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Items: 1 to 100 of 433

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:
Chr10:112303609-112348521
GRCh38:
Chr10:110543851-110588763
SMC3See casesUncertain significance
(Apr 30, 2011)
no assertion criteria provided
8.
GRCh37:
Chr10:112327119
GRCh38:
Chr10:110567361
SMC3not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr10:112327367
GRCh38:
Chr10:110567609
SMC3not providedLikely benign
(Jul 17, 2018)
criteria provided, single submitter
10.
GRCh37:
Chr10:112327439
GRCh38:
Chr10:110567681
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
11.
GRCh37:
Chr10:112327440
GRCh38:
Chr10:110567682
SMC3De Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr10:112327445
GRCh38:
Chr10:110567687
SMC3De Lange syndromeLikely benign
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr10:112327460
GRCh38:
Chr10:110567702
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
14.
GRCh37:
Chr10:112327476
GRCh38:
Chr10:110567718
SMC3Cornelia de Lange syndrome 3, not providedBenign/Likely benign
(Dec 9, 2018)
criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:112327483
GRCh38:
Chr10:110567725
SMC3Cornelia de Lange syndrome 3Benign
(Jan 13, 2018)
criteria provided, single submitter
16.
GRCh37:
Chr10:112327485
GRCh38:
Chr10:110567727
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
17.
GRCh37:
Chr10:112327501
GRCh38:
Chr10:110567743
SMC3Cornelia de Lange syndrome 3Likely benign
(Jan 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr10:112327510
GRCh38:
Chr10:110567752
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Jan 13, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr10:112327581
GRCh38:
Chr10:110567823
SMC3I3VCornelia de Lange syndrome 3Uncertain significance
(Aug 12, 2019)
criteria provided, single submitter
20.
GRCh37:
Chr10:112327600
GRCh38:
Chr10:110567842
SMC3Cornelia de Lange syndrome 3Likely benign
(Jul 30, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:112327601
GRCh38:
Chr10:110567843
SMC3Cornelia de Lange syndrome 3Likely benign
(Jul 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:112327678-112327679
GRCh38:
Chr10:110567920-110567921
SMC3not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr10:112327723
GRCh38:
Chr10:110567965
SMC3not providedLikely benign
(Sep 26, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr10:112328525-112328526
GRCh38:
Chr10:110568767-110568768
SMC3not providedBenign
(Aug 27, 2019)
criteria provided, single submitter
25.
GRCh37:
Chr10:112328525-112328526
GRCh38:
Chr10:110568767-110568768
SMC3not providedBenign
(May 25, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr10:112328526
GRCh38:
Chr10:110568768
SMC3not providedLikely benign
(Dec 19, 2019)
criteria provided, single submitter
27.
GRCh37:
Chr10:112328618-112328621
GRCh38:
Chr10:110568860-110568863
SMC3not providedBenign
(Dec 5, 2020)
criteria provided, single submitter
28.
GRCh37:
Chr10:112328650-112328651
GRCh38:
Chr10:110568892-110568893
SMC3not providedBenign
(Dec 18, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr10:112328713
GRCh38:
Chr10:110568955
SMC3Cornelia de Lange syndrome 3Likely benign
(Jul 28, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr10:112328749
GRCh38:
Chr10:110568991
SMC3Cornelia de Lange syndrome 3, Inborn genetic diseasesLikely benign
(May 25, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:112328838
GRCh38:
Chr10:110569080
SMC3not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
32.
GRCh37:
Chr10:112328993-112328996
GRCh38:
Chr10:110569235-110569238
SMC3not providedBenign
(Nov 22, 2018)
criteria provided, single submitter
33.
GRCh37:
Chr10:112333166-112333167
GRCh38:
Chr10:110573408-110573409
SMC3not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
34.
GRCh37:
Chr10:112333272
GRCh38:
Chr10:110573514
SMC3not providedBenign
(Jun 16, 2018)
criteria provided, single submitter
35.
GRCh37:
Chr10:112333333-112333334
GRCh38:
Chr10:110573575-110573576
SMC3not providedBenign
(Nov 8, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr10:112333446
GRCh38:
Chr10:110573688
SMC3not provided, not specified, Cornelia de Lange syndrome 3
Benign/Likely benign
(Oct 24, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:112333498
GRCh38:
Chr10:110573740
SMC3F42SCornelia de Lange syndrome 3Uncertain significance
(Aug 20, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr10:112333514
GRCh38:
Chr10:110573756
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Dec 9, 2019)
criteria provided, single submitter
39.
GRCh37:
Chr10:112333691
GRCh38:
Chr10:110573933
SMC3not providedBenign
(Sep 26, 2018)
criteria provided, single submitter
40.
GRCh37:
Chr10:112333696
GRCh38:
Chr10:110573938
SMC3not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
41.
GRCh37:
Chr10:112335102
GRCh38:
Chr10:110575344
SMC3F47LCornelia de Lange syndrome 3Pathogenic
(Apr 1, 2015)
no assertion criteria provided
42.
GRCh37:
Chr10:112335144
GRCh38:
Chr10:110575386
SMC3R61WCornelia de Lange syndrome 3Conflicting interpretations of pathogenicity
(Mar 1, 2022)
criteria provided, conflicting interpretations
43.
GRCh37:
Chr10:112335164
GRCh38:
Chr10:110575406
SMC3Cornelia de Lange syndrome 3Likely benign
(Jan 12, 2018)
criteria provided, single submitter
44.
GRCh37:
Chr10:112335168
GRCh38:
Chr10:110575410
SMC3not provided, Cornelia de Lange syndrome 3Benign
(Jan 13, 2018)
criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:112336974
GRCh38:
Chr10:110577216
SMC3not providedBenign
(Feb 21, 2019)
criteria provided, single submitter
46.
GRCh37:
Chr10:112336977
GRCh38:
Chr10:110577219
SMC3not providedLikely benign
(Dec 9, 2018)
criteria provided, single submitter
47.
GRCh37:
Chr10:112337164
GRCh38:
Chr10:110577406
SMC3Cornelia de Lange syndrome 3Likely benign
(Jun 4, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:112337235
GRCh38:
Chr10:110577477
SMC3Inborn genetic diseases, not providedConflicting interpretations of pathogenicity
(May 26, 2017)
criteria provided, conflicting interpretations
49.
GRCh37:
Chr10:112337235
GRCh38:
Chr10:110577477
SMC3Inborn genetic diseases, not specified, not provided,
Cornelia de Lange syndrome 3
Conflicting interpretations of pathogenicity
(Nov 3, 2022)
criteria provided, conflicting interpretations
50.
GRCh37:
Chr10:112337237
GRCh38:
Chr10:110577479
SMC3D86Anot specifiedUncertain significance
(Aug 7, 2015)
criteria provided, single submitter
51.
GRCh37:
Chr10:112337259-112337260
GRCh38:
Chr10:110577501-110577502
SMC3not specified, Cornelia de Lange syndrome 3Benign/Likely benign
(Jun 19, 2022)
criteria provided, multiple submitters, no conflicts
52.
GRCh37:
Chr10:112337260-112337261
GRCh38:
Chr10:110577502-110577503
SMC3Cornelia de Lange syndrome 3Benign
(May 9, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:112337347
GRCh38:
Chr10:110577589
SMC3not providedLikely benign
(Feb 7, 2019)
criteria provided, single submitter
54.
GRCh37:
Chr10:112337386
GRCh38:
Chr10:110577628
SMC3not providedLikely benign
(Sep 23, 2019)
criteria provided, single submitter
55.
GRCh37:
Chr10:112337508
GRCh38:
Chr10:110577750
SMC3not providedLikely benign
(Aug 8, 2019)
criteria provided, single submitter
56.
GRCh37:
Chr10:112337587
GRCh38:
Chr10:110577829
SMC3Cornelia de Lange syndrome 3Likely benign
(Aug 15, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr10:112337596
GRCh38:
Chr10:110577838
SMC3D92Ynot specifiedUncertain significance
(May 16, 2017)
criteria provided, single submitter
58.
GRCh37:
Chr10:112337598
GRCh38:
Chr10:110577840
SMC3Inborn genetic diseases, not specified, Cornelia de Lange syndrome 3
Likely benign
(Aug 29, 2018)
criteria provided, multiple submitters, no conflicts
59.
GRCh37:
Chr10:112337605
GRCh38:
Chr10:110577847
SMC3E95KCornelia de Lange syndrome 3Likely pathogenic
(Aug 14, 2014)
criteria provided, single submitter
60.
GRCh37:
Chr10:112337621
GRCh38:
Chr10:110577863
SMC3R100KSee casesUncertain significance
(Jan 23, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr10:112337631
GRCh38:
Chr10:110577873
SMC3Cornelia de Lange syndrome 3Likely benign
(Mar 7, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:112337635
GRCh38:
Chr10:110577877
SMC3K105Enot providedUncertain significance
(Apr 29, 2019)
criteria provided, single submitter
63.
GRCh37:
Chr10:112337661
GRCh38:
Chr10:110577903
SMC3Inborn genetic diseasesLikely benign
(Jun 29, 2017)
criteria provided, single submitter
64.
GRCh37:
Chr10:112337685-112337686
GRCh38:
Chr10:110577927-110577928
SMC3Cornelia de Lange syndrome 3Benign
(Sep 15, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:112337693
GRCh38:
Chr10:110577935
SMC3not specified, not providedBenign
(Jul 7, 2018)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr10:112337702
GRCh38:
Chr10:110577944
SMC3not providedBenign
(Jul 15, 2018)
criteria provided, single submitter
67.
GRCh37:
Chr10:112338287
GRCh38:
Chr10:110578529
SMC3not providedBenign
(Sep 26, 2018)
criteria provided, single submitter
68.
GRCh37:
Chr10:112338377
GRCh38:
Chr10:110578619
SMC3not specified, Cornelia de Lange syndrome 3Benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
69.
GRCh37:
Chr10:112338382
GRCh38:
Chr10:110578624
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Oct 2, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr10:112338398
GRCh38:
Chr10:110578640
SMC3Cornelia de Lange syndrome 3Likely benign
(Sep 26, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:112338402
GRCh38:
Chr10:110578644
SMC3N123YInborn genetic diseasesUncertain significance
(Sep 13, 2017)
criteria provided, single submitter
72.
GRCh37:
Chr10:112338404
GRCh38:
Chr10:110578646
SMC3Cornelia de Lange syndrome 3, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Jul 13, 2018)
criteria provided, conflicting interpretations
73.
GRCh37:
Chr10:112338406
GRCh38:
Chr10:110578648
SMC3L124RCornelia de Lange syndrome 3Uncertain significancecriteria provided, single submitter
74.
GRCh37:
Chr10:112338407
GRCh38:
Chr10:110578649
SMC3Cornelia de Lange syndrome 3Likely benign
(Aug 31, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:112338407
GRCh38:
Chr10:110578649
SMC3not providedLikely benign
(Dec 9, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr10:112338412
GRCh38:
Chr10:110578654
SMC3E126GCornelia de Lange syndrome 3Uncertain significance
(Mar 4, 2013)
criteria provided, single submitter
77.
GRCh37:
Chr10:112338416
GRCh38:
Chr10:110578658
SMC3S127RDe Lange syndromeLikely pathogenic
(Mar 20, 2019)
criteria provided, single submitter
78.
GRCh37:
Chr10:112338418-112338426
GRCh38:
Chr10:110578660-110578668
SMC3not providedUncertain significance
(May 1, 2017)
criteria provided, single submitter
79.
GRCh37:
Chr10:112338419
GRCh38:
Chr10:110578661
SMC3Cornelia de Lange syndrome 3Likely benign
(May 19, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr10:112338421
GRCh38:
Chr10:110578663
SMC3G129VCornelia de Lange syndrome 3Uncertain significance
(Oct 29, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr10:112338437
GRCh38:
Chr10:110578679
SMC3Inborn genetic diseasesLikely benign
(Mar 22, 2019)
criteria provided, single submitter
82.
GRCh37:
Chr10:112338459
GRCh38:
Chr10:110578701
SMC3G142RCornelia de Lange syndrome 3Uncertain significance
(Aug 27, 2021)
criteria provided, single submitter
83.
GRCh37:
Chr10:112340643
GRCh38:
Chr10:110580885
SMC3Cornelia de Lange syndrome 3Likely benign
(Oct 14, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr10:112340644
GRCh38:
Chr10:110580886
SMC3Cornelia de Lange syndrome 3Likely benign
(Jan 3, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr10:112340681
GRCh38:
Chr10:110580923
SMC3A150Vnot providedUncertain significance
(Jul 30, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr10:112340739
GRCh38:
Chr10:110580981
SMC3Cornelia de Lange syndrome 3Uncertain significance
(Feb 8, 2013)
criteria provided, single submitter
87.
GRCh37:
Chr10:112340770
GRCh38:
Chr10:110581012
SMC3K180QCornelia de Lange syndrome 3Uncertain significance
(Apr 12, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr10:112340871
GRCh38:
Chr10:110581113
SMC3not providedBenign
(Jul 15, 2018)
criteria provided, single submitter
89.
GRCh37:
Chr10:112340974-112340975
GRCh38:
Chr10:110581216-110581217
SMC3not providedBenign
(Apr 11, 2021)
criteria provided, single submitter
90.
GRCh37:
Chr10:112340975
GRCh38:
Chr10:110581217
SMC3not providedBenign
(Aug 8, 2019)
criteria provided, single submitter
91.
GRCh37:
Chr10:112341414
GRCh38:
Chr10:110581656
SMC3not providedLikely benign
(Sep 23, 2019)
criteria provided, single submitter
92.
GRCh37:
Chr10:112341535
GRCh38:
Chr10:110581777
SMC3not providedBenign
(Jul 7, 2018)
criteria provided, single submitter
93.
GRCh37:
Chr10:112341636
GRCh38:
Chr10:110581878
SMC3not specified, not providedBenign
(Jul 7, 2018)
criteria provided, multiple submitters, no conflicts
94.
GRCh37:
Chr10:112341673-112341674
GRCh38:
Chr10:110581915-110581916
SMC3Inborn genetic diseases, not specified, not provided,
De Lange syndrome, Cornelia de Lange syndrome 3
Benign/Likely benign
(Oct 30, 2022)
criteria provided, multiple submitters, no conflicts
95.
GRCh37:
Chr10:112341695
GRCh38:
Chr10:110581937
SMC3K188Enot providedLikely pathogenic
(Feb 11, 2016)
criteria provided, single submitter
96.
GRCh37:
Chr10:112341710
GRCh38:
Chr10:110581952
SMC3Cornelia de Lange syndrome 3Likely benign
(Mar 18, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr10:112341720
GRCh38:
Chr10:110581962
SMC3I196TCornelia de Lange syndrome 3Likely pathogenic
(Aug 30, 2014)
criteria provided, single submitter
98.
GRCh37:
Chr10:112341754
GRCh38:
Chr10:110581996
SMC3Inborn genetic diseases, not specified, Cornelia de Lange syndrome 3
Conflicting interpretations of pathogenicity
(Aug 29, 2022)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr10:112341757
GRCh38:
Chr10:110581999
SMC3E208DCornelia de Lange syndrome 3Uncertain significance
(Oct 4, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr10:112341794
GRCh38:
Chr10:110582036
SMC3R221*Cornelia de Lange syndrome 3Uncertain significance
(Apr 17, 2018)
criteria provided, single submitter
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