MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:8620
Name:NEMALINE MYOPATHY 10
Definition:
Alternative IDs:DO:DOID:0110931
ParentIDs:MESH:D017696
TreeNumbers:C05.651.575.290/616165 |C10.668.491.550.290/616165
Synonyms:NEM10
Slim Mappings:Musculoskeletal disease|Nervous system disease
Reference: MedGen: 616165
MeSH: 616165
OMIM: 616165;
MSeqDR LSDB:  
Genes: LMOD3;
Phenotypes
1 HP:0000007Autosomal recessive inheritance
2 HP:0002804Arthrogryposis multiplex congenita
3 HP:0001283Bulbar palsy
4 HP:0001558Decreased fetal movement
5 HP:0010628Facial palsy
6 HP:0001290Generalized hypotonia
7 HP:0003324Generalized muscle weakness
8 HP:0000602Ophthalmoplegia
9 HP:0001561Polyhydramnios
10 HP:0001622Premature birth
11 HP:0002747Respiratory insufficiency due to muscle weakness
12 HP:0006829Severe muscular hypotonia Neonatal onset
13 HP:0003202Skeletal muscle atrophy
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NC_000003.11:g.(?_69158226)_(69171557_?)del56203LMOD3Pathogenic-1RCV000546526; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536915822669171557-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?)56203LMOD3Uncertain significance1575869958RCV000812418; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369158247691582483:g.69158247_69158248insA-
NM_198271.5(LMOD3):c.1681T>C (p.Ter561Gln)56203LMOD3Uncertain significance749851437RCV001864624; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691582486915824869158248-
NM_198271.5(LMOD3):c.1680G>A (p.Ala560=)56203LMOD3Likely benign377046368RCV002142743; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691582496915824969158249-
NM_198271.5(LMOD3):c.1680G>T (p.Ala560=)56203LMOD3Likely benign-1RCV002953552; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536915824969158249-
NM_198271.5(LMOD3):c.1679C>T (p.Ala560Val)56203LMOD3Benign/Likely benign17005363RCV000554863|RCV001584341; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369158250691582503:g.69158250G>AClinGen:CA2488685C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1676_1677del (p.Leu559fs)56203LMOD3Uncertain significance2092336582RCV001209890; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369158252691582533:g.69158252_69158253del-
NM_198271.5(LMOD3):c.1673A>C (p.Glu558Ala)56203LMOD3Uncertain significance562551827RCV001935424; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691582566915825669158256-
NM_198271.5(LMOD3):c.1670A>C (p.Lys557Thr)56203LMOD3Uncertain significance2092336619RCV001323513; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691582596915825969158259-
NM_198271.5(LMOD3):c.1667C>A (p.Pro556Gln)56203LMOD3Conflicting interpretations of pathogenicity201205115RCV000202913|RCV000540110|RCV003437005; NMedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369158262691582623:g.69158262G>TClinGen:CA249110C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1667C>G (p.Pro556Arg)56203LMOD3Uncertain significance-1RCV002834043; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536915826269158262NC_000003.11:g.69158262G>C-
NM_198271.5(LMOD3):c.1664T>A (p.Leu555Gln)56203LMOD3Uncertain significance377612351RCV000652462|RCV003278974; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C095012336915826569158265NC_000003.11:g.69158265A>TClinGen:CA2488689C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1661A>G (p.Gln554Arg)56203LMOD3Uncertain significance2092336742RCV001216137; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369158268691582683:g.69158268T>C-
NM_198271.5(LMOD3):c.1659G>T (p.Val553=)56203LMOD3Likely benign947092258RCV000529666; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369158270691582703:g.69158270C>AClinGen:CA76441116C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1657G>A (p.Val553Met)56203LMOD3Uncertain significance762946989RCV001061619; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369158272691582723:g.69158272C>T-
NM_198271.5(LMOD3):c.1657-14T>C56203LMOD3Benign200984574RCV002213369; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691582866915828669158286-
NM_198271.5(LMOD3):c.1656+12G>T56203LMOD3Uncertain significance-1RCV003025548; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916783869167838NC_000003.11:g.69167838C>A-
NM_198271.5(LMOD3):c.1656+1G>C56203LMOD3Uncertain significance1306800094RCV001969289; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691678496916784969167849-
NM_198271.5(LMOD3):c.1655C>A (p.Pro552His)56203LMOD3Benign145387235RCV000555899|RCV001653921; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369167851691678513:g.69167851G>TClinGen:CA2488710C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1648C>T (p.Leu550Phe)56203LMOD3Pathogenic1057519128RCV000415924|RCV000754092; NMedGen:C3661900|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167858691678583:g.69167858G>AClinGen:CA16043765,OMIM:616112.0006CN517202 not provided;
NM_198271.5(LMOD3):c.1645T>C (p.Tyr549His)56203LMOD3Uncertain significance200045981RCV000652459|RCV001584505; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C366190036916786169167861NC_000003.11:g.69167861A>GClinGen:CA2488711C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1642G>A (p.Ala548Thr)56203LMOD3Uncertain significance376653017RCV002000443; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691678646916786469167864-
NM_198271.5(LMOD3):c.1641C>G (p.Val547=)56203LMOD3Likely benign369854516RCV001403220; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167865691678653:g.69167865G>C-
NM_198271.5(LMOD3):c.1628G>T (p.Arg543Leu)56203LMOD3Pathogenic199655993RCV000986099; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167878691678783:g.69167878C>A-
NM_198271.5(LMOD3):c.1628G>A (p.Arg543His)56203LMOD3Uncertain significance199655993RCV001969383|RCV002571345; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691678786916787869167878-
NM_198271.5(LMOD3):c.1621G>A (p.Asp541Asn)56203LMOD3Uncertain significance-1RCV002644360; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916788569167885NC_000003.11:g.69167885C>T-
NM_198271.5(LMOD3):c.1617A>G (p.Leu539=)56203LMOD3Benign374084990RCV000872435; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167889691678893:g.69167889T>C-
NM_198271.5(LMOD3):c.1607A>T (p.Asp536Val)56203LMOD3Uncertain significance-1RCV003020990; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916789969167899NC_000003.11:g.69167899T>A-
NM_198271.5(LMOD3):c.1606G>C (p.Asp536His)56203LMOD3Uncertain significance536143048RCV001056591; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167900691679003:g.69167900C>G-
NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala)56203LMOD3Uncertain significance2092389107RCV001050187; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167906691679063:g.69167906G>C-
NM_198271.5(LMOD3):c.1598C>T (p.Thr533Ile)56203LMOD3Uncertain significance2092389118RCV001322137; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691679086916790869167908-
NM_198271.5(LMOD3):c.1593A>C (p.Glu531Asp)56203LMOD3Uncertain significance749113549RCV002008476|RCV002579645; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691679136916791369167913-
NM_198271.5(LMOD3):c.1585T>C (p.Leu529=)56203LMOD3Likely benign368819551RCV001500941; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916792169167921NC_000003.11:g.69167921A>GClinGen:CA2488727C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1579C>T (p.Pro527Ser)56203LMOD3Likely benign373480967RCV000952100; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167927691679273:g.69167927G>A-
NM_198271.5(LMOD3):c.1579C>A (p.Pro527Thr)56203LMOD3Uncertain significance373480967RCV001215866; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167927691679273:g.69167927G>T-
NM_198271.5(LMOD3):c.1576C>T (p.Pro526Ser)56203LMOD3Uncertain significance201771939RCV000694912; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167930691679303:g.69167930G>A-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1566G>A (p.Pro522=)56203LMOD3Likely benign-1RCV003052579; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916794069167940-
NM_198271.5(LMOD3):c.1558C>G (p.Pro520Ala)56203LMOD3Uncertain significance764451589RCV001212041; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167948691679483:g.69167948G>C-
NM_198271.5(LMOD3):c.1551G>T (p.Thr517=)56203LMOD3Likely benign-1RCV002765731; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916795569167955-
NM_198271.5(LMOD3):c.1550C>T (p.Thr517Met)56203LMOD3Uncertain significance778825271RCV000824596; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167956691679563:g.69167956G>A-
NM_198271.5(LMOD3):c.1544T>A (p.Ile515Asn)56203LMOD3Uncertain significance747837263RCV000652461; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916796269167962NC_000003.11:g.69167962A>TClinGen:CA2488746C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1540G>A (p.Val514Ile)56203LMOD3Uncertain significance2107525731RCV001995266; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691679666916796669167966-
NM_198271.5(LMOD3):c.1529A>C (p.Asn510Thr)56203LMOD3Uncertain significance538402410RCV000539757; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167977691679773:g.69167977T>GClinGen:CA2488747C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1529A>G (p.Asn510Ser)56203LMOD3Uncertain significance-1RCV002628793; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916797769167977NC_000003.11:g.69167977T>C-
NM_198271.5(LMOD3):c.1527C>T (p.Thr509=)56203LMOD3Likely benign746548821RCV002131785; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691679796916797969167979-
NM_198271.5(LMOD3):c.1519G>A (p.Glu507Lys)56203LMOD3Conflicting interpretations of pathogenicity149196259RCV000525027|RCV001576061|RCV002526712; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900|MeSH:D030342,MedGen:C0950123369167987691679873:g.69167987C>TClinGen:CA2488750C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1518C>A (p.Pro506=)56203LMOD3Likely benign377380955RCV000652466; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916798869167988NC_000003.11:g.69167988G>TClinGen:CA2488751C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1507A>G (p.Arg503Gly)56203LMOD3Uncertain significance764972614RCV000697023; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369167999691679993:g.69167999T>C-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1505C>G (p.Ala502Gly)56203LMOD3Uncertain significance775938178RCV001298869|RCV002473256; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN5172023691680016916800169168001-
NM_198271.5(LMOD3):c.1500G>A (p.Pro500=)56203LMOD3Likely benign764693298RCV001392390; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680066916800669168006-
NM_198271.5(LMOD3):c.1493G>A (p.Arg498Gln)56203LMOD3Benign/Likely benign116440123RCV000555540|RCV001547724; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168013691680133:g.69168013C>TClinGen:CA2488759C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1492C>A (p.Arg498=)56203LMOD3Likely benign750486518RCV002065467; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168014691680143:g.69168014G>T-
NM_198271.5(LMOD3):c.1492C>T (p.Arg498Trp)56203LMOD3Uncertain significance-1RCV002794914; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916801469168014NC_000003.11:g.69168014G>A-
NM_198271.5(LMOD3):c.1488A>G (p.Lys496=)56203LMOD3Likely benign756341632RCV001501059; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680186916801869168018-
NM_198271.5(LMOD3):c.1484G>T (p.Arg495Leu)56203LMOD3Uncertain significance780071005RCV000810047; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168022691680223:g.69168022C>A-
NM_198271.5(LMOD3):c.1484G>A (p.Arg495His)56203LMOD3Uncertain significance780071005RCV001912757; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680226916802269168022-
NM_198271.5(LMOD3):c.1483C>A (p.Arg495Ser)56203LMOD3Uncertain significance749726841RCV001344495; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680236916802369168023-
NM_198271.5(LMOD3):c.1483C>T (p.Arg495Cys)56203LMOD3Uncertain significance749726841RCV001864632; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680236916802369168023-
NM_198271.5(LMOD3):c.1473_1475del (p.Arg492del)56203LMOD3Uncertain significance752216316RCV002009715; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680316916803369168030-
NM_198271.5(LMOD3):c.1472dup (p.Arg492fs)56203LMOD3Pathogenic2107525795RCV001891509; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680336916803469168033-
NM_198271.5(LMOD3):c.1468C>A (p.Leu490Met)56203LMOD3Uncertain significance375665119RCV000810799; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168038691680383:g.69168038G>T-
NM_198271.5(LMOD3):c.1464G>A (p.Val488=)56203LMOD3Likely benign532434736RCV001465856; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680426916804269168042-
NM_198271.5(LMOD3):c.1460T>C (p.Val487Ala)56203LMOD3Uncertain significance745318870RCV000540816|RCV002512114; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168046691680463:g.69168046A>GClinGen:CA2488770C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1456C>T (p.Arg486Trp)56203LMOD3Uncertain significance769492984RCV001359326; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680506916805069168050-
NM_198271.5(LMOD3):c.1456C>G (p.Arg486Gly)56203LMOD3Uncertain significance769492984RCV001931759; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680506916805069168050-
NM_198271.5(LMOD3):c.1455C>T (p.Phe485=)56203LMOD3Likely benign774967350RCV002545901; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168051691680513:g.69168051G>A-
NM_198271.5(LMOD3):c.1449C>A (p.Asp483Glu)56203LMOD3Uncertain significance2092390552RCV002018853; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680576916805769168057-
NM_198271.5(LMOD3):c.1449C>T (p.Asp483=)56203LMOD3Likely benign2092390552RCV002210829; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680576916805769168057-
NM_198271.5(LMOD3):c.1441G>A (p.Asp481Asn)56203LMOD3Uncertain significance750502860RCV000652460|RCV002530548; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C095012336916806569168065NC_000003.11:g.69168065C>TClinGen:CA2488778C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1428G>A (p.Pro476=)56203LMOD3Likely benign367573665RCV000525817; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168078691680783:g.69168078C>TClinGen:CA2488783C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu)56203LMOD3Uncertain significance751389222RCV001063897|RCV003353142; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123369168079691680793:g.69168079G>A-
NM_198271.5(LMOD3):c.1423G>A (p.Ala475Thr)56203LMOD3Uncertain significance200273352RCV001206839|RCV003294006; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123369168083691680833:g.69168083C>T-
NM_198271.5(LMOD3):c.1419G>A (p.Ser473=)56203LMOD3Likely benign373942606RCV001478344; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680876916808769168087-
NM_198271.5(LMOD3):c.1419G>T (p.Ser473=)56203LMOD3Likely benign373942606RCV001478810; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680876916808769168087-
NM_198271.5(LMOD3):c.1418C>A (p.Ser473Ter)56203LMOD3Likely pathogenic-1RCV003147027; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916808869168088NC_000003.11:g.69168088G>T-
NM_198271.5(LMOD3):c.1416A>G (p.Pro472=)56203LMOD3Likely benign563513367RCV000547367; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168090691680903:g.69168090T>CClinGen:CA2488788C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1416A>T (p.Pro472=)56203LMOD3Likely benign563513367RCV002085132; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680906916809069168090-
NM_198271.5(LMOD3):c.1415C>A (p.Pro472Gln)56203LMOD3Uncertain significance771791740RCV001337617; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691680916916809169168091-
NM_198271.5(LMOD3):c.1403T>A (p.Met468Lys)56203LMOD3Uncertain significance2107525869RCV001365356; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681036916810369168103-
NM_198271.5(LMOD3):c.1397G>A (p.Ser466Asn)56203LMOD3Uncertain significance768340380RCV001924656; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681096916810969168109-
NM_198271.5(LMOD3):c.1384T>G (p.Phe462Val)56203LMOD3Uncertain significance368084636RCV000817185; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168122691681223:g.69168122A>C-
NM_198271.5(LMOD3):c.1381C>T (p.Pro461Ser)56203LMOD3Uncertain significance-1RCV002899956; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916812569168125NC_000003.11:g.69168125G>A-
NM_198271.5(LMOD3):c.1379T>C (p.Val460Ala)56203LMOD3Uncertain significance1310959515RCV001300290; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681276916812769168127-
NM_198271.5(LMOD3):c.1377T>C (p.Asn459=)56203LMOD3Likely benign371736714RCV000652464; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916812969168129NC_000003.11:g.69168129A>GClinGen:CA2488797C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1370C>T (p.Pro457Leu)56203LMOD3Uncertain significance1323958359RCV001929936; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681366916813669168136-
NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)56203LMOD3Uncertain significance-1RCV003134085; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916813869168138NC_000003.11:g.69168138G>C-
NM_198271.5(LMOD3):c.1367A>T (p.Asn456Ile)56203LMOD3Uncertain significance751407704RCV002050779; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681396916813969168139-
NM_198271.5(LMOD3):c.1355C>T (p.Pro452Leu)56203LMOD3Uncertain significance750436069RCV002001772; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681516916815169168151-
NM_198271.5(LMOD3):c.1355C>G (p.Pro452Arg)56203LMOD3Uncertain significance-1RCV003024686; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916815169168151NC_000003.11:g.69168151G>C-
NM_198271.5(LMOD3):c.1353A>G (p.Pro451=)56203LMOD3Likely benign756048205RCV000976320|RCV001473358; NMedGen:CN517202|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168153691681533:g.69168153T>C-
NM_198271.5(LMOD3):c.1353A>C (p.Pro451=)56203LMOD3Likely benign756048205RCV002144333; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681536916815369168153-
NM_198271.5(LMOD3):c.1350G>A (p.Pro450=)56203LMOD3Likely benign748774777RCV001392267; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681566916815669168156-
NM_198271.5(LMOD3):c.1348C>T (p.Pro450Ser)56203LMOD3Uncertain significance748532243RCV001063069|RCV002555818; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123369168158691681583:g.69168158G>A-
NM_198271.5(LMOD3):c.1342C>T (p.Gln448Ter)56203LMOD3Pathogenic2092391598RCV001783605; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681646916816469168164-
NM_198271.5(LMOD3):c.1341C>T (p.Phe447=)56203LMOD3Likely benign747539477RCV000981590; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168165691681653:g.69168165G>A-
NM_198271.5(LMOD3):c.1338C>T (p.Phe446=)56203LMOD3Likely benign771460251RCV002172970; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691681686916816869168168-
NM_198271.5(LMOD3):c.1336T>C (p.Phe446Leu)56203LMOD3Uncertain significance-1RCV002616273|RCV002623704; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C095012336916817069168170NC_000003.11:g.69168170A>G-
NM_198271.5(LMOD3):c.1335A>G (p.Glu445=)56203LMOD3Likely benign759597732RCV000904462; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168171691681713:g.69168171T>C-
NM_198271.5(LMOD3):c.1332G>T (p.Gln444His)56203LMOD3Uncertain significance765589286RCV000797418; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168174691681743:g.69168174C>A-
NM_198271.5(LMOD3):c.1330C>T (p.Gln444Ter)56203LMOD3Pathogenic-1RCV003083227; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916817669168176NC_000003.11:g.69168176G>A-
NM_198271.5(LMOD3):c.1318G>A (p.Asp440Asn)56203LMOD3Uncertain significance-1RCV002999421; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916818869168188NC_000003.11:g.69168188C>T-
NM_198271.5(LMOD3):c.1313A>T (p.Lys438Met)56203LMOD3Benign/Likely benign6810145RCV000527843|RCV001591288; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168193691681933:g.69168193T>AClinGen:CA2488820C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1312A>G (p.Lys438Glu)56203LMOD3Uncertain significance-1RCV002604503; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916819469168194NC_000003.11:g.69168194T>C-
NM_198271.5(LMOD3):c.1298T>A (p.Leu433Gln)56203LMOD3Uncertain significance371262604RCV001221338; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168208691682083:g.69168208A>T-
NM_198271.5(LMOD3):c.1296G>A (p.Glu432=)56203LMOD3Likely benign-1RCV002893879; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916821069168210-
NM_198271.5(LMOD3):c.1294G>A (p.Glu432Lys)56203LMOD3Uncertain significance1239339268RCV001893480; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682126916821269168212-
NM_198271.5(LMOD3):c.1281C>G (p.Pro427=)56203LMOD3Likely benign1575879433RCV001456011; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168225691682253:g.69168225G>C-
NM_198271.5(LMOD3):c.1280C>T (p.Pro427Leu)56203LMOD3Uncertain significance766271038RCV000796301; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168226691682263:g.69168226G>A-
NM_198271.5(LMOD3):c.1270T>C (p.Leu424=)56203LMOD3Benign72924884RCV000534545|RCV001644662; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168236691682363:g.69168236A>GClinGen:CA2488826C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1268G>C (p.Gly423Ala)56203LMOD3Uncertain significance-1RCV002795475; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916823869168238NC_000003.11:g.69168238C>G-
NM_198271.5(LMOD3):c.1259T>C (p.Leu420Ser)56203LMOD3Uncertain significance1553687786RCV000560759; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168247691682473:g.69168247A>GClinGen:CA353471884C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1257G>C (p.Met419Ile)56203LMOD3Benign/Likely benign75713718RCV000545829|RCV001574282; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168249691682493:g.69168249C>GClinGen:CA2488831C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1256T>C (p.Met419Thr)56203LMOD3Uncertain significance2092392431RCV001961951; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682506916825069168250-
NM_198271.5(LMOD3):c.1252G>A (p.Ala418Thr)56203LMOD3Uncertain significance-1RCV002947498; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916825469168254NC_000003.11:g.69168254C>T-
NM_198271.5(LMOD3):c.1249A>T (p.Ile417Leu)56203LMOD3Uncertain significance745957045RCV000704011; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168257691682573:g.69168257T>A-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1246C>T (p.Leu416=)56203LMOD3Likely benign1440827868RCV002216689; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682606916826069168260-
NM_198271.5(LMOD3):c.1235A>G (p.Glu412Gly)56203LMOD3Uncertain significance962387541RCV001338621; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682716916827169168271-
NM_198271.5(LMOD3):c.1234G>A (p.Glu412Lys)56203LMOD3Uncertain significance2107526085RCV001970917; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682726916827269168272-
NM_198271.5(LMOD3):c.1226A>G (p.Gln409Arg)56203LMOD3Benign/Likely benign116257053RCV000535607|RCV001560469; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168280691682803:g.69168280T>CClinGen:CA2488838C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1219C>T (p.Gln407Ter)56203LMOD3Pathogenic2107526111RCV002035343; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682876916828769168287-
NM_198271.5(LMOD3):c.1213C>G (p.Gln405Glu)56203LMOD3Uncertain significance920889036RCV001334735; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691682936916829369168293-
NM_198271.5(LMOD3):c.1201C>T (p.Arg401Ter)56203LMOD3Pathogenic724159964RCV000149597; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916830569168305NC_000003.11:g.69168305G>AOMIM:616112.0003,ClinGen:CA214788C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1200A>G (p.Lys400=)56203LMOD3Likely benign2107526132RCV001400418; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683066916830669168306-
NM_198271.5(LMOD3):c.1196A>G (p.Gln399Arg)56203LMOD3Uncertain significance2092392939RCV001220182; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168310691683103:g.69168310T>C-
NM_198271.5(LMOD3):c.1194G>C (p.Arg398Ser)56203LMOD3Uncertain significance1291539118RCV001962000; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683126916831269168312-
NM_198271.5(LMOD3):c.1192del (p.Arg398fs)56203LMOD3Pathogenic2107526137RCV001874108; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683146916831469168313-
NM_198271.5(LMOD3):c.1190A>G (p.Gln397Arg)56203LMOD3Conflicting interpretations of pathogenicity199592188RCV000552436|RCV002525319|RCV001531576; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123|MedGen:C3661900369168316691683163:g.69168316T>CClinGen:CA2488842C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1189C>G (p.Gln397Glu)56203LMOD3Uncertain significance1286766855RCV002044569; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683176916831769168317-
NM_198271.5(LMOD3):c.1167_1169del (p.Leu390del)56203LMOD3Uncertain significance777461365RCV002002224; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683376916833969168336-
NM_198271.5(LMOD3):c.1160C>T (p.Thr387Ile)56203LMOD3Uncertain significance758062503RCV002003306; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683466916834669168346-
NM_198271.5(LMOD3):c.1158C>T (p.Val386=)56203LMOD3Likely benign-1RCV002834344; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916834869168348-
NM_198271.5(LMOD3):c.1157T>C (p.Val386Ala)56203LMOD3Uncertain significance2107526166RCV001888946; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683496916834969168349-
NM_198271.5(LMOD3):c.1152G>A (p.Met384Ile)56203LMOD3Uncertain significance1424776785RCV000697582; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168354691683543:g.69168354C>T-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1144C>T (p.Pro382Ser)56203LMOD3Benign74350755RCV000556994|RCV001672865; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168362691683623:g.69168362G>AClinGen:CA2488851C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1140G>A (p.Pro380=)56203LMOD3Likely benign-1RCV003069387; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916836669168366-
NM_198271.5(LMOD3):c.1139C>T (p.Pro380Leu)56203LMOD3Uncertain significance765223466RCV000546840; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168367691683673:g.69168367G>AClinGen:CA2488854C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1130T>G (p.Phe377Cys)56203LMOD3Uncertain significance373483102RCV001808137; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683766916837669168376-
NM_198271.5(LMOD3):c.1130T>C (p.Phe377Ser)56203LMOD3Uncertain significance373483102RCV002025326|RCV002579585; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691683766916837669168376-
NM_198271.5(LMOD3):c.1123T>C (p.Tyr375His)56203LMOD3Likely benign201506296RCV001481284; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168383691683833:g.69168383A>G-
NM_198271.5(LMOD3):c.1111C>A (p.Leu371Met)56203LMOD3Uncertain significance546583536RCV001295975; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683956916839569168395-
NM_198271.5(LMOD3):c.1111C>G (p.Leu371Val)56203LMOD3Uncertain significance546583536RCV001921447; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691683956916839569168395-
NM_198271.5(LMOD3):c.1100ACA[1] (p.Asn368del)56203LMOD3Uncertain significance727502798RCV000149596; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168401691684033:g.69168401_69168403delClinGen:CA214786,OMIM:616112.0002C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1099_1100del (p.Asn367fs)56203LMOD3Pathogenic/Likely pathogenic727502799RCV000149598|RCV000522872; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168406691684073:g.69168406_69168407delClinGen:CA214790,OMIM:616112.0004C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1095G>A (p.Lys365=)56203LMOD3Likely benign185537696RCV002108527; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691684116916841169168411-
NM_198271.5(LMOD3):c.1088T>G (p.Leu363Arg)56203LMOD3Uncertain significance-1RCV002839541; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916841869168418NC_000003.11:g.69168418A>C-
NM_198271.5(LMOD3):c.1081G>A (p.Ala361Thr)56203LMOD3Uncertain significance2092394013RCV001237303; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168425691684253:g.69168425C>T-
NM_198271.5(LMOD3):c.1079T>C (p.Ile360Thr)56203LMOD3Uncertain significance1559661751RCV000687285; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168427691684273:g.69168427A>G-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1069G>T (p.Glu357Ter)56203LMOD3Pathogenic724159965RCV000149599; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168437691684373:g.69168437C>AClinGen:CA214791,OMIM:616112.0005C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1061A>G (p.His354Arg)56203LMOD3Uncertain significance1217215656RCV001909644; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691684456916844569168445-
NM_198271.5(LMOD3):c.1056G>A (p.Leu352=)56203LMOD3Likely benign-1RCV002807145; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916845069168450-
NM_198271.5(LMOD3):c.1052T>C (p.Met351Thr)56203LMOD3Uncertain significance-1RCV002932369; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916845469168454NC_000003.11:g.69168454A>G-
NM_198271.5(LMOD3):c.1031G>A (p.Arg344Gln)56203LMOD3Uncertain significance558303713RCV001243425; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168475691684753:g.69168475C>T-
NM_198271.5(LMOD3):c.1030C>T (p.Arg344Trp)56203LMOD3Uncertain significance778824655RCV000530701; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168476691684763:g.69168476G>AClinGen:CA2488874C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.1020_1023del (p.Thr341fs)56203LMOD3Pathogenic778840325RCV001783607; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691684836916848669168482-
NM_198271.5(LMOD3):c.1015A>G (p.Thr339Ala)56203LMOD3Uncertain significance1273623485RCV001240109; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168491691684913:g.69168491T>C-
NM_198271.5(LMOD3):c.1004A>G (p.Gln335Arg)56203LMOD3Pathogenic1057519129RCV000416034|RCV000754093; NMedGen:C3661900|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168502691685023:g.69168502T>CClinGen:CA16043766,OMIM:616112.0007CN517202 not provided;
NM_198271.5(LMOD3):c.990C>G (p.Ile330Met)56203LMOD3Uncertain significance-1RCV003063243; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916851669168516NC_000003.11:g.69168516G>C-
NM_198271.5(LMOD3):c.990C>A (p.Ile330=)56203LMOD3Likely benign-1RCV003045241; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916851669168516-
NM_198271.5(LMOD3):c.987C>A (p.Ala329=)56203LMOD3Likely benign1367220865RCV001416984; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168519691685193:g.69168519G>TClinGen:CA434426521C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.985G>A (p.Ala329Thr)56203LMOD3Uncertain significance-1RCV002586447; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916852169168521NC_000003.11:g.69168521C>T-
NM_198271.5(LMOD3):c.980T>C (p.Ile327Thr)56203LMOD3Uncertain significance-1RCV003017676; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916852669168526NC_000003.11:g.69168526A>G-
NM_198271.5(LMOD3):c.976G>C (p.Gly326Arg)56203LMOD3Uncertain significance2107526347RCV001364566; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691685306916853069168530-
NM_198271.5(LMOD3):c.971del (p.Gly324fs)56203LMOD3Pathogenic2107526351RCV001938248; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691685356916853569168534-
NM_198271.5(LMOD3):c.961T>C (p.Phe321Leu)56203LMOD3Uncertain significance2092395041RCV001942786; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691685456916854569168545-
NM_198271.5(LMOD3):c.951C>G (p.Ile317Met)56203LMOD3Uncertain significance761586160RCV001314775; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691685556916855569168555-
NM_198271.5(LMOD3):c.944_945del (p.Leu315fs)56203LMOD3Pathogenic-1RCV003228190; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916856169168562-
NM_198271.5(LMOD3):c.927T>C (p.Asn309=)56203LMOD3Likely benign181434087RCV000532830; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168579691685793:g.69168579A>GClinGen:CA2488889C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.920G>A (p.Arg307His)56203LMOD3Uncertain significance756497709RCV001372216; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691685866916858669168586-
NM_198271.5(LMOD3):c.906G>A (p.Leu302=)56203LMOD3Likely benign370070559RCV001451123; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686006916860069168600-
NM_198271.5(LMOD3):c.895G>A (p.Ala299Thr)56203LMOD3Uncertain significance758653889RCV001245941; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168611691686113:g.69168611C>T-
NM_198271.5(LMOD3):c.882dup (p.Asp295fs)56203LMOD3Pathogenic-1RCV003100635; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916862369168624NC_000003.11:g.69168624dup-
NM_198271.5(LMOD3):c.878G>A (p.Gly293Asp)56203LMOD3Benign111797345RCV000558808|RCV001662599; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168628691686283:g.69168628C>TClinGen:CA2488899C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.875T>C (p.Val292Ala)56203LMOD3Uncertain significance1575880432RCV000816214; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168631691686313:g.69168631A>G-
NM_198271.5(LMOD3):c.872A>G (p.Asn291Ser)56203LMOD3Uncertain significance768467240RCV001054729; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168634691686343:g.69168634T>C-
NM_198271.5(LMOD3):c.872A>C (p.Asn291Thr)56203LMOD3Uncertain significance-1RCV002796382; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916863469168634NC_000003.11:g.69168634T>G-
NM_198271.5(LMOD3):c.862A>C (p.Ser288Arg)56203LMOD3Uncertain significance2092395759RCV001305280; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686446916864469168644-
NM_198271.5(LMOD3):c.843C>T (p.Asn281=)56203LMOD3Likely benign1268359340RCV001487163; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686636916866369168663-
NM_198271.5(LMOD3):c.839A>G (p.Lys280Arg)56203LMOD3Uncertain significance1435079305RCV001325029; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686676916866769168667-
NM_198271.5(LMOD3):c.838A>G (p.Lys280Glu)56203LMOD3Uncertain significance934465837RCV001229012; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168668691686683:g.69168668T>C-
NM_198271.5(LMOD3):c.837G>A (p.Lys279=)56203LMOD3Benign/Likely benign185967498RCV000865175|RCV001563020; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168669691686693:g.69168669C>T-
NM_198271.5(LMOD3):c.832A>G (p.Met278Val)56203LMOD3Uncertain significance755520605RCV002028092; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686746916867469168674-
NM_198271.5(LMOD3):c.823G>A (p.Val275Ile)56203LMOD3Uncertain significance777811622RCV001995754; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686836916868369168683-
NM_198271.5(LMOD3):c.819C>T (p.Asp273=)56203LMOD3Likely benign375767322RCV000652465; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916868769168687NC_000003.11:g.69168687G>AClinGen:CA2488916C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.817G>T (p.Asp273Tyr)56203LMOD3Uncertain significance757466929RCV001960067; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691686896916868969168689-
NM_198271.5(LMOD3):c.806A>G (p.Glu269Gly)56203LMOD3Uncertain significance2107526495RCV001962230; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691687006916870069168700-
NM_198271.5(LMOD3):c.797T>C (p.Ile266Thr)56203LMOD3Uncertain significance545644080RCV001872584; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691687096916870969168709-
NM_198271.5(LMOD3):c.788T>C (p.Ile263Thr)56203LMOD3Conflicting interpretations of pathogenicity9835034RCV000544001|RCV001562953; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168718691687183:g.69168718A>GClinGen:CA2488922C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.779T>C (p.Leu260Pro)56203LMOD3Conflicting interpretations of pathogenicity1553687898RCV000498177|RCV000529092; NMedGen:CN517202|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168727691687273:g.69168727A>GClinGen:CA353474761C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.778C>T (p.Leu260=)56203LMOD3Likely benign760458494RCV000951975; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168728691687283:g.69168728G>A-
NM_198271.5(LMOD3):c.777C>A (p.Asn259Lys)56203LMOD3Uncertain significance2107526531RCV001966623; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691687296916872969168729-
NM_198271.5(LMOD3):c.761A>G (p.Asp254Gly)56203LMOD3Uncertain significance905218627RCV001062550; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168745691687453:g.69168745T>C-
NM_198271.5(LMOD3):c.759T>C (p.Pro253=)56203LMOD3Benign115972674RCV000556318|RCV001619790; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369168747691687473:g.69168747A>GClinGen:CA2488929C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.744T>A (p.Val248=)56203LMOD3Likely benign1047754733RCV001398956; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691687626916876269168762-
NM_198271.5(LMOD3):c.723_733del (p.Asp242fs)56203LMOD3Pathogenic/Likely pathogenic769824247RCV001008818|RCV001784553; NMedGen:C3661900|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168773691687833:g.69168773_69168783del-
NM_198271.5(LMOD3):c.704C>G (p.Ser235Ter)56203LMOD3Pathogenic2092396963RCV001993220; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691688026916880269168802-
NM_198271.5(LMOD3):c.695C>T (p.Thr232Ile)56203LMOD3Uncertain significance2107526596RCV002046035; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691688116916881169168811-
NM_198271.5(LMOD3):c.685A>G (p.Lys229Glu)56203LMOD3Uncertain significance2107526606RCV001893698; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691688216916882169168821-
NM_198271.5(LMOD3):c.675C>G (p.Thr225=)56203LMOD3Likely benign1006337657RCV001503833; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691688316916883169168831-
NM_198271.5(LMOD3):c.671A>G (p.Asp224Gly)56203LMOD3Uncertain significance898638017RCV000541468; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168835691688353:g.69168835T>CClinGen:CA76453508C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.667C>G (p.Leu223Val)56203LMOD3Uncertain significance2092397307RCV001037360; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168839691688393:g.69168839G>C-
NM_198271.5(LMOD3):c.660G>C (p.Lys220Asn)56203LMOD3Uncertain significance778737371RCV001889705; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691688466916884669168846-
NM_198271.5(LMOD3):c.656A>G (p.Lys219Arg)56203LMOD3Uncertain significance190038977RCV000702960; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168850691688503:g.69168850T>C-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.642G>A (p.Ser214=)56203LMOD3Benign9815992RCV000531146|RCV001683586; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C366190036916886469168864NC_000003.11:g.69168864C>TClinGen:CA2488941C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.641C>T (p.Ser214Leu)56203LMOD3Uncertain significance-1RCV002727001; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916886569168865NC_000003.11:g.69168865G>A-
NM_198271.5(LMOD3):c.633A>C (p.Lys211Asn)56203LMOD3Uncertain significance-1RCV002590966; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916887369168873NC_000003.11:g.69168873T>G-
NM_198271.5(LMOD3):c.611A>T (p.Glu204Val)56203LMOD3Uncertain significance2107526679RCV001922417; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691688956916889569168895-
NM_198271.5(LMOD3):c.608C>G (p.Pro203Arg)56203LMOD3Conflicting interpretations of pathogenicity775919681RCV000596439|RCV001078491; NMedGen:CN517202|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168898691688983:g.69168898G>CClinGen:CA2488951C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.575C>T (p.Thr192Ile)56203LMOD3Uncertain significance1408867451RCV001923334; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691689316916893169168931-
NM_198271.5(LMOD3):c.563G>A (p.Cys188Tyr)56203LMOD3Uncertain significance-1RCV003022914; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916894369168943NC_000003.11:g.69168943C>T-
NM_198271.5(LMOD3):c.547A>G (p.Asn183Asp)56203LMOD3Uncertain significance-1RCV002966253; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916895969168959NC_000003.11:g.69168959T>C-
NM_198271.5(LMOD3):c.545G>T (p.Arg182Ile)56203LMOD3Uncertain significance2107526736RCV001867418; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691689616916896169168961-
NM_198271.5(LMOD3):c.523G>A (p.Gly175Ser)56203LMOD3Uncertain significance2092398483RCV001314094; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691689836916898369168983-
NM_198271.5(LMOD3):c.522A>G (p.Glu174=)56203LMOD3Likely benign777811015RCV002097812; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691689846916898469168984-
NM_198271.5(LMOD3):c.521A>T (p.Glu174Val)56203LMOD3Uncertain significance1559662229RCV000693383; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369168985691689853:g.69168985T>A-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.511A>G (p.Arg171Gly)56203LMOD3Uncertain significance376560960RCV001352295|RCV003169752; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691689956916899569168995-
NM_198271.5(LMOD3):c.510C>G (p.Asn170Lys)56203LMOD3Uncertain significance1280888308RCV001312746; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691689966916899669168996-
NM_198271.5(LMOD3):c.507G>A (p.Thr169=)56203LMOD3Likely benign-1RCV002998917; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916899969168999-
NM_198271.5(LMOD3):c.506C>T (p.Thr169Met)56203LMOD3Uncertain significance181564355RCV000812257; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169000691690003:g.69169000G>A-
NM_198271.5(LMOD3):c.506C>G (p.Thr169Arg)56203LMOD3Uncertain significance181564355RCV001218314; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169000691690003:g.69169000G>C-
NM_198271.5(LMOD3):c.495G>C (p.Glu165Asp)56203LMOD3Uncertain significance1488501537RCV002010298|RCV002642071; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691690116916901169169011-
NM_198271.5(LMOD3):c.484G>A (p.Asp162Asn)56203LMOD3Uncertain significance551988491RCV001233825; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169022691690223:g.69169022C>T-
NM_198271.5(LMOD3):c.481G>A (p.Asp161Asn)56203LMOD3Uncertain significance1019240148RCV001308970; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690256916902569169025-
NM_198271.5(LMOD3):c.476del (p.Gly159fs)56203LMOD3Pathogenic1426709672RCV000542385; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169030691690303:g.69169030_69169030delClinGen:CA544004934C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.474A>T (p.Glu158Asp)56203LMOD3Uncertain significance-1RCV002736722; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916903269169032NC_000003.11:g.69169032T>A-
NM_198271.5(LMOD3):c.468CGA[1] (p.Asp157del)56203LMOD3Uncertain significance759855873RCV001053580|RCV001759991; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202369169033691690353:g.69169033_69169035del-
NM_198271.5(LMOD3):c.472G>A (p.Glu158Lys)56203LMOD3Uncertain significance988718606RCV001359801; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690346916903469169034-
NM_198271.5(LMOD3):c.471C>T (p.Asp157=)56203LMOD3Likely benign568706767RCV001398788; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169035691690353:g.69169035G>AClinGen:CA2488973C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.469G>A (p.Asp157Asn)56203LMOD3Uncertain significance574142691RCV001056918; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169037691690373:g.69169037C>T-
NM_198271.5(LMOD3):c.456TGA[7] (p.Asp155_Asp157dup)56203LMOD3Uncertain significance752238157RCV001037591; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169038691690393:g.69169038_69169039insTCATCATCA-
NM_198271.5(LMOD3):c.468C>A (p.Asp156Glu)56203LMOD3Uncertain significance537602397RCV001363698; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690386916903869169038-
NM_198271.5(LMOD3):c.456TGA[5] (p.Asp157_Glu158insAsp)56203LMOD3Uncertain significance-1RCV003112753; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916903869169039NC_000003.11:g.69169041ATC[5]-
NM_198271.5(LMOD3):c.456TGA[3] (p.Asp157del)56203LMOD3Likely benign752238157RCV001438967|RCV001547049; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C36619003691690396916904169169038-
NM_198271.5(LMOD3):c.466G>C (p.Asp156His)56203LMOD3Uncertain significance371587555RCV001062769|RCV003346295; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123369169040691690403:g.69169040C>G-
NM_198271.5(LMOD3):c.465T>C (p.Asp155=)56203LMOD3Likely benign-1RCV002710359; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916904169169041-
NM_198271.5(LMOD3):c.464A>G (p.Asp155Gly)56203LMOD3Uncertain significance2092399198RCV001219674; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169042691690423:g.69169042T>C-
NM_198271.5(LMOD3):c.463G>A (p.Asp155Asn)56203LMOD3Uncertain significance767649855RCV001295622|RCV002538458; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691690436916904369169043-
NM_198271.5(LMOD3):c.461A>G (p.Asp154Gly)56203LMOD3Conflicting interpretations of pathogenicity773327736RCV001963911|RCV002569257; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C09501233691690456916904569169045-
NM_198271.5(LMOD3):c.459T>C (p.Asp153=)56203LMOD3Likely benign557184030RCV002215884; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690476916904769169047-
NM_198271.5(LMOD3):c.453_458del (p.Glu151_Asp152del)56203LMOD3Uncertain significance2092399265RCV001055239; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169048691690533:g.69169048_69169053del-
NM_198271.5(LMOD3):c.456T>A (p.Asp152Glu)56203LMOD3Uncertain significance1388186593RCV000549137; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169050691690503:g.69169050A>TClinGen:CA353476598C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.444AGA[5] (p.Glu151dup)56203LMOD3Likely benign753459417RCV001496614; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690506916905169169050-
NM_198271.5(LMOD3):c.444AGA[3] (p.Glu151del)56203LMOD3Uncertain significance753459417RCV000538756|RCV003159133; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369169051691690533:g.69169051_69169053delClinGen:CA2488980C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.444AGA[2] (p.Glu150_Glu151del)56203LMOD3Uncertain significance753459417RCV001896928; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690516916905669169050-
NM_198271.5(LMOD3):c.453A>T (p.Glu151Asp)56203LMOD3Uncertain significance376142558RCV000687402; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916905369169053NC_000003.11:g.69169053T>A-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.450A>G (p.Glu150=)56203LMOD3Likely benign1575881414RCV001447938; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169056691690563:g.69169056T>C-
NM_198271.5(LMOD3):c.432TGAAGAAGA[1] (p.144DEE[1])56203LMOD3Uncertain significance1179727503RCV001238949; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169057691690653:g.69169057_69169065del-
NM_198271.5(LMOD3):c.441_443del (p.Asp147del)56203LMOD3Uncertain significance2107526849RCV001366872; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690636916906569169062-
NM_198271.5(LMOD3):c.438A>G (p.Glu146=)56203LMOD3Likely benign758216222RCV000527304; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169068691690683:g.69169068T>CClinGen:CA2488986C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.435A>G (p.Glu145=)56203LMOD3Likely benign2107526854RCV001884507; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690716916907169169071-
NM_198271.5(LMOD3):c.430G>A (p.Asp144Asn)56203LMOD3Uncertain significance-1RCV002983083; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916907669169076NC_000003.11:g.69169076C>T-
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp)56203LMOD3Benign/Likely benign111848977RCV000534015|RCV001566848|RCV001821635; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900|MedGen:CN169374369169080691690803:g.69169080T>GClinGen:CA2488990C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.426A>G (p.Glu142=)56203LMOD3Benign/Likely benign111848977RCV000548929|RCV001577394; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369169080691690803:g.69169080T>CClinGen:CA2488989C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.417T>C (p.Asn139=)56203LMOD3Likely benign2107526866RCV002158664; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690896916908969169089-
NM_198271.5(LMOD3):c.416A>G (p.Asn139Ser)56203LMOD3Conflicting interpretations of pathogenicity150380359RCV000560112|RCV002526713; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C0950123369169090691690903:g.69169090T>CClinGen:CA2488991C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.413G>T (p.Ser138Ile)56203LMOD3Uncertain significance2092399518RCV001229233; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169093691690933:g.69169093C>A-
NM_198271.5(LMOD3):c.413G>A (p.Ser138Asn)56203LMOD3Uncertain significance2092399518RCV002017373; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690936916909369169093-
NM_198271.5(LMOD3):c.410G>A (p.Ser137Asn)56203LMOD3Uncertain significance1452040409RCV001341785; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691690966916909669169096-
NM_198271.5(LMOD3):c.406G>A (p.Gly136Ser)56203LMOD3Uncertain significance755727319RCV001944582; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691006916910069169100-
NM_198271.5(LMOD3):c.400T>C (p.Ser134Pro)56203LMOD3Uncertain significance1283065889RCV001232914; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169106691691063:g.69169106A>G-
NM_198271.5(LMOD3):c.400T>G (p.Ser134Ala)56203LMOD3Uncertain significance1283065889RCV001364574; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691066916910669169106-
NM_198271.5(LMOD3):c.392A>G (p.Lys131Arg)56203LMOD3Uncertain significance779719094RCV002020710; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691146916911469169114-
NM_198271.5(LMOD3):c.390T>G (p.Asn130Lys)56203LMOD3Uncertain significance190846774RCV001937910; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691166916911669169116-
NM_198271.5(LMOD3):c.385G>T (p.Ala129Ser)56203LMOD3Uncertain significance1392468825RCV001933199; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691216916912169169121-
NM_198271.5(LMOD3):c.375T>C (p.Asn125=)56203LMOD3Likely benign375595641RCV000652469; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169131691691313:g.69169131A>GClinGen:CA2489001C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.370A>G (p.Asn124Asp)56203LMOD3Uncertain significance-1RCV002988777; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916913669169136NC_000003.11:g.69169136T>C-
NM_198271.5(LMOD3):c.369C>T (p.Leu123=)56203LMOD3Likely benign2092399816RCV001429196; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691376916913769169137-
NM_198271.5(LMOD3):c.362_366del (p.Glu121fs)56203LMOD3Pathogenic1274699363RCV000534944; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169140691691443:g.69169140_69169144delClinGen:CA544004937C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.366del (p.Lys122fs)56203LMOD3Likely pathogenic1368453406RCV000986098; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169140691691403:g.69169140_69169140del-
NM_198271.5(LMOD3):c.366G>T (p.Lys122Asn)56203LMOD3Uncertain significance759804680RCV002049426; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691406916914069169140-
NM_198271.5(LMOD3):c.332G>A (p.Arg111His)56203LMOD3Uncertain significance370401036RCV000556478|RCV003343922; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MeSH:D030342,MedGen:C095012336916917469169174NC_000003.11:g.69169174C>TClinGen:CA2489011C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.331C>T (p.Arg111Cys)56203LMOD3Uncertain significance373887230RCV001221231; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169175691691753:g.69169175G>A-
NM_198271.5(LMOD3):c.321A>G (p.Glu107=)56203LMOD3Likely benign754611563RCV001428246; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691691856916918569169185-
NM_198271.5(LMOD3):c.312G>A (p.Glu104=)56203LMOD3Likely benign-1RCV003041810; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916919469169194-
NM_198271.5(LMOD3):c.307G>A (p.Glu103Lys)56203LMOD3Uncertain significance-1RCV002598338; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916919969169199NC_000003.11:g.69169199C>T-
NM_198271.5(LMOD3):c.296A>G (p.Glu99Gly)56203LMOD3Uncertain significance1258289949RCV000546225; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169210691692103:g.69169210T>CClinGen:CA353477580C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.295-3T>C56203LMOD3Uncertain significance377200088RCV000807742; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369169214691692143:g.69169214A>G-
NM_198271.5(LMOD3):c.295-4G>A56203LMOD3Likely benign778291725RCV002079865; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691692156916921569169215-
NM_198271.5(LMOD3):c.295-5T>C56203LMOD3Likely benign747449404RCV002011149; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691692166916921669169216-
NM_198271.5(LMOD3):c.295-20C>G56203LMOD3Likely benign-1RCV002899579; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536916923169169231NC_000003.11:g.69169231G>C-
NM_198271.5(LMOD3):c.294+20C>T56203LMOD3Likely benign-1RCV002685491; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917122469171224NC_000003.11:g.69171224G>A-
NM_198271.5(LMOD3):c.294+17G>A56203LMOD3Likely benign192602600RCV002101487; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691712276917122769171227-
NM_198271.5(LMOD3):c.294+15G>A56203LMOD3Likely benign200811551RCV002206966; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691712296917122969171229-
NM_198271.5(LMOD3):c.292G>A (p.Glu98Lys)56203LMOD3Uncertain significance1467437318RCV000690235; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171246691712463:g.69171246C>T-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.278_288del (p.Thr93fs)56203LMOD3Pathogenic-1RCV002582199; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917125069171260NC_000003.11:g.69171251_69171261del-
NM_198271.5(LMOD3):c.276C>T (p.Val92=)56203LMOD3Likely benign1436647116RCV002176129; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691712626917126269171262-
NM_198271.5(LMOD3):c.272C>T (p.Pro91Leu)56203LMOD3Uncertain significance-1RCV002581524; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917126669171266NC_000003.11:g.69171266G>A-
NM_198271.5(LMOD3):c.266G>A (p.Arg89Gln)56203LMOD3Uncertain significance771330798RCV000800407; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171272691712723:g.69171272C>T-
NM_198271.5(LMOD3):c.263A>T (p.Glu88Val)56203LMOD3Uncertain significance1289180080RCV002023770; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691712756917127569171275-
NM_198271.5(LMOD3):c.253C>A (p.Leu85Met)56203LMOD3Benign/Likely benign80113271RCV000501024|RCV000962031|RCV001618715; NMedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C366190036917128569171285NC_000003.11:g.69171285G>TClinGen:CA2489043CN169374 not specified;
NM_198271.5(LMOD3):c.252_253delinsAA (p.Met84_Leu85delinsIleMet)56203LMOD3Benign1553688177RCV000532478; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917128569171286NC_000003.11:g.69171285_69171286delinsTTClinGen:CA658657321C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.252G>A (p.Met84Ile)56203LMOD3Benign/Likely benign78574883RCV000502166|RCV000962032|RCV001613321; NMedGen:CN169374|MONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C366190036917128669171286NC_000003.11:g.69171286C>TClinGen:CA2489044CN169374 not specified;
NM_198271.5(LMOD3):c.248G>A (p.Arg83His)56203LMOD3Benign35740823RCV000558600|RCV001613369; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369171290691712903:g.69171290C>TClinGen:CA2489046C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)56203LMOD3Conflicting interpretations of pathogenicity200367429RCV000875474|RCV001759656; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369171291691712913:g.69171291G>A-
NM_198271.5(LMOD3):c.230G>T (p.Trp77Leu)56203LMOD3Uncertain significance2092410842RCV001969579; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691713086917130869171308-
NM_198271.5(LMOD3):c.226T>C (p.Tyr76His)56203LMOD3Uncertain significance-1RCV002846286; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917131269171312NC_000003.11:g.69171312A>G-
NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)56203LMOD3Uncertain significance-1RCV003134086; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917132469171324NC_000003.11:g.69171324C>T-
NM_198271.5(LMOD3):c.203A>G (p.His68Arg)56203LMOD3Uncertain significance752432695RCV000652463; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917133569171335NC_000003.11:g.69171335T>CClinGen:CA2489053C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.200A>G (p.Asn67Ser)56203LMOD3Likely benign570247132RCV000543646; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171338691713383:g.69171338T>CClinGen:CA2489054C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.186G>A (p.Pro62=)56203LMOD3Likely benign757791893RCV000533448; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171352691713523:g.69171352C>TClinGen:CA2489057C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.171A>G (p.Gln57=)56203LMOD3Likely benign756313861RCV001418711; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691713676917136769171367-
NM_198271.5(LMOD3):c.169C>A (p.Gln57Lys)56203LMOD3Uncertain significance1559663262RCV000697981; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171369691713693:g.69171369G>T-C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn)56203LMOD3Uncertain significance1469953832RCV001334738; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691713726917137269171372-
NM_198271.5(LMOD3):c.160C>G (p.Gln54Glu)56203LMOD3Uncertain significance780274932RCV000808728; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171378691713783:g.69171378G>C-
NM_198271.5(LMOD3):c.155T>C (p.Met52Thr)56203LMOD3Uncertain significance1252489316RCV001246108; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171383691713833:g.69171383A>G-
NM_198271.5(LMOD3):c.154del (p.Gly51_Met52insTer)56203LMOD3Pathogenic1369933918RCV002004895; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691713846917138469171383-
NM_198271.5(LMOD3):c.150G>A (p.Val50=)56203LMOD3Uncertain significance371717342RCV001053936; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171388691713883:g.69171388C>T-
NM_198271.5(LMOD3):c.149T>A (p.Val50Glu)56203LMOD3Uncertain significance2092411499RCV001209541; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171389691713893:g.69171389A>T-
NM_198271.5(LMOD3):c.148G>A (p.Val50Met)56203LMOD3Uncertain significance144761436RCV001069320|RCV001799731|RCV003346299; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900|MeSH:D030342,MedGen:C0950123369171390691713903:g.69171390C>T-
NM_198271.5(LMOD3):c.147C>T (p.Pro49=)56203LMOD3Likely benign184423475RCV000652470; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171391691713913:g.69171391G>AClinGen:CA2489064C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.142C>G (p.Leu48Val)56203LMOD3Uncertain significance777262094RCV001070220; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171396691713963:g.69171396G>C-
NM_198271.5(LMOD3):c.138dup (p.Ser47fs)56203LMOD3Pathogenic727502797RCV000149595; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171399691714003:g.69171399_69171400insGClinGen:CA214785,OMIM:616112.0001C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.138C>T (p.Pro46=)56203LMOD3Likely benign776597543RCV001476243; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714006917140069171400-
NM_198271.5(LMOD3):c.137C>T (p.Pro46Leu)56203LMOD3Uncertain significance-1RCV002923365; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917140169171401NC_000003.11:g.69171401G>A-
NM_198271.5(LMOD3):c.135C>T (p.Asp45=)56203LMOD3Benign/Likely benign138906041RCV000537176|RCV001550693; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:C3661900369171403691714033:g.69171403G>AClinGen:CA2489069C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.132T>C (p.Pro44=)56203LMOD3Benign774850879RCV000652467; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917140669171406NC_000003.11:g.69171406A>GClinGen:CA2489070C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.129C>T (p.Ala43=)56203LMOD3Likely benign201709177RCV000549594|RCV001555376; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202369171409691714093:g.69171409G>AClinGen:CA2489071C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.127G>A (p.Ala43Thr)56203LMOD3Uncertain significance2092411822RCV001334736; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714116917141169171411-
NM_198271.5(LMOD3):c.123C>T (p.Val41=)56203LMOD3Likely benign373026196RCV000652468; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917141569171415NC_000003.11:g.69171415G>AClinGen:CA2489074C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.117G>C (p.Met39Ile)56203LMOD3Uncertain significance2092411983RCV001069132; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171421691714213:g.69171421C>G-
NM_198271.5(LMOD3):c.116T>C (p.Met39Thr)56203LMOD3Uncertain significance-1RCV002968125; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917142269171422NC_000003.11:g.69171422A>G-
NM_198271.5(LMOD3):c.114A>G (p.Glu38=)56203LMOD3Likely benign2107528263RCV001937550; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714246917142469171424-
NM_198271.5(LMOD3):c.112G>T (p.Glu38Ter)56203LMOD3Pathogenic-1RCV003054525; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917142669171426NC_000003.11:g.69171426C>A-
NM_198271.5(LMOD3):c.111G>A (p.Ser37=)56203LMOD3Likely benign756673570RCV001502255; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714276917142769171427-
NM_198271.5(LMOD3):c.110C>G (p.Ser37Trp)56203LMOD3Uncertain significance572092252RCV001347932; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714286917142869171428-
NM_198271.5(LMOD3):c.110C>T (p.Ser37Leu)56203LMOD3Uncertain significance572092252RCV001942752; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714286917142869171428-
NM_198271.5(LMOD3):c.102del (p.Glu34fs)56203LMOD3Pathogenic2092412254RCV001212493; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171436691714363:g.69171436_69171436del-
NM_198271.5(LMOD3):c.96G>T (p.Leu32=)56203LMOD3Likely benign-1RCV002913588; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917144269171442-
NM_198271.5(LMOD3):c.80_95del (p.Asn26_Leu27insTer)56203LMOD3Pathogenic1212229943RCV001953774; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714436917145869171442-
NM_198271.5(LMOD3):c.89A>C (p.Glu30Ala)56203LMOD3Uncertain significance1314021691RCV000813394; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171449691714493:g.69171449T>G-
NM_198271.5(LMOD3):c.76A>G (p.Asn26Asp)56203LMOD3Uncertain significance541421744RCV001878481; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714626917146269171462-
NM_198271.5(LMOD3):c.56A>G (p.Asn19Ser)56203LMOD3Uncertain significance769663073RCV001218476; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171482691714823:g.69171482T>C-
NM_198271.5(LMOD3):c.54T>C (p.Ile18=)56203LMOD3Likely benign1311578143RCV001398052; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714846917148469171484-
NM_198271.5(LMOD3):c.52A>G (p.Ile18Val)56203LMOD3Uncertain significance1165265351RCV001069928; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171486691714863:g.69171486T>C-
NM_198271.5(LMOD3):c.46GAG[1] (p.Glu17del)56203LMOD3Uncertain significance770015687RCV001320005; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714876917148969171486-
NM_198271.5(LMOD3):c.48G>A (p.Glu16=)56203LMOD3Likely benign-1RCV003063193; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917149069171490-
NM_198271.5(LMOD3):c.43G>C (p.Asp15His)56203LMOD3Uncertain significance762330680RCV002036625; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691714956917149569171495-
NM_198271.5(LMOD3):c.43G>A (p.Asp15Asn)56203LMOD3Uncertain significance-1RCV002624246; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917149569171495NC_000003.11:g.69171495C>T-
NM_198271.5(LMOD3):c.42C>T (p.Leu14=)56203LMOD3Likely benign555650704RCV000874765; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165369171496691714963:g.69171496G>A-
NM_198271.5(LMOD3):c.39_41del (p.Leu14del)56203LMOD3Benign139192915RCV000549842|RCV001539876; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:616165|MedGen:CN517202369171497691714993:g.69171497_69171499delClinGen:CA2489093C4015360 616165 Nemaline myopathy 10;
NM_198271.5(LMOD3):c.26A>G (p.Asp9Gly)56203LMOD3Uncertain significance-1RCV002296495; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691715126917151269171512-
NM_198271.5(LMOD3):c.23C>G (p.Ser8Ter)56203LMOD3Likely pathogenic2092413018RCV001328828; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691715156917151569171515-
NM_198271.5(LMOD3):c.17G>C (p.Arg6Thr)56203LMOD3Uncertain significance1185485203RCV001898508; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:6161653691715216917152169171521-
NM_198271.5(LMOD3):c.17G>T (p.Arg6Ile)56203LMOD3Uncertain significance-1RCV002607467; NMONDO:MONDO:0014513,MedGen:C4015360,OMIM:61616536917152169171521NC_000003.11:g.69171521C>A-
MSeqDR Portal