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:8623
Name:NEMALINE MYOPATHY 3;NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS,
Definition:
Alternative IDs:DO:DOID:0110927
ParentIDs:MESH:C579880|MESH:D017696
TreeNumbers:C05.651.575.290/161800 |C05.651.575/C579880/161800 |C10.668.491.550.290/161800 |C10.668.491.550/C579880/161800
Synonyms:INCLUDED |MYOPATHY, ACTIN, CONGENITAL, WITH CORES, INCLUDED |NEMALINE MYOPATHY 3, WITH INTRANUCLEAR RODS, INCLUDED
Slim Mappings:Musculoskeletal disease|Nervous system disease
Reference: MedGen: 161800
MeSH: 161800
OMIM: 161800;
MSeqDR LSDB:  
Genes: ACTA1;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000007Autosomal recessive inheritance
3 HP:0003810Late-onset distal muscle weakness
4 HP:0001284Areflexia
5 HP:0002804Arthrogryposis multiplex congenita
6 HP:0001283Bulbar palsy
7 HP:0001558Decreased fetal movement
8 HP:0001644Dilated cardiomyopathy
NAMDC:  Dilated cardiomyopathy
HP:0040283
9 HP:0002015Dysphagia
NAMDC:  Dysphagia
10 HP:0003458EMG: myopathic abnormalities
11 HP:0003445EMG: neuropathic changes
12 HP:0010628Facial palsy
13 HP:0008872Feeding difficulties in infancy
14 HP:0002359Frequent falls
15 HP:0003324Generalized muscle weakness
16 HP:0001425Heterogeneous
17 HP:0000218High palate
18 HP:0003307Hyperlordosis
19 HP:0001347Hyperreflexia
NAMDC:  Hyperreactive reflexes (incl. Babinski sign, Hoffman sign)
HP:0040283
20 HP:0001276HypertoniaHP:0040283
21 HP:0001265Hyporeflexia
22 HP:0003690Limb muscle weakness
23 HP:0000298Mask-like facies
24 HP:0008180Mildly elevated creatine phosphokinase
25 HP:0001270Motor delay
26 HP:0002058Myopathic facies
27 HP:0003722Neck flexor weakness
28 HP:0003798Nemaline bodies
29 HP:0001319Neonatal hypotonia
NAMDC:  Floppy baby
30 HP:0001761Pes cavus
31 HP:0003812Phenotypic variability
32 HP:0001561Polyhydramnios
33 HP:0003701Proximal muscle weakness
NAMDC:  Muscle weakness: proximal
34 HP:0002747Respiratory insufficiency due to muscle weakness
35 HP:0000278Retrognathia
36 HP:0002063RigidityHP:0040283
37 HP:0002650Scoliosis
38 HP:0001533Slender build
39 HP:0003306Spinal rigidity
40 HP:0003803Type 1 muscle fiber predominance
41 HP:0002515Waddling gait
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_001100.4(ACTA1):c.*248G>A58ACTA1Conflicting interpretations of pathogenicityrs551585351RCV001101716|RCV001101717|RCV001101718; NMONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229566998229566998CT1:g.229566998C>T-
NM_001100.4(ACTA1):c.*66G>A58ACTA1Uncertain significancers1403018747RCV001101721|RCV001101719|RCV001101720; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:20201229567180229567180CT1:g.229567180C>T-
NC_000001.11:g.(?_229431489)_(229433125_?)dup58ACTA1Uncertain significance-1RCV001032273; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567236229568872nana-1-
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln)58ACTA1Pathogenicrs1553255288RCV000639665; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567248229567248AG1:g.229567248A>GClinGen:CA345144029C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser)58ACTA1Likely pathogenicrs1571892193RCV000853386; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567250229567250AG1:g.229567250A>G-
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=)58ACTA1Uncertain significancers1659932688RCV001096303|RCV001101723|RCV001101722; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229567252229567252GA1:g.229567252G>A-
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)58ACTA1Pathogenic/Likely pathogenicrs1571892196RCV000986565; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567253229567253CA1:g.229567253C>A-
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=)58ACTA1Conflicting interpretations of pathogenicityrs142311664RCV000546819|RCV001096304|RCV001096305; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:20201229567255229567255TC1:g.229567255T>CClinGen:CA1442703C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu)58ACTA1Likely pathogenicrs1571892209RCV000819861; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567257229567257TC1:g.229567257T>C-
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met)58ACTA1Uncertain significancers886046075RCV000293945|RCV000337259|RCV000375556; NMONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:20201229567267229567267GCNC_000001.10:g.229567267G>CClinGen:CA10609268CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr)58ACTA1Uncertain significancers1553255290RCV000531952; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567271229567271GTNC_000001.10:g.229567271G>TClinGen:CA345144188C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu)58ACTA1Likely pathogenicrs1553255293RCV000497587|RCV001857006; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567274229567274GA1:g.229567274G>AClinGen:CA345144203CN517202 not provided;
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu)58ACTA1Pathogenicrs121909524RCV000019946; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567305229567305TG1:g.229567305T>GClinGen:CA258138,UniProtKB:P68133#VAR_015587,OMIM:102610.0006C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys)58ACTA1Uncertain significancers587777354RCV000115017; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567306229567306CA1:g.229567306C>AUniProtKB:P68133#VAR_076428,OMIM:102610.0017,ClinGen:CA269775C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile)58ACTA1Uncertain significancers745494410RCV001036447|RCV001759936; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229567309229567309CG1:g.229567309C>G-
NM_001100.4(ACTA1):c.1065G>A (p.Gln355=)58ACTA1Likely benignrs375945657RCV000606806|RCV001404154; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567315229567315CT1:g.229567315C>TClinGen:CA1442712CN169374 not specified;
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs)58ACTA1Uncertain significance-1RCV002048222; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567320229567336AAGGTGGACAGCGAGGCCA229567319-
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala)58ACTA1Uncertain significancers1659934469RCV001046505; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567323229567323TC1:g.229567323T>C-
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro)58ACTA1Likely pathogenicrs1553255301RCV000543487; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567326229567326AG1:g.229567326A>GClinGen:CA345144596C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1050G>T (p.Ser350=)58ACTA1Likely benign-1RCV001421129; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567330229567330CA229567330-
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu)58ACTA1Pathogenic-1RCV001956125; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567331229567331GA229567331-
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln)58ACTA1Conflicting interpretations of pathogenicity-1RCV001756621|RCV002032774; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567337229567337AT229567337-
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp)58ACTA1Uncertain significancers1558081360RCV000695656; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567349229567349CTNC_000001.10:g.229567349C>T-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn)58ACTA1Uncertain significancers1553255306RCV000532868; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567366229567366TG1:g.229567366T>GClinGen:CA345144865C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu)58ACTA1Uncertain significancers1057518493RCV000698258; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567376229567376GANC_000001.10:g.229567376G>A-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg)58ACTA1Likely pathogenicrs1057518493RCV000986566; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567376229567376GC1:g.229567376G>C-
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala)58ACTA1Uncertain significancers1558081384RCV000707527; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567377229567377GC1:g.229567377G>C-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu)58ACTA1Conflicting interpretations of pathogenicityrs1553255312RCV000639667|RCV001531666; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229567379229567379GA1:g.229567379G>AClinGen:CA345144967C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg)58ACTA1Likely pathogenicrs1553255312RCV001333759; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567379229567379GC229567379-
NM_001100.4(ACTA1):c.996C>A (p.Ile332=)58ACTA1Benign/Likely benignrs74897770RCV000079471|RCV000550376|RCV001096306|RCV001098048; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229567384229567384GT1:g.229567384G>TClinGen:CA147051C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.990+6TGG[3]58ACTA1Likely benign-1RCV002121765; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567456229567457GGCCA229567456-
NM_001100.4(ACTA1):c.990+1G>T58ACTA1Pathogenic/Likely pathogenicrs372686280RCV000535490|RCV002060316; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229567467229567467CANC_000001.10:g.229567467C>AClinGen:CA1442746C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.983_985del (p.Lys328del)58ACTA1Uncertain significancers1659939983RCV001300496; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567473229567475ATCTA229567472-
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn)58ACTA1Pathogenicrs398122936RCV000043506; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567474229567474CG1:g.229567474C>GClinGen:CA263209,UniProtKB:P68133#VAR_076427,OMIM:102610.0016C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.984G>A (p.Lys328=)58ACTA1Likely benign-1RCV002147691; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567474229567474CT229567474-
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile)58ACTA1Uncertain significancers1553255334RCV000524895; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567477229567477CGNC_000001.10:g.229567477C>GClinGen:CA345145281C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys)58ACTA1Likely pathogenic-1RCV001991129; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567478229567478AT229567478-
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del)58ACTA1Uncertain significancers1553255336RCV000551010; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567490229567495TGCCAGCT1:g.229567490_229567495delClinGen:CA658656988C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.966G>A (p.Leu322=)58ACTA1Uncertain significancers765996798RCV000282005|RCV000336975|RCV000407276; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229567492229567492CTNC_000001.10:g.229567492C>TClinGen:CA10610293CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln)58ACTA1Uncertain significancers1571892527RCV000811875; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567493229567493AT1:g.229567493A>T-
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val)58ACTA1Uncertain significancers1659940726RCV001229392; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567494229567494GC1:g.229567494G>C-
NM_001100.4(ACTA1):c.963G>A (p.Ala321=)58ACTA1Likely benignrs374599062RCV000873766; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567495229567495CT1:g.229567495C>T-
NM_001100.4(ACTA1):c.963G>C (p.Ala321=)58ACTA1Likely benignrs374599062RCV000923390; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567495229567495CG1:g.229567495C>G-
NM_001100.4(ACTA1):c.960C>T (p.Thr320=)58ACTA1Likely benign-1RCV002213525; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567498229567498GA229567498-
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys)58ACTA1Likely pathogenicrs878854374RCV000228987; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567535229567535TCNC_000001.10:g.229567535T>CClinGen:CA10575963C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His)58ACTA1Uncertain significance-1RCV002035186; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567536229567536AG229567536-
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp)58ACTA1Uncertain significance-1RCV001944746; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567547229567547CT229567547-
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe)58ACTA1Uncertain significancers1553255349RCV000536409; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567560229567560CANC_000001.10:g.229567560C>AClinGen:CA345145766C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys)58ACTA1Uncertain significancers533868659RCV000705849; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567561229567561GTNC_000001.10:g.229567561G>T-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=)58ACTA1Conflicting interpretations of pathogenicityrs770931836RCV000916099|RCV001098049|RCV001098050|RCV001098051; NMedGen:CN517202|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567570229567570AG1:g.229567570A>G-
NM_001100.4(ACTA1):c.882C>T (p.Asp294=)58ACTA1Likely benign-1RCV001496208; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567576229567576GA229567576-
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val)58ACTA1Pathogenicrs121909529RCV000019951|RCV001028007; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567577229567577TA1:g.229567577T>AClinGen:CA341495,UniProtKB:P68133#VAR_032918,OMIM:102610.0011C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_001100.4(ACTA1):c.868G>C (p.Asp290His)58ACTA1Pathogenicrs1553255354RCV000622327|RCV001253385; NMeSH:D030342,MedGen:C0950123|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567590229567590CG1:g.229567590C>GClinGen:CA345145962C0950123 Inborn genetic diseases;
NM_001100.4(ACTA1):c.867C>T (p.Ile289=)58ACTA1Conflicting interpretations of pathogenicityrs140074813RCV000194143|RCV000874048|RCV001099821|RCV001099822|RCV001099823; NMedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:20201229567591229567591GA1:g.229567591G>AClinGen:CA208117CN169374 not specified;
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn)58ACTA1Uncertain significancers1659943773RCV001224045; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567592229567592AT1:g.229567592A>T-
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys)58ACTA1Pathogenic-1RCV001956127; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567612229567612GC229567612-
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys)58ACTA1Uncertain significancers1659944113RCV001052411; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567616229567616TC1:g.229567616T>C-
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His)58ACTA1Pathogenic-1RCV001387150; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567617229567617AG229567617-
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val)58ACTA1Pathogenicrs1553255357RCV000498676|RCV001387151|RCV001813784; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:4479771229567637229567637GA1:g.229567637G>AClinGen:CA345146227CN517202 not provided;
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu)58ACTA1Pathogenicrs1553255357RCV000810378; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567637229567637GT1:g.229567637G>T-
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg)58ACTA1Likely pathogenicrs1553255360RCV000557960; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567646229567646ACNC_000001.10:g.229567646A>CClinGen:CA345146282C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.811A>G (p.Met271Val)58ACTA1Uncertain significancers1553255361RCV000542841; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567647229567647TC1:g.229567647T>CClinGen:CA345146297C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.809-2A>T58ACTA1Pathogenicrs1301902450RCV000754737; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567651229567651TANC_000001.10:g.229567651T>A-
NM_001100.4(ACTA1):c.809-10C>A58ACTA1Uncertain significancers1659945481RCV001069625; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567659229567659GT1:g.229567659G>T-
NM_001100.4(ACTA1):c.809-14_809-13insA58ACTA1Conflicting interpretations of pathogenicityrs749384329RCV000273528|RCV000368019|RCV002059454|RCV001795911; NMONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0018958,MedGen:C0206157,OMIM:PS161800, Orphanet:607|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:20201229567662229567663GGTNC_000001.10:g.229567662_229567663insTClinGen:CA1442768CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.809-14G>C58ACTA1Benignrs6673359RCV000079468|RCV000260106|RCV000355009|RCV000332911|RCV001594827; NMedGen:CN169374|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229567663229567663CG1:g.229567663C>GClinGen:CA147048CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.809-18dup58ACTA1Benign/Likely benignrs398123565RCV000079469|RCV002055120; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567663229567664CCG1:g.229567663_229567664insGClinGen:CA147049CN169374 not specified;
NM_001100.4(ACTA1):c.809-14G>T58ACTA1Likely benign-1RCV002101907; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567663229567663CA229567663-
NM_001100.4(ACTA1):c.809-18_809-17insT58ACTA1Likely benign-1RCV002099638; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567666229567667GGA229567666-
NM_001100.4(ACTA1):c.808+13C>T58ACTA1Likely benignrs539461449RCV000252351|RCV002057443; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567728229567728GANC_000001.10:g.229567728G>AClinGen:CA1442799CN169374 not specified;
NM_001100.4(ACTA1):c.808+9C>A58ACTA1Likely benign-1RCV001436176; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567732229567732GT229567732-
NM_001100.4(ACTA1):c.808+6C>A58ACTA1Uncertain significancers200342114RCV000533418; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567735229567735GT1:g.229567735G>TClinGen:CA1442800C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.808+3G>A58ACTA1Uncertain significance-1RCV001973058; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567738229567738CT229567738-
NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys)58ACTA1Pathogenicrs121909525RCV000019947; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567741229567741CA1:g.229567741C>AOMIM:102610.0007,ClinGen:CA258140C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg)58ACTA1Pathogenicrs121909525RCV000217314|RCV000558844; NMONDO:MONDO:0019056,MedGen:C0027868, Orphanet:68381|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567741229567741CG1:g.229567741C>GClinGen:CA10576392C0270960 255300 Congenital myopathy;
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser)58ACTA1Pathogenicrs1558081605RCV000700123; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567746229567746AG1:g.229567746A>G-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys)58ACTA1Uncertain significance-1RCV002020125; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567749229567749GC229567749-
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser)58ACTA1Uncertain significancers1553255405RCV000639670; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567753229567753GA1:g.229567753G>AClinGen:CA345146450C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.786G>C (p.Thr262=)58ACTA1Conflicting interpretations of pathogenicityrs141030526RCV000877200|RCV001099824|RCV001099825|RCV001545990; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MedGen:CN5172021229567763229567763CG1:g.229567763C>G-
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val)58ACTA1Pathogenic/Likely pathogenicrs121909523RCV000019945|RCV001270724|RCV001804741; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800||MedGen:CN5172021229567767229567767TA1:g.229567767T>AClinGen:CA258136,UniProtKB:P68133#VAR_011685,OMIM:102610.0005C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.774C>T (p.Arg258=)58ACTA1Likely benign-1RCV001505059; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567775229567775GA229567775-
NM_001100.4(ACTA1):c.767G>A (p.Arg256His)58ACTA1Pathogenicrs1659954003RCV001038161; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567782229567782CT1:g.229567782C>T-
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys)58ACTA1Likely pathogenicrs1558081624RCV000688041; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567783229567783GA1:g.229567783G>A-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys)58ACTA1Uncertain significance-1RCV001360926; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567792229567792CA229567792-
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr)58ACTA1Conflicting interpretations of pathogenicity-1RCV001814481|RCV001873814; NHuman Phenotype Ontology:HP:0003011,Human Phenotype Ontology:HP:0003197,Human Phenotype Ontology:HP:0003708,MedGen:C4021745|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567800229567800AG229567800-
NM_001100.4(ACTA1):c.744G>A (p.Gln248=)58ACTA1Likely benign-1RCV002098779; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567805229567805CT229567805-
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys)58ACTA1Uncertain significancers1659954634RCV001314426; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567807229567807GT229567807-
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg)58ACTA1Conflicting interpretations of pathogenicityrs1057521117RCV000428933|RCV000755047|RCV001214452; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800; |MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567810229567810CG1:g.229567810C>GClinGen:CA16603588CN517202 not provided;
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu)58ACTA1Pathogenicrs748592740RCV000995476; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567811229567811GT1:g.229567811G>T-
NM_001100.4(ACTA1):c.730C>T (p.Leu244=)58ACTA1Likely benign-1RCV002083567; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567819229567819GA229567819-
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys)58ACTA1Uncertain significancers367543051RCV000034936|RCV001347111; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567822229567822CT1:g.229567822C>TClinGen:CA344563,UniProtKB:P68133#VAR_062463C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro)58ACTA1Uncertain significancers1571893051RCV000796425; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567836229567836AG1:g.229567836A>G-
NM_001100.4(ACTA1):c.712del (p.Leu238fs)58ACTA1Pathogenicrs1211561143RCV000820216; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567837229567837AGA1:g.229567837_229567837del-
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr)58ACTA1Pathogenic-1RCV001946892; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567845229567845GT229567845-
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn)58ACTA1Uncertain significance-1RCV001961805; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567851229567852GCTT229567851-
NM_001100.4(ACTA1):c.693G>A (p.Thr231=)58ACTA1Likely benign-1RCV001497665; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567856229567856CT229567856-
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu)58ACTA1Uncertain significancers794727714RCV000813903; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567864229567864TA1:g.229567864T>A-
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln)58ACTA1Likely pathogenicrs1558081664RCV000702576; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567867229567867CG1:g.229567867C>G-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter)58ACTA1Pathogenicrs1558081664RCV000995477|RCV001869389; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567867229567867CA1:g.229567867C>A-
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln)58ACTA1Conflicting interpretations of pathogenicityrs1057521118RCV000440063|RCV000555238; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567873229567873CG1:g.229567873C>GClinGen:CA16603575C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys)58ACTA1Uncertain significancers1057521118RCV001064147; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567873229567873CT1:g.229567873C>T-
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro)58ACTA1Conflicting interpretations of pathogenicityrs121909530RCV000019952|RCV001851954; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567881229567881AG1:g.229567881A>GClinGen:CA341497,UniProtKB:P68133#VAR_032917,OMIM:102610.0012C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter)58ACTA1Pathogenicrs201823652RCV000544960; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567889229567889GT1:g.229567889G>TClinGen:CA1442816C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe)58ACTA1Uncertain significancers1571893107RCV000816590; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567890229567890TA1:g.229567890T>A-
NM_001100.4(ACTA1):c.645G>A (p.Lys215=)58ACTA1Likely benignrs1553255420RCV000529766; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567904229567904CT1:g.229567904C>TClinGen:CA423755241C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser)58ACTA1Uncertain significance-1RCV002044909; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567927229567927GT229567927-
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val)58ACTA1Pathogenicrs1571893145RCV000805645; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567932229567932GA1:g.229567932G>A-
NM_001100.4(ACTA1):c.617-5C>T58ACTA1Benign/Likely benignrs199804338RCV000246994|RCV000555861|RCV001705343; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229567937229567937GANC_000001.10:g.229567937G>AClinGen:CA1442820C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.617-5C>A58ACTA1Uncertain significance-1RCV001360101|RCV001751704; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229567937229567937GT229567937-
NM_001100.4(ACTA1):c.616+19C>T58ACTA1Likely benign-1RCV002194636; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567998229567998GA229567998-
NM_001100.4(ACTA1):c.616+19C>A58ACTA1Likely benign-1RCV002149080; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229567998229567998GT229567998-
NM_001100.4(ACTA1):c.616+5G>A58ACTA1Uncertain significancers773010488RCV001053888; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568012229568012CT1:g.229568012C>T-
NM_001100.4(ACTA1):c.616+4C>G58ACTA1Conflicting interpretations of pathogenicityrs371799971RCV001345584|RCV001557498; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568013229568013GC229568013-
NM_001100.4(ACTA1):c.616+4C>T58ACTA1Uncertain significance-1RCV002048600; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568013229568013GA229568013-
NM_001100.4(ACTA1):c.616+1G>A58ACTA1Pathogenicrs111812550RCV000541274; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568016229568016CTNC_000001.10:g.229568016C>TClinGen:CA38815843C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr)58ACTA1Pathogenic/Likely pathogenicrs1057521119RCV000418889|RCV000802023; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568017229568017CT1:g.229568017C>TClinGen:CA16603572CN517202 not provided;
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu)58ACTA1Uncertain significancers1255258064RCV000526434; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568027229568027GT1:g.229568027G>TClinGen:CA345147799C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys)58ACTA1Pathogenic-1RCV001384934; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568034229568034TC229568034-
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn)58ACTA1Pathogenicrs1553255432RCV000552290; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568035229568035AT1:g.229568035A>TClinGen:CA345147880C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys)58ACTA1Likely pathogenicrs1659962016RCV001219997; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568041229568041GA1:g.229568041G>A-
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp)58ACTA1Pathogenicrs869312739RCV000210030|RCV000414423|RCV001853353; NMONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:447977|MedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568042229568042CA1:g.229568042C>AClinGen:CA353465,UniProtKB:P68133#VAR_076426,OMIM:102610.0018C4225181 616852 Myopathy, scapulohumeroperoneal;
NM_001100.4(ACTA1):c.588T>C (p.Thr196=)58ACTA1Likely benign-1RCV002085874; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568045229568045AG229568045-
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile)58ACTA1Uncertain significance-1RCV001988135; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568046229568046GA229568046-
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly)58ACTA1Pathogenicrs1571893319RCV000798724; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568076229568076TC1:g.229568076T>C-
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn)58ACTA1Likely pathogenic-1RCV001959680; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568077229568077CT229568077-
NM_001100.4(ACTA1):c.555C>T (p.Arg185=)58ACTA1Likely benignrs759606148RCV000938415|RCV001445770; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568078229568078GA1:g.229568078G>A-
NM_001100.4(ACTA1):c.555C>A (p.Arg185=)58ACTA1Likely benign-1RCV002094109; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568078229568078GT229568078-
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys)58ACTA1Pathogenicrs1064794287RCV000541948; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568080229568080GA1:g.229568080G>AClinGen:CA345148281C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.549G>A (p.Ala183=)58ACTA1Benign/Likely benignrs200094415RCV000321403|RCV000380619|RCV000951734|RCV001815307; NMONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568084229568084CTNC_000001.10:g.229568084C>TClinGen:CA1442842CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.546G>A (p.Leu182=)58ACTA1Likely benign-1RCV001503617; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568087229568087CT229568087-
NM_001100.4(ACTA1):c.541del (p.Asp181fs)58ACTA1Pathogenicrs759242559RCV000479633|RCV001384035; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568092229568092TCTNC_000001.10:g.229568093delClinGen:CA1442845CN517202 not provided;
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro)58ACTA1Uncertain significancers1558081797RCV000679903; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568094229568094AG1:g.229568094A>G-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.529A>G (p.Ile177Val)58ACTA1Likely pathogenicrs1558081804RCV000754736; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568104229568104TCNC_000001.10:g.229568104T>C-
NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu)58ACTA1Likely pathogenicrs1057519311RCV000415638; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568112229568112GA1:g.229568112G>AClinGen:CA16043983C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met)58ACTA1Uncertain significance-1RCV002004899; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568116229568116GT229568116-
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val)58ACTA1Uncertain significancers587780272RCV001317632; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568118229568118GA229568118-
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp)58ACTA1Pathogenic-1RCV001999819; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568124229568124CT229568124-
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu)58ACTA1Pathogenicrs121909522RCV000019944; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568140229568140CA1:g.229568140C>AClinGen:CA258134,UniProtKB:P68133#VAR_011684,OMIM:102610.0004C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.493G>A (p.Val165Met)58ACTA1Pathogenicrs121909522RCV000019954|RCV001781286; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568140229568140CT1:g.229568140C>TClinGen:CA258144,UniProtKB:P68133#VAR_062448,OMIM:102610.0014C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.489C>A (p.His163Gln)58ACTA1Pathogenicrs1571893383RCV000853389; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568144229568144GT1:g.229568144G>T-
NM_001100.4(ACTA1):c.480C>A (p.Gly160=)58ACTA1Uncertain significancers1571893385RCV001101814|RCV001101813|RCV001101815; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229568153229568153GT1:g.229568153G>T-
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser)58ACTA1Conflicting interpretations of pathogenicityrs1064794652RCV000486223|RCV000679902; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568155229568155CT1:g.229568155C>TClinGen:CA16617085C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del)58ACTA1Uncertain significancers1553255444RCV000527348; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568155229568172CCGTCGCCGGAGTCCAGCACNC_000001.10:g.229568157_229568174delClinGen:CA658656989
NM_001100.4(ACTA1):c.462G>T (p.Val154=)58ACTA1Likely benign-1RCV001411723; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568171229568171CA229568171-
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala)58ACTA1Likely pathogenicrs1553255446RCV000639668; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568172229568172AG1:g.229568172A>GClinGen:CA345148921C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu)58ACTA1Uncertain significancers768144106RCV001060207; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568173229568173CA1:g.229568173C>A-
NM_001100.4(ACTA1):c.459C>A (p.Ile153=)58ACTA1Likely benignrs780711799RCV000915488|RCV001502328; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568174229568174GT1:g.229568174G>T-
NM_001100.4(ACTA1):c.455-8G>A58ACTA1Uncertain significance-1RCV002032113; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568186229568186CT229568186-
NM_001100.4(ACTA1):c.455-9C>G58ACTA1Uncertain significance-1RCV001925377; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568187229568187GC229568187-
NM_001100.4(ACTA1):c.455-53A>C58ACTA1Benignrs527621RCV000836004|RCV001549052|RCV001549053|RCV001549051; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:4479771229568231229568231TG1:g.229568231T>G-
NM_001100.4(ACTA1):c.454+15C>T58ACTA1Benign/Likely benignrs201388631RCV000842308|RCV002067557; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568288229568288GA1:g.229568288G>A-
NM_001100.4(ACTA1):c.454+15C>A58ACTA1Likely benign-1RCV002203251; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568288229568288GT229568288-
NM_001100.4(ACTA1):c.454+11G>A58ACTA1Likely benignrs551674486RCV000437975|RCV002065087; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568292229568292CT1:g.229568292C>TClinGen:CA1442875CN169374 not specified;
NM_001100.4(ACTA1):c.454+10C>A58ACTA1Likely benign-1RCV001428938; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568293229568293GT229568293-
NM_001100.4(ACTA1):c.454+3G>T58ACTA1Conflicting interpretations of pathogenicityrs200976037RCV000292022|RCV000345366|RCV000407640; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568300229568300CANC_000001.10:g.229568300C>AClinGen:CA1442878CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.453C>A (p.Thr151=)58ACTA1Benign/Likely benignrs76030344RCV000252038|RCV000346884|RCV000406644|RCV000548943|RCV001082073; NMedGen:CN169374|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568304229568304GT1:g.229568304G>TClinGen:CA1442879CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.453C>T (p.Thr151=)58ACTA1Uncertain significancers76030344RCV000535829; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568304229568304GA1:g.229568304G>AClinGen:CA423755160C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.453C>G (p.Thr151=)58ACTA1Conflicting interpretations of pathogenicityrs76030344RCV001096397|RCV001096399|RCV001096398; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229568304229568304GC1:g.229568304G>C-
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn)58ACTA1Uncertain significance-1RCV002048773; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568305229568305GT229568305-
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser)58ACTA1Pathogenicrs1553255479RCV000639666; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568308229568308GC1:g.229568308G>CClinGen:CA345149092C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys)58ACTA1Uncertain significancers398123564RCV000079466|RCV001854402; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568311229568311CT1:g.229568311C>TClinGen:CA221488CN169374 not specified;
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser)58ACTA1Likely pathogenicrs398123563RCV000578272|RCV000790672; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568315229568315CT1:g.229568315C>TClinGen:CA221485C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg)58ACTA1Conflicting interpretations of pathogenicityrs398123563RCV000387173|RCV001305261; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568315229568315CG1:g.229568315C>GClinGen:CA10602749CN517202 not provided;
NM_001100.4(ACTA1):c.441C>T (p.Ser147=)58ACTA1Likely benign-1RCV001476144; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568316229568316GA229568316-
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val)58ACTA1Uncertain significancers1659973054RCV001052130; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568320229568320GA1:g.229568320G>A-
NM_001100.4(ACTA1):c.436del (p.Ala146fs)58ACTA1Pathogenic-1RCV001959102; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568321229568321GCG229568320-
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter)58ACTA1Likely pathogenicrs371410845RCV000261100|RCV001814140; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800; MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020; MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:4479771229568322229568322GT1:g.229568322G>TClinGen:CA1442883CN517202 not provided;
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=)58ACTA1Conflicting interpretations of pathogenicityrs371410845RCV001098139|RCV001098140|RCV001098141; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568322229568322GA1:g.229568322G>A-
NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe)58ACTA1Pathogenic/Likely pathogenicrs886039557RCV000255918|RCV001217596; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568327229568327GA1:g.229568327G>AClinGen:CA10588284CN517202 not provided;
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro)58ACTA1Likely pathogenicrs1659973563RCV001048636; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568330229568330AG1:g.229568330A>G-
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro)58ACTA1Uncertain significancers1553255482RCV000533758; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568332229568332AG1:g.229568332A>GClinGen:CA345149206C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg)58ACTA1Uncertain significance-1RCV001939933; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568332229568332AC229568332-
NM_001100.4(ACTA1):c.423G>A (p.Val141=)58ACTA1Likely benignrs553019935RCV000924459|RCV001419802; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568334229568334CT1:g.229568334C>T-
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly)58ACTA1Pathogenicrs1435160117RCV000685030; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568338229568338GCNC_000001.10:g.229568338G>C-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp)58ACTA1Pathogenic/Likely pathogenic-1RCV001808988; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568338229568338GT229568338-
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met)58ACTA1Pathogenicrs121909526RCV000019948; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568343229568343GC1:g.229568343G>CClinGen:CA258142,UniProtKB:P68133#VAR_011683,OMIM:102610.0008C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile)58ACTA1Likely pathogenicrs1553255486RCV000528006|RCV000658552; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568355229568355CT1:g.229568355C>TClinGen:CA345149353C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile)58ACTA1Pathogenicrs1553255486RCV001260935; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568355229568355CA1:g.229568355C>A-
NM_001100.4(ACTA1):c.400A>G (p.Met134Val)58ACTA1Pathogenicrs1659974377RCV001333760; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568357229568357TC229568357-
NM_001100.4(ACTA1):c.400del (p.Met134fs)58ACTA1Pathogenic-1RCV002035327; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568357229568357ATA229568356-
NM_001100.4(ACTA1):c.391G>A (p.Val131Met)58ACTA1Uncertain significancers1273559032RCV001064542; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568366229568366CT1:g.229568366C>T-
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser)58ACTA1Uncertain significancers766934634RCV000549874|RCV002221241; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0100084,MedGen:CN2952791229568368229568368TC1:g.229568368T>CClinGen:CA1442889C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser)58ACTA1Pathogenicrs121909520RCV000019942|RCV001090700; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568407229568407TC1:g.229568407T>CClinGen:CA258132,UniProtKB:P68133#VAR_011682,OMIM:102610.0002C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.350del (p.Asn117fs)58ACTA1Likely pathogenicrs1659975666RCV001330280; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568407229568407GTG229568406-
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val)58ACTA1Likely pathogenicrs1659975747RCV001251237; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568410229568410GA1:g.229568410G>A-
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser)58ACTA1Uncertain significancers1659975786RCV001346116; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568411229568411CA229568411-
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr)58ACTA1Likely pathogenic-1RCV002007888; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568411229568411CT229568411-
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile)58ACTA1Uncertain significancers146508471RCV001337326|RCV001751657; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568423229568423GT229568423-
NM_001100.4(ACTA1):c.324C>A (p.Thr108=)58ACTA1Likely benignrs41271479RCV000875689; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568433229568433GT1:g.229568433G>T-
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile)58ACTA1Uncertain significancers1659976518RCV001216162; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568434229568434GA1:g.229568434G>A-
NM_001100.4(ACTA1):c.312C>G (p.Pro104=)58ACTA1Likely benign-1RCV001486787; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568445229568445GC229568445-
NM_001100.4(ACTA1):c.300C>G (p.Pro100=)58ACTA1Likely benignrs1571893786RCV000983405; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568457229568457GC1:g.229568457G>C-
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro)58ACTA1Likely pathogenicrs121909519RCV000019941|RCV001731311; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|1229568470229568470AG1:g.229568470A>GClinGen:CA258130,UniProtKB:P68133#VAR_011681,OMIM:102610.0001C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val)58ACTA1Likely pathogenic-1RCV002050787; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568471229568471GC229568471-
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys)58ACTA1Uncertain significancers1571893814RCV000810437; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568474229568474CT1:g.229568474C>T-
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys)58ACTA1Pathogenicrs772124885RCV001219454; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568475229568475GT1:g.229568475G>T-
NM_001100.4(ACTA1):c.282C>T (p.Asn94=)58ACTA1Likely benign-1RCV001403313; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568475229568475GA229568475-
NM_001100.4(ACTA1):c.275_277del (p.Phe92del)58ACTA1Pathogenicrs1558082053RCV000691025; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568480229568482TAGAT1:g.229568480_229568482del-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.246T>C (p.Asp82=)58ACTA1Conflicting interpretations of pathogenicityrs373785144RCV000192725|RCV000886048; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568511229568511AG1:g.229568511A>GClinGen:CA205739CN169374 not specified;
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile)58ACTA1Pathogenicrs1659978452RCV001211040; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568521229568521GA1:g.229568521G>A-
NM_001100.4(ACTA1):c.217dup (p.Ile73fs)58ACTA1Pathogenic/Likely pathogenicrs1571893878RCV001008592|RCV001038401; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568539229568540AAT1:g.229568539_229568540insT-
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg)58ACTA1Likely pathogenicrs1659978909RCV001251238; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568542229568542GC1:g.229568542G>C-
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg)58ACTA1Pathogenicrs1571893885RCV000986567; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568548229568548TC1:g.229568548T>C-
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn)58ACTA1Likely pathogenicrs1553255502RCV000560713; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568560229568560AT1:g.229568560A>TClinGen:CA345150726C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser)58ACTA1Uncertain significancers1553255502RCV001218151; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568560229568560AC1:g.229568560A>C-
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile)58ACTA1Uncertain significance-1RCV002001528; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568566229568566CA229568566-
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter)58ACTA1Pathogenic-1RCV001388407; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568576229568576GA229568576-
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn)58ACTA1Likely pathogenicrs1085308014RCV000489996|RCV000794669; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568585229568585CT1:g.229568585C>TClinGen:CA345150874CN517202 not provided;
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg)58ACTA1Pathogenic-1RCV001949383; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568588229568588CG229568588-
NM_001100.4(ACTA1):c.168G>A (p.Val56=)58ACTA1Uncertain significancers765413340RCV000687147; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568589229568589CTNC_000001.10:g.229568589C>T-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs)58ACTA1Pathogenic-1RCV001380871; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568599229568602ATCTTA229568598-
NM_001100.4(ACTA1):c.153G>C (p.Gln51His)58ACTA1Uncertain significance-1RCV002047054; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568604229568604CG229568604-
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys)58ACTA1Uncertain significancers1558082103RCV000706309; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568609229568609CANC_000001.10:g.229568609C>A-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg)58ACTA1Pathogenicrs1553255506RCV000639669; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568611229568611AC1:g.229568611A>CClinGen:CA345151010C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp)58ACTA1Pathogenicrs367543049RCV000034933|RCV000807360; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568614229568614CT1:g.229568614C>TClinGen:CA344554C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val)58ACTA1Pathogenicrs367543049RCV001045609; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568614229568614CA1:g.229568614C>A-
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser)58ACTA1Pathogenic/Likely pathogenicrs794727488RCV000498534|RCV000550450; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568615229568615CT1:g.229568615C>TClinGen:CA243213C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg)58ACTA1Likely pathogenic-1RCV001973415; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568615229568615CG229568615-
NM_001100.4(ACTA1):c.141C>A (p.Val47=)58ACTA1Likely benignrs535751046RCV000916775|RCV001484702; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568616229568616GT1:g.229568616G>T-
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe)58ACTA1Pathogenic/Likely pathogenicrs398123562RCV000595451|RCV000790786; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568624229568624CA1:g.229568624C>AClinGen:CA221483,UniProtKB:P68133#VAR_062430C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile)58ACTA1Uncertain significancers398123562RCV001068492; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568624229568624CT1:g.229568624C>T-
NM_001100.4(ACTA1):c.132C>T (p.Gly44=)58ACTA1Conflicting interpretations of pathogenicityrs146956806RCV000116219|RCV000639671|RCV001098142|RCV001098143; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229568625229568625GANC_000001.10:g.229568625G>AClinGen:CA151565C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val)58ACTA1Uncertain significance-1RCV001909019; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568626229568626CA229568626-
NM_001100.4(ACTA1):c.130-5_130-4inv58ACTA1Likely benign-1RCV002105860; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568631229568632CATG229568631-
NM_001100.4(ACTA1):c.130-5T>C58ACTA1Benignrs11803533RCV000079463|RCV000298165|RCV000371171|RCV000403596|RCV001668192; NMedGen:CN169374|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MedGen:CN5172021229568632229568632AG1:g.229568632A>GClinGen:CA147046CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.130-9G>T58ACTA1Likely benignrs1553255511RCV000557380|RCV001503628; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568636229568636CA1:g.229568636C>AClinGen:CA658656990C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.130-10G>C58ACTA1Benignrs41271481RCV000079462|RCV000263026|RCV000317953|RCV000353173|RCV001650906; NMedGen:CN169374|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MedGen:CN5172021229568637229568637CG1:g.229568637C>GClinGen:CA147045CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.130-11C>G58ACTA1Likely benign-1RCV002116906; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568638229568638GC229568638-
NM_001100.4(ACTA1):c.130-20G>T58ACTA1Benign-1RCV002118508; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568647229568647CA229568647-
NM_001100.4(ACTA1):c.129+20G>C58ACTA1Likely benign-1RCV002116918; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568714229568714CG229568714-
NM_001100.4(ACTA1):c.129+16C>T58ACTA1Benignrs148084911RCV000437648|RCV002058994; NMedGen:CN169374|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568718229568718GA1:g.229568718G>AClinGen:CA1442929CN169374 not specified;
NM_001100.4(ACTA1):c.129+14T>C58ACTA1Uncertain significancers886046076RCV000264141|RCV000323941|RCV000358727; NMONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568720229568720AGNC_000001.10:g.229568720A>GClinGen:CA10610294CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg)58ACTA1Pathogenicrs1659984269RCV001047781; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568735229568735TC1:g.229568735T>C-
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr)58ACTA1Pathogenic-1RCV002000054; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568739229568739GA229568739-
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly)58ACTA1Uncertain significancers1429699993RCV000810085; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568742229568742GC1:g.229568742G>C-
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg)58ACTA1Uncertain significancers1659984455RCV001226687; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568744229568744GC1:g.229568744G>C-
NM_001100.4(ACTA1):c.117C>T (p.Arg39=)58ACTA1Likely benignrs369113039RCV000946120; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568746229568746GA1:g.229568746G>A-
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp)58ACTA1Uncertain significance-1RCV001363241; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568750229568750CT229568750-
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu)58ACTA1Pathogenicrs1553255521RCV000558312; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568754229568754CA1:g.229568754C>AClinGen:CA345151305C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu)58ACTA1Pathogenicrs1553255521RCV000792251|RCV001090702; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568754229568754CG1:g.229568754C>G-
NM_001100.4(ACTA1):c.108C>T (p.Ile36=)58ACTA1Conflicting interpretations of pathogenicityrs143948837RCV000289010|RCV000325221|RCV000378765; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:20201229568755229568755GANC_000001.10:g.229568755G>AClinGen:CA1442937CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys)58ACTA1Uncertain significance-1RCV001961065; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568759229568759GC229568759-
NM_001100.4(ACTA1):c.102G>T (p.Pro34=)58ACTA1Likely benign-1RCV001408014; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568761229568761CA229568761-
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs)58ACTA1Pathogenicrs753923758RCV000543743; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568778229568779GGA1:g.229568778_229568779insAClinGen:CA1442940C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys)58ACTA1Uncertain significance-1RCV001899087; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568780229568781GCCA229568780-
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro)58ACTA1Uncertain significancers546670743RCV000679904; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568781229568781CG1:g.229568781C>G-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser)58ACTA1Uncertain significance-1RCV001964942; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568781229568781CA229568781-
NM_001100.4(ACTA1):c.81C>T (p.Asp27=)58ACTA1Uncertain significancers1553255533RCV001101923|RCV001101922|RCV001101924; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:2176351229568782229568782GA1:g.229568782G>A-
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly)58ACTA1Uncertain significancers1553255534RCV000537060; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568783229568783TC1:g.229568783T>CClinGen:CA345151460C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn)58ACTA1Uncertain significancers1659986226RCV001232038; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568803229568803TG1:g.229568803T>G-
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser)58ACTA1Pathogenicrs121909521RCV001223742; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568814229568814CT1:g.229568814C>T-
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr)58ACTA1Uncertain significance-1RCV002030504; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568823229568823TA229568823-
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu)58ACTA1Conflicting interpretations of pathogenicityrs1659986880RCV001223007|RCV001587247; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN5172021229568824229568824GT1:g.229568824G>T-
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn)58ACTA1Conflicting interpretations of pathogenicityrs1571894217RCV000796330|RCV001000752; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MedGen:CN1693741229568826229568826CT1:g.229568826C>T-
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter)58ACTA1Pathogenicrs1025502215RCV000699186; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568827229568827GTNC_000001.10:g.229568827G>T-C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.24C>A (p.Thr8=)58ACTA1Likely benignrs762659680RCV000534919|RCV001427384; NMedGen:CN517202|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:1618001229568839229568839GT1:g.229568839G>TClinGen:CA1442948C3711389 161800 Nemaline myopathy 3;
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys)58ACTA1Pathogenic/Likely pathogenicrs367543048RCV000034934|RCV000693406|RCV001198948; NMONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0014800,MedGen:C4225181,OMIM:616852, Orphanet:4479771229568847229568847CT1:g.229568847C>TClinGen:CA344557C0546264 255310 Congenital myopathy with fiber type disproportion;
NM_001100.4(ACTA1):c.-65T>C58ACTA1Benignrs605430RCV000290269|RCV000349853|RCV000384487|RCV001651342; NMONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MedGen:CN5172021229569803229569803AGNC_000001.10:g.229569803A>GClinGen:CA10610295CN235628 Congenital fiber-type disproportion;
NM_001100.4(ACTA1):c.-66C>T58ACTA1Benignrs605428RCV000300855|RCV000355646|RCV000393746|RCV001612924; NMONDO:MONDO:0016340,MedGen:C0340429,OMIM:PS115210, Orphanet:217635|MONDO:MONDO:0008070,MedGen:C3711389,OMIM:161800|MONDO:MONDO:0009711,MedGen:C0546264,OMIM:255310, Orphanet:2020|MedGen:CN5172021229569804229569804GANC_000001.10:g.229569804G>AClinGen:CA10609269CN235628 Congenital fiber-type disproportion;
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