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VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr22:17397498-51178264
GRCh38:
Chr22:16916608-50739836
LOC112695093, LOC114004364, LOC114827849, LOC121627932, LOC121627933, LOC121627954, LOC121627955, LOC125424380, LOC125424381, LOC125424397, LOC125424398, LOC125446214, LOC125446215, LOC125446230, LOC125446231, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC126863102, LOC126863103, LOC126863116, LOC126863117, LOC126863129, LOC126863140, LOC126863141, LOC126863154, LOC126863155, LOC126863156, LOC126863169, LOC126863170, LOC126863185, LOC126863186, LOC126863187, LOC284933, LOC339666, MED15, MEI1, MFNG, MIR1281, MIR1286, MIR3667, MIR3667HG, MIR648, MIR649, MIRLET7B, MIRLET7BHG, MIURF, MTMR3, MYH9, NPTXR, PDXP-DT, PES1, PKDREJ, PRAME, PRODH, RFPL1, RFPL1S, RPL3, RPS19BP1, RRP7A, SEC14L2, SEC14L3, SLC25A18, SNORD83B, SNRPD3, SNU13, SSTR3, SNORD83A, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SFI1, SGSM1, SGSM3, SEZ6L, SEZ6L-AS1, SF3A1, SH3BP1, SNORA92, SNORD125, SNORD139, SNAP29, SNORA50B, SNORA77B, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SCARF2, SNORD140, SNORD43, SEPTIN3, SEPTIN5, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RASD2, RASL10A, RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, SERHL2, SERPIND1, PRR14L, PRR34, PVALB, RAB36, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, RAC2, RANBP1, RANGAP1, RBFOX2, RBX1, PRR34-AS1, PRR5, PRR5-ARHGAP8, PIM3, PISD, PITPNB, PIWIL3, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, NUP50, NUP50-DT, OSBP2, PANX2, PARVB, PACSIN2, OSM, P2RX6, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PNPLA5, POLDIP3, POLR2F, PEX26, PHETA2, MYH9-DT, MYO18B, NCAPH2, NCF4, NCF4-AS1, NDUFA6, MPPED1, MPST, MRTFA-AS1, MTFP1, NIPSNAP1, NOA3, MYO18B-AS1, NAGA, NOL12, MLC1, MMP11, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIR659, MIR6816, MIR6818, MIR6819, MRPL40, MRTFA, MN1, MORC2, MIR378I, MIR3909, MIR5571, MIR5739, MIR6069, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MORC2-AS1, MOV10L1, MIR650, MIR658, MIR1306, MIR130B, MIR185, MIR3199-2, MIR3200, MIR3201, MIR6817, MIR301B, MIR3198-1, MGAT3, MGAT3-AS1, MICALL1, MIEF1, MIR12114, MIR1249, MIR3199-1, MIR33A, MIR3618, MIR3619, MIAT, MIATNB, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MICAL3, MIF, MIF-AS1, MIOX, LOC128772428, LOC128772429, LOC128772430, LOC128772433, LOC128772434, LOC128772435, LOC128772436, LOC128772437, LOC128772431, LOC128772432, LOC128772438, LOC284898, LOC284912, LOC339685, LOC126863171, LOC126863172, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863173, LOC126863174, LOC126863183, LOC126863184, LRRC74B, LRRC75B, LZTR1, LOC126863157, LOC126863158, LOC126863163, LOC126863164, LOC126863168, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863165, LOC126863166, LOC126863167, LOC126863188, LOC128706667, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC126863139, LOC126863151, LOC126863152, LOC126863153, LOC126863130, LOC126863135, LOC126863136, LOC126863131, LOC126863132, LOC126863122, LOC126863123, LOC126863124, LOC126863133, LOC126863134, LOC126863137, LOC126863138, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC126863106, LOC126863107, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863125, LOC126863126, LOC126863127, LOC126863128, LOC126863104, LOC126863105, LOC126863095, LOC126863099, LOC126863100, LOC126863101, LOC126863093, LOC126863094, LOC126863096, LOC126863097, LOC126863098, LOC126863108, LOC126863113, LOC126863114, LOC126863115, LOC125446234, LOC125446235, LOC125446236, LOC125446237, LOC125446238, LOC125446246, LOC125446247, LOC125446239, LOC125446243, LOC125446244, LOC125446248, LOC125446250, LOC125446253, LOC125446254, LOC125446260, LOC125446261, LOC125446216, LOC125446217, LOC125446218, LOC125446219, LOC125446220, LOC125446222, LOC125446223, LOC125446226, LOC125446227, LOC125446228, LOC125446229, LOC125446224, LOC125446225, LOC125446262, LOC126088082, LOC125424399, LOC125424400, LOC125424401, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125424402, LOC125424403, LOC125424404, LOC125424407, LOC125424408, LOC125424409, LOC125424410, LOC125446212, LOC125446213, LOC125446232, LOC125446233, LOC125424382, LOC125424383, LOC125424384, LOC125424387, LOC125424388, LOC125424389, LOC125424390, LOC125424391, LOC125424392, LOC125424386, LOC122455341, LOC114827861, LOC125424393, LOC125424394, LOC121627934, LOC125424395, LOC125424396, LOC121627956, LOC121853035, LOC121853036, LOC121853037, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC116309126, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121853038, LOC121853039, LOC121853047, LOC121853048, LOC121853040, LOC121853041, LOC121853042, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627939, LOC121627940, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627928, LOC116309130, LOC116309131, LOC121627929, LOC121627930, LOC121627931, LOC112695100, LOC112695101, LOC112695102, LOC112695106, LOC112695107, LOC114004362, LOC114004363, LOC121627951, LOC121627952, LOC121627953, LOC112695103, LOC112695104, LOC112695105, LOC112695108, LOC114004361, LOC112695079, LOC112695080, LOC112695081, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC116309127, LOC116309128, LOC116309129, LOC112695084, LOC112695085, LOC112695086, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, THAP7, TCF20, TCN2, TEF, TFIP11, TFIP11-DT, THAP7-AS1, THOC5, TIMP3, TMA7B, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRMU, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1, A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADORA2A-AS1, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCDC188, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CECR7, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CIMIP4, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EFCAB6-DT, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM247A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, GTSE1, GTSE1-DT, GUCD1, H1-0, HDAC10, HDHD5, HDHD5-AS1, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, HSERVPRODH, IFT27, IGL, IGLC1, IGLC2, IGLC3, IGLC7, IGLJ1, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLJ7, IGLL1, IGLL5, IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-10, IGLV3-12, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGLV3-27, IGLV3-32, IGLV3-9, IGLV4-3, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV5-52, IGLV6-57, IGLV7-43, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, KIAA1671, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC01399, LINC01422, LINC01521, LINC01589, LINC01634, LINC01637, LINC01638, LINC01639, LINC01640, LINC01643, LINC01644, LINC01651, LINC01656, LINC01659, LINC01664, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100506271, LOC100506472, LOC101927344, LOC101927551, LOC101929372, LOC102724378, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC106780824, LOC106799832, LOC106799835, LOC107181287, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771
See casesPathogenic
(Sep 18, 2013)
no assertion criteria provided
2.
GRCh37:
Chr22:17397633-51178213
GRCh38:
Chr22:16916743-50739785
PRR34, PRR34-AS1, PRR5, PRR5-ARHGAP8, PVALB, RAB36, RAC2, RANBP1, RANGAP1, RASD2, RASL10A, RBFOX2, RBX1, RFPL1, RFPL1S, RFPL2, RFPL3, RFPL3S, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RIMBP3C, RNF185, RNF215, RNU12, RPL3, RPS19BP1, RRP7A, RSPH14, RTCB, RTL10, RTL6, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SCUBE1-AS1, SCUBE1-AS2, SDF2L1, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELENOM, SELENOO, SELENOO-AS1, SEPT5-GP1BB, SEPTIN3, SEPTIN5, SERHL2, SERPIND1, SEZ6L, SEZ6L-AS1, SF3A1, SFI1, SGSM1, SGSM3, SH3BP1, SHANK3, SHISA8, SHISAL1, SLC16A8, SLC25A1, SLC25A17, SLC25A18, SLC2A11, SLC35E4, SLC5A1, SLC5A4, SLC5A4-AS1, SLC7A4, SMARCB1, SMC1B, SMDT1, SMIM45, SMTN, SNAP29, SNORA50B, SNORA77B, SNORA92, SNORD125, SNORD139, SNORD140, SNORD43, SNORD83A, SNORD83B, SNRPD3, SNU13, SOX10, SPECC1L, SPECC1L-ADORA2A, SREBF2, SREBF2-AS1, SRRD, SSTR3, ST13, SULT4A1, SUN2, SUSD2, SYCE3, SYN3, SYN3-AS1, SYNGR1, TAB1, TAFA5, TANGO2, TBC1D10A, TBC1D22A, TBC1D22A-AS1, TBX1, TCF20, TCN2, TEF, TFIP11, TFIP11-DT, THAP7, THAP7-AS1, THOC5, TIMP3, TMA7B, TMEM121B, TMEM184B, TMEM191B, TMEM191C, TMPRSS6, TNFRSF13C, TNRC6B, TNRC6B-DT, TOB2, TOM1, TOMM22, TRMU, TOP3B, TPST2, TPTEP2-CSNK1E, TRABD, TRIOBP, TRMT2A, TRU-TCA2-1, TSPO, TSSK2, TST, TTC28, TTC28-AS1, TTC38, TTLL1, TTLL1-AS1, TTLL12, TTLL8, TUBA8, TUBGCP6, TUG1, TXN2, TXNRD2, TYMP, UBE2L3, UFD1, UFD1-AS1, UPB1, UPK3A, UQCR10, USP18, USP41, VPREB1, VPREB3, WBP2NL, WNT7B, XBP1, XPNPEP3, XRCC6, YDJC, YPEL1, YWHAH, YWHAH-AS1, ZBED4, ZC3H7B, ZDHHC8, ZMAT5, ZNF280A, ZNF280B, ZNF70, ZNF74, ZNRF3, ZNRF3-AS1, A4GALT, ACO2, ACR, ADA2, ADM2, ADORA2A, ADORA2A-AS1, ADSL, AIFM3, ALG12, ANKRD54, AP1B1, APOBEC3A, APOBEC3B, APOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ASPHD2, ATF4, ATP5MGL, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BIK, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf31, C22orf39, C22orf42, CABIN1, CABP7, CACNA1I, CACNG2, CACNG2-DT, CARD10, CASTOR1, CBX6, CBX7, CBY1, CCDC116, CCDC117, CCDC134, CCDC157, CCDC188, CDC42EP1, CDC45, CDPF1, CECR2, CECR3, CECR7, CELSR1, CENPM, CERK, CHADL, CHCHD10, CHEK2, CHKB, CHKB-CPT1B, CHKB-DT, CIMAP1B, CIMIP4, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRKL, CRYBA4, CRYBB1, CRYBB2, CRYBB3, CSDC2, CSF2RB, CSNK1E, CYB5R3, CYP2D6, CYP2D7, CYTH4, DDT, DDTL, DDX17, DENND6B, DEPDC5, DERL3, DESI1, DGCR11, DGCR2, DGCR5, DGCR6, DGCR6L, DGCR8, DMC1, DNAJB7, DNAL4, DRG1, DRICH1, DUSP18, EFCAB6, EFCAB6-AS1, EFCAB6-DT, EIF3D, EIF3L, EIF4ENIF1, ELFN2, EMID1, ENTHD1, EP300, EP300-AS1, EPIC1, ESS2, EWSR1, FAM118A, FAM227A, FAM230A, FAM230B, FAM230D, FAM230E, FAM230F, FAM230G, FAM230H, FAM230I, FAM230J, FAM246A, FAM246B, FAM246C, FAM247A, FAM83F, FBLN1, FBXO7, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGA1, GGT1, GGT2, GGT5, GGTLC2, GGTLC3, GNAZ, GNB1L, GP1BB, GRAMD4, GRAP2, GRK3, GRK3-AS1, GSC2, GSTT2, GSTT2B, GSTT4, GTPBP1, GTSE1, GTSE1-DT, GUCD1, H1-0, HDAC10, HDHD5, HDHD5-AS1, HIC2, HIRA, HMGXB4, HMOX1, HORMAD2, HORMAD2-AS1, HPS4, HSCB, HSERVPRODH, IFT27, IGL, IGLC1, IGLC2, IGLC3, IGLC7, IGLJ1, IGLJ2, IGLJ3, IGLJ4, IGLJ5, IGLJ6, IGLJ7, IGLL1, IGLL5, IGLV1-36, IGLV1-40, IGLV1-44, IGLV1-47, IGLV1-50, IGLV1-51, IGLV10-54, IGLV11-55, IGLV2-11, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-33, IGLV2-8, IGLV3-1, IGLV3-10, IGLV3-12, IGLV3-16, IGLV3-19, IGLV3-21, IGLV3-22, IGLV3-25, IGLV3-27, IGLV3-32, IGLV3-9, IGLV4-3, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV5-52, IGLV6-57, IGLV7-43, IGLV7-46, IGLV8-61, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, JOSD1, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1656, KIAA1671, KIAA1671-AS1, KLHDC7B, KLHDC7B-DT, KLHL22, KREMEN1, L3MBTL2, L3MBTL2-AS1, LARGE-AS1, LARGE1, LGALS1, LGALS2, LHFPL7, LIF, LIF-AS1, LIF-AS2, LIMK2, LINC00207, LINC00229, LINC00528, LINC00895, LINC00896, LINC00898, LINC00899, LINC01310, LINC01311, LINC01315, LINC01399, LINC01422, LINC01521, LINC01589, LINC01634, LINC01637, LINC01638, LINC01639, LINC01640, LINC01643, LINC01644, LINC01651, LINC01656, LINC01659, LINC01664, LINC02554, LINC02556, LINC02557, LINC02558, LINC02559, LINC02885, LINC02891, LINC02939, LL22NC01-81G9.3, LL22NC03-63E9.3, LMF2, LOC100506271, LOC100506472, LOC101927344, LOC101927551, LOC101929372, LOC102724378, LOC105372977, LOC105372990, LOC105373031, LOC105373044, LOC105373064, LOC105373100, LOC106780824, LOC106799832, LOC106799835, LOC107181287, LOC107275221, LOC107275224, LOC107275225, LOC107832855, LOC107963947, LOC107963948, LOC107963951, LOC107963955, LOC107966121, LOC107966125, LOC107985535, LOC107985544, LOC108178988, LOC108281149, LOC108348030, LOC108353816, LOC108491832, LOC108491837, LOC108510655, LOC108660404, LOC110091768, LOC110120880, LOC110120882, LOC110120883, LOC110120888, LOC110120893, LOC110121337, LOC110121397, LOC110121413, LOC110121419, LOC110121474, LOC110121499, LOC110740340, LOC110740341, LOC111188158, LOC111188159, LOC111519898, LOC111556137, LOC111556159, LOC111562373, LOC111721701, LOC111721702, LOC111828506, LOC111828507, LOC111828508, LOC111828509, LOC112694764, LOC112694766, LOC112694767, LOC112694768, LOC112694770, LOC112694771, LOC112694772, LOC112695074, LOC112695075, LOC112695076, LOC112695077, LOC112695078, LOC112695079, LOC112695080, LOC112695081, LOC112695084, LOC112695085, LOC112695086, LOC112695087, LOC112695088, LOC112695089, LOC112695090, LOC112695092, LOC112695093, LOC112695094, LOC112695095, LOC112695096, LOC112695097, LOC112695098, LOC112695099, LOC112695100, LOC112695101, LOC112695102, LOC112695103, LOC112695104, LOC112695105, LOC112695106, LOC112695107, LOC112695108, LOC114004361, LOC114004362, LOC114004363, LOC114004364, LOC114827849, LOC114827861, LOC116309126, LOC116309127, LOC116309128, LOC116309129, LOC116309130, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC116309136, LOC116309137, LOC121627928, LOC121627929, LOC121627930, LOC121627931, LOC121627932, LOC121627933, LOC121627934, LOC121627935, LOC121627936, LOC121627937, LOC121627938, LOC121627939, LOC121627940, LOC121627941, LOC121627942, LOC121627943, LOC121627944, LOC121627945, LOC121627946, LOC121627947, LOC121627948, LOC121627949, LOC121627950, LOC121627951, LOC121627952, LOC121627953, LOC121627954, LOC121627955, LOC121627956, LOC121853035, LOC121853036, LOC121853037, LOC121853038, LOC121853039, LOC121853040, LOC121853041, LOC121853042, LOC121853043, LOC121853044, LOC121853045, LOC121853046, LOC121853047, LOC121853048, LOC122455341, LOC125424380, LOC125424381, LOC125424382, LOC125424383, LOC125424384, LOC125424386, LOC125424387, LOC125424388, LOC125424389, LOC125424390, LOC125424391, LOC125424392, LOC125424393, LOC125424394, LOC125424395, LOC125424396, LOC125424397, LOC125424398, LOC125424399, LOC125424400, LOC125424401, LOC125424402, LOC125424403, LOC125424404, LOC125424407, LOC125424408, LOC125424409, LOC125424410, LOC125424413, LOC125446207, LOC125446208, LOC125446209, LOC125446212, LOC125446213, LOC125446214, LOC125446215, LOC125446216, LOC125446217, LOC125446218, LOC125446219, LOC125446220, LOC125446222, LOC125446223, LOC125446224, LOC125446225, LOC125446226, LOC125446227, LOC125446228, LOC125446229, LOC125446230, LOC125446231, LOC125446232, LOC125446233, LOC125446234, LOC125446235, LOC125446236, LOC125446237, LOC125446238, LOC125446239, LOC125446243, LOC125446244, LOC125446246, LOC125446247, LOC125446248, LOC125446250, LOC125446253, LOC125446254, LOC125446255, LOC125446257, LOC125446258, LOC125446259, LOC125446260, LOC125446261, LOC125446262, LOC126088082, LOC126863093, LOC126863094, LOC126863095, LOC126863096, LOC126863097, LOC126863098, LOC126863099, LOC126863100, LOC126863101, LOC126863102, LOC126863103, LOC126863104, LOC126863105, LOC126863106, LOC126863107, LOC126863108, LOC126863109, LOC126863110, LOC126863111, LOC126863112, LOC126863113, LOC126863114, LOC126863115, LOC126863116, LOC126863117, LOC126863118, LOC126863119, LOC126863120, LOC126863121, LOC126863122, LOC126863123, LOC126863124, LOC126863125, LOC126863126, LOC126863127, LOC126863128, LOC126863129, LOC126863130, LOC126863131, LOC126863132, LOC126863133, LOC126863134, LOC126863135, LOC126863136, LOC126863137, LOC126863138, LOC126863139, LOC126863140, LOC126863141, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC126863151, LOC126863152, LOC126863153, LOC126863154, LOC126863155, LOC126863156, LOC126863157, LOC126863158, LOC126863159, LOC126863160, LOC126863161, LOC126863162, LOC126863163, LOC126863164, LOC126863165, LOC126863166, LOC126863167, LOC126863168, LOC126863169, LOC126863170, LOC126863171, LOC126863172, LOC126863173, LOC126863174, LOC126863175, LOC126863176, LOC126863177, LOC126863178, LOC126863179, LOC126863180, LOC126863181, LOC126863182, LOC126863183, LOC126863184, LOC126863185, LOC126863186, LOC126863187, LOC126863188, LOC128706667, LOC128772428, LOC128772429, LOC128772430, LOC128772431, LOC128772432, LOC128772433, LOC128772434, LOC128772435, LOC128772436, LOC128772437, LOC128772438, LOC284898, LOC284912, LOC284933, LOC339666, LOC339685, LRRC74B, LRRC75B, LZTR1, MAFF, MAPK1, MAPK11, MAPK12, MAPK8IP2, MB, MCAT, MCHR1, MCM5, MED15, MEI1, MFNG, MGAT3, MGAT3-AS1, MIAT, MIATNB, MICAL3, MICALL1, MIEF1, MIF, MIF-AS1, MIOX, MIR12114, MIR1249, MIR1281, MIR1286, MIR1306, MIR130B, MIR185, MIR301B, MIR3198-1, MIR3199-1, MIR3199-2, MIR3200, MIR3201, MIR33A, MIR3618, MIR3619, MIR3667, MIR3667HG, MIR378I, MIR3909, MIR3928, MIR4534, MIR4535, MIR4761, MIR4762, MIR4763, MIR4764, MIR4766, MIR548J, MIR5571, MIR5739, MIR6069, MIR648, MIR649, MIR650, MIR658, MIR659, MIR6816, MIR6817, MIR6818, MIR6819, MIR6820, MIR6821, MIR6889, MIR7109, MIRLET7A3, MIRLET7B, MIRLET7BHG, MIURF, MLC1, MMP11, MN1, MORC2, MORC2-AS1, MOV10L1, MPPED1, MPST, MRPL40, MRTFA, MRTFA-AS1, MTFP1, MTMR3, MYH9, MYH9-DT, MYO18B, MYO18B-AS1, NAGA, NCAPH2, NCF4, NCF4-AS1, NDUFA6, NDUFA6-DT, NEFH, NF2, NFAM1, NHIP, NIPSNAP1, NOA3, NOL12, NPTXR, NUP50, NUP50-DT, OSBP2, OSM, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PCAT14, PDGFB, PDXP, PDXP-DT, PES1, PEX26, PHETA2, PHF21B, PHF5A, PI4KA, PICK1, PIK3IP1, PIK3IP1-DT, PIM3, PISD, PITPNB, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PMM1, PNPLA3, PNPLA5, POLDIP3, POLR2F, POLR3H, PPARA, PPIL2, PPM1F, PPM1F-AS1, PPP6R2, PRAME, PRODH, PRR14L
See casesPathogenic
(Jul 30, 2010)
no assertion criteria provided
3.
GRCh37:
Chr22:21261514-37583387
GRCh38:
Chr22:20907226-37187347
ADORA2A, ADORA2A-AS1, AIFM3, AP1B1, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ASCC2, ASPHD2, BCR, BPIFC, C1QTNF6, C22orf15, C22orf31, C22orf42, CABIN1, CABP7, CACNG2, CACNG2-DT, CASTOR1, CCDC116, CCDC117, CCDC157, CHCHD10, CHEK2, 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
4.
GRCh37:
Chr22:35729986-39296182
GRCh38:
Chr22:35333993-38900177
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
GRCh37:
Chr22:36149394-36990020
GRCh38:
Chr22:35753347-36593973
See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr22:36614296-36707822
GRCh38:
Chr22:36218250-36311777
APOL1, APOL2, LOC126863137, MIR6819, MYH9See casesUncertain significance
(Sep 27, 2013)
no assertion criteria provided
7.
GRCh37:
Chr22:36642106-36709226
GRCh38:
Chr22:36246060-36313181
APOL1, LOC126863137, MIR6819, MYH9See casesUncertain significance
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr22:36677315
GRCh38:
Chr22:36281269
MYH9Nonsyndromic Hearing Loss, Dominant, MYH9-related disorderLikely benign
(Jun 14, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr22:36677320
GRCh38:
Chr22:36281274
MYH9Nonsyndromic Hearing Loss, Dominant, MYH9-related disorderLikely benign
(Jun 14, 2016)
criteria provided, single submitter
10.
GRCh37:
Chr22:36677384
GRCh38:
Chr22:36281338
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr22:36677385
GRCh38:
Chr22:36281339
MYH9not provided, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
Benign/Likely benign
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr22:36677400
GRCh38:
Chr22:36281354
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Benign
(Jan 12, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr22:36677510
GRCh38:
Chr22:36281464
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr22:36677521
GRCh38:
Chr22:36281475
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
15.
GRCh37:
Chr22:36677554
GRCh38:
Chr22:36281508
MYH9MYH9-related disorder, Nonsyndromic Hearing Loss, DominantBenign
(Jun 14, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr22:36677615
GRCh38:
Chr22:36281569
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr22:36677688
GRCh38:
Chr22:36281642
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr22:36677736
GRCh38:
Chr22:36281690
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr22:36677739
GRCh38:
Chr22:36281693
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr22:36677808
GRCh38:
Chr22:36281762
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Benign
(Jan 13, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr22:36677912
GRCh38:
Chr22:36281866
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr22:36677914
GRCh38:
Chr22:36281868
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Benign
(Jan 13, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr22:36677966
GRCh38:
Chr22:36281920
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr22:36677982
GRCh38:
Chr22:36281936
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(Oct 29, 2020)
criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr22:36678028
GRCh38:
Chr22:36281982
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign/Likely benign
(May 14, 2021)
criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr22:36678058
GRCh38:
Chr22:36282012
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr22:36678069
GRCh38:
Chr22:36282023
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
28.
GRCh37:
Chr22:36678075
GRCh38:
Chr22:36282029
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr22:36678118
GRCh38:
Chr22:36282072
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(May 13, 2021)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr22:36678125
GRCh38:
Chr22:36282079
MYH9not providedLikely benign
(Sep 27, 2021)
criteria provided, single submitter
31.
GRCh37:
Chr22:36678175
GRCh38:
Chr22:36282129
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr22:36678240
GRCh38:
Chr22:36282194
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderConflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr22:36678385
GRCh38:
Chr22:36282339
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderBenign/Likely benign
(Jan 13, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr22:36678389
GRCh38:
Chr22:36282343
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Benign/Likely benign
(Jan 12, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr22:36678402
GRCh38:
Chr22:36282356
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(Dec 24, 2018)
criteria provided, multiple submitters, no conflicts
36.
GRCh37:
Chr22:36678441
GRCh38:
Chr22:36282395
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
37.
GRCh37:
Chr22:36678453
GRCh38:
Chr22:36282407
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(Jul 27, 2018)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr22:36678466
GRCh38:
Chr22:36282420
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
39.
GRCh37:
Chr22:36678471
GRCh38:
Chr22:36282425
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign/Likely benign
(Jul 1, 2023)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr22:36678476
GRCh38:
Chr22:36282430
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(Jul 27, 2018)
criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr22:36678515-36678516
GRCh38:
Chr22:36282469-36282470
MYH9MYH9-related disorder, Nonsyndromic Hearing Loss, DominantUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
42.
GRCh37:
Chr22:36678519
GRCh38:
Chr22:36282473
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderConflicting interpretations of pathogenicity
(May 3, 2017)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr22:36678521
GRCh38:
Chr22:36282475
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr22:36678577
GRCh38:
Chr22:36282531
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(Oct 1, 2018)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr22:36678578
GRCh38:
Chr22:36282532
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
Benign
(Oct 1, 2018)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr22:36678607
GRCh38:
Chr22:36282561
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr22:36678633
GRCh38:
Chr22:36282587
MYH9MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17
Benign/Likely benign
(Jun 1, 2022)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr22:36678640
GRCh38:
Chr22:36282594
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
49.
GRCh37:
Chr22:36678641
GRCh38:
Chr22:36282595
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Uncertain significance
(Apr 27, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr22:36678701
GRCh38:
Chr22:36282655
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17Conflicting interpretations of pathogenicity
(Jan 12, 2018)
criteria provided, conflicting interpretations
51.
GRCh37:
Chr22:36678706
GRCh38:
Chr22:36282660
MYH9MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, not specified,
not provided
Conflicting interpretations of pathogenicity
(Dec 3, 2020)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr22:36678719
GRCh38:
Chr22:36282673
MYH9E1960KMYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17
Conflicting interpretations of pathogenicity
(Jan 10, 2023)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr22:36678720
GRCh38:
Chr22:36282674
MYH9Autosomal dominant nonsyndromic hearing loss 17, not provided, MYH9-related disorder,
Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, not specified
Benign/Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr22:36678743
GRCh38:
Chr22:36282697
MYH9D1952Hnot providedUncertain significance
(Dec 14, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr22:36678744
GRCh38:
Chr22:36282698
MYH9not specifiedLikely benign
(May 5, 2016)
criteria provided, single submitter
56.
GRCh37:
Chr22:36678746
GRCh38:
Chr22:36282700
MYH9A1951Tnot providedUncertain significance
(Jan 28, 2019)
criteria provided, single submitter
57.
GRCh37:
Chr22:36678755
GRCh38:
Chr22:36282709
MYH9D1948Hnot providedBenign
(Sep 22, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr22:36678764
GRCh38:
Chr22:36282718
MYH9E1945Knot providedUncertain significance
(Aug 22, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr22:36678765
GRCh38:
Chr22:36282719
MYH9not provided, not specifiedLikely benign
(Oct 6, 2022)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr22:36678768
GRCh38:
Chr22:36282722
MYH9not providedLikely benign
(Sep 1, 2019)
criteria provided, single submitter
61.
GRCh37:
Chr22:36678775
GRCh38:
Chr22:36282729
MYH9D1941fsnot providedPathogenic
(Sep 15, 2021)
criteria provided, single submitter
62.
GRCh37:
Chr22:36678776
GRCh38:
Chr22:36282730
MYH9D1941fsMacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossPathogenic
(Feb 1, 2005)
no assertion criteria provided
63.
GRCh37:
Chr22:36678779
GRCh38:
Chr22:36282733
MYH9G1940RMYH9-related disorder, not specified, not provided,
Autosomal dominant nonsyndromic hearing loss 17
Benign/Likely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr22:36678780
GRCh38:
Chr22:36282734
MYH9not specified, not providedLikely benign
(Dec 4, 2020)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr22:36678782
GRCh38:
Chr22:36282736
MYH9A1939TMYH9-related disorder, not specified, not provided,
Autosomal dominant nonsyndromic hearing loss 17, Focal segmental glomerulosclerosis
Benign/Likely benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr22:36678783
GRCh38:
Chr22:36282737
MYH9not providedLikely benign
(Sep 27, 2022)
criteria provided, multiple submitters, no conflicts
67.
GRCh37:
Chr22:36678789
GRCh38:
Chr22:36282743
MYH9G1938fsMYH9-related disorderLikely pathogenic
(Dec 12, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr22:36678790
GRCh38:
Chr22:36282744
MYH9R1936Qnot providedConflicting interpretations of pathogenicity
(Sep 15, 2022)
criteria provided, conflicting interpretations
69.
GRCh37:
Chr22:36678791
GRCh38:
Chr22:36282745
MYH9R1936WMacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss,
not specified, not provided
Uncertain significance
(Dec 5, 2022)
criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr22:36678792
GRCh38:
Chr22:36282746
MYH9not providedUncertain significance
(Dec 30, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr22:36678797
GRCh38:
Chr22:36282751
MYH9M1934fsMYH9-related disorderLikely pathogenic
(Dec 12, 2018)
criteria provided, single submitter
72.
GRCh37:
Chr22:36678800
GRCh38:
Chr22:36282754
MYH9R1933*MYH9-related disorder, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, not provided
Pathogenic
(Sep 13, 2022)
criteria provided, multiple submitters, no conflicts
73.
GRCh37:
Chr22:36678809
GRCh38:
Chr22:36282763
MYH9V1930LMacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossUncertain significance
(Jun 24, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr22:36678809
GRCh38:
Chr22:36282763
MYH9V1930Mnot providedLikely benign
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
75.
GRCh37:
Chr22:36678810
GRCh38:
Chr22:36282764
MYH9MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17,
not specified
Conflicting interpretations of pathogenicity
(Jul 1, 2023)
criteria provided, conflicting interpretations
76.
GRCh37:
Chr22:36678812
GRCh38:
Chr22:36282766
MYH9V1929fsnot providedLikely pathogenic
(Jan 1, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr22:36678816
GRCh38:
Chr22:36282770
MYH9not providedLikely benign
(May 12, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr22:36678816
GRCh38:
Chr22:36282770
MYH9MYH9-related disorder, not specified, not provided,
Atypical hemolytic-uremic syndrome, Autosomal dominant nonsyndromic hearing loss 17
Benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
79.
GRCh37:
Chr22:36678818-36678827
GRCh38:
Chr22:36282772-36282781
MYH9G1924fsMYH9-related disorderPathogenic
(Dec 12, 2018)
criteria provided, single submitter
80.
GRCh37:
Chr22:36678824
GRCh38:
Chr22:36282778
MYH9D1925Nnot providedUncertain significance
(Jan 18, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr22:36678824
GRCh38:
Chr22:36282778
MYH9D1925fsMacrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossPathogeniccriteria provided, single submitter
82.
GRCh37:
Chr22:36678828
GRCh38:
Chr22:36282782
MYH9Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorderUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
83.
GRCh37:
Chr22:36678832-36678833
GRCh38:
Chr22:36282786-36282787
MYH9not specifiedUncertain significance
(Feb 13, 2019)
criteria provided, single submitter
84.
GRCh37:
Chr22:36678834
GRCh38:
Chr22:36282788
MYH9MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant, not specified,
not provided, Atypical hemolytic-uremic syndrome
Benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
85.
GRCh37:
Chr22:36678836
GRCh38:
Chr22:36282790
MYH9not specified, MYH9-related disorder, not provided,
Autosomal dominant nonsyndromic hearing loss 17
Conflicting interpretations of pathogenicity
(Jun 1, 2018)
criteria provided, conflicting interpretations
86.
GRCh37:
Chr22:36678841
GRCh38:
Chr22:36282795
MYH9not specifiedLikely benign
(May 13, 2014)
criteria provided, single submitter
87.
GRCh37:
Chr22:36679058
GRCh38:
Chr22:36283012
MYH9not providedBenign
(Jun 29, 2018)
criteria provided, single submitter
88.
GRCh37:
Chr22:36679928
GRCh38:
Chr22:36283882
MYH9not providedLikely benign
(Jan 13, 2019)
criteria provided, single submitter
89.
GRCh37:
Chr22:36680119
GRCh38:
Chr22:36284073
MYH9not providedLikely benign
(Jul 16, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr22:36680124
GRCh38:
Chr22:36284078
MYH9not providedBenign
(Jan 16, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr22:36680130
GRCh38:
Chr22:36284084
MYH9Autosomal dominant nonsyndromic hearing loss 17, not provided, MYH9-related disorder,
Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Benign/Likely benign
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr22:36680131
GRCh38:
Chr22:36284085
MYH9not specifiedLikely benign
(Aug 23, 2017)
criteria provided, single submitter
93.
GRCh37:
Chr22:36680132
GRCh38:
Chr22:36284086
MYH9not specifiedLikely benigncriteria provided, single submitter
94.
GRCh37:
Chr22:36680137
GRCh38:
Chr22:36284091
MYH9Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing lossPathogeniccriteria provided, single submitter
95.
GRCh37:
Chr22:36680140
GRCh38:
Chr22:36284094
MYH9not provided, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, Autosomal dominant nonsyndromic hearing loss 17
Likely benign
(Jul 19, 2022)
criteria provided, multiple submitters, no conflicts
96.
GRCh37:
Chr22:36680144
GRCh38:
Chr22:36284098
MYH9not providedLikely benign
(Mar 9, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr22:36680162
GRCh38:
Chr22:36284116
MYH9not providedBenign/Likely benign
(Sep 7, 2022)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr22:36680168
GRCh38:
Chr22:36284122
MYH9not providedLikely benign
(Feb 19, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr22:36680183
GRCh38:
Chr22:36284137
MYH9not providedBenign
(Jun 16, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr22:36680186
GRCh38:
Chr22:36284140
MYH9not specifiedLikely benign
(Sep 8, 2013)
criteria provided, multiple submitters, no conflicts
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