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Items: 1 to 100 of 1759

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
APOBEC3F, APOBEC3G, BRD1, C1QTNF6, CECR2, CECR3, DERL3, DESI1, DGCR11, EMID1, ENTHD1, GAL3ST1, GSC2, GSTT2, HSERVPRODH, IFT27, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV3-32, IGLV3-9, IGLV4-3, INPP5J, ISX, JOSD1, L3MBTL2-AS1, LARGE-AS1, LINC00895, LINC00896, LINC01659, LINC01664, LOC105373044, LOC105373064, LOC108491832, LOC111828508, LOC111828509, LOC112694764, LOC112694770, LOC112694771, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC105373100, LOC106780824, LOC106799832, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC106799835, LOC107181287, LOC107275221, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC112694766, LOC112694767, LOC112694768, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LINC02891, LOC102724378, LOC105372977, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100506271, LINC01656, LOC100506472, LOC101927551, LOC101929372, LOC105372990, LOC105373031, LINC00898, LINC00899, LINC01310, LINC01521, LINC01589, LINC01634, LINC01637, LINC01638, LINC01639, LINC01643, LINC01644, LINC01651, LINC01311, LINC01315, LINC00207, LINC00229, LINC00528, LINC01399, LINC01422, LINC01640, LARGE1, LHFPL7, LIF, LGALS1, LGALS2, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, L3MBTL2, LIF-AS1, LIF-AS2, LIMK2, KCNJ4, KCTD17, KDELR3, KIAA1671, KLHL22, IGLV6-57, IGLV7-43, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, KREMEN1, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV5-52, IGLV3-10, IGLV3-12, IGLV3-27, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGL, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLC1, IGLJ1, IGLJ2, IGLJ7, IGLL1, IGLC2, IGLC3, IGLC7, IGLL5, IGLV1-36, IGLV1-40, GSTT2B, GTPBP1, GTSE1, GTSE1-DT, H1-0, HDAC10, HSCB, GSTT4, GUCD1, HDHD5, HDHD5-AS1, HIC2, GALR3, GAS2L1, GCAT, GGTLC2, GGTLC3, GNAZ, GGT5, GNB1L, GP1BB, GRAMD4, GRAP2, DGCR2, DGCR5, C22orf15, C22orf23, GRK3, GRK3-AS1, CECR7, FAM227A, FAM230A, KIAA0930, KIAA1656, FAM230F, FAM230G, A4GALT, FAM247A, FAM83F, APOBEC3H, FOXRED2, GAB4, ACO2, APOL1, APOL2, APOL3, C22orf31, C22orf39, C22orf42, CELSR1, CENPM, CERK, DGCR6, DGCR6L, FAM230B, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FBLN1, FBXO7, GGA1, GGT1, GGT2, DRICH1, EFCAB6, EFCAB6-AS1, EFCAB6-DT, DUSP18, DGCR8, EIF3D, EIF3L, EIF4ENIF1, ELFN2, FAM230D, FAM230E, DMC1, DNAJB7, DNAL4, DRG1, CRELD2, CRKL, CHADL, CHCHD10, DDTL, DDX17, DENND6B, DEPDC5, CRYBA4, CRYBB1, CLDN5, CLTCL1, COMT, CPT1B, CABIN1, CABP7, CACNA1I, CACNG2-DT, CARD10, CASTOR1, CBX7, CACNG2, CBX6, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCDC188, APOL4, APOL5, APOL6, ARVCF, ASCC2, ARHGAP8, ARSA, ASPHD2, ATF4, ATP5MGL, BID, BIK, BPIFC, CDC42EP1, CDC45, CDPF1, ARFGAP3, ADSL, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, ADM2, ADORA2A, ADORA2A-AS1, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, ACR, ADA2, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CIMIP4, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, 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, 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, LOC112695074, LOC112695075, LOC112694772, 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, NPTXR, NF2, NFAM1, NHIP, NIPSNAP1, NOA3, NOL12, 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, 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
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
2.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
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, 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, 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, LOC111562373, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, 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
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
3.
GRCh37:
Chr22:18661724-32217179
GRCh38:
Chr22:18178957-31821193
INPP5J, LHFPL7, LINC01311, LINC01521, LINC01637, LINC01638, ADORA2A, ADORA2A-AS1, AIFM3, AP1B1, ARVCF, ASCC2, ASPHD2, BCR, C22orf15, C22orf31, C22orf39, CABIN1, CABP7, CASTOR1, CCDC116, CCDC117, CCDC157, CCDC188, CDC45, CHCHD10, CHEK2, CLDN5, CLTCL1, COMT, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, DDT, DDTL, DEPDC5, DERL3, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, DRG1, DRICH1, DUSP18, EIF4ENIF1, EMID1, ESS2, EWSR1, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM247A, GAL3ST1, GAS2L1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRK3, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GUCD1, HIC2, HIRA, HORMAD2, HORMAD2-AS1, HPS4, HSCB, 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, KIAA1656, LIF, LINC01422, LINC01651, LINC01659, LINC02554, LINC02557, KLHL22, KIAA1671-AS1, IGLV7-46, IGLV8-61, IGLV9-49, IGLV7-43, KREMEN1, KIAA1671, LINC02556, LIMK2, LINC00895, LINC00896, LIF-AS1, LIF-AS2, IGLV6-57, LINC02559, LINC02891, LL22NC03-63E9.3, LOC105372977, LOC105372990, LOC106780824, LOC107275221, LOC107275224, LOC107275225, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985544, LOC108178988, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC110091768, LOC110120888, LOC110121337, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC114004361, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121853035, LOC121853036, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC122455341, 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, 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, LOC284898, LRRC74B, LRRC75B, LZTR1, MAPK1, MED15, MIAT, MIATNB, MIF, MIF-AS1, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3199-1, MIR3199-2, MIR3200, MIR3618, MIR3653, MIR3928, MIR4761, MIR548J, MIR5571, MIR5739, MIR649, MIR650, MIR6816, MIR6817, MIR6818, MIR7109, MMP11, MN1, MORC2, MORC2-AS1, MRPL40, MTFP1, MTMR3, MYO18B, MYO18B-AS1, NEFH, NF2, NIPSNAP1, OSBP2, OSM, P2RX6, PATZ1, PCAT14, PES1, PI4KA, PIK3IP1, PIK3IP1-DT, PISD, PITPNB, PIWIL3, PLA2G3, PPIL2, PPM1F, PPM1F-AS1, PRAME, PRODH, PRR14L, RAB36, RANBP1, RASL10A, RFPL1, RFPL1S, RGL4, RHBDD3, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RSPH14, RTL10, RTN4R, SCARF2, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SEPT5-GP1BB, SEPTIN5, SERPIND1, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SLC25A1, SLC2A11, SLC35E4, SLC7A4, SMARCB1, SMTN, SNAP29, SNORA77B, SNORD125, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SRRD, SUSD2, TANGO2, TBC1D10A, TBX1, TCN2, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TMEM191B, TMEM191C, TOP3B, TPST2, TRMT2A, TSSK2, TTC28, TTC28-AS1, TUG1, TXNRD2, UBE2L3, UFD1, UFD1-AS1, UPB1, UQCR10, USP41, VPREB1, VPREB3, XBP1, YDJC, YPEL1, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
4.
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, CIMIP4, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSF2RB, DDT, DDTL, DEPDC5, DERL3, DRG1, DRICH1, DUSP18, EIF3D, EIF4ENIF1, EMID1, EWSR1, FAM230B, FAM230H, FAM230I, FAM246A, FAM247A, 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, 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
5.
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
6.
GRCh37:
Chr22:26847008-31847912
GRCh38:
Chr22:26451042-31451926
AP1B1, ASCC2, C22orf31, CABP7, CASTOR1, CCDC117, CCDC157, CHEK2, CRYBA4, CRYBB1, DRG1, DUSP18, EIF4ENIF1, EMID1, EWSR1, GAL3ST1, GAS2L1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, INPP5J, KIAA1656, KREMEN1, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC01422, LINC01521, LINC01638, LINC02554, LOC105372977, LOC105372990, LOC107275221, LOC107275224, LOC107275225, LOC107985544, LOC108178988, LOC108353816, LOC110091768, LOC110121337, LOC110121419, LOC111828507, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC116309128, LOC116309129, LOC116309130, LOC121627936, LOC121627937, LOC121627938, LOC121853040, LOC125424404, LOC125424407, LOC125424408, LOC125424409, LOC125424410, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125446212, LOC125446213, LOC125446214, LOC125446215, LOC125446216, LOC125446217, LOC126863105, LOC126863106, LOC126863107, LOC126863108, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863113, LOC126863114, LOC126863115, LOC126863116, LOC126863117, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC284898, MIAT, MIATNB, MIR3199-1, MIR3199-2, MIR3200, MIR3653, MIR3928, MIR548J, MIR5739, MIR6818, MN1, MORC2, MORC2-AS1, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PIK3IP1-DT, PITPNB, PLA2G3, RASL10A, RFPL1, RFPL1S, RHBDD3, RNF185, RNF215, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SF3A1, SLC35E4, SMTN, SNORD125, SRRD, TBC1D10A, TCN2, TFIP11, TFIP11-DT, THOC5, TPST2, TTC28, TTC28-AS1, TUG1, UQCR10, XBP1, ZMAT5, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
7.
GRCh37:
Chr22:27375542-34388209
GRCh38:
Chr22:26979579-33992220
ZNRF3-AS1, ZMAT5, ZNRF3, YWHAH-AS1, TTC28-AS1, TUG1, UQCR10, XBP1, YWHAH, AP1B1, ASCC2, BPIFC, C22orf31, C22orf42, CABP7, CASTOR1, CCDC117, CCDC157, CHEK2, DEPDC5, DRG1, DUSP18, EIF4ENIF1, EMID1, EWSR1, FBXO7, GAL3ST1, GAS2L1, HORMAD2, HORMAD2-AS1, HSCB, INPP5J, KIAA1656, KREMEN1, LARGE-AS1, LARGE1, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC01521, LINC01638, LINC01640, LINC02554, LINC02558, LOC105372977, LOC105372990, LOC107275221, LOC107275224, LOC107275225, LOC107985544, LOC108178988, LOC108353816, LOC110121337, LOC110121419, LOC110121499, LOC111828507, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC116309129, LOC116309130, LOC121627938, LOC121627939, LOC121627940, LOC121853040, LOC125424409, LOC125424410, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125446212, LOC125446213, LOC125446214, LOC125446215, LOC125446216, LOC125446217, LOC125446218, LOC125446219, LOC125446220, LOC125446222, LOC125446223, LOC125446224, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863113, LOC126863114, LOC126863115, LOC126863116, LOC126863117, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC126863122, LOC126863123, LOC126863124, LOC126863125, LOC126863126, LOC126863127, LOC284898, LOC339666, MIR3199-1, MIR3199-2, MIR3200, MIR3653, MIR3928, MIR4764, MIR5739, MIR6818, MIR7109, MN1, MORC2, MORC2-AS1, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, NOA3, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PIK3IP1-DT, PISD, PITPNB, PLA2G3, PRR14L, RASL10A, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RHBDD3, RNF185, RNF215, RTCB, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SF3A1, SFI1, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SMTN, SNORA50B, SNORD125, SYN3, SYN3-AS1, TBC1D10A, TCN2, THOC5, TIMP3, TTC28
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr22:28837023-30672500
GRCh38:
Chr22:28441035-30276511
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
9.
GRCh37:
Chr22:29677909-30274388
GRCh38:
Chr22:29281920-29878399
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr22:29996311-29999991
GRCh38:
Chr22:29600322-29604002
NF2Neurofibromatosis, type 2Pathogenic
(Nov 27, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr22:29998201-30006700
GRCh38:
Chr22:29602212-29610711
NF2Neurofibromatosis, type 2Pathogenic
(Mar 21, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr22:29998464-30035142
GRCh38:
Chr22:29602475-29639153
NF2See casesPathogenic
(May 6, 2011)
no assertion criteria provided
13.
GRCh37:
Chr22:29999236
GRCh38:
Chr22:29603247
NF2not providedBenign
(Jun 14, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr22:29999343-29999344
GRCh38:
Chr22:29603354-29603355
NF2not providedBenign
(May 22, 2021)
criteria provided, single submitter
15.
GRCh37:
Chr22:29999344
GRCh38:
Chr22:29603355
NF2not providedBenign
(Jan 6, 2019)
criteria provided, single submitter
16.
GRCh37:
Chr22:29999358
GRCh38:
Chr22:29603369
NF2not providedLikely benign
(Apr 24, 2019)
criteria provided, single submitter
17.
GRCh37:
Chr22:29999413
GRCh38:
Chr22:29603424
NF2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr22:29999586
GRCh38:
Chr22:29603597
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr22:29999591
GRCh38:
Chr22:29603602
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr22:29999668
GRCh38:
Chr22:29603679
NF2Neurofibromatosis, type 2Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
21.
GRCh37:
Chr22:29999704
GRCh38:
Chr22:29603715
NF2Neurofibromatosis, type 2Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
22.
GRCh37:
Chr22:29999720
GRCh38:
Chr22:29603731
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr22:29999742
GRCh38:
Chr22:29603753
NF2Neurofibromatosis, type 2Benign
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr22:29999743
GRCh38:
Chr22:29603754
NF2Neurofibromatosis, type 2Benign
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr22:29999784
GRCh38:
Chr22:29603795
NF2not provided, Neurofibromatosis, type 2Benign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr22:29999825
GRCh38:
Chr22:29603836
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr22:29999843
GRCh38:
Chr22:29603854
NF2Neurofibromatosis, type 2Uncertain significance
(Jul 2, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr22:29999878
GRCh38:
Chr22:29603889
NF2not provided, Neurofibromatosis, type 2Benign
(Jun 24, 2018)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr22:29999970
GRCh38:
Chr22:29603981
NF2not specified, Neurofibromatosis, type 2Benign/Likely benign
(Jul 7, 2023)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr22:29999978-30000111
GRCh38:
Chr22:29603989-29604122
NF2Neurofibromatosis, type 2Pathogenic
(Jun 8, 2019)
criteria provided, single submitter
31.
GRCh37:
Chr22:29999978-30077600
GRCh38:
Chr22:29603989-29681611
NF2Neurofibromatosis, type 2Pathogenic
(Nov 27, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr22:29999982-30000107
GRCh38:
Chr22:29603993-29604118
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 3, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr22:29999983
GRCh38:
Chr22:29603994
NF2Hereditary cancer-predisposing syndromeUncertain significance
(Feb 22, 2023)
criteria provided, single submitter
34.
GRCh37:
Chr22:29999983
GRCh38:
Chr22:29603994
NF2Hereditary cancer-predisposing syndromeUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
35.
GRCh37:
Chr22:29999984-29999985
GRCh38:
Chr22:29603995-29603996
NF2Hereditary cancer-predisposing syndromeUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr22:29999985-29999996
GRCh38:
Chr22:29603996-29604007
NF2Neurofibromatosis, type 2Uncertain significance
(Aug 31, 2021)
criteria provided, single submitter
37.
GRCh37:
Chr22:29999987
GRCh38:
Chr22:29603998
NF2Hereditary cancer-predisposing syndromeUncertain significance
(Oct 19, 2020)
criteria provided, single submitter
38.
GRCh37:
Chr22:29999988
GRCh38:
Chr22:29603999
NF2M1Vnot provided, Neurofibromatosis, type 2Uncertain significance
(Feb 11, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr22:29999989
GRCh38:
Chr22:29604000
NF2M1Tnot providedUncertain significance
(May 8, 2023)
criteria provided, single submitter
40.
GRCh37:
Chr22:29999990
GRCh38:
Chr22:29604001
NF2M1IHereditary cancer-predisposing syndromeUncertain significance
(Nov 17, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr22:29999991
GRCh38:
Chr22:29604002
NF2A2SFamilial meningioma, Schwannomatosis 1, Neurofibromatosis, type 2
Uncertain significance
(Apr 27, 2019)
criteria provided, single submitter
42.
GRCh37:
Chr22:29999993
GRCh38:
Chr22:29604004
NF2Neurofibromatosis, type 2Likely benign
(Jun 5, 2019)
criteria provided, single submitter
43.
GRCh37:
Chr22:29999994
GRCh38:
Chr22:29604005
NF2A4fsNeurofibromatosis, type 2Pathogenic
(Apr 10, 2022)
criteria provided, multiple submitters, no conflicts
44.
GRCh37:
Chr22:29999996
GRCh38:
Chr22:29604007
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Sep 18, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr22:29999996
GRCh38:
Chr22:29604007
NF2Neurofibromatosis, type 2, Hereditary cancer-predisposing syndromeLikely benign
(Mar 19, 2021)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr22:29999997
GRCh38:
Chr22:29604008
NF2A4SHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr22:29999999-30000009
GRCh38:
Chr22:29604010-29604020
NF2I5fsHereditary cancer-predisposing syndromeLikely pathogenic
(May 3, 2023)
criteria provided, single submitter
48.
GRCh37:
Chr22:29999999-30000000
GRCh38:
Chr22:29604010-29604011
NF2I5VNeurofibromatosis, type 2Uncertain significance
(Jul 9, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr22:29999999
GRCh38:
Chr22:29604010
NF2not specified, not provided, Hereditary cancer-predisposing syndrome,
Neurofibromatosis, type 2
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr22:30000002
GRCh38:
Chr22:29604013
NF2I5MHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
51.
GRCh37:
Chr22:30000003
GRCh38:
Chr22:29604014
NF2A6THereditary cancer-predisposing syndromeUncertain significance
(Feb 15, 2023)
criteria provided, single submitter
52.
GRCh37:
Chr22:30000003
GRCh38:
Chr22:29604014
NF2A6PHereditary cancer-predisposing syndromeUncertain significance
(Aug 2, 2018)
criteria provided, single submitter
53.
GRCh37:
Chr22:30000004
GRCh38:
Chr22:29604015
NF2A6DNeurofibromatosis, type 2Uncertain significance
(Sep 6, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr22:30000007
GRCh38:
Chr22:29604018
NF2S7FHereditary cancer-predisposing syndromeUncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr22:30000008
GRCh38:
Chr22:29604019
NF2Hereditary cancer-predisposing syndromeLikely benign
(Nov 8, 2021)
criteria provided, single submitter
56.
GRCh37:
Chr22:30000009
GRCh38:
Chr22:29604020
NF2R8GInborn genetic diseasesUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr22:30000009
GRCh38:
Chr22:29604020
NF2R8SHereditary cancer-predisposing syndromeLikely benign
(Feb 15, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr22:30000009-30000010
GRCh38:
Chr22:29604020-29604021
NF2R8NHereditary cancer-predisposing syndromeUncertain significance
(Mar 10, 2023)
criteria provided, single submitter
59.
GRCh37:
Chr22:30000009
GRCh38:
Chr22:29604020
NF2R8CNeurofibromatosis, type 2Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr22:30000010
GRCh38:
Chr22:29604021
NF2R8HHereditary cancer-predisposing syndromeUncertain significance
(Feb 15, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr22:30000010
GRCh38:
Chr22:29604021
NF2R8LNeurofibromatosis, type 2, Hereditary cancer-predisposing syndromeUncertain significance
(Aug 13, 2021)
criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr22:30000010
GRCh38:
Chr22:29604021
NF2R8PNeurofibromatosis, type 2Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
63.
GRCh37:
Chr22:30000012
GRCh38:
Chr22:29604023
NF2M9VHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr22:30000017
GRCh38:
Chr22:29604028
NF2F11fsnot providedPathogenic
(Feb 4, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr22:30000019
GRCh38:
Chr22:29604030
NF2F11CHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Apr 18, 2023)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr22:30000023
GRCh38:
Chr22:29604034
NF2Hereditary cancer-predisposing syndrome, not provided, Neurofibromatosis, type 2
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr22:30000023-30000024
GRCh38:
Chr22:29604034-29604035
NF2L14fsNeurofibromatosis, type 2, not providedPathogenic
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr22:30000028
GRCh38:
Chr22:29604039
NF2L14PHereditary cancer-predisposing syndromeUncertain significance
(Feb 21, 2023)
criteria provided, single submitter
69.
GRCh37:
Chr22:30000030
GRCh38:
Chr22:29604041
NF2K15ENeurofibromatosis, type 2Uncertain significance
(Jul 17, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr22:30000030
GRCh38:
Chr22:29604041
NF2K15*Neurofibromatosis, type 2Pathogenic
(Oct 13, 2014)
no assertion criteria provided
71.
GRCh37:
Chr22:30000035
GRCh38:
Chr22:29604046
NF2Neurofibromatosis, type 2, Hereditary cancer-predisposing syndromeLikely benign
(Sep 26, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr22:30000036
GRCh38:
Chr22:29604047
NF2K17ENeurofibromatosis, type 2Uncertain significance
(Dec 24, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr22:30000036
GRCh38:
Chr22:29604047
NF2K17QHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Aug 9, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr22:30000037
GRCh38:
Chr22:29604048
NF2K17RNeurofibromatosis, type 2, Hereditary cancer-predisposing syndromeUncertain significance
(Jan 14, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr22:30000042
GRCh38:
Chr22:29604053
NF2P19SHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Sep 24, 2021)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr22:30000043
GRCh38:
Chr22:29604054
NF2P19RNeurofibromatosis, type 2, Hereditary cancer-predisposing syndromeUncertain significance
(May 6, 2022)
criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr22:30000044
GRCh38:
Chr22:29604055
NF2Neurofibromatosis, type 2Likely benign
(Sep 6, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr22:30000045
GRCh38:
Chr22:29604056
NF2K20*Neurofibromatosis, type 2Pathogenic
(Aug 27, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr22:30000045
GRCh38:
Chr22:29604056
NF2K20QNeurofibromatosis, type 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr22:30000045-30000048
GRCh38:
Chr22:29604056-29604059
NF2K20fsNeurofibromatosis, type 2Likely pathogenic
(Nov 1, 2016)
criteria provided, single submitter
81.
GRCh37:
Chr22:30000046
GRCh38:
Chr22:29604057
NF2K20THereditary cancer-predisposing syndromeUncertain significance
(Apr 19, 2023)
criteria provided, single submitter
82.
GRCh37:
Chr22:30000048
GRCh38:
Chr22:29604059
NF2T21ANeurofibromatosis, type 2Uncertain significance
(Aug 26, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr22:30000050
GRCh38:
Chr22:29604061
NF2Hereditary cancer-predisposing syndromeLikely benign
(Oct 28, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr22:30000054
GRCh38:
Chr22:29604065
NF2T23PNeurofibromatosis, type 2Uncertain significance
(Aug 28, 2021)
criteria provided, single submitter
85.
GRCh37:
Chr22:30000054-30000055
GRCh38:
Chr22:29604065-29604066
NF2V24fsNeurofibromatosis, type 2Pathogenic
(Jul 4, 2018)
criteria provided, single submitter
86.
GRCh37:
Chr22:30000056
GRCh38:
Chr22:29604067
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Mar 19, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr22:30000056
GRCh38:
Chr22:29604067
NF2Neurofibromatosis, type 2Likely benign
(Feb 2, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr22:30000056
GRCh38:
Chr22:29604067
NF2Neurofibromatosis, type 2Uncertain significance
(Oct 17, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr22:30000058
GRCh38:
Chr22:29604069
NF2V24ANeurofibromatosis, type 2, Hereditary cancer-predisposing syndromeConflicting interpretations of pathogenicity
(Aug 31, 2021)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr22:30000059
GRCh38:
Chr22:29604070
NF2Neurofibromatosis, type 2, Hereditary cancer-predisposing syndromeLikely benign
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr22:30000059
GRCh38:
Chr22:29604070
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Oct 4, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr22:30000060
GRCh38:
Chr22:29604071
NF2R25GNeurofibromatosis, type 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr22:30000060
GRCh38:
Chr22:29604071
NF2R25WNeurofibromatosis, type 2Uncertain significance
(Sep 1, 2021)
criteria provided, single submitter
94.
GRCh37:
Chr22:30000061
GRCh38:
Chr22:29604072
NF2R25KNeurofibromatosis, type 2, Hereditary cancer-predisposing syndromeUncertain significance
(Nov 7, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr22:30000063
GRCh38:
Chr22:29604074
NF2I26FHereditary cancer-predisposing syndromeUncertain significance
(Oct 2, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr22:30000063
GRCh38:
Chr22:29604074
NF2I26VHereditary cancer-predisposing syndromeUncertain significance
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
97.
GRCh37:
Chr22:30000064
GRCh38:
Chr22:29604075
NF2I26TNeurofibromatosis, type 2, not providedUncertain significance
(Sep 5, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr22:30000065
GRCh38:
Chr22:29604076
NF2Neurofibromatosis, type 2, Hereditary cancer-predisposing syndromeLikely benign
(Jan 22, 2022)
criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr22:30000065
GRCh38:
Chr22:29604076
NF2I26MNeurofibromatosis, type 2Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
100.
GRCh37:
Chr22:30000071
GRCh38:
Chr22:29604082
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
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