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Items: 93

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr10:96872364-118383651
GRCh38:
Chr10:95112607-116776637
LINC01435, LINC01475, LINC01514, LINC02620, LINC02624, LINC02626, LINC02627, LINC02661, LINC02681, LOC101927692, LOC102723665, LOC103344931, LOC105378448, LOC105378479, LOC105378482, LOC107984265, LOC108281165, LOC109136576, LOC110120845, LOC110120850, LOC110120886, LOC110121311, LOC110121472, LOC110121505, LOC110408762, LOC111501773, LOC111832675, LOC111875816, LOC111875817, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111982883, LOC111982884, LOC111982885, LOC111982886, LOC111982887, LOC111982888, LOC113939913, LOC113939914, LOC116216118, LOC116216119, LOC116216120, LOC116216121, LOC121366075, LOC121366076, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121815958, LOC121815959, LOC121815960, LOC121815961, LOC121815962, LOC121815963, LOC121815964, LOC121815965, LOC121815966, LOC121815967, LOC121815968, LOC121815969, LOC124416872, LOC124416873, LOC124416874, LOC124416875, LOC124416876, LOC124416877, LOC124416878, LOC124416879, LOC124416880, LOC124416884, LOC124416888, LOC124416890, LOC124416891, LOC124416892, LOC124416893, LOC124416894, LOC124416895, LOC124416896, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC126861005, LOC126861006, LOC126861007, LOC126861008, LOC126861009, LOC126861010, LOC126861011, LOC126861012, LOC126861013, LOC126861014, LOC126861015, LOC126861016, LOC126861017, LOC126861018, LOC126861019, LOC126861020, LOC126861021, LOC126861022, LOC126861023, LOC126861024, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC128772341, LOC644215, LOXL4, LZTS2, MARVELD1, MFSD13A, MIR1287, MIR1307, MIR146B, MIR2110, MIR3085, MIR3157, MIR3158-1, MIR3158-2, MIR4295, MIR4482, MIR4483, MIR4680, MIR4685, MIR548E, MIR607, MIR608, MIR609, MIR6507, MIR6715A, MIR6715B, MIR936, MMS19, MORN4, MRPL43, MXI1, NDUFB8, NEURL1, NEURL1-AS1, NFKB2, NHLRC2, NKX2-3, NOLC1, NPM3, NRAP, NT5C2, OGA, OLMALINC, OPALIN, PAX2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PDLIM1, PDZD7, PGAM1, PI4K2A, PIK3AP1, PITX3, PKD2L1, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPRC1, PSD, PYROXD2, R3HCC1L, RBM20, RPEL1, RRP12, SCD, SEC31B, SEMA4G, SFR1, SFRP5, SFXN2, SFXN3, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLC25A28, SLF2, SLIT1, SLIT1-AS1, SLK, SMC3, SMNDC1, SNORA12, SNORA87, SNORD158, SORBS1, SORCS1, SORCS3, SORCS3-AS1, SPMIP5, STN1, SUFU, TAF5, TCF7L2, TCTN3, TDRD1, TECTB, TLL2, TLX1, TLX1NB, TM9SF3, TRIM8, TRUB1, TWNK, UBTD1, VTI1A, VWA2, WBP1L, WNT8B, XPNPEP1, ZDHHC16, ZDHHC6, ZFYVE27, ZNF518A, ABCC2, ABLIM1, ACSL5, ACSM6, ACTR1A, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ALDH18A1, ANKRD2, ARHGAP19, ARHGAP19-SLIT1, ARL3, ARMH3, AS3MT, ATP5MK, ATRNL1, AVPI1, BBIP1, BLNK, BLOC1S2, BORCS7, BORCS7-ASMT, BTRC, C10orf12, C10orf131, C10orf62, C10orf95, C10orf95-AS1, CALHM1, CALHM2, CALHM3, CASP7, CC2D2B, CCDC172, CCDC186, CCNJ, CFAP43, CFAP58, CFAP58-DT, CHUK, CNNM1, CNNM2, COL17A1, COX15, CPN1, CRTAC1, CUEDC2, CUTC, CWF19L1, CYP17A1, CYP17A1-AS1, DCLRE1A, DNMBP, DNMBP-AS1, DNTT, DPCD, DUSP5, DUSP5-DT, ELOVL3, ENTPD1, ENTPD1-AS1, ENTPD7, ERLIN1, EXOSC1, FBXL15, FBXW4, FGF8, FHIP2A, FRA10B, FRAT1, FRAT2, GBF1, GFRA1, GOLGA7B, GOLGA7B-DT, GOT1, GOT1-DT, GPAM, GSTO1, GSTO2, HABP2, HEAT2, HIF1AN, HOGA1, HPS1, HPS1-AS1, HPS6, HPSE2, HSPA12A, HSPA12A-AS1, INA, ITPRIP, ITPRIP-AS1, KAZALD1, KCNIP2, KCNIP2-AS1, LBX1, LBX1-AS1, LCOR, LDB1
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
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
3.
GRCh37:
Chr10:102360249-135436092
GRCh38:
Chr10:100600492-133622588
ABLIM1, ABRAXAS2, ACADSB, ACSL5, ACTR1A, ADAM12, ADAM8, ADD3, ADD3-AS1, ADGRA1, ADGRA1-AS1, ADRA2A, ADRB1, AFAP1L2, ARL3, ARMH3, ARMS2, AS-PTPRE, AS3MT, ATE1, ATE1-AS1, ATP5MK, ATRNL1, BAG3, BBIP1, BCCIP, BNIP3, BORCS7, BORCS7-ASMT, BTBD16, BTRC, BUB3, C10orf120, C10orf143, 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
4.
GRCh37:
Chr10:104491930-115844864
GRCh38:
Chr10:102732173-114085105
ACSL5, ADD3, ADD3-AS1, ADRA2A, ADRB1, AS3MT, ATP5MK, BBIP1, BORCS7, BORCS7-ASMT, CALHM1, CALHM2, CALHM3, CASP7, CFAP43, CFAP58, CFAP58-DT, CNNM2, COL17A1, CYP17A1, CYP17A1-AS1, DCLRE1A, DUSP5, DUSP5-DT, FRA10B, GPAM, GSTO1, GSTO2, HABP2, HEAT2, INA, ITPRIP, ITPRIP-AS1, LINC01435, LINC02620, LINC02624, LINC02627, LINC02661, LOC103344931, LOC105378479, LOC105378482, LOC107984265, LOC110121472, LOC110408762, LOC111501773, LOC111875818, LOC111875819, LOC111875820, LOC111875821, LOC111875822, LOC111875823, LOC111875824, LOC111875825, LOC116216120, LOC116216121, LOC121366077, LOC121366078, LOC121366079, LOC121366080, LOC121366081, LOC121366082, LOC121815966, LOC121815967, LOC121815968, LOC124416897, LOC124416898, LOC124416899, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC126861025, LOC126861026, LOC126861027, LOC126861028, LOC126861029, LOC126861030, LOC126861031, LOC126861032, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC128772341, MIR1307, MIR4295, MIR4482, MIR4483, MIR4680, MIR548E, MIR609, MIR6715A, MIR6715B, MIR936, MXI1, NEURL1, NEURL1-AS1, NHLRC2, NRAP, NT5C2, PCGF6, PDCD11, PDCD4, PDCD4-AS1, PLEKHS1, RBM20, RPEL1, SFR1, SFXN2, SH3PXD2A, SH3PXD2A-AS1, SHOC2, SLK, SMC3, SMNDC1, SNORA87, SORCS1, SORCS3, SORCS3-AS1, STN1, TAF5, TCF7L2, TECTB, VTI1A, WBP1L, XPNPEP1, ZDHHC6
See casesPathogenic
(Apr 23, 2013)
no assertion criteria provided
5.
GRCh37:
Chr10:108950858-120521001
GRCh38:
Chr10:107191100-118761489
ABLIM1, ACSL5, ADD3, ADD3-AS1, ADRA2A, ADRB1, AFAP1L2, ATRNL1, BBIP1, CACUL1, CASC2, CASP7, CCDC172, CCDC186, DCLRE1A, DUSP5, DUSP5-DT, EMX2, EMX2OS, ENO4, FAM204A, FHIP2A, FRA10B, GFRA1, GPAM, HABP2, HEAT2, HSPA12A, HSPA12A-AS1, KCNK18, LINC00867, LINC01435, LINC02626, LINC02661, LINC02674, LOC101927692, LOC103344931, LOC105378479, LOC105378482, LOC110120919, LOC110120938, LOC110120952, LOC110121334, LOC110121396, LOC110121472, LOC111875823, LOC111875824, LOC111875825, LOC111875826, LOC111875827, LOC111875828, LOC113939914, LOC116216121, LOC116216122, LOC116216123, LOC121366081, LOC121366082, LOC121366083, LOC121366084, LOC121815968, LOC121815969, LOC121815970, LOC124416900, LOC124416901, LOC124416902, LOC124416903, LOC124416904, LOC124416905, LOC124416906, LOC124416907, LOC124416908, LOC124416909, LOC124416910, LOC124416911, LOC124416912, LOC124416913, LOC124416914, LOC124416915, LOC124416916, LOC124416917, LOC124416918, LOC126861033, LOC126861034, LOC126861035, LOC126861036, LOC126861037, LOC126861038, LOC126861039, LOC126861040, LOC126861041, LOC126861042, LOC126861043, LOC126861044, LOC126861045, LOC126861046, LOC126861047, LOC126861048, LOC126861049, LOC126861050, LOC126861051, LOC126861052, LOC126861053, LOC126861054, LOC126861055, LOC126861056, LOC126861057, LOC126861058, LOC126861059, MIR2110, MIR3663, MIR3663HG, MIR4295, MIR4483, MIR4680, MIR548E, MIR6715A, MIR6715B, MIR9851, MXI1, NHLRC2, NRAP, PDCD4, PDCD4-AS1, PDZD8, PLEKHS1, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRLHR, RAB11FIP2, RBM20, SHOC2, SHTN1, SLC18A2, SLC18A2-AS1, SMC3, SMNDC1, SNORA87, SNORD158, SPMIP5, TCF7L2, TDRD1, TECTB, TRUB1, VAX1, VTI1A, VWA2, XPNPEP1, ZDHHC6
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr10:109862345-135434178
GRCh38:
Chr10:108102587-133620674
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
7.
GRCh37:
Chr10:112564493-116643769
GRCh38:
Chr10:110804735-114884010
See casesLikely pathogenic
(Oct 24, 2012)
no assertion criteria provided
8.
GRCh37:
Chr10:112660125
GRCh38:
Chr10:110900367
BBIP1T66I, T91I, T69Inot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
9.
GRCh37:
Chr10:112660134
GRCh38:
Chr10:110900376
BBIP1R63Q, R66Q, R88QBardet-Biedl syndrome 18, not providedUncertain significance
(Sep 1, 2022)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr10:112660136
GRCh38:
Chr10:110900378
BBIP1not providedLikely benign
(Aug 24, 2019)
criteria provided, single submitter
11.
GRCh37:
Chr10:112660143
GRCh38:
Chr10:110900385
BBIP1K60R, K63R, K85Rnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
12.
GRCh37:
Chr10:112660146
GRCh38:
Chr10:110900388
BBIP1E84G, E59G, E62Gnot providedUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr10:112660148-112660149
GRCh38:
Chr10:110900390-110900391
BBIP1E62fs, E84fs, E59fsnot provided, Bardet-Biedl syndrome 18Uncertain significance
(Aug 3, 2022)
criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr10:112660152
GRCh38:
Chr10:110900394
BBIP1M57T, M82T, M60Tnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr10:112660162
GRCh38:
Chr10:110900404
BBIP1Q79E, Q54E, Q57Enot providedUncertain significance
(Feb 24, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr10:112660164
GRCh38:
Chr10:110900406
BBIP1R53H, R56H, R78HBardet-Biedl syndrome 18, not providedUncertain significance
(Oct 17, 2022)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr10:112660175
GRCh38:
Chr10:110900417
BBIP1not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr10:112660179
GRCh38:
Chr10:110900421
BBIP1A48V, A73V, A51Vnot providedUncertain significance
(Mar 17, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr10:112660180
GRCh38:
Chr10:110900422
BBIP1A51T, A73T, A48Tnot providedUncertain significance
(Aug 14, 2021)
criteria provided, single submitter
20.
GRCh37:
Chr10:112660181
GRCh38:
Chr10:110900423
BBIP1A51fs, A48fs, A73fsnot providedUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr10:112660184
GRCh38:
Chr10:110900426
BBIP1not providedLikely benign
(Jul 24, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr10:112660191-112660192
GRCh38:
Chr10:110900433-110900434
BBIP1M44fs, M47fs, M69fsnot providedUncertain significance
(Oct 13, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr10:112660198
GRCh38:
Chr10:110900440
BBIP1E42Q, E67Q, E45Qnot providedUncertain significance
(Aug 28, 2021)
criteria provided, single submitter
24.
GRCh37:
Chr10:112660202
GRCh38:
Chr10:110900444
BBIP1K40fs, K43fs, K65fsnot providedUncertain significance
(Jun 25, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr10:112660209-112660210
GRCh38:
Chr10:110900451-110900452
BBIP1L38fs, L41fs, L63fsBardet-Biedl syndrome 18Uncertain significance
(Oct 21, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr10:112660213
GRCh38:
Chr10:110900455
BBIP1T37P, T40P, T62Pnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
27.
GRCh37:
Chr10:112660216
GRCh38:
Chr10:110900458
BBIP1L61V, L39V, L36Vnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
28.
GRCh37:
Chr10:112660219
GRCh38:
Chr10:110900461
BBIP1S35P, S60P, S38Pnot providedUncertain significance
(Sep 27, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr10:112660220
GRCh38:
Chr10:110900462
BBIP1K37N, K59N, K34NBardet-Biedl syndrome 18, not providedUncertain significance
(Oct 16, 2022)
criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr10:112660222
GRCh38:
Chr10:110900464
BBIP1K37Q, K34Q, K59Qnot provided, Bardet-Biedl syndrome 18Uncertain significance
(Oct 25, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:112660223
GRCh38:
Chr10:110900465
BBIP1not providedLikely benign
(Jul 28, 2021)
criteria provided, single submitter
32.
GRCh37:
Chr10:112660224
GRCh38:
Chr10:110900466
BBIP1L58*, L33*, L36*Bardet-Biedl syndrome 18Pathogenic
(Feb 1, 2014)
no assertion criteria provided
33.
GRCh37:
Chr10:112660229
GRCh38:
Chr10:110900471
BBIP1Bardet-Biedl syndrome 18, not providedLikely benign
(Oct 26, 2022)
criteria provided, multiple submitters, no conflicts
34.
GRCh37:
Chr10:112660239
GRCh38:
Chr10:110900481
BBIP1P31H, P53H, P28Hnot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr10:112660244
GRCh38:
Chr10:110900486
BBIP1not providedLikely benign
(Aug 12, 2021)
criteria provided, single submitter
36.
GRCh37:
Chr10:112660246-112660247
GRCh38:
Chr10:110900488-110900489
BBIP1Bardet-Biedl syndrome 18, not providedUncertain significance
(Oct 5, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr10:112660247
GRCh38:
Chr10:110900489
BBIP1V103MBardet-Biedl syndrome 18, not providedLikely benign
(Oct 3, 2022)
criteria provided, multiple submitters, no conflicts
38.
GRCh37:
Chr10:112660255
GRCh38:
Chr10:110900497
BBIP1M26V, N100S, M23V, M48VBardet-Biedl syndrome 18, not provided, Inborn genetic diseases
Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
39.
GRCh37:
Chr10:112660260-112660262
GRCh38:
Chr10:110900502-110900504
BBIP1I45del, N98del, I20del, I23delnot providedUncertain significance
(Aug 6, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr10:112660260
GRCh38:
Chr10:110900502
BBIP1M24T, M46T, M21TBardet-Biedl syndrome 18, not providedConflicting interpretations of pathogenicity
(Nov 1, 2022)
criteria provided, conflicting interpretations
41.
GRCh37:
Chr10:112660263
GRCh38:
Chr10:110900505
BBIP1I45T, I20T, I23Tnot providedUncertain significance
(Apr 1, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr10:112660263
GRCh38:
Chr10:110900505
BBIP1I45K, Y97*, I23K, I20Knot providedUncertain significance
(Sep 16, 2018)
no assertion criteria provided
43.
GRCh37:
Chr10:112660270
GRCh38:
Chr10:110900512
BBIP1E18K, E21K, E43K, G95EInborn genetic diseases, not providedConflicting interpretations of pathogenicity
(Oct 7, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr10:112660273
GRCh38:
Chr10:110900515
BBIP1C94F, V17L, V20L, V42Lnot providedUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr10:112660281
GRCh38:
Chr10:110900523
BBIP1P14L, P17L, P39Lnot provided, Bardet-Biedl syndrome 18Uncertain significance
(Aug 16, 2022)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr10:112660289
GRCh38:
Chr10:110900531
BBIP1not providedLikely benign
(Jun 22, 2021)
criteria provided, single submitter
47.
GRCh37:
Chr10:112660295
GRCh38:
Chr10:110900537
BBIP1not providedBenign
(Jul 19, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr10:112661295
GRCh38:
Chr10:110901537
BBIP1not providedUncertain significance
(Jul 26, 2021)
criteria provided, single submitter
49.
GRCh37:
Chr10:112661296
GRCh38:
Chr10:110901538
BBIP1G16R, G38R, R90Knot providedUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr10:112661299
GRCh38:
Chr10:110901541
BBIP1A89V, Q37*, Q15*Flat nasal alae, Downslanted palpebral fissures, Hypogonadotropic hypogonadism 7 with or without anosmia,
Narrow forehead, Round face, Specific learning disability,
Obesity, Micropenis, Postaxial hand polydactyly,
Rod-cone dystrophy
Pathogenicno assertion criteria provided
51.
GRCh37:
Chr10:112661316
GRCh38:
Chr10:110901558
BBIP1R31Q, R9Qnot providedLikely benign
(Nov 1, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr10:112661316-112661317
GRCh38:
Chr10:110901558-110901559
BBIP1R9fs, S85fs, R31fsnot providedUncertain significance
(Jan 6, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr10:112661317
GRCh38:
Chr10:110901559
BBIP1R9W, P83L, R31Wnot providedUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr10:112661323
GRCh38:
Chr10:110901565
BBIP1M7V, N81S, M29VBardet-Biedl syndrome 18, not providedUncertain significance
(Jul 6, 2022)
criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:112661355-112661356
GRCh38:
Chr10:110901597-110901598
BBIP1Q71fs, S18fsnot providedUncertain significance
(Apr 25, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr10:112661358
GRCh38:
Chr10:110901600
BBIP1I17K, Y69*Bardet-Biedl syndrome 18, not providedUncertain significance
(Jun 24, 2022)
criteria provided, multiple submitters, no conflicts
57.
GRCh37:
Chr10:112661362
GRCh38:
Chr10:110901604
BBIP1T16S, H68LBardet-Biedl syndrome 18, not providedUncertain significance
(Oct 13, 2022)
criteria provided, multiple submitters, no conflicts
58.
GRCh37:
Chr10:112661363
GRCh38:
Chr10:110901605
BBIP1H68D, N15Knot providedUncertain significance
(Sep 13, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr10:112661364
GRCh38:
Chr10:110901606
BBIP1N15fs, K67fsnot providedUncertain significance
(Sep 9, 2019)
criteria provided, single submitter
60.
GRCh37:
Chr10:112661376
GRCh38:
Chr10:110901618
BBIP1not providedUncertain significance
(Oct 26, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr10:112661383
GRCh38:
Chr10:110901625
BBIP1not providedUncertain significance
(Apr 9, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr10:112661390
GRCh38:
Chr10:110901632
BBIP1not providedLikely benign
(Feb 5, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr10:112667441
GRCh38:
Chr10:110907683
BBIP1A64GBardet-Biedl syndrome 18Uncertain significance
(Mar 5, 2018)
criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:112677869
GRCh38:
Chr10:110918111
BBIP1not providedLikely benign
(Aug 16, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr10:112677870
GRCh38:
Chr10:110918112
BBIP1not providedLikely benign
(Jul 19, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr10:112677872-112677873
GRCh38:
Chr10:110918114-110918115
BBIP1not providedBenign
(Aug 19, 2020)
criteria provided, single submitter
67.
GRCh37:
Chr10:112677876
GRCh38:
Chr10:110918118
BBIP1Bardet-Biedl syndrome 18, not providedUncertain significance
(Nov 22, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:112677890
GRCh38:
Chr10:110918132
BBIP1P9Lnot providedUncertain significance
(Oct 3, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr10:112677908-112677909
GRCh38:
Chr10:110918150-110918151
BBIP1K3fsnot providedUncertain significance
(Jan 31, 2020)
criteria provided, single submitter
70.
GRCh37:
Chr10:112677910
GRCh38:
Chr10:110918152
BBIP1not providedLikely benign
(Aug 22, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr10:112678875
GRCh38:
Chr10:110919117
BBIP1Bardet-Biedl syndrome 18Uncertain significance
(Sep 23, 2021)
criteria provided, single submitter
72.
GRCh37:
Chr10:11138692-135427143
MTG1, NPS, PDCD4, PDE6C, PDLIM1, OGDHL, OIT3, OLAH, OPALIN, MTPAP, MYO3A, MYOF, MYOZ1, MYPN, MXI1, MTRNR2L5, MTRNR2L7, NPY4R, NRAP, NRBF2, OGA, MBL2, MCM10, MCMBP, MCU, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT, A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8
Distal trisomy 10qPathogenicno assertion criteria provided
73.
GRCh37:
Chr10:12829206-135427143
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASCC1, ATAD1, ATE1, ATOH7, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf120, C10orf126, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDH23, CDHR1, CDK1, CDNF, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHX32, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GBF1, GDF10, GDF2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KLLN, KNDC1, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKG1, PRLHR, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEMA4G, SEPHS1, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPMIP5, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF5, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UNC5B, UROS, USP54, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT
Distal 10q deletion syndromePathogenicno assertion criteria provided
74.
GRCh37:
Chr10:111860412-112839579
ADRA2A, BBIP1, DUSP5, MXI1, ADD3, PDCD4, RBM20, SHOC2, SMC3, SMNDC1Cornelia de Lange syndrome 3Uncertain significance
(Sep 27, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr10:112404213-112771576
BBIP1, PDCD4, SHOC2, RBM20Dilated cardiomyopathy 1DDUncertain significance
(May 4, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr10:108455687-135427143
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr10:104030479-115410590
not specifiedPathogenic
(Mar 1, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr10:112404213-112771576
BBIP1, PDCD4, RBM20, SHOC2Dilated cardiomyopathy 1DDUncertain significance
(May 5, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr10:107092654-117852548
not providedUncertain significance
(Mar 1, 2021)
no assertion criteria provided
80.
GRCh37:
Chr10:110022170-135439095
not providedPathogenic
(Nov 1, 2018)
criteria provided, single submitter
81.
GRCh37:
Chr10:112603026-112820506
PDCD4, SHOC2, BBIP1not providedBenign
(Nov 8, 2012)
no assertion criteria provided
82.
GRCh37:
Chr10:112559414-112668381
RBM20, PDCD4, BBIP1not providedBenign
(Apr 9, 2013)
no assertion criteria provided
83.
GRCh37:
Chr10:98087-135477883
A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRG2B, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1, PALD1, PANK1, PAOX, PAPSS2, PARD3, PARG, PAX2, PBLD, PCBD1, PCDH15, PCGF5, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDSS1, PDZD7, PDZD8, PFKFB3, PFKP, PGAM1, PGBD3, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLA2G12B, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLPP4, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
84.
GRCh37:
Chr10:73232-135524321
PNLIPRP3, POLL, POLR3A, PPA1, PPIF, PPP1R3C, PPP2R2D, PPP3CB, PPRC1, PRAP1, PRDX3, PRF1, PRINS, PRKCQ, PRKG1, PRLHR, PROSER2, PRPF18, PRTFDC1, PRXL2A, PSAP, PSD, PSTK, PTCHD3, PTEN, PTER, PTF1A, PTPN20, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RAB18, RASGEF1A, RASSF4, RBM17, RBM20, RBP3, RBP4, REEP3, RET, RGR, RGS10, RHOBTB1, RNLS, RPP30, RPP38, RPP38-DT, RPS24, RRP12, RSU1, RTKN2, RUFY2, SAMD8, SAR1A, SCD, SEC23IP, SEC24C, SEC31B, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFR1, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN2, SFXN3, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SHLD2, SHOC2, SHTN1, SIRT1, SKIDA1, SLC16A12, SLC16A9, SLC18A2, SLC18A3, SLC25A16, SLC25A28, SLC29A3, SLC35G1, SLC39A12, SLF2, SLIT1, SLK, SMC3, SMNDC1, SNCG, SNORA12, SORBS1, SORCS1, SORCS3, SPAG6, SPOCK2, SPRN, SRGN, ST8SIA6, STAM, STAMBPL1, STK32C, STN1, STOX1, SUFU, SUPV3L1, SUV39H2, SVIL, SYCE1, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TASOR2, TBATA, TBC1D12, TCERG1L, TCERG1L-AS1, TCF7L2, TCTN3, TDRD1, TECTB, TET1, TEX36, TFAM, THNSL1, TIAL1, TIMM23, TLL2, TLX1, TLX1NB, TM9SF3, TMEM254, TMEM26, TMEM273, TMEM72, TNKS2, TRDMT1, TRIM8, TRUB1, TSPAN14, TSPAN15, TUBAL3, TUBB8, TUBGCP2, TWNK, TYSND1, UBE2D1, UBTD1, UCMA, UCN3, UNC5B, UPF2, UROS, USP54, USP6NL, UTF1, VAX1, VCL, VDAC2, VENTX, VIM, VPS26A, VSIR, VSTM4, VTI1A, VWA2, WAC, WAPL, WASHC2A, WASHC2C, WBP1L, WDFY4, WDR11, WDR37, WNT8B, XPNPEP1, YME1L1, ZCCHC24, ZDHHC16, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMIZ1, ZMYND11, ZNF22, ZNF22-AS1, ZNF239, ZNF248, ZNF25, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF488, ZNF503, ZNF511, ZNF518A, ZRANB1, ZSWIM8, ZWINT, A1CF, ABCC2, ABI1, ABLIM1, ABRAXAS2, ACADSB, ACBD5, ACBD7, ACSL5, ACSM6, ACTA2, ACTR1A, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADGRA1, ADIRF, ADIRF-AS1, ADK, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP10, AGAP11, AGAP4, AGAP5, AGAP6, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1E2, ALDH18A1, ALOX5, ANAPC16, ANK3, ANKRD1, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ANXA7, ANXA8, ANXA8L1, AP3M1, APBB1IP, ARHGAP12, ARHGAP19, ARHGAP21, ARHGAP22, ARID5B, ARL3, ARL5B, ARMC3, ARMH3, ARMS2, AS3MT, ASAH2, ASAH2B, ASB13, ASCC1, ATAD1, ATE1, ATOH7, ATP5F1C, ATP5MK, ATRNL1, AVPI1, BAG3, BAMBI, BBIP1, BCCIP, BEND7, BICC1, BLNK, BLOC1S2, BMI1, BMPR1A, BMS1, BNIP3, BORCS7, BTAF1, BTBD16, BTRC, BUB3, C10orf105, C10orf113, C10orf12, C10orf120, C10orf126, C10orf131, C10orf53, C10orf55, C10orf62, C10orf67, C10orf71, C10orf82, C10orf88, C10orf90, C10orf95, C1QL3, CABCOCO1, CACNB2, CACUL1, CALHM1, CALHM2, CALHM3, CALML3, CALML3-AS1, CALML5, CALY, CAMK1D, CAMK2G, CASC2, CASP7, CC2D2B, CCAR1, CCDC172, CCDC186, CCDC3, CCDC6, CCDC7, CCNJ, CCNY, CCSER2, CDC123, CDH23, CDHR1, CDK1, CDNF, CELF2, CEP55, CFAP43, CFAP46, CFAP58, CFAP70, CH25H, CHAT, CHCHD1, CHST15, CHST3, CHUK, CISD1, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COMMD3, COMMD3-BMI1, COMTD1, COX15, CPEB3, CPN1, CPXM2, CREM, CRTAC1, CSGALNACT2, CSTF2T, CTBP2, CTNNA3, CUBN, CUEDC2, CUL2, CUTC, CUZD1, CWF19L1, CXCL12, CYP17A1, CYP26A1, CYP26C1, CYP2C18, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDIT4, DDX21, DDX50, DENND10, DEPP1, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC12, DNAJC9, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DRGX, DUSP13B, DUSP29, DUSP5, DYDC1, DYDC2, EBF3, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EEF1AKMT2, EGR2, EIF3A, EIF4EBP2, EIF5AL1, ELOVL3, EMX2, EMX2OS, ENKUR, ENO4, ENTPD1, ENTPD7, EPC1, ERCC6, ERLIN1, EXOC6, EXOSC1, FAM107B, FAM13C, FAM149B1, FAM170B, FAM171A1, FAM204A, FAM241B, FAM24A, FAM24B, FAM25A, FAM25C, FAM25E, FAM25G, FAM53B, FANK1, FAS, FAS-AS1, FBH1, FBXL15, FBXW4, FFAR4, FGF8, FGFBP3, FGFR2, FHIP2A, FOXI2, FRA10AC1, FRAT1, FRAT2, FRG2B, FRMD4A, FRMPD2, FUOM, FUT11, FXYD4, FZD8, GAD2, GATA3, GBF1, GDF10, GDF2, GDI2, GFRA1, GHITM, GJD4, GLRX3, GLUD1, GOLGA7B, GOT1, GPAM, GPR158, GPR15LG, GPR26, GPRIN2, GRID1, GRK5, GSTO1, GSTO2, GTPBP4, HABP2, HACD1, HECTD2, HELLS, HERC4, HHEX, HIF1AN, HK1, HKDC1, HMX2, HMX3, HNRNPF, HNRNPH3, HOGA1, HPS1, HPS6, HPSE2, HSPA12A, HSPA14, HTR7, HTRA1, IDE, IDI1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IKZF5, IL15RA, IL2RA, INA, INPP5A, INPP5F, INSYN2A, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, ITPRIP, JAKMIP3, JCAD, JMJD1C, KAT6B, KAZALD1, KCNIP2, KCNK18, KCNMA1, KIAA1217, KIF11, KIF20B, KIF5B, KIFBP, KIN, KLF6, KLLN, KNDC1, LARP4B, LBX1, LCOR, LDB1, LDB3, LGI1, LHPP, LINC01166, LINC01520, LINC02870, LIPA, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC100131132, LOC101929662, LOXL4, LRIT1, LRIT2, LRMDA, LRRC18, LRRC20, LRRC27, LRRTM3, LYZL1, LYZL2, LZTS2, MACROH2A2, MAP3K8, MAPK8, MARCHF5, MARCHF8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MCU, MEIG1, MFSD13A, MGMT, MICU1, MINDY3, MINPP1, MIR107, MIR146B, MIR1915, MIR1915HG, MIR346, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MORN4, MPP7, MRPL43, MRPS16, MSMB, MSRB2, MSS51, MTG1, MTPAP, MTRNR2L5, MTRNR2L7, MXI1, MYO3A, MYOF, MYOZ1, MYPN, NANOS1, NCOA4, NDST2, NDUFB8, NEBL, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX1-2, NKX2-3, NKX6-2, NMT2, NOC3L, NODAL, NOLC1, NPFFR1, NPM3, NPS, NPY4R, NRAP, NRBF2, NRG3, NRP1, NSMCE4A, NSUN6, NT5C2, NUDT13, NUDT5, NUTM2A, NUTM2B, OAT, ODAD2, OGA, OGDHL, OIT3, OLAH, OPALIN, OPN4, OPTN, OR13A1, OTUD1, P4HA1,