1See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000058622
18.
GRCh37:
Chr16:3750607-3860718
GRCh38:
Chr16:3700606-3810717
CREBBP, TRAP1See casesPathogenic
(Mar 10, 2014)
no assertion criteria providedVCV000155672
19.
GRCh37:
Chr16:3760450-4694952
GRCh38:
Chr16:3710449-4644951
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057281
20.
GRCh37:
Chr16:3775054-3930122
GRCh38:
Chr16:3725053-3880121
CREBBPRubinstein-Taybi syndrome 1Pathogenic
(Nov 4, 2015)
criteria provided, single submitterVCV000375635
21.
GRCh37:
Chr16:3776703-4694962
GRCh38:
Chr16:3726702-4644961
See casesPathogenic
(Sep 30, 2010)
no assertion criteria providedVCV000154437
22.
GRCh37:
Chr16:3776715-3809010
GRCh38:
Chr16:3726714-3759009
CREBBPSee casesPathogenic
(Dec 22, 2010)
no assertion criteria providedVCV000145541
23.
GRCh37:
Chr16:3777472-3777787
GRCh38:
Chr16:3727471-3727786
CREBBPRubinstein-Taybi syndrome 1Likely pathogenic
(Sep 18, 2017)
no assertion criteria providedVCV000522462
24.
GRCh37:
Chr16:3777693-3777694
GRCh38:
Chr16:3727692-3727693
CREBBPnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001268812
25.
GRCh37:
Chr16:3777697
GRCh38:
Chr16:3727696
CREBBPnot providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001230148
26.
GRCh37:
Chr16:3777699-4852592
GRCh38:
Chr16:3727698-4802591
Rubinstein-Taybi syndromePathogenic
(Aug 25, 2018)
criteria provided, single submitterVCV000657383
27.
GRCh37:
Chr16:3777737
GRCh38:
Chr16:3727736
CREBBPK2437N, K2399NRubinstein-Taybi syndrome 1Uncertain significance
(May 3, 2018)
no assertion criteria providedVCV000592092
28.
GRCh37:
Chr16:3777746
GRCh38:
Chr16:3727745
CREBBPRubinstein-Taybi syndrome, History of neurodevelopmental disorder, not specified
Benign/Likely benign
(Oct 26, 2019)
criteria provided, multiple submitters, no conflictsVCV000166960
29.
GRCh37:
Chr16:3777755
GRCh38:
Chr16:3727754
CREBBPnot specifiedLikely benign
(Feb 8, 2013)
criteria provided, single submitterVCV000158401
30.
GRCh37:
Chr16:3777758
GRCh38:
Chr16:3727757
CREBBPnot providedLikely benign
(Jun 14, 2018)
criteria provided, single submitterVCV000749933
31.
GRCh37:
Chr16:3777766
GRCh38:
Chr16:3727765
CREBBPG2390R, G2428Rnot providedUncertain significanceno assertion criteria providedVCV001210051
32.
GRCh37:
Chr16:3777776
GRCh38:
Chr16:3727775
CREBBPnot providedLikely benign
(Sep 22, 2020)
criteria provided, single submitterVCV001205034
33.
GRCh37:
Chr16:3777797
GRCh38:
Chr16:3727796
CREBBPMenke-Hennekam syndrome 1Uncertain significance
(Dec 13, 2019)
criteria provided, single submitterVCV001030789
34.
GRCh37:
Chr16:3777803
GRCh38:
Chr16:3727802
CREBBPRubinstein-Taybi syndrome 1Likely benign
(Feb 4, 2017)
criteria provided, single submitterVCV000458205
35.
GRCh37:
Chr16:3777812
GRCh38:
Chr16:3727811
CREBBPnot provided, Rubinstein-Taybi syndromeLikely benign
(Apr 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000705723
36.
GRCh37:
Chr16:3777836
GRCh38:
Chr16:3727835
CREBBPHistory of neurodevelopmental disorder, not specified, Rubinstein-Taybi syndrome
Benign
(Nov 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000095067
37.
GRCh37:
Chr16:3777838
GRCh38:
Chr16:3727837
CREBBPE2404K, E2366KHirschsprung disease 1Uncertain significance
(Apr 1, 2015)
no assertion criteria providedVCV000190267
38.
GRCh37:
Chr16:3777854
GRCh38:
Chr16:3727853
CREBBPnot providedLikely benign
(Apr 17, 2018)
criteria provided, single submitterVCV000778803
39.
GRCh37:
Chr16:3777864
GRCh38:
Chr16:3727863
CREBBPI2395T, I2357TRubinstein-Taybi syndrome 1Uncertain significance
(Feb 16, 2019)
criteria provided, single submitterVCV001030788
40.
GRCh37:
Chr16:3777870
GRCh38:
Chr16:3727869
CREBBPS2393T, S2355TRubinstein-Taybi syndromeUncertain significance
(Nov 26, 2019)
criteria provided, single submitterVCV000861595
41.
GRCh37:
Chr16:3777886
GRCh38:
Chr16:3727885
CREBBPA2388T, A2350TRubinstein-Taybi syndrome 1Uncertain significance
(Aug 7, 2018)
criteria provided, single submitterVCV000587495
42.
GRCh37:
Chr16:3777893
GRCh38:
Chr16:3727892
CREBBPnot providedLikely benign
(Jul 2, 2018)
criteria provided, single submitterVCV000746434
43.
GRCh37:
Chr16:3777923
GRCh38:
Chr16:3727922
CREBBPnot providedUncertain significance
(Jun 1, 2017)
criteria provided, single submitterVCV000444357
44.
GRCh37:
Chr16:3777930
GRCh38:
Chr16:3727929
CREBBPP2335L, P2373LMenke-Hennekam syndrome 1Uncertain significance
(Mar 6, 2020)
criteria provided, single submitterVCV001030787
45.
GRCh37:
Chr16:3777950
GRCh38:
Chr16:3727949
CREBBPnot specifiedBenign
(Feb 8, 2013)
criteria provided, single submitterVCV000158400
46.
GRCh37:
Chr16:3777959
GRCh38:
Chr16:3727958
CREBBPnot providedBenign
(Dec 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000715429
47.
GRCh37:
Chr16:3777970-3777990
GRCh38:
Chr16:3727969-3727989
CREBBPRubinstein-Taybi syndromeUncertain significance
(Jul 6, 2018)
criteria provided, single submitterVCV000582844
48.
GRCh37:
Chr16:3777985
GRCh38:
Chr16:3727984
CREBBPQ2355*, Q2317*not providedUncertain significance
(Apr 13, 2018)
criteria provided, single submitterVCV000523877
49.
GRCh37:
Chr16:3778008
GRCh38:
Chr16:3728007
CREBBPA2347V, A2309Vnot specifiedLikely benign
(Feb 8, 2013)
criteria provided, single submitterVCV000158399
50.
GRCh37:
Chr16:3778009
GRCh38:
Chr16:3728008
CREBBPA2309T, A2347Tnot providedUncertain significance
(Mar 1, 2021)
criteria provided, single submitterVCV001176640
51.
GRCh37:
Chr16:3778037
GRCh38:
Chr16:3728036
CREBBPnot providedLikely benign
(Jun 8, 2018)
criteria provided, single submitterVCV000789543
52.
GRCh37:
Chr16:3778046
GRCh38:
Chr16:3728045
CREBBPQ2296H, Q2334HIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975521
53.
GRCh37:
Chr16:3778060
GRCh38:
Chr16:3728059
CREBBPL2330F, L2292Fnot providedLikely pathogenic
(Feb 15, 2017)
criteria provided, single submitterVCV000423615
54.
GRCh37:
Chr16:3778092
GRCh38:
Chr16:3728091
CREBBPH2319L, H2281Lnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000133938
55.
GRCh37:
Chr16:3778103
GRCh38:
Chr16:3728102
CREBBPnot providedLikely benign
(Jun 26, 2018)
criteria provided, single submitterVCV000749683
56.
GRCh37:
Chr16:3778123
GRCh38:
Chr16:3728122
CREBBPG2271S, G2309Snot providedUncertain significance
(Apr 1, 2021)
criteria provided, single submitterVCV001176641
57.
GRCh37:
Chr16:3778167
GRCh38:
Chr16:3728166
CREBBPR2294Q, R2256Qnot providedUncertain significance
(Aug 11, 2018)
criteria provided, single submitterVCV000418149
58.
GRCh37:
Chr16:3778196
GRCh38:
Chr16:3728195
CREBBPnot providedLikely benign
(Aug 28, 2020)
criteria provided, single submitterVCV001208838
59.
GRCh37:
Chr16:3778199
GRCh38:
Chr16:3728198
CREBBPnot specified, Rubinstein-Taybi syndrome, History of neurodevelopmental disorder
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000498863
60.
GRCh37:
Chr16:3778209
GRCh38:
Chr16:3728208
CREBBPG2242E, G2280ERubinstein-Taybi syndrome 1Uncertain significance
(May 12, 2020)
criteria provided, single submitterVCV001098614
61.
GRCh37:
Chr16:3778214
GRCh38:
Chr16:3728213
CREBBPnot providedLikely benign
(Oct 1, 2018)
criteria provided, single submitterVCV000752851
62.
GRCh37:
Chr16:3778223
GRCh38:
Chr16:3728222
CREBBPnot providedLikely benign
(Jul 4, 2018)
criteria provided, single submitterVCV000747155
63.
GRCh37:
Chr16:3778228
GRCh38:
Chr16:3728227
CREBBPM2274V, M2236VHistory of neurodevelopmental disorderUncertain significance
(May 31, 2017)
criteria provided, single submitterVCV000589227
64.
GRCh37:
Chr16:3778253
GRCh38:
Chr16:3728252
CREBBPnot providedLikely benign
(Apr 10, 2018)
criteria provided, single submitterVCV000739510
65.
GRCh37:
Chr16:3778284
GRCh38:
Chr16:3728283
CREBBPP2217L, P2255LRubinstein-Taybi syndromeUncertain significance
(Sep 25, 2020)
criteria provided, single submitterVCV001013665
66.
GRCh37:
Chr16:3778302-3778303
GRCh38:
Chr16:3728301-3728302
CREBBPnot providedLikely benign
(Jun 9, 2020)
criteria provided, single submitterVCV001190540
67.
GRCh37:
Chr16:3778302
GRCh38:
Chr16:3728301
CREBBPR2249H, R2211Hnot providedUncertain significance
(May 27, 2014)
criteria provided, single submitterVCV000196696
68.
GRCh37:
Chr16:3778325
GRCh38:
Chr16:3728324
CREBBPnot providedLikely benign
(Jul 26, 2017)
criteria provided, single submitterVCV000706587
69.
GRCh37:
Chr16:3778337
GRCh38:
Chr16:3728336
CREBBPnot specified, Rubinstein-Taybi syndrome, History of neurodevelopmental disorder
Benign
(Feb 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000095066
70.
GRCh37:
Chr16:3778348
GRCh38:
Chr16:3728347
CREBBPP2234S, P2196Snot providedUncertain significance
(Aug 1, 2018)
criteria provided, single submitterVCV000624075
71.
GRCh37:
Chr16:3778363
GRCh38:
Chr16:3728362
CREBBPG2229S, G2191SHistory of neurodevelopmental disorder, not provided, Rubinstein-Taybi syndrome,
not specified
Benign
(Nov 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000095065
72.
GRCh37:
Chr16:3778364
GRCh38:
Chr16:3728363
CREBBPnot provided, History of neurodevelopmental disorderBenign/Likely benign
(Apr 13, 2020)
criteria provided, multiple submitters, no conflictsVCV000588642
73.
GRCh37:
Chr16:3778370
GRCh38:
Chr16:3728369
CREBBPnot providedUncertain significance
(Oct 2, 2015)
criteria provided, single submitterVCV000283516
74.
GRCh37:
Chr16:3778371-3778382
GRCh38:
Chr16:3728370-3728381
CREBBPHistory of neurodevelopmental disorder, not providedConflicting interpretations of pathogenicity
(Jun 11, 2020)
criteria provided, conflicting interpretationsVCV000281679
75.
GRCh37:
Chr16:3778387
GRCh38:
Chr16:3728386
CREBBPM2221L, M2183LRubinstein-Taybi syndrome, not providedConflicting interpretations of pathogenicity
(Jul 15, 2020)
criteria provided, conflicting interpretationsVCV000499235
76.
GRCh37:
Chr16:3778390
GRCh38:
Chr16:3728389
CREBBPG2220S, G2182Snot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000133940
77.
GRCh37:
Chr16:3778392
GRCh38:
Chr16:3728391
CREBBPA2181V, A2219Vnot providedBenign
(Sep 29, 2020)
criteria provided, single submitterVCV001261791
78.
GRCh37:
Chr16:3778407-3778415
GRCh38:
Chr16:3728406-3728414
CREBBPnot specifiedLikely benign
(Jul 27, 2016)
criteria provided, single submitterVCV000421869
79.
GRCh37:
Chr16:3778413-3778424
GRCh38:
Chr16:3728412-3728423
CREBBPIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975522
80.
GRCh37:
Chr16:3778419-3778427
GRCh38:
Chr16:3728418-3728426
CREBBPnot specifiedBenign
(Dec 18, 2013)
criteria provided, single submitterVCV000166961
81.
GRCh37:
Chr16:3778424
GRCh38:
Chr16:3728423
CREBBPQ2208H, Q2170HRubinstein-Taybi syndrome, History of neurodevelopmental disorder, not provided,
not specified
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000158398
82.
GRCh37:
Chr16:3778424
GRCh38:
Chr16:3728423
CREBBPRubinstein-Taybi syndrome, not provided, History of neurodevelopmental disorder,
not specified
Benign
(Dec 7, 2020)
criteria provided, multiple submitters, no conflictsVCV000095064
83.
GRCh37:
Chr16:3778425-3778436
GRCh38:
Chr16:3728424-3728435
CREBBPnot provided, Rubinstein-Taybi syndrome, not specified
Benign/Likely benign
(Apr 13, 2021)
criteria provided, multiple submitters, no conflictsVCV000281527
84.
GRCh37:
Chr16:3778427-3778428
GRCh38:
Chr16:3728426-3728427
CREBBPHistory of neurodevelopmental disorder, not specifiedLikely benign
(Dec 29, 2018)
criteria provided, multiple submitters, no conflictsVCV000210787
85.
GRCh37:
Chr16:3778427
GRCh38:
Chr16:3728426
CREBBPnot provided, History of neurodevelopmental disorder, not specified,
Rubinstein-Taybi syndrome
Benign
(Nov 6, 2020)
criteria provided, multiple submitters, no conflictsVCV000095063
86.
GRCh37:
Chr16:3778428-3778442
GRCh38:
Chr16:3728427-3728441
CREBBPnot specifiedLikely benign
(May 25, 2017)
criteria provided, single submitterVCV000509967
87.
GRCh37:
Chr16:3778439
GRCh38:
Chr16:3728438
CREBBPHistory of neurodevelopmental disorderLikely benign
(Feb 16, 2017)
criteria provided, single submitterVCV000589742
88.
GRCh37:
Chr16:3778439
GRCh38:
Chr16:3728438
CREBBPHistory of neurodevelopmental disorder, not specified, Rubinstein-Taybi syndrome,
not provided
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000095062
89.
GRCh37:
Chr16:3778440-3778448
GRCh38:
Chr16:3728439-3728447
CREBBPnot providedUncertain significance
(Mar 8, 2021)
criteria provided, single submitterVCV001188367
90.
GRCh37:
Chr16:3778440-3778442
GRCh38:
Chr16:3728439-3728441
CREBBPQ2216del, Q2178delnot providedUncertain significance
(Sep 16, 2018)
no assertion criteria providedVCV000591293
91.
GRCh37:
Chr16:3778484
GRCh38:
Chr16:3728483
CREBBPnot provided, not specified, History of neurodevelopmental disorder,
Rubinstein-Taybi syndrome
Benign/Likely benign
(Nov 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000095061
92.
GRCh37:
Chr16:3778498
GRCh38:
Chr16:3728497
CREBBPS2184G, S2146Gnot providedUncertain significance
(Jun 12, 2015)
criteria provided, single submitterVCV000095060
93.
GRCh37:
Chr16:3778499
GRCh38:
Chr16:3728498
CREBBPRubinstein-Taybi syndromeLikely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000716596
94.
GRCh37:
Chr16:3778524
GRCh38:
Chr16:3728523
CREBBPN2175S, N2137SHistory of neurodevelopmental disorder, not specifiedLikely benign
(Jan 5, 2017)
criteria provided, single submitterVCV000133937
95.
GRCh37:
Chr16:3778532
GRCh38:
Chr16:3728531
CREBBPHistory of neurodevelopmental disorder, not providedConflicting interpretations of pathogenicity
(Feb 28, 2017)
criteria provided, conflicting interpretationsVCV000444358
96.
GRCh37:
Chr16:3778594
GRCh38:
Chr16:3728593
CREBBPP2114S, P2152SRubinstein-Taybi syndrome 1Uncertain significance
(Feb 15, 2019)
criteria provided, single submitterVCV000989262
97.
GRCh37:
Chr16:3778594
GRCh38:
Chr16:3728593
CREBBPP2152A, P2114AHistory of neurodevelopmental disorderUncertain significance
(Jan 18, 2017)
criteria provided, single submitterVCV000589732
98.
GRCh37:
Chr16:3778596
GRCh38:
Chr16:3728595
CREBBPR2151P, R2113Pnot providedUncertain significance
(Mar 30, 2015)
criteria provided, single submitterVCV000196700
99.
GRCh37:
Chr16:3778598
GRCh38:
Chr16:3728597
CREBBPHistory of neurodevelopmental disorderLikely benign
(Sep 22, 2016)
criteria provided, single submitterVCV000589405
100.
GRCh37:
Chr16:3778599
GRCh38:
Chr16:3728598
CREBBPP2150L, P2112LRubinstein-Taybi syndrome 1Uncertain significance
(Feb 8, 2013)
criteria provided, single submitterVCV000158397
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