| - GRCh37:
- Chr10:101953972-134246301
- GRCh38:
- Chr10:100194215-132432797
| ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACTR1A, ADAM12, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ARL3, ARMH3, ARMS2, AS-PTPRE, AS3MT, ATE1, ATE1-AS1, ATP5MK, ATRNL1, BAG3, BBIP1, BCCIP, BLOC1S2, BNIP3, BORCS7, BORCS7-ASMT, BTBD16, BTRC, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, C10orf95, C10orf95-AS1, CACUL1, CALHM1, CALHM2, CALHM3, CASC2, CASP7, CCDC172, CCDC186, CFAP43, CFAP58, CFAP58-DT, CHST15, CHUK, CLRN3, CNNM2, COL17A1, CPXM2, CTBP2, CUEDC2, CUZD1, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPCD, DPYSL4, DUSP5, DUSP5-DT, EBF3, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, ELOVL3, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FBXL15, FBXW4, FGF8, FGFR2, FHIP2A, FOXI2, FRA10B, GBF1, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HMX2, HMX3, HPS6, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INA, INPP5F, INSYN2A, ITPRIP, ITPRIP-AS1, JAKMIP3, JAKMIP3-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, KCNK18, LBX1, LBX1-AS1, LDB1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01435, LINC01514, LINC01561, LINC02620, LINC02624, LINC02626, LINC02627, LINC02641, LINC02661, LINC02667, LINC02674, LINC02681, LINC03036, LINC03068, LOC101927692, LOC103344931, LOC105378479, LOC107984265, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120887, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121311, LOC110121334, LOC110121344, LOC110121396, LOC110121472, LOC110408762, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815961, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC128598885, LOC128772341, LOC283038, LOC728158, LRRC27, LZTS2, MCMBP, MFSD13A, MGMT, MIR1307, MIR146B, MIR2110, MIR3158-1, MIR3158-2, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR4295, MIR4296, MIR4297, MIR4482, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR608, MIR609, MIR6715A, MIR6715B, MIR936, MIR9851, MKI67, MMP21, MRPL43, MXI1, NANOS1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX1-2, NOLC1, NPM3, NPS, NRAP, NSMCE4A, NT5C2, OAT, OGA, OLMALINC, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDZD7, PDZD8, PITX3, PKD2L1, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPP2R2D, PPRC1, PRDX3, PRLHR, PSD, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, RPEL1, SCD, SEC23IP, SEC31B, SEMA4G, SFR1, SFXN2, SFXN3, SFXN4, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SLF2, SLK, SMC3, SMNDC1, SNORA12, SNORA19, SNORA87, SNORD158, SORCS1, SORCS3, SORCS3-AS1, SPADH, STK32C, STN1, SUFU, TACC2, TAF5, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TLX1, TLX1NB, TRIM8, TRUB1, TWNK, UROS, VAX1, VTI1A, VWA2, WBP1L, WDR11, WDR11-DT, WNT8B, XPNPEP1, ZDHHC6, ZRANB1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:102360249-135436092
- GRCh38:
- Chr10:100600492-133622588
| ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACTR1A, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARL3, ARMH3, ARMS2, AS-PTPRE, AS3MT, ATE1, ATE1-AS1, ATP5MK, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BORCS7, BORCS7-ASMT, BTBD16, BTRC, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, C10orf95, C10orf95-AS1, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP43, CFAP46, CFAP58, CFAP58-DT, CHST15, CLRN3, CNNM2, COL17A1, CPXM2, CTBP2, CUEDC2, CUZD1, CYP17A1, CYP17A1-AS1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPCD, DPYSL4, DUSP5, DUSP5-DT, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, ELOVL3, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FBXL15, FBXW4, FGF8, FGFR2, FHIP2A, FOXI2, FRA10B, FUOM, GBF1, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, GSTO1, GSTO2, HABP2, HEAT2, HMX2, HMX3, HPS6, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INA, INPP5A, INPP5F, INSYN2A, ITPRIP, ITPRIP-AS1, JAKMIP3, JAKMIP3-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, KCNK18, KNDC1, LBX1, LBX1-AS1, LDB1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01435, LINC01514, LINC01561, LINC02620, LINC02624, LINC02626, LINC02627, LINC02641, LINC02661, LINC02667, LINC02674, LINC02681, LINC02870, LINC03036, LINC03068, LOC101927692, LOC103344931, LOC105378479, LOC107984265, LOC107984282, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, LOC110120887, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110408762, LOC110599579, LOC110599585, LOC111501773, LOC111818958, LOC111818962, LOC111818963, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939913, LOC113939914, LOC113939915, LOC116216120, LOC116216121, LOC116216122, LOC116216123, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC126861106, LOC126861107, LOC128598885, LOC128772341, LOC283038, LOC728158, LRRC27, LZTS2, MCMBP, MFSD13A, MGMT, MIR1307, MIR146B, MIR202, MIR202HG, MIR2110, MIR3158-1, MIR3158-2, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4482, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR608, MIR609, MIR6715A, MIR6715B, MIR936, MIR9851, MKI67, MMP21, MRPL43, MTG1, MXI1, NANOS1, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX1-2, NKX6-2, NOLC1, NPM3, NPS, NRAP, NSMCE4A, NT5C2, OAT, OGA, PAOX, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDZD7, PDZD8, PITX3, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPP2R2D, PPRC1, PRAP1, PRDX3, PRLHR, PSD, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, RPEL1, SCART1, SEC23IP, SEMA4G, SFR1, SFXN2, SFXN3, SFXN4, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SLF2, SLK, SMC3, SMNDC1, SNORA19, SNORA87, SNORD158, SORCS1, SORCS3, SORCS3-AS1, SPADH, SPRN, STK32C, STN1, SUFU, SYCE1, TACC2, TAF5, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TLX1, TLX1NB, TRIM8, TRUB1, TUBGCP2, TWNK, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WBP1L, WDR11, WDR11-DT, XPNPEP1, ZDHHC6, ZNF511, ZNF511-PRAP1, ZRANB1 | | See cases | Pathogenic (Sep 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:109862345-135434178
- GRCh38:
- Chr10:108102587-133620674
| ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, DUSP5, DUSP5-DT, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FHIP2A, FOXI2, FRA10B, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, HABP2, HEAT2, HMX2, HMX3, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KCNK18, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02626, LINC02641, LINC02661, LINC02667, LINC02674, LINC02870, LINC03036, LINC03068, LOC101927692, LOC103344931, LOC105378479, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939914, LOC113939915, LOC116216121, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815968, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC126861106, LOC126861107, LOC128598885, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR2110, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4483, MIR4484, MIR4680, MIR4681, MIR4682, MIR548E, MIR6715A, MIR6715B, MIR9851, MKI67, MMP21, MTG1, MXI1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDCD4, PDCD4-AS1, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RBM20, RGS10, SCART1, SEC23IP, SFXN4, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SMC3, SMNDC1, SNORA19, SNORA87, SNORD158, SPADH, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, WDR11-DT, XPNPEP1, ZDHHC6, ZNF511, ZNF511-PRAP1, ZRANB1 | | See cases | Pathogenic (May 27, 2010) | no assertion criteria provided |
| - GRCh37:
- Chr10:113072857-135434178
- GRCh38:
- Chr10:111313099-133620674
| ABLIM1, ABRAXAS2, ACADSB, ACSL5, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ADRB1, AFAP1L2, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, ATRNL1, BAG3, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf82, C10orf88, C10orf90, CACUL1, CALY, CASC2, CASP7, CCDC172, CCDC186, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DCLRE1A, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FHIP2A, FOXI2, FUOM, GFRA1, GLRX3, GPAM, GPR26, GRK5, GRK5-IT1, HABP2, HMX2, HMX3, HSPA12A, HSPA12A-AS1, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KCNK18, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02626, LINC02641, LINC02667, LINC02674, LINC02870, LINC03036, LINC03068, LOC101927692, LOC103344931, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110120938, LOC110120952, LOC110121334, LOC110121344, LOC110121396, LOC110121444, LOC110121472, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939914, LOC113939915, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC126861106, LOC126861107, LOC128598885, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR2110, MIR3663, MIR3663HG, MIR378C, MIR3941, MIR3944, MIR4295, MIR4296, MIR4297, MIR4483, MIR4484, MIR4681, MIR4682, MIR6715A, MIR6715B, MIR9851, MKI67, MMP21, MTG1, NANOS1, NHLRC2, NKX1-2, NKX6-2, NPS, NRAP, NSMCE4A, OAT, PAOX, PDZD8, PLEKHA1, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RGS10, SCART1, SEC23IP, SFXN4, SHTN1, SLC18A2, SLC18A2-AS1, SNORA19, SNORA87, SNORD158, SPADH, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TCF7L2, TDRD1, TECTB, TEX36, TEX36-AS1, TIAL1, TRUB1, TUBGCP2, UROS, UTF1, VAX1, VENTX, VTI1A, VWA2, WDR11, WDR11-DT, ZDHHC6, ZNF511, ZNF511-PRAP1, ZRANB1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:114460945-122730130
- GRCh38:
- Chr10:112701186-120970617
| ABLIM1, ADRB1, AFAP1L2, ATRNL1, BAG3, C10orf82, CACUL1, CASC2, CASP7, CCDC172, CCDC186, DCLRE1A, DENND10, EIF3A, EMX2, EMX2OS, ENO4, FAM204A, FHIP2A, GFRA1, GRK5, GRK5-IT1, HABP2, HSPA12A, HSPA12A-AS1, INPP5F, KCNK18, LINC00867, LINC01561, LINC02626, LINC02674, LINC03036, LOC101927692, LOC103344931, LOC110120919, LOC110120938, LOC110120952, LOC110121334, LOC110121396, LOC110121472, LOC111875826, LOC111875827, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC113939914, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121815969, LOC121815970, LOC121815971, LOC121815972, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC124416919, LOC124416920, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, MCMBP, MIR2110, MIR3663, MIR3663HG, MIR4483, MIR4681, MIR4682, MIR9851, NANOS1, NHLRC2, NRAP, PDZD8, PLEKHS1, PLPP4, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRDX3, PRLHR, RAB11FIP2, RGS10, SEC23IP, SFXN4, SHTN1, SLC18A2, SLC18A2-AS1, SNORA19, SNORA87, SNORD158, TCF7L2, TDRD1, TIAL1, TRUB1, VAX1, VTI1A, VWA2, WDR11, WDR11-DT | | See cases | Likely pathogenic (May 12, 2011) | no assertion criteria provided |
| - GRCh37:
- Chr10:119626076-135367714
- GRCh38:
- Chr10:117866565-133554210
| ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, BAG3, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, CACUL1, CALY, CASC2, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DENND10, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, EIF3A, FAM204A, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FOXI2, FUOM, GLRX3, GPR26, GRK5, GRK5-IT1, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KNDC1, LHPP, LINC00601, LINC00867, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02641, LINC02667, LINC02870, LINC03036, LINC03068, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120919, LOC110120924, LOC110120928, LOC110121344, LOC110121396, LOC110121444, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875828, LOC111875829, LOC111875830, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939915, LOC121366084, LOC121366085, LOC121366086, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815970, LOC121815971, LOC121815972, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, LOC126861057, LOC126861058, LOC126861059, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, LOC126861070, LOC126861071, LOC126861072, LOC126861073, LOC126861074, LOC126861075, LOC126861076, LOC126861077, LOC126861078, LOC126861079, LOC126861080, LOC126861081, LOC126861082, LOC126861083, LOC126861084, LOC126861085, LOC126861086, LOC126861087, LOC126861088, LOC126861089, LOC126861090, LOC126861091, LOC126861092, LOC126861093, LOC126861094, LOC126861095, LOC126861096, LOC126861097, LOC126861098, LOC126861099, LOC126861100, LOC126861101, LOC126861102, LOC126861103, LOC126861104, LOC126861105, LOC126861106, LOC126861107, LOC128598885, LOC283038, LOC728158, LRRC27, MCMBP, MGMT, MIR202, MIR202HG, MIR378C, MIR3941, MIR3944, MIR4296, MIR4297, MIR4484, MIR4681, MIR4682, MKI67, MMP21, MTG1, NANOS1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PLPP4, PPP2R2D, PRAP1, PRDX3, PRLHR, PSTK, PTPRE, PWWP2B, RAB11FIP2, RGS10, SCART1, SEC23IP, SFXN4, SNORA19, SPADH, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TEX36, TEX36-AS1, TIAL1, TUBGCP2, UROS, UTF1, VENTX, WDR11, WDR11-DT, ZNF511, ZNF511-PRAP1, ZRANB1 | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121032524-124876906
- GRCh38:
- Chr10:119273012-123117390
| ACADSB, ARMS2, ATE1, ATE1-AS1, BAG3, BTBD16, C10orf120, C10orf88, CUZD1, DMBT1, FAM24A, FAM24B, FAM24B-CUZD1, FGFR2, GRK5, HTRA1, IKZF5, INPP5F, LINC01153, LINC01561, LOC110120851, LOC110121344, LOC111818958, LOC111818962, LOC111875830, LOC111875831, LOC113939915, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, MCMBP, MIR3941, MIR4681, MIR4682, NSMCE4A, PLEKHA1, PLPP4, PSTK, RGS10, SEC23IP, SPADH, TACC2, TIAL1, WDR11, WDR11-DT | | See cases | Pathogenic (Aug 12, 2011) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410645
- GRCh38:
- Chr10:119651133
| BAG3 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410670
- GRCh38:
- Chr10:119651158
| BAG3 | | not provided | Benign (Jun 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410829
- GRCh38:
- Chr10:119651317
| BAG3 | | not provided | Benign (Jun 16, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410869
- GRCh38:
- Chr10:119651357
| BAG3 | | Myofibrillar myopathy 6, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH | Uncertain significance (Aug 11, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121410882-121429689
- GRCh38:
- Chr10:119651370-119670177
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Sep 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410894
- GRCh38:
- Chr10:119651382
| BAG3 | | not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121410895
- GRCh38:
- Chr10:119651383
| BAG3 | | not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121410903
- GRCh38:
- Chr10:119651391
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410903
- GRCh38:
- Chr10:119651391
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121410904
- GRCh38:
- Chr10:119651392
| BAG3 | | not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Conflicting interpretations of pathogenicity (Jun 26, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121410917
- GRCh38:
- Chr10:119651405
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121410980
- GRCh38:
- Chr10:119651468
| BAG3 | | not provided | Likely benign (Jul 7, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411033
- GRCh38:
- Chr10:119651521
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Nov 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411060
- GRCh38:
- Chr10:119651548
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411093
- GRCh38:
- Chr10:119651581
| BAG3 | | not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Conflicting interpretations of pathogenicity (Mar 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121411101
- GRCh38:
- Chr10:119651589
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411102
- GRCh38:
- Chr10:119651590
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411138
- GRCh38:
- Chr10:119651626
| BAG3 | | not specified | Benign (Sep 2, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411168-121436814
- GRCh38:
- Chr10:119651656-119677302
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Dec 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411170
- GRCh38:
- Chr10:119651658
| BAG3 | | not specified, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
| Conflicting interpretations of pathogenicity (Jan 13, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121411171
- GRCh38:
- Chr10:119651659
| BAG3 | | not specified, not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Conflicting interpretations of pathogenicity (Jul 4, 2020) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121411184
- GRCh38:
- Chr10:119651672
| BAG3 | | Cardiovascular phenotype, not specified, not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Conflicting interpretations of pathogenicity (Apr 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121411186
- GRCh38:
- Chr10:119651674
| BAG3 | | Dilated cardiomyopathy 1HH | Uncertain significance (Apr 11, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411188
- GRCh38:
- Chr10:119651676
| BAG3 | M1L | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Oct 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411189
- GRCh38:
- Chr10:119651677
| BAG3 | M1R | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Aug 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411192
- GRCh38:
- Chr10:119651680
| BAG3 | S2N | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411194
- GRCh38:
- Chr10:119651682
| BAG3 | A3T | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Feb 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411194
- GRCh38:
- Chr10:119651682
| BAG3 | A3S | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411200
- GRCh38:
- Chr10:119651688
| BAG3 | T5A | Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not specified | Conflicting interpretations of pathogenicity (Aug 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121411202
- GRCh38:
- Chr10:119651690
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411206
- GRCh38:
- Chr10:119651694
| BAG3 | S7P | Cardiovascular phenotype | Uncertain significance (Aug 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411207
- GRCh38:
- Chr10:119651695
| BAG3 | S7L | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Apr 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411207
- GRCh38:
- Chr10:119651695
| BAG3 | S7* | not provided | Likely pathogenic (Jan 2, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411209
- GRCh38:
- Chr10:119651697
| BAG3 | P8S | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411212
- GRCh38:
- Chr10:119651700
| BAG3 | M9V | Cardiovascular phenotype, not specified, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, not provided | Benign/Likely benign (Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411215
- GRCh38:
- Chr10:119651703
| BAG3 | M10V | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Feb 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411216-121411222
- GRCh38:
- Chr10:119651704-119651710
| BAG3 | M10fs | Cardiovascular phenotype | Pathogenic (Dec 30, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411217
- GRCh38:
- Chr10:119651705
| BAG3 | M10I | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411217
- GRCh38:
- Chr10:119651705
| BAG3 | M10I | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411219
- GRCh38:
- Chr10:119651707
| BAG3 | Q11L | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Nov 4, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411221
- GRCh38:
- Chr10:119651709
| BAG3 | V12M | not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Uncertain significance (Jul 11, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411223-121411224
- GRCh38:
- Chr10:119651711-119651712
| BAG3 | S14fs | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Pathogenic (Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411223
- GRCh38:
- Chr10:119651711
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Apr 21, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411228
- GRCh38:
- Chr10:119651716
| BAG3 | S14F | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
| Uncertain significance (Jul 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411233
- GRCh38:
- Chr10:119651721
| BAG3 | N16D | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411236
- GRCh38:
- Chr10:119651724
| BAG3 | G17R | not specified, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided | Uncertain significance (Jun 28, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411237
- GRCh38:
- Chr10:119651725
| BAG3 | G17A | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411239
- GRCh38:
- Chr10:119651727
| BAG3 | D18N | not provided | Uncertain significance (May 23, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411241
- GRCh38:
- Chr10:119651729
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Nov 22, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411242
- GRCh38:
- Chr10:119651730
| BAG3 | R19C | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Primary dilated cardiomyopathy
| Uncertain significance (Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411242
- GRCh38:
- Chr10:119651730
| BAG3 | R19S | not specified | Uncertain significance (Jan 15, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411245
- GRCh38:
- Chr10:119651733
| BAG3 | D20N | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Aug 26, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411248
- GRCh38:
- Chr10:119651736
| BAG3 | P21A | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411249
- GRCh38:
- Chr10:119651737
| BAG3 | P21R | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411253-121411254
- GRCh38:
- Chr10:119651741-119651742
| BAG3 | G25fs | Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, not provided | Pathogenic/Likely pathogenic (Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411254
- GRCh38:
- Chr10:119651742
| BAG3 | P23S | Cardiovascular phenotype, not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Conflicting interpretations of pathogenicity (Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr10:121411254
- GRCh38:
- Chr10:119651742
| BAG3 | G25fs | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Primary dilated cardiomyopathy
| Pathogenic/Likely pathogenic (Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411255
- GRCh38:
- Chr10:119651743
| BAG3 | P23L | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411256
- GRCh38:
- Chr10:119651744
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Jan 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411257
- GRCh38:
- Chr10:119651745
| BAG3 | P24S | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Aug 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411258
- GRCh38:
- Chr10:119651746
| BAG3 | P24R | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411259
- GRCh38:
- Chr10:119651747
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Oct 13, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411262
- GRCh38:
- Chr10:119651750
| BAG3 | | Cardiovascular phenotype | Likely benign (Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411263
- GRCh38:
- Chr10:119651751
| BAG3 | W26G | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Jun 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411264
- GRCh38:
- Chr10:119651752
| BAG3 | W26* | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype, not provided, Primary dilated cardiomyopathy | Pathogenic/Likely pathogenic (Aug 16, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411275
- GRCh38:
- Chr10:119651763
| BAG3 | I30V | Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Uncertain significance (Jun 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411282-121411283
- GRCh38:
- Chr10:119651770-119651771
| BAG3 | Q33fs | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Pathogenic (Jun 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411282
- GRCh38:
- Chr10:119651770
| BAG3 | P32L | not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype | Uncertain significance (Nov 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411283
- GRCh38:
- Chr10:119651771
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Likely benign (Feb 6, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411283
- GRCh38:
- Chr10:119651771
| BAG3 | | not specified, not provided, Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Benign/Likely benign (Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411286
- GRCh38:
- Chr10:119651774
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Likely benign (Nov 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411286
- GRCh38:
- Chr10:119651774
| BAG3 | Q33H | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Sep 18, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411286-121411293
- GRCh38:
- Chr10:119651774-119651781
| BAG3 | T34fs | not provided, Primary dilated cardiomyopathy | Likely pathogenic (Oct 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411288
- GRCh38:
- Chr10:119651776
| BAG3 | T34I | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411289
- GRCh38:
- Chr10:119651777
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Apr 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411290
- GRCh38:
- Chr10:119651778
| BAG3 | G35S | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Dec 3, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411290
- GRCh38:
- Chr10:119651778
| BAG3 | G35C | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411291
- GRCh38:
- Chr10:119651779
| BAG3 | G35D | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411292
- GRCh38:
- Chr10:119651780
| BAG3 | | not specified | Likely benign (Nov 10, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411295
- GRCh38:
- Chr10:119651783
| BAG3 | W36* | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype
| Pathogenic/Likely pathogenic (Nov 14, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411296
- GRCh38:
- Chr10:119651784
| BAG3 | P37S | not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Uncertain significance (Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411298
- GRCh38:
- Chr10:119651786
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411298-121411300
- GRCh38:
- Chr10:119651786-119651788
| BAG3 | F39del | not provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
| Uncertain significance (Sep 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411298
- GRCh38:
- Chr10:119651786
| BAG3 | | not specified, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Likely benign (Dec 18, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411301
- GRCh38:
- Chr10:119651789
| BAG3 | | not specified | Likely benign (Jan 21, 2014) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411302
- GRCh38:
- Chr10:119651790
| BAG3 | F39I | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411303
- GRCh38:
- Chr10:119651791
| BAG3 | F39S | Cardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
| Uncertain significance (Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr10:121411304
- GRCh38:
- Chr10:119651792
| BAG3 | | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Likely benign (Jul 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411309
- GRCh38:
- Chr10:119651797
| BAG3 | D41G | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Oct 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411312
- GRCh38:
- Chr10:119651800
| BAG3 | H42R | Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6 | Uncertain significance (Jan 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411313
- GRCh38:
- Chr10:119651801
| BAG3 | H42Q | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Uncertain significance (Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411316
- GRCh38:
- Chr10:119651804
| BAG3 | | Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH | Likely benign (May 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr10:121411319
- GRCh38:
- Chr10:119651807
| BAG3 | | Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
| Likely benign (Sep 29, 2021) | criteria provided, multiple submitters, no conflicts |