657[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1489451.	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3 GRCh37: Chr10:52489127-88906961 GRCh38: Chr10:50729367-87147204	LOC126860964, LOC126860965, LOC126860966, LOC126860967, LOC126860968, LOC126860969, LOC126860970, LOC126860971, LOC126860972, LOC126860973, LOC126860974, LOC126860975, LOC126860976, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC128462378, LOC128462379, LOC128462381, LOC128462387, LOC128462388, LOC128462389, LOC128462390, LOC128462391, LOC128462398, LOC128462399, LOC128462400, LOC128462401, LOC128462402, LOC128462403, LOC128462404, LOC128462405, LOC128462406, LOC128462407, LOC283045, LOC642361, LOC729815, LRIT1, LRIT2, LRMDA, LRRC20, LRRTM3, MACROH2A2, MAT1A, MBL2, MCU, MICU1, MIR1254-1, MIR1296, MIR346, MIR3924, MIR4676, MIR548F1, MIR605, MIR606, MIR7151, MIR7152, MMRN2, MRLN, MRPS16, MSS51, MTRNR2L5, MYOZ1, MYPN, NDST2, NDST2-ZSWIM8-AS1, NEUROG3, NODAL, NPFFR1, NRBF2, NRG3, NRG3-AS1, NUDT13, NUTM2B, NUTM2B-AS1, NUTM2E, OIT3, OPN4, P4HA1, PALD1, PBLD, PCBD1, PCDH15, PHYHIPL, PLA2G12B, PLAC9, PLAU, POLR3A, PPA1, PPIF, PPP3CB, PPP3CB-AS1, PRF1, PRKG1, PRKG1-AS1, PRXL2A, PSAP, REEP3, RGR, RHOBTB1, RPS24, RTKN2, RUFY2, SAMD8, SAR1A, SEC24C, SFTPA1, SFTPA2, SFTPD, SGPL1, SH2D4B, SHLD2, SIRT1, SLC16A9, SLC25A16, SLC29A3, SNCG, SNORA11F, SNORD172, SNORD98, SPOCK2, SRGN, STOX1, SUPV3L1, SYNPO2L, SYNPO2L-AS1, TACR2, TBATA, TET1, TFAM, TMEM254, TMEM254-AS1, TMEM26, TMEM26-AS1, TRS-TGA1-1, TSPAN14, TSPAN14-AS1, TSPAN15, TYSND1, UBE2D1, UNC5B, UNC5B-AS1, USP54, VCL, VDAC2, VPS26A, VSIR, WAPL, ZCCHC24, ZMIZ1, ZMIZ1-AS1, ZNF365, ZNF503, ZNF503-AS1, ZNF503-AS2, ZSWIM8, ZSWIM8-AS1, ZWINT, A1CF, ADAMTS14, ADIRF, ADIRF-AS1, ADK, ADO, AGAP11, AGAP5, AIFM2, ANAPC16, ANK3, ANK3-DT, ANXA11, ANXA7, AP3M1, ARID5B, ASAH2B, ASCC1, ATOH7, BICC1, BMPR1A, C10orf105, C10orf55, CABCOCO1, CAMK2G, CCAR1, CCDC6, CCEPR, CCSER2, CDH23, CDH23-AS1, CDHR1, CDK1, CERNA2, CFAP70, CHCHD1, CHST3, CISD1, COL13A1, COMTD1, CSTF2T, CTNNA3, DDIT4, DDX21, DDX50, DKK1, DLG5, DLG5-AS1, DNA2, DNAJB12, DNAJC12, DNAJC9, DNAJC9-AS1, DUSP13A, DUSP13B, DUSP29, DYDC1, DYDC2, ECD, EGR2, EIF4EBP2, EIF5AL1, FAM13C, FAM149B1, FAM241B, FAM25A, FUT11, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, HERC4, HK1, HKDC1, HNRNPH3, IPMK, JMJD1C, JMJD1C-AS1, JMJD1C-AS2, KAT6B, KCNMA1, KCNMA1-AS1, KCNMA1-AS2, KCNMA1-AS3, KIFBP, LDB3, LINC00595, LINC00844, LINC00845, LINC00856, LINC00857, LINC00858, LINC01515, LINC01519, LINC01520, LINC01553, LINC02621, LINC02622, LINC02636, LINC02647, LINC02650, LINC02651, LINC02655, LINC02671, LINC02672, LINC02679, LNCAROD, LOC100130698, LOC100131132, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102723703, LOC102724719, LOC105378305, LOC105378311, LOC105378367, LOC105378396, LOC107832851, LOC107984236, LOC108178982, LOC110120849, LOC110120879, LOC110120903, LOC110120929, LOC110121364, LOC110121366, LOC110121379, LOC110121382, LOC110121427, LOC110121428, LOC110121445, LOC110121470, LOC110121485, LOC110121486, LOC110121496, LOC111365158, LOC111365164, LOC111365175, LOC111365196, LOC111413023, LOC111946247, LOC111946248, LOC111946249, LOC111946250, LOC111949323, LOC111982863, LOC111982864, LOC111982865, LOC111982866, LOC111982867, LOC111982868, LOC111982869, LOC111982870, LOC111982871, LOC111982872, LOC111982873, LOC111982875, LOC111982876, LOC111982877, LOC111982878, LOC112268068, LOC113939917, LOC116216113, LOC116216114, LOC116216115, LOC116216116, LOC120807611, LOC121366056, LOC121366057, LOC121366058, LOC121366059, LOC121366060, LOC121366061, LOC121366062, LOC121366063, LOC121366064, LOC121366065, LOC121366066, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815939, LOC121815940, LOC121815941, LOC121815942, LOC121815943, LOC121815944, LOC121815945, LOC121815946, LOC121815947, LOC121815948, LOC121815949, LOC121815950, LOC121815951, LOC121815952, LOC121815953, LOC124403956, LOC124403957, LOC124403958, LOC124403959, LOC124403960, LOC124403961, LOC124403962, LOC124403963, LOC124403966, LOC124403967, LOC124403968, LOC124403969, LOC124403970, LOC124403971, LOC124403972, LOC124403973, LOC124403974, LOC124403975, LOC124403976, LOC124416833, LOC124416834, LOC124416835, LOC124416836, LOC124416837, LOC124416838, LOC124416839, LOC124416840, LOC124416841, LOC124416842, LOC124416843, LOC124416844, LOC124416845, LOC124416846, LOC124416847, LOC124416848, LOC124416849, LOC124416850, LOC124416851, LOC124416852, LOC124416853, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860934, LOC126860935, LOC126860936, LOC126860937, LOC126860938, LOC126860939, LOC126860940, LOC126860941, LOC126860942, LOC126860943, LOC126860944, LOC126860945, LOC126860946, LOC126860947, LOC126860948, LOC126860949, LOC126860950, LOC126860951, LOC126860952, LOC126860953, LOC126860954, LOC126860955, LOC126860956, LOC126860957, LOC126860958, LOC126860959, LOC126860960, LOC126860961, LOC126860962, LOC126860963		See cases	Pathogenic (Dec 16, 2011)	no assertion criteria provided
Select item 1532762.	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1 GRCh37: Chr10:81449116-88983530 GRCh38: Chr10:79689360-87223773	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2B, NUTM2B-AS1, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Mar 24, 2014)	no assertion criteria provided
Select item 587483.	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1 GRCh37: Chr10:81479185-89118151 GRCh38: Chr10:79719429-87358394	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC00863, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2A, NUTM2A-AS1, NUTM2B-AS1, NUTM2D, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1473674.	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1 GRCh37: Chr10:81561459-88828018 GRCh38: Chr10:79802022-87068261	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2B-AS1, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 587515.	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1 GRCh37: Chr10:81561459-89118151 GRCh38: Chr10:79802022-87358394	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC00863, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LOC642361, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2A, NUTM2A-AS1, NUTM2B-AS1, NUTM2D, NUTM2E, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1551116.	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1 GRCh37: Chr10:81640994-88940429 GRCh38: Chr10:79881238-87180672	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Dec 10, 2012)	no assertion criteria provided
Select item 597027.	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3 GRCh37: Chr10:81640994-88941874 GRCh38: Chr10:79881238-87182117	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 330968.	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1 GRCh37: Chr10:81641918-88828018 GRCh38: Chr10:79882162-87068261	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Dec 22, 2010)	no assertion criteria provided
Select item 587579.	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1 GRCh37: Chr10:81658272-88869584 GRCh38: Chr10:79898516-87109827	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5875510.	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1 GRCh37: Chr10:81658272-89118151 GRCh38: Chr10:79898516-87358394	ADIRF, ADIRF-AS1, AGAP11, ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, FAM25A, GHITM, GLUD1, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC00863, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC111982878, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LOC126860989, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SHLD2, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 5875411.	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1 GRCh37: Chr10:81658272-88724124 GRCh38: Chr10:79898516-86964367	ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, GHITM, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC121366067, LOC121366068, LOC121366069, LOC121366070, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, SNCG, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 14602212.	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1 GRCh37: Chr10:81685369-88711465 GRCh38: Chr10:79925613-86951708	ANXA11, BMPR1A, CCSER2, CDHR1, CERNA2, DYDC1, DYDC2, GHITM, GPR15LG, GRID1, GRID1-AS1, LDB3, LINC00857, LINC00858, LINC01519, LINC01520, LINC02647, LINC02650, LINC02655, LOC100130698, LOC101929662, LOC102723703, LOC105378396, LOC110121486, LOC111982876, LOC111982877, LOC121366067, LOC121366068, LOC121366069, LOC121815953, LOC124416854, LOC124416855, LOC124416856, LOC124416857, LOC124416858, LOC124416859, LOC124416860, LOC124416861, LOC126860977, LOC126860978, LOC126860979, LOC126860980, LOC126860981, LOC126860982, LOC126860983, LOC126860984, LOC126860985, LOC126860986, LOC126860987, LOC126860988, LRIT1, LRIT2, MAT1A, MIR346, MMRN2, NRG3, NRG3-AS1, OPN4, PLAC9, PRXL2A, RGR, SFTPD, SH2D4B, TMEM254, TMEM254-AS1, TSPAN14, TSPAN14-AS1, WAPL		See cases	Pathogenic (Nov 30, 2010)	no assertion criteria provided
Select item 5970313.	GRCh38/hg38 10q23.1-23.31(chr10:84434981-89150802)x3 GRCh37: Chr10:86194737-90910559 GRCh38: Chr10:84434981-89150802	ACTA2, ACTA2-AS1, ADIRF, ADIRF-AS1, AGAP11, ANKRD22, ATAD1, BMPR1A, CCSER2, FAM245A, FAM25A, FAS, FAS-AS1, GLUD1, GRID1, GRID1-AS1, KLLN, LDB3, LINC00863, LINC01519, LINC01520, LINC02647, LIPF, LIPJ, LIPK, LIPM, LIPN, LOC101929662, LOC110121486, LOC111982877, LOC111982878, LOC116216117, LOC121366069, LOC121366070, LOC121366071, LOC121815954, LOC124416859, LOC124416860, LOC124416861, LOC124416862, LOC124416863, LOC124416864, LOC126860987, LOC126860988, LOC126860989, LOC126860990, LOC126860991, LOC126860992, LOC126860993, MINPP1, MIR346, MIR4678, MIR4679-1, MIR4679-2, MMRN2, NUTM2A, NUTM2A-AS1, NUTM2D, OPN4, PAPSS2, PTEN, RNLS, SHLD2, SNCG, STAMBPL1, WAPL		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 15532814.	GRCh38/hg38 10q23.2(chr10:86693570-86764726)x3 GRCh37: Chr10:88453327-88524483 GRCh38: Chr10:86693570-86764726	BMPR1A, LDB3		See cases	Uncertain significance (Mar 24, 2014)	no assertion criteria provided
Select item 66119815.	NC_000010.11:g.(?_86755016)_(87965482_?)del GRCh37: Chr10:88514773-89725239 GRCh38: Chr10:86755016-87965482	FAM245A, FAM25A, GLUD1, KLLN, LINC00863, LOC111982877, LOC111982878, LOC116216117, LOC121366070, LOC121366071, LOC126860989, LOC126860990, LOC126860991, MINPP1, NUTM2A-AS1, NUTM2D, PAPSS2, MIR4678, MMRN2, LOC124416862, LOC124416863, NUTM2A, ADIRF, ADIRF-AS1, AGAP11, ATAD1, BMPR1A, PTEN, SHLD2, SNCG		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Mar 6, 2019)	criteria provided, single submitter
Select item 65844016.	NC_000010.11:g.(?_86755016)_(86756919_?)del GRCh37: Chr10:88514773-88516676 GRCh38: Chr10:86755016-86756919	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome	Likely pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 63938617.	NC_000010.11:g.(?_86755016)_(86923729_?)del GRCh37: Chr10:88514773-88683486 GRCh38: Chr10:86755016-86923729	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Nov 11, 2018)	criteria provided, single submitter
Select item 58428718.	NC_000010.10:g.(?_88514773)_(88683486_?)dup GRCh37: Chr10:88514773-88683486 GRCh38: Chr10:86755016-86923729	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Nov 19, 2019)	criteria provided, single submitter
Select item 58403219.	NC_000010.11:g.(?_86755016)_(86757045_?)del GRCh37: Chr10:88514773-88516802 GRCh38: Chr10:86755016-86757045	BMPR1A		Juvenile polyposis syndrome, Generalized juvenile polyposis/juvenile polyposis coli	Likely pathogenic (Aug 16, 2021)	criteria provided, single submitter
Select item 122969820.	Single allele GRCh37: Chr10:88515966 GRCh38: Chr10:86756209	BMPR1A		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 119522221.	Single allele GRCh37: Chr10:88516068 GRCh38: Chr10:86756311	BMPR1A		not provided	Likely benign (Jun 15, 2019)	criteria provided, single submitter
Select item 127703922.	Single allele GRCh37: Chr10:88516090 GRCh38: Chr10:86756333	BMPR1A		not provided	Benign (Jun 14, 2019)	criteria provided, single submitter
Select item 120170323.	Single allele GRCh37: Chr10:88516170 GRCh38: Chr10:86756413	BMPR1A		not provided	Likely benign (Jul 23, 2018)	criteria provided, single submitter
Select item 126436224.	Single allele GRCh37: Chr10:88516342 GRCh38: Chr10:86756585	BMPR1A		not provided	Benign (Aug 19, 2019)	criteria provided, single submitter
Select item 57170025.	NM_004329.3(BMPR1A):c.-547_-268+1del GRCh37: Chr10:88516395-88516675 GRCh38: Chr10:86756638-86756918	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Pathogenic (Dec 25, 2018)	criteria provided, single submitter
Select item 88028126.	NM_004329.3(BMPR1A):c.-534G>A GRCh37: Chr10:88516410 GRCh38: Chr10:86756653	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88028227.	NM_004329.3(BMPR1A):c.-500A>C GRCh37: Chr10:88516444 GRCh38: Chr10:86756687	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30134528.	NM_004329.3(BMPR1A):c.-473G>A GRCh37: Chr10:88516471 GRCh38: Chr10:86756714	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 88028329.	NM_004329.3(BMPR1A):c.-468G>A GRCh37: Chr10:88516476 GRCh38: Chr10:86756719	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 30134630.	NM_004329.3(BMPR1A):c.-447T>C GRCh37: Chr10:88516497 GRCh38: Chr10:86756740	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 30134731.	NM_004329.3(BMPR1A):c.-349T>C GRCh37: Chr10:88516595 GRCh38: Chr10:86756838	BMPR1A		not provided, Generalized juvenile polyposis/juvenile polyposis coli	Benign (Apr 27, 2017)	criteria provided, multiple submitters, no conflicts
Select item 87750032.	NM_004329.3(BMPR1A):c.-336C>T GRCh37: Chr10:88516608 GRCh38: Chr10:86756851	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87750133.	NM_004329.3(BMPR1A):c.-314C>T GRCh37: Chr10:88516630 GRCh38: Chr10:86756873	BMPR1A		Generalized juvenile polyposis/juvenile polyposis coli	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 51317634.	NM_004329.3(BMPR1A):c.-287A>T GRCh37: Chr10:88516657 GRCh38: Chr10:86756900	BMPR1A		not specified	Likely benign (Nov 8, 2017)	criteria provided, single submitter
Select item 18207235.	NM_004329.3(BMPR1A):c.-287A>G GRCh37: Chr10:88516657 GRCh38: Chr10:86756900	BMPR1A		not specified, Generalized juvenile polyposis/juvenile polyposis coli	Conflicting interpretations of pathogenicity (Apr 27, 2017)	criteria provided, conflicting interpretations
Select item 37756036.	NM_004329.3(BMPR1A):c.-283G>A GRCh37: Chr10:88516661 GRCh38: Chr10:86756904	BMPR1A		not specified	Likely benign (Apr 14, 2017)	criteria provided, single submitter
Select item 51239537.	NM_004329.3(BMPR1A):c.-277T>C GRCh37: Chr10:88516667 GRCh38: Chr10:86756910	BMPR1A		not specified	Likely benign (Sep 25, 2017)	criteria provided, single submitter
Select item 50739938.	NM_004329.3(BMPR1A):c.-275G>C GRCh37: Chr10:88516669 GRCh38: Chr10:86756912	BMPR1A		not specified	Likely benign (Feb 13, 2017)	criteria provided, single submitter
Select item 38010939.	NM_004329.3(BMPR1A):c.-268+15C>G GRCh37: Chr10:88516691 GRCh38: Chr10:86756934	BMPR1A		not specified	Likely benign (Aug 16, 2016)	criteria provided, single submitter
Select item 124072240.	NM_004329.3(BMPR1A):c.-268+18G>C GRCh37: Chr10:88516694 GRCh38: Chr10:86756937	BMPR1A		not provided	Benign (Sep 5, 2015)	criteria provided, single submitter
Select item 38101941.	NM_004329.3(BMPR1A):c.-268+20G>A GRCh37: Chr10:88516696 GRCh38: Chr10:86756939	BMPR1A		not specified	Likely benign (Mar 22, 2017)	criteria provided, single submitter
Select item 67977242.	NM_004329.3(BMPR1A):c.-268+225C>T GRCh37: Chr10:88516901 GRCh38: Chr10:86757144	BMPR1A		not provided	Likely benign (Jun 18, 2018)	criteria provided, single submitter
Select item 123208643.	NM_004329.3(BMPR1A):c.-268+404G>A GRCh37: Chr10:88517080 GRCh38: Chr10:86757323	BMPR1A		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 134162044.	NM_004329.3(BMPR1A):c.-268+1138T>A GRCh37: Chr10:88517814 GRCh38: Chr10:86758057	BMPR1A		not provided	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 170279345.	NM_004329.3(BMPR1A):c.-268+1463_-268+1465dup GRCh37: Chr10:88518124-88518125 GRCh38: Chr10:86758367-86758368	BMPR1A		not provided	Likely benign (Jun 4, 2021)	criteria provided, single submitter
Select item 123531446.	NM_004329.3(BMPR1A):c.-268+1465dup GRCh37: Chr10:88518124-88518125 GRCh38: Chr10:86758367-86758368	BMPR1A		not provided	Benign (Jun 2, 2021)	criteria provided, single submitter
Select item 122690947.	NM_004329.3(BMPR1A):c.-268+1464_-268+1465del GRCh37: Chr10:88518125-88518126 GRCh38: Chr10:86758368-86758369	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 129459948.	NM_004329.3(BMPR1A):c.-268+1779T>G GRCh37: Chr10:88518455 GRCh38: Chr10:86758698	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 152635149.	NM_004329.3(BMPR1A):c.-268+1817T>C GRCh37: Chr10:88518493 GRCh38: Chr10:86758736	BMPR1A		not provided	Likely benign (May 19, 2021)	criteria provided, single submitter
Select item 126716850.	NM_004329.3(BMPR1A):c.-268+1917C>T GRCh37: Chr10:88518593 GRCh38: Chr10:86758836	BMPR1A		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 123678851.	NM_004329.3(BMPR1A):c.-268+2280G>A GRCh37: Chr10:88518956 GRCh38: Chr10:86759199	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 127892452.	NM_004329.3(BMPR1A):c.-268+2320C>T GRCh37: Chr10:88518996 GRCh38: Chr10:86759239	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 123833653.	NM_004329.3(BMPR1A):c.-268+2898G>C GRCh37: Chr10:88519574 GRCh38: Chr10:86759817	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 123952654.	NM_004329.3(BMPR1A):c.-268+3038C>T GRCh37: Chr10:88519714 GRCh38: Chr10:86759957	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 123232155.	NM_004329.3(BMPR1A):c.-268+3153T>C GRCh37: Chr10:88519829 GRCh38: Chr10:86760072	BMPR1A		not provided	Benign (May 15, 2021)	criteria provided, single submitter
Select item 122076456.	NM_004329.3(BMPR1A):c.-268+3733A>G GRCh37: Chr10:88520409 GRCh38: Chr10:86760652	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 122144657.	NM_004329.3(BMPR1A):c.-268+4087A>G GRCh37: Chr10:88520763 GRCh38: Chr10:86761006	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 132614958.	NM_004329.3(BMPR1A):c.-268+4609T>G GRCh37: Chr10:88521285 GRCh38: Chr10:86761528	BMPR1A		not provided	Likely benign (May 21, 2021)	criteria provided, single submitter
Select item 126218859.	NM_004329.3(BMPR1A):c.-268+5295T>A GRCh37: Chr10:88521971 GRCh38: Chr10:86762214	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 171221160.	NM_004329.3(BMPR1A):c.-268+5418G>C GRCh37: Chr10:88522094 GRCh38: Chr10:86762337	BMPR1A		not provided	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 134162161.	NM_004329.3(BMPR1A):c.-268+5565G>A GRCh37: Chr10:88522241 GRCh38: Chr10:86762484	BMPR1A		not provided	Likely benign (May 20, 2021)	criteria provided, single submitter
Select item 123605662.	NM_004329.3(BMPR1A):c.-268+5637T>C GRCh37: Chr10:88522313 GRCh38: Chr10:86762556	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 124371163.	NM_004329.3(BMPR1A):c.-268+5677T>C GRCh37: Chr10:88522353 GRCh38: Chr10:86762596	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 123536164.	NM_004329.3(BMPR1A):c.-268+5732G>A GRCh37: Chr10:88522408 GRCh38: Chr10:86762651	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 122910965.	NM_004329.3(BMPR1A):c.-268+5919C>T GRCh37: Chr10:88522595 GRCh38: Chr10:86762838	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 167688166.	NM_004329.3(BMPR1A):c.-268+5965G>A GRCh37: Chr10:88522641 GRCh38: Chr10:86762884	BMPR1A		not provided	Likely benign (May 11, 2021)	criteria provided, single submitter
Select item 124174067.	NM_004329.3(BMPR1A):c.-268+6016C>T GRCh37: Chr10:88522692 GRCh38: Chr10:86762935	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 124870368.	NM_004329.3(BMPR1A):c.-268+6040T>C GRCh37: Chr10:88522716 GRCh38: Chr10:86762959	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 126129269.	NM_004329.3(BMPR1A):c.-268+6217C>T GRCh37: Chr10:88522893 GRCh38: Chr10:86763136	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 127560270.	NM_004329.3(BMPR1A):c.-268+6266C>T GRCh37: Chr10:88522942 GRCh38: Chr10:86763185	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 117562571.	NM_004329.3(BMPR1A):c.-268+6285G>A GRCh37: Chr10:88522961 GRCh38: Chr10:86763204	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 123430372.	NM_004329.3(BMPR1A):c.-268+6461C>T GRCh37: Chr10:88523137 GRCh38: Chr10:86763380	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 127046173.	NM_004329.3(BMPR1A):c.-268+6462G>A GRCh37: Chr10:88523138 GRCh38: Chr10:86763381	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 118210074.	NM_004329.3(BMPR1A):c.-268+6699_-268+6706del GRCh37: Chr10:88523372-88523379 GRCh38: Chr10:86763615-86763622	BMPR1A		not provided	Benign (May 16, 2021)	criteria provided, single submitter
Select item 133437475.	NM_004329.3(BMPR1A):c.-268+6822T>C GRCh37: Chr10:88523498 GRCh38: Chr10:86763741	BMPR1A		not provided	Likely benign (May 10, 2021)	criteria provided, single submitter
Select item 122672976.	NM_004329.3(BMPR1A):c.-268+6890dup GRCh37: Chr10:88523547-88523548 GRCh38: Chr10:86763790-86763791	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 118003477.	NM_004329.3(BMPR1A):c.-268+6889_-268+6890dup GRCh37: Chr10:88523547-88523548 GRCh38: Chr10:86763790-86763791	BMPR1A		not provided	Benign (May 28, 2021)	criteria provided, single submitter
Select item 122502478.	NM_004329.3(BMPR1A):c.-268+6957T>C GRCh37: Chr10:88523633 GRCh38: Chr10:86763876	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 125077479.	NM_004329.3(BMPR1A):c.-268+6963C>G GRCh37: Chr10:88523639 GRCh38: Chr10:86763882	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 129050180.	NM_004329.3(BMPR1A):c.-268+7028C>T GRCh37: Chr10:88523704 GRCh38: Chr10:86763947	BMPR1A		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 125694481.	NM_004329.3(BMPR1A):c.-268+7063A>G GRCh37: Chr10:88523739 GRCh38: Chr10:86763982	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 127564282.	NM_004329.3(BMPR1A):c.-268+7124A>G GRCh37: Chr10:88523800 GRCh38: Chr10:86764043	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 123577483.	NM_004329.3(BMPR1A):c.-268+7134A>G GRCh37: Chr10:88523810 GRCh38: Chr10:86764053	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 167873684.	NM_004329.3(BMPR1A):c.-268+7326_-268+7327dup GRCh37: Chr10:88524001-88524002 GRCh38: Chr10:86764244-86764245	BMPR1A		not provided	Benign (Apr 24, 2022)	criteria provided, single submitter
Select item 130051985.	NM_004329.3(BMPR1A):c.-268+7417A>G GRCh37: Chr10:88524093 GRCh38: Chr10:86764336	BMPR1A		not provided	Benign (Sep 16, 2021)	criteria provided, single submitter
Select item 124160286.	NM_004329.3(BMPR1A):c.-268+7497G>A GRCh37: Chr10:88524173 GRCh38: Chr10:86764416	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 122611687.	NM_004329.3(BMPR1A):c.-268+7533T>G GRCh37: Chr10:88524209 GRCh38: Chr10:86764452	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 170080588.	NM_004329.3(BMPR1A):c.-268+7545_-268+7547del GRCh37: Chr10:88524220-88524222 GRCh38: Chr10:86764463-86764465	BMPR1A		not provided	Likely benign (May 22, 2021)	criteria provided, single submitter
Select item 126943789.	NM_004329.3(BMPR1A):c.-268+7772G>C GRCh37: Chr10:88524448 GRCh38: Chr10:86764691	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 132880190.	NM_004329.3(BMPR1A):c.-268+8154G>A GRCh37: Chr10:88524830 GRCh38: Chr10:86765073	BMPR1A		not provided	Likely benign (May 22, 2021)	criteria provided, single submitter
Select item 127101591.	NM_004329.3(BMPR1A):c.-268+8293G>A GRCh37: Chr10:88524969 GRCh38: Chr10:86765212	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 124880792.	NM_004329.3(BMPR1A):c.-268+8469A>G GRCh37: Chr10:88525145 GRCh38: Chr10:86765388	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 122970393.	NM_004329.3(BMPR1A):c.-268+8543C>T GRCh37: Chr10:88525219 GRCh38: Chr10:86765462	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 167871394.	NM_004329.3(BMPR1A):c.-268+8563_-268+8564insA GRCh37: Chr10:88525239-88525240 GRCh38: Chr10:86765482-86765483	BMPR1A		not provided	Benign (Apr 24, 2022)	criteria provided, single submitter
Select item 134203395.	NM_004329.3(BMPR1A):c.-268+8586dup GRCh37: Chr10:88525240-88525241 GRCh38: Chr10:86765483-86765484	BMPR1A		not provided	Benign (Feb 19, 2022)	criteria provided, single submitter
Select item 132166596.	NM_004329.3(BMPR1A):c.-268+8564C>A GRCh37: Chr10:88525240 GRCh38: Chr10:86765483	BMPR1A		not provided	Likely benign (May 10, 2021)	criteria provided, single submitter
Select item 123290297.	NM_004329.3(BMPR1A):c.-268+8586del GRCh37: Chr10:88525241 GRCh38: Chr10:86765484	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter
Select item 124146398.	NM_004329.3(BMPR1A):c.-268+8629A>G GRCh37: Chr10:88525305 GRCh38: Chr10:86765548	BMPR1A		not provided	Benign (May 25, 2021)	criteria provided, single submitter
Select item 122109899.	NM_004329.3(BMPR1A):c.-268+8812A>G GRCh37: Chr10:88525488 GRCh38: Chr10:86765731	BMPR1A		not provided	Benign (May 11, 2021)	criteria provided, single submitter
Select item 1274139100.	NM_004329.3(BMPR1A):c.-268+9192T>C GRCh37: Chr10:88525868 GRCh38: Chr10:86766111	BMPR1A		not provided	Benign (May 10, 2021)	criteria provided, single submitter

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