56203[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1508261.	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1 GRCh37: Chr3:57174452-90309110 GRCh38: Chr3:57140424-90259960	ROBO1, ROBO2, RPP14, RYBP, SAMMSON, SCAANT1, SHQ1, SLC25A26, SLMAP, SNORA95, SNTN, SUCLG2, SUCLG2-DT, SYNPR, SYNPR-AS1, TAFA1, TAFA4, THOC7, THOC7-AS1, TMF1, UBA3, VGLL3, ZNF654, ZNF717, ABHD6, ACOX2, ADAMTS9, ADAMTS9-AS1, ADAMTS9-AS2, APPL1, ARF4, ARF4-AS1, ARL6IP5, ASB14, ATXN7, C3orf38, C3orf49, CADM2, CADM2-AS1, CADM2-AS2, CADPS, CEP15, CFAP20DC, CFAP20DC-AS1, CGGBP1, CHMP2B, CNTN3, CSNKA2IP, DENND6A, DENND6A-DT, DNAH12, DNASE1L3, EBLN2, EIF4E3, EOGT, EOGT-DT, EPHA3, FAM107A, FAM3D, FAM3D-AS1, FEZF2, FHIT, FLNB, FLNB-AS1, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GBE1, GPR27, GXYLT2, HESX1, HTD2, HTR1F, IL17RD, KBTBD8, KCTD6, LINC00506, LINC00698, LINC00870, LINC00877, LINC00960, LINC00971, LINC00994, LINC02005, LINC02008, LINC02018, LINC02025, LINC02027, LINC02040, LINC02047, LINC02050, LINC02070, LINC02077, LMOD3, LOC100130345, LOC101927296, LOC101927374, LOC102723364, LOC105377102, LOC105377143, LOC105377146, LOC105377162, LOC105377178, LOC107325936, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC108281136, LOC108281142, LOC108660406, LOC110120604, LOC110120681, LOC110120682, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC110121053, LOC110121087, LOC110121119, LOC110121240, LOC111562376, LOC111589208, LOC112935952, LOC112935953, LOC112935954, LOC112935955, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC112935962, LOC114004381, LOC115995512, LOC115995513, LOC115995514, LOC121009674, LOC121009675, LOC121009676, LOC121009677, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725147, LOC121725148, LOC121725149, LOC122965318, LOC122965319, LOC122965320, LOC122965321, LOC122965322, LOC122965323, LOC122965324, LOC122965325, LOC122965326, LOC122965327, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC123002307, LOC123002308, LOC123002309, LOC123002310, LOC123002311, LOC123002312, LOC126806690, LOC126806691, LOC126806692, LOC126806693, LOC126806694, LOC126806695, LOC126806696, LOC126806697, LOC126806698, LOC126806699, LOC126806700, LOC126806701, LOC126806702, LOC126806703, LOC126806704, LOC126806705, LOC126806706, LOC126806707, LOC126806708, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, LOC126806725, LOC126806726, LOC126806727, LOC126806728, LOC126806729, LOC126806730, LOC126806731, LOC126806732, LOC126806733, LOC126806734, LOC126806735, LOC126806736, LOC126806737, LOC126806738, LOC126806739, LOC126806740, LOC126806741, LOC126806742, LOC128031834, LOC129389079, LOC129389080, LOC129389081, LOC129389082, LOC129389083, LOC129389084, LOC129389085, LOC129389086, LOC129389087, LOC129389088, LOC129389089, LOC129389090, LOC129389091, LOC129389092, LOC129389093, LOC129389094, LOC129389095, LOC129389096, LOC129389097, LOC129389098, LOC129389099, LOC129389100, LOC129389101, LOC129389102, LOC129389103, LOC129389104, LOC129936924, LOC129936925, LOC129936926, LOC129936927, LOC129936928, LOC129936929, LOC129936930, LOC129936931, LOC129936932, LOC129936933, LOC129936934, LOC129936935, LOC129936936, LOC129936937, LOC129936938, LOC129936939, LOC129936940, LOC129936941, LOC129936942, LOC129936943, LOC129936944, LOC129936945, LOC129936946, LOC129936947, LOC129936948, LOC129936949, LOC129936950, LOC129936951, LOC129936952, LOC129936953, LOC129936954, LOC129936955, LOC129936956, LOC129936957, LOC129936958, LOC129936959, LOC129936960, LOC129936961, LOC129936962, LOC129936963, LOC129936964, LOC129936965, LOC129936966, LOC129936967, LOC129936968, LOC129936969, LOC129936970, LOC129936971, LOC129936972, LOC129936973, LOC129936974, LOC129936975, LOC129936976, LOC129936977, LOC129936978, LOC129936979, LOC129936980, LOC129936981, LOC129936982, LOC129936983, LOC129936984, LOC129936985, LOC129936986, LOC129936987, LOC129936988, LOC129936989, LOC129936990, LOC129936991, LOC129936992, LOC129936993, LOC129936994, LOC129936995, LOC129936996, LOC129936997, LOC129936998, LOC129936999, LOC129937000, LOC129937001, LOC129937002, LOC129937003, LOC129937004, LOC129937005, LOC129937006, LOC129937007, LOC129937008, LOC129937009, LOC129937010, LOC129937011, LOC129937012, LOC129937013, LOC129937014, LOC129937015, LOC129937016, LOC129937017, LOC129937018, LOC129937019, LOC129937020, LOC129937021, LOC129937022, LOC129937023, LOC129937024, LOC129937025, LOC129937026, LOC129937027, LOC129937028, LOC129937029, LOC129937030, LOC129937031, LOC129937032, LOC129937033, LOC129937034, LOC129937035, LOC129937036, LOC129937037, LOC129937038, LOC129937039, LOC129937040, LOC129937041, LOC129937042, LOC129937043, LOC129937044, LOC129937045, LOC129937046, LOC129937047, LOC129937048, LOC129937049, LOC129937050, LOC129937051, LOC129937052, LOC129937053, LOC129937054, LOC129937055, LOC129937056, LOC129937057, LOC129937058, LOC129937059, LOC129937060, LOC129937061, LOC129937062, LOC129937063, LOC129937064, LOC129937065, LOC129937066, LOC129937067, LOC129937068, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, LOC129937074, LOC129937075, LOC129937076, LOC129937077, LOC129937078, LOC129937079, LOC129937080, LOC129937081, LOC129937082, LOC129937083, LOC129937084, LOC129937085, LOC129937086, LOC129937087, LOC129937088, LOC129937089, LOC129937090, LOC129937091, LOC129937092, LOC129937093, LOC129937094, LOC129937095, LOC129937096, LOC129937097, LOC132088975, LOC132088976, LOC132088978, LOC132088981, LOC132088982, LOC132088983, LOC132088984, LOC132088985, LOC132088986, LOC132088987, LOC132090697, LOC339902, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR3923, MIR4272, MIR4273, MIR4444-2, MIR4795, MIR548BB, MIR5688, MITF, PDE12, PDHB, PDZRN3, PDZRN3-AS1, POU1F1, PPP4R2, PRICKLE2, PRICKLE2-AS1, PRICKLE2-AS2, PRICKLE2-AS3, PRICKLE2-DT, PROK2, PSMD6, PSMD6-AS2, PTPRG, PTPRG-AS1, PXK		See cases	Pathogenic (Jul 25, 2012)	no assertion criteria provided
Select item 577722.	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1 GRCh37: Chr3:64746924-78459248 GRCh38: Chr3:64761248-78410098	ADAMTS9-AS2, ARL6IP5, CNTN3, EBLN2, EIF4E3, EOGT, EOGT-DT, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GPR27, GXYLT2, KBTBD8, LINC00870, LINC00877, LINC00960, LINC02005, LINC02018, LINC02040, LINC02047, LINC02077, LMOD3, LOC101927296, LOC105377143, LOC105377146, LOC105377162, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC110120604, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC111562376, LOC111589208, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC115995512, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725149, LOC123000067, LOC123000068, LOC123000069, LOC123000070, LOC123000071, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC126806705, LOC126806706, LOC126806707, LOC126806708, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, LOC126806725, LOC126806726, LOC126806727, LOC126806728, LOC126806729, LOC129389085, LOC129389086, LOC129389087, LOC129389088, LOC129389089, LOC129389090, LOC129389091, LOC129389092, LOC129389093, LOC129389094, LOC129389095, LOC129389096, LOC129389097, LOC129389098, LOC129936984, LOC129936985, LOC129936986, LOC129936987, LOC129936988, LOC129936989, LOC129936990, LOC129936991, LOC129936992, LOC129936993, LOC129936994, LOC129936995, LOC129936996, LOC129936997, LOC129936998, LOC129936999, LOC129937000, LOC129937001, LOC129937002, LOC129937003, LOC129937004, LOC129937005, LOC129937006, LOC129937007, LOC129937008, LOC129937009, LOC129937010, LOC129937011, LOC129937012, LOC129937013, LOC129937014, LOC129937015, LOC129937016, LOC129937017, LOC129937018, LOC129937019, LOC129937020, LOC129937021, LOC129937022, LOC129937023, LOC129937024, LOC129937025, LOC129937026, LOC129937027, LOC129937028, LOC129937029, LOC129937030, LOC129937031, LOC129937032, LOC129937033, LOC129937034, LOC129937035, LOC129937036, LOC129937037, LOC129937038, LOC129937039, LOC129937040, LOC129937041, LOC129937042, LOC129937043, LOC129937044, LOC129937045, LOC129937046, LOC129937047, LOC129937048, LOC129937049, LOC129937050, LOC129937051, LOC129937052, LOC129937053, LOC129937054, LOC129937055, LOC129937056, LOC129937057, LOC129937058, LOC129937059, LOC129937060, LOC129937061, LOC129937062, LOC129937063, LOC129937064, LOC129937065, LOC129937066, LOC129937067, LOC129937068, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, LOC129937074, LOC129937075, LOC132088976, LOC132088978, LOC132088981, LOC132088982, LOC132088983, LOC132088984, LOC132088985, LOC132088986, LOC132088987, LOC132090697, LRIG1, MAGI1, MAGI1-AS1, MAGI1-IT1, MDFIC2, MIR1284, MIR1324, MIR3136, MIR4272, MIR4273, MIR4444-2, MITF, PDZRN3, PDZRN3-AS1, PPP4R2, PROK2, ROBO2, RYBP, SAMMSON, SHQ1, SLC25A26, SUCLG2, SUCLG2-DT, TAFA1, TAFA4, TMF1, UBA3, ZNF717		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1443393.	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1 GRCh37: Chr3:67441430-73463152 GRCh38: Chr3:67391006-73414001	ARL6IP5, EBLN2, EIF4E3, EOGT, EOGT-DT, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRMD4B, GPR27, GXYLT2, LINC00870, LINC00877, LMOD3, LOC105377146, LOC105377162, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC108167314, LOC110120604, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC111589208, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC115995512, LOC121009678, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725149, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC129389087, LOC129389088, LOC129389089, LOC129389090, LOC129937000, LOC129937001, LOC129937002, LOC129937003, LOC129937004, LOC129937005, LOC129937006, LOC129937007, LOC129937008, LOC129937009, LOC129937010, LOC129937011, LOC129937012, LOC129937013, LOC129937014, LOC129937015, LOC129937016, LOC129937017, LOC129937018, LOC129937019, LOC129937020, LOC129937021, LOC129937022, LOC129937023, LOC129937024, LOC129937025, LOC129937026, LOC129937027, LOC129937028, LOC129937029, LOC129937030, LOC129937031, LOC129937032, LOC129937033, LOC129937034, LOC129937035, LOC129937036, LOC129937037, LOC129937038, LOC129937039, LOC129937040, LOC129937041, LOC129937042, LOC129937043, LOC129937044, LOC129937045, LOC129937046, LOC129937047, LOC129937048, LOC129937049, LOC129937050, LOC129937051, LOC129937052, LOC129937053, LOC129937054, LOC129937055, LOC129937056, LOC129937057, LOC129937058, LOC129937059, LOC129937060, LOC129937061, LOC129937062, LOC129937063, LOC129937064, LOC129937065, MDFIC2, MIR1284, MIR3136, MITF, PDZRN3, PPP4R2, PROK2, RYBP, SAMMSON, SHQ1, SUCLG2, SUCLG2-DT, TAFA1, TAFA4, TMF1, UBA3		See cases	Pathogenic (Dec 30, 2009)	no assertion criteria provided
Select item 1515044.	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3 GRCh37: Chr3:68378130-76813470 GRCh38: Chr3:68328980-76764319	ARL6IP5, CNTN3, EBLN2, EIF4E3, EOGT, EOGT-DT, FOXP1, FOXP1-AS1, FOXP1-DT, FOXP1-IT1, FRG2C, FRMD4B, GPR27, GXYLT2, LINC00870, LINC00877, LINC00960, LINC02005, LINC02018, LINC02047, LMOD3, LOC101927296, LOC105377146, LOC105377162, LOC107988030, LOC107988038, LOC107988042, LOC107988044, LOC110120604, LOC110120720, LOC110120791, LOC110120812, LOC110120986, LOC110120994, LOC110121007, LOC111589208, LOC112935956, LOC112935957, LOC112935958, LOC112935959, LOC112935961, LOC115995512, LOC121009679, LOC121009680, LOC121009681, LOC121009682, LOC121725149, LOC123000072, LOC123002301, LOC123002302, LOC123002303, LOC123002304, LOC123002305, LOC123002306, LOC126806709, LOC126806710, LOC126806711, LOC126806712, LOC126806713, LOC126806714, LOC126806715, LOC126806716, LOC126806717, LOC126806718, LOC126806719, LOC126806720, LOC126806721, LOC126806722, LOC126806723, LOC126806724, LOC129389088, LOC129389089, LOC129389090, LOC129389091, LOC129389092, LOC129389093, LOC129937003, LOC129937004, LOC129937005, LOC129937006, LOC129937007, LOC129937008, LOC129937009, LOC129937010, LOC129937011, LOC129937012, LOC129937013, LOC129937014, LOC129937015, LOC129937016, LOC129937017, LOC129937018, LOC129937019, LOC129937020, LOC129937021, LOC129937022, LOC129937023, LOC129937024, LOC129937025, LOC129937026, LOC129937027, LOC129937028, LOC129937029, LOC129937030, LOC129937031, LOC129937032, LOC129937033, LOC129937034, LOC129937035, LOC129937036, LOC129937037, LOC129937038, LOC129937039, LOC129937040, LOC129937041, LOC129937042, LOC129937043, LOC129937044, LOC129937045, LOC129937046, LOC129937047, LOC129937048, LOC129937049, LOC129937050, LOC129937051, LOC129937052, LOC129937053, LOC129937054, LOC129937055, LOC129937056, LOC129937057, LOC129937058, LOC129937059, LOC129937060, LOC129937061, LOC129937062, LOC129937063, LOC129937064, LOC129937065, LOC129937066, LOC129937067, LOC129937068, LOC129937069, LOC129937070, LOC129937071, LOC129937072, LOC129937073, LOC129937074, LOC129937075, LOC132088981, LOC132088982, LOC132088983, LOC132088984, LOC132088985, LOC132088986, LOC132088987, LOC132090697, MDFIC2, MIR1284, MIR1324, MIR3136, MIR4273, MIR4444-2, MITF, PDZRN3, PDZRN3-AS1, PPP4R2, PROK2, ROBO2, RYBP, SAMMSON, SHQ1, TAFA1, TAFA4, TMF1, UBA3, ZNF717		See cases	Likely pathogenic (Jan 25, 2013)	no assertion criteria provided
Select item 12343645.	NM_198271.5(LMOD3):c.*281C>A GRCh37: Chr3:69157965 GRCh38: Chr3:69108814	LMOD3		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 11886466.	NM_198271.5(LMOD3):c.*255C>T GRCh37: Chr3:69157991 GRCh38: Chr3:69108840	LMOD3		not provided	Likely benign (Jul 31, 2018)	criteria provided, single submitter
Select item 12226137.	NM_198271.5(LMOD3):c.*152A>C GRCh37: Chr3:69158094 GRCh38: Chr3:69108943	LMOD3		not provided	Benign (Aug 3, 2018)	criteria provided, single submitter
Select item 12780038.	NM_198271.5(LMOD3):c.*96C>T GRCh37: Chr3:69158150 GRCh38: Chr3:69108999	LMOD3		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 11808999.	NM_198271.5(LMOD3):c.*15A>G GRCh37: Chr3:69158231 GRCh38: Chr3:69109080	LMOD3		not provided	Benign (Aug 3, 2018)	criteria provided, single submitter
Select item 65609410.	NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?) GRCh37: Chr3:69158247-69158248 GRCh38: Chr3:69109096-69109097	LMOD3		Nemaline myopathy 10	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 137172311.	NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln) GRCh37: Chr3:69158248 GRCh38: Chr3:69109097	LMOD3		Nemaline myopathy 10	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 206460912.	NM_198271.5(LMOD3):c.1680G>T (p.Ala560=) GRCh37: Chr3:69158249 GRCh38: Chr3:69109098	LMOD3		Nemaline myopathy 10	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 163386313.	NM_198271.5(LMOD3):c.1680G>A (p.Ala560=) GRCh37: Chr3:69158249 GRCh38: Chr3:69109098	LMOD3		Nemaline myopathy 10	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 47531214.	NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val) GRCh37: Chr3:69158250 GRCh38: Chr3:69109099	LMOD3	A560V	not provided, Nemaline myopathy 10	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94032515.	NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs) GRCh37: Chr3:69158252-69158253 GRCh38: Chr3:69109101-69109102	LMOD3	L559fs	Nemaline myopathy 10	Uncertain significance (Sep 9, 2019)	criteria provided, single submitter
Select item 140640916.	NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala) GRCh37: Chr3:69158256 GRCh38: Chr3:69109105	LMOD3	E558A	Nemaline myopathy 10	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 102346917.	NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr) GRCh37: Chr3:69158259 GRCh38: Chr3:69109108	LMOD3	K557T	Nemaline myopathy 10	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 201052018.	NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg) GRCh37: Chr3:69158262 GRCh38: Chr3:69109111	LMOD3	P556R	Nemaline myopathy 10	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 21886619.	NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln) GRCh37: Chr3:69158262 GRCh38: Chr3:69109111	LMOD3	P556Q	Nemaline myopathy 10, not provided, not specified	Conflicting interpretations of pathogenicity (Dec 1, 2022)	criteria provided, conflicting interpretations
Select item 54208420.	NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln) GRCh37: Chr3:69158265 GRCh38: Chr3:69109114	LMOD3	L555Q	Nemaline myopathy 10, Inborn genetic diseases	Uncertain significance (Mar 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 94548521.	NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg) GRCh37: Chr3:69158268 GRCh38: Chr3:69109117	LMOD3	Q554R	Nemaline myopathy 10	Uncertain significance (May 18, 2019)	criteria provided, single submitter
Select item 47531122.	NM_198271.5(LMOD3):c.1659G>T (p.Val553=) GRCh37: Chr3:69158270 GRCh38: Chr3:69109119	LMOD3		Nemaline myopathy 10	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 85621223.	NM_198271.5(LMOD3):c.1657G>A (p.Val553Met) GRCh37: Chr3:69158272 GRCh38: Chr3:69109121	LMOD3	V553M	Nemaline myopathy 10	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 73742424.	NM_198271.5(LMOD3):c.1657-5C>T GRCh37: Chr3:69158277 GRCh38: Chr3:69109126	LMOD3		not provided	Likely benign (Mar 29, 2018)	criteria provided, single submitter
Select item 156975725.	NM_198271.5(LMOD3):c.1657-14T>C GRCh37: Chr3:69158286 GRCh38: Chr3:69109135	LMOD3		Nemaline myopathy 10	Benign (Oct 21, 2022)	criteria provided, single submitter
Select item 124235926.	NM_198271.5(LMOD3):c.1657-26C>G GRCh37: Chr3:69158298 GRCh38: Chr3:69109147	LMOD3		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 119060127.	NM_198271.5(LMOD3):c.1657-129A>G GRCh37: Chr3:69158401 GRCh38: Chr3:69109250	LMOD3		not provided	Likely benign (Jul 17, 2018)	criteria provided, single submitter
Select item 120804428.	NM_198271.5(LMOD3):c.1657-161T>C GRCh37: Chr3:69158433 GRCh38: Chr3:69109282	LMOD3		not provided	Likely benign (Jul 17, 2018)	criteria provided, single submitter
Select item 121286429.	NM_198271.5(LMOD3):c.1657-181T>C GRCh37: Chr3:69158453 GRCh38: Chr3:69109302	LMOD3		not provided	Likely benign (Jan 28, 2020)	criteria provided, single submitter
Select item 123624530.	NM_198271.5(LMOD3):c.1657-231del GRCh37: Chr3:69158503 GRCh38: Chr3:69109352	LMOD3		not provided	Benign (Jul 27, 2018)	criteria provided, single submitter
Select item 120283731.	NM_198271.5(LMOD3):c.1657-253C>T GRCh37: Chr3:69158525 GRCh38: Chr3:69109374	LMOD3		not provided	Likely benign (Jul 17, 2018)	criteria provided, single submitter
Select item 121966932.	NM_198271.5(LMOD3):c.1656+145A>G GRCh37: Chr3:69167705 GRCh38: Chr3:69118554	LMOD3		not provided	Likely benign (Feb 2, 2019)	criteria provided, single submitter
Select item 209467733.	NM_198271.5(LMOD3):c.1656+12G>T GRCh37: Chr3:69167838 GRCh38: Chr3:69118687	LMOD3		Nemaline myopathy 10	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 147246834.	NM_198271.5(LMOD3):c.1656+1G>C GRCh37: Chr3:69167849 GRCh38: Chr3:69118698	LMOD3		Nemaline myopathy 10	Uncertain significance (Aug 18, 2021)	criteria provided, single submitter
Select item 47531035.	NM_198271.5(LMOD3):c.1655C>A (p.Pro552His) GRCh37: Chr3:69167851 GRCh38: Chr3:69118700	LMOD3	P552H	Nemaline myopathy 10, not provided	Benign (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37449836.	NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe) GRCh37: Chr3:69167858 GRCh38: Chr3:69118707	LMOD3	L550F	Nemaline myopathy 10, not provided	Pathogenic (Mar 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54208137.	NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His) GRCh37: Chr3:69167861 GRCh38: Chr3:69118710	LMOD3	Y549H	Nemaline myopathy 10, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 148105738.	NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr) GRCh37: Chr3:69167864 GRCh38: Chr3:69118713	LMOD3	A548T	Nemaline myopathy 10	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 70536239.	NM_198271.5(LMOD3):c.1641C>G (p.Val547=) GRCh37: Chr3:69167865 GRCh38: Chr3:69118714	LMOD3		Nemaline myopathy 10	Likely benign (Nov 8, 2018)	criteria provided, single submitter
Select item 80950440.	NM_198271.5(LMOD3):c.1637G>A (p.Ser546Asn) GRCh37: Chr3:69167869 GRCh38: Chr3:69118718	LMOD3	S546N	not provided	Uncertain significance (May 1, 2016)	criteria provided, single submitter
Select item 265396041.	NM_198271.5(LMOD3):c.1632C>T (p.His544=) GRCh37: Chr3:69167874 GRCh38: Chr3:69118723	LMOD3		not provided	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 147281742.	NM_198271.5(LMOD3):c.1628G>A (p.Arg543His) GRCh37: Chr3:69167878 GRCh38: Chr3:69118727	LMOD3	R543H	Inborn genetic diseases, Nemaline myopathy 10	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69221143.	NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu) GRCh37: Chr3:69167878 GRCh38: Chr3:69118727	LMOD3	R543L	Nemaline myopathy 10	Pathogenic (Jul 5, 2019)	no assertion criteria provided
Select item 220132844.	NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn) GRCh37: Chr3:69167885 GRCh38: Chr3:69118734	LMOD3	D541N	Nemaline myopathy 10	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 70304145.	NM_198271.5(LMOD3):c.1617A>G (p.Leu539=) GRCh37: Chr3:69167889 GRCh38: Chr3:69118738	LMOD3		Nemaline myopathy 10	Benign (Sep 1, 2022)	criteria provided, single submitter
Select item 209374746.	NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val) GRCh37: Chr3:69167899 GRCh38: Chr3:69118748	LMOD3	D536V	Nemaline myopathy 10	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 85205147.	NM_198271.5(LMOD3):c.1606G>C (p.Asp536His) GRCh37: Chr3:69167900 GRCh38: Chr3:69118749	LMOD3	D536H	Nemaline myopathy 10	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 84679248.	NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala) GRCh37: Chr3:69167906 GRCh38: Chr3:69118755	LMOD3	P534A	Nemaline myopathy 10	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 102225349.	NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile) GRCh37: Chr3:69167908 GRCh38: Chr3:69118757	LMOD3	T533I	Nemaline myopathy 10	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 148519250.	NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp) GRCh37: Chr3:69167913 GRCh38: Chr3:69118762	LMOD3	E531D	Nemaline myopathy 10, Inborn genetic diseases	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54209351.	NM_198271.5(LMOD3):c.1585T>C (p.Leu529=) GRCh37: Chr3:69167921 GRCh38: Chr3:69118770	LMOD3		Nemaline myopathy 10	Likely benign (Nov 28, 2020)	criteria provided, single submitter
Select item 76390752.	NM_198271.5(LMOD3):c.1584A>G (p.Pro528=) GRCh37: Chr3:69167922 GRCh38: Chr3:69118771	LMOD3		not provided	Likely benign (Jun 22, 2018)	criteria provided, single submitter
Select item 94526753.	NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr) GRCh37: Chr3:69167927 GRCh38: Chr3:69118776	LMOD3	P527T	Nemaline myopathy 10	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 77252354.	NM_198271.5(LMOD3):c.1579C>T (p.Pro527Ser) GRCh37: Chr3:69167927 GRCh38: Chr3:69118776	LMOD3	P527S	Nemaline myopathy 10	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 57327855.	NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser) GRCh37: Chr3:69167930 GRCh38: Chr3:69118779	LMOD3	P526S	Nemaline myopathy 10	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 213940056.	NM_198271.5(LMOD3):c.1566G>A (p.Pro522=) GRCh37: Chr3:69167940 GRCh38: Chr3:69118789	LMOD3		Nemaline myopathy 10	Likely benign (Apr 4, 2022)	criteria provided, single submitter
Select item 94211957.	NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala) GRCh37: Chr3:69167948 GRCh38: Chr3:69118797	LMOD3	P520A	Nemaline myopathy 10	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 197466558.	NM_198271.5(LMOD3):c.1551G>T (p.Thr517=) GRCh37: Chr3:69167955 GRCh38: Chr3:69118804	LMOD3		Nemaline myopathy 10	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 66616159.	NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met) GRCh37: Chr3:69167956 GRCh38: Chr3:69118805	LMOD3	T517M	Nemaline myopathy 10	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 54208360.	NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn) GRCh37: Chr3:69167962 GRCh38: Chr3:69118811	LMOD3	I515N	Nemaline myopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 147061161.	NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile) GRCh37: Chr3:69167966 GRCh38: Chr3:69118815	LMOD3	V514I	Nemaline myopathy 10	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 219559462.	NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser) GRCh37: Chr3:69167977 GRCh38: Chr3:69118826	LMOD3	N510S	Nemaline myopathy 10	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 47530963.	NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr) GRCh37: Chr3:69167977 GRCh38: Chr3:69118826	LMOD3	N510T	Nemaline myopathy 10	Uncertain significance (Sep 3, 2021)	criteria provided, single submitter
Select item 164057864.	NM_198271.5(LMOD3):c.1527C>T (p.Thr509=) GRCh37: Chr3:69167979 GRCh38: Chr3:69118828	LMOD3		Nemaline myopathy 10	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 47530865.	NM_198271.5(LMOD3):c.1519G>A (p.Glu507Lys) GRCh37: Chr3:69167987 GRCh38: Chr3:69118836	LMOD3	E507K	Inborn genetic diseases, not provided, Nemaline myopathy 10	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 54208866.	NM_198271.5(LMOD3):c.1518C>A (p.Pro506=) GRCh37: Chr3:69167988 GRCh38: Chr3:69118837	LMOD3		Nemaline myopathy 10	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 57495367.	NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly) GRCh37: Chr3:69167999 GRCh38: Chr3:69118848	LMOD3	R503G	Nemaline myopathy 10	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 100244168.	NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly) GRCh37: Chr3:69168001 GRCh38: Chr3:69118850	LMOD3	A502G	Nemaline myopathy 10, not provided	Uncertain significance (Jun 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107771469.	NM_198271.5(LMOD3):c.1500G>A (p.Pro500=) GRCh37: Chr3:69168006 GRCh38: Chr3:69118855	LMOD3		Nemaline myopathy 10	Likely benign (Feb 3, 2022)	criteria provided, single submitter
Select item 47530770.	NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln) GRCh37: Chr3:69168013 GRCh38: Chr3:69118862	LMOD3	R498Q	Nemaline myopathy 10, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198199471.	NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp) GRCh37: Chr3:69168014 GRCh38: Chr3:69118863	LMOD3	R498W	Nemaline myopathy 10	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 71050272.	NM_198271.5(LMOD3):c.1492C>A (p.Arg498=) GRCh37: Chr3:69168014 GRCh38: Chr3:69118863	LMOD3		Nemaline myopathy 10	Likely benign (Mar 14, 2021)	criteria provided, single submitter
Select item 115784573.	NM_198271.5(LMOD3):c.1488A>G (p.Lys496=) GRCh37: Chr3:69168018 GRCh38: Chr3:69118867	LMOD3		Nemaline myopathy 10	Likely benign (Jul 11, 2022)	criteria provided, single submitter
Select item 139809574.	NM_198271.5(LMOD3):c.1484G>A (p.Arg495His) GRCh37: Chr3:69168022 GRCh38: Chr3:69118871	LMOD3	R495H	Nemaline myopathy 10	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 65415175.	NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu) GRCh37: Chr3:69168022 GRCh38: Chr3:69118871	LMOD3	R495L	Nemaline myopathy 10	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 137174276.	NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys) GRCh37: Chr3:69168023 GRCh38: Chr3:69118872	LMOD3	R495C	Nemaline myopathy 10	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 104079077.	NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser) GRCh37: Chr3:69168023 GRCh38: Chr3:69118872	LMOD3	R495S	Nemaline myopathy 10	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 147912478.	NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del) GRCh37: Chr3:69168031-69168033 GRCh38: Chr3:69118880-69118882	LMOD3	R492del	Nemaline myopathy 10	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 139593879.	NM_198271.5(LMOD3):c.1472dup (p.Arg492fs) GRCh37: Chr3:69168033-69168034 GRCh38: Chr3:69118882-69118883	LMOD3	R492fs	Nemaline myopathy 10	Pathogenic (Jul 25, 2022)	criteria provided, single submitter
Select item 65477680.	NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met) GRCh37: Chr3:69168038 GRCh38: Chr3:69118887	LMOD3	L490M	Nemaline myopathy 10	Uncertain significance (Feb 4, 2022)	criteria provided, single submitter
Select item 113183281.	NM_198271.5(LMOD3):c.1464G>A (p.Val488=) GRCh37: Chr3:69168042 GRCh38: Chr3:69118891	LMOD3		Nemaline myopathy 10	Likely benign (Jun 24, 2019)	criteria provided, single submitter
Select item 47530682.	NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala) GRCh37: Chr3:69168046 GRCh38: Chr3:69118895	LMOD3	V487A	not provided, Nemaline myopathy 10	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143692583.	NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly) GRCh37: Chr3:69168050 GRCh38: Chr3:69118899	LMOD3	R486G	Nemaline myopathy 10	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 105130684.	NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp) GRCh37: Chr3:69168050 GRCh38: Chr3:69118899	LMOD3	R486W	Nemaline myopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 76036285.	NM_198271.5(LMOD3):c.1455C>T (p.Phe485=) GRCh37: Chr3:69168051 GRCh38: Chr3:69118900	LMOD3		Nemaline myopathy 10	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 167293786.	NM_198271.5(LMOD3):c.1449C>T (p.Asp483=) GRCh37: Chr3:69168057 GRCh38: Chr3:69118906	LMOD3		Nemaline myopathy 10	Likely benign (Jul 14, 2021)	criteria provided, single submitter
Select item 147787087.	NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu) GRCh37: Chr3:69168057 GRCh38: Chr3:69118906	LMOD3	D483E	Nemaline myopathy 10	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 54208288.	NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn) GRCh37: Chr3:69168065 GRCh38: Chr3:69118914	LMOD3	D481N	Nemaline myopathy 10, Inborn genetic diseases	Uncertain significance (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 236126389.	NM_198271.5(LMOD3):c.1435A>G (p.Arg479Gly) GRCh37: Chr3:69168071 GRCh38: Chr3:69118920	LMOD3	R479G	Inborn genetic diseases	Uncertain significance (Aug 29, 2022)	criteria provided, single submitter
Select item 47530590.	NM_198271.5(LMOD3):c.1428G>A (p.Pro476=) GRCh37: Chr3:69168078 GRCh38: Chr3:69118927	LMOD3		Nemaline myopathy 10	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 85809291.	NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu) GRCh37: Chr3:69168079 GRCh38: Chr3:69118928	LMOD3	P476L	Inborn genetic diseases, Nemaline myopathy 10	Uncertain significance (Aug 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 93775092.	NM_198271.5(LMOD3):c.1423G>A (p.Ala475Thr) GRCh37: Chr3:69168083 GRCh38: Chr3:69118932	LMOD3	A475T	Inborn genetic diseases, Nemaline myopathy 10	Uncertain significance (May 30, 2023)	criteria provided, multiple submitters, no conflicts
Select item 114137293.	NM_198271.5(LMOD3):c.1419G>T (p.Ser473=) GRCh37: Chr3:69168087 GRCh38: Chr3:69118936	LMOD3		Nemaline myopathy 10	Likely benign (Jul 17, 2019)	criteria provided, single submitter
Select item 114104094.	NM_198271.5(LMOD3):c.1419G>A (p.Ser473=) GRCh37: Chr3:69168087 GRCh38: Chr3:69118936	LMOD3		Nemaline myopathy 10	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 244119895.	NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter) GRCh37: Chr3:69168088 GRCh38: Chr3:69118937	LMOD3	S473*	Nemaline myopathy 10	Likely pathogenic (Feb 21, 2023)	criteria provided, single submitter
Select item 153265196.	NM_198271.5(LMOD3):c.1416A>T (p.Pro472=) GRCh37: Chr3:69168090 GRCh38: Chr3:69118939	LMOD3		Nemaline myopathy 10	Likely benign (Oct 30, 2022)	criteria provided, single submitter
Select item 47530497.	NM_198271.5(LMOD3):c.1416A>G (p.Pro472=) GRCh37: Chr3:69168090 GRCh38: Chr3:69118939	LMOD3		Nemaline myopathy 10	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 103483698.	NM_198271.5(LMOD3):c.1415C>A (p.Pro472Gln) GRCh37: Chr3:69168091 GRCh38: Chr3:69118940	LMOD3	P472Q	Nemaline myopathy 10	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 105651199.	NM_198271.5(LMOD3):c.1403T>A (p.Met468Lys) GRCh37: Chr3:69168103 GRCh38: Chr3:69118952	LMOD3	M468K	Nemaline myopathy 10	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1383716100.	NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn) GRCh37: Chr3:69168109 GRCh38: Chr3:69118958	LMOD3	S466N	Nemaline myopathy 10	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter

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