| - 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 cases | Pathogenic (Sep 18, 2013) | no assertion criteria provided |
| - 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 cases | Pathogenic (Jul 30, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr22:21261514-37583387
- GRCh38:
- Chr22:20907226-37187347
| ADORA2A, ADORA2A-AS1, AIFM3, AP1B1, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, ASCC2, ASPHD2, BCR, BPIFC, C1QTNF6, C22orf15, C22orf31, C22orf42, CABIN1, CABP7, CACNG2, CACNG2-DT, CASTOR1, CCDC116, CCDC117, CCDC157, CHCHD10, CHEK2, 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 cases | Pathogenic (Nov 4, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr22:35729986-39296182
- GRCh38:
- Chr22:35333993-38900177
| ANKRD54, APOL1, APOL2, APOL3, APOL4, APOL5, APOL6, BAIAP2L2, C1QTNF6, C22orf23, CACNG2, CACNG2-DT, CARD10, CBX6, CBY1, CDC42EP1, CSF2RB, CSNK1E, CYTH4, DDX17, DMC1, DNAL4, EIF3D, EIF3L, ELFN2, FAM227A, FOXRED2, GALR3, GCAT, GGA1, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, LGALS1, LGALS2, LL22NC01-81G9.3, LOC100506271, LOC102724378, LOC105373031, LOC110120880, LOC110120882, LOC110120883, LOC110120893, LOC111188158, LOC111188159, LOC111519898, LOC111556159, LOC112695089, LOC112695090, LOC112695092, LOC114004362, LOC116309131, LOC116309132, LOC116309133, LOC116309134, LOC116309135, LOC121853041, LOC121853042, LOC121853043, LOC125446226, LOC125446227, LOC125446228, LOC125446229, LOC125446230, LOC125446231, LOC125446232, LOC125446233, LOC126863134, LOC126863135, LOC126863136, LOC126863137, LOC126863138, LOC126863139, LOC126863140, LOC126863141, LOC126863142, LOC126863143, LOC126863144, LOC126863145, LOC126863146, LOC126863147, LOC126863148, LOC126863149, LOC126863150, LOC128706667, LOC128772428, LOC128772429, LOC128772430, LOC128772431, LOC128772432, LOC128772433, LOC128772434, LOC128772435, LOC284912, MAFF, MB, MCM5, MFNG, MICALL1, MIR3909, MIR4534, MIR6069, MIR658, MIR659, MIR6819, MIR6820, MPST, MYH9, MYH9-DT, NCF4, NCF4-AS1, NOL12, NPTXR, PDXP, PDXP-DT, PICK1, PLA2G6, POLR2F, PVALB, RAC2, RASD2, RBFOX2, SH3BP1, SLC16A8, SNORA92, SOX10, SSTR3, SUN2, TEX33, TMEM184B, TMPRSS6, TOM1, TOMM22, TPTEP2-CSNK1E, TRIOBP, TST, TXN2 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36149394-36990020
- GRCh38:
- Chr22:35753347-36593973
| APOL1, APOL2, APOL3, APOL4, CACNG2, EIF3D, FOXRED2, LOC112695089, LOC121853042, LOC125446226, LOC125446227, LOC125446228, LOC126863135, LOC126863136, LOC126863137, LOC126863138, MIR6819, MYH9, MYH9-DT, RBFOX2, TXN2 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36614296-36707822
- GRCh38:
- Chr22:36218250-36311777
| APOL1, APOL2, LOC126863137, MIR6819, MYH9 | | See cases | Uncertain significance (Sep 27, 2013) | no assertion criteria provided |
| - GRCh37:
- Chr22:36642106-36709226
- GRCh38:
- Chr22:36246060-36313181
| APOL1, LOC126863137, MIR6819, MYH9 | | See cases | Uncertain significance (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677315
- GRCh38:
- Chr22:36281269
| MYH9 | | Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677320
- GRCh38:
- Chr22:36281274
| MYH9 | | Nonsyndromic Hearing Loss, Dominant, MYH9-related disorder | Likely benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677384
- GRCh38:
- Chr22:36281338
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677385
- GRCh38:
- Chr22:36281339
| MYH9 | | not provided, Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
| Benign/Likely benign (Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36677400
- GRCh38:
- Chr22:36281354
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677510
- GRCh38:
- Chr22:36281464
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677521
- GRCh38:
- Chr22:36281475
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677554
- GRCh38:
- Chr22:36281508
| MYH9 | | MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant | Benign (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677615
- GRCh38:
- Chr22:36281569
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677688
- GRCh38:
- Chr22:36281642
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677736
- GRCh38:
- Chr22:36281690
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677739
- GRCh38:
- Chr22:36281693
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677808
- GRCh38:
- Chr22:36281762
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677912
- GRCh38:
- Chr22:36281866
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677914
- GRCh38:
- Chr22:36281868
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677966
- GRCh38:
- Chr22:36281920
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36677982
- GRCh38:
- Chr22:36281936
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (Oct 29, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678028
- GRCh38:
- Chr22:36281982
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign/Likely benign (May 14, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678058
- GRCh38:
- Chr22:36282012
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678069
- GRCh38:
- Chr22:36282023
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678075
- GRCh38:
- Chr22:36282029
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678118
- GRCh38:
- Chr22:36282072
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (May 13, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678125
- GRCh38:
- Chr22:36282079
| MYH9 | | not provided | Likely benign (Sep 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678175
- GRCh38:
- Chr22:36282129
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678240
- GRCh38:
- Chr22:36282194
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678385
- GRCh38:
- Chr22:36282339
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Benign/Likely benign (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678389
- GRCh38:
- Chr22:36282343
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Benign/Likely benign (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678402
- GRCh38:
- Chr22:36282356
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (Dec 24, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678441
- GRCh38:
- Chr22:36282395
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678453
- GRCh38:
- Chr22:36282407
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (Jul 27, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678466
- GRCh38:
- Chr22:36282420
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678471
- GRCh38:
- Chr22:36282425
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign/Likely benign (Jul 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678476
- GRCh38:
- Chr22:36282430
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (Jul 27, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678515-36678516
- GRCh38:
- Chr22:36282469-36282470
| MYH9 | | MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant | Uncertain significance (Jun 14, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678519
- GRCh38:
- Chr22:36282473
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Conflicting interpretations of pathogenicity (May 3, 2017) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678521
- GRCh38:
- Chr22:36282475
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678577
- GRCh38:
- Chr22:36282531
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (Oct 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678578
- GRCh38:
- Chr22:36282532
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder, not provided
| Benign (Oct 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678607
- GRCh38:
- Chr22:36282561
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678633
- GRCh38:
- Chr22:36282587
| MYH9 | | MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17
| Benign/Likely benign (Jun 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678640
- GRCh38:
- Chr22:36282594
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678641
- GRCh38:
- Chr22:36282595
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Uncertain significance (Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678701
- GRCh38:
- Chr22:36282655
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17 | Conflicting interpretations of pathogenicity (Jan 12, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678706
- GRCh38:
- Chr22:36282660
| MYH9 | | MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17, not specified, not provided | Conflicting interpretations of pathogenicity (Dec 3, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678719
- GRCh38:
- Chr22:36282673
| MYH9 | E1960K | MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17
| Conflicting interpretations of pathogenicity (Jan 10, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678720
- GRCh38:
- Chr22:36282674
| MYH9 | | Autosomal 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 |
| - GRCh37:
- Chr22:36678743
- GRCh38:
- Chr22:36282697
| MYH9 | D1952H | not provided | Uncertain significance (Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678744
- GRCh38:
- Chr22:36282698
| MYH9 | | not specified | Likely benign (May 5, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678746
- GRCh38:
- Chr22:36282700
| MYH9 | A1951T | not provided | Uncertain significance (Jan 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678755
- GRCh38:
- Chr22:36282709
| MYH9 | D1948H | not provided | Benign (Sep 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678764
- GRCh38:
- Chr22:36282718
| MYH9 | E1945K | not provided | Uncertain significance (Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678765
- GRCh38:
- Chr22:36282719
| MYH9 | | not provided, not specified | Likely benign (Oct 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678768
- GRCh38:
- Chr22:36282722
| MYH9 | | not provided | Likely benign (Sep 1, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678775
- GRCh38:
- Chr22:36282729
| MYH9 | D1941fs | not provided | Pathogenic (Sep 15, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678776
- GRCh38:
- Chr22:36282730
| MYH9 | D1941fs | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Pathogenic (Feb 1, 2005) | no assertion criteria provided |
| - GRCh37:
- Chr22:36678779
- GRCh38:
- Chr22:36282733
| MYH9 | G1940R | MYH9-related disorder, not specified, not provided, Autosomal dominant nonsyndromic hearing loss 17 | Benign/Likely benign (Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678780
- GRCh38:
- Chr22:36282734
| MYH9 | | not specified, not provided | Likely benign (Dec 4, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678782
- GRCh38:
- Chr22:36282736
| MYH9 | A1939T | MYH9-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 |
| - GRCh37:
- Chr22:36678783
- GRCh38:
- Chr22:36282737
| MYH9 | | not provided | Likely benign (Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678789
- GRCh38:
- Chr22:36282743
| MYH9 | G1938fs | MYH9-related disorder | Likely pathogenic (Dec 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678790
- GRCh38:
- Chr22:36282744
| MYH9 | R1936Q | not provided | Conflicting interpretations of pathogenicity (Sep 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678791
- GRCh38:
- Chr22:36282745
| MYH9 | R1936W | Macrothrombocytopenia 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 |
| - GRCh37:
- Chr22:36678792
- GRCh38:
- Chr22:36282746
| MYH9 | | not provided | Uncertain significance (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678797
- GRCh38:
- Chr22:36282751
| MYH9 | M1934fs | MYH9-related disorder | Likely pathogenic (Dec 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678800
- GRCh38:
- Chr22:36282754
| MYH9 | R1933* | 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 |
| - GRCh37:
- Chr22:36678809
- GRCh38:
- Chr22:36282763
| MYH9 | V1930L | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Uncertain significance (Jun 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678809
- GRCh38:
- Chr22:36282763
| MYH9 | V1930M | not provided | Likely benign (Jul 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678810
- GRCh38:
- Chr22:36282764
| MYH9 | | MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17, not specified | Conflicting interpretations of pathogenicity (Jul 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678812
- GRCh38:
- Chr22:36282766
| MYH9 | V1929fs | not provided | Likely pathogenic (Jan 1, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678816
- GRCh38:
- Chr22:36282770
| MYH9 | | not provided | Likely benign (May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678816
- GRCh38:
- Chr22:36282770
| MYH9 | | MYH9-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 |
| - GRCh37:
- Chr22:36678818-36678827
- GRCh38:
- Chr22:36282772-36282781
| MYH9 | G1924fs | MYH9-related disorder | Pathogenic (Dec 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678824
- GRCh38:
- Chr22:36282778
| MYH9 | D1925N | not provided | Uncertain significance (Jan 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678824
- GRCh38:
- Chr22:36282778
| MYH9 | D1925fs | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678828
- GRCh38:
- Chr22:36282782
| MYH9 | | Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678832-36678833
- GRCh38:
- Chr22:36282786-36282787
| MYH9 | | not specified | Uncertain significance (Feb 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36678834
- GRCh38:
- Chr22:36282788
| MYH9 | | MYH9-related disorder, Nonsyndromic Hearing Loss, Dominant, not specified, not provided, Atypical hemolytic-uremic syndrome | Benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36678836
- GRCh38:
- Chr22:36282790
| MYH9 | | not specified, MYH9-related disorder, not provided, Autosomal dominant nonsyndromic hearing loss 17 | Conflicting interpretations of pathogenicity (Jun 1, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr22:36678841
- GRCh38:
- Chr22:36282795
| MYH9 | | not specified | Likely benign (May 13, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36679058
- GRCh38:
- Chr22:36283012
| MYH9 | | not provided | Benign (Jun 29, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36679928
- GRCh38:
- Chr22:36283882
| MYH9 | | not provided | Likely benign (Jan 13, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680119
- GRCh38:
- Chr22:36284073
| MYH9 | | not provided | Likely benign (Jul 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680124
- GRCh38:
- Chr22:36284078
| MYH9 | | not provided | Benign (Jan 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680130
- GRCh38:
- Chr22:36284084
| MYH9 | | Autosomal 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 |
| - GRCh37:
- Chr22:36680131
- GRCh38:
- Chr22:36284085
| MYH9 | | not specified | Likely benign (Aug 23, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680132
- GRCh38:
- Chr22:36284086
| MYH9 | | not specified | Likely benign | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680137
- GRCh38:
- Chr22:36284091
| MYH9 | | Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss | Pathogenic | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680140
- GRCh38:
- Chr22:36284094
| MYH9 | | not 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 |
| - GRCh37:
- Chr22:36680144
- GRCh38:
- Chr22:36284098
| MYH9 | | not provided | Likely benign (Mar 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680162
- GRCh38:
- Chr22:36284116
| MYH9 | | not provided | Benign/Likely benign (Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr22:36680168
- GRCh38:
- Chr22:36284122
| MYH9 | | not provided | Likely benign (Feb 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680183
- GRCh38:
- Chr22:36284137
| MYH9 | | not provided | Benign (Jun 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr22:36680186
- GRCh38:
- Chr22:36284140
| MYH9 | | not specified | Likely benign (Sep 8, 2013) | criteria provided, multiple submitters, no conflicts |