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Did you mean NF2 as a gene symbol? Search ClinVar for NF2

See NF2 NF2, moesin-ezrin-radixin like (MERLIN) tumor suppressor in the Gene database

Search results

Items: 1 to 100 of 1018

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
ZNRF3, ZNRF3-AS1, ZNF280A, ZNF280B, ZNF70, ZNF74, ADM2, A4GALT, ACO2, ACR, ADA2, 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, LOC112268293, 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, 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, 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, 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, TFIP11-DT, THAP7, TCF20, TCN2, TEF, TEX33, TFIP11, THAP7-AS1, THOC5, TIMP3, 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
See casesPathogenic
(Sep 18, 2013)
no assertion criteria providedVCV000144164
2.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADORA2A-AS1, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCDC188, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CECR7, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR10, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DGCR9, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM83F, FBLN1, FBXO7, FLJ30901, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, GTSE1, GTSE1-DT, GUCD1, H1-0, HDAC10, HDHD5, HDHD5-AS1, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, HSERVPRODH, IFT27, IGL, IGLC1, IGLC2, IGLC3, IGLC7, IGLJ1, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLJ7, IGLL1, IGLL5, IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-10, IGLV3-12, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGLV3-27, IGLV3-32, IGLV3-9, IGLV4-3, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV5-52, IGLV6-57, IGLV7-43, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, KIAA1671, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC01399, LINC01422, LINC01521, LINC01589, LINC01634, LINC01637, LINC01638, LINC01639, LINC01640, LINC01643, LINC01644, LINC01651, LINC01656, LINC01659, LINC01664, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100130899, LOC100506271, LOC100506472, LOC101927551, LOC101929372, LOC102724378, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC106780824, LOC106799832, LOC106799835, LOC107181287, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, LOC112268293, 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, 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, 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, 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, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRMU, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1
See casesPathogenic
(Jul 30, 2010)
no assertion criteria providedVCV000145336
3.
GRCh37:
Chr22:18661724-32217179
GRCh38:
Chr22:18178957-31821193
TFIP11-DT, OSBP2, HSCB, LOC107275225, LOC107966121, MN1, MTMR3, IGLC7, FAM246C, MIR5571, IGLV3-10, IGLV3-25, OSM, LINC02556, PIWIL3, MIR1286, TSSK2, LOC121627938, RGL4, LIF, SEPTIN5, DGCR5, MYO18B, IGLV3-32, C22orf15, LOC112695080, SEC14L3, LOC112695085, MIR5739, LOC121627932, MIR3199-1, CRYBB2, GAL3ST1, LOC107963955, FAM230H, ASCC2, MIR650, IGLV5-48, GSTT2B, PATZ1, XBP1, FAM230J, ZNF280B, IGLV3-1, THAP7-AS1, IGLC2, ZNRF3, SEC14L2, MIR3618, FAM230D, NIPSNAP1, SLC7A4, SDF2L1, LOC110121419, SNORD125, GGT2, LOC112695084, LOC110121337, LINC01637, IGLV1-36, LOC112695074, MIR548J, MORC2, MORC2-AS1, IGLV7-46, DRG1, RASL10A, LOC112695076, HORMAD2, IGLV3-16, LOC116309130, GP1BB, LOC112694764, LOC110121499, TFIP11, LOC108491837, LOC110091768, MIR3653, MIF-AS1, MIR3199-2, LOC108353816, VPREB3, LOC111828507, MIR3200, TMEM191B, IGLJ7, AIFM3, CLDN5, TANGO2, INPP5J, FAM230A, EMID1, IGLV3-22, LINC02891, MAPK1, MIF, LOC107963947, ASPHD2, TMEM211, LOC121627931, LOC112694772, MIR130B, IGLV3-9, MYO18B-AS1, LOC112695078, MIR4761, LOC106780824, MIR185, IGLV11-55, IGLV5-52, IGLV7-43, ADORA2A, IGLV1-44, VPREB1, CABP7, EWSR1, LOC107966125, IGLV3-19, PRAME, COMT, LIMK2, DRICH1, ZNF280A, IGLL5, YPEL1, PLA2G3, DGCR11, LOC112695081, LOC111721701, LINC01651, RHBDD3, PITPNB, LOC116309128, MIAT, IGLV5-37, SMTN, LOC121627929, LOC112694767, LOC121853040, LOC105372977, PPM1F, SEC14L6, MTFP1, IGLV1-51, SFI1, IGLV8-61, LOC110121474, ZNRF3-AS1, RFPL1S, BCR, SELENOM, IGLV2-11, SF3A1, LINC02557, FAM230F, RNF185, LINC01422, C22orf31, IGLJ4, NF2, LOC107963948, KLHL22, AP1B1, LOC105372990, SPECC1L-ADORA2A, DGCR6L, IGLV2-18, IGLV1-50, ZMAT5, SEZ6L-AS1, LOC107275221, LOC121627934, ARVCF, FAM230I, FAM230G, SEPT5-GP1BB, LINC02554, IGLJ2, LOC112695086, PRODH, SLC25A1, SCARF2, EIF4ENIF1, LOC108510655, RIMBP3, IGLC1, IGLV4-3, RSPH14, TPST2, IGLV2-8, HORMAD2-AS1, MRPL40, RTN4R, RIMBP3B, CCDC117, DGCR10, ADORA2A-AS1, DGCR8, MED15, LOC107963951, TTC28, KIAA1671, SRRD, MIR6817, SMARCB1, IGLV4-69, RANBP1, SNORA77B, LRRC75B, YDJC, P2RX6, PI4KA, FAM246A, LOC121627935, SNRPD3, TCN2, LOC110121413, DERL3, GGTLC3, DGCR9, SNAP29, TRMT2A, CRYBA4, GGTLC2, GSTT2, PRR14L, LOC111721702, UFD1, CHCHD10, LINC01521, USP41, GUCD1, IGLJ5, LIF-AS2, CASTOR1, LOC112695079, RIMBP3C, MIATNB, LOC116309129, GAS2L1, MIR7109, TXNRD2, LIF-AS1, LZTR1, LOC121853039, KIAA1656, CCDC116, GNB1L, IGLJ1, LOC284898, IGLJ6, MIR649, THOC5, PPM1F-AS1, LOC108178988, HIC2, LOC107985544, LOC112695075, SLC2A11, LINC02559, DDTL, CRYBB1, LOC121853036, HSERVPRODH, HIRA, MIR301B, LINC01638, LOC111828506, THAP7, UBE2L3, UFD1-AS1, IGLV2-33, FAM246B, DGCR2, IGLV1-40, LOC114004361, CHEK2, LINC00896, PIK3IP1-DT, RAB36, MMP11, IGL, LRRC74B, RFPL1, IGLV3-21, KIAA1671-AS1, TBX1, ZDHHC8, GSTT4, LOC121627937, IGLV3-27, CLTCL1, SEC14L4, LOC116309126, CABIN1, UPB1, FAM230E, PISD, LINC01659, LOC121853035, IGLL1, IGLV5-45, NEFH, IGLV4-60, MIR1306, SGSM1, LOC112694768, TTC28-AS1, LOC116309127, SEZ6L, PES1, IGLV2-14, IGLV3-12, LOC121627936, LINC00895, LOC108491832, SUSD2, IGLC3, LOC112694771, ZNF74, CDC45, GRK3, TUG1, TOP3B, IGLV6-57, GSC2, LOC121853037, LOC110120888, FAM230B, CCDC157, LOC107275224, GNAZ, GGT5, C22orf39, ZNF70, PIK3IP1, CRYBB3, DGCR6, GRK3-AS1, CRKL, MIR6818, PPIL2, SLC35E4, LOC112694770, SPECC1L, MIR6816, LL22NC03-63E9.3, LOC121627930, TMEM191C, HPS4, LOC121853038, CCDC188, IGLV1-47, LOC112694766, DDT, KREMEN1, IGLV9-49, TBC1D10A, IGLJ3, RNF215, DEPDC5, RTL10, LOC121627933, SERPIND1, DUSP18, PCAT14, LINC01311, LOC122455341, UQCR10, ESS2, MIR3928, IGLV10-54, IGLV2-23, LOC112695077, GGT1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057132
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, 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, 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, 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, TMEM211, 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 providedVCV000148861
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, 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, 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, TMEM211, 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 providedVCV000149114
6.
GRCh37:
Chr22:26847008-31847912
GRCh38:
Chr22:26451042-31451926
See casesPathogenic
(Sep 27, 2013)
no assertion criteria providedVCV000155348
7.
GRCh37:
Chr22:27375542-34388209
GRCh38:
Chr22:26979579-33992220
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000057002
8.
GRCh37:
Chr22:28674793-32138314
GRCh38:
Chr22:28278805-31742328
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059073
9.
GRCh37:
Chr22:28837023-30672500
GRCh38:
Chr22:28441035-30276511
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitterVCV000059074
10.
GRCh37:
Chr22:29677909-30274388
GRCh38:
Chr22:29281920-29878399
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitterVCV000057489
11.
GRCh37:
Chr22:29996311-29999991
GRCh38:
Chr22:29600322-29604002
NF2Neurofibromatosis, type 2Pathogenic
(Nov 27, 2019)
criteria provided, single submitterVCV000967709
12.
GRCh37:
Chr22:29998464-30035142
GRCh38:
Chr22:29602475-29639153
NF2See casesPathogenic
(May 6, 2011)
no assertion criteria providedVCV000148402
13.
GRCh37:
Chr22:29999236
GRCh38:
Chr22:29603247
NF2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000683799
14.
GRCh37:
Chr22:29999343-29999344
GRCh38:
Chr22:29603354-29603355
NF2not providedBenign
(May 22, 2021)
criteria provided, single submitterVCV001282056
15.
GRCh37:
Chr22:29999344
GRCh38:
Chr22:29603355
NF2not providedBenign
(Jan 6, 2019)
criteria provided, single submitterVCV001265938
16.
GRCh37:
Chr22:29999358
GRCh38:
Chr22:29603369
NF2not providedLikely benign
(Apr 24, 2019)
criteria provided, single submitterVCV001212818
17.
GRCh37:
Chr22:29999413
GRCh38:
Chr22:29603424
NF2not providedLikely benign
(Jun 19, 2018)
criteria provided, single submitterVCV000674066
18.
GRCh37:
Chr22:29999586
GRCh38:
Chr22:29603597
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000341058
19.
GRCh37:
Chr22:29999591
GRCh38:
Chr22:29603602
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000341059
20.
GRCh37:
Chr22:29999668
GRCh38:
Chr22:29603679
NF2Neurofibromatosis, type 2Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000341060
21.
GRCh37:
Chr22:29999704
GRCh38:
Chr22:29603715
NF2Neurofibromatosis, type 2Uncertain significance
(Jun 14, 2016)
criteria provided, single submitterVCV000341061
22.
GRCh37:
Chr22:29999720
GRCh38:
Chr22:29603731
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000341062
23.
GRCh37:
Chr22:29999742
GRCh38:
Chr22:29603753
NF2Neurofibromatosis, type 2Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000341063
24.
GRCh37:
Chr22:29999743
GRCh38:
Chr22:29603754
NF2Neurofibromatosis, type 2Benign
(Jan 13, 2018)
criteria provided, single submitterVCV000341064
25.
GRCh37:
Chr22:29999784
GRCh38:
Chr22:29603795
NF2Neurofibromatosis, type 2, not providedBenign
(Jun 19, 2018)
criteria provided, multiple submitters, no conflictsVCV000341065
26.
GRCh37:
Chr22:29999825
GRCh38:
Chr22:29603836
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000901363
27.
GRCh37:
Chr22:29999843
GRCh38:
Chr22:29603854
NF2Neurofibromatosis, type 2Uncertain significance
(Jul 2, 2018)
criteria provided, single submitterVCV000584996
28.
GRCh37:
Chr22:29999878
GRCh38:
Chr22:29603889
NF2Neurofibromatosis, type 2, not providedBenign
(Jun 24, 2018)
criteria provided, multiple submitters, no conflictsVCV000341066
29.
GRCh37:
Chr22:29999970
GRCh38:
Chr22:29603981
NF2Neurofibromatosis, type 2, not specifiedBenign/Likely benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000262991
30.
GRCh37:
Chr22:29999978-30000111
GRCh38:
Chr22:29603989-29604122
NF2Neurofibromatosis, type 2Pathogenic
(Jun 8, 2019)
criteria provided, single submitterVCV000661747
31.
GRCh37:
Chr22:29999978-30077600
GRCh38:
Chr22:29603989-29681611
NF2Neurofibromatosis, type 2Pathogenic
(Nov 27, 2018)
criteria provided, single submitterVCV000640993
32.
GRCh37:
Chr22:29999982-30000107
GRCh38:
Chr22:29603993-29604118
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 3, 2018)
criteria provided, single submitterVCV000527727
33.
GRCh37:
Chr22:29999985-29999996
GRCh38:
Chr22:29603996-29604007
NF2Neurofibromatosis, type 2Uncertain significance
(Sep 30, 2019)
criteria provided, single submitterVCV000566704
34.
GRCh37:
Chr22:29999988
GRCh38:
Chr22:29603999
NF2M1Vnot provided, Neurofibromatosis, type 2Uncertain significance
(Nov 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000956856
35.
GRCh37:
Chr22:29999989
GRCh38:
Chr22:29604000
NF2M1Tnot providedLikely pathogenic
(Mar 5, 2018)
criteria provided, single submitterVCV000504454
36.
GRCh37:
Chr22:29999991
GRCh38:
Chr22:29604002
NF2A2SSchwannomatosis 1, Meningioma, familial, Neurofibromatosis, type 2
Uncertain significance
(Apr 27, 2019)
criteria provided, single submitterVCV000638486
37.
GRCh37:
Chr22:29999993
GRCh38:
Chr22:29604004
NF2Neurofibromatosis, type 2Likely benign
(Jun 5, 2019)
criteria provided, single submitterVCV001085863
38.
GRCh37:
Chr22:29999994
GRCh38:
Chr22:29604005
NF2A4fsNeurofibromatosis, type 2Pathogenic
(Jul 19, 2019)
criteria provided, single submitterVCV000962511
39.
GRCh37:
Chr22:29999996
GRCh38:
Chr22:29604007
NF2Neurofibromatosis, type 2Likely benign
(Feb 28, 2019)
criteria provided, single submitterVCV001118453
40.
GRCh37:
Chr22:29999999-30000000
GRCh38:
Chr22:29604010-29604011
NF2I5VNeurofibromatosis, type 2Uncertain significance
(Mar 22, 2019)
criteria provided, single submitterVCV000968053
41.
GRCh37:
Chr22:29999999
GRCh38:
Chr22:29604010
NF2Hereditary cancer-predisposing syndrome, not specified, not provided,
Neurofibromatosis, type 2
Benign/Likely benign
(Nov 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000237616
42.
GRCh37:
Chr22:30000002
GRCh38:
Chr22:29604013
NF2I5MNeurofibromatosis, type 2Uncertain significance
(Sep 13, 2019)
criteria provided, single submitterVCV000643742
43.
GRCh37:
Chr22:30000003
GRCh38:
Chr22:29604014
NF2A6PHereditary cancer-predisposing syndromeUncertain significance
(Aug 2, 2018)
criteria provided, single submitterVCV000819873
44.
GRCh37:
Chr22:30000004
GRCh38:
Chr22:29604015
NF2A6DNeurofibromatosis, type 2Uncertain significance
(Apr 17, 2019)
criteria provided, single submitterVCV000950781
45.
GRCh37:
Chr22:30000009
GRCh38:
Chr22:29604020
NF2R8CNeurofibromatosis, type 2Uncertain significance
(Aug 26, 2020)
criteria provided, single submitterVCV001036118
46.
GRCh37:
Chr22:30000012
GRCh38:
Chr22:29604023
NF2M9VHereditary cancer-predisposing syndromeUncertain significance
(Jun 1, 2018)
criteria provided, single submitterVCV000821551
47.
GRCh37:
Chr22:30000017
GRCh38:
Chr22:29604028
NF2F11fsnot providedPathogenic
(Feb 4, 2019)
criteria provided, single submitterVCV000818007
48.
GRCh37:
Chr22:30000019
GRCh38:
Chr22:29604030
NF2F11CNeurofibromatosis, type 2Uncertain significance
(Sep 20, 2020)
criteria provided, single submitterVCV001034701
49.
GRCh37:
Chr22:30000023
GRCh38:
Chr22:29604034
NF2not provided, Neurofibromatosis, type 2Conflicting interpretations of pathogenicity
(Dec 3, 2021)
criteria provided, conflicting interpretationsVCV001157795
50.
GRCh37:
Chr22:30000023-30000024
GRCh38:
Chr22:29604034-29604035
NF2L14fsnot providedPathogenic
(Aug 1, 2019)
criteria provided, single submitterVCV000870693
51.
GRCh37:
Chr22:30000030
GRCh38:
Chr22:29604041
NF2K15*Neurofibromatosis, type 2Pathogenic
(Oct 13, 2014)
no assertion criteria providedVCV000492891
52.
GRCh37:
Chr22:30000035
GRCh38:
Chr22:29604046
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Nov 28, 2020)
criteria provided, multiple submitters, no conflictsVCV000457918
53.
GRCh37:
Chr22:30000037
GRCh38:
Chr22:29604048
NF2K17RNeurofibromatosis, type 2Uncertain significance
(Jun 22, 2020)
criteria provided, single submitterVCV001056444
54.
GRCh37:
Chr22:30000043
GRCh38:
Chr22:29604054
NF2P19RHereditary cancer-predisposing syndromeUncertain significance
(Aug 13, 2018)
criteria provided, single submitterVCV000825907
55.
GRCh37:
Chr22:30000044
GRCh38:
Chr22:29604055
NF2Neurofibromatosis, type 2Likely benign
(Sep 10, 2020)
criteria provided, single submitterVCV001078598
56.
GRCh37:
Chr22:30000045
GRCh38:
Chr22:29604056
NF2K20*Neurofibromatosis, type 2Pathogenic
(Jun 16, 2019)
criteria provided, single submitterVCV000938925
57.
GRCh37:
Chr22:30000045
GRCh38:
Chr22:29604056
NF2K20QNeurofibromatosis, type 2Uncertain significance
(Dec 26, 2019)
criteria provided, single submitterVCV000838853
58.
GRCh37:
Chr22:30000045-30000048
GRCh38:
Chr22:29604056-29604059
NF2K20fsNeurofibromatosis, type 2Likely pathogenic
(Nov 1, 2016)
criteria provided, single submitterVCV000547703
59.
GRCh37:
Chr22:30000054
GRCh38:
Chr22:29604065
NF2T23PNeurofibromatosis, type 2Uncertain significance
(May 20, 2020)
criteria provided, single submitterVCV001035608
60.
GRCh37:
Chr22:30000054-30000055
GRCh38:
Chr22:29604065-29604066
NF2V24fsNeurofibromatosis, type 2Pathogenic
(Jul 10, 2018)
criteria provided, single submitterVCV000644553
61.
GRCh37:
Chr22:30000056
GRCh38:
Chr22:29604067
NF2Neurofibromatosis, type 2Likely benign
(Jan 18, 2020)
criteria provided, single submitterVCV001134875
62.
GRCh37:
Chr22:30000056
GRCh38:
Chr22:29604067
NF2Neurofibromatosis, type 2Uncertain significance
(May 29, 2020)
criteria provided, single submitterVCV000964500
63.
GRCh37:
Chr22:30000058
GRCh38:
Chr22:29604069
NF2V24AHereditary cancer-predisposing syndromeUncertain significance
(Mar 25, 2019)
criteria provided, single submitterVCV000826903
64.
GRCh37:
Chr22:30000059
GRCh38:
Chr22:29604070
NF2Neurofibromatosis, type 2Likely benign
(Feb 21, 2020)
criteria provided, single submitterVCV001104143
65.
GRCh37:
Chr22:30000059
GRCh38:
Chr22:29604070
NF2not provided, Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2
Likely benign
(Jan 17, 2020)
criteria provided, multiple submitters, no conflictsVCV000719886
66.
GRCh37:
Chr22:30000060
GRCh38:
Chr22:29604071
NF2R25GNeurofibromatosis, type 2Uncertain significance
(Mar 2, 2020)
criteria provided, single submitterVCV001057999
67.
GRCh37:
Chr22:30000060
GRCh38:
Chr22:29604071
NF2R25WNeurofibromatosis, type 2Uncertain significance
(May 30, 2019)
criteria provided, single submitterVCV000839589
68.
GRCh37:
Chr22:30000061
GRCh38:
Chr22:29604072
NF2R25KHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Nov 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000580062
69.
GRCh37:
Chr22:30000064
GRCh38:
Chr22:29604075
NF2I26Tnot providedUncertain significance
(Sep 6, 2016)
criteria provided, single submitterVCV000422184
70.
GRCh37:
Chr22:30000065
GRCh38:
Chr22:29604076
NF2Neurofibromatosis, type 2Likely benign
(Feb 3, 2020)
criteria provided, single submitterVCV001113514
71.
GRCh37:
Chr22:30000065
GRCh38:
Chr22:29604076
NF2I26MNeurofibromatosis, type 2Uncertain significance
(May 2, 2019)
criteria provided, single submitterVCV000851328
72.
GRCh37:
Chr22:30000071
GRCh38:
Chr22:29604082
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Feb 4, 2020)
criteria provided, multiple submitters, no conflictsVCV000822515
73.
GRCh37:
Chr22:30000072
GRCh38:
Chr22:29604083
NF2M29VNeurofibromatosis, type 2Uncertain significance
(Dec 11, 2019)
criteria provided, single submitterVCV000848840
74.
GRCh37:
Chr22:30000075
GRCh38:
Chr22:29604086
NF2D30NHereditary cancer-predisposing syndromeUncertain significance
(Jun 29, 2018)
criteria provided, single submitterVCV000822807
75.
GRCh37:
Chr22:30000076
GRCh38:
Chr22:29604087
NF2D30GNeurofibromatosis, type 2Uncertain significance
(Aug 2, 2020)
criteria provided, single submitterVCV001061022
76.
GRCh37:
Chr22:30000080
GRCh38:
Chr22:29604091
NF2Neurofibromatosis, type 2Uncertain significance
(Oct 7, 2020)
criteria provided, single submitterVCV001011330
77.
GRCh37:
Chr22:30000080-30000097
GRCh38:
Chr22:29604091-29604108
NF2not providedUncertain significance
(Mar 1, 2020)
criteria provided, single submitterVCV000916183
78.
GRCh37:
Chr22:30000081
GRCh38:
Chr22:29604092
NF2E32KHereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Uncertain significance
(Nov 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000823288
79.
GRCh37:
Chr22:30000087
GRCh38:
Chr22:29604098
NF2E34QNeurofibromatosis, type 2Uncertain significance
(Jun 21, 2020)
criteria provided, single submitterVCV001056223
80.
GRCh37:
Chr22:30000092
GRCh38:
Chr22:29604103
NF2Hereditary cancer-predisposing syndrome, Neurofibromatosis, type 2Likely benign
(Sep 20, 2020)
criteria provided, multiple submitters, no conflictsVCV000818315
81.
GRCh37:
Chr22:30000094
GRCh38:
Chr22:29604105
NF2N36IHereditary cancer-predisposing syndromeUncertain significance
(Mar 11, 2019)
criteria provided, single submitterVCV000818351
82.
GRCh37:
Chr22:30000094
GRCh38:
Chr22:29604105
NF2N36Snot provided, Neurofibromatosis, type 2, Hereditary cancer-predisposing syndrome,
not specified
Conflicting interpretations of pathogenicity
(Nov 7, 2021)
criteria provided, conflicting interpretationsVCV000134892
83.
GRCh37:
Chr22:30000098
GRCh38:
Chr22:29604109
NF2Neurofibromatosis, type 2Uncertain significance
(Sep 15, 2017)
criteria provided, single submitterVCV000527705
84.
GRCh37:
Chr22:30000102
GRCh38:
Chr22:29604113
NF2Neurofibromatosis, type 2Likely pathogenic
(Sep 13, 2020)
criteria provided, single submitterVCV001068058
85.
GRCh37:
Chr22:30000105
GRCh38:
Chr22:29604116
NF2Neurofibromatosis, type 2Uncertain significance
(Jul 25, 2019)
criteria provided, single submitterVCV000943289
86.
GRCh37:
Chr22:30000105
GRCh38:
Chr22:29604116
NF2Neurofibromatosis, type 2Uncertain significance
(Jan 1, 2019)
criteria provided, single submitterVCV000847088
87.
GRCh37:
Chr22:30000107
GRCh38:
Chr22:29604118
NF2Neurofibromatosis, type 2Uncertain significance
(Aug 9, 2020)
criteria provided, single submitterVCV000945221
88.
GRCh37:
Chr22:30000107
GRCh38:
Chr22:29604118
NF2Neurofibromatosis, type 2Uncertain significance
(Dec 1, 2016)
criteria provided, single submitterVCV000412208
89.
GRCh37:
Chr22:30000108
GRCh38:
Chr22:29604119
NF2Neurofibromatosis, type 2Likely benign
(Jul 13, 2020)
criteria provided, single submitterVCV001082160
90.
GRCh37:
Chr22:30000121
GRCh38:
Chr22:29604132
NF2not specifiedLikely benign
(Dec 20, 2016)
criteria provided, single submitterVCV000391964
91.
GRCh37:
Chr22:30000435-30000436
GRCh38:
Chr22:29604446-29604447
NF2not providedBenign
(Feb 27, 2021)
criteria provided, single submitterVCV001221963
92.
GRCh37:
Chr22:30024617
GRCh38:
Chr22:29628628
NF2Neurofibromatosis, type 2Uncertain significanceno assertion criteria providedVCV001050057
93.
GRCh37:
Chr22:30032484
GRCh38:
Chr22:29636495
NF2not providedBenign
(Jun 14, 2018)
criteria provided, single submitterVCV000668833
94.
GRCh37:
Chr22:30032730-30035211
GRCh38:
Chr22:29636741-29639222
NF2Neurofibromatosis, type 2Pathogenic
(Aug 28, 2018)
criteria provided, single submitterVCV000665033
95.
GRCh37:
Chr22:30032730-30057338
GRCh38:
Chr22:29636741-29661349
NF2Neurofibromatosis, type 2Pathogenic
(May 20, 2018)
criteria provided, single submitterVCV000583523
96.
GRCh37:
Chr22:30032734
GRCh38:
Chr22:29636745
NF2Neurofibromatosis, type 2Likely benign
(Jan 22, 2020)
criteria provided, single submitterVCV001112646
97.
GRCh37:
Chr22:30032736
GRCh38:
Chr22:29636747
NF2Neurofibromatosis, type 2Likely benign
(Feb 8, 2019)
criteria provided, single submitterVCV001102753
98.
GRCh37:
Chr22:30032739
GRCh38:
Chr22:29636750
NF2Neurofibromatosis, type 2Likely pathogenic
(Feb 4, 2021)
criteria provided, single submitterVCV000997868
99.
GRCh37:
Chr22:30032740
GRCh38:
Chr22:29636751
NF2M39VNeurofibromatosis, type 2Uncertain significance
(Jan 13, 2020)
criteria provided, single submitterVCV000966633
100.
GRCh37:
Chr22:30032747
GRCh38:
Chr22:29636758
NF2W41*Neurofibromatosis, type 2, not providedPathogenic
(Nov 7, 2021)
criteria provided, multiple submitters, no conflictsVCV000449433
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