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Items: 1 to 100 of 1580

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:96872364-118383651
GRCh38:
Chr10:95112607-116776637
ABCC2, ABLIM1, ACSL5, ACSM6, ACTR1A, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, ARL3, ARMH3, AS3MT, ATP5MK, ATRNL1, AVPI1, BBIP1, BLNK, BLOC1S2, BORCS7, BORCS7-ASMT, BTRC, C10orf12, C10orf131, C10orf62, C10orf82, C10orf95, C10orf95-AS1, CALHM1, CALHM2, CALHM3, CASP7, CC2D2B, CCDC172, CCDC186, CCNJ, CFAP43, CFAP58, CFAP58-DT, CHUK, CNNM1, CNNM2, COL17A1, COX15, CPN1, CRTAC1, CUEDC2, CUTC, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DNMBP, DNMBP-AS1, DNTT, DPCD, DUSP5, DUSP5-DT, ELOVL3, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FBXL15, FBXW4, FGF8, FHIP2A, FRA10B, FRAT1, FRAT2, GBF1, GFRA1, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, GPAM, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HOGA1, HPS1, HPS1-AS1, HPS6, HPSE2, HSPA12A, HSPA12A-AS1, INA, ITPRIP, ITPRIP-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, LBX1, LBX1-AS1, LCOR, LDB1, LINC01435, LINC01475, LINC01514, LINC02620, LINC02624, LINC02626, LINC02627, LINC02661, LINC02681, LOC101927692, LOC102723665, LOC103344931, LOC105378479, LOC107984265, LOC108281165, LOC109136576, LOC110120845, LOC110120850, LOC110120886, LOC110120887, LOC110121311, LOC110121472, LOC110121505, LOC110408762, LOC111501773, LOC111832675, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC113939914, LOC116216118, LOC116216119, LOC116216120, LOC116216121, LOC121366075, LOC121366076, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121815958, LOC121815959, LOC121815960, LOC121815961, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC124416880, LOC124416884, LOC124416888, 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, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC126861010, LOC126861011, LOC126861012, LOC126861013, LOC126861014, LOC126861015, 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, LOC128772341, LOC644215, LOXL4, LZTS2, MARVELD1, MFSD13A, MIR1287, MIR1307, MIR146B, MIR2110, MIR3085, MIR3157, MIR3158-1, MIR3158-2, MIR4295, MIR4482, MIR4483, MIR4680, MIR4685, MIR548E, MIR607, MIR608, MIR609, MIR6507, MIR6715A, MIR6715B, MIR936, MMS19, MORN4, MRPL43, MXI1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX2-3, NOLC1, NPM3, NRAP, NT5C2, OGA, OLMALINC, OPALIN, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PITX3, PKD2L1, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPRC1, PSD, PYROXD2, R3HCC1L, RBM20, RPEL1, RRP12, SCD, SEC31B, SEMA4G, SFR1, SFRP5, SFXN2, SFXN3, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLC25A28, SLF2, SLIT1, SLIT1-AS1, SLK, SMC3, SMNDC1, SNORA12, SNORA87, SNORD158, SORBS1, SORCS1, SORCS3, SORCS3-AS1, STN1, SUFU, TAF5, TCF7L2, TCTN3, TDRD1, TECTB, TLL2, TLX1, TLX1NB, TM9SF3, TRIM8, TRUB1, TWNK, UBTD1, VTI1A, VWA2, WBP1L, WNT8B, XPNPEP1, ZDHHC16, ZDHHC6, ZFYVE27, ZNF518A
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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
3.
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
4.
GRCh37:
Chr10:104491930-115844864
GRCh38:
Chr10:102732173-114085105
ACSL5, ADD3, ADD3-AS1, ADRA2A, ADRB1, AS3MT, ATP5MK, BBIP1, BORCS7, BORCS7-ASMT, CALHM1, CALHM2, CALHM3, CASP7, CFAP43, CFAP58, CFAP58-DT, CNNM2, COL17A1, CYP17A1, CYP17A1-AS1, DCLRE1A, DUSP5, DUSP5-DT, FRA10B, GPAM, GSTO1, GSTO2, HABP2, HEAT2, INA, ITPRIP, ITPRIP-AS1, LINC01435, LINC02620, LINC02624, LINC02627, LINC02661, LOC103344931, LOC105378479, LOC107984265, LOC110121472, LOC110408762, LOC111501773, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC116216120, LOC116216121, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121815966, LOC121815967, LOC121815968, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC128772341, MIR1307, MIR4295, MIR4482, MIR4483, MIR4680, MIR548E, MIR609, MIR6715A, MIR6715B, MIR936, MXI1, NEURL1, NEURL1-AS1, NHLRC2, NRAP, NT5C2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PLEKHS1, RBM20, RPEL1, SFR1, SFXN2, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLK, SMC3, SMNDC1, SNORA87, SORCS1, SORCS3, SORCS3-AS1, STN1, TAF5, TCF7L2, TECTB, VTI1A, WBP1L, XPNPEP1, ZDHHC6
See casesPathogenic
(Apr 23, 2013)
no assertion criteria provided
5.
GRCh37:
Chr10:108950858-120521001
GRCh38:
Chr10:107191100-118761489
ABLIM1, ACSL5, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ATRNL1, BBIP1, C10orf82, CACUL1, CASC2, CASP7, CCDC172, CCDC186, DCLRE1A, DUSP5, DUSP5-DT, EMX2, EMX2OS, ENO4, FAM204A, FHIP2A, FRA10B, GFRA1, GPAM, HABP2, HEAT2, HSPA12A, HSPA12A-AS1, KCNK18, LINC00867, LINC01435, LINC02626, LINC02661, LINC02674, LOC101927692, LOC103344931, LOC105378479, LOC110120919, LOC110120938, LOC110120952, LOC110121334, LOC110121396, LOC110121472, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC113939914, LOC116216121, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121815968, LOC121815969, LOC121815970, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, 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, MIR2110, MIR3663, MIR3663HG, MIR4295, MIR4483, MIR4680, MIR548E, MIR6715A, MIR6715B, MIR9851, MXI1, NHLRC2, NRAP, PDCD4, PDCD4-AS1, PDZD8, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRLHR, RAB11FIP2, RBM20, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SMC3, SMNDC1, SNORA87, SNORD158, TCF7L2, TDRD1, TECTB, TRUB1, VAX1, VTI1A, VWA2, XPNPEP1, ZDHHC6
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
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
7.
GRCh37:
Chr10:112403810
GRCh38:
Chr10:110644052
RBM20not providedBenign
(Jun 19, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr10:112403974
GRCh38:
Chr10:110644216
RBM20not providedLikely benign
(Jul 11, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr10:112404093
GRCh38:
Chr10:110644335
RBM20not providedBenign
(Jun 26, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr10:112404182
GRCh38:
Chr10:110644424
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr10:112404193-112583392
GRCh38:
Chr10:110644435-110823634
LOC111875823, LOC126861041, RBM20Dilated cardiomyopathy 1DDUncertain significance
(Aug 12, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr10:112404194
GRCh38:
Chr10:110644436
RBM20not specifiedLikely benign
(Jan 26, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:112404197
GRCh38:
Chr10:110644439
RBM20not specifiedUncertain significance
(Feb 16, 2015)
criteria provided, single submitter
14.
GRCh37:
Chr10:112404205
GRCh38:
Chr10:110644447
RBM20not specifiedLikely benign
(Dec 27, 2017)
criteria provided, single submitter
15.
GRCh37:
Chr10:112404207
GRCh38:
Chr10:110644449
RBM20not specified, not providedLikely benign
(Oct 27, 2022)
criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr10:112404211
GRCh38:
Chr10:110644453
RBM20Cardiovascular phenotypeUncertain significance
(Oct 4, 2021)
criteria provided, single submitter
17.
GRCh37:
Chr10:112404212
GRCh38:
Chr10:110644454
RBM20Cardiovascular phenotypeUncertain significance
(Mar 28, 2020)
criteria provided, single submitter
18.
GRCh37:
Chr10:112404216
GRCh38:
Chr10:110644458
RBM20V2LCardiomyopathyUncertain significance
(Nov 27, 2019)
criteria provided, single submitter
19.
GRCh37:
Chr10:112404217
GRCh38:
Chr10:110644459
RBM20V2ADilated cardiomyopathy 1DD, not providedUncertain significance
(Apr 21, 2022)
criteria provided, multiple submitters, no conflicts
20.
GRCh37:
Chr10:112404219
GRCh38:
Chr10:110644461
RBM20Cardiovascular phenotype, not provided, Dilated cardiomyopathy 1DD
Likely benign
(Oct 21, 2022)
criteria provided, multiple submitters, no conflicts
21.
GRCh37:
Chr10:112404226
GRCh38:
Chr10:110644468
RBM20A5VDilated cardiomyopathy 1DDLikely benign
(Oct 14, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:112404227
GRCh38:
Chr10:110644469
RBM20Dilated cardiomyopathy 1DDLikely benign
(Sep 4, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:112404228
GRCh38:
Chr10:110644470
RBM20A6TDilated cardiomyopathy 1DD, not provided, Cardiovascular phenotype
Uncertain significance
(Aug 4, 2022)
criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr10:112404231
GRCh38:
Chr10:110644473
RBM20M7Vnot providedUncertain significance
(Jun 5, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr10:112404231
GRCh38:
Chr10:110644473
RBM20M7Lnot providedUncertain significance
(Dec 5, 2017)
criteria provided, single submitter
26.
GRCh37:
Chr10:112404232
GRCh38:
Chr10:110644474
RBM20M7RDilated cardiomyopathy 1DDLikely benign
(Sep 17, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr10:112404232
GRCh38:
Chr10:110644474
RBM20M7TCardiovascular phenotypeUncertain significance
(Dec 5, 2019)
criteria provided, single submitter
28.
GRCh37:
Chr10:112404237
GRCh38:
Chr10:110644479
RBM20Q9*Dilated cardiomyopathy 1DDUncertain significance
(Dec 6, 2021)
criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr10:112404239
GRCh38:
Chr10:110644481
RBM20Q9HCardiovascular phenotype, Dilated cardiomyopathy 1DDConflicting interpretations of pathogenicity
(Jul 25, 2022)
criteria provided, conflicting interpretations
30.
GRCh37:
Chr10:112404244
GRCh38:
Chr10:110644486
RBM20A11Vnot providedUncertain significance
(Mar 5, 2015)
criteria provided, single submitter
31.
GRCh37:
Chr10:112404247
GRCh38:
Chr10:110644489
RBM20D12VDilated cardiomyopathy 1DDUncertain significance
(May 5, 2022)
criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:112404248
GRCh38:
Chr10:110644490
RBM20D12EDilated cardiomyopathy 1DD, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
33.
GRCh37:
Chr10:112404254
GRCh38:
Chr10:110644496
RBM20S14RCardiovascular phenotype, not provided, Dilated cardiomyopathy 1DD
Conflicting interpretations of pathogenicity
(Aug 12, 2022)
criteria provided, conflicting interpretations
34.
GRCh37:
Chr10:112404255
GRCh38:
Chr10:110644497
RBM20G15RDilated cardiomyopathy 1DDUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
35.
GRCh37:
Chr10:112404255
GRCh38:
Chr10:110644497
RBM20G15SDilated cardiomyopathy 1DDUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr10:112404260
GRCh38:
Chr10:110644502
RBM20Dilated cardiomyopathy 1DDLikely benign
(Mar 18, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr10:112404262
GRCh38:
Chr10:110644504
RBM20E17Vnot providedUncertain significance
(Dec 1, 2020)
criteria provided, single submitter
38.
GRCh37:
Chr10:112404264
GRCh38:
Chr10:110644506
RBM20Q18KDilated cardiomyopathy 1DDUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr10:112404267
GRCh38:
Chr10:110644509
RBM20P19TDilated cardiomyopathy 1DDUncertain significance
(Sep 17, 2021)
criteria provided, single submitter
40.
GRCh37:
Chr10:112404268
GRCh38:
Chr10:110644510
RBM20P19Rnot specifiedUncertain significance
(Nov 12, 2013)
criteria provided, single submitter
41.
GRCh37:
Chr10:112404269-112404270
GRCh38:
Chr10:110644511-110644512
RBM20D20YDilated cardiomyopathy 1DDUncertain significance
(Aug 2, 2021)
criteria provided, single submitter
42.
GRCh37:
Chr10:112404269
GRCh38:
Chr10:110644511
RBM20Cardiovascular phenotype, Cardiomyopathy, not specified,
Dilated cardiomyopathy 1DD
Conflicting interpretations of pathogenicity
(Sep 3, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr10:112404280
GRCh38:
Chr10:110644522
RBM20A23GCardiovascular phenotypeUncertain significance
(Jan 11, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr10:112404280
GRCh38:
Chr10:110644522
RBM20A23VDilated cardiomyopathy 1DD, not providedUncertain significance
(Aug 12, 2021)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:112404281
GRCh38:
Chr10:110644523
RBM20Dilated cardiomyopathy 1DDLikely benign
(Jun 7, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr10:112404282
GRCh38:
Chr10:110644524
RBM20C24SDilated cardiomyopathy 1DDUncertain significance
(Mar 9, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr10:112404282
GRCh38:
Chr10:110644524
RBM20C24RDilated cardiomyopathy 1DDUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
48.
GRCh37:
Chr10:112404284
GRCh38:
Chr10:110644526
RBM20Dilated cardiomyopathy 1DDLikely benign
(Jul 14, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr10:112404287
GRCh38:
Chr10:110644529
RBM20Dilated cardiomyopathy 1DDLikely benign
(Sep 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:112404292
GRCh38:
Chr10:110644534
RBM20P27HCardiovascular phenotypeUncertain significance
(Jan 20, 2023)
criteria provided, single submitter
51.
GRCh37:
Chr10:112404295
GRCh38:
Chr10:110644537
RBM20G28DDilated cardiomyopathy 1DD, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Dec 29, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr10:112404297-112404302
GRCh38:
Chr10:110644539-110644544
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Oct 28, 2021)
criteria provided, single submitter
53.
GRCh37:
Chr10:112404300
GRCh38:
Chr10:110644542
RBM20R30GCardiovascular phenotypeUncertain significance
(Jul 22, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr10:112404301-112404302
GRCh38:
Chr10:110644543-110644544
RBM20R30PDilated cardiomyopathy 1DDUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
55.
GRCh37:
Chr10:112404302
GRCh38:
Chr10:110644544
RBM20Cardiovascular phenotype, not specified, Cardiomyopathy,
Dilated cardiomyopathy 1DD
Benign
(Nov 3, 2022)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr10:112404307
GRCh38:
Chr10:110644549
RBM20P33fsnot provided, Dilated cardiomyopathy 1DD, Cardiovascular phenotype
Uncertain significance
(Jul 5, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:112404310
GRCh38:
Chr10:110644552
RBM20P33RDilated cardiomyopathy 1DDUncertain significance
(Mar 18, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr10:112404311
GRCh38:
Chr10:110644553
RBM20not provided, Dilated cardiomyopathy 1DD, not specified,
Cardiovascular phenotype
Conflicting interpretations of pathogenicity
(Mar 19, 2022)
criteria provided, conflicting interpretations
59.
GRCh37:
Chr10:112404315
GRCh38:
Chr10:110644557
RBM20P35TDilated cardiomyopathy 1DDLikely benign
(Sep 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr10:112404316
GRCh38:
Chr10:110644558
RBM20P35RDilated cardiomyopathy 1DD, Cardiovascular phenotypeUncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:112404317
GRCh38:
Chr10:110644559
RBM20Dilated cardiomyopathy 1DDLikely benign
(Apr 28, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:112404319-112404322
GRCh38:
Chr10:110644561-110644564
RBM20G37fsnot providedUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:112404326
GRCh38:
Chr10:110644568
RBM20Cardiovascular phenotype, Dilated cardiomyopathy 1DDBenign/Likely benign
(Jul 27, 2022)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:112404327
GRCh38:
Chr10:110644569
RBM20R39*Dilated cardiomyopathy 1DDUncertain significance
(Oct 21, 2019)
criteria provided, single submitter
65.
GRCh37:
Chr10:112404328
GRCh38:
Chr10:110644570
RBM20R39QDilated cardiomyopathy 1DDUncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr10:112404329
GRCh38:
Chr10:110644571
RBM20Cardiovascular phenotypeLikely benign
(Jan 27, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr10:112404330
GRCh38:
Chr10:110644572
RBM20G40RDilated cardiomyopathy 1DDUncertain significance
(Aug 30, 2021)
criteria provided, single submitter
68.
GRCh37:
Chr10:112404331
GRCh38:
Chr10:110644573
RBM20G40ADilated cardiomyopathy 1DDUncertain significance
(Oct 17, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr10:112404332
GRCh38:
Chr10:110644574
RBM20Cardiovascular phenotypeLikely benign
(Nov 27, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:112404332
GRCh38:
Chr10:110644574
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Dec 29, 2021)
criteria provided, single submitter
71.
GRCh37:
Chr10:112404333
GRCh38:
Chr10:110644575
RBM20M41LDilated cardiomyopathy 1DDUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr10:112404334-112404335
GRCh38:
Chr10:110644576-110644577
RBM20Dilated Cardiomyopathy, Dominant, Cardiovascular phenotype, not specified,
Cardiomyopathy, Dilated cardiomyopathy 1DD
Conflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr10:112404336
GRCh38:
Chr10:110644578
RBM20Q42*Cardiovascular phenotypeUncertain significance
(Jul 30, 2020)
criteria provided, single submitter
74.
GRCh37:
Chr10:112404337
GRCh38:
Chr10:110644579
RBM20Q42RDilated cardiomyopathy 1DDUncertain significance
(Feb 3, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:112404338
GRCh38:
Chr10:110644580
RBM20Cardiovascular phenotype, Dilated cardiomyopathy 1DDLikely benign
(Jan 17, 2022)
criteria provided, multiple submitters, no conflicts
76.
GRCh37:
Chr10:112404338-112404339
GRCh38:
Chr10:110644580-110644581
RBM20Dilated cardiomyopathy 1DD, Cardiovascular phenotype, not provided
Conflicting interpretations of pathogenicity
(Jul 12, 2022)
criteria provided, conflicting interpretations
77.
GRCh37:
Chr10:112404340-112404341
GRCh38:
Chr10:110644582-110644583
RBM20Dilated cardiomyopathy 1DD, Cardiovascular phenotypeConflicting interpretations of pathogenicity
(Sep 2, 2021)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr10:112404340-112404341
GRCh38:
Chr10:110644582-110644583
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Aug 27, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr10:112404340
GRCh38:
Chr10:110644582
RBM20Q43PCardiovascular phenotype, Dilated cardiomyopathy 1DDUncertain significance
(Nov 5, 2021)
criteria provided, multiple submitters, no conflicts
80.
GRCh37:
Chr10:112404341-112404343
GRCh38:
Chr10:110644583-110644585
RBM20P48delCardiovascular phenotype, Dilated cardiomyopathy 1DD, not specified
Conflicting interpretations of pathogenicity
(Jul 21, 2022)
criteria provided, conflicting interpretations
81.
GRCh37:
Chr10:112404343
GRCh38:
Chr10:110644585
RBM20P44Qnot provided, Dilated cardiomyopathy 1DD, Cardiovascular phenotype,
not specified
Likely benign
(Sep 23, 2022)
criteria provided, multiple submitters, no conflicts
82.
GRCh37:
Chr10:112404346
GRCh38:
Chr10:110644588
RBM20P45RDilated cardiomyopathy 1DDUncertain significance
(Dec 28, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr10:112404346
GRCh38:
Chr10:110644588
RBM20P45LDilated cardiomyopathy 1DDUncertain significance
(Aug 24, 2021)
criteria provided, single submitter
84.
GRCh37:
Chr10:112404346-112404347
GRCh38:
Chr10:110644588-110644589
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Sep 16, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:112404347-112404348
GRCh38:
Chr10:110644589-110644590
RBM20Dilated cardiomyopathy 1DD, not providedUncertain significance
(Sep 22, 2022)
criteria provided, multiple submitters, no conflicts
86.
GRCh37:
Chr10:112404347
GRCh38:
Chr10:110644589
RBM20not provided, CardiomyopathyLikely benign
(Apr 1, 2021)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr10:112404348-112404368
GRCh38:
Chr10:110644590-110644610
RBM20Cardiovascular phenotype, Dilated cardiomyopathy 1DD, not provided
Uncertain significance
(Jun 23, 2022)
criteria provided, multiple submitters, no conflicts
88.
GRCh37:
Chr10:112404348
GRCh38:
Chr10:110644590
RBM20P46Snot specified, Dilated cardiomyopathy 1DDUncertain significance
(Jun 3, 2022)
criteria provided, multiple submitters, no conflicts
89.
GRCh37:
Chr10:112404349
GRCh38:
Chr10:110644591
RBM20P46QDilated cardiomyopathy 1DDUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr10:112404350-112404351
GRCh38:
Chr10:110644592-110644593
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Apr 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr10:112404350
GRCh38:
Chr10:110644592
RBM20not providedLikely benignno assertion criteria provided
92.
GRCh37:
Chr10:112404351-112404368
GRCh38:
Chr10:110644593-110644610
RBM20Dilated cardiomyopathy 1DDUncertain significance
(Oct 23, 2021)
criteria provided, single submitter
93.
GRCh37:
Chr10:112404353
GRCh38:
Chr10:110644595
RBM20Cardiovascular phenotypeLikely benign
(Feb 11, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr10:112404357
GRCh38:
Chr10:110644599
RBM20Q49EDilated cardiomyopathy 1DD, Cardiovascular phenotypeUncertain significance
(Mar 8, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:112404358-112404359
GRCh38:
Chr10:110644600-110644601
RBM20Q49fsnot provided, not specifiedBenign/Likely benignno assertion criteria provided
96.
GRCh37:
Chr10:112404358
GRCh38:
Chr10:110644600
RBM20Q49Pnot providedLikely benignno assertion criteria provided
97.
GRCh37:
Chr10:112404362
GRCh38:
Chr10:110644604
RBM20Dilated cardiomyopathy 1DDLikely benign
(Feb 23, 2021)
criteria provided, single submitter
98.
GRCh37:
Chr10:112404362-112404365
GRCh38:
Chr10:110644604-110644607
RBM20P52fsPrimary dilated cardiomyopathyUncertain significancecriteria provided, single submitter
99.
GRCh37:
Chr10:112404362
GRCh38:
Chr10:110644604
RBM20not provided, Dilated cardiomyopathy 1DDLikely benign
(Jan 1, 2023)
criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:112404362-112404363
GRCh38:
Chr10:110644604-110644605
RBM20Dilated cardiomyopathy 1DD, not providedUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
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