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Items: 66

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:
Chr22:21261514-37583387
GRCh38:
Chr22:20907226-37187347
ADORA2A, ADORA2A-AS1, AIFM3, AP1B1, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ASCC2, ASPHD2, BCR, BPIFC, C1QTNF6, C22orf15, C22orf31, C22orf42, CABIN1, CABP7, CACNG2, CACNG2-DT, CASTOR1, CCDC116, CCDC117, CCDC157, CHCHD10, CHEK2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, DDT, DDTL, DEPDC5, DERL3, DRG1, DRICH1, DUSP18, EIF3D, EIF4ENIF1, EMID1, EWSR1, FAM230B, FAM230H, FAM230I, FAM246A, FBXO7, FOXRED2, GAL3ST1, GAS2L1, GGT1, GGT2, GGT5, GGTLC2, GNAZ, GRK3, GRK3-AS1, GSTT2, GSTT2B, GSTT4, GUCD1, HIC2, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, 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, IL2RB, INPP5J, ISX, KCTD17, KIAA1656, KIAA1671, KIAA1671-AS1, KREMEN1, LARGE-AS1, LARGE1, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC01399, LINC01422, LINC01521, LINC01637, LINC01638, LINC01640, LINC01643, LINC01651, LINC01659, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LL22NC01-81G9.3, LL22NC03-63E9.3, LOC105372977, LOC105372990, LOC106780824, LOC107275221, LOC107275224, LOC107275225, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985544, LOC108178988, LOC108353816, LOC108491832, LOC108491837, LOC110091768, LOC110121337, LOC110121419, LOC110121474, LOC110121499, LOC111188158, LOC111188159, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121627939, LOC121627940, LOC121853035, LOC121853036, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC121853041, LOC121853042, 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, 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, LOC284898, LOC284912, LOC339666, LRRC74B, LRRC75B, LZTR1, MAPK1, MB, MCM5, MIAT, MIATNB, MIF, MIF-AS1, MIR130B, MIR301B, MIR3199-1, MIR3199-2, MIR3200, MIR3653, MIR3909, MIR3928, MIR4764, MIR548J, MIR5571, MIR5739, MIR6069, MIR649, MIR650, MIR6817, MIR6818, MIR6819, MIR7109, MMP11, MN1, MORC2, MORC2-AS1, MPST, MTFP1, MTMR3, MYH9, MYH9-DT, MYO18B, MYO18B-AS1, NCF4, NCF4-AS1, NEFH, NF2, NIPSNAP1, NOA3, OSBP2, OSM, P2RX6, PATZ1, PCAT14, PES1, PIK3IP1, PIK3IP1-DT, PISD, PITPNB, PIWIL3, PLA2G3, PPIL2, PPM1F, PPM1F-AS1, PRAME, PRR14L, PVALB, RAB36, RASD2, RASL10A, RBFOX2, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIMBP3B, RIMBP3C, RNF185, RNF215, RSPH14, RTCB, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SMARCB1, SMTN, SNORA50B, SNORD125, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SRRD, SUSD2, SYN3, SYN3-AS1, TBC1D10A, TCN2, TEX33, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TIMP3, TMEM191C, TMPRSS6, TOM1, TOP3B, TPST2, TST, TTC28, TTC28-AS1, TUG1, TXN2, UBE2L3, UPB1, UQCR10, VPREB1, VPREB3, XBP1, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Nov 4, 2011)
no assertion criteria provided
4.
GRCh37:
Chr22:23621418-36643415
GRCh38:
Chr22:23279231-36247369
ADORA2A, ADORA2A-AS1, AP1B1, APOL2, APOL3, APOL4, APOL5, APOL6, ASCC2, ASPHD2, BCR, BPIFC, C22orf15, C22orf31, C22orf42, CABIN1, CABP7, CASTOR1, CCDC117, CCDC157, CHCHD10, CHEK2, CRYBA4, CRYBB1, CRYBB2, CRYBB3, DDT, DDTL, DEPDC5, DERL3, DRG1, DRICH1, DUSP18, EIF4ENIF1, EMID1, EWSR1, FAM230I, FBXO7, GAL3ST1, GAS2L1, GGT1, GGT5, GRK3, GRK3-AS1, GSTT2, GSTT2B, GSTT4, GUCD1, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, IGLL1, INPP5J, ISX, KIAA1656, KIAA1671, KIAA1671-AS1, KREMEN1, LARGE-AS1, LARGE1, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC01399, LINC01422, LINC01521, LINC01638, LINC01640, LINC01643, LINC01659, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LOC105372977, LOC105372990, LOC106780824, LOC107275221, LOC107275224, LOC107275225, LOC107963947, LOC107963948, LOC107963955, LOC107966125, LOC107985544, LOC108178988, LOC108353816, LOC110091768, LOC110121337, LOC110121419, LOC110121499, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC116309128, LOC116309129, LOC116309130, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121627939, LOC121627940, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC121853041, LOC121853042, 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, 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, LOC284898, LOC284912, LOC339666, LRRC75B, MB, MCM5, MIAT, MIATNB, MIF, MIF-AS1, MIR3199-1, MIR3199-2, MIR3200, MIR3653, MIR3909, MIR3928, MIR4764, MIR548J, MIR5739, MIR6069, MIR6817, MIR6818, MIR7109, MMP11, MN1, MORC2, MORC2-AS1, MTFP1, MTMR3, MYO18B, MYO18B-AS1, NEFH, NF2, NIPSNAP1, NOA3, OSBP2, OSM, PATZ1, PCAT14, PES1, PIK3IP1, PIK3IP1-DT, PISD, PITPNB, PIWIL3, PLA2G3, PRR14L, RASD2, RASL10A, RBFOX2, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RNF185, RNF215, RTCB, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SMARCB1, SMTN, SNORA50B, SNORD125, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SRRD, SUSD2, SYN3, SYN3-AS1, TBC1D10A, TCN2, TFIP11, TFIP11-DT, THOC5, TIMP3, TOM1, TPST2, TTC28, TTC28-AS1, TUG1, UPB1, UQCR10, VPREB3, XBP1, YWHAH, YWHAH-AS1, ZMAT5, ZNF70, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Feb 14, 2012)
no assertion criteria provided
5.
GRCh37:
Chr22:35729986-39296182
GRCh38:
Chr22:35333993-38900177
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr22:36140301
GRCh38:
Chr22:35744254
RBFOX2not providedLikely benign
(Dec 20, 2018)
criteria provided, single submitter
7.
GRCh37:
Chr22:36149394-36990020
GRCh38:
Chr22:35753347-36593973
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr22:36152176
GRCh38:
Chr22:35756129
RBFOX2not providedLikely benign
(Mar 14, 2021)
criteria provided, single submitter
9.
GRCh37:
Chr22:36155928
GRCh38:
Chr22:35759881
RBFOX2not providedLikely benign
(Jul 12, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr22:36155936
GRCh38:
Chr22:35759889
RBFOX2G290R, G295S, G296R, G299R, G299S, G300S, G317R, G317S, G321R, G321S, G334R, G334S, G364S, G365R, G365S, G366R, G366S, G369S, G370Snot specifiedUncertain significance
(May 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr22:36155978
GRCh38:
Chr22:35759931
RBFOX2A282S, A286S, A307S, A350S, A352S, A356S, A276S, A320S, A351S, A281S, A303S, A355S, A285SInborn genetic diseasesUncertain significance
(Nov 7, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr22:36156050
GRCh38:
Chr22:35760003
RBFOX2P283S, P261S, P279S, P296S, P328S, P332S, P252S, P326S, P257S, P258S, P262S, P327S, P331SInborn genetic diseasesUncertain significance
(May 11, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr22:36157294
GRCh38:
Chr22:35761247
RBFOX2P236S, P307S, P258S, P306S, P227S, P237S, P275S, P305Snot providedUncertain significance
(Nov 18, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr22:36157298-36157308
GRCh38:
Chr22:35761251-35761261
RBFOX2N301fs, N270fs, N300fs, N302fs, N231fs, N222fs, N232fs, N253fsnot providedUncertain significance
(Mar 20, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr22:36157319
GRCh38:
Chr22:35761272
RBFOX2not providedBenign
(May 31, 2021)
criteria provided, single submitter
16.
GRCh37:
Chr22:36157351
GRCh38:
Chr22:35761304
RBFOX2not providedBenign
(Apr 7, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr22:36161451
GRCh38:
Chr22:35765404
RBFOX2not providedLikely benign
(May 28, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr22:36161458
GRCh38:
Chr22:35765411
RBFOX2not providedBenign
(Aug 31, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr22:36161499
GRCh38:
Chr22:35765452
RBFOX2N192S, N183S, N231S, N262S, N193S, N214S, N261S, N263SInborn genetic diseasesUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr22:36164334
GRCh38:
Chr22:35768287
RBFOX2not providedLikely benign
(Apr 28, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr22:36164375
GRCh38:
Chr22:35768328
RBFOX2E227Q, E228Q, E158Q, E159Q, E180Q, E229Qnot providedUncertain significance
(Dec 28, 2021)
criteria provided, single submitter
22.
GRCh37:
Chr22:36164376
GRCh38:
Chr22:35768329
RBFOX2not providedLikely benign
(Aug 3, 2021)
criteria provided, single submitter
23.
GRCh37:
Chr22:36174093
GRCh38:
Chr22:35778046
RBFOX2not providedLikely benign
(Sep 22, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr22:36177732-36177733
GRCh38:
Chr22:35781685-35781686
RBFOX2S126fs, S174fs, S175fs, S127fs, S104fs, S105fsInborn genetic diseasesPathogenic
(Jun 5, 2017)
criteria provided, single submitter
25.
GRCh37:
Chr22:36177784
GRCh38:
Chr22:35781737
RBFOX2G157C, G158C, G87C, G110C, G88C, G109CInborn genetic diseasesUncertain significance
(Dec 27, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr22:36205807-36205811
GRCh38:
Chr22:35809760-35809764
RBFOX2not providedBenign
(Apr 27, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr22:36205842
GRCh38:
Chr22:35809795
RBFOX2not providedBenign
(Oct 20, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr22:36205886
GRCh38:
Chr22:35809839
RBFOX2T135A, T65A, T87Anot providedUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr22:36205892
GRCh38:
Chr22:35809845
RBFOX2G133R, G63R, G85RInborn genetic diseasesUncertain significance
(Sep 15, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr22:36205937
GRCh38:
Chr22:35809890
RBFOX2Q118*, Q48*, Q70*Hypoplastic left heart syndromeUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr22:36205944
GRCh38:
Chr22:35809897
RBFOX2not providedBenign
(Mar 29, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr22:36205985
GRCh38:
Chr22:35809938
RBFOX2P54S, P102S, P32Snot providedUncertain significance
(Oct 20, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr22:36205995
GRCh38:
Chr22:35809948
RBFOX2I50M, I98M, I28MInborn genetic diseasesUncertain significance
(Dec 19, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr22:36206049
GRCh38:
Chr22:35810002
RBFOX2not providedLikely benign
(Feb 8, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr22:36289475-36327099
GRCh38:
Chr22:35893428-35931051
RBFOX2See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
36.
GRCh37:
Chr22:36334928
GRCh38:
Chr22:35938880
RBFOX2not providedBenign
(Mar 29, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr22:36424375
GRCh38:
Chr22:36028327
RBFOX2not providedLikely benign
(Aug 9, 2018)
criteria provided, single submitter
38.
GRCh37:
Chr22:36424378
GRCh38:
Chr22:36028330
RBFOX2not providedLikely benign
(Mar 12, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr22:36424392
GRCh38:
Chr22:36028344
RBFOX2not providedBenign
(Aug 22, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr22:36424420
GRCh38:
Chr22:36028372
RBFOX2not providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr22:36424445
GRCh38:
Chr22:36028397
RBFOX2P10Qnot providedUncertain significance
(May 21, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr22:36424450
GRCh38:
Chr22:36028402
RBFOX2H8Qnot providedBenign
(Nov 4, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr22:36152132-36156099
RBFOX2not providedUncertain significance
(Aug 3, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr22:35776672-42486826
Adenylosuccinate lyase deficiencyUncertain significance
(Feb 20, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr22:36296883-36631953
APOL2, APOL3, APOL4, RBFOX2not providedUncertain significance
(Apr 1, 2021)
no assertion criteria provided
46.
GRCh37:
Chr22:36319058-36403971
RBFOX2not providedUncertain significance
(Apr 1, 2021)
no assertion criteria provided
47.
GRCh37:
Chr22:16197005-51224252
ASPHD2, ATF4, ATP5MGL, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCT8L2, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR2, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GTPBP1, GTSE1, GUCD1, H1-0, HDAC10, HDHD5, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HPS4, HSCB, IFT27, IGLC1, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIMK2, LMF2, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MIAT, MICAL3, MICALL1, MIEF1, MIF, MIOX, MIR130B, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NF2, NFAM1, NIPSNAP1, NOL12, NPTXR, NUP50, ODF3B, OR11H1, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, POTEH, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RABL2B, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMDT1, SMTN, SNAP29, SNORD139, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TRMU, TSPO, TSSK2, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XKR3, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3
See casesPathogenic
(Jul 30, 2020)
no assertion criteria provided
48.
GRCh37:
Chr22:36259882-36540046
APOL3, RBFOX2not providedUncertain significance
(May 28, 2019)
no assertion criteria provided
49.
GRCh37:
Chr22:30654764-51197838
A4GALT, ACO2, ACR, ADM2, ADSL, ALG12, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ATF4, ATP5MGL, ATXN10, BAIAP2L2, BIK, BPIFC, BRD1, C1QTNF6, C22orf23, C22orf42, CACNA1I, CACNG2, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC134, CCDC157, CDC42EP1, CDPF1, CELSR1, CENPM, CERK, CHADL, CHKB, CPT1B, CRELD2, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYTH4, DDX17, DENND6B, DEPDC5, DESI1, DMC1, DNAJB7, DNAL4, DRG1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, ENTHD1, EP300, FAM118A, FAM227A, FAM83F, FBLN1, FBXO7, FOXRED2, GAL3ST1, GALR3, GCAT, GGA1, GRAMD4, GRAP2, GTPBP1, GTSE1, H1-0, HDAC10, HMGXB4, HMOX1, IFT27, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KLHDC7B, L3MBTL2, L3MBTL2-AS1, LARGE1, LGALS1, LGALS2, LIMK2, LMF2, MAFF, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MEI1, MFNG, MGAT3, MICALL1, MIEF1, MIOX, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MORC2, MOV10L1, MPPED1, MPST, MRTFA, MTFP1, MYH9, NAGA, NCAPH2, NCF4, NDUFA6, NFAM1, NOL12, NPTXR, NUP50, ODF3B, OSBP2, OSM, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PHETA2, PHF21B, PHF5A, PICK1, PIK3IP1, PIM3, PISD, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPP6R2, PRR14L, PRR34, PRR5, PRR5-ARHGAP8, PVALB, RAC2, RANGAP1, RASD2, RBFOX2, RBX1, RFPL2, RFPL3, RFPL3S, RIBC2, RNF185, RNF215, RPL3, RPS19BP1, RRP7A, RTCB, RTL6, SAMM50, SBF1, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SERHL2, SF3A1, SFI1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A17, SLC35E4, SLC5A1, SLC5A4, SMC1B, SMDT1, SMTN, SNORD139, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SSTR3, ST13, SULT4A1, SUN2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TBC1D10A, TBC1D22A, TCF20, TCN2, TEF, TEX33, TIMP3, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TRABD, TRIOBP, TRMU, TSPO, TST, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TUG1, TXN2, TYMP, UPK3A, WBP2NL, WNT7B, XPNPEP3, XRCC6, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B
not providedPathogenic
(Jul 24, 2018)
no assertion criteria provided
50.
GRCh37:
Chr22:36202468-36292702
RBFOX2not providedUncertain significance
(Nov 28, 2017)
no assertion criteria provided
51.
GRCh37:
Chr22:36390903-36480099
RBFOX2not providedUncertain significance
(May 3, 2017)
no assertion criteria provided
52.
GRCh37:
Chr22:36395153-36480099
RBFOX2not providedUncertain significance
(Oct 17, 2017)
no assertion criteria provided
53.
GRCh37:
Chr22:36395153-36480099
RBFOX2not providedUncertain significance
(Jun 26, 2018)
no assertion criteria provided
54.
GRCh37:
Chr22:16888899-51197838
A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, 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, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCT8L2, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR2, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GTPBP1, GTSE1, GUCD1, H1-0, HDAC10, HDHD5, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HPS4, HSCB, IFT27, IGLC1, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIMK2, LMF2, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MIAT, MICAL3, MICALL1, MIEF1, MIF, MIOX, MIR130B, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NF2, NFAM1, NIPSNAP1, NOL12, NPTXR, NUP50, ODF3B, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, 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, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMDT1, SMTN, SNAP29, SNORD139, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TRMU, TSPO, TSSK2, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XKR3, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3
not providedPathogenic
(Oct 31, 2017)
no assertion criteria provided
55.
GRCh37:
Chr22:16114244-51211392
A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, 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, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCT8L2, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR2, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GTPBP1, GTSE1, GUCD1, H1-0, HDAC10, HDHD5, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HPS4, HSCB, IFT27, IGLC1, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIMK2, LMF2, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MIAT, MICAL3, MICALL1, MIEF1, MIF, MIOX, MIR130B, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NF2, NFAM1, NIPSNAP1, NOL12, NPTXR, NUP50, ODF3B, OR11H1, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, POTEH, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RABL2B, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMDT1, SMTN, SNAP29, SNORD139, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TRMU, TSPO, TSSK2, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XKR3, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
56.
GRCh37:
Chr22:16114244-51195728
MIEF1, MIF, MIOX, MIR130B, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NF2, NFAM1, NIPSNAP1, NOL12, NPTXR, NUP50, ODF3B, OR11H1, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, POTEH, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, 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, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMDT1, SMTN, SNAP29, SNORD139, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TRMU, TSPO, TSSK2, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XKR3, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, 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, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCT8L2, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR2, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GSC2, GSTT1, GSTT2, GSTT2B, GTPBP1, GTSE1, GUCD1, H1-0, HDAC10, HDHD5, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HPS4, HSCB, IFT27, IGLC1, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIMK2, LMF2, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MIAT, MICAL3, MICALL1
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
57.
GRCh37:
Chr22:16054667-51243435
ADSL, AIFM3, ALG12, CDPF1, CECR2, CECR3, GP1BB, GTPBP1, GRAP2, GRK3, GRAMD4, GSC2, GSTT1, GSTT2, GSTT2B, CELSR1, CSDC2, CSF2RB, CSNK1E, DENND6B, DEPDC5, CRELD2, APOBEC3H, APOL1, APOL2, APOL3, APOBEC3A, CYB5R3, CENPM, CERK, CHADL, CHCHD10, ANKRD54, AP1B1, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, 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, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCT8L2, CDC42EP1, CDC45, CHEK2, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CYP2D6, CYTH4, DDT, DDTL, DDX17, DERL3, DESI1, DGCR2, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GTSE1, GUCD1, H1-0, HDAC10, HDHD5, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HPS4, HSCB, IFT27, IGLC1, IGLL1, IGLL5, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1671, KLHDC7B, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIMK2, LMF2, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MIAT, MICAL3, MICALL1, MIEF1, MIF, MIOX, MIR130B, MIR33A, MIR659, MIRLET7A3, MIRLET7B, MLC1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NF2, NFAM1, NIPSNAP1, NOL12, NPTXR, NUP50, ODF3B, OR11H1, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PDGFB, PDXP, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, POTEH, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L, PRR34, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RABL2B, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC7A4, SMARCB1, SMC1B, SMDT1, SMTN, SNAP29, SNORD139, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBX1, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOM1, TOMM22, TOP3B, TPST2, TRABD, TRIOBP, TRMT2A, TRMU, TSPO, TSSK2, TST, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XKR3, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
58.
GRCh37:
Chr22:35674826-39466442