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Items: 1 to 100 of 653

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:17019015-20718227
GRCh38:
Chr22:16538125-20363937
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh37:
Chr22:17397498-20708934
GRCh38:
Chr22:16916608-20354644
See casesPathogenic
(Feb 28, 2010)
no assertion criteria provided
3.
GRCh37:
Chr22:17397498-20708934
GRCh38:
Chr22:16916608-20354644
See casesPathogenic
(Jan 14, 2011)
no assertion criteria provided
4.
GRCh37:
Chr22:17397498-20659606
GRCh38:
Chr22:16916608-20343532
See casesPathogenic
(May 27, 2010)
no assertion criteria provided
5.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
LOC112695093, LOC114004364, LOC114827849, LOC121627932, LOC121627933, LOC121627954, LOC121627955, LOC125424380, LOC125424381, LOC125424397, LOC125424398, LOC125446214, LOC125446215, LOC125446230, LOC125446231, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC126863102, LOC126863103, LOC126863116, LOC126863117, LOC126863129, LOC126863140, LOC126863141, LOC126863154, LOC126863155, LOC126863156, LOC126863169, LOC126863170, LOC126863185, LOC126863186, LOC126863187, LOC284933, LOC339666, MED15, MEI1, MFNG, MIR1281, MIR1286, MIR3667, MIR3667HG, MIR648, MIR649, MIRLET7B, MIRLET7BHG, MIURF, MTMR3, MYH9, NPTXR, PDXP-DT, PES1, PKDREJ, PRAME, PRODH, RFPL1, RFPL1S, RPL3, RPS19BP1, RRP7A, SEC14L2, SEC14L3, SLC25A18, SNORD83B, SNRPD3, SNU13, SSTR3, SNORD83A, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SFI1, SGSM1, SGSM3, SEZ6L, SEZ6L-AS1, SF3A1, SH3BP1, SNORA92, SNORD125, SNORD139, SNAP29, SNORA50B, SNORA77B, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SCARF2, SNORD140, SNORD43, SEPTIN3, SEPTIN5, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RASD2, RASL10A, RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, SERHL2, SERPIND1, PRR14L, PRR34, PVALB, RAB36, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, RAC2, RANBP1, RANGAP1, RBFOX2, RBX1, PRR34-AS1, PRR5, PRR5-ARHGAP8, PIM3, PISD, PITPNB, PIWIL3, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, NUP50, NUP50-DT, OSBP2, PANX2, PARVB, PACSIN2, OSM, P2RX6, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PNPLA5, POLDIP3, POLR2F, PEX26, PHETA2, MYH9-DT, MYO18B, NCAPH2, NCF4, NCF4-AS1, NDUFA6, MPPED1, MPST, MRTFA-AS1, MTFP1, NIPSNAP1, NOA3, MYO18B-AS1, NAGA, NOL12, MLC1, MMP11, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIR659, MIR6816, MIR6818, MIR6819, MRPL40, MRTFA, MN1, MORC2, MIR378I, MIR3909, MIR5571, MIR5739, MIR6069, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MORC2-AS1, MOV10L1, MIR650, MIR658, MIR1306, MIR130B, MIR185, MIR3199-2, MIR3200, MIR3201, MIR6817, MIR301B, MIR3198-1, MGAT3, MGAT3-AS1, MICALL1, MIEF1, MIR12114, MIR1249, MIR3199-1, MIR33A, MIR3618, MIR3619, MIAT, MIATNB, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MICAL3, MIF, MIF-AS1, MIOX, LOC128772428, LOC128772429, LOC128772430, LOC128772433, LOC128772434, LOC128772435, LOC128772436, LOC128772437, LOC128772431, LOC128772432, LOC128772438, LOC284898, LOC284912, LOC339685, LOC126863171, LOC126863172, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863173, LOC126863174, LOC126863183, LOC126863184, LRRC74B, LRRC75B, LZTR1, LOC126863157, LOC126863158, LOC126863163, LOC126863164, LOC126863168, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863165, LOC126863166, LOC126863167, LOC126863188, LOC128706667, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC126863139, LOC126863151, LOC126863152, LOC126863153, LOC126863130, LOC126863135, LOC126863136, LOC126863131, LOC126863132, LOC126863122, LOC126863123, LOC126863124, LOC126863133, LOC126863134, LOC126863137, LOC126863138, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC126863106, LOC126863107, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863125, LOC126863126, LOC126863127, LOC126863128, LOC126863104, LOC126863105, LOC126863095, LOC126863099, LOC126863100, LOC126863101, LOC126863093, LOC126863094, LOC126863096, LOC126863097, LOC126863098, LOC126863108, LOC126863113, LOC126863114, LOC126863115, LOC125446234, LOC125446235, LOC125446236, LOC125446237, LOC125446238, LOC125446246, LOC125446247, LOC125446239, LOC125446243, LOC125446244, LOC125446248, LOC125446250, LOC125446253, LOC125446254, LOC125446260, LOC125446261, LOC125446216, LOC125446217, LOC125446218, LOC125446219, LOC125446220, LOC125446222, LOC125446223, LOC125446226, LOC125446227, LOC125446228, LOC125446229, LOC125446224, LOC125446225, LOC125446262, LOC126088082, LOC125424399, LOC125424400, LOC125424401, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125424402, LOC125424403, LOC125424404, LOC125424407, LOC125424408, LOC125424409, LOC125424410, LOC125446212, LOC125446213, LOC125446232, LOC125446233, LOC125424382, LOC125424383, LOC125424384, LOC125424387, LOC125424388, LOC125424389, LOC125424390, LOC125424391, LOC125424392, LOC125424386, LOC122455341, LOC114827861, LOC125424393, LOC125424394, LOC121627934, LOC125424395, LOC125424396, LOC121627956, LOC121853035, LOC121853036, LOC121853037, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC116309126, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121853038, LOC121853039, LOC121853047, LOC121853048, LOC121853040, LOC121853041, LOC121853042, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627939, LOC121627940, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627928, LOC116309130, LOC116309131, LOC121627929, LOC121627930, LOC121627931, LOC112695100, LOC112695101, LOC112695102, LOC112695106, LOC112695107, LOC114004362, LOC114004363, LOC121627951, LOC121627952, LOC121627953, LOC112695103, LOC112695104, LOC112695105, LOC112695108, LOC114004361, LOC112695079, LOC112695080, LOC112695081, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC116309127, LOC116309128, LOC116309129, LOC112695084, LOC112695085, LOC112695086, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, THAP7, TCF20, TCN2, TEF, TFIP11, TFIP11-DT, 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, 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, CIMAP1B, CIMIP4, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EFCAB6-DT, 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, FAM247A, FAM83F, FBLN1, FBXO7, 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, LOC100506271, LOC100506472, LOC101927344, 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
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
6.
GRCh37:
Chr22:17397498-24754904
GRCh38:
Chr22:16916608-24358936
ADA2, AIFM3, ARVCF, ATP6V1E1, BCL2L13, BCR, BID, C22orf15, C22orf39, CABIN1, CCDC116, CCDC188, CDC45, CECR2, CECR3, CECR7, CHCHD10, CLDN5, CLTCL1, COMT, CRKL, DDT, DDTL, DERL3, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, DRICH1, ESS2, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM247A, GAB4, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GSC2, GSTT2, GSTT2B, GSTT4, HDHD5, HDHD5-AS1, HIC2, HIRA, HSERVPRODH, 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, KLHL22, LINC00528, LINC00895, LINC00896, LINC01311, LINC01634, LINC01637, LINC01651, LINC01659, LINC01664, LINC02556, LINC02557, LINC02891, LL22NC03-63E9.3, LOC101929372, LOC106799832, LOC106799835, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC108491832, LOC108491837, LOC108510655, LOC110120888, LOC110121413, LOC110121474, LOC111721701, LOC111721702, LOC111828506, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC114004361, LOC114827861, LOC116309126, LOC116309127, LOC121627928, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121853035, LOC121853036, LOC122455341, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC125424386, LOC125424387, LOC125424388, LOC125424389, LOC125424390, LOC125424391, LOC125424392, LOC125424393, LOC125424394, LOC125424395, LOC125424396, LOC125424397, LOC125424398, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC126863097, LOC126863098, LOC126863099, LOC126863100, LOC126863101, LRRC74B, LZTR1, MAPK1, MED15, MICAL3, MIF, MIF-AS1, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3198-1, MIR3618, MIR4761, MIR5571, MIR648, MIR649, MIR650, MIR6816, MMP11, MRPL40, P2RX6, PCAT14, PEX26, PI4KA, PPIL2, PPM1F, PPM1F-AS1, PRAME, PRODH, RAB36, RANBP1, RGL4, RIMBP3, RIMBP3B, RIMBP3C, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEPT5-GP1BB, SEPTIN5, SERPIND1, SLC25A1, SLC25A18, SLC2A11, SLC7A4, SMARCB1, SNAP29, SNORA77B, SPECC1L, SPECC1L-ADORA2A, SUSD2, TANGO2, TBX1, THAP7, THAP7-AS1, TMEM121B, TMEM191B, TMEM191C, TOP3B, TRMT2A, TSSK2, TUBA8, TXNRD2, UBE2L3, UFD1, UFD1-AS1, USP18, USP41, VPREB1, VPREB3, YDJC, YPEL1, ZDHHC8, ZNF280A, ZNF280B, ZNF70, ZNF74
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr22:17397498-20311763
GRCh38:
Chr22:16916608-20324240
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr22:17397498-20311763
GRCh38:
Chr22:16916608-20324240
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr22:17397498-21505417
GRCh38:
Chr22:16916608-21151128
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
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, 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, 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, CIMAP1B, CIMIP4, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EFCAB6-DT, 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, FAM247A, FAM83F, FBLN1, FBXO7, 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, LOC100506271, LOC100506472, LOC101927344, 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, 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, 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, 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
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
11.
GRCh37:
Chr22:17397633-19584890
GRCh38:
Chr22:16916743-19597367
See casesPathogenic
(May 30, 2010)
no assertion criteria provided
12.
GRCh37:
Chr22:18628019-21505417
GRCh38:
Chr22:18145252-21151128
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
13.
GRCh37:
Chr22:18628019-21464119
GRCh38:
Chr22:18145252-21109830
See casesPathogenic
(Dec 2, 2011)
no assertion criteria provided
14.
GRCh37:
Chr22:18628019-21505417
GRCh38:
Chr22:18145252-21151128
See casesPathogenic
(Jan 27, 2011)
no assertion criteria provided
15.
GRCh37:
Chr22:18628147-21440515
GRCh38:
Chr22:18145380-21086226
See casesPathogenic
(Sep 30, 2010)
no assertion criteria provided
16.
GRCh37:
Chr22:18640729-21465659
GRCh38:
Chr22:18157962-21111370
See casesPathogenic
(Jul 18, 2014)
no assertion criteria provided
17.
GRCh38:
Chr22:18159879-21387988
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitter
18.
GRCh38:
Chr22:18159879-21362822
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr22:18644241-21465662
GRCh38:
Chr22:18161474-21111373
See casesPathogenic
(Oct 22, 2013)
no assertion criteria provided
20.
GRCh38:
Chr22:18163926-21277123
SchizophreniaPathogenic
(Mar 20, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr22:18648856-21465662
GRCh38:
Chr22:18166089-21111373
See casesPathogenic
(Mar 10, 2014)
no assertion criteria provided
22.
GRCh37:
Chr22:18650675-21455556
GRCh38:
Chr22:18167908-21101267
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
23.
GRCh37:
Chr22:18650675-21455556
GRCh38:
Chr22:18167908-21101267
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
24.
GRCh37:
Chr22:18651614-21440455
GRCh38:
Chr22:18168847-21086166
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
25.
GRCh37:
Chr22:18652637-21914178
GRCh38:
Chr22:18169870-21559889
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
26.
GRCh37:
Chr22:18660553-21455556
GRCh38:
Chr22:18177786-21101267
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
27.
GRCh37:
Chr22:18660553-21455556
GRCh38:
Chr22:18177786-21101267
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
28.
GRCh37:
Chr22:18661699-22905025
GRCh38:
Chr22:18178932-22562620
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
29.
GRCh37:
Chr22:18661699-21505445
GRCh38:
Chr22:18178932-21151156
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
30.
GRCh37:
Chr22:18661699-21505445
GRCh38:
Chr22:18178932-21151156
See casesPathogenic
(Jun 30, 2010)
no assertion criteria provided
31.
GRCh37:
Chr22:18661724-21505417
GRCh38:
Chr22:18178957-21151128
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
32.
GRCh37:
Chr22:18661724-21561514
GRCh38:
Chr22:18178957-21207225
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
33.
GRCh37:
Chr22:18661724-21440514
GRCh38:
Chr22:18178957-21086225
See casesPathogenic
(Aug 12, 2011)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr22:18661724-21809009
GRCh38:
Chr22:18178957-21454720
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
35.
GRCh37:
Chr22:18661724-21461752
GRCh38:
Chr22:18178957-21107463
See casesPathogenic
(Apr 30, 2011)
no assertion criteria provided
36.
GRCh37:
Chr22:18661724-21464119
GRCh38:
Chr22:18178957-21109830
See casesPathogenic
(Aug 14, 2012)
no assertion criteria provided
37.
GRCh37:
Chr22:18661724-21461811
GRCh38:
Chr22:18178957-21107522