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Items: 1 to 100 of 1213

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr10:52489127-88906961
GRCh38:
Chr10:50729367-87147204
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, LOC101928961, LOC101928994, LOC101929165, LOC101929234, LOC101929662, LOC102723439, LOC102724719, LOC105378305, LOC105378311, LOC105378328, 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, 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, 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
See casesPathogenic
(Dec 16, 2011)		no assertion criteria provided
2.
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 casesPathogenic
(Mar 24, 2014)		no assertion criteria provided
3.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
4.
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 casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
5.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
6.
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 casesPathogenic
(Dec 10, 2012)		no assertion criteria provided
7.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
8.
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 casesPathogenic
(Dec 22, 2010)		no assertion criteria provided
9.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
10.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
11.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
12.
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 casesPathogenic
(Nov 30, 2010)		no assertion criteria provided
13.
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 casesPathogenic
(Aug 12, 2011)		criteria provided, single submitter
14.
GRCh37:
Chr10:88428036
GRCh38:
Chr10:86668279
LDB3not providedLikely benign
(Jun 14, 2018)		criteria provided, single submitter
15.
GRCh37:
Chr10:88428047
GRCh38:
Chr10:86668290
LDB3not providedBenign
(Jun 19, 2018)		criteria provided, single submitter
16.
GRCh37:
Chr10:88428076
GRCh38:
Chr10:86668319
LDB3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
17.
GRCh37:
Chr10:88428158
GRCh38:
Chr10:86668401
LDB3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
18.
GRCh37:
Chr10:88428167
GRCh38:
Chr10:86668410
LDB3not providedBenign
(Jun 14, 2018)		criteria provided, single submitter
19.
GRCh37:
Chr10:88428302
GRCh38:
Chr10:86668545
LDB3not specifiedBenign
(Apr 13, 2015)		criteria provided, single submitter
20.
GRCh37:
Chr10:88428303
GRCh38:
Chr10:86668546
LDB3not specifiedLikely benign
(Apr 6, 2017)		criteria provided, single submitter
21.
GRCh37:
Chr10:88428303
GRCh38:
Chr10:86668546
LDB3not specifiedBenign
(Aug 8, 2011)		criteria provided, single submitter
22.
GRCh37:
Chr10:88428315
GRCh38:
Chr10:86668558
LDB3not specifiedBenign
(Aug 2, 2012)		criteria provided, single submitter
23.
GRCh37:
Chr10:88428321-88459810
GRCh38:
Chr10:86668564-86700053
LDB3, LOC110121486Myofibrillar myopathy 4Uncertain significance
(Nov 29, 2016)		criteria provided, single submitter
24.
GRCh37:
Chr10:88428332
GRCh38:
Chr10:86668575
LDB3not providedUncertain significance
(Aug 20, 2019)		criteria provided, single submitter
25.
GRCh37:
Chr10:88428335
GRCh38:
Chr10:86668578
LDB3Myofibrillar Myopathy, Dominant, not specified, Dilated cardiomyopathy 1C,
Myofibrillar myopathy 4, Left ventricular noncompaction cardiomyopathy		Benign/Likely benign
(Aug 19, 2021)		criteria provided, multiple submitters, no conflicts
26.
GRCh37:
Chr10:88428345
GRCh38:
Chr10:86668588
LDB3not specifiedLikely benign
(Jul 8, 2016)		criteria provided, single submitter
27.
GRCh37:
Chr10:88428368
GRCh38:
Chr10:86668611
LDB3Myofibrillar Myopathy, Dominant, Myofibrillar myopathy 4, Dilated cardiomyopathy 1C,
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1C, Myofibrillar myopathy 4
Uncertain significance
(Sep 27, 2021)		criteria provided, multiple submitters, no conflicts
28.
GRCh37:
Chr10:88428394
GRCh38:
Chr10:86668637
LDB3Dilated Cardiomyopathy, Dominant, not provided, Myofibrillar Myopathy, Dominant,
Myofibrillar myopathy 4, Left ventricular noncompaction cardiomyopathy		Conflicting interpretations of pathogenicity
(May 1, 2022)		criteria provided, conflicting interpretations
29.
GRCh37:
Chr10:88428406
GRCh38:
Chr10:86668649
LDB3not providedLikely benign
(Dec 3, 2018)		criteria provided, single submitter
30.
GRCh37:
Chr10:88428429
GRCh38:
Chr10:86668672
LDB3Dilated cardiomyopathy 1C, Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
Uncertain significance
(Aug 11, 2021)		criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr10:88428429-88469827
GRCh38:
Chr10:86668672-86710070
LDB3, LOC110121486Myofibrillar myopathy 4Uncertain significance
(Dec 14, 2017)		criteria provided, single submitter
32.
GRCh37:
Chr10:88428430
GRCh38:
Chr10:86668673
LDB3not specifiedLikely benign
(Apr 22, 2016)		criteria provided, single submitter
33.
GRCh37:
Chr10:88428431
GRCh38:
Chr10:86668674
LDB3not specifiedLikely benign
(Sep 6, 2016)		criteria provided, single submitter
34.
GRCh37:
Chr10:88428433
GRCh38:
Chr10:86668676
LDB3not specifiedBenign
(Feb 20, 2023)		criteria provided, single submitter
35.
GRCh37:
Chr10:88428434
GRCh38:
Chr10:86668677
LDB3not specified, not providedConflicting interpretations of pathogenicity
(May 20, 2015)		criteria provided, conflicting interpretations
36.
GRCh37:
Chr10:88428446
GRCh38:
Chr10:86668689
LDB3Cardiovascular phenotypeUncertain significance
(Oct 18, 2021)		criteria provided, single submitter
37.
GRCh37:
Chr10:88428447
GRCh38:
Chr10:86668690
LDB3not providedUncertain significance
(Feb 6, 2021)		criteria provided, single submitter
38.
GRCh37:
Chr10:88428448
GRCh38:
Chr10:86668691
LDB3CardiomyopathyUncertain significance
(Aug 1, 2017)		criteria provided, single submitter
39.
GRCh37:
Chr10:88428452
GRCh38:
Chr10:86668695
LDB3S2TMyofibrillar myopathy 4Uncertain significance
(Feb 3, 2022)		criteria provided, single submitter
40.
GRCh37:
Chr10:88428453
GRCh38:
Chr10:86668696
LDB3S2YCardiomyopathyUncertain significance
(Jun 29, 2016)		criteria provided, single submitter
41.
GRCh37:
Chr10:88428458
GRCh38:
Chr10:86668701
LDB3S4Rnot specifiedUncertain significance
(Oct 6, 2014)		criteria provided, single submitter
42.
GRCh37:
Chr10:88428459
GRCh38:
Chr10:86668702
LDB3S4NMyofibrillar myopathy 4, not providedConflicting interpretations of pathogenicity
(Dec 20, 2021)		criteria provided, conflicting interpretations
43.
GRCh37:
Chr10:88428460
GRCh38:
Chr10:86668703
LDB3Myofibrillar myopathy 4Likely benign
(Jan 11, 2022)		criteria provided, single submitter
44.
GRCh37:
Chr10:88428461-88428462
GRCh38:
Chr10:86668704-86668705
LDB3Myofibrillar myopathy 4, Cardiovascular phenotypeUncertain significance
(Feb 10, 2023)		criteria provided, multiple submitters, no conflicts
45.
GRCh37:
Chr10:88428461
GRCh38:
Chr10:86668704
LDB3V5MMyofibrillar myopathy 4, Dilated cardiomyopathy 1C, Myofibrillar myopathy 4,
not provided, Cardiovascular phenotype		Uncertain significance
(Mar 18, 2023)		criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr10:88428469
GRCh38:
Chr10:86668712
LDB3Myofibrillar myopathy 4Likely benign
(Aug 13, 2021)		criteria provided, single submitter
47.
GRCh37:
Chr10:88428471
GRCh38:
Chr10:86668714
LDB3T8NMyofibrillar myopathy 4Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
48.
GRCh37:
Chr10:88428474
GRCh38:
Chr10:86668717
LDB3G9VCardiovascular phenotypeUncertain significance
(May 28, 2019)		criteria provided, single submitter
49.
GRCh37:
Chr10:88428478
GRCh38:
Chr10:86668721
LDB3Cardiovascular phenotype, Myofibrillar myopathy 4Likely benign
(Sep 6, 2022)		criteria provided, multiple submitters, no conflicts
50.
GRCh37:
Chr10:88428478
GRCh38:
Chr10:86668721
LDB3Myofibrillar Myopathy, Dominant, Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy 1C,
Myofibrillar myopathy 4		Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
51.
GRCh37:
Chr10:88428479
GRCh38:
Chr10:86668722
LDB3G11RMyofibrillar myopathy 4Uncertain significance
(Oct 27, 2022)		criteria provided, single submitter
52.
GRCh37:
Chr10:88428484
GRCh38:
Chr10:86668727
LDB3CardiomyopathyUncertain significance
(Nov 24, 2015)		criteria provided, single submitter
53.
GRCh37:
Chr10:88428494
GRCh38:
Chr10:86668737
LDB3R16CMyofibrillar myopathy 4Uncertain significance
(Sep 1, 2022)		criteria provided, single submitter
54.
GRCh37:
Chr10:88428495
GRCh38:
Chr10:86668738
LDB3R16HMyofibrillar myopathy 4, Cardiovascular phenotypeUncertain significance
(Sep 2, 2022)		criteria provided, multiple submitters, no conflicts
55.
GRCh37:
Chr10:88428498
GRCh38:
Chr10:86668741
LDB3L17PMyofibrillar myopathy 4Uncertain significance
(Aug 31, 2021)		criteria provided, single submitter
56.
GRCh37:
Chr10:88428499
GRCh38:
Chr10:86668742
LDB3Myofibrillar myopathy 4Likely benign
(Dec 21, 2021)		criteria provided, single submitter
57.
GRCh37:
Chr10:88428502
GRCh38:
Chr10:86668745
LDB3Cardiovascular phenotypeLikely benign
(Mar 18, 2021)		criteria provided, single submitter
58.
GRCh37:
Chr10:88428502
GRCh38:
Chr10:86668745
LDB3G20fsnot providedUncertain significanceno assertion criteria provided
59.
GRCh37:
Chr10:88428502
GRCh38:
Chr10:86668745
LDB3Q18HDilated cardiomyopathy 1C, Myofibrillar myopathy 4, Primary familial dilated cardiomyopathy,
not provided, Cardiomyopathy, Myofibrillar myopathy 4
Uncertain significance
(Oct 26, 2022)		criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr10:88428503
GRCh38:
Chr10:86668746
LDB3G19RCardiovascular phenotype, Myofibrillar myopathy 4, Dilated cardiomyopathy 1C,
Myofibrillar myopathy 4		Uncertain significance
(Jun 3, 2022)		criteria provided, multiple submitters, no conflicts
61.
GRCh37:
Chr10:88428503
GRCh38:
Chr10:86668746
LDB3G19Rnot provided, Myofibrillar myopathy 4Uncertain significance
(Sep 1, 2021)		criteria provided, multiple submitters, no conflicts
62.
GRCh37:
Chr10:88428503
GRCh38:
Chr10:86668746
LDB3G19WMyofibrillar myopathy 4Uncertain significance
(Sep 1, 2021)		criteria provided, single submitter
63.
GRCh37:
Chr10:88428504
GRCh38:
Chr10:86668747
LDB3G19Anot provided, Myofibrillar myopathy 4Uncertain significance
(Nov 28, 2021)		criteria provided, multiple submitters, no conflicts
64.
GRCh37:
Chr10:88428504
GRCh38:
Chr10:86668747
LDB3G19EMyofibrillar myopathy 4Uncertain significance
(Nov 1, 2022)		criteria provided, single submitter
65.
GRCh37:
Chr10:88428507
GRCh38:
Chr10:86668750
LDB3G20DMyofibrillar myopathy 4Uncertain significance
(Oct 20, 2021)		criteria provided, single submitter
66.
GRCh37:
Chr10:88428514
GRCh38:
Chr10:86668757
LDB3D22EPrimary familial hypertrophic cardiomyopathyUncertain significance
(Jul 3, 2019)		criteria provided, single submitter
67.
GRCh37:
Chr10:88428520
GRCh38:
Chr10:86668763
LDB3N24Knot provided, Myofibrillar myopathy 4, Cardiovascular phenotype
Uncertain significance
(Mar 4, 2022)		criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr10:88428522
GRCh38:
Chr10:86668765
LDB3M25TMyofibrillar myopathy 4Uncertain significance
(Jun 7, 2022)		criteria provided, single submitter
69.
GRCh37:
Chr10:88428524
GRCh38:
Chr10:86668767
LDB3P26SMyofibrillar myopathy 4, not providedUncertain significance
(Jan 25, 2023)		criteria provided, multiple submitters, no conflicts
70.
GRCh37:
Chr10:88428527
GRCh38:
Chr10:86668770
LDB3L27Fnot providedUncertain significance
(Sep 19, 2017)		criteria provided, single submitter
71.
GRCh37:
Chr10:88428528
GRCh38:
Chr10:86668771
LDB3L27Pnot specified, Myofibrillar myopathy 4Uncertain significance
(Aug 27, 2021)		criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr10:88428529
GRCh38:
Chr10:86668772
LDB3Cardiovascular phenotypeLikely benign
(Jun 20, 2018)		criteria provided, single submitter
73.
GRCh37:
Chr10:88428529
GRCh38:
Chr10:86668772
LDB3not specifiedLikely benign
(Aug 28, 2019)		criteria provided, multiple submitters, no conflicts
74.
GRCh37:
Chr10:88428537
GRCh38:
Chr10:86668780
LDB3S30CMyofibrillar myopathy 4Uncertain significance
(Jun 9, 2022)		criteria provided, single submitter
75.
GRCh37:
Chr10:88428537
GRCh38:
Chr10:86668780
LDB3S30YMyofibrillar myopathy 4Uncertain significance
(Aug 27, 2021)		criteria provided, single submitter
76.
GRCh37:
Chr10:88428539
GRCh38:
Chr10:86668782
LDB3R31GMyofibrillar myopathy 4Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
77.
GRCh37:
Chr10:88428539
GRCh38:
Chr10:86668782
LDB3R31Wnot specified, not provided, Primary dilated cardiomyopathy,
Myofibrillar myopathy 4, Hypertrophic cardiomyopathy		Uncertain significance
(Jul 19, 2022)		criteria provided, multiple submitters, no conflicts
78.
GRCh37:
Chr10:88428540
GRCh38:
Chr10:86668783
LDB3R31QMyofibrillar myopathy 4Uncertain significance
(Sep 28, 2018)		criteria provided, single submitter
79.
GRCh37:
Chr10:88428541
GRCh38:
Chr10:86668784
LDB3Myofibrillar myopathy 4Uncertain significance
(Feb 21, 2022)		criteria provided, single submitter
80.
GRCh37:
Chr10:88428542
GRCh38:
Chr10:86668785
LDB3not specifiedUncertain significance
(May 1, 2014)		criteria provided, single submitter
81.
GRCh37:
Chr10:88428548
GRCh38:
Chr10:86668791
LDB3not specifiedLikely benign
(Nov 7, 2008)		criteria provided, single submitter
82.
GRCh37:
Chr10:88428551
GRCh38:
Chr10:86668794
LDB3not specifiedLikely benign
(Nov 17, 2017)		criteria provided, single submitter
83.
GRCh37:
Chr10:88428553
GRCh38:
Chr10:86668796
LDB3not provided, Myofibrillar myopathy 4Likely benign
(Apr 15, 2022)		criteria provided, multiple submitters, no conflicts
84.
GRCh37:
Chr10:88428558
GRCh38:
Chr10:86668801
LDB3Myofibrillar myopathy 4Likely benign
(Jun 27, 2022)		criteria provided, single submitter
85.
GRCh37:
Chr10:88428559
GRCh38:
Chr10:86668802
LDB3Myofibrillar myopathy 4Likely benign
(Mar 16, 2022)		criteria provided, single submitter
86.
GRCh37:
Chr10:88428706
GRCh38:
Chr10:86668949
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
87.
GRCh37:
Chr10:88428718
GRCh38:
Chr10:86668961
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
88.
GRCh37:
Chr10:88428793-88428794
GRCh38:
Chr10:86669036-86669037
LDB3not providedBenign
(Nov 14, 2019)		criteria provided, single submitter
89.
GRCh37:
Chr10:88428810-88428811
GRCh38:
Chr10:86669053-86669054
LDB3not providedLikely benign
(Jun 26, 2018)		criteria provided, single submitter
90.
GRCh37:
Chr10:88438830
GRCh38:
Chr10:86679073
LDB3not providedBenign
(Jun 16, 2018)		criteria provided, single submitter
91.
GRCh37:
Chr10:88439000
GRCh38:
Chr10:86679243
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
92.
GRCh37:
Chr10:88439005
GRCh38:
Chr10:86679248
LDB3not providedLikely benign
(Jun 19, 2018)		criteria provided, single submitter
93.
GRCh37:
Chr10:88439005
GRCh38:
Chr10:86679248
LDB3not providedBenign
(Jun 18, 2018)		criteria provided, single submitter
94.
GRCh37:
Chr10:88439104
GRCh38:
Chr10:86679347
LDB3Myofibrillar myopathy 4Likely benign
(Oct 29, 2022)		criteria provided, single submitter
95.
GRCh37:
Chr10:88439107
GRCh38:
Chr10:86679350
LDB3Myofibrillar myopathy 4Likely benign
(Jun 11, 2022)		criteria provided, single submitter
96.
GRCh37:
Chr10:88439110
GRCh38:
Chr10:86679353
LDB3Myofibrillar myopathy 4Likely benign
(Jul 13, 2022)		criteria provided, single submitter
97.
GRCh37:
Chr10:88439115
GRCh38:
Chr10:86679358
LDB3Myofibrillar myopathy 4Uncertain significance
(Aug 28, 2021)		criteria provided, single submitter
98.
GRCh37:
Chr10:88439128-88439129
GRCh38:
Chr10:86679371-86679372
LDB3P34fsMyofibrillar myopathy 4Uncertain significance
(Sep 20, 2017)		criteria provided, single submitter
99.
GRCh37:
Chr10:88439135
GRCh38:
Chr10:86679378
LDB3Cardiovascular phenotypeLikely benign
(Jul 5, 2022)		criteria provided, single submitter
100.
GRCh37:
Chr10:88439138
GRCh38:
Chr10:86679381
LDB3S36RMyofibrillar myopathy 4Uncertain significance
(Nov 27, 2021)		criteria provided, single submitter
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