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Items: 1 to 100 of 673

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:101953972-134246301
GRCh38:
Chr10:100194215-132432797
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, SPMIP5, 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, 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, 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, LOC102724883, LOC103344931, LOC105378479, LOC105378482, LOC105378552, LOC107984265, LOC107984281, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, 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
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, 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, LOC102724883, LOC103344931, LOC105378479, LOC105378482, LOC105378552, LOC107984265, LOC107984281, LOC107984282, LOC109136576, LOC110120845, LOC110120846, LOC110120850, LOC110120851, LOC110120852, LOC110120886, 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, SPMIP5, 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
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, SPMIP5, 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, 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, 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, LOC102724883, LOC103344931, LOC105378479, LOC105378482, LOC105378552, LOC107984281, 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
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, 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, LOC102724883, LOC103344931, LOC105378552, LOC107984281, 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, SPMIP5, 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, LOC102724883, LOC105378552, LOC107984281, 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, LOC102724883, LOC105378552, LOC107984281, 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
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, LOC102724883, LOC105378552, LOC107984281, 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, ABRAXAS2, ACADSB, ADAM12, ADAM8, ADGRA1, ADGRA1-AS1, ARMS2, AS-PTPRE, ATE1, ATE1-AS1, BCCIP
See casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
9.
GRCh37:
Chr10:122730071-135436092
GRCh38:
Chr10:120970558-133622588
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, LINC02641, LINC02667, LINC02870, LINC03068, LOC102724883, LOC105378552, LOC107984281, 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
See casesPathogenic
(Aug 27, 2012)		no assertion criteria provided
10.
GRCh37:
Chr10:123237832
GRCh38:
Chr10:121478318
FGFR2Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Craniosynostosis syndrome, Isolated coronal synostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
11.
GRCh37:
Chr10:123237869-123237873
GRCh38:
Chr10:121478355-121478359
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndrome,
Acrocephalosyndactyly type I, Pfeiffer syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Levy-Hollister syndrome, Craniofacial dysostosis
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
12.
GRCh37:
Chr10:123237882
GRCh38:
Chr10:121478368
FGFR2Isolated coronal synostosis, Saethre-Chotzen syndrome, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
13.
GRCh37:
Chr10:123237969
GRCh38:
Chr10:121478455
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
14.
GRCh37:
Chr10:123238002
GRCh38:
Chr10:121478488
FGFR2Craniofacial dysostosis, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Bent bone dysplasia syndrome 1, Beare-Stevenson cutis gyrata syndromePfeiffer syndrome,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Craniofacial dysostosis, Stomach cancer,
Saethre-Chotzen syndrome, ...see more		Uncertain significance
(Jan 13, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr10:123238052
GRCh38:
Chr10:121478538
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr10:123238070
GRCh38:
Chr10:121478556
FGFR2Craniofacial dysostosis, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Saethre-Chotzen syndrome		Benign/Likely benign
(Jan 12, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr10:123238084
GRCh38:
Chr10:121478570
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr10:123238088
GRCh38:
Chr10:121478574
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr10:123238131
GRCh38:
Chr10:121478617
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
20.
GRCh37:
Chr10:123238245
GRCh38:
Chr10:121478731
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome,
Saethre-Chotzen syndrome, Craniosynostosis syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
21.
GRCh37:
Chr10:123238301
GRCh38:
Chr10:121478787
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Craniosynostosis syndrome,
Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
22.
GRCh37:
Chr10:123238450
GRCh38:
Chr10:121478936
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
23.
GRCh37:
Chr10:123238497
GRCh38:
Chr10:121478983
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
24.
GRCh37:
Chr10:123238634-123238635
GRCh38:
Chr10:121479120-121479121
FGFR2Beare-Stevenson cutis gyrata syndrome, Isolated coronal synostosis, Craniofacial dysostosis,
Craniosynostosis syndrome, Levy-Hollister syndrome, Acrocephalosyndactyly type I,
Jackson-Weiss syndrome, Pfeiffer syndrome, Saethre-Chotzen syndrome
Uncertain significance
(Jun 14, 2016)		criteria provided, single submitter
25.
GRCh37:
Chr10:123238641
GRCh38:
Chr10:121479127
FGFR2Craniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
26.
GRCh37:
Chr10:123238697
GRCh38:
Chr10:121479183
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Craniofacial dysostosis, Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
27.
GRCh37:
Chr10:123238727-123238730
GRCh38:
Chr10:121479213-121479216
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Acrocephalosyndactyly type I, Jackson-Weiss syndrome, Saethre-Chotzen syndrome,
Levy-Hollister syndrome, Pfeiffer syndrome, Craniofacial dysostosis
Likely benign
(Jun 14, 2016)		criteria provided, single submitter
28.
GRCh37:
Chr10:123238874
GRCh38:
Chr10:121479360
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis,
Saethre-Chotzen syndrome, Craniosynostosis syndrome		Uncertain significance
(Jan 12, 2018)		criteria provided, single submitter
29.
GRCh37:
Chr10:123238902
GRCh38:
Chr10:121479388
FGFR2Isolated coronal synostosis, not provided, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
Benign
(Jun 30, 2018)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:123238908
GRCh38:
Chr10:121479394
FGFR2Craniosynostosis syndrome, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniofacial dysostosis		Uncertain significance
(Apr 27, 2017)		criteria provided, single submitter
31.
GRCh37:
Chr10:123238968
GRCh38:
Chr10:121479454
FGFR2not provided, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome
Benign/Likely benign
(Jul 15, 2018)		criteria provided, multiple submitters, no conflicts
32.
GRCh37:
Chr10:123239047
GRCh38:
Chr10:121479533
FGFR2Isolated coronal synostosis, Saethre-Chotzen syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
33.
GRCh37:
Chr10:123239112
GRCh38:
Chr10:121479598
FGFR2Craniofacial dysostosis, Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome,
Craniosynostosis syndrome, not provided, Saethre-Chotzen syndrome,
not specified		Benign
(May 9, 2018)		criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:123239115
GRCh38:
Chr10:121479601
FGFR2V702ICraniosynostosis syndrome, Saethre-Chotzen syndrome, Isolated coronal synostosis,
Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
35.
GRCh37:
Chr10:123239174
GRCh38:
Chr10:121479660
FGFR2K682fsIsolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Saethre-Chotzen syndrome,
Craniosynostosis syndrome, Craniofacial dysostosis, not provided,
Levy-Hollister syndrome, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Pfeiffer syndrome		Conflicting interpretations of pathogenicity
(Sep 6, 2022)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:123239187
GRCh38:
Chr10:121479673
FGFR2Isolated coronal synostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Saethre-Chotzen syndrome, Craniofacial dysostosis		Benign/Likely benign
(Jan 13, 2018)		criteria provided, single submitter
37.
GRCh37:
Chr10:123239260
GRCh38:
Chr10:121479746
FGFR2Isolated coronal synostosis, Craniofacial dysostosis, Craniosynostosis syndrome,
Saethre-Chotzen syndrome, 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, I816fsFGFR2-related craniosynostosis, Bent bone dysplasia syndrome 1, Pfeiffer syndrome,
Acrocephalosyndactyly type I, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Familial scaphocephaly syndrome, McGillivray type,
Craniofacial dysostosis, Stomach cancer, Levy-Hollister syndrome,
Beare-Stevenson cutis gyrata syndrome, Jackson-Weiss syndromeSaethre-Chotzen syndrome,
...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, L809PBent bone dysplasia syndrome 1, Familial scaphocephaly syndrome, McGillivray type, Craniofacial dysostosis,
Levy-Hollister syndrome, Beare-Stevenson cutis gyrata syndrome, Stomach cancer,
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I, Pfeiffer syndrome,
Jackson-Weiss syndrome, Saethre-Chotzen syndromeFGFR2-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, E690Knot provided, Isolated coronal synostosis, Saethre-Chotzen syndrome,
Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome, Craniofacial dysostosis
Conflicting interpretations of pathogenicity
(Dec 10, 2019)		criteria provided, conflicting interpretations
46.
GRCh37:
Chr10:123239422
GRCh38:
Chr10:121479908
FGFR2not provided, Craniofacial dysostosis, Isolated coronal synostosis,
FGFR2-related craniosynostosis, Beare-Stevenson cutis gyrata syndrome, Craniosynostosis syndrome,
Saethre-Chotzen 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:
Chr10:123239448
GRCh38:
Chr10:121479934
FGFR2V680F, V682F, V797F, V681F, V685F, V798F, V569F, V708F, V795FInborn genetic diseasesUncertain significance
(Jan 26, 2023)		criteria provided, single submitter
51.
GRCh37:
Chr10:123239469
GRCh38:
Chr10:121479955
FGFR2C562R, C673R, C674R, C675R, C678R, C701R, C788R, C790R, C791Rnot providedUncertain significance
(Nov 27, 2020)		criteria provided, single submitter
52.
GRCh37:
Chr10:123239497
GRCh38:
Chr10:121479983
FGFR2FGFR2-related craniosynostosisLikely benign
(Mar 20, 2022)		criteria provided, single submitter
53.
GRCh37:
Chr10:123239508
GRCh38:
Chr10:121479994
FGFR2E777K, E778K, E661K, E688K, E660K, E662K, E665K, E549K, E775Knot specifiednot provided
(Sep 19, 2013)		no assertion provided
54.
GRCh37:
Chr10:123239509
GRCh38:
Chr10:121479995
FGFR2FGFR2-related craniosynostosis, not providedBenign/Likely benign
(Aug 12, 2022)		criteria provided, multiple submitters, no conflicts
55.
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
56.
GRCh37:
Chr10:123239552
GRCh38:
Chr10:121480038
FGFR2FGFR2-related craniosynostosisLikely benign
(Aug 31, 2022)		criteria provided, single submitter
57.
GRCh37:
Chr10:123239754
GRCh38:
Chr10:121480240
FGFR2not providedLikely benign
(Oct 21, 2018)		criteria provided, single submitter
58.
GRCh37:
Chr10:123241124
GRCh38:
Chr10:121481610
FGFR2not providedBenign
(Dec 1, 2022)		criteria provided, single submitter
59.
GRCh37:
Chr10:123241341-123241342
GRCh38:
Chr10:121481827-121481828
FGFR2not providedBenign
(Jul 1, 2022)		criteria provided, single submitter
60.
GRCh37:
Chr10:123241354
GRCh38:
Chr10:121481840
FGFR2not providedBenign
(Aug 8, 2019)		criteria provided, single submitter
61.
GRCh37:
Chr10:123241355
GRCh38:
Chr10:121481841
FGFR2not providedBenign
(Aug 8, 2019)		criteria provided, single submitter
62.
GRCh37:
Chr10:123241361
GRCh38:
Chr10:121481847
FGFR2not providedBenign
(Aug 6, 2019)		criteria provided, single submitter
63.
GRCh37:
Chr10:123241373
GRCh38:
Chr10:121481859
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
64.
GRCh37:
Chr10:123241383
GRCh38:
Chr10:121481869
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
65.
GRCh37:
Chr10:123241389
GRCh38:
Chr10:121481875
FGFR2not providedBenign
(Jun 30, 2018)		criteria provided, single submitter
66.
GRCh37:
Chr10:123241496
GRCh38:
Chr10:121481982
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
67.
GRCh37:
Chr10:123241616
GRCh38:
Chr10:121482102
FGFR2not providedBenign
(Aug 14, 2018)		criteria provided, single submitter
68.
GRCh37:
Chr10:123241686
GRCh38:
Chr10:121482172
FGFR2not specifiednot provided
(Sep 19, 2013)		no assertion provided
69.
GRCh37:
Chr10:123241794
GRCh38:
Chr10:121482280
FGFR2not providedBenign
(Jun 25, 2018)		criteria provided, single submitter
70.
GRCh37:
Chr10:123242016
GRCh38:
Chr10:121482502
FGFR2not providedBenign
(Sep 1, 2022)		criteria provided, single submitter
71.
GRCh37:
Chr10:123242026
GRCh38:
Chr10:121482512
FGFR2not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
72.
GRCh37:
Chr10:123243197
GRCh38:
Chr10:121483683
FGFR2Isolated coronal synostosis, FGFR2-related craniosynostosis, not specified,
Saethre-Chotzen syndrome, Craniosynostosis syndrome, Beare-Stevenson cutis gyrata syndrome,
Craniofacial dysostosis		Benign
(Nov 4, 2022)		criteria provided, multiple submitters, no conflicts
73.
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
74.
GRCh37:
Chr10:123243230
GRCh38:
Chr10:121483716
FGFR2not providedLikely benign
(Mar 23, 2021)		criteria provided, single submitter
75.
GRCh37:
Chr10:123243266
GRCh38:
Chr10:121483752
FGFR2not providedLikely benign
(Aug 16, 2018)		criteria provided, single submitter
76.
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
77.
GRCh37:
Chr10:123243281
GRCh38:
Chr10:121483767
FGFR2FGFR2-related craniosynostosis, Stomach cancer, Beare-Stevenson cutis gyrata syndrome,
Jackson-Weiss syndrome, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, Acrocephalosyndactyly type I,
Levy-Hollister syndrome, Craniofacial dysostosis, Saethre-Chotzen syndrome,
Familial scaphocephaly syndrome, McGillivray type, Pfeiffer syndromeBent bone dysplasia syndrome 1,
not provided, ...see more		Benign/Likely benign
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
78.
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
79.
GRCh37:
Chr10:123243290
GRCh38:
Chr10:121483776
FGFR2FGFR2-related craniosynostosisLikely benign
(Apr 25, 2022)		criteria provided, single submitter
80.
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
81.
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
82.
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
83.
GRCh37:
Chr10:123243322
GRCh38:
Chr10:121483808
FGFR2FGFR2-related craniosynostosisLikely benign
(Apr 7, 2022)		criteria provided, single submitter
84.
GRCh37:
Chr10:123243662-123243663
GRCh38:
Chr10:121484148-121484149
FGFR2not providedBenign
(Sep 18, 2018)		criteria provided, single submitter
85.
GRCh37:
Chr10:123243667
GRCh38:
Chr10:121484153
FGFR2not providedBenign
(Jul 24, 2018)		criteria provided, single submitter
86.
GRCh37:
Chr10:123244677
GRCh38:
Chr10:121485163
FGFR2not providedBenign
(Jul 24, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr10:123244834
GRCh38:
Chr10:121485320
FGFR2not providedBenign
(Jul 24, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr10:123244902
GRCh38:
Chr10:121485388
FGFR2FGFR2-related craniosynostosis, not specifiedConflicting interpretations of pathogenicity
(Jan 10, 2023)		criteria provided, conflicting interpretations
89.
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
90.
GRCh37:
Chr10:123244914
GRCh38:
Chr10:121485400
FGFR2Craniofacial dysostosis, Beare-Stevenson cutis gyrata syndrome, FGFR2-related craniosynostosis,
Craniosynostosis syndrome, not provided, Isolated coronal synostosis,
Saethre-Chotzen syndrome		Conflicting interpretations of pathogenicity
(Sep 7, 2022)		criteria provided, conflicting interpretations
91.
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
92.
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
93.
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
94.
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
95.
GRCh37:
Chr10:123244980
GRCh38:
Chr10:121485466
FGFR2FGFR2-related craniosynostosis, not providedConflicting interpretations of pathogenicity
(Aug 16, 2022)		criteria provided, conflicting interpretations
96.
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
97.
GRCh37:
Chr10:123244998
GRCh38:
Chr10:121485484
FGFR2not providedConflicting interpretations of pathogenicity
(Aug 5, 2018)		criteria provided, conflicting interpretations
98.
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
99.
GRCh37:
Chr10:123245027
GRCh38:
Chr10:121485513
FGFR2M465V, M576V, M577V, M578V, M581V, M604V, M605V, M691V, M693V, M694Vnot provided, Acrocephalosyndactyly type I, Jackson-Weiss syndrome,
Levy-Hollister syndrome, Saethre-Chotzen syndrome, Familial scaphocephaly syndrome, McGillivray type,
Beare-Stevenson cutis gyrata syndrome, Stomach cancer, Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,
Craniofacial dysostosis, Pfeiffer syndromeBent bone dysplasia syndrome 1,
...see more		Uncertain significance
(Oct 11, 2021)		criteria provided, multiple submitters, no conflicts
100.
GRCh37:
Chr10:123245034
GRCh38:
Chr10:121485520
FGFR2not providedUncertain significance
(Dec 13, 2016)		criteria provided, single submitter
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