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Items: 1 to 100 of 961

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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 casesPathogenic
(Sep 12, 2011)
no assertion criteria provided
3.
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 casesPathogenic
(May 27, 2010)
no assertion criteria provided
4.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
5.
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 casesLikely pathogenic
(May 12, 2011)
no assertion criteria provided
6.
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 casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr10:121032524-124876906
GRCh38:
Chr10:119273012-123117390
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
8.
GRCh37:
Chr10:121410645
GRCh38:
Chr10:119651133
BAG3not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr10:121410670
GRCh38:
Chr10:119651158
BAG3not providedBenign
(Jun 18, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr10:121410829
GRCh38:
Chr10:119651317
BAG3not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr10:121410869
GRCh38:
Chr10:119651357
BAG3Myofibrillar myopathy 6, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH,
Dilated cardiomyopathy 1HH
Uncertain significance
(Aug 11, 2021)
criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr10:121410882-121429689
GRCh38:
Chr10:119651370-119670177
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Sep 2, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:121410894
GRCh38:
Chr10:119651382
BAG3not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr10:121410895
GRCh38:
Chr10:119651383
BAG3not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
15.
GRCh37:
Chr10:121410903
GRCh38:
Chr10:119651391
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr10:121410903
GRCh38:
Chr10:119651391
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr10:121410904
GRCh38:
Chr10:119651392
BAG3not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Conflicting interpretations of pathogenicity
(Jun 26, 2018)
criteria provided, conflicting interpretations
18.
GRCh37:
Chr10:121410917
GRCh38:
Chr10:119651405
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHConflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
19.
GRCh37:
Chr10:121410980
GRCh38:
Chr10:119651468
BAG3not providedLikely benign
(Jul 7, 2018)
criteria provided, single submitter
20.
GRCh37:
Chr10:121411033
GRCh38:
Chr10:119651521
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Myofibrillar myopathy 6,
Dilated cardiomyopathy 1HH
Uncertain significance
(Nov 20, 2021)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:121411060
GRCh38:
Chr10:119651548
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
22.
GRCh37:
Chr10:121411093
GRCh38:
Chr10:119651581
BAG3not provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Conflicting interpretations of pathogenicity
(Mar 1, 2023)
criteria provided, conflicting interpretations
23.
GRCh37:
Chr10:121411101
GRCh38:
Chr10:119651589
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr10:121411102
GRCh38:
Chr10:119651590
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
25.
GRCh37:
Chr10:121411138
GRCh38:
Chr10:119651626
BAG3not specifiedBenign
(Sep 2, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr10:121411168-121436814
GRCh38:
Chr10:119651656-119677302
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Dec 27, 2017)
criteria provided, single submitter
27.
GRCh37:
Chr10:121411170
GRCh38:
Chr10:119651658
BAG3not specified, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
Conflicting interpretations of pathogenicity
(Jan 13, 2018)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr10:121411171
GRCh38:
Chr10:119651659
BAG3not specified, not provided, Dilated cardiomyopathy 1HH,
Myofibrillar myopathy 6
Conflicting interpretations of pathogenicity
(Jul 4, 2020)
criteria provided, conflicting interpretations
29.
GRCh37:
Chr10:121411184
GRCh38:
Chr10:119651672
BAG3Cardiovascular phenotype, not specified, not provided,
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
Conflicting interpretations of pathogenicity
(Apr 27, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr10:121411186
GRCh38:
Chr10:119651674
BAG3Dilated cardiomyopathy 1HHUncertain significance
(Apr 11, 2018)
criteria provided, single submitter
31.
GRCh37:
Chr10:121411188
GRCh38:
Chr10:119651676
BAG3M1LMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr10:121411189
GRCh38:
Chr10:119651677
BAG3M1RMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
33.
GRCh37:
Chr10:121411192
GRCh38:
Chr10:119651680
BAG3S2NDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
34.
GRCh37:
Chr10:121411194
GRCh38:
Chr10:119651682
BAG3A3TDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Feb 27, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:121411194
GRCh38:
Chr10:119651682
BAG3A3SDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr10:121411200
GRCh38:
Chr10:119651688
BAG3T5ADilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6,
not specified
Conflicting interpretations of pathogenicity
(Aug 13, 2022)
criteria provided, conflicting interpretations
37.
GRCh37:
Chr10:121411202
GRCh38:
Chr10:119651690
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Mar 18, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr10:121411206
GRCh38:
Chr10:119651694
BAG3S7PCardiovascular phenotypeUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr10:121411207
GRCh38:
Chr10:119651695
BAG3S7LMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Apr 15, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:121411207
GRCh38:
Chr10:119651695
BAG3S7*not providedLikely pathogenic
(Jan 2, 2019)
criteria provided, single submitter
41.
GRCh37:
Chr10:121411209
GRCh38:
Chr10:119651697
BAG3P8SMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Sep 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:121411212
GRCh38:
Chr10:119651700
BAG3M9VCardiovascular phenotype, not specified, Myofibrillar myopathy 6,
Dilated cardiomyopathy 1HH, not provided
Benign/Likely benign
(Nov 4, 2022)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr10:121411215
GRCh38:
Chr10:119651703
BAG3M10VMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Feb 18, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:121411216-121411222
GRCh38:
Chr10:119651704-119651710
BAG3M10fsCardiovascular phenotypePathogenic
(Dec 30, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr10:121411217
GRCh38:
Chr10:119651705
BAG3M10IMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:121411217
GRCh38:
Chr10:119651705
BAG3M10IDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Mar 19, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:121411219
GRCh38:
Chr10:119651707
BAG3Q11LDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Nov 4, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr10:121411221
GRCh38:
Chr10:119651709
BAG3V12Mnot provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Uncertain significance
(Jul 11, 2022)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr10:121411223-121411224
GRCh38:
Chr10:119651711-119651712
BAG3S14fsMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHPathogenic
(Jul 5, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:121411223
GRCh38:
Chr10:119651711
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Apr 21, 2020)
criteria provided, single submitter
51.
GRCh37:
Chr10:121411228
GRCh38:
Chr10:119651716
BAG3S14FDilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Cardiovascular phenotype
Uncertain significance
(Jul 15, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:121411233
GRCh38:
Chr10:119651721
BAG3N16DMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:121411236
GRCh38:
Chr10:119651724
BAG3G17Rnot specified, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6,
not provided
Uncertain significance
(Jun 28, 2022)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr10:121411237
GRCh38:
Chr10:119651725
BAG3G17ADilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Jun 14, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr10:121411239
GRCh38:
Chr10:119651727
BAG3D18Nnot providedUncertain significance
(May 23, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr10:121411241
GRCh38:
Chr10:119651729
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Nov 22, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr10:121411242
GRCh38:
Chr10:119651730
BAG3R19CDilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Primary dilated cardiomyopathy
Uncertain significance
(Aug 30, 2021)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:121411242
GRCh38:
Chr10:119651730
BAG3R19Snot specifiedUncertain significance
(Jan 15, 2022)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:121411245
GRCh38:
Chr10:119651733
BAG3D20NDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Aug 26, 2021)
criteria provided, single submitter
60.
GRCh37:
Chr10:121411248
GRCh38:
Chr10:119651736
BAG3P21AMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:121411249
GRCh38:
Chr10:119651737
BAG3P21RMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Feb 4, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:121411253-121411254
GRCh38:
Chr10:119651741-119651742
BAG3G25fsCardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6,
not provided
Pathogenic/Likely pathogenic
(Jun 20, 2022)
criteria provided, multiple submitters, no conflicts
63.
GRCh37:
Chr10:121411254
GRCh38:
Chr10:119651742
BAG3P23SCardiovascular phenotype, not provided, Myofibrillar myopathy 6,
Dilated cardiomyopathy 1HH
Conflicting interpretations of pathogenicity
(Nov 4, 2022)
criteria provided, conflicting interpretations
64.
GRCh37:
Chr10:121411254
GRCh38:
Chr10:119651742
BAG3G25fsDilated cardiomyopathy 1HH, Myofibrillar myopathy 6, Primary dilated cardiomyopathy
Pathogenic/Likely pathogenic
(Mar 18, 2022)
criteria provided, multiple submitters, no conflicts
65.
GRCh37:
Chr10:121411255
GRCh38:
Chr10:119651743
BAG3P23LMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Jun 22, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:121411256
GRCh38:
Chr10:119651744
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Jan 3, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr10:121411257
GRCh38:
Chr10:119651745
BAG3P24SDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Aug 21, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr10:121411258
GRCh38:
Chr10:119651746
BAG3P24RMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr10:121411259
GRCh38:
Chr10:119651747
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Oct 13, 2021)
criteria provided, single submitter
70.
GRCh37:
Chr10:121411262
GRCh38:
Chr10:119651750
BAG3Cardiovascular phenotypeLikely benign
(Sep 13, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:121411263
GRCh38:
Chr10:119651751
BAG3W26GMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Jun 20, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr10:121411264
GRCh38:
Chr10:119651752
BAG3W26*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
73.
GRCh37:
Chr10:121411275
GRCh38:
Chr10:119651763
BAG3I30VCardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Uncertain significance
(Jun 13, 2022)
criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:121411282-121411283
GRCh38:
Chr10:119651770-119651771
BAG3Q33fsMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHPathogenic
(Jun 18, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:121411282
GRCh38:
Chr10:119651770
BAG3P32Lnot provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6,
Cardiovascular phenotype
Uncertain significance
(Nov 10, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:121411283
GRCh38:
Chr10:119651771
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHLikely benign
(Feb 6, 2020)
criteria provided, single submitter
77.
GRCh37:
Chr10:121411283
GRCh38:
Chr10:119651771
BAG3not specified, not provided, Cardiovascular phenotype,
Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
Benign/Likely benign
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:121411286
GRCh38:
Chr10:119651774
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHLikely benign
(Nov 1, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr10:121411286
GRCh38:
Chr10:119651774
BAG3Q33HDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Sep 18, 2021)
criteria provided, single submitter
80.
GRCh37:
Chr10:121411286-121411293
GRCh38:
Chr10:119651774-119651781
BAG3T34fsnot provided, Primary dilated cardiomyopathyLikely pathogenic
(Oct 7, 2022)
criteria provided, multiple submitters, no conflicts
81.
GRCh37:
Chr10:121411288
GRCh38:
Chr10:119651776
BAG3T34IDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Sep 24, 2021)
criteria provided, single submitter
82.
GRCh37:
Chr10:121411289
GRCh38:
Chr10:119651777
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Apr 1, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr10:121411290
GRCh38:
Chr10:119651778
BAG3G35SMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Dec 3, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr10:121411290
GRCh38:
Chr10:119651778
BAG3G35CDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Apr 18, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:121411291
GRCh38:
Chr10:119651779
BAG3G35DMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:121411292
GRCh38:
Chr10:119651780
BAG3not specifiedLikely benign
(Nov 10, 2016)
criteria provided, single submitter
87.
GRCh37:
Chr10:121411295
GRCh38:
Chr10:119651783
BAG3W36*Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH, Cardiovascular phenotype
Pathogenic/Likely pathogenic
(Nov 14, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:121411296
GRCh38:
Chr10:119651784
BAG3P37Snot provided, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Uncertain significance
(Sep 1, 2021)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:121411298
GRCh38:
Chr10:119651786
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Mar 19, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:121411298-121411300
GRCh38:
Chr10:119651786-119651788
BAG3F39delnot provided, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
Uncertain significance
(Sep 2, 2022)
criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:121411298
GRCh38:
Chr10:119651786
BAG3not specified, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Likely benign
(Dec 18, 2018)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr10:121411301
GRCh38:
Chr10:119651789
BAG3not specifiedLikely benign
(Jan 21, 2014)
criteria provided, single submitter
93.
GRCh37:
Chr10:121411302
GRCh38:
Chr10:119651790
BAG3F39IDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(May 25, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:121411303
GRCh38:
Chr10:119651791
BAG3F39SCardiovascular phenotype, Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
Uncertain significance
(Aug 27, 2021)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:121411304
GRCh38:
Chr10:119651792
BAG3Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6Likely benign
(Jul 15, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr10:121411309
GRCh38:
Chr10:119651797
BAG3D41GDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Oct 16, 2021)
criteria provided, single submitter
97.
GRCh37:
Chr10:121411312
GRCh38:
Chr10:119651800
BAG3H42RDilated cardiomyopathy 1HH, Myofibrillar myopathy 6Uncertain significance
(Jan 14, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr10:121411313
GRCh38:
Chr10:119651801
BAG3H42QMyofibrillar myopathy 6, Dilated cardiomyopathy 1HHUncertain significance
(Sep 5, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr10:121411316
GRCh38:
Chr10:119651804
BAG3Myofibrillar myopathy 6, Dilated cardiomyopathy 1HHLikely benign
(May 25, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:121411319
GRCh38:
Chr10:119651807
BAG3Cardiovascular phenotype, Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
Likely benign
(Sep 29, 2021)
criteria provided, multiple submitters, no conflicts
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