| - 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 cases | Pathogenic (Sep 18, 2013) | no assertion criteria provided |
| - 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 cases | Pathogenic (Jul 30, 2010) | no assertion criteria provided |
| - 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 cases | Pathogenic (Nov 4, 2011) | no assertion criteria provided |
| - 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 cases | Pathogenic (Feb 14, 2012) | no assertion criteria provided |
| - GRCh37:
- Chr22:35729986-39296182
- GRCh38:
- Chr22:35333993-38900177
| ANKRD54, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, BAIAP2L2, C1QTNF6, C22orf23, CACNG2, CACNG2-DT, CARD10, CBX6, CBY1, CDC42EP1, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, DNAL4, EIF3D, EIF3L, ELFN2, FAM227A, FOXRED2, GALR3, GCAT, GGA1, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, LL22NC01-81G9.3, LOC100506271, LOC102724378, LOC105373031, LOC110120880, LOC110120882, LOC110120883, LOC110120893, LOC111188158, LOC111188159, LOC111519898, LOC111556159, LOC112695089, LOC112695090, LOC112695092, LOC114004362, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC121853041, LOC121853042, LOC121853043, LOC125446226, LOC125446227, LOC125446228, LOC125446229, LOC125446230, LOC125446231, LOC125446232, LOC125446233, LOC126863134, LOC126863135, LOC126863136, LOC126863137, LOC126863138, LOC126863139, LOC126863140, LOC126863141, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC128706667, LOC128772428, LOC128772429, LOC128772430, LOC128772431, LOC128772432, LOC128772433, LOC128772434, LOC128772435, LOC284912, MAFF, MB, MCM5, MFNG, MICALL1, MIR3909, MIR4534, MIR6069, MIR658, MIR659, MIR6819, MIR6820, MPST, MYH9, MYH9-DT, NCF4, NCF4-AS1, NOL12, NPTXR, PDXP, PDXP-DT, PICK1, PLA2G6, POLR2F, PVALB, RAC2, RASD2, RBFOX2, SH3BP1, SLC16A8, SNORA92, SOX10, SSTR3, SUN2, TEX33, TMEM184B, TMPRSS6, TOM1, TOMM22, TPTEP2-CSNK1E, TRIOBP, TST, TXN2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36140301
- GRCh38:
- Chr22:35744254
| RBFOX2 | | not provided | Likely benign (Dec 20, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36149394-36990020
- GRCh38:
- Chr22:35753347-36593973
| APOL1, APOL2, APOL3, APOL4, CACNG2, EIF3D, FOXRED2, LOC112695089, LOC121853042, LOC125446226, LOC125446227, LOC125446228, LOC126863135, LOC126863136, LOC126863137, LOC126863138, MIR6819, MYH9, MYH9-DT, RBFOX2, TXN2 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36152176
- GRCh38:
- Chr22:35756129
| RBFOX2 | | not provided | Likely benign (Mar 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36155928
- GRCh38:
- Chr22:35759881
| RBFOX2 | | not provided | Likely benign (Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36155936
- GRCh38:
- Chr22:35759889
| RBFOX2 | G290R, G295S, G296R, G299R, G299S, G300S, G317R, G317S, G321R, G321S, G334R, G334S, G364S, G365R, G365S, G366R, G366S, G369S, G370S | not specified | Uncertain significance (May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36155978
- GRCh38:
- Chr22:35759931
| RBFOX2 | A282S, A286S, A307S, A350S, A352S, A356S, A276S, A320S, A351S, A281S, A303S, A355S, A285S | Inborn genetic diseases | Uncertain significance (Nov 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36156050
- GRCh38:
- Chr22:35760003
| RBFOX2 | P283S, P261S, P279S, P296S, P328S, P332S, P252S, P326S, P257S, P258S, P262S, P327S, P331S | Inborn genetic diseases | Uncertain significance (May 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36157294
- GRCh38:
- Chr22:35761247
| RBFOX2 | P236S, P307S, P258S, P306S, P227S, P237S, P275S, P305S | not provided | Uncertain significance (Nov 18, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36157298-36157308
- GRCh38:
- Chr22:35761251-35761261
| RBFOX2 | N301fs, N270fs, N300fs, N302fs, N231fs, N222fs, N232fs, N253fs | not provided | Uncertain significance (Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36157319
- GRCh38:
- Chr22:35761272
| RBFOX2 | | not provided | Benign (May 31, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36157351
- GRCh38:
- Chr22:35761304
| RBFOX2 | | not provided | Benign (Apr 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36161451
- GRCh38:
- Chr22:35765404
| RBFOX2 | | not provided | Likely benign (May 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36161458
- GRCh38:
- Chr22:35765411
| RBFOX2 | | not provided | Benign (Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36161499
- GRCh38:
- Chr22:35765452
| RBFOX2 | N192S, N183S, N231S, N262S, N193S, N214S, N261S, N263S | Inborn genetic diseases | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36164334
- GRCh38:
- Chr22:35768287
| RBFOX2 | | not provided | Likely benign (Apr 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36164375
- GRCh38:
- Chr22:35768328
| RBFOX2 | E227Q, E228Q, E158Q, E159Q, E180Q, E229Q | not provided | Uncertain significance (Dec 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36164376
- GRCh38:
- Chr22:35768329
| RBFOX2 | | not provided | Likely benign (Aug 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36174093
- GRCh38:
- Chr22:35778046
| RBFOX2 | | not provided | Likely benign (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36177732-36177733
- GRCh38:
- Chr22:35781685-35781686
| RBFOX2 | S126fs, S174fs, S175fs, S127fs, S104fs, S105fs | Inborn genetic diseases | Pathogenic (Jun 5, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36177784
- GRCh38:
- Chr22:35781737
| RBFOX2 | G157C, G158C, G87C, G110C, G88C, G109C | Inborn genetic diseases | Uncertain significance (Dec 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205807-36205811
- GRCh38:
- Chr22:35809760-35809764
| RBFOX2 | | not provided | Benign (Apr 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205842
- GRCh38:
- Chr22:35809795
| RBFOX2 | | not provided | Benign (Oct 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205886
- GRCh38:
- Chr22:35809839
| RBFOX2 | T135A, T65A, T87A | not provided | Uncertain significance (Feb 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205892
- GRCh38:
- Chr22:35809845
| RBFOX2 | G133R, G63R, G85R | Inborn genetic diseases | Uncertain significance (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205937
- GRCh38:
- Chr22:35809890
| RBFOX2 | Q118*, Q48*, Q70* | Hypoplastic left heart syndrome | Uncertain significance (Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205944
- GRCh38:
- Chr22:35809897
| RBFOX2 | | not provided | Benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205985
- GRCh38:
- Chr22:35809938
| RBFOX2 | P54S, P102S, P32S | not provided | Uncertain significance (Oct 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36205995
- GRCh38:
- Chr22:35809948
| RBFOX2 | I50M, I98M, I28M | Inborn genetic diseases | Uncertain significance (Dec 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36206049
- GRCh38:
- Chr22:35810002
| RBFOX2 | | not provided | Likely benign (Feb 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36289475-36327099
- GRCh38:
- Chr22:35893428-35931051
| RBFOX2 | | See cases | Uncertain significance (Apr 30, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr22:36334928
- GRCh38:
- Chr22:35938880
| RBFOX2 | | not provided | Benign (Mar 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36424375
- GRCh38:
- Chr22:36028327
| RBFOX2 | | not provided | Likely benign (Aug 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36424378
- GRCh38:
- Chr22:36028330
| RBFOX2 | | not provided | Likely benign (Mar 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36424392
- GRCh38:
- Chr22:36028344
| RBFOX2 | | not provided | Benign (Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36424420
- GRCh38:
- Chr22:36028372
| RBFOX2 | | not provided | Likely benign (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36424445
- GRCh38:
- Chr22:36028397
| RBFOX2 | P10Q | not provided | Uncertain significance (May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36424450
- GRCh38:
- Chr22:36028402
| RBFOX2 | H8Q | not provided | Benign (Nov 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36152132-36156099
| RBFOX2 | | not provided | Uncertain significance (Aug 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:35776672-42486826
| LGALS1, MFNG, MGAT3, MAFF, MB, MCHR1, MCM5, LGALS2, MEI1, ACO2, ADSL, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ATF4, BAIAP2L2, C1QTNF6, C22orf23, CACNA1I, CACNG2, CARD10, CBX6, CBX7, CBY1, CCDC134, CDC42EP1, CENPM, CHADL, CSDC2, CSF2RB, CSNK1E, CYTH4, DDX17, DESI1, DMC1, DNAJB7, DNAL4, EIF3D, EIF3L, ELFN2, ENTHD1, EP300, FAM227A, FAM83F, FOXRED2, GALR3, GCAT, GGA1, GRAP2, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, L3MBTL2, L3MBTL2-AS1, MICALL1, MIEF1, MIR33A, MIR659, MPST, MRTFA, MYH9, NAGA, NCF4, NDUFA6, NOL12, NPTXR, PDGFB, PDXP, PHETA2, PHF5A, PICK1, PLA2G6, PMM1, POLR2F, POLR3H, PVALB, RAC2, RANGAP1, RASD2, RBFOX2, RBX1, RPL3, RPS19BP1, SEPTIN3, SGSM3, SH3BP1, SHISA8, SLC16A8, SLC25A17, SMDT1, SNORD139, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SSTR3, ST13, SUN2, SYNGR1, TAB1, TEF, TEX33, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOMM22, TRIOBP, TST, TXN2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B | | Adenylosuccinate lyase deficiency | Uncertain significance (Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36296883-36631953
| APOL2, APOL3, APOL4, RBFOX2 | | not provided | Uncertain significance (Apr 1, 2021) | no assertion criteria provided |
| - GRCh37:
- Chr22:36319058-36403971
| RBFOX2 | | not provided | Uncertain significance (Apr 1, 2021) | no assertion criteria provided |
| - 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 cases | Pathogenic (Jul 30, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr22:36259882-36540046
| APOL3, RBFOX2 | | not provided | Uncertain significance (May 28, 2019) | no assertion criteria provided |
| - 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 provided | Pathogenic (Jul 24, 2018) | no assertion criteria provided |
| - GRCh37:
- Chr22:36202468-36292702
| RBFOX2 | | not provided | Uncertain significance (Nov 28, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr22:36390903-36480099
| RBFOX2 | | not provided | Uncertain significance (May 3, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr22:36395153-36480099
| RBFOX2 | | not provided | Uncertain significance (Oct 17, 2017) | no assertion criteria provided |
| - GRCh37:
- Chr22:36395153-36480099
| RBFOX2 | | not provided | Uncertain significance (Jun 26, 2018) | no assertion criteria provided |
| - 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 provided | Pathogenic (Oct 31, 2017) | no assertion criteria provided |
| - 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 provided | Pathogenic (Oct 31, 2014) | no assertion criteria provided |
| - 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 provided | Pathogenic (Jan 5, 2017) | no assertion criteria provided |
| - 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 provided | Pathogenic (Jan 1, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr22:35674826-39466442
| |