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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
APOBEC3D, APOBEC3F, C22orf23, CECR2, CECR3, CECR7, CELSR1, CENPM, DGCR6L, DGCR8, DGCR9, DMC1, DNAJB7, APOBEC3G, C22orf31, CERK, DNAL4, DRG1, FBLN1, GTSE1, GTSE1-DT, IGLL5, IGLV4-3, IGLV4-60, IGLV4-69, IGLV5-37, KIAA1671-AS1, LINC01399, LINC01422, LMF2, LOC100130899, LOC100506271, LOC107985544, LOC111188159, LOC111519898, LOC112695089, LOC112695090, LOC116309131, LOC116309132, LOC121627951, LOC121627952, LOC125424387, LOC125424388, LOC125446213, LOC125446214, LOC125446243, LOC125446244, LOC125446246, LOC125446254, LOC125446255, LOC125446257, LOC125446230, LOC125446231, LOC125446219, LOC125446220, LOC125446222, LOC125446247, LOC125446248, LOC125446250, LOC125446253, LOC125446258, LOC125446259, LOC125446215, LOC125446216, LOC125446217, LOC125446225, LOC125446226, LOC125424395, LOC125424396, LOC125424397, LOC125424398, LOC125424399, LOC125424400, LOC125424401, LOC125424402, LOC125424403, LOC125424404, LOC125424407, LOC125446228, LOC125446229, LOC125446218, LOC125446223, LOC125446224, LOC121627953, LOC121627954, LOC121853037, LOC121853038, LOC121853042, LOC121853043, LOC121853044, LOC121853045, LOC121853035, LOC121853036, LOC121853039, LOC121853040, LOC121853041, LOC121853046, LOC121853047, LOC121627955, LOC121627956, LOC125446227, LOC125424389, LOC125424390, LOC125424391, LOC125424392, LOC116309133, LOC116309134, LOC116309135, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC121627939, LOC121627940, LOC121627941, LOC121627942, LOC116309136, LOC116309137, LOC121627928, LOC125424393, LOC125424394, LOC112695092, LOC112695093, LOC114004361, LOC114004362, LOC114004363, LOC111828508, LOC111828509, LOC112694764, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112694766, LOC112694767, LOC112694768, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC108178988, LOC108281149, LOC108348030, LOC108491837, LOC108510655, LOC108660404, LOC110120882, LOC110120883, LOC110120888, LOC108353816, LOC108491832, LOC110091768, LOC110120880, LOC110120893, LOC110121337, LOC110121397, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC100506472, LOC101927551, LOC101929372, LOC102724378, LOC106799832, LOC106799835, LOC107181287, LOC107275225, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LINC01664, LINC02554, LINC02556, LINC02557, LOC105373064, LOC105373100, LOC106780824, LOC107275221, LOC107275224, LOC111721702, LOC111828506, LOC111828507, LINC01521, LINC01589, LINC01634, L3MBTL2-AS1, LARGE-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC01639, LINC01640, LINC01643, LINC01644, LINC01651, LINC01637, LINC01638, KLHDC7B, KLHDC7B-DT, IGLV5-45, IGLV7-46, IGLV8-61, IL2RB, IGLV5-48, IGLV5-52, IGLV6-57, IGLV7-43, IGLV9-49, IL17RA, IL17REL, INPP5J, ISX, LINC01656, LINC01659, KLHL22, KREMEN1, L3MBTL2, IGLV1-36, IGLV1-40, IGLV10-54, IGLV11-55, IGLV1-44, IGLV1-47, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGL, IGLC1, IGLC2, IGLC3, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-10, IGLV3-12, IGLV1-50, IGLV1-51, GUCD1, H1-0, HDAC10, HDHD5, IGLC7, IGLJ1, GGT5, GP1BB, GRAP2, GRK3, GGTLC2, GGTLC3, HDHD5-AS1, HIC2, HSCB, HSERVPRODH, IFT27, FBXO7, FLJ30901, FOXRED2, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, DUSP18, EFCAB6, EFCAB6-AS1, FAM227A, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, GNAZ, GNB1L, GRAMD4, GGT1, GGT2, DRICH1, EIF3D, CHADL, CHCHD10, DDTL, COMT, CPT1B, CRELD2, CRKL, CRYBA4, DDX17, DENND6B, DEPDC5, CCDC116, CCDC117, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CBX6, CBX7, CRYBB1, C22orf39, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, APOL2, CBY1, APOL1, APOBEC3H, AIFM3, ADSL, ADORA2A, ALG12, ACR, ADA2, ADM2, ADORA2A-AS1, A4GALT, ACO2, APOL3, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, CCDC134, CCDC157, CCDC188, CDC42EP1, CDC45, CDPF1, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CLDN5, CLTCL1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DERL3, DESI1, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM83F, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLJ7, IGLL1, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGLV3-27, IGLV3-32, IGLV3-9, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, KIAA1671, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC114004364, LOC114827849, LOC114827861, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121853048, LOC122455341, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC125424386, LOC125424408, LOC125424409, LOC125424410, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125446212, LOC125446232, LOC125446233, LOC125446234, LOC125446235, LOC125446236, LOC125446237, LOC125446238, LOC125446239, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC126863097, LOC126863098, LOC126863099, LOC126863100, LOC126863101, LOC126863102, LOC126863103, LOC126863104, LOC126863105, LOC126863106, LOC126863107, LOC126863108, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863113, LOC126863114, LOC126863115, LOC126863116, LOC126863117, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC126863122, LOC126863123, LOC126863124, LOC126863125, LOC126863126, LOC126863127, LOC126863128, LOC126863129, LOC126863130, LOC126863131, LOC126863132, LOC126863133, LOC126863134, LOC126863135, LOC126863136, LOC126863137, LOC126863138, LOC126863139, LOC126863140, LOC126863141, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC126863151, LOC126863152, LOC126863153, LOC126863154, LOC126863155, LOC126863156, LOC126863157, LOC126863158, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128706667, LOC128772428, LOC128772429, LOC128772430, LOC128772431, LOC128772432, LOC128772433, LOC128772434, LOC128772435, LOC128772436, LOC128772437, LOC128772438, LOC284898, LOC284912, LOC284933, LOC339666, LOC339685, LOC90834, LRRC74B, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MGAT3-AS1, MIAT, MIATNB, MICAL3, MICALL1, MIEF1, MIF, MIF-AS1, MIOX, MIR12114, MIR1249, MIR1281, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3198-1, MIR3199-1, MIR3199-2, MIR3200, MIR3201, MIR33A, MIR3618, MIR3619, MIR3653, MIR3667, MIR3667HG, MIR378I, MIR3909, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MIR5571, MIR5739, MIR6069, MIR648, MIR649, MIR650, MIR658, MIR659, MIR6816, MIR6817, MIR6818, MIR6819, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIRLET7B, MIRLET7BHG, MIURF, MLC1, MMP11, MN1, MORC2, MORC2-AS1, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MRTFA-AS1, MTFP1, MTMR3, MYH9, MYH9-DT, MYO18B, MYO18B-AS1, NAGA, NCAPH2, NCF4, NCF4-AS1, NDUFA6, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, NIPSNAP1, NOA3, NOL12, NPTXR, NUP50, NUP50-DT, ODF3B, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PDXP-DT, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SNAP29, SNORA50B, SNORA77B, SNORA92, SNORD125, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TIMP3, TMA7B, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRMU, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
2.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADORA2A-AS1, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCDC188, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CECR7, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM83F, FBLN1, FBXO7, FLJ30901, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, GTSE1, GTSE1-DT, GUCD1, H1-0, HDAC10, HDHD5, HDHD5-AS1, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, HSERVPRODH, IFT27, IGL, IGLC1, IGLC2, IGLC3, IGLC7, IGLJ1, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLJ7, IGLL1, IGLL5, IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-10, IGLV3-12, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGLV3-27, IGLV3-32, IGLV3-9, IGLV4-3, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV5-52, IGLV6-57, IGLV7-43, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, KIAA1671, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC01399, LINC01422, LINC01521, LINC01589, LINC01634, LINC01637, LINC01638, LINC01639, LINC01640, LINC01643, LINC01644, LINC01651, LINC01656, LINC01659, LINC01664, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100130899, LOC100506271, LOC100506472, LOC101927551, LOC101929372, LOC102724378, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC106780824, LOC106799832, LOC106799835, LOC107181287, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, 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, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627928, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121627939, LOC121627940, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853035, LOC121853036, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC121853041, LOC121853042, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC122455341, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC125424386, LOC125424387, LOC125424388, LOC125424389, LOC125424390, LOC125424391, LOC125424392, LOC125424393, LOC125424394, LOC125424395, LOC125424396, LOC125424397, LOC125424398, LOC125424399, LOC125424400, LOC125424401, LOC125424402, LOC125424403, LOC125424404, LOC125424407, LOC125424408, LOC125424409, LOC125424410, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125446212, LOC125446213, LOC125446214, LOC125446215, LOC125446216, LOC125446217, LOC125446218, LOC125446219, LOC125446220, LOC125446222, LOC125446223, LOC125446224, LOC125446225, LOC125446226, LOC125446227, LOC125446228, LOC125446229, LOC125446230, LOC125446231, LOC125446232, LOC125446233, LOC125446234, LOC125446235, LOC125446236, LOC125446237, LOC125446238, LOC125446239, LOC125446243, LOC125446244, LOC125446246, LOC125446247, LOC125446248, LOC125446250, LOC125446253, LOC125446254, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC126863097, LOC126863098, LOC126863099, LOC126863100, LOC126863101, LOC126863102, LOC126863103, LOC126863104, LOC126863105, LOC126863106, LOC126863107, LOC126863108, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863113, LOC126863114, LOC126863115, LOC126863116, LOC126863117, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC126863122, LOC126863123, LOC126863124, LOC126863125, LOC126863126, LOC126863127, LOC126863128, LOC126863129, LOC126863130, LOC126863131, LOC126863132, LOC126863133, LOC126863134, LOC126863135, LOC126863136, LOC126863137, LOC126863138, LOC126863139, LOC126863140, LOC126863141, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC126863151, LOC126863152, LOC126863153, LOC126863154, LOC126863155, LOC126863156, LOC126863157, LOC126863158, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128706667, LOC128772428, LOC128772429, LOC128772430, LOC128772431, LOC128772432, LOC128772433, LOC128772434, LOC128772435, LOC128772436, LOC128772437, LOC128772438, LOC284898, LOC284912, LOC284933, LOC339666, LOC339685, LOC90834, LRRC74B, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MGAT3-AS1, MIAT, MIATNB, MICAL3, MICALL1, MIEF1, MIF, MIF-AS1, MIOX, MIR12114, MIR1249, MIR1281, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3198-1, MIR3199-1, MIR3199-2, MIR3200, MIR3201, MIR33A, MIR3618, MIR3619, MIR3653, MIR3667, MIR3667HG, MIR378I, MIR3909, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MIR5571, MIR5739, MIR6069, MIR648, MIR649, MIR650, MIR658, MIR659, MIR6816, MIR6817, MIR6818, MIR6819, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIRLET7B, MIRLET7BHG, MIURF, MLC1, MMP11, MN1, MORC2, MORC2-AS1, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MRTFA-AS1, MTFP1, MTMR3, MYH9, MYH9-DT, MYO18B, MYO18B-AS1, NAGA, NCAPH2, NCF4, NCF4-AS1, NDUFA6, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, NIPSNAP1, NOA3, NOL12, NPTXR, NUP50, NUP50-DT, ODF3B, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PDXP-DT, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SNAP29, SNORA50B, SNORA77B, SNORA92, SNORD125, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TIMP3, TMA7B, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TRMU, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
3.
GRCh37:
Chr22:37457809-51177360
GRCh38:
Chr22:37061769-50738932
A4GALT, ACO2, ACR, ADM2, ADSL, ALG12, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, ARFGAP3, ARHGAP8, ARSA, ATF4, ATP5MGL, ATXN10, BAIAP2L2, BIK, BRD1, C1QTNF6, C22orf23, CACNA1I, CARD10, CBX6, CBX7, CBY1, CCDC134, CDC42EP1, CDPF1, CELSR1, CENPM, CERK, CHADL, CHKB, CHKB-CPT1B, CHKB-DT, CPT1B, CRELD2, CSDC2, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDX17, DENND6B, DESI1, DMC1, DNAJB7, DNAL4, EFCAB6, EFCAB6-AS1, EIF3L, ELFN2, ENTHD1, EP300, EP300-AS1, EPIC1, FAM118A, FAM227A, FAM83F, FBLN1, FLJ30901, GALR3, GCAT, GGA1, GRAMD4, GRAP2, GTPBP1, GTSE1, GTSE1-DT, H1-0, HDAC10, IL17REL, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KLHDC7B, KLHDC7B-DT, L3MBTL2, L3MBTL2-AS1, LGALS1, LGALS2, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01315, LINC01589, LINC01639, LINC01644, LINC01656, LINC02939, LMF2, LOC100130899, LOC100506271, LOC100506472, LOC101927551, LOC102724378, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110120880, LOC110120882, LOC110120883, LOC110120893, LOC110121397, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111828508, LOC111828509, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC125446229, LOC125446230, LOC125446231, LOC125446232, LOC125446233, LOC125446234, LOC125446235, LOC125446236, LOC125446237, LOC125446238, LOC125446239, LOC125446243, LOC125446244, LOC125446246, LOC125446247, LOC125446248, LOC125446250, LOC125446253, LOC125446254, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863141, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC126863151, LOC126863152, LOC126863153, LOC126863154, LOC126863155, LOC126863156, LOC126863157, LOC126863158, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128706667, LOC128772428, LOC128772429, LOC128772430, LOC128772431, LOC128772432, LOC128772433, LOC128772434, LOC128772435, LOC128772436, LOC128772437, LOC128772438, LOC284933, LOC339685, LOC90834, MAFF, MAPK11, MAPK12, MAPK8IP2, MCAT, MCHR1, MEI1, MFNG, MGAT3, MGAT3-AS1, MICALL1, MIEF1, MIOX, MIR12114, MIR1249, MIR1281, MIR3201, MIR33A, MIR3619, MIR3667, MIR3667HG, MIR378I, MIR4534, MIR4535, MIR4762, MIR4763, MIR4766, MIR658, MIR659, MIR6820, MIR6821, MIR6889, MIRLET7A3, MIRLET7B, MIRLET7BHG, MIURF, MLC1, MOV10L1, MPPED1, MRTFA, MRTFA-AS1, NAGA, NCAPH2, NDUFA6, NDUFA6-DT, NFAM1, NHIP, NOL12, NPTXR, NUP50, NUP50-DT, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PDGFB, PDXP, PDXP-DT, PHETA2, PHF21B, PHF5A, PICK1, PIM3, PKDREJ, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RAC2, RANGAP1, RBX1, RIBC2, RNU12, RPL3, RPS19BP1, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SEPTIN3, SERHL2, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A17, SMC1B, SMDT1, SMIM45, SNORA92, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SREBF2-AS1, SSTR3, ST13, SULT4A1, SUN2, SYCE3, SYNGR1, TAB1, TAFA5, TBC1D22A, TBC1D22A-AS1, TCF20, TEF, TMA7B, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOMM22, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, XPNPEP3, XRCC6, ZBED4, ZC3H7B
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
GRCh37:
Chr22:40598018-51174234
GRCh38:
Chr22:40202014-50735806
A4GALT, ACO2, ADM2, ADSL, ALG12, ARFGAP3, ARHGAP8, ARSA, ATP5MGL, ATXN10, BIK, BRD1, CCDC134, CDPF1, CELSR1, CENPM, CERK, CHADL, CHKB, CHKB-CPT1B, CHKB-DT, CPT1B, CRELD2, CSDC2, CYB5R3, CYP2D6, CYP2D7, DENND6B, DESI1, DNAJB7, EFCAB6, EFCAB6-AS1, EP300, EP300-AS1, EPIC1, FAM118A, FBLN1, FLJ30901, GRAMD4, GTSE1, GTSE1-DT, HDAC10, IL17REL, KIAA0930, KLHDC7B, KLHDC7B-DT, L3MBTL2, L3MBTL2-AS1, LINC00207, LINC00229, LINC00898, LINC00899, LINC01310, LINC01315, LINC01589, LINC01639, LINC01644, LINC01656, LINC02939, LMF2, LOC101927551, LOC105373044, LOC105373064, LOC107181287, LOC107832855, LOC107985535, LOC108281149, LOC108348030, LOC108660404, LOC110121397, LOC110740340, LOC110740341, LOC111556137, LOC111562373, LOC111828508, LOC111828509, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004363, LOC114004364, LOC114827849, LOC116309137, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC125446237, LOC125446238, LOC125446239, LOC125446243, LOC125446244, LOC125446246, LOC125446247, LOC125446248, LOC125446250, LOC125446253, LOC125446254, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863156, LOC126863157, LOC126863158, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128772436, LOC128772437, LOC128772438, LOC284933, LOC339685, LOC90834, MAPK11, MAPK12, MAPK8IP2, MCAT, MCHR1, MEI1, MIOX, MIR12114, MIR1249, MIR1281, MIR3201, MIR33A, MIR3619, MIR3667, MIR3667HG, MIR378I, MIR4535, MIR4762, MIR4763, MIR4766, MIR6821, MIR6889, MIRLET7A3, MIRLET7B, MIRLET7BHG, MLC1, MOV10L1, MPPED1, MRTFA, MRTFA-AS1, NAGA, NCAPH2, NDUFA6, NDUFA6-DT, NFAM1, NHIP, NUP50, NUP50-DT, ODF3B, PACSIN2, PANX2, PARVB, PARVG, PHETA2, PHF21B, PHF5A, PIM3, PKDREJ, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR3H, PPARA, PPP6R2, PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, RANGAP1, RBX1, RIBC2, RNU12, RRP7A, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SELENOO, SELENOO-AS1, SEPTIN3, SERHL2, SGSM3, SHANK3, SHISA8, SHISAL1, SLC25A17, SMC1B, SMDT1, SMIM45, SNORD140, SNU13, SREBF2, SREBF2-AS1, ST13, SULT4A1, SYCE3, TAFA5, TBC1D22A, TBC1D22A-AS1, TCF20, TEF, TNFRSF13C, TNRC6B, TOB2, TRABD, TRMU, TRU-TCA2-1, TSPO, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBGCP6, TYMP, UPK3A, WBP2NL, WNT7B, XPNPEP3, XRCC6, ZBED4, ZC3H7B
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
5.
GRCh37:
Chr22:41165914-41756094
GRCh38:
Chr22:40769910-41360090
See casesUncertain significance
(Nov 30, 2010)
no assertion criteria provided
6.
GRCh37:
Chr22:41256898-41702010
GRCh38:
Chr22:40860894-41306006
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr22:41264983-41729217
GRCh38:
Chr22:40868979-41333213
Nephronophthisis-like nephropathy 1Uncertain significance
(Feb 10, 2017)
criteria provided, single submitter
8.
GRCh37:
Chr22:41488489
GRCh38:
Chr22:41092485
EP300not providedLikely benign
(Apr 29, 2020)
criteria provided, single submitter
9.
GRCh37:
Chr22:41488526
GRCh38:
Chr22:41092522
EP300, MIR1281not providedBenign
(Jun 3, 2020)
criteria provided, single submitter
10.
GRCh38:
Chr22:41092585-41117186
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyPathogenic
(Apr 1, 2005)
no assertion criteria provided
11.
GRCh37:
Chr22:41489015
GRCh38:
Chr22:41093011
EP300E3KMenke-Hennekam syndrome 2Uncertain significance
(Oct 1, 2019)
criteria provided, single submitter
12.
GRCh37:
Chr22:41489020
GRCh38:
Chr22:41093016
EP300N4Knot providedUncertain significance
(Mar 13, 2021)
criteria provided, single submitter
13.
GRCh37:
Chr22:41489020
GRCh38:
Chr22:41093016
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Jun 2, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr22:41489036
GRCh38:
Chr22:41093032
EP300P10SRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr22:41489039
GRCh38:
Chr22:41093035
EP300P11SRubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(Aug 31, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr22:41489041
GRCh38:
Chr22:41093037
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(Sep 22, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr22:41489053
GRCh38:
Chr22:41093049
EP300not providedLikely benign
(Feb 11, 2021)
criteria provided, single submitter
18.
GRCh37:
Chr22:41489055
GRCh38:
Chr22:41093051
EP300P16RRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Jun 25, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr22:41489075-41489076
GRCh38:
Chr22:41093071-41093072
EP300S24fsRubinstein-Taybi syndrome due to EP300 haploinsufficiencyPathogenic
(Sep 20, 2016)
criteria provided, single submitter
20.
GRCh37:
Chr22:41489077
GRCh38:
Chr22:41093073
EP300not providedLikely benign
(Aug 20, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr22:41489083
GRCh38:
Chr22:41093079
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Sep 23, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr22:41489114
GRCh38:
Chr22:41093110
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Sep 27, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr22:41489115
GRCh38:
Chr22:41093111
EP300not provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(Nov 2, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr22:41489119
GRCh38:
Chr22:41093115
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Sep 15, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr22:41489121
GRCh38:
Chr22:41093117
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Jul 30, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr22:41489143
GRCh38:
Chr22:41093139
EP300not providedBenign
(Sep 16, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr22:41489210
GRCh38:
Chr22:41093206
EP300not providedBenign
(Jul 27, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr22:41489362
GRCh38:
Chr22:41093358
EP300not providedBenign
(Oct 17, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr22:41512989
GRCh38:
Chr22:41116985
EP300not providedLikely benign
(Oct 17, 2018)
criteria provided, single submitter
30.
GRCh37:
Chr22:41513094
GRCh38:
Chr22:41117090
EP300not providedBenign
(Jul 17, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr22:41513175
GRCh38:
Chr22:41117171
EP300not provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, not specified
Benign
(Oct 18, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr22:41513188
GRCh38:
Chr22:41117184
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Jun 13, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr22:41513198-41513201
GRCh38:
Chr22:41117194-41117197
EP300S35fsnot provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Neurodevelopmental delay,
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer,
Menke-Hennekam syndrome 2
Pathogenic/Likely pathogenic
(Nov 29, 2021)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr22:41513199
GRCh38:
Chr22:41117195
EP300S35Anot providedUncertain significance
(Jan 23, 2017)
criteria provided, single submitter
35.
GRCh37:
Chr22:41513200
GRCh38:
Chr22:41117196
EP300S35CRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Mar 14, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr22:41513203-41513206
GRCh38:
Chr22:41117199-41117202
EP300F37fsRubinstein-Taybi syndrome due to EP300 haploinsufficiencyPathogenic
(Oct 4, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr22:41513204
GRCh38:
Chr22:41117200
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Sep 23, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr22:41513233
GRCh38:
Chr22:41117229
EP300E46Vnot providedUncertain significance
(Dec 6, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr22:41513248
GRCh38:
Chr22:41117244
EP300T51Inot providedUncertain significance
(Sep 21, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr22:41513252
GRCh38:
Chr22:41117248
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(Feb 20, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr22:41513253
GRCh38:
Chr22:41117249
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Sep 23, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr22:41513265
GRCh38:
Chr22:41117261
EP300N57Dnot provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Aug 15, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr22:41513266
GRCh38:
Chr22:41117262
EP300N57SRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Nov 1, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr22:41513271
GRCh38:
Chr22:41117267
EP300G59Rnot providedUncertain significance
(Jul 13, 2020)
criteria provided, single submitter
45.
GRCh37:
Chr22:41513290
GRCh38:
Chr22:41117286
EP300Q65Rnot providedUncertain significance
(Mar 15, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr22:41513302
GRCh38:
Chr22:41117298
EP300G69DRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Aug 26, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr22:41513310
GRCh38:
Chr22:41117306
EP300Q72KRubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Oct 26, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr22:41513327
GRCh38:
Chr22:41117323
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(May 23, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr22:41513352
GRCh38:
Chr22:41117348
EP300R86*not providedPathogenic
(Feb 19, 2019)
criteria provided, single submitter
50.
GRCh37:
Chr22:41513353
GRCh38:
Chr22:41117349
EP300R86QRubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(Jul 21, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr22:41513364-41513365
GRCh38:
Chr22:41117360-41117361
EP300not providedPathogenic
(Feb 11, 2020)
criteria provided, single submitter
52.
GRCh37:
Chr22:41513365
GRCh38:
Chr22:41117361
EP300P91fsInborn genetic diseasesPathogenic
(Sep 18, 2015)
criteria provided, single submitter
53.
GRCh37:
Chr22:41513366
GRCh38:
Chr22:41117362
EP300not providedLikely benign
(Dec 3, 2018)
criteria provided, single submitter
54.
GRCh37:
Chr22:41513367
GRCh38:
Chr22:41117363
EP300P91SRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr22:41513368
GRCh38:
Chr22:41117364
EP300P91RInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr22:41513380
GRCh38:
Chr22:41117376
EP300M95TInborn genetic diseasesUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr22:41513397
GRCh38:
Chr22:41117393
EP300G101SRubinstein-Taybi syndrome due to EP300 haploinsufficiency, not providedUncertain significance
(Feb 9, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr22:41513398
GRCh38:
Chr22:41117394
EP300G101DRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
59.
GRCh37:
Chr22:41513403
GRCh38:
Chr22:41117399
EP300V103Inot provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Aug 28, 2021)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr22:41513412
GRCh38:
Chr22:41117408
EP300S106Gnot provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr22:41513415
GRCh38:
Chr22:41117411
EP300Q107*not providedPathogenic
(Mar 28, 2017)
criteria provided, single submitter
62.
GRCh37:
Chr22:41513416
GRCh38:
Chr22:41117412
EP300Q107RRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Jun 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr22:41513420
GRCh38:
Chr22:41117416
EP300not specified, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, not provided
Benign/Likely benign
(Aug 24, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr22:41513428
GRCh38:
Chr22:41117424
EP300S111NRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Apr 2, 2020)
criteria provided, single submitter
65.
GRCh37:
Chr22:41513434
GRCh38:
Chr22:41117430
EP300P113LRubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Feb 25, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr22:41513455
GRCh38:
Chr22:41117451
EP300S120NRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr22:41513459
GRCh38:
Chr22:41117455
EP300M121IRubinstein-Taybi syndromeUncertain significance
(Jan 1, 2019)
criteria provided, single submitter
68.
GRCh37:
Chr22:41513461
GRCh38:
Chr22:41117457
EP300V122DInborn genetic diseasesUncertain significance
(Aug 8, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr22:41513472
GRCh38:
Chr22:41117468
EP300M126Vnot provided, Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign/Likely benign
(Oct 29, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr22:41513529
GRCh38:
Chr22:41117525
EP300Q145Enot providedUncertain significance
(Jun 20, 2019)
criteria provided, single submitter
71.
GRCh37:
Chr22:41513538
GRCh38:
Chr22:41117534
EP300T148ARubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(May 5, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr22:41513539
GRCh38:
Chr22:41117535
EP300T148MInborn genetic diseasesLikely benign
(Sep 15, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr22:41513540
GRCh38:
Chr22:41117536
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer, Rubinstein-Taybi syndrome due to CREBBP mutations
Likely benign
(Dec 31, 2019)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr22:41513544
GRCh38:
Chr22:41117540
EP300S150PInborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Jan 15, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr22:41513547
GRCh38:
Chr22:41117543
EP300T151Anot providedLikely benign
(May 21, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr22:41513550
GRCh38:
Chr22:41117546
EP300G152SInborn genetic diseases, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Menke-Hennekam syndrome 2,
Rubinstein-Taybi syndrome due to CREBBP mutations, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Colorectal cancer
Conflicting interpretations of pathogenicity
(Oct 27, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr22:41513553
GRCh38:
Chr22:41117549
EP300M153VRubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Oct 9, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr22:41513554
GRCh38:
Chr22:41117550
EP300M153TRubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Mar 15, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr22:41513565
GRCh38:
Chr22:41117561
EP300P157Tnot providedLikely benign
(Oct 30, 2020)
criteria provided, single submitter
80.
GRCh37:
Chr22:41513567
GRCh38:
Chr22:41117563
EP300not providedUncertain significance
(May 14, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr22:41513583
GRCh38:
Chr22:41117579
EP300M163VInborn genetic diseasesUncertain significance
(Oct 12, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr22:41513587-41513590
GRCh38:
Chr22:41117583-41117586
EP300M165fsRubinstein-Taybi syndrome due to EP300 haploinsufficiencyPathogenic
(Nov 5, 2019)
no assertion criteria provided
83.
GRCh37:
Chr22:41513590
GRCh38:
Chr22:41117586
EP300M165TInborn genetic diseasesUncertain significance
(Jul 13, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr22:41513591
GRCh38:
Chr22:41117587
EP300M165Inot providedUncertain significance
(Jun 7, 2017)
criteria provided, single submitter
85.
GRCh37:
Chr22:41513594
GRCh38:
Chr22:41117590
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr22:41513609
GRCh38:
Chr22:41117605
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, not providedLikely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr22:41513617
GRCh38:
Chr22:41117613
EP300N174SRubinstein-Taybi syndrome due to EP300 haploinsufficiencyUncertain significance
(Sep 6, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr22:41513628
GRCh38:
Chr22:41117624
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyBenign
(Jun 25, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr22:41513632
GRCh38:
Chr22:41117628
EP300A179Gnot providedUncertain significance
(Dec 1, 2016)
criteria provided, single submitter
90.
GRCh37:
Chr22:41513641
GRCh38:
Chr22:41117637
EP300N182Snot providedLikely benign
(Jun 24, 2020)
criteria provided, single submitter
91.
GRCh37:
Chr22:41513642
GRCh38:
Chr22:41117638
EP300Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr22:41513665
GRCh38:
Chr22:41117661
EP300Q190Rnot providedUncertain significance
(Jul 25, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr22:41513670
GRCh38:
Chr22:41117666
EP300M192Vnot providedUncertain significance
(Jan 28, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr22:41513670
GRCh38:
Chr22:41117666
EP300M192Lnot providedUncertain significance
(Sep 6, 2016)
criteria provided, single submitter
95.
GRCh37:
Chr22:41513675
GRCh38:
Chr22:41117671
EP300not providedBenign
(Feb 27, 2020)
criteria provided, single submitter
96.
GRCh37:
Chr22:41513676-41513683
GRCh38:
Chr22:41117672-41117679
EP300G194fsInborn genetic diseasesPathogenic
(Mar 15, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr22:41513680
GRCh38:
Chr22:41117676
EP300S195*Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyPathogenic
(Jan 14, 2019)
criteria provided, single submitter
98.
GRCh37:
Chr22:41513682
GRCh38:
Chr22:41117678
EP300I196VRubinstein-Taybi syndrome due to EP300 haploinsufficiencyConflicting interpretations of pathogenicity
(Apr 21, 2020)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr22:41513694
GRCh38:
Chr22:41117690
EP300R200Gnot providedUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr22:41513694
GRCh38:
Chr22:41117690
EP300R200*Rubinstein-Taybi syndrome due to EP300 haploinsufficiencyLikely pathogenic
(Jun 2, 2022)
criteria provided, single submitter
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