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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
POLR2F, PPARA, RFPL1, RPL3, MIF, PI4KA, ACO2, ADORA2A, LIMK2, MB, TRU-TCA2-1, TST, PMM1, SEPTIN5, DGCR2, SCO2, TAB1, HMGXB4, ARVCF, ATF4, LARGE1, SNAP29, MAPK12, ST13, ESS2, SYN3, SLC5A4, SLC7A4, SLC25A1, APOL1, THOC5, GRAP2, PICK1, MPPED1, SBF1, SLC5A1, SMTN, ZBED4, JOSD1, RBX1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, OSM, PDGFB, TOM1, DNAL4, SF3A1, CLTCL1, MAPK1, PRODH, TIMP3, CLDN5, NUP50, XBP1, PKDREJ, CACNG2, MAPK11, MCHR1, GSC2, CDC45, GALR3, CHKB, ATP6V1E1, BCR, BID, BIK, TSPO, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CYP2D7, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, NDUFA6, DRG1, NEFH, NF2, SNU13, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, TBX1, TCF20, TCN2, TEF, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, GSTT4, YWHAH-AS1, CBY1, SUN2, DGCR11, DGCR9, PLA2G6, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TPST2, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, IGLV11-55, IGLV10-54, IGLV9-49, IGLV8-61, IGLV7-46, IGLV7-43, IGLV6-57, IGLV5-52, IGLV5-48, IGLV5-45, IGLV5-37, IGLV4-69, IGLV4-60, IGLV4-3, IGLV3-32, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-21, IGLV3-19, IGLV3-16, IGLV3-12, IGLV3-10, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, IGLV2-18, IGLV2-14, IGLV2-11, IGLV2-8, IGLV1-51, IGLV1-50, IGLV1-47, IGLV1-44, IGLV1-40, IGLV1-36, IGLJ7, IGLJ6, IGLJ5, IGLJ4, TRIOBP, CDC42EP1, IGLJ3, IGLJ2, IGLJ1, IGLC7, CARD10, PARVB, NCAPH2, RFPL3S, RFPL3, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, RFPL2, RFPL1S, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, TOB2, KDELR3, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, IFT27, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, COMT, CPT1B, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, CSF2RB, CSNK1E, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LIF-AS2, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, RANGAP1, SELENOM, ZNF280B, LINC00895, LINC00896, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, MORC2-AS1, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, YWHAH, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, GSTT2, H1-0, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, SERPIND1, HMOX1, IGL, ATP5MGL, LINC02891, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, IGLC1, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, MIR3667HG, IGLC2, IGLC3, USP41, CHKB-CPT1B, CCDC188, FAM230I, LRRC75B, LINC00207, LRRC74B, DMC1, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MORC2, KIAA0930, ZNF70, PVALB, RAC2, RANBP1, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, FAM230E, LOC642648, TBC1D22A-AS1, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, CASTOR1, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, FAM230J, SEC14L6, DDTL, SNORD125, MIR301B, KIAA1671-AS1, LINC01310, CECR7, HDHD5-AS1, LOC100130899, NDUFA6-DT, CHKB-DT, LINC01634, LINC00899, PPM1F-AS1, MIR1286, MIR1249, MIR1306, MIR1281, MIR548J, MIR3200, MIR3201, MIR3199-2, MIR3198-1, MIR3199-1, IGLL5, MIR3909, MIR3619, MIR3653, MIR3618, MIR3667, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100506271, LOC100506472, L3MBTL2-AS1, TTLL1-AS1, NUP50-DT, LINC01589, TFIP11-DT, LINC02554, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, FAM230H, LINC01664, FAM230D, FAM230F, SPECC1L-ADORA2A, LINC02885, PDXP-DT, MRTFA-AS1, EP300-AS1, SCUBE1-AS1, LINC01656, LOC101927551, LINC01644, FAM230G, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-DT, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, LOC102724378, LINC02556, MIATNB, TPTEP2-CSNK1E, LINC01399, MGAT3-AS1, KCNJ4, LGALS1, LINC01651, LINC02557, MYO18B-AS1, LINC02559, SEZ6L-AS1, LOC105372977, LINC01638, LOC105372990, TTC28, SPECC1L, LGALS2, LIF, LINC02558, SYN3-AS1, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, SCUBE1-AS2, NIPSNAP1, LINC01639, LOC105373064, KLHDC7B-DT, LOC105373100, SNORA92, SNORD140, HSERVPRODH, LOC106780824, EIF3D, LOC106799832, LOC106799835, LOC107181287, NOA3, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, MTMR3, NCF4-AS1, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, SNORA50B, SNORA77B, LOC110091768, LOC110120880, LOC110120882, LOC110120883, GAL3ST1, GTPBP1, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, SLC5A4-AS1, LIF-AS1, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, SREBF2-AS1, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, TNRC6B-DT, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, CHEK2, PACSIN2, USP18, ZNF74, DGCR6, LZTR1, ACR, MN1, MPST, MYH9, NAGA, NCF4, GRK3, ADSL, MCM5, MFNG, MGAT3, AP1B1, RAB36, CELSR1, PPP6R2, SFI1, APOBEC3B, ARSA, GNAZ, GP1BB, PPM1F, DEPDC5, IGLL1, IL2RB, MMP11, CACNA1I, TOP3B, P2RX6, SYNGR1
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000144164
2.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
ACR, ACO2, ADORA2A, GRK3, ADSL, AP1B1, ARSA, ARVCF, ATF4, ATP6V1E1, BCR, BID, BIK, TSPO, MPPED1, CHKB, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, CSNK1E, CYP2D7, CYP2D6, DDT, CYB5R3, TYMP, EP300, EWSR1, FBLN1, XRCC6, GGT1, GGT5, GNAZ, GP1BB, MCHR1, GSC2, GSTT2, H1-0, SERPIND1, HMOX1, IGL, IGLC1, IGLC2, IGLC3, IGLL1, IL2RB, KCNJ4, LGALS1, LGALS2, LIF, LIMK2, MB, MCM5, MFNG, MGAT3, MIF, MMP11, MN1, MPST, MYH9, NAGA, NCF4, NDUFA6, DRG1, NEFH, NF2, SNU13, OSM, PDGFB, PI4KA, PMM1, SEPTIN5, POLR2F, PPARA, MAPK1, MAPK11, PRODH, PVALB, RAC2, RANBP1, RANGAP1, RFPL1, RPL3, MAPK12, SBF1, SLC5A1, SMTN, SLC5A4, SLC7A4, SLC25A1, SMARCB1, SNRPD3, SOX10, SREBF2, SSTR3, ST13, TBX1, TCF20, TCN2, TEF, TIMP3, CLDN5, TRU-TCA2-1, TST, HIRA, UBE2L3, UFD1, UPK3A, VPREB1, WNT7B, XBP1, YWHAH, ZNF70, ZNF74, DGCR6, LZTR1, CLTCL1, ESS2, SYN3, CDC45, PLA2G6, TPST2, GALR3, NIPSNAP1, APOL1, THOC5, EIF3D, MTMR3, CACNA1I, TOP3B, P2RX6, SYNGR1, LARGE1, SNAP29, GRAP2, PICK1, GAL3ST1, GTPBP1, APOBEC3B, RAB36, CELSR1, PPM1F, DEPDC5, PPP6R2, SFI1, ZBED4, JOSD1, RBX1, DGCR2, SCO2, HMGXB4, TOM1, DNAL4, SF3A1, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, TXNRD2, RASL10A, GAS2L1, RFPL3S, RFPL3, RFPL2, RFPL1S, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, CHEK2, PACSIN2, USP18, MORC2, TNRC6B, HIC2, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, TTC28, SPECC1L, GCAT, CBX6, NPTXR, PES1, CBX7, CABIN1, PRAME, SLC16A8, SEC14L2, MAPK8IP2, RBFOX2, SEZ6L, RASD2, PATZ1, SH3BP1, TSSK2, PLXNB2, SDF2L1, PPIL2, PITPNB, PISD, OSBP2, MAFF, IL17RA, BRD1, ARHGAP8, APOL2, BCL2L13, TFIP11, C22orf31, TBC1D22A, GSTT4, YWHAH-AS1, CBY1, SUN2, DGCR11, DGCR9, FBXO7, RHBDD3, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, DGCR5, DGCR10, ARFGAP3, SNORD43, TRMT2A, INPP5J, SMC1B, CYTH4, RSPH14, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, TMEM121B, HDHD5, CECR3, CECR2, IGLV11-55, IGLV10-54, IGLV9-49, IGLV8-61, IGLV7-46, IGLV7-43, IGLV6-57, IGLV5-52, IGLV5-48, IGLV5-45, IGLV5-37, IGLV4-69, IGLV4-60, IGLV4-3, IGLV3-32, IGLV3-27, IGLV3-25, IGLV3-22, IGLV3-21, IGLV3-19, IGLV3-16, IGLV3-12, IGLV3-10, IGLV3-9, IGLV3-1, IGLV2-33, IGLV2-23, IGLV2-18, IGLV2-14, IGLV2-11, IGLV2-8, IGLV1-51, IGLV1-50, IGLV1-47, IGLV1-44, IGLV1-40, IGLV1-36, IGLJ7, IGLJ6, IGLJ5, IGLJ4, IGLJ3, IGLJ2, IGLJ1, IGLC7, CARD10, PARVB, NCAPH2, UQCR10, YPEL1, ZDHHC8, VPREB3, PLA2G3, DRICH1, EIF3L, RTCB, GTSE1, MTFP1, MED15, UPB1, TUBA8, ADA2, A4GALT, MOV10L1, MIEF1, DGCR8, GNB1L, LINC01521, TUG1, FAM118A, TTC38, PRR34, MIOX, PRR5, PEX26, TRMU, ZMAT5, SEPTIN3, SUSD2, EIF4ENIF1, PANX2, TOMM22, PDXP, ASPHD2, MICAL3, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, MRPL40, RTN4R, SLC2A11, CENPM, ALG12, NOL12, CRELD2, RTL10, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, THAP7, APOL6, APOL5, APOL4, APOL3, GUCD1, SELENOO, SLC25A18, L3MBTL2, TBC1D10A, HDAC10, KREMEN1, ZNRF3, ASCC2, RTL6, POLDIP3, C22orf23, MYO18B, PHF5A, KLHL22, SHISAL1, SHANK3, DGCR6L, KIAA1656, RIMBP3, MICALL1, TUBGCP6, KIAA1671, HPS4, LOC90834, SCARF2, GGTLC2, LMF2, DERL3, LIF-AS2, RNF185, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, PIK3IP1, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, GAB4, C22orf39, TANGO2, ZNF280A, SGSM1, EMID1, ANKRD54, APOBEC3D, SELENOM, ZNF280B, LINC00895, LINC00896, AIFM3, RIMBP3C, YDJC, C22orf15, HSCB, CCDC117, HORMAD2, DUSP18, MORC2-AS1, C22orf42, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, CCDC116, CABP7, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, LINC00528, RNF215, APOBEC3A, APOBEC3F, PRR14L, SERHL2, BPIFC, TMEM211, SEC14L3, RGL4, RNU12, ATP5MGL, LINC02891, MIF-AS1, LOC284898, TTC28-AS1, SEC14L4, LOC284912, LOC284930, LOC284933, SLC35E4, LOC339666, TEX33, LINC00634, LOC339685, MIR3667HG, USP41, CHKB-CPT1B, CCDC188, FAM230I, LRRC75B, LINC00207, LRRC74B, CHCHD10, MIRLET7BHG, LINC00898, IL17REL, SRRD, MIRLET7A3, MIRLET7B, MIR130B, MIR185, MIR33A, LINC00229, DENND6B, PIM3, THAP7-AS1, RIMBP3B, PIWIL3, MIAT, SHISA8, ODF3B, CCDC157, PRR5-ARHGAP8, FAM230B, FAM230E, LOC642648, TBC1D22A-AS1, SYCE3, TMEM191C, ADORA2A-AS1, FAM227A, LL22NC03-63E9.3, CASTOR1, FAM230A, GSTT2B, MIR648, MIR649, MIR650, MIR658, MIR659, GGTLC3, TMEM191B, GGT2, FAM230J, SEC14L6, DDTL, SNORD125, MIR301B, KIAA1671-AS1, LINC01310, CECR7, HDHD5-AS1, LOC100130899, NDUFA6-DT, CHKB-DT, LINC01634, LINC00899, PPM1F-AS1, MIR1286, MIR1249, MIR1306, MIR1281, MIR548J, MIR3200, MIR3201, MIR3199-2, MIR3198-1, MIR3199-1, IGLL5, MIR3909, MIR3619, MIR3653, MIR3618, MIR3667, MIR3928, LARGE-AS1, LL22NC01-81G9.3, LOC100506271, LOC100506472, L3MBTL2-AS1, TTLL1-AS1, NUP50-DT, LINC01589, TFIP11-DT, LINC02554, SEPT5-GP1BB, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4764, MIR4761, MIR4535, LINC01311, MIR5571, ZNRF3-AS1, EFCAB6-AS1, APOBEC3B-AS1, FAM230H, LINC01664, FAM230D, FAM230F, SPECC1L-ADORA2A, LINC02885, PDXP-DT, MRTFA-AS1, EP300-AS1, SCUBE1-AS1, LINC01656, LOC101927551, LINC01644, FAM230G, LINC01637, LOC101929372, LINC01659, LINC01422, HORMAD2-AS1, PIK3IP1-DT, PCAT14, MIR6069, MIR6816, MIR6819, MIR6820, MIR6821, MIR7109, MIR5739, MIR6817, MIR6818, MIR6889, LINC01315, LOC102724378, LINC02556, MIATNB, TPTEP2-CSNK1E, LINC01399, MGAT3-AS1, LINC01651, LINC02557, MYO18B-AS1, LINC02559, SEZ6L-AS1, LOC105372977, LINC01638, LOC105372990, LINC02558, SYN3-AS1, LINC01640, LINC01643, LOC105373021, LOC105373031, LOC105373044, SCUBE1-AS2, LINC01639, LOC105373064, KLHDC7B-DT, LOC105373100, SNORA92, SNORD140, HSERVPRODH, LOC106780824, LOC106799832, LOC106799835, LOC107181287, NOA3, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, NCF4-AS1, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, SNORA50B, SNORA77B, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, SLC5A4-AS1, LIF-AS1, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, SREBF2-AS1, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, TNRC6B-DT, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137
See casesPathogenic
(Jul 30, 2010)
no assertion criteria providedVCV000145336
3.
GRCh37:
Chr22:34164428-51178405
GRCh38:
Chr22:33768441-50739977
ACR, ACO2, ADSL, ARSA, ATF4, BIK, TSPO, MPPED1, CHKB, CPT1B, CSF2RB, CSNK1E, CYP2D7, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, H1-0, HMOX1, IL2RB, KCNJ4, LGALS1, LGALS2, MB, MCM5, MFNG, MGAT3, MPST, MYH9, NAGA, NCF4, NDUFA6, SNU13, PDGFB, PMM1, POLR2F, PPARA, MAPK11, PVALB, RAC2, RANGAP1, RPL3, MAPK12, SBF1, SOX10, SREBF2, SSTR3, ST13, TCF20, TEF, TRU-TCA2-1, TST, UPK3A, WNT7B, PLA2G6, GALR3, APOL1, EIF3D, CACNA1I, SYNGR1, LARGE1, GRAP2, PICK1, GTPBP1, APOBEC3B, CELSR1, PPP6R2, ZBED4, JOSD1, RBX1, SCO2, HMGXB4, TOM1, DNAL4, PKDREJ, CACNG2, TAB1, SLC25A17, DDX17, NUP50, TOB2, KDELR3, IFT27, TRIOBP, CDC42EP1, DMC1, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, GCAT, CBX6, NPTXR, CBX7, SLC16A8, MAPK8IP2, RBFOX2, RASD2, SH3BP1, PLXNB2, MAFF, BRD1, ARHGAP8, APOL2, TBC1D22A, CBY1, SUN2, TTLL1, SAMM50, ATXN10, TAFA5, TXN2, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, SMC1B, CYTH4, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CARD10, PARVB, NCAPH2, EIF3L, GTSE1, A4GALT, MOV10L1, MIEF1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPTIN3, PANX2, TOMM22, PDXP, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, KCTD17, CCDC134, ADM2, FOXRED2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, APOL6, APOL5, APOL4, APOL3, SELENOO, L3MBTL2, HDAC10, RTL6, POLDIP3, C22orf23, PHF5A, SHISAL1, SHANK3, MICALL1, TUBGCP6, LOC90834, LMF2, ISX, RPS19BP1, SMDT1, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, RNU12, ATP5MGL, LOC284912, LOC284930, LOC284933, TEX33, LINC00634, LOC339685, MIR3667HG, CHKB-CPT1B, LINC00207, MIRLET7BHG, LINC00898, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, LINC00229, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, LOC642648, TBC1D22A-AS1, SYCE3, FAM227A, MIR658, MIR659, LINC01310, LOC100130899, NDUFA6-DT, CHKB-DT, LINC00899, MIR1249, MIR1281, MIR3201, MIR3909, MIR3619, MIR3667, LL22NC01-81G9.3, LOC100506271, LOC100506472, L3MBTL2-AS1, TTLL1-AS1, NUP50-DT, LINC01589, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4535, EFCAB6-AS1, APOBEC3B-AS1, LINC02885, PDXP-DT, MRTFA-AS1, EP300-AS1, SCUBE1-AS1, LINC01656, LOC101927551, LINC01644, MIR6069, MIR6819, MIR6820, MIR6821, MIR6889, LINC01315, LOC102724378, TPTEP2-CSNK1E, LINC01399, MGAT3-AS1, LINC01643, LOC105373021, LOC105373031, LOC105373044, SCUBE1-AS2, LINC01639, LOC105373064, KLHDC7B-DT, LOC105373100, SNORA92, SNORD140, LOC107181287, LOC107832855, LOC107985535, NCF4-AS1, LOC108281149, LOC108348030, LOC108660404, LOC110120880, LOC110120882, LOC110120883, LOC110120893, LOC110121397, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111828508, LOC111828509, SREBF2-AS1, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004362, LOC114004363, LOC114004364, LOC114827849, TNRC6B-DT, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057940
4.
GRCh37:
Chr22:37457809-51177360
GRCh38:
Chr22:37061769-50738932
ACR, ACO2, ADSL, ARSA, ATF4, BIK, TSPO, MPPED1, CHKB, CPT1B, CSNK1E, CYP2D7, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, H1-0, IL2RB, KCNJ4, LGALS1, LGALS2, MFNG, MGAT3, NAGA, NDUFA6, SNU13, PDGFB, PMM1, POLR2F, PPARA, MAPK11, RAC2, RANGAP1, RPL3, MAPK12, SBF1, SOX10, SREBF2, SSTR3, ST13, PLA2G6, GALR3, TCF20, TEF, TRU-TCA2-1, UPK3A, WNT7B, CACNA1I, SYNGR1, GRAP2, PICK1, GTPBP1, APOBEC3B, CELSR1, PPP6R2, ZBED4, JOSD1, RBX1, SCO2, DNAL4, PKDREJ, TAB1, SLC25A17, DDX17, NUP50, TOB2, KDELR3, TRIOBP, CDC42EP1, DMC1, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, GCAT, CBX6, NPTXR, CBX7, SLC16A8, MAPK8IP2, SH3BP1, PLXNB2, MAFF, BRD1, ARHGAP8, TBC1D22A, CBY1, SUN2, TTLL1, SAMM50, ATXN10, TAFA5, TMEM184B, SULT4A1, GGA1, RIBC2, ARFGAP3, SNORD43, SMC1B, CYTH4, CSDC2, RRP7A, MCAT, APOBEC3C, DESI1, SGSM3, CARD10, PARVB, NCAPH2, EIF3L, GTSE1, A4GALT, MOV10L1, MIEF1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPTIN3, PANX2, TOMM22, PDXP, MRTFA, APOBEC3G, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, NOL12, CRELD2, KCTD17, CCDC134, ADM2, BAIAP2L2, SCUBE1, TRABD, PNPLA3, SELENOO, L3MBTL2, HDAC10, RTL6, POLDIP3, C22orf23, PHF5A, SHISAL1, SHANK3, MICALL1, TUBGCP6, LOC90834, LMF2, RPS19BP1, SMDT1, PHF21B, KLHDC7B, FAM83F, ELFN2, C1QTNF6, TNFRSF13C, SNORD139, SNORD83A, SNORD83B, ANKRD54, APOBEC3D, ENTHD1, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, TMPRSS6, APOBEC3H, WBP2NL, TTLL8, POLR3H, APOBEC3A, APOBEC3F, SERHL2, RNU12, ATP5MGL, LOC284930, LOC284933, LINC00634, LOC339685, MIR3667HG, CHKB-CPT1B, LINC00207, MIRLET7BHG, LINC00898, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, LINC00229, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, LOC642648, TBC1D22A-AS1, SYCE3, FAM227A, MIR658, MIR659, LINC01310, LOC100130899, NDUFA6-DT, CHKB-DT, LINC00899, MIR1249, MIR1281, MIR3201, MIR3619, MIR3667, LOC100506271, LOC100506472, L3MBTL2-AS1, TTLL1-AS1, NUP50-DT, LINC01589, MIR4763, MIR4534, MIR4762, MIR378I, MIR4766, MIR4535, EFCAB6-AS1, APOBEC3B-AS1, PDXP-DT, MRTFA-AS1, EP300-AS1, SCUBE1-AS1, LINC01656, LOC101927551, LINC01644, MIR6820, MIR6821, MIR6889, LINC01315, LOC102724378, TPTEP2-CSNK1E, MGAT3-AS1, LOC105373031, LOC105373044, SCUBE1-AS2, LINC01639, LOC105373064, KLHDC7B-DT, LOC105373100, SNORA92, SNORD140, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110120880, LOC110120882, LOC110120883, LOC110120893, LOC110121397, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111828508, LOC111828509, SREBF2-AS1, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004362, LOC114004363, LOC114004364, LOC114827849, TNRC6B-DT, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057942
5.
GRCh37:
Chr22:40598018-51174234
GRCh38:
Chr22:40202014-50735806
ACO2, ADSL, ARSA, BIK, TSPO, MPPED1, CHKB, CPT1B, CYP2D7, CYP2D6, CYB5R3, TYMP, EP300, FBLN1, XRCC6, MCHR1, NAGA, NDUFA6, SNU13, PMM1, PPARA, MAPK11, RANGAP1, MAPK12, SBF1, SREBF2, ST13, TCF20, TEF, TRU-TCA2-1, UPK3A, WNT7B, CELSR1, PPP6R2, ZBED4, RBX1, SCO2, PKDREJ, SLC25A17, NUP50, TOB2, PACSIN2, TNRC6B, GRAMD4, TTLL12, MLC1, ZC3H7B, KIAA0930, MAPK8IP2, PLXNB2, BRD1, ARHGAP8, TBC1D22A, TTLL1, SAMM50, ATXN10, TAFA5, SULT4A1, RIBC2, ARFGAP3, SMC1B, CSDC2, RRP7A, MCAT, DESI1, SGSM3, PARVB, NCAPH2, GTSE1, A4GALT, MOV10L1, FAM118A, TTC38, PRR34, MIOX, PRR5, TRMU, SEPTIN3, PANX2, MRTFA, XPNPEP3, PARVG, CERK, EFCAB6, CENPM, ALG12, CRELD2, CCDC134, ADM2, SCUBE1, TRABD, PNPLA3, SELENOO, L3MBTL2, HDAC10, RTL6, POLDIP3, PHF5A, SHISAL1, SHANK3, TUBGCP6, LOC90834, LMF2, SMDT1, PHF21B, KLHDC7B, TNFRSF13C, DNAJB7, CHADL, MEI1, PHETA2, NFAM1, FLJ30901, PNPLA5, PRR34-AS1, CDPF1, GTSE1-DT, WBP2NL, TTLL8, POLR3H, SERHL2, RNU12, ATP5MGL, LOC284930, LOC284933, LINC00634, LOC339685, MIR3667HG, CHKB-CPT1B, LINC00207, MIRLET7BHG, LINC00898, IL17REL, MIRLET7A3, MIRLET7B, MIR33A, LINC00229, DENND6B, PIM3, SHISA8, ODF3B, PRR5-ARHGAP8, LOC642648, TBC1D22A-AS1, SYCE3, LINC01310, NDUFA6-DT, CHKB-DT, LINC00899, MIR1249, MIR1281, MIR3201, MIR3619, MIR3667, L3MBTL2-AS1, TTLL1-AS1, NUP50-DT, LINC01589, MIR4763, MIR4762, MIR378I, MIR4766, MIR4535, EFCAB6-AS1, MRTFA-AS1, EP300-AS1, SCUBE1-AS1, LINC01656, LOC101927551, LINC01644, MIR6821, MIR6889, LINC01315, LOC105373044, SCUBE1-AS2, LINC01639, LOC105373064, KLHDC7B-DT, SNORD140, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110121397, LOC110740340, LOC110740341, LOC111556137, LOC111562373, LOC111828508, LOC111828509, SREBF2-AS1, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, MIR12114, LOC114004363, LOC114004364, LOC114827849, LOC116309137
See casesPathogenic
(Nov 30, 2010)
no assertion criteria providedVCV000145111
6.
GRCh37:
Chr22:41165914-41756094
GRCh38:
Chr22:40769910-41360090
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria providedVCV000145112
7.
GRCh37:
Chr22:41256898-41702010
GRCh38:
Chr22:40860894-41306006
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057233
8.
GRCh37:
Chr22:41264983-41729217
GRCh38:
Chr22:40868979-41333213
Nephronophthisis-like nephropathy 1Uncertain significance
(Feb 10, 2017)
criteria provided, single submitterVCV000471411
9.
GRCh38:
Chr22:41092585-41117186
EP300Rubinstein-Taybi syndrome 2Pathogenic
(Apr 1, 2005)
no assertion criteria providedVCV000006884
10.
GRCh37:
Chr22:41489015
GRCh38:
Chr22:41093011
EP300E3KMenke-Hennekam syndrome 2Uncertain significance
(Oct 1, 2019)
criteria provided, single submitterVCV000931680
11.
GRCh37:
Chr22:41489020
GRCh38:
Chr22:41093016
EP300not providedLikely benign
(May 13, 2018)
criteria provided, single submitterVCV000719791
12.
GRCh37:
Chr22:41489075-41489076
GRCh38:
Chr22:41093071-41093072
EP300S24fsRubinstein-Taybi syndrome 2Pathogenic
(Sep 20, 2016)
criteria provided, single submitterVCV000264649
13.
GRCh37:
Chr22:41489077
GRCh38:
Chr22:41093073
EP300not providedLikely benign
(Aug 20, 2018)
criteria provided, single submitterVCV000765155
14.
GRCh37:
Chr22:41513175
GRCh38:
Chr22:41117171
EP300not specifiedBenigncriteria provided, single submitterVCV000258098
15.
GRCh37:
Chr22:41513198-41513201
GRCh38:
Chr22:41117194-41117197
EP300S35fsnot provided, Rubinstein-Taybi syndrome 2Pathogenic
(May 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000137620
16.
GRCh37:
Chr22:41513199
GRCh38:
Chr22:41117195
EP300S35Anot providedUncertain significance
(Jan 23, 2017)
criteria provided, single submitterVCV000499750
17.
GRCh37:
Chr22:41513204
GRCh38:
Chr22:41117200
EP300not providedLikely benign
(Mar 5, 2018)
criteria provided, single submitterVCV000783106
18.
GRCh37:
Chr22:41513352
GRCh38:
Chr22:41117348
EP300R86*not providedPathogenic
(Feb 19, 2019)
criteria provided, single submitterVCV000817520
19.
GRCh37:
Chr22:41513364-41513365
GRCh38:
Chr22:41117360-41117361
EP300not providedPathogenic
(Feb 11, 2020)
criteria provided, single submitterVCV000916060
20.
GRCh37:
Chr22:41513365
GRCh38:
Chr22:41117361
EP300P91fsInborn genetic diseasesPathogenic
(Sep 18, 2015)
criteria provided, single submitterVCV000520753
21.
GRCh37:
Chr22:41513366
GRCh38:
Chr22:41117362
EP300not providedLikely benign
(Dec 3, 2018)
criteria provided, single submitterVCV000752648
22.
GRCh37:
Chr22:41513398
GRCh38:
Chr22:41117394
EP300G101DRubinstein-Taybi syndrome 2, Chromosome 3pter-p25 deletion syndromeUncertain significance
(Feb 6, 2020)
criteria provided, single submitterVCV001011676
23.
GRCh37:
Chr22:41513403
GRCh38:
Chr22:41117399
EP300V103IColorectal cancer, Rubinstein-Taybi syndrome 2Uncertain significance
(Jul 3, 2018)
criteria provided, single submitterVCV000578464
24.
GRCh37:
Chr22:41513412
GRCh38:
Chr22:41117408
EP300S106Gnot specified, Rubinstein-Taybi syndrome 2, Colorectal cancer
Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000134041
25.
GRCh37:
Chr22:41513415
GRCh38:
Chr22:41117411
EP300Q107*not providedPathogenic
(Mar 28, 2017)
criteria provided, single submitterVCV000424555
26.
GRCh37:
Chr22:41513420
GRCh38:
Chr22:41117416
EP300Colorectal cancer, Rubinstein-Taybi syndrome 2, not specified
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000341775
27.
GRCh37:
Chr22:41513455
GRCh38:
Chr22:41117451
EP300S120NColorectal cancer, Rubinstein-Taybi syndrome 2Uncertain significance
(Feb 16, 2018)
criteria provided, single submitterVCV000570077
28.
GRCh37:
Chr22:41513459
GRCh38:
Chr22:41117455
EP300M121IRubinstein-Taybi syndromeUncertain significance
(Jan 1, 2019)
criteria provided, single submitterVCV000634578
29.
GRCh37:
Chr22:41513472
GRCh38:
Chr22:41117468
EP300M126Vnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134042
30.
GRCh37:
Chr22:41513540
GRCh38:
Chr22:41117536
EP300Rubinstein-Taybi syndrome 1, Colorectal cancer, Rubinstein-Taybi syndrome 2
Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000341776
31.
GRCh37:
Chr22:41513567
GRCh38:
Chr22:41117563
EP300not providedUncertain significance
(May 14, 2018)
criteria provided, single submitterVCV000597016
32.
GRCh37:
Chr22:41513587-41513590
GRCh38:
Chr22:41117583-41117586
EP300M165fsRubinstein-Taybi syndrome 2Pathogenic
(Nov 5, 2019)
no assertion criteria providedVCV000827620
33.
GRCh37:
Chr22:41513591
GRCh38:
Chr22:41117587
EP300M165Inot providedUncertain significance
(Jun 7, 2017)
criteria provided, single submitterVCV000432523
34.
GRCh37:
Chr22:41513609
GRCh38:
Chr22:41117605
EP300not providedLikely benign
(Feb 1, 2018)
criteria provided, single submitterVCV000341778
35.
GRCh37:
Chr22:41513632
GRCh38:
Chr22:41117628
EP300A179Gnot providedUncertain significance
(Dec 1, 2016)
criteria provided, single submitterVCV000425283
36.
GRCh37:
Chr22:41513665
GRCh38:
Chr22:41117661
EP300Q190Rnot providedUncertain significance
(Jul 25, 2018)
criteria provided, single submitterVCV000597987
37.
GRCh37:
Chr22:41513670
GRCh38:
Chr22:41117666
EP300M192Lnot providedUncertain significance
(Sep 6, 2016)
criteria provided, single submitterVCV000289515
38.
GRCh37:
Chr22:41513680
GRCh38:
Chr22:41117676
EP300S195*Rubinstein-Taybi syndrome 2, Colorectal cancerPathogenic
(Jan 24, 2019)
criteria provided, single submitterVCV000861851
39.
GRCh37:
Chr22:41513682
GRCh38:
Chr22:41117678
EP300I196VRubinstein-Taybi syndrome 2Uncertain significance
(May 12, 2014)
criteria provided, single submitterVCV000158567
40.
GRCh37:
Chr22:41513727
GRCh38:
Chr22:41117723
EP300G211Snot specified, Rubinstein-Taybi syndrome 2, Colorectal cancer
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000134043
41.
GRCh37:
Chr22:41513732
GRCh38:
Chr22:41117728
EP300G213fsRubinstein-Taybi syndrome 2Pathogenic
(Jan 1, 2010)
no assertion criteria providedVCV000030276
42.
GRCh37:
Chr22:41513746
GRCh38:
Chr22:41117742
EP300N217SIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975546
43.
GRCh37:
Chr22:41513774
GRCh38:
Chr22:41117770
EP300Colorectal cancer, Rubinstein-Taybi syndrome 2Benign
(Dec 31, 2019)
criteria provided, single submitterVCV000341781
44.
GRCh37:
Chr22:41521849-41521858
GRCh38:
Chr22:41125845-41125854
EP300Rubinstein-Taybi syndrome 1, not specified, Colorectal cancer,
Rubinstein-Taybi syndrome 2
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000093745
45.
GRCh37:
Chr22:41521877
GRCh38:
Chr22:41125873
EP300M247Vnot providedConflicting interpretations of pathogenicity
(Oct 9, 2017)
criteria provided, conflicting interpretationsVCV000281866
46.
GRCh37:
Chr22:41521887
GRCh38:
Chr22:41125883
EP300P250RRubinstein-Taybi syndrome 2Uncertain significance
(Jan 1, 2019)
criteria provided, single submitterVCV000982758
47.
GRCh37:
Chr22:41521890
GRCh38:
Chr22:41125886
EP300N251Snot provided, not specifiedBenign
(Jul 31, 2017)
criteria provided, single submitterVCV000134045
48.
GRCh37:
Chr22:41521906-41521923
GRCh38:
Chr22:41125902-41125919
EP300Rubinstein-Taybi syndrome 2Pathogenic
(Mar 20, 2016)
no assertion criteria providedVCV000235095
49.
GRCh37:
Chr22:41521919
GRCh38:
Chr22:41125915
EP300P261SIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000341784
50.
GRCh37:
Chr22:41521963
GRCh38:
Chr22:41125959
EP300not providedLikely benign
(May 16, 2018)
criteria provided, single submitterVCV000745749
51.
GRCh37:
Chr22:41521966
GRCh38:
Chr22:41125962
EP300T278fsColorectal cancer, Rubinstein-Taybi syndrome 2Pathogenic
(Apr 16, 2019)
criteria provided, single submitterVCV000947782
52.
GRCh37:
Chr22:41522003
GRCh38:
Chr22:41125999
EP300M289Vnot specified, Rubinstein-Taybi syndrome 2, Colorectal cancer
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000134046
53.
GRCh37:
Chr22:41522009
GRCh38:
Chr22:41126005
EP300K291EInborn genetic diseasesUncertain significance
(Jan 13, 2017)
criteria provided, single submitterVCV000521510
54.
GRCh37:
Chr22:41522040
GRCh38:
Chr22:41126036
EP300N301SIntellectual disabilityLikely benign
(Jan 1, 2019)
no assertion criteria providedVCV000975547
55.
GRCh37:
Chr22:41523470-41523479
GRCh38:
Chr22:41127466-41127475
EP300not specifiedBenign
(Feb 8, 2013)
criteria provided, single submitterVCV000210942
56.
GRCh37:
Chr22:41523481
GRCh38:
Chr22:41127477
EP300Colorectal cancer, Rubinstein-Taybi syndrome 2Likely benign
(Dec 31, 2019)
criteria provided, single submitterVCV000774371
57.
GRCh37:
Chr22:41523507
GRCh38:
Chr22:41127503
EP300P308Lnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134062
58.
GRCh37:
Chr22:41523526
GRCh38:
Chr22:41127522
EP300Colorectal cancer, Rubinstein-Taybi syndrome 2, not specified
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000158571
59.
GRCh37:
Chr22:41523536
GRCh38:
Chr22:41127532
EP300P318AChromosome 3pter-p25 deletion syndrome, Rubinstein-Taybi syndrome 2, not specified
Conflicting interpretations of pathogenicity
(Sep 24, 2020)
criteria provided, conflicting interpretationsVCV000218590
60.
GRCh37:
Chr22:41523601
GRCh38:
Chr22:41127597
EP300not providedLikely benign
(Jan 15, 2018)
criteria provided, single submitterVCV000733949
61.
GRCh37:
Chr22:41523650
GRCh38:
Chr22:41127646
EP300Q356*Inborn genetic diseasesPathogenic
(Aug 6, 2015)
criteria provided, single submitterVCV000520726
62.
GRCh37:
Chr22:41523676
GRCh38:
Chr22:41127672
EP300C364*not providedLikely pathogenicno assertion criteria providedVCV000191170
63.
GRCh37:
Chr22:41523678
GRCh38:
Chr22:41127674
EP300N365Snot specifiedUncertain significance
(Nov 10, 2020)
criteria provided, single submitterVCV000987872
64.
GRCh37:
Chr22:41523688
GRCh38:
Chr22:41127684
EP300Colorectal cancer, Rubinstein-Taybi syndrome 2Benign
(Dec 31, 2019)
criteria provided, single submitterVCV000712720
65.
GRCh37:
Chr22:41523734
GRCh38:
Chr22:41127730
EP300S384Anot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134063
66.
GRCh37:
Chr22:41523748
GRCh38:
Chr22:41127744
EP300C388*not providedLikely pathogenic
(Sep 1, 2017)
criteria provided, single submitterVCV000493346
67.
GRCh37:
Chr22:41523759
GRCh38:
Chr22:41127755
EP300not specified, Colorectal cancer, Rubinstein-Taybi syndrome 2
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000210937
68.
GRCh37:
Chr22:41523770
GRCh38:
Chr22:41127766
EP300not specifiedBenigncriteria provided, single submitterVCV000258094
69.
GRCh37:
Chr22:41525940
GRCh38:
Chr22:41129936
EP300not providedLikely benign
(Sep 29, 2018)
criteria provided, single submitterVCV000757162
70.
GRCh37:
Chr22:41527384
GRCh38:
Chr22:41131380
EP300not specified, Colorectal cancer, Rubinstein-Taybi syndrome 2
Benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000198132
71.
GRCh37:
Chr22:41527425
GRCh38:
Chr22:41131421
EP300N439Snot providedLikely benign
(Jun 22, 2018)
criteria provided, single submitterVCV000578386
72.
GRCh37:
Chr22:41527460
GRCh38:
Chr22:41131456
EP300P451Anot providedLikely benign
(Feb 2, 2018)
criteria provided, single submitterVCV000723861
73.
GRCh37:
Chr22:41527512
GRCh38:
Chr22:41131508
EP300Y468Fnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134064
74.
GRCh37:
Chr22:41527548
GRCh38:
Chr22:41131544
EP300M480Tnot providedLikely benign
(Jan 24, 2018)
criteria provided, single submitterVCV000727371
75.
GRCh37:
Chr22:41527551
GRCh38:
Chr22:41131547
EP300P481Lnot providedUncertain significance
(Dec 7, 2017)
criteria provided, single submitterVCV000595149
76.
GRCh37:
Chr22:41527557
GRCh38:
Chr22:41131553
EP300Q483LRubinstein-Taybi syndrome 2Uncertain significance
(Jan 25, 2018)
criteria provided, single submitterVCV001033839
77.
GRCh37:
Chr22:41527559
GRCh38:
Chr22:41131555
EP300Q485fsMicrocephalyPathogenicno assertion criteria providedVCV000813528
78.
GRCh37:
Chr22:41527562
GRCh38:
Chr22:41131558
EP300Q485Knot providedUncertain significance
(Nov 13, 2017)
criteria provided, single submitterVCV000594691
79.
GRCh37:
Chr22:41527616-41527617
GRCh38:
Chr22:41131612-41131613
EP300M503fsInborn genetic diseasesPathogenic
(Feb 11, 2016)
criteria provided, single submitterVCV000520954
80.
GRCh37:
Chr22:41527617
GRCh38:
Chr22:41131613
EP300M503TRubinstein-Taybi syndromeUncertain significance
(Nov 22, 2019)
criteria provided, single submitterVCV000973309
81.
GRCh37:
Chr22:41527625
GRCh38:
Chr22:41131621
EP300M506VRubinstein-Taybi syndrome 1Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000341786
82.
GRCh37:
Chr22:41527626
GRCh38:
Chr22:41131622
EP300M506fsnot providedPathogenic
(Feb 22, 2019)
criteria provided, single submitterVCV000817436
83.
GRCh37:
Chr22:41527628
GRCh38:
Chr22:41131624
EP300S507Gnot specified, Rubinstein-Taybi syndrome 2, Colorectal cancer
Benign
(Dec 31, 2019)
criteria provided, single submitterVCV000134065
84.
GRCh37:
Chr22:41531809
GRCh38:
Chr22:41135805
EP300Rubinstein-Taybi syndrome 2Uncertain significance
(Mar 4, 2013)
criteria provided, single submitterVCV000158556
85.
GRCh37:
Chr22:41531828
GRCh38:
Chr22:41135824
EP300M514VRubinstein-Taybi syndrome 2, Carcinoma of colonUncertain significance
(Aug 1, 2017)
criteria provided, single submitterVCV000341788
86.
GRCh37:
Chr22:41531829
GRCh38:
Chr22:41135825
EP300M514TRubinstein-Taybi syndrome 2, Chromosome 3pter-p25 deletion syndromeUncertain significance
(Mar 13, 2019)
criteria provided, single submitterVCV000857858
87.
GRCh37:
Chr22:41531860
GRCh38:
Chr22:41135856
EP300not provided, Colorectal cancer, Rubinstein-Taybi syndrome 2
Conflicting interpretations of pathogenicity
(Dec 31, 2019)
criteria provided, conflicting interpretationsVCV000502213
88.
GRCh37:
Chr22:41531861
GRCh38:
Chr22:41135857
EP300P525Snot providedUncertain significance
(Aug 11, 2015)
criteria provided, single submitterVCV000282586
89.
GRCh37:
Chr22:41531863
GRCh38:
Chr22:41135859
EP300not providedLikely benign
(Jan 12, 2018)
criteria provided, single submitterVCV000538874
90.
GRCh37:
Chr22:41531894-41531898
GRCh38:
Chr22:41135890-41135894
EP300Rubinstein-Taybi syndrome 2Pathogenic
(Nov 5, 2019)
no assertion criteria providedVCV000827621
91.
GRCh37:
Chr22:41531907
GRCh38:
Chr22:41135903
EP300Q540RGlobal developmental delay, Micrognathia, Facial grimacing,
Feeding difficulties, Thumb deformity (disease)
Likely benign
(Aug 26, 2015)
criteria provided, single submitterVCV000374013
92.
GRCh37:
Chr22:41533661
GRCh38:
Chr22:41137657
EP300M543VRubinstein-Taybi syndrome 2, Colorectal cancerUncertain significance
(Sep 28, 2017)
criteria provided, single submitterVCV000581340
93.
GRCh37:
Chr22:41533688
GRCh38:
Chr22:41137684
EP300S552Pnot specifiednot provided
(Sep 19, 2013)
no assertion providedVCV000134066
94.
GRCh37:
Chr22:41533706
GRCh38:
Chr22:41137702
EP300T558ARubinstein-Taybi syndrome 2Likely benignno assertion criteria providedVCV000375588
95.
GRCh37:
Chr22:41533720
GRCh38:
Chr22:41137716
EP300Colorectal cancer, Rubinstein-Taybi syndrome 2Benign
(Dec 31, 2019)
criteria provided, single submitterVCV000778975
96.
GRCh37:
Chr22:41533744
GRCh38:
Chr22:41137740
EP300not providedUncertain significance
(Dec 16, 2015)
criteria provided, single submitterVCV000285392
97.
GRCh37:
Chr22:41533772
GRCh38:
Chr22:41137768
EP300R580*Carcinoma of colon, Rubinstein-Taybi syndrome 2Pathogenic/Likely pathogenic
(Mar 1, 2000)
no assertion criteria providedVCV000006880
98.
GRCh37:
Chr22:41533814
GRCh38:
Chr22:41137810
EP300Menke-Hennekam syndrome 2Uncertain significance
(May 14, 2019)
criteria provided, single submitterVCV000931160
99.
GRCh37:
Chr22:41536164
GRCh38:
Chr22:41140160
EP300T594MMulticystic kidney dysplasiaUncertain significance
(May 28, 2020)
criteria provided, single submitterVCV000977155
100.
GRCh37:
Chr22:41536165
GRCh38:
Chr22:41140161
EP300not specified, Colorectal cancer, Rubinstein-Taybi syndrome 2
Benign/Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflictsVCV000158557
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