CREBBP[gene] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 585941.	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 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
Select item 1502842.	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 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
Select item 1475093.	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 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
Select item 1442984.	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 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
Select item 1556435.	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 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
Select item 586206.	GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 GRCh37: Chr16:2767953-4091021 GRCh38: Chr16:2717952-4041020	ADCY9, BICDL2, C16orf90, CLDN6, CLDN9, CLUAP1, CREBBP, DNASE1, ELOB, FLYWCH1, FLYWCH2, GREP1, HCFC1R1, IL32, KREMEN2, LINC00921, LINC02861, LOC100128770, LOC101929613, LOC113939950, LOC121530612, LOC121847968, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC126862261, LOC126862262, LOC126862263, LOC126862264, LOC126862265, MEFV, MIR6126, MMP25, MMP25-AS1, MTRNR2L4, NAA60, NLRC3, OR1F1, OR2C1, PAQR4, PKMYT1, PRSS21, PRSS22, PRSS27, PRSS33, PRSS41, SLX4, SNORA3C, SRRM2, SRRM2-AS1, THOC6, TIGD7, TNFRSF12A, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, ZG16B, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF597, ZNF75A, ZSCAN10, ZSCAN32		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 594287.	GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 GRCh37: Chr16:2900735-7160698 GRCh38: Chr16:2850734-7110697	ADCY9, ALG1, ANKS3, BICDL2, C16orf89, C16orf90, C16orf96, CDIP1, CLDN6, CLDN9, CLUAP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, DNAJA3, DNASE1, EEF2KMT, FLYWCH1, FLYWCH2, GLIS2, GLIS2-AS1, GLYR1, GREP1, HCFC1R1, HMOX2, IL32, KREMEN2, LINC00921, LINC01569, LINC01570, LINC02164, LINC02861, LOC100128770, LOC101929613, LOC107522031, LOC112441450, LOC113939950, LOC113939951, LOC121530612, LOC121530613, LOC121847968, LOC121847969, LOC125146379, LOC125146380, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, LOC125146391, LOC125146392, LOC125146393, LOC125146394, LOC126862263, LOC126862264, LOC126862265, LOC126862266, LOC126862267, LOC126862268, LOC126862269, LOC126862270, LOC126862271, LOC126862272, LOC126862273, LOC126862274, LOC126862275, MEFV, MGRN1, MIR6126, MIR6769A, MIR8065, MMP25, MMP25-AS1, MTRNR2L4, NAA60, NAGPA, NAGPA-AS1, NLRC3, NMRAL1, NUDT16L1, OR1F1, OR2C1, PAM16, PAQR4, PKMYT1, PPL, PRSS22, RBFOX1, ROGDI, SEC14L5, SEPTIN12, SLX4, SMIM22, SRL, TFAP4, THOC6, TIGD7, TNFRSF12A, TRAP1, TRK-CTT2-5, TRK-CTT3-1, TRK-CTT4-1, TRK-CTT5-1, TRK-CTT8-1, TRP-AGG1-1, TRP-AGG2-7, TRP-AGG2-8, TRP-CGG1-2, TRP-TGG3-3, TRP-TGG3-4, TRP-TGG3-5, TRR-CCG1-3, TRR-CCT3-1, TRR-CCT5-1, UBALD1, UBN1, VASN, ZNF174, ZNF200, ZNF205, ZNF205-AS1, ZNF213, ZNF213-AS1, ZNF263, ZNF500, ZNF597, ZNF75A, ZSCAN10, ZSCAN32		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1492988.	GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 GRCh37: Chr16:3353551-4015375 GRCh38: Chr16:3303551-3965374	ADCY9, C16orf90, CLUAP1, CREBBP, DNASE1, LINC02861, LOC121847968, LOC125146381, LOC125146382, LOC126862265, MIR6126, MTRNR2L4, NAA60, NLRC3, OR2C1, SLX4, TIGD7, TRAP1, ZNF174, ZNF597, ZNF75A, ZSCAN32		See cases	Likely pathogenic (Sep 4, 2012)	no assertion criteria provided
Select item 586219.	GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3 GRCh37: Chr16:3543167-4043346 GRCh38: Chr16:3493167-3993345	ADCY9, C16orf90, CLUAP1, CREBBP, DNASE1, LINC02861, LOC125146381, LOC125146382, NLRC3, SLX4, TRAP1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15224710.	GRCh38/hg38 16p13.3(chr16:3515534-3749385)x3 GRCh37: Chr16:3565534-3799386 GRCh38: Chr16:3515534-3749385	CLUAP1, CREBBP, DNASE1, NLRC3, SLX4, TRAP1		See cases	Uncertain significance (Apr 4, 2013)	no assertion criteria provided
Select item 14887911.	GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1 GRCh37: Chr16:3610565-4316797 GRCh38: Chr16:3560564-4266796	ADCY9, CREBBP, DNASE1, LINC01569, LINC02861, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, NLRC3, SLX4, SRL, TFAP4, TRAP1		See cases	Pathogenic (Nov 11, 2011)	no assertion criteria provided
Select item 5942912.	GRCh38/hg38 16p13.3(chr16:3607087-3877320)x1 GRCh37: Chr16:3657088-3927321 GRCh38: Chr16:3607087-3877320	CREBBP, DNASE1, LOC125146381, LOC125146382, SLX4, TRAP1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 168465913.	Single allele GRCh38: Chr16:3619617-4448281	ADCY9, CORO7, CORO7-PAM16, CREBBP, DNAJA3, DNASE1, GLIS2, GLIS2-AS1, LINC01569, LINC02861, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, PAM16, SRL, TFAP4, TRAP1, VASN		Pallister-Hall syndrome, Polysyndactyly 4, Greig cephalopolysyndactyly syndrome, Polydactyly, postaxial, type A1, Heart, malformation of, 2-3 toe syndactyly, Gastroesophageal reflux	Pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 15493314.	GRCh38/hg38 16p13.3(chr16:3666023-3759065)x3 GRCh37: Chr16:3716024-3809066 GRCh38: Chr16:3666023-3759065	CREBBP, TRAP1		See cases	Pathogenic (Sep 21, 2012)	no assertion criteria provided
Select item 14804015.	GRCh38/hg38 16p13.3(chr16:3666035-3767968)x1 GRCh37: Chr16:3716036-3817969 GRCh38: Chr16:3666035-3767968	CREBBP, TRAP1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 14802116.	GRCh38/hg38 16p13.3(chr16:3666035-3738579)x1 GRCh37: Chr16:3716036-3788580 GRCh38: Chr16:3666035-3738579	CREBBP, TRAP1		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 5862217.	GRCh38/hg38 16p13.3(chr16:3680455-3741327)x3 GRCh37: Chr16:3730456-3791328 GRCh38: Chr16:3680455-3741327	CREBBP, TRAP1		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15567218.	GRCh38/hg38 16p13.3(chr16:3700606-3810717)x1 GRCh37: Chr16:3750607-3860718 GRCh38: Chr16:3700606-3810717	CREBBP, TRAP1		See cases	Pathogenic (Mar 10, 2014)	no assertion criteria provided
Select item 5728119.	GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 GRCh37: Chr16:3760450-4694952 GRCh38: Chr16:3710449-4644951	ADCY9, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAJA3, GLIS2, GLIS2-AS1, HMOX2, LINC01569, LINC02861, LOC112441450, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, MGRN1, NMRAL1, PAM16, SRL, TFAP4, TRAP1, UBALD1, VASN		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 37563520.	NG_009873.1:g.(?_5000)_(160068_?)del GRCh37: Chr16:3775054-3930122 GRCh38: Chr16:3725053-3880121	CREBBP, LOC125146381, LOC125146382		Rubinstein-Taybi syndrome due to CREBBP mutations	Pathogenic (Nov 4, 2015)	criteria provided, single submitter
Select item 15443721.	GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 GRCh37: Chr16:3776703-4694962 GRCh38: Chr16:3726702-4644961	ADCY9, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAJA3, GLIS2, GLIS2-AS1, HMOX2, LINC01569, LINC02861, LOC112441450, LOC121530613, LOC125146381, LOC125146382, LOC125146383, LOC125146384, LOC125146386, LOC125146387, LOC125146388, LOC125146390, MGRN1, NMRAL1, PAM16, SRL, TFAP4, UBALD1, VASN		See cases	Pathogenic (Sep 30, 2010)	no assertion criteria provided
Select item 14554122.	GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1 GRCh37: Chr16:3776715-3809010 GRCh38: Chr16:3726714-3759009	CREBBP		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 244054223.	NM_004380.3(CREBBP):c.*929A>G GRCh37: Chr16:3776790 GRCh38: Chr16:3726789	CREBBP		not provided	Uncertain significance (Jul 29, 2020)	criteria provided, single submitter
Select item 52246224.	NM_004380.3(CREBBP):c.7261_*247delinsC (p.Ser2421_Ter2443delinsXaa) GRCh37: Chr16:3777472-3777787 GRCh38: Chr16:3727471-3727786	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations	Likely pathogenic (Sep 18, 2017)	no assertion criteria provided
Select item 130018025.	GRCh38/hg38 16p13.3(chr16:3727580-3851110)x1 GRCh38: Chr16:3727580-3851110	CREBBP		Rubinstein-Taybi syndrome	Pathogenic	no assertion criteria provided
Select item 129298626.	NM_004380.3(CREBBP):c.*28del GRCh37: Chr16:3777691 GRCh38: Chr16:3727690	CREBBP		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 126881227.	NM_004380.3(CREBBP):c.*25dup GRCh37: Chr16:3777693-3777694 GRCh38: Chr16:3727692-3727693	CREBBP		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 123014828.	NM_004380.3(CREBBP):c.*22T>C GRCh37: Chr16:3777697 GRCh38: Chr16:3727696	CREBBP		not provided	Benign (Mar 3, 2015)	criteria provided, single submitter
Select item 65738329.	NC_000016.10:g.(?_3727698)_(4802591_?)del GRCh37: Chr16:3777699-4852592 GRCh38: Chr16:3727698-4802591	DNAJA3, GLIS2, LINC01569, LINC02861, LOC112441450, LOC113939951, LOC121530613, GLIS2-AS1, LOC125146381, LOC125146382, LOC125146383, LOC125146384, HMOX2, LOC125146386, LOC125146387, LOC125146388, ADCY9, ANKS3, C16orf96, CDIP1, CORO7, CORO7-PAM16, CREBBP, DNAAF8, LOC125146390, LOC125146391, MGRN1, MIR6769A, NMRAL1, NUDT16L1, PAM16, ROGDI, SEPTIN12, SMIM22, SRL, TFAP4, UBALD1, VASN, ZNF500		Rubinstein-Taybi syndrome	Pathogenic (Aug 25, 2018)	criteria provided, single submitter
Select item 214484230.	NM_004380.3(CREBBP):c.7326G>A (p.Leu2442_Ter2443=) GRCh37: Chr16:3777722 GRCh38: Chr16:3727721	CREBBP		Rubinstein-Taybi syndrome	Benign (Jun 8, 2022)	criteria provided, single submitter
Select item 175827831.	NM_004380.3(CREBBP):c.7314T>C (p.Phe2438_Val2439=) GRCh37: Chr16:3777734 GRCh38: Chr16:3727733	CREBBP		Inborn genetic diseases	Likely benign (Jan 6, 2020)	criteria provided, single submitter
Select item 59209232.	NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) GRCh37: Chr16:3777737 GRCh38: Chr16:3727736	CREBBP	K2437N, K2399N	Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (May 3, 2018)	no assertion criteria provided
Select item 16696033.	NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) GRCh37: Chr16:3777746 GRCh38: Chr16:3727745	CREBBP		Inborn genetic diseases, Rubinstein-Taybi syndrome, not specified, not provided	Benign/Likely benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 15840134.	NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) GRCh37: Chr16:3777755 GRCh38: Chr16:3727754	CREBBP		Rubinstein-Taybi syndrome, not specified	Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74993335.	NM_004380.3(CREBBP):c.7290C>A (p.Thr2430=) GRCh37: Chr16:3777758 GRCh38: Chr16:3727757	CREBBP		not provided	Likely benign (Jun 14, 2018)	criteria provided, single submitter
Select item 121005136.	NM_004380.3(CREBBP):c.7282G>C (p.Gly2428Arg) GRCh37: Chr16:3777766 GRCh38: Chr16:3727765	CREBBP	G2390R, G2428R	not provided	Uncertain significance	no assertion criteria provided
Select item 198062737.	NM_004380.3(CREBBP):c.7281C>T (p.Val2427_Gly2428=) GRCh37: Chr16:3777767 GRCh38: Chr16:3727766	CREBBP		Rubinstein-Taybi syndrome	Benign (Apr 12, 2022)	criteria provided, single submitter
Select item 180652038.	NM_004380.3(CREBBP):c.7277T>A (p.Leu2426Gln) GRCh37: Chr16:3777771 GRCh38: Chr16:3727770	CREBBP	L2388Q, L2426Q	not provided	Uncertain significance (Jun 21, 2022)	criteria provided, single submitter
Select item 120503439.	NM_004380.3(CREBBP):c.7272G>T (p.Leu2424=) GRCh37: Chr16:3777776 GRCh38: Chr16:3727775	CREBBP		Rubinstein-Taybi syndrome, not provided	Likely benign (May 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214146140.	NM_004380.3(CREBBP):c.7257G>A (p.Ala2419_Leu2420=) GRCh37: Chr16:3777791 GRCh38: Chr16:3727790	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Apr 23, 2022)	criteria provided, single submitter
Select item 206607941.	NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val) GRCh37: Chr16:3777792 GRCh38: Chr16:3727791	CREBBP	A2419V, A2381V	Rubinstein-Taybi syndrome	Benign (May 27, 2022)	criteria provided, single submitter
Select item 216914542.	NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr) GRCh37: Chr16:3777793 GRCh38: Chr16:3727792	CREBBP	A2381T, A2419T	Rubinstein-Taybi syndrome	Benign (Jul 21, 2022)	criteria provided, single submitter
Select item 103078943.	NM_004380.3(CREBBP):c.7251G>A (p.Arg2417=) GRCh37: Chr16:3777797 GRCh38: Chr16:3727796	CREBBP		Menke-Hennekam syndrome 1	Uncertain significance (Dec 13, 2019)	criteria provided, single submitter
Select item 45820544.	NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) GRCh37: Chr16:3777803 GRCh38: Chr16:3727802	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Feb 4, 2017)	criteria provided, single submitter
Select item 214860345.	NM_004380.3(CREBBP):c.7243C>T (p.Pro2415Ser) GRCh37: Chr16:3777805 GRCh38: Chr16:3727804	CREBBP	P2377S, P2415S	Rubinstein-Taybi syndrome	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 154178246.	NM_004380.3(CREBBP):c.7239C>T (p.Asn2413=) GRCh37: Chr16:3777809 GRCh38: Chr16:3727808	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 70572347.	NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) GRCh37: Chr16:3777812 GRCh38: Chr16:3727811	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, not provided, Rubinstein-Taybi syndrome	Likely benign (Jul 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 223144248.	NM_004380.3(CREBBP):c.7222A>C (p.Met2408Leu) GRCh37: Chr16:3777826 GRCh38: Chr16:3727825	CREBBP	M2408L, M2370L	Inborn genetic diseases	Uncertain significance (Jun 18, 2021)	criteria provided, single submitter
Select item 133714149.	NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val) GRCh37: Chr16:3777826 GRCh38: Chr16:3727825	CREBBP	M2370V, M2408V	not specified	Uncertain significance (Jun 27, 2019)	criteria provided, single submitter
Select item 131505950.	NM_004380.3(CREBBP):c.7213C>G (p.Gln2405Glu) GRCh37: Chr16:3777835 GRCh38: Chr16:3727834	CREBBP	Q2367E, Q2405E	not provided	Uncertain significance (Jan 28, 2020)	criteria provided, single submitter
Select item 9506751.	NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) GRCh37: Chr16:3777836 GRCh38: Chr16:3727835	CREBBP		Rubinstein-Taybi syndrome, Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, not specified	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19026752.	NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys) GRCh37: Chr16:3777838 GRCh38: Chr16:3727837	CREBBP	E2404K, E2366K	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 175769853.	NM_004380.3(CREBBP):c.7209C>T (p.Pro2403_Glu2404=) GRCh37: Chr16:3777839 GRCh38: Chr16:3727838	CREBBP		Inborn genetic diseases	Likely benign (Apr 20, 2019)	criteria provided, single submitter
Select item 202631954.	NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala) GRCh37: Chr16:3777841 GRCh38: Chr16:3727840	CREBBP	P2365A, P2403A	Rubinstein-Taybi syndrome	Benign (Aug 23, 2022)	criteria provided, single submitter
Select item 170408855.	NM_004380.3(CREBBP):c.7204A>G (p.Asn2402Asp) GRCh37: Chr16:3777844 GRCh38: Chr16:3727843	CREBBP	N2364D, N2402D	not provided	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 193012356.	NM_004380.3(CREBBP):c.7203G>T (p.Gly2401_Asn2402=) GRCh37: Chr16:3777845 GRCh38: Chr16:3727844	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 215913757.	NM_004380.3(CREBBP):c.7198T>C (p.Leu2400_Gly2401=) GRCh37: Chr16:3777850 GRCh38: Chr16:3727849	CREBBP		Rubinstein-Taybi syndrome	Benign (Jul 14, 2022)	criteria provided, single submitter
Select item 133520358.	NM_004380.3(CREBBP):c.7197C>T (p.His2399=) GRCh37: Chr16:3777851 GRCh38: Chr16:3727850	CREBBP		not provided, Rubinstein-Taybi syndrome	Likely benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217501559.	NM_004380.3(CREBBP):c.7195C>T (p.His2399Tyr) GRCh37: Chr16:3777853 GRCh38: Chr16:3727852	CREBBP	H2361Y, H2399Y	Rubinstein-Taybi syndrome	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 77880360.	NM_004380.3(CREBBP):c.7194A>G (p.Gly2398=) GRCh37: Chr16:3777854 GRCh38: Chr16:3727853	CREBBP		Rubinstein-Taybi syndrome, not provided	Likely benign (Jul 6, 2021)	criteria provided, single submitter
Select item 103078861.	NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) GRCh37: Chr16:3777864 GRCh38: Chr16:3727863	CREBBP	I2395T, I2357T	Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to CREBBP mutations	Uncertain significance (Sep 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 131084262.	NM_004380.3(CREBBP):c.7182C>T (p.Ser2394=) GRCh37: Chr16:3777866 GRCh38: Chr16:3727865	CREBBP		not provided, Rubinstein-Taybi syndrome	Conflicting interpretations of pathogenicity (May 13, 2022)	criteria provided, conflicting interpretations
Select item 86159563.	NM_004380.3(CREBBP):c.7178G>C (p.Ser2393Thr) GRCh37: Chr16:3777870 GRCh38: Chr16:3727869	CREBBP	S2393T, S2355T	Rubinstein-Taybi syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 181059964.	NM_004380.3(CREBBP):c.7177A>G (p.Ser2393Gly) GRCh37: Chr16:3777871 GRCh38: Chr16:3727870	CREBBP	S2393G, S2355G	not provided	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 58749565.	NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) GRCh37: Chr16:3777886 GRCh38: Chr16:3727885	CREBBP	A2388T, A2350T	Inborn genetic diseases, Rubinstein-Taybi syndrome due to CREBBP mutations	Conflicting interpretations of pathogenicity (Apr 7, 2020)	criteria provided, conflicting interpretations
Select item 180378666.	NM_004380.3(CREBBP):c.7156G>A (p.Gly2386Arg) GRCh37: Chr16:3777892 GRCh38: Chr16:3727891	CREBBP	G2348R, G2386R	Menke-Hennekam syndrome 1	Uncertain significance (Nov 28, 2022)	criteria provided, single submitter
Select item 74643467.	NM_004380.3(CREBBP):c.7155C>T (p.Pro2385=) GRCh37: Chr16:3777893 GRCh38: Chr16:3727892	CREBBP		not provided	Likely benign (Jul 2, 2018)	criteria provided, single submitter
Select item 205046568.	NM_004380.3(CREBBP):c.7136A>C (p.Gln2379Pro) GRCh37: Chr16:3777912 GRCh38: Chr16:3727911	CREBBP	Q2341P, Q2379P	Rubinstein-Taybi syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 44435769.	NM_004380.3(CREBBP):c.7125C>T (p.His2375=) GRCh37: Chr16:3777923 GRCh38: Chr16:3727922	CREBBP		not provided, Rubinstein-Taybi syndrome, Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 103078770.	NM_004380.3(CREBBP):c.7118C>T (p.Pro2373Leu) GRCh37: Chr16:3777930 GRCh38: Chr16:3727929	CREBBP	P2335L, P2373L	Menke-Hennekam syndrome 1	Uncertain significance (Mar 6, 2020)	criteria provided, single submitter
Select item 165489671.	NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) GRCh37: Chr16:3777932 GRCh38: Chr16:3727931	CREBBP		Rubinstein-Taybi syndrome due to CREBBP mutations, Menke-Hennekam syndrome 1, Rubinstein-Taybi syndrome	Likely benign (Jun 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 131368872.	NM_004380.3(CREBBP):c.7110G>T (p.Gln2370His) GRCh37: Chr16:3777938 GRCh38: Chr16:3727937	CREBBP	Q2332H, Q2370H	not provided	Uncertain significance (Nov 25, 2020)	criteria provided, single submitter
Select item 171336273.	NM_004380.3(CREBBP):c.7106C>T (p.Pro2369Leu) GRCh37: Chr16:3777942 GRCh38: Chr16:3727941	CREBBP	P2331L, P2369L	Rubinstein-Taybi syndrome	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 244054874.	NM_004380.3(CREBBP):c.7098_7102dup (p.Gln2368fs) GRCh37: Chr16:3777945-3777946 GRCh38: Chr16:3727944-3727945	CREBBP	Q2330fs, Q2368fs	not provided	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 15840075.	NM_004380.3(CREBBP):c.7098G>C (p.Arg2366=) GRCh37: Chr16:3777950 GRCh38: Chr16:3727949	CREBBP		not specified	Benign (Feb 8, 2013)	criteria provided, single submitter
Select item 71542976.	NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) GRCh37: Chr16:3777959 GRCh38: Chr16:3727958	CREBBP		not provided	Benign (Dec 17, 2020)	criteria provided, multiple submitters, no conflicts
Select item 58284477.	NM_004380.3(CREBBP):c.7058_7078del (p.Arg2353_Pro2359del) GRCh37: Chr16:3777970-3777990 GRCh38: Chr16:3727969-3727989	CREBBP		Rubinstein-Taybi syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 52387778.	NM_004380.3(CREBBP):c.7063C>T (p.Gln2355Ter) GRCh37: Chr16:3777985 GRCh38: Chr16:3727984	CREBBP	Q2355, Q2317	not provided	Uncertain significance (Apr 13, 2018)	criteria provided, single submitter
Select item 206250079.	NM_004380.3(CREBBP):c.7062C>T (p.Pro2354_Gln2355=) GRCh37: Chr16:3777986 GRCh38: Chr16:3727985	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 195402580.	NM_004380.3(CREBBP):c.7041C>T (p.Ala2347_Pro2348=) GRCh37: Chr16:3778007 GRCh38: Chr16:3728006	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 15839981.	NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) GRCh37: Chr16:3778008 GRCh38: Chr16:3728007	CREBBP	A2347V, A2309V	not specified	Likely benign (Feb 8, 2013)	criteria provided, single submitter
Select item 117664082.	NM_004380.3(CREBBP):c.7039G>A (p.Ala2347Thr) GRCh37: Chr16:3778009 GRCh38: Chr16:3728008	CREBBP	A2309T, A2347T	not provided	Uncertain significance (Mar 1, 2021)	criteria provided, single submitter
Select item 130568483.	NM_004380.3(CREBBP):c.7031G>A (p.Arg2344Gln) GRCh37: Chr16:3778017 GRCh38: Chr16:3728016	CREBBP	R2306Q, R2344Q	not provided	Uncertain significance (May 7, 2019)	criteria provided, single submitter
Select item 217677784.	NM_004380.3(CREBBP):c.7030C>T (p.Arg2344Trp) GRCh37: Chr16:3778018 GRCh38: Chr16:3728017	CREBBP	R2344W, R2306W	Rubinstein-Taybi syndrome	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 171527485.	NM_004380.3(CREBBP):c.7023C>G (p.Asn2341Lys) GRCh37: Chr16:3778025 GRCh38: Chr16:3728024	CREBBP	N2303K, N2341K	Rubinstein-Taybi syndrome	Uncertain significance (Sep 21, 2022)	criteria provided, single submitter
Select item 78954386.	NM_004380.3(CREBBP):c.7011G>A (p.Thr2337=) GRCh37: Chr16:3778037 GRCh38: Chr16:3728036	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 170759987.	NM_004380.3(CREBBP):c.7010C>T (p.Thr2337Met) GRCh37: Chr16:3778038 GRCh38: Chr16:3728037	CREBBP	T2299M, T2337M	Menke-Hennekam syndrome 1	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 211825088.	NM_004380.3(CREBBP):c.7006G>A (p.Ala2336Thr) GRCh37: Chr16:3778042 GRCh38: Chr16:3728041	CREBBP	A2336T, A2298T	Rubinstein-Taybi syndrome	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 190905489.	NM_004380.3(CREBBP):c.7005C>T (p.Ile2335_Ala2336=) GRCh37: Chr16:3778043 GRCh38: Chr16:3728042	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 97552190.	NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His) GRCh37: Chr16:3778046 GRCh38: Chr16:3728045	CREBBP	Q2296H, Q2334H	Intellectual disability	Likely benign (Jan 1, 2019)	no assertion criteria provided
Select item 42361591.	NM_004380.3(CREBBP):c.6988C>T (p.Leu2330Phe) GRCh37: Chr16:3778060 GRCh38: Chr16:3728059	CREBBP	L2330F, L2292F	not provided	Likely pathogenic (Feb 15, 2017)	criteria provided, single submitter
Select item 215211292.	NM_004380.3(CREBBP):c.6972G>A (p.Gln2324_Pro2325=) GRCh37: Chr16:3778076 GRCh38: Chr16:3728075	CREBBP		Rubinstein-Taybi syndrome	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 130906293.	NM_004380.3(CREBBP):c.6970C>T (p.Gln2324Ter) GRCh37: Chr16:3778078 GRCh38: Chr16:3728077	CREBBP	Q2286, Q2324	not provided	Uncertain significance (Oct 14, 2019)	criteria provided, single submitter
Select item 242009694.	NM_004380.3(CREBBP):c.6969A>G (p.Gly2323_Gln2324=) GRCh37: Chr16:3778079 GRCh38: Chr16:3728078	CREBBP		Rubinstein-Taybi syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 13393895.	NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) GRCh37: Chr16:3778092 GRCh38: Chr16:3728091	CREBBP	H2319L, H2281L	Rubinstein-Taybi syndrome	Uncertain significance (Sep 23, 2022)	criteria provided, single submitter
Select item 187878896.	NM_004380.3(CREBBP):c.6953A>C (p.Gln2318Pro) GRCh37: Chr16:3778095 GRCh38: Chr16:3728094	CREBBP	Q2280P, Q2318P	not provided	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 244055597.	NM_004380.3(CREBBP):c.6949C>G (p.Gln2317Glu) GRCh37: Chr16:3778099 GRCh38: Chr16:3728098	CREBBP	Q2279E, Q2317E	not provided	Uncertain significance (May 10, 2021)	criteria provided, single submitter
Select item 74968398.	NM_004380.3(CREBBP):c.6945C>T (p.Ser2315=) GRCh37: Chr16:3778103 GRCh38: Chr16:3728102	CREBBP		not provided	Likely benign (Jun 26, 2018)	criteria provided, single submitter
Select item 215834599.	NM_004380.3(CREBBP):c.6933G>A (p.Pro2311_Asn2312=) GRCh37: Chr16:3778115 GRCh38: Chr16:3728114	CREBBP		Rubinstein-Taybi syndrome	Benign (Sep 15, 2022)	criteria provided, single submitter
Select item 2153406100.	NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu) GRCh37: Chr16:3778116 GRCh38: Chr16:3728115	CREBBP	P2311L, P2273L	Rubinstein-Taybi syndrome	Benign (Aug 20, 2022)	criteria provided, single submitter

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