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Items: 1 to 100 of 657

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:
Chr10:119626076-135367714
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
6.
GRCh37:
Chr10:121032524-124876906
GRCh38:
Chr10:119273012-123117390
ACADSB, ARMS2, ATE1, ATE1-AS1, BAG3, BTBD16, C10orf120, C10orf88, CUZD1, DMBT1, FAM24A, FAM24B, FAM24B-CUZD1, FGFR2, GRK5, HTRA1, IKZF5, INPP5F, LINC01153, LINC01561, LOC110120851, LOC110121344, LOC111818958, LOC111818962, LOC111875830, LOC111875831, LOC113939915, LOC121366087, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC126861060, LOC126861061, LOC126861062, LOC126861063, LOC126861064, LOC126861065, LOC126861066, LOC126861067, LOC126861068, LOC126861069, MCMBP, MIR3941, MIR4681, MIR4682, NSMCE4A, PLEKHA1, PLPP4, PSTK, RGS10, SEC23IP, SPADH, TACC2, TIAL1, WDR11, WDR11-DT
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
7.
GRCh37:
Chr10:121467368-135427143
GRCh38:
Chr10:119707856-133613639
ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FOXI2, FUOM, GLRX3, GPR26, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INPP5F, INSYN2A, JAKMIP3, JAKMIP3-AS1, KNDC1, LHPP, LINC00601, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02641, LINC02667, LINC02870, LINC03068, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120924, LOC110120928, LOC110121344, LOC110121444, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939915, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416919, LOC124416920, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, 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, MIR4682, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PLPP4, PPP2R2D, PRAP1, PSTK, PTPRE, PWWP2B, SCART1, SEC23IP, SPADH, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TEX36, TEX36-AS1, TUBGCP2, UROS, UTF1, VENTX, WDR11, WDR11-DT, ZNF511, ZNF511-PRAP1, ZRANB1
See casesPathogenic
(Aug 19, 2013)		no assertion criteria provided
8.
GRCh37:
Chr10:122213942-135434178
GRCh38:
Chr10:120454430-133620674
ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, CALY, CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FOXI2, FUOM, GLRX3, GPR26, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INSYN2A, JAKMIP3, JAKMIP3-AS1, KNDC1, LHPP, LINC00601, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC01561, LINC02641, LINC02667, LINC02870, LINC03068, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120924, LOC110120928, LOC110121344, LOC110121444, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875831, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939915, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, 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, MGMT, MIR202, MIR202HG, MIR378C, MIR3941, MIR3944, MIR4296, MIR4297, MIR4484, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PLPP4, PPP2R2D, PRAP1, PSTK, PTPRE, PWWP2B, SCART1, SPADH, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TEX36, TEX36-AS1, TUBGCP2, UROS, UTF1, VENTX, WDR11, WDR11-DT, ZNF511, ZNF511-PRAP1, ZRANB1
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
9.
GRCh37:
Chr10:122730071-135436092
GRCh38:
Chr10:120970558-133622588
CFAP46, CHST15, CLRN3, CPXM2, CTBP2, CUZD1, CYP2E1, DHX32, DMBT1, DOCK1, DPYSL4, EBF3, ECHS1, EDRF1, EDRF1-AS1, EDRF1-DT, EEF1AKMT2, FAM24A, FAM24B, FAM24B-CUZD1, FAM53B, FAM53B-AS1, FANK1, FANK1-AS1, FGFR2, FOXI2, FUOM, GLRX3, GPR26, HMX2, HMX3, HTRA1, IKZF5, INPP5A, INSYN2A, JAKMIP3, JAKMIP3-AS1, KNDC1, LHPP, LINC00601, LINC01153, LINC01163, LINC01164, LINC01165, LINC01166, LINC01167, LINC01168, LINC02641, LINC02667, LINC02870, LINC03068, LOC107984282, LOC110120846, LOC110120851, LOC110120852, LOC110120892, LOC110120898, LOC110120916, LOC110120924, LOC110120928, LOC110121344, LOC110121444, LOC110599579, LOC110599585, LOC111818958, LOC111818962, LOC111818963, LOC111875832, LOC111875833, LOC111875834, LOC111875835, LOC111946221, LOC113939915, LOC121366088, LOC121366089, LOC121366090, LOC121366091, LOC121366092, LOC121366093, LOC121815973, LOC121815974, LOC121815975, LOC121815976, LOC121815977, LOC124416921, LOC124416922, LOC124416923, LOC124416924, LOC124416925, LOC124416926, LOC124416927, LOC124416928, LOC124416929, LOC124416930, LOC124416931, LOC124416932, LOC124416933, LOC124416934, LOC124416935, LOC124416936, 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, MGMT, MIR202, MIR202HG, MIR378C, MIR3941, MIR3944, MIR4296, MIR4297, MIR4484, MKI67, MMP21, MTG1, NKX1-2, NKX6-2, NPS, NSMCE4A, OAT, PAOX, PLEKHA1, PPP2R2D, PRAP1, PSTK, PTPRE, PWWP2B, SCART1, SPADH, SPRN, STK32C, SYCE1, TACC2, TCERG1L, TCERG1L-AS1, TEX36, TEX36-AS1, TUBGCP2, UROS, UTF1, VENTX, ZNF511, ZNF511-PRAP1, ZRANB1, ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, BCCIP, BNIP3, BTBD16, BUB3, C10orf120, C10orf143, C10orf88, C10orf90, CALY
See casesPathogenic
(Aug 27, 2012)		no assertion criteria provided
10.
GRCh37:
Chr10:123237832
GRCh38:
Chr10:121478318
FGFR2Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Craniosynostosis syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr10:123237869-123237873
GRCh38:
Chr10:121478355-121478359
FGFR2Levy-Hollister syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Craniosynostosis syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
12.
GRCh37:
Chr10:123237882
GRCh38:
Chr10:121478368
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr10:123237969
GRCh38:
Chr10:121478455
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr10:123238002
GRCh38:
Chr10:121478488
FGFR2FGFR2-related bent bone dysplasia, Familial scaphocephaly syndrome, McGillivray type, Crouzon syndrome,
Saethre-Chotzen syndrome, Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Gastric cancer, Jackson-Weiss syndromeCraniosynostosis syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis, Crouzon syndrome,
Beare-Stevenson cutis gyrata syndrome, ...see more		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:123238052
GRCh38:
Chr10:121478538
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr10:123238070
GRCh38:
Chr10:121478556
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr10:123238084
GRCh38:
Chr10:121478570
FGFR2Craniosynostosis syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr10:123238088
GRCh38:
Chr10:121478574
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr10:123238131
GRCh38:
Chr10:121478617
FGFR2Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr10:123238245
GRCh38:
Chr10:121478731
FGFR2Craniosynostosis syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr10:123238301
GRCh38:
Chr10:121478787
FGFR2Craniosynostosis syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr10:123238450
GRCh38:
Chr10:121478936
FGFR2Craniosynostosis syndrome, Crouzon syndrome, Saethre-Chotzen syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr10:123238497
GRCh38:
Chr10:121478983
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr10:123238634-123238635
GRCh38:
Chr10:121479120-121479121
FGFR2Levy-Hollister syndrome, Jackson-Weiss syndrome, Acrocephalosyndactyly type I,
Saethre-Chotzen syndrome, Craniosynostosis syndrome, Pfeiffer syndrome,
Crouzon syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr10:123238641
GRCh38:
Chr10:121479127
FGFR2Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr10:123238697
GRCh38:
Chr10:121479183
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr10:123238727-123238730
GRCh38:
Chr10:121479213-121479216
FGFR2Levy-Hollister syndrome, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Crouzon syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr10:123238874
GRCh38:
Chr10:121479360
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:123238902
GRCh38:
Chr10:121479388
FGFR2not provided, Craniosynostosis syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
Benign
(Jun 30, 2018)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:123238908
GRCh38:
Chr10:121479394
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome,
Crouzon syndrome, Isolated coronal synostosis		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
31.
GRCh37:
Chr10:123238968
GRCh38:
Chr10:121479454
FGFR2not provided, Crouzon syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome
Benign/Likely benign
(Jul 15, 2018)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:123239047
GRCh38:
Chr10:121479533
FGFR2Saethre-Chotzen syndrome, Crouzon syndrome, Craniosynostosis syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:123239112
GRCh38:
Chr10:121479598
FGFR2not provided, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Crouzon syndrome, Isolated coronal synostosis, not specified,
Beare-Stevenson cutis gyrata syndrome		Benign
(May 9, 2018)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:123239115
GRCh38:
Chr10:121479601
FGFR2V702ISaethre-Chotzen syndrome, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr10:123239174
GRCh38:
Chr10:121479660
FGFR2K682fsnot provided, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Levy-Hollister syndrome, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Crouzon syndrome		Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:123239187
GRCh38:
Chr10:121479673
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr10:123239260
GRCh38:
Chr10:121479746
FGFR2Saethre-Chotzen syndrome, Craniosynostosis syndrome, Crouzon syndrome,
Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
38.
GRCh37:
Chr10:123239370
GRCh38:
Chr10:121479856
FGFR2not specifiedUncertain significance
(Dec 28, 2020)		criteria provided, single submitter
39.
GRCh37:
Chr10:123239389
GRCh38:
Chr10:121479875
FGFR2FGFR2-related craniosynostosisLikely benign
(Mar 8, 2021)		criteria provided, single submitter
40.
GRCh37:
Chr10:123239392-123239393
GRCh38:
Chr10:121479878-121479879
FGFR2I587fs, I698fs, I699fs, I700fs, I703fs, I726fs, I813fs, I815fs, I816fsBeare-Stevenson cutis gyrata syndrome, Pfeiffer syndrome, Crouzon syndrome,
FGFR2-related bent bone dysplasia, Jackson-Weiss syndrome, Levy-Hollister syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Gastric cancerFGFR2-related craniosynostosis,
...see more		Uncertain significance
(Nov 5, 2021)		criteria provided, multiple submitters, no conflicts
41.
GRCh37:
Chr10:123239411
GRCh38:
Chr10:121479897
FGFR2L581P, L694P, L810P, L692P, L693P, L697P, L807P, L720P, L809PBeare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome, Pfeiffer syndrome,
Gastric cancer, Levy-Hollister syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Crouzon syndrome, FGFR2-related bent bone dysplasiaFGFR2-related craniosynostosis,
...see more		Conflicting interpretations of pathogenicity
(Aug 31, 2022)		criteria provided, conflicting interpretations
42.
GRCh37:
Chr10:123239413
GRCh38:
Chr10:121479899
FGFR2FGFR2-related craniosynostosisLikely benign
(Jul 13, 2020)		criteria provided, single submitter
43.
GRCh37:
Chr10:123239413
GRCh38:
Chr10:121479899
FGFR2C580W, C691W, C692W, C693W, C696W, C719W, C806W, C808W, C809WFGFR2-related craniosynostosisUncertain significance
(Oct 13, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr10:123239416
GRCh38:
Chr10:121479902
FGFR2FGFR2-related craniosynostosisLikely benign
(Apr 4, 2022)		criteria provided, single submitter
45.
GRCh37:
Chr10:123239421
GRCh38:
Chr10:121479907
FGFR2E806K, E807K, E694K, E578K, E691K, E717K, E689K, E804K, E690KCraniosynostosis syndrome, not provided, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome, Isolated coronal synostosis
Conflicting interpretations of pathogenicity
(Dec 10, 2019)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr10:123239422
GRCh38:
Chr10:121479908
FGFR2not provided, Saethre-Chotzen syndrome, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, Isolated coronal synostosis, Crouzon syndrome,
Beare-Stevenson cutis gyrata syndrome		Benign/Likely benign
(Aug 9, 2022)		criteria provided, multiple submitters, no conflicts
47.
GRCh37:
Chr10:123239427
GRCh38:
Chr10:121479913
FGFR2P687S, P689S, P688S, P692S, P804S, P802S, P576S, P715S, P805Snot provided, FGFR2-related craniosynostosisUncertain significance
(Aug 31, 2021)		criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr10:123239438
GRCh38:
Chr10:121479924
FGFR2P572L, P684L, P800L, P683L, P685L, P798L, P688L, P711L, P801LFGFR2-related craniosynostosisUncertain significance
(Jul 20, 2022)		criteria provided, single submitter
49.
GRCh37:
Chr10:123239441-123239442
GRCh38:
Chr10:121479927-121479928
FGFR2S571fs, S682fs, S683fs, S684fs, S687fs, S710fs, S797fs, S799fs, S800fsFGFR2-related craniosynostosisUncertain significance
(Apr 28, 2021)		criteria provided, single submitter
50.
GRCh37:
Chr10:123239469
GRCh38:
Chr10:121479955
FGFR2C562R, C673R, C674R, C675R, C678R, C701R, C788R, C790R, C791Rnot providedUncertain significance
(Nov 27, 2020)		criteria provided, single submitter
51.
GRCh37:
Chr10:123239497
GRCh38:
Chr10:121479983
FGFR2FGFR2-related craniosynostosisLikely benign
(Mar 20, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr10:123239508
GRCh38:
Chr10:121479994
FGFR2E777K, E778K, E661K, E688K, E660K, E662K, E665K, E549K, E775Knot specifiednot provided
(Sep 19, 2013)		no assertion provided
53.
GRCh37:
Chr10:123239509
GRCh38:
Chr10:121479995
FGFR2FGFR2-related craniosynostosis, not providedBenign/Likely benign
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr10:123239526
GRCh38:
Chr10:121480012
FGFR2D543N, D659N, D771N, D682N, D769N, D772N, D654N, D656N, D655NFGFR2-related craniosynostosisUncertain significance
(Dec 17, 2021)		criteria provided, single submitter
55.
GRCh37:
Chr10:123239552
GRCh38:
Chr10:121480038
FGFR2FGFR2-related craniosynostosisLikely benign
(Aug 31, 2022)		criteria provided, single submitter
56.
GRCh37:
Chr10:123239754
GRCh38:
Chr10:121480240
FGFR2not providedLikely benign
(Oct 21, 2018)		criteria provided, single submitter
57.
GRCh37:
Chr10:123241124
GRCh38:
Chr10:121481610
FGFR2not providedBenign
(Dec 1, 2022)		criteria provided, single submitter
58.
GRCh37:
Chr10:123241341-123241342
GRCh38:
Chr10:121481827-121481828
FGFR2not providedBenign
(Jul 1, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr10:123241354
GRCh38:
Chr10:121481840
FGFR2not providedBenign
(Aug 8, 2019)		criteria provided, single submitter
60.
GRCh37:
Chr10:123241355
GRCh38:
Chr10:121481841
FGFR2not providedBenign
(Aug 8, 2019)		criteria provided, single submitter
61.
GRCh37:
Chr10:123241361
GRCh38:
Chr10:121481847
FGFR2not providedBenign
(Aug 6, 2019)		criteria provided, single submitter
62.
GRCh37:
Chr10:123241373
GRCh38:
Chr10:121481859
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
63.
GRCh37:
Chr10:123241383
GRCh38:
Chr10:121481869
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr10:123241389
GRCh38:
Chr10:121481875
FGFR2not providedBenign
(Jun 30, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr10:123241496
GRCh38:
Chr10:121481982
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr10:123241616
GRCh38:
Chr10:121482102
FGFR2not providedBenign
(Aug 14, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr10:123241686
GRCh38:
Chr10:121482172
FGFR2not specifiednot provided
(Sep 19, 2013)		no assertion provided
68.
GRCh37:
Chr10:123241794
GRCh38:
Chr10:121482280
FGFR2not providedBenign
(Jun 25, 2018)		criteria provided, single submitter
69.
GRCh37:
Chr10:123242016
GRCh38:
Chr10:121482502
FGFR2not providedBenign
(Sep 1, 2022)		criteria provided, single submitter
70.
GRCh37:
Chr10:123242026
GRCh38:
Chr10:121482512
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
71.
GRCh37:
Chr10:123243197
GRCh38:
Chr10:121483683
FGFR2Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, not specified, Isolated coronal synostosis,
FGFR2-related craniosynostosis		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:123243223
GRCh38:
Chr10:121483709
FGFR2T649A, T675A, T676A, T652A, T536A, T648A, T762A, T764A, T647A, T765AInborn genetic diseasesUncertain significance
(Nov 16, 2021)		criteria provided, single submitter
73.
GRCh37:
Chr10:123243230
GRCh38:
Chr10:121483716
FGFR2not providedLikely benign
(Mar 23, 2021)		criteria provided, single submitter
74.
GRCh37:
Chr10:123243266
GRCh38:
Chr10:121483752
FGFR2not providedLikely benign
(Aug 16, 2018)		criteria provided, single submitter
75.
GRCh37:
Chr10:123243268
GRCh38:
Chr10:121483754
FGFR2T521A, T632A, T633A, T634A, T637A, T660A, T661A, T747A, T749A, T750Anot providedUncertain significance
(Aug 27, 2020)		criteria provided, single submitter
76.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2not provided, Beare-Stevenson cutis gyrata syndrome, Crouzon syndrome,
Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type, Jackson-Weiss syndrome,
Pfeiffer syndrome, Levy-Hollister syndrome, FGFR2-related bent bone dysplasia,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type IGastric cancer,
FGFR2-related craniosynostosis, ...see more		Benign/Likely benign
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
77.
GRCh37:
Chr10:123243283
GRCh38:
Chr10:121483769
FGFR2P516S, P629S, P628S, P627S, P632S, P656S, P742S, P744S, P745S, P655Snot provided, FGFR2-related craniosynostosisUncertain significance
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:123243290
GRCh38:
Chr10:121483776
FGFR2FGFR2-related craniosynostosisLikely benign
(Apr 25, 2022)		criteria provided, single submitter
79.
GRCh37:
Chr10:123243303
GRCh38:
Chr10:121483789
FGFR2R509T, R620T, R621T, R622T, R625T, R648T, R649T, R735T, R737T, R738Tnot providedUncertain significance
(Apr 11, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr10:123243308
GRCh38:
Chr10:121483794
FGFR2M620I, M735I, M733I, M507I, M619I, M646I, M618I, M623I, M647I, M736IInborn genetic diseasesUncertain significance
(Mar 26, 2021)		criteria provided, single submitter
81.
GRCh37:
Chr10:123243313
GRCh38:
Chr10:121483799
FGFR2M506L, M617L, M618L, M619L, M622L, M645L, M646L, M732L, M734L, M735Lnot providedUncertain significance
(May 2, 2022)		criteria provided, single submitter
82.
GRCh37:
Chr10:123243322
GRCh38:
Chr10:121483808
FGFR2FGFR2-related craniosynostosisLikely benign
(Apr 7, 2022)		criteria provided, single submitter
83.
GRCh37:
Chr10:123243662-123243663
GRCh38:
Chr10:121484148-121484149
FGFR2not providedBenign
(Sep 18, 2018)		criteria provided, single submitter
84.
GRCh37:
Chr10:123243667
GRCh38:
Chr10:121484153
FGFR2not providedBenign
(Jul 24, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr10:123244677
GRCh38:
Chr10:121485163
FGFR2not providedBenign
(Jul 24, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr10:123244834
GRCh38:
Chr10:121485320
FGFR2not providedBenign
(Jul 24, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr10:123244902
GRCh38:
Chr10:121485388
FGFR2FGFR2-related craniosynostosis, not specifiedConflicting interpretations of pathogenicity
(Jan 10, 2023)		criteria provided, conflicting interpretations
88.
GRCh37:
Chr10:123244910
GRCh38:
Chr10:121485396
FGFR2L504M, L615M, L616M, L617M, L620M, L643M, L644M, L730M, L732M, L733Mnot providedUncertain significance
(Oct 8, 2021)		criteria provided, single submitter
89.
GRCh37:
Chr10:123244914
GRCh38:
Chr10:121485400
FGFR2not provided, Crouzon syndrome, Saethre-Chotzen syndrome,
FGFR2-related craniosynostosis, Craniosynostosis syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome		Conflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
90.
GRCh37:
Chr10:123244915
GRCh38:
Chr10:121485401
FGFR2N502S, N613S, N614S, N615S, N618S, N641S, N642S, N728S, N730S, N731Snot provided, FGFR2-related craniosynostosisUncertain significance
(Feb 2, 2022)		criteria provided, multiple submitters, no conflicts
91.
GRCh37:
Chr10:123244927
GRCh38:
Chr10:121485413
FGFR2A638G, A726G, A727G, A609G, A610G, A637G, A724G, A498G, A614G, A611GAntley-Bixler syndrome without genital anomalies or disordered steroidogenesisUncertain significance
(Dec 7, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr10:123244952
GRCh38:
Chr10:121485438
FGFR2E601Q, E602Q, E603Q, E716Q, E718Q, E719Q, E490Q, E629Q, E630Q, E606QAntley-Bixler syndrome without genital anomalies or disordered steroidogenesisUncertain significance
(Oct 28, 2019)		criteria provided, single submitter
93.
GRCh37:
Chr10:123244952
GRCh38:
Chr10:121485438
FGFR2E601K, E718K, E719K, E490K, E602K, E603K, E629K, E606K, E630K, E716KFGFR2-related craniosynostosisUncertain significance
(Aug 13, 2021)		criteria provided, single submitter
94.
GRCh37:
Chr10:123244980
GRCh38:
Chr10:121485466
FGFR2not provided, FGFR2-related craniosynostosisConflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
95.
GRCh37:
Chr10:123244996
GRCh38:
Chr10:121485482
FGFR2P475L, P703L, P588L, P591L, P614L, P615L, P586L, P587L, P701L, P704LInborn genetic diseasesUncertain significance
(May 27, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr10:123244998
GRCh38:
Chr10:121485484
FGFR2not providedConflicting interpretations of pathogenicity
(Aug 5, 2018)		criteria provided, conflicting interpretations
97.
GRCh37:
Chr10:123245026
GRCh38:
Chr10:121485512
FGFR2M577T, M604T, M694T, M576T, M605T, M578T, M581T, M693T, M465T, M691TFGFR2-related craniosynostosisUncertain significance
(Oct 13, 2022)		criteria provided, single submitter
98.
GRCh37:
Chr10:123245027
GRCh38:
Chr10:121485513
FGFR2M465V, M576V, M577V, M578V, M581V, M604V, M605V, M691V, M693V, M694Vnot provided, Acrocephalosyndactyly type I, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Levy-Hollister syndrome, Pfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Crouzon syndrome, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, FGFR2-related bent bone dysplasiaGastric cancer,
...see more		Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
99.
GRCh37:
Chr10:123245034
GRCh38:
Chr10:121485520
FGFR2not providedUncertain significance
(Dec 13, 2016)		criteria provided, single submitter
100.
GRCh37:
Chr10:123245056
GRCh38:
Chr10:121485542
FGFR2not providedLikely benign
(Apr 30, 2018)		criteria provided, single submitter
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