NEM3
MCID: NML004
MIFTS: 47

Nemaline Myopathy 3 (NEM3)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Nemaline Myopathy 3

MalaCards integrated aliases for Nemaline Myopathy 3:

Name: Nemaline Myopathy 3 57 11 42 73 14 71
Nemaline Myopathy 3, Autosomal Dominant or Recessive 57 11 28 5
Congenital Myopathy with Excess of Thin Filaments 42 58 28 5
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 57 73 12
Myopathy, Actin, Congenital, with Cores 57 28 5
Nem3 57 11 73
Actin-Accumulation Myopathy 42 71
Actin Accumulation Myopathy 28 5
Actin Myopathy 42 58
Nemaline Myopathy 3 with Intranuclear Rods 73
Actin Myopathy Congenital with Cores 73
Actin Filament Aggregate Myopathy 42
Acta1-Related Nemaline Myopathy 73
Myopathy, Nemaline, Type 3 38
Nemaline Myopathy, Type 3 75
Mpcetm 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity
highly variable phenotype
slowly or nonprogressive
death in childhood often results from respiratory insufficiency
onset usually in childhood (infancy to teens)
rare adult onset


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Nemaline Myopathy 3

OMIM®: 57 Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001). Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see 255310), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). (161800) (Updated 08-Dec-2022)

MalaCards based summary: Nemaline Myopathy 3, also known as nemaline myopathy 3, autosomal dominant or recessive, is related to van der woude syndrome and nemaline myopathy 2, and has symptoms including waddling gait, generalized muscle weakness and facial paresis. An important gene associated with Nemaline Myopathy 3 is ACTA1 (Actin Alpha 1, Skeletal Muscle), and among its related pathways/superpathways is DNA repair pathways, full network. Affiliated tissues include skeletal muscle, and related phenotypes are hyperreflexia and dilated cardiomyopathy

MedlinePlus Genetics: 42 Actin-accumulation myopathy is a disorder that primarily affects skeletal muscles, which are muscles that the body uses for movement. People with actin-accumulation myopathy have severe muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body. Signs and symptoms of this condition are apparent in infancy and include feeding and swallowing difficulties, a weak cry, and difficulty with controlling head movements. Affected babies are sometimes described as "floppy" and may be unable to move on their own.The severe muscle weakness that occurs in actin-accumulation myopathy also affects the muscles used for breathing. Individuals with this disorder may take shallow breaths (hypoventilate), especially during sleep, resulting in a shortage of oxygen and a buildup of carbon dioxide in the blood. Frequent respiratory infections and life-threatening breathing difficulties can occur. Because of the respiratory problems, most affected individuals do not survive past infancy. Those who do survive have delayed development of motor skills such as sitting, crawling, standing, and walking.The name actin-accumulation myopathy derives from characteristic accumulations in muscle cells of filaments composed of a protein called actin. These filaments can be seen when muscle tissue is viewed under a microscope.

Orphanet: 58 A rare, genetic, congenital myopathy disorder characterized by variable degrees of muscular weakness, frequently associated with severe nemaline myopathy-like disease (including neonatal hypotonia, lack of spontaneous movements, feeding and swallowing difficulties, frequent respiratory infections, respiratory insufficiency, early death), and histopathologic findings of large, densely packed, subsarcolemmal accumulations of thin, actin-immunopositive filaments (with or without intranuclear nemaline rods) on muscle biopsy.

UniProtKB/Swiss-Prot 73 Nemaline myopathy 3: A form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination.

Myopathy, actin, congenital, with excess of thin myofilaments: A congenital muscular disorder characterized at histological level by areas of sarcoplasm devoid of normal myofibrils and mitochondria, and replaced with dense masses of thin filaments. Central cores, rods, ragged red fibers, and necrosis are absent.

Disease Ontology: 11 A nemaline myopathy that has material basis in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42.

Wikipedia: 75 Nemaline myopathy (also called rod myopathy or nemaline rod myopathy) is a congenital, often hereditary... more...

Related Diseases for Nemaline Myopathy 3

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

Diseases related to Nemaline Myopathy 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 55, show less)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 11.7
2 nemaline myopathy 2 11.0
3 nemaline myopathy 8 11.0
4 nemaline myopathy 10 11.0
5 nemaline myopathy 11, autosomal recessive 11.0
6 mismatch repair cancer syndrome 10.0 POLE EXO1
7 nemaline myopathy 10.0
8 myopathy 10.0
9 hydrops of gallbladder 10.0 ALB ACTA1
10 cowpox 9.9 TNFRSF1A KLHL2
11 dipetalonemiasis 9.9 MT-CO1 ALB
12 capillariasis 9.9 MT-CO1 ALB
13 chronic congestive splenomegaly 9.9 MT-CO1 ALB
14 chronic meningitis 9.9 MT-CO1 ALB
15 meningovascular neurosyphilis 9.9 MT-CO1 ALB
16 tick infestation 9.9 MT-CO1 ALB
17 taeniasis 9.9 MT-CO1 ALB
18 babesiosis 9.9 MT-CO1 ALB
19 parasitic ectoparasitic infectious disease 9.9 MT-CO1 ALB
20 fascioliasis 9.9 MT-CO1 ALB
21 myelitis 9.9 TNFRSF1A MOG
22 endosteal hyperostosis, autosomal dominant 9.8
23 cardiomyopathy, familial hypertrophic, 1 9.8
24 cryptorchidism, unilateral or bilateral 9.8
25 batten-turner congenital myopathy 9.8
26 respiratory failure 9.8
27 hypertrophic cardiomyopathy 9.8
28 dilated cardiomyopathy 9.8
29 intranuclear rod myopathy 9.8
30 hypotonia 9.8
31 cardiac tamponade 9.8 TNFRSF1A ALB
32 epidemic typhus 9.8 MT-CO1 ALB
33 hypersensitivity reaction type iv disease 9.8 MT-CO1 ALB
34 polyradiculoneuropathy 9.8 TNFRSF1A ALB
35 filariasis 9.8 MT-CO1 ALB
36 cranial nerve palsy 9.8 MOG ALB
37 miller fisher syndrome 9.8 MOG ALB
38 facial nerve disease 9.8 MOG ALB
39 parasitic helminthiasis infectious disease 9.8 MT-CO1 ALB
40 papilledema 9.8 MOG ALB
41 facial paralysis 9.8 MOG ALB
42 pericardial effusion 9.7 TNFRSF1A ALB
43 chickenpox 9.7 MOG ALB
44 aseptic meningitis 9.7 MOG ALB
45 autoimmune disease of peripheral nervous system 9.7 MOG ALB
46 demyelinating polyneuropathy 9.7 MOG ALB
47 west nile encephalitis 9.7 MOG ALB
48 xeroderma pigmentosum, variant type 9.7 TENT4A POLM EXO1
49 parasitic protozoa infectious disease 9.7 MT-CO1 KLHL2 ALB
50 meningoencephalitis 9.6 MOG ALB
51 optic nerve disease 9.6 MT-CO1 MOG ALB
52 typhoid fever 9.6 TNFRSF1A ALB
53 guillain-barre syndrome 9.5 TNFRSF1A MOG ALB
54 behcet syndrome 9.5 TNFRSF1A MOG ALB
55 sleep disorder 9.4 MOG ALB

Graphical network of the top 20 diseases related to Nemaline Myopathy 3:



Diseases related to Nemaline Myopathy 3

Symptoms & Phenotypes for Nemaline Myopathy 3

Human phenotypes related to Nemaline Myopathy 3:

30 (showing 36, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 30 Occasional (7.5%) HP:0001347
2 dilated cardiomyopathy 30 Occasional (7.5%) HP:0001644
3 rigidity 30 Occasional (7.5%) HP:0002063
4 scoliosis 30 HP:0002650
5 dysphagia 30 HP:0002015
6 facial palsy 30 HP:0010628
7 high palate 30 HP:0000218
8 hyperlordosis 30 HP:0003307
9 neonatal hypotonia 30 HP:0001319
10 feeding difficulties in infancy 30 HP:0008872
11 retrognathia 30 HP:0000278
12 mask-like facies 30 HP:0000298
13 waddling gait 30 HP:0002515
14 spinal rigidity 30 HP:0003306
15 emg: myopathic abnormalities 30 HP:0003458
16 respiratory insufficiency due to muscle weakness 30 HP:0002747
17 motor delay 30 HP:0001270
18 type 1 muscle fiber predominance 30 HP:0003803
19 nemaline bodies 30 HP:0003798
20 slender build 30 HP:0001533
21 polyhydramnios 30 HP:0001561
22 areflexia 30 HP:0001284
23 decreased fetal movement 30 HP:0001558
24 pes cavus 30 HP:0001761
25 hyporeflexia 30 HP:0001265
26 arthrogryposis multiplex congenita 30 HP:0002804
27 limb muscle weakness 30 HP:0003690
28 myopathic facies 30 HP:0002058
29 generalized muscle weakness 30 HP:0003324
30 proximal muscle weakness 30 HP:0003701
31 frequent falls 30 HP:0002359
32 mildly elevated creatine kinase 30 HP:0008180
33 bulbar palsy 30 HP:0001283
34 emg: neuropathic changes 30 HP:0003445
35 neck flexor weakness 30 HP:0003722
36 late-onset distal muscle weakness 30 HP:0003810

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Abdomen Gastrointestinal:
dysphagia
poor feeding due to muscle weakness

Head And Neck Face:
retrognathia
myopathic facies
facial muscle weakness
elongated face
expressionless face

Muscle Soft Tissue:
type 1 muscle fiber predominance
neck muscle weakness
frequent falls
facial muscle weakness
distal limb muscle weakness occurs later
more
Neurologic Central Nervous System:
areflexia
hyporeflexia
delayed motor development
severe form may never achieve sitting or walking
absent gag reflex
more
Head And Neck Mouth:
high-arched palate
tent-shaped mouth

Head And Neck Eyes:
extraocular muscles are not involved

Cardiovascular Heart:
dilated cardiomyopathy (rare)

Prenatal Manifestations Movement:
decreased fetal movement (severe form)

Laboratory Abnormalities:
normal or mildly increased serum creatine kinase

Skeletal Spine:
hyperlordosis
scoliosis (onset around puberty)
rigid spine

Respiratory:
respiratory insufficiency due to muscle weakness

Growth Other:
slender build

Skeletal Feet:
pes cavus

Skeletal:
joint contractures
joint deformities (may develop over time)
arthrogryposis (severe form)

Head And Neck Neck:
neck flexor muscle weakness

Neurologic Peripheral Nervous System:
hyperreflexia (uncommon)

Prenatal Manifestations Amniotic Fluid:
polyhydramnios (severe form)

Clinical features from OMIM®:

161800 (Updated 08-Dec-2022)

UMLS symptoms related to Nemaline Myopathy 3:


waddling gait; generalized muscle weakness; facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 3:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 ACTA1 ALB MOG MT-CO1 TNFRSF1A

Drugs & Therapeutics for Nemaline Myopathy 3

Search Clinical Trials, NIH Clinical Center for Nemaline Myopathy 3

Genetic Tests for Nemaline Myopathy 3

Genetic tests related to Nemaline Myopathy 3:

# Genetic test Affiliating Genes
1 Actin Accumulation Myopathy 28 ACTA1
2 Myopathy, Actin, Congenital, with Cores 28
3 Congenital Myopathy with Excess of Thin Filaments 28
4 Nemaline Myopathy 3, Autosomal Dominant or Recessive 28

Anatomical Context for Nemaline Myopathy 3

Organs/tissues related to Nemaline Myopathy 3:

MalaCards : Skeletal Muscle
ODiseA: Skeletal Muscle

Publications for Nemaline Myopathy 3

Articles related to Nemaline Myopathy 3:

(showing 93, show less)
# Title Authors PMID Year
1
Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. 62 57 5
10508519 1999
2
Congenital myopathy with excess of thin myofilaments. 62 57 5
9185179 1997
3
Nemaline myopathy with dilated cardiomyopathy in childhood. 57 5
23650303 2013
4
Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation. 57 5
22442437 2012
5
Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. 57 5
19553116 2009
6
Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred. 57 5
16427282 2006
7
Missense mutations of ACTA1 cause dominant congenital myopathy with cores. 57 5
15520409 2004
8
Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene. 57 5
11333380 2001
9
Prevalence and phenotypes of congenital myopathy due to Ī±-actin 1 gene mutations. 62 5
26172852 2016
10
Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). 62 5
19562689 2009
11
Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). 62 5
12921789 2003
12
Asymmetric muscle weakness due to ACTA1 mosaic mutations. 5
32989108 2020
13
Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1. 5
30732915 2019
14
Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service. 5
31127727 2019
15
Phenotypes, genotypes, and prevalence of congenital myopathies older than 5 years in Denmark. 5
28357410 2017
16
Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic. 5
27447704 2017
17
Early-Onset Myopathies: Clinical Findings, Prevalence of Subgroups and Diagnostic Approach in a Single Neuromuscular Referral Center in Germany. 5
29172004 2017
18
Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy. 57
27242277 2016
19
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 5
27854218 2016
20
Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family. 5
25938801 2015
21
Zebra body myopathy is caused by a mutation in the skeletal muscle actin gene (ACTA1). 5
25747004 2015
22
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. 5
25635128 2015
23
Congenital fiber type disproportion myopathy caused by LMNA mutations. 5
24642510 2014
24
A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations. 5
23305948 2013
25
Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. 5
17705262 2007
26
Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. 57
16917880 2006
27
Canine and feline models of human inherited muscle diseases. 57
15694134 2005
28
Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. 57
15198992 2004
29
Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. 5
15236405 2004
30
Myopathy mutations in alpha-skeletal-muscle actin cause a range of molecular defects. 5
15226407 2004
31
Functional characterisation of a mutant actin (Met132Val) from a patient with nemaline myopathy. 5
14733965 2004
32
Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22-24 September 2000, Naarden, The Netherlands. 5
11525890 2001
33
Nemaline myopathy: a clinical study of 143 cases. 57
11558787 2001
34
Clinical and genetic heterogeneity in nemaline myopathy--a disease of skeletal muscle thin filaments. 57
11516997 2001
35
Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. 57
10619714 1999
36
Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. 57
9321754 1997
37
Nemaline myopathy in the neonate: two case reports. 57
8789770 1996
38
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy. 57
7767098 1995
39
Adult onset of nemaline myopathy presenting as respiratory insufficiency. 57
8552868 1995
40
Two siblings with nemaline myopathy presenting with rigid spine syndrome. 57
7919974 1994
41
Exclusion of two candidate loci for autosomal recessive nemaline myopathy. 57
8151647 1994
42
Intranuclear rods in severe congenital nemaline myopathy. 57
8232959 1993
43
Genetics of congenital nemaline myopathy: a study of 10 families. 57
2213842 1990
44
Alpha-actinin and myosin light chains in congenital nemaline myopathy. 57
2360957 1990
45
Congenital nemaline myopathy. A clinical follow-up of twelve patients. 57
2926439 1989
46
Pathology of congenital nemaline myopathy. A follow-up study. 57
3356991 1988
47
Early fatal nemaline myopathy: case report and review. 57
2826279 1987
48
Adult onset of nemaline myopathy presenting as diaphragmatic paralysis. 57
3819745 1987
49
Nemaline cardiomyopathy. 57
3728322 1986
50
Nemaline myopathy as a cause of sleep hypoventilation. 57
3081871 1986
51
Fatal nemaline myopathy in infancy. 57
6733612 1984
52
Nemaline myopathy appearing in adults as cardiomyopathy. A clinicopathologic study. 57
6703949 1984
53
Nemaline myopathy presenting as cardiomyopathy. 57
6855830 1983
54
Congenital nemaline myopathy. I. Defective organization of alpha-actinin is restricted to muscle. 57
6302502 1983
55
Congenital nemaline myopathy. II. Quantitative changes in alpha-actinin and myosin in skeletal muscle. 57
6302503 1983
56
Familial nemaline myopathy. 57
6296713 1982
57
Nemaline myopathy and a mitochondrial neuromuscular disorder in one family. 57
6267500 1981
58
Genetics of congenital nemaline myopathy. 57
6997732 1980
59
Immunofluorescence microscopy of a myopathy. alpha-Actinin is a major constituent of nemaline rods. 57
6991264 1980
60
Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia. 57
581546 1979
61
Investigations on the inheritance of nemaline myopathy. 57
623532 1978
62
Nemaline myopathy. A family study with three autopsied cases. 57
4124693 1973
63
Rod myopathy: beta globulin peak and increased complement. 57
4121348 1973
64
New congenital myopathy with crystalline intranuclear inclusions. 57
5766493 1969
65
Skeletal muscle. Basic and clinical aspects and illustrative new diseases. 57
5342815 1967
66
Nemaline myopathy. A long-term clinicopathologic study of affected mother and daughter. 57
5939042 1966
67
Nemaline myopathy. The origin of nemaline structures. 57
5908457 1966
68
New evidence for excessive accumulation of Z-band material in nemaline myopathy. 57
5218258 1965
69
HEREDITARY OCCURRENCE OF NEMALINE MYOPATHY. 57
14315666 1965
70
CONGENITAL NONPROGRESSIVE MYOPATHY. CENTRAL CORE DISEASE AND NEMALINE MYOPATHY IN ONE FAMILY. 57
14280602 1965
71
NEMALINE MYOPATHY; A SECOND CASE. 57
14147679 1964
72
NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY. 57
14090530 1963
73
LIGHT AND ELECTRON MICROSCOPIC STUDIES OF "MYOGRANULES" IN A CHILD WITH HYPOTONIA AND MUSCLE WEAKNESS. 57
14076166 1963
74
Comparison of incorporation of wild type and mutated actins into sarcomeres in skeletal muscle cells: A fluorescence recovery after photobleaching study. 62
36085566 2022
75
Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. 62
35810298 2022
76
RET gene mutational diagnosis and precision medicine in Mexico. 62
35894740 2022
77
Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3). 62
29328520 2018
78
Genetic compensation triggered by actin mutation prevents the muscle damage caused by loss of actin protein. 62
29420541 2018
79
Clinical and HistologicĀ Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature. 62
28780987 2017
80
Modulating myosin restores muscle function in a mouse model of nemaline myopathy. 62
26891371 2016
81
Severe congenital actin related myopathy with myofibrillar myopathy features. 62
25913210 2015
82
[Congenital myopathies - skeletal muscle diseases related to disorder of actin filament structure and functions]. 62
21677359 2011
83
Fetal akinesia caused by a novel actin filament aggregate myopathy skeletal muscle actin gene (ACTA1) mutation. 62
20621480 2010
84
Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification. 62
19553121 2009
85
Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies. 62
18976909 2009
86
Thin filament proteins mutations associated with skeletal myopathies: defective regulation of muscle contraction. 62
18574571 2008
87
Skeletal muscle alpha-actin diseases. 62
19181090 2008
88
Congenital myopathies in Israeli families. 62
17641259 2007
89
Congenital myopathies: diseases of the actin cytoskeleton. 62
15495263 2004
90
Specificity of association between Paenibacillus spp. and the entomopathogenic nematodes, Heterorhabditis spp. 62
15692861 2004
91
Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn). 62
15221331 2004
92
Cardiac and skeletal myopathies: can genotype explain phenotype? 62
11563546 2001
93
Immunoreactivity of antibodies raised against synthetic peptide fragments predicted from mid portions of dystrophin cDNA. 62
2205709 1990

Variations for Nemaline Myopathy 3

ClinVar genetic disease variations for Nemaline Myopathy 3:

5 (showing 274, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ACTA1 NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) SNV Pathogenic
128261 rs587780272 GRCh37: 1:229568118-229568118
GRCh38: 1:229432371-229432371
2 ACTA1 NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) SNV Pathogenic
434074 rs1553255362 GRCh37: 1:229567649-229567649
GRCh38: 1:229431902-229431902
3 ACTA1 NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) SNV Pathogenic
18279 rs121909519 GRCh37: 1:229568470-229568470
GRCh38: 1:229432723-229432723
4 ACTA1 NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) SNV Pathogenic
18282 rs121909522 GRCh37: 1:229568140-229568140
GRCh38: 1:229432393-229432393
5 ACTA1 NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) SNV Pathogenic
18283 rs121909523 GRCh37: 1:229567767-229567767
GRCh38: 1:229432020-229432020
6 ACTA1 NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu) SNV Pathogenic
18284 rs121909524 GRCh37: 1:229567305-229567305
GRCh38: 1:229431558-229431558
7 ACTA1 NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) SNV Pathogenic
18285 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
8 ACTA1 NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) SNV Pathogenic
18286 rs121909526 GRCh37: 1:229568343-229568343
GRCh38: 1:229432596-229432596
9 ACTA1 NM_001100.4(ACTA1):c.493G>A (p.Val165Met) SNV Pathogenic
18292 rs121909522 GRCh37: 1:229568140-229568140
GRCh38: 1:229432393-229432393
10 ACTA1 NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn) SNV Pathogenic
50318 rs398122936 GRCh37: 1:229567474-229567474
GRCh38: 1:229431727-229431727
11 ACTA1 NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) SNV Pathogenic
18281 rs121909521 GRCh37: 1:229568814-229568814
GRCh38: 1:229433067-229433067
12 ACTA1 NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) SNV Pathogenic
18287 rs121909527 GRCh37: 1:229568856-229568856
GRCh38: 1:229433109-229433109
13 ACTA1 NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) SNV Pathogenic
18288 rs121909528 GRCh37: 1:229567373-229567373
GRCh38: 1:229431626-229431626
14 ACTA1 NM_001100.4(ACTA1):c.616+1G>A SNV Pathogenic
464128 rs111812550 GRCh37: 1:229568016-229568016
GRCh38: 1:229432269-229432269
15 ACTA1 NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys) SNV Pathogenic
464125 rs1064794287 GRCh37: 1:229568080-229568080
GRCh38: 1:229432333-229432333
16 ACTA1 NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs) INSERT Pathogenic
464132 rs753923758 GRCh37: 1:229568778-229568779
GRCh38: 1:229433031-229433032
17 ACTA1 NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter) SNV Pathogenic
464130 rs201823652 GRCh37: 1:229567889-229567889
GRCh38: 1:229432142-229432142
18 ACTA1 NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) SNV Pathogenic
196311 rs794727488 GRCh37: 1:229568615-229568615
GRCh38: 1:229432868-229432868
19 ACTA1 NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn) SNV Pathogenic
464126 rs1553255432 GRCh37: 1:229568035-229568035
GRCh38: 1:229432288-229432288
20 ACTA1 NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) SNV Pathogenic
464114 rs1553255521 GRCh37: 1:229568754-229568754
GRCh38: 1:229433007-229433007
21 ACTA1 NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) SNV Pathogenic
228243 rs121909525 GRCh37: 1:229567741-229567741
GRCh38: 1:229431994-229431994
22 ACTA1 NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln) SNV Pathogenic
532768 rs1553255288 GRCh37: 1:229567248-229567248
GRCh38: 1:229431501-229431501
23 ACTA1 NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser) SNV Pathogenic
532769 rs1553255479 GRCh37: 1:229568308-229568308
GRCh38: 1:229432561-229432561
24 ACTA1 NM_001100.4(ACTA1):c.461T>C (p.Val154Ala) SNV Pathogenic
532771 rs1553255446 GRCh37: 1:229568172-229568172
GRCh38: 1:229432425-229432425
25 ACTA1 NM_001100.4(ACTA1):c.146T>G (p.Met49Arg) SNV Pathogenic
532772 rs1553255506 GRCh37: 1:229568611-229568611
GRCh38: 1:229432864-229432864
26 ACTA1 NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly) SNV Pathogenic
565462 rs1435160117 GRCh37: 1:229568338-229568338
GRCh38: 1:229432591-229432591
27 ACTA1 NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter) SNV Pathogenic
576643 rs1025502215 GRCh37: 1:229568827-229568827
GRCh38: 1:229433080-229433080
28 ACTA1 NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser) SNV Pathogenic
577383 rs1558081605 GRCh37: 1:229567746-229567746
GRCh38: 1:229431999-229431999
29 ACTA1 NM_001100.4(ACTA1):c.275_277del (p.Phe92del) DEL Pathogenic
570214 rs1558082053 GRCh37: 1:229568480-229568482
GRCh38: 1:229432733-229432735
30 ACTA1 NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) SNV Pathogenic
42107 rs367543048 GRCh37: 1:229568847-229568847
GRCh38: 1:229433100-229433100
31 ACTA1 NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly) SNV Pathogenic
644740 rs1571893319 GRCh37: 1:229568076-229568076
GRCh38: 1:229432329-229432329
32 ACTA1 NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr) SNV Pathogenic
381641 rs1057521119 GRCh37: 1:229568017-229568017
GRCh38: 1:229432270-229432270
33 ACTA1 NM_001100.4(ACTA1):c.617C>T (p.Ala206Val) SNV Pathogenic
650485 rs1571893145 GRCh37: 1:229567932-229567932
GRCh38: 1:229432185-229432185
34 ACTA1 NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) SNV Pathogenic
42106 rs367543049 GRCh37: 1:229568614-229568614
GRCh38: 1:229432867-229432867
35 ACTA1 NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu) SNV Pathogenic
654415 rs1553255357 GRCh37: 1:229567637-229567637
GRCh38: 1:229431890-229431890
36 ACTA1 NM_001100.4(ACTA1):c.809-2A>T SNV Pathogenic
617580 rs1301902450 GRCh37: 1:229567651-229567651
GRCh38: 1:229431904-229431904
37 ACTA1 NM_001100.4(ACTA1):c.712del (p.Leu238fs) DEL Pathogenic
662552 rs1211561143 GRCh37: 1:229567837-229567837
GRCh38: 1:229432090-229432090
38 ACTA1 NM_001100.4(ACTA1):c.489C>A (p.His163Gln) SNV Pathogenic
692085 rs1571893383 GRCh37: 1:229568144-229568144
GRCh38: 1:229432397-229432397
39 ACTA1 NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) SNV Pathogenic
801632 rs1571893885 GRCh37: 1:229568548-229568548
GRCh38: 1:229432801-229432801
40 ACTA1 NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) SNV Pathogenic
807360 rs748592740 GRCh37: 1:229567811-229567811
GRCh38: 1:229432064-229432064
41 ACTA1 NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) SNV Pathogenic
18289 rs121909529 GRCh37: 1:229567577-229567577
GRCh38: 1:229431830-229431830
42 ACTA1 NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys) SNV Pathogenic
848617 rs1659944113 GRCh37: 1:229567616-229567616
GRCh38: 1:229431869-229431869
43 ACTA1 NM_001100.4(ACTA1):c.767G>A (p.Arg256His) SNV Pathogenic
836935 rs1659954003 GRCh37: 1:229567782-229567782
GRCh38: 1:229432035-229432035
44 ACTA1 NM_001100.4(ACTA1):c.217dup (p.Ile73fs) DUP Pathogenic
817462 rs1571893878 GRCh37: 1:229568539-229568540
GRCh38: 1:229432792-229432793
45 ACTA1 NM_001100.4(ACTA1):c.143G>T (p.Gly48Val) SNV Pathogenic
843072 rs367543049 GRCh37: 1:229568614-229568614
GRCh38: 1:229432867-229432867
46 ACTA1 NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) SNV Pathogenic
844831 rs1659984269 GRCh37: 1:229568735-229568735
GRCh38: 1:229432988-229432988
47 ACTA1 NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro) SNV Pathogenic
845550 rs1659973563 GRCh37: 1:229568330-229568330
GRCh38: 1:229432583-229432583
48 ACTA1 NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) SNV Pathogenic
941283 rs1659978452 GRCh37: 1:229568521-229568521
GRCh38: 1:229432774-229432774
49 ACTA1 NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser) SNV Pathogenic
951759 rs121909521 GRCh37: 1:229568814-229568814
GRCh38: 1:229433067-229433067
50 ACTA1 NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys) SNV Pathogenic
948238 rs772124885 GRCh37: 1:229568475-229568475
GRCh38: 1:229432728-229432728
51 ACTA1 NM_001100.4(ACTA1):c.868G>C (p.Asp290His) SNV Pathogenic
521371 rs1553255354 GRCh37: 1:229567590-229567590
GRCh38: 1:229431843-229431843
52 ACTA1 NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) SNV Pathogenic
870613 rs1553255486 GRCh37: 1:229568355-229568355
GRCh38: 1:229432608-229432608
53 ACTA1 NM_001100.4(ACTA1):c.400A>G (p.Met134Val) SNV Pathogenic
1031830 rs1659974377 GRCh37: 1:229568357-229568357
GRCh38: 1:229432610-229432610
54 ACTA1 NM_001100.4(ACTA1):c.155_158del (p.Lys52fs) DEL Pathogenic
1069121 GRCh37: 1:229568599-229568602
GRCh38: 1:229432852-229432855
55 ACTA1 NM_001100.4(ACTA1):c.541del (p.Asp181fs) DEL Pathogenic
420100 rs759242559 GRCh37: 1:229568092-229568092
GRCh38: 1:229432345-229432345
56 ACTA1 NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys) SNV Pathogenic
1072266 GRCh37: 1:229568034-229568034
GRCh38: 1:229432287-229432287
57 ACTA1 NM_001100.4(ACTA1):c.841T>C (p.Tyr281His) SNV Pathogenic
1073998 GRCh37: 1:229567617-229567617
GRCh38: 1:229431870-229431870
58 ACTA1 NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) SNV Pathogenic
432685 rs1553255357 GRCh37: 1:229567637-229567637
GRCh38: 1:229431890-229431890
59 ACTA1 NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter) SNV Pathogenic
1074947 GRCh37: 1:229568576-229568576
GRCh38: 1:229432829-229432829
60 ACTA1 NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr) SNV Pathogenic
1456499 GRCh37: 1:229567845-229567845
GRCh38: 1:229432098-229432098
61 ACTA1 NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg) SNV Pathogenic
1457959 GRCh37: 1:229568588-229568588
GRCh38: 1:229432841-229432841
62 ACTA1 NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu) SNV Pathogenic
1457948 GRCh37: 1:229567331-229567331
GRCh38: 1:229431584-229431584
63 ACTA1 NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys) SNV Pathogenic
1457951 GRCh37: 1:229567612-229567612
GRCh38: 1:229431865-229431865
64 ACTA1 NM_001100.4(ACTA1):c.436del (p.Ala146fs) DEL Pathogenic
1459640 GRCh37: 1:229568321-229568321
GRCh38: 1:229432574-229432574
65 ACTA1 NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) SNV Pathogenic
807361 rs1558081664 GRCh37: 1:229567867-229567867
GRCh38: 1:229432120-229432120
66 ACTA1 NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) SNV Pathogenic
224412 rs869312739 GRCh37: 1:229568042-229568042
GRCh38: 1:229432295-229432295
67 ACTA1 NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp) SNV Pathogenic
1452454 GRCh37: 1:229568124-229568124
GRCh38: 1:229432377-229432377
68 ACTA1 NM_001100.4(ACTA1):c.124C>T (p.His42Tyr) SNV Pathogenic
1452968 GRCh37: 1:229568739-229568739
GRCh38: 1:229432992-229432992
69 ACTA1 NM_001100.4(ACTA1):c.400del (p.Met134fs) DEL Pathogenic
1451534 GRCh37: 1:229568357-229568357
GRCh38: 1:229432610-229432610
70 ACTA1 NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) SNV Pathogenic
1685499 GRCh37: 1:229568398-229568398
GRCh38: 1:229432651-229432651
71 ACTA1 NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) SNV Pathogenic
18280 rs121909520 GRCh37: 1:229568407-229568407
GRCh38: 1:229432660-229432660
72 ACTA1 NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) SNV Pathogenic
Likely Pathogenic
381639 rs1057521117 GRCh37: 1:229567810-229567810
GRCh38: 1:229432063-229432063
73 ACTA1 NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) SNV Pathogenic
639455 rs1553255521 GRCh37: 1:229568754-229568754
GRCh38: 1:229433007-229433007
74 ACTA1 NM_001100.4(ACTA1):c.222G>T (p.Glu74Asp) SNV Pathogenic
18293 rs267606626 GRCh37: 1:229568535-229568535
GRCh38: 1:229432788-229432788
75 ACTA1 NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) SNV Pathogenic
93548 rs398123562 GRCh37: 1:229568624-229568624
GRCh38: 1:229432877-229432877
76 ACTA1 NM_001100.4(ACTA1):c.990+1G>T SNV Pathogenic/Likely Pathogenic
464139 rs372686280 GRCh37: 1:229567467-229567467
GRCh38: 1:229431720-229431720
77 ACTA1 NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) SNV Pathogenic/Likely Pathogenic
1333773 GRCh37: 1:229568338-229568338
GRCh38: 1:229432591-229432591
78 ACTA1 NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) SNV Pathogenic/Likely Pathogenic
801630 rs1571892196 GRCh37: 1:229567253-229567253
GRCh38: 1:229431506-229431506
79 ACTA1 NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) SNV Likely Pathogenic
801631 rs1057518493 GRCh37: 1:229567376-229567376
GRCh38: 1:229431629-229431629
80 ACTA1 NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser) SNV Likely Pathogenic
692083 rs1571892193 GRCh37: 1:229567250-229567250
GRCh38: 1:229431503-229431503
81 ACTA1 NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn) SNV Likely Pathogenic
427190 rs1085308014 GRCh37: 1:229568585-229568585
GRCh38: 1:229432838-229432838
82 ACTA1 NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys) SNV Likely Pathogenic
948691 rs1659962016 GRCh37: 1:229568041-229568041
GRCh38: 1:229432294-229432294
83 ACTA1 NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu) SNV Likely Pathogenic
951155 rs1659986880 GRCh37: 1:229568824-229568824
GRCh38: 1:229433077-229433077
84 ACTA1 NM_001100.4(ACTA1):c.347C>T (p.Ala116Val) SNV Likely Pathogenic
974928 rs1659975747 GRCh37: 1:229568410-229568410
GRCh38: 1:229432663-229432663
85 ACTA1 NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) SNV Likely Pathogenic
974929 rs1659978909 GRCh37: 1:229568542-229568542
GRCh38: 1:229432795-229432795
86 ACTA1 NM_001100.4(ACTA1):c.430C>T (p.Leu144Phe) SNV Likely Pathogenic
265457 rs886039557 GRCh37: 1:229568327-229568327
GRCh38: 1:229432580-229432580
87 ACTA1 NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu) SNV Likely Pathogenic
575911 rs1057518493 GRCh37: 1:229567376-229567376
GRCh38: 1:229431629-229431629
88 ACTA1 NM_001100.4(ACTA1):c.529A>G (p.Ile177Val) SNV Likely Pathogenic
617579 rs1558081804 GRCh37: 1:229568104-229568104
GRCh38: 1:229432357-229432357
89 ACTA1 NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln) SNV Likely Pathogenic
579324 rs1558081664 GRCh37: 1:229567867-229567867
GRCh38: 1:229432120-229432120
90 ACTA1 NM_001100.4(ACTA1):c.812T>G (p.Met271Arg) SNV Likely Pathogenic
464135 rs1553255360 GRCh37: 1:229567646-229567646
GRCh38: 1:229431899-229431899
91 ACTA1 NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys) SNV Likely Pathogenic
567852 rs1558081624 GRCh37: 1:229567783-229567783
GRCh38: 1:229432036-229432036
92 ACTA1 NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn) SNV Likely Pathogenic
464119 rs1553255502 GRCh37: 1:229568560-229568560
GRCh38: 1:229432813-229432813
93 ACTA1 NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro) SNV Likely Pathogenic
464113 rs1553255301 GRCh37: 1:229567326-229567326
GRCh38: 1:229431579-229431579
94 ACTA1 NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) SNV Likely Pathogenic
224672 rs878854374 GRCh37: 1:229567535-229567535
GRCh38: 1:229431788-229431788
95 ACTA1 NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu) SNV Likely Pathogenic
374934 rs1057519311 GRCh37: 1:229568112-229568112
GRCh38: 1:229432365-229432365
96 ACTA1 NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) SNV Likely Pathogenic
128260 rs587780271 GRCh37: 1:229568344-229568344
GRCh38: 1:229432597-229432597
97 ACTA1 NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) SNV Likely Pathogenic
280863 rs371410845 GRCh37: 1:229568322-229568322
GRCh38: 1:229432575-229432575
98 ACTA1 NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu) SNV Likely Pathogenic
662251 rs1571892209 GRCh37: 1:229567257-229567257
GRCh38: 1:229431510-229431510
99 ACTA1 NM_001100.4(ACTA1):c.350del (p.Asn117fs) DEL Likely Pathogenic
1029075 rs1659975666 GRCh37: 1:229568407-229568407
GRCh38: 1:229432660-229432660
100 ACTA1 NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) SNV Likely Pathogenic
1031829 rs1553255312 GRCh37: 1:229567379-229567379
GRCh38: 1:229431632-229431632
101 ACTA1 NM_001100.4(ACTA1):c.617-5C>A SNV Likely Pathogenic
1051987 GRCh37: 1:229567937-229567937
GRCh38: 1:229432190-229432190
102 ACTA1 NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn) SNV Likely Pathogenic
1467132 GRCh37: 1:229568077-229568077
GRCh38: 1:229432330-229432330
103 ACTA1 NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln) SNV Likely Pathogenic
1303122 GRCh37: 1:229567337-229567337
GRCh38: 1:229431590-229431590
104 ACTA1 NM_001100.4(ACTA1):c.286C>G (p.Leu96Val) SNV Likely Pathogenic
1348211 GRCh37: 1:229568471-229568471
GRCh38: 1:229432724-229432724
105 ACTA1 NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr) SNV Likely Pathogenic
1475492 GRCh37: 1:229568411-229568411
GRCh38: 1:229432664-229432664
106 ACTA1 NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) SNV Likely Pathogenic
431989 rs1553255293 GRCh37: 1:229567274-229567274
GRCh38: 1:229431527-229431527
107 ACTA1 NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg) SNV Likely Pathogenic
1474488 GRCh37: 1:229568615-229568615
GRCh38: 1:229432868-229432868
108 ACTA1 NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) SNV Likely Pathogenic
1685233 GRCh37: 1:229567787-229567787
GRCh38: 1:229432040-229432040
109 ACTA1 NM_001100.4(ACTA1):c.402G>A (p.Met134Ile) SNV Likely Pathogenic
464122 rs1553255486 GRCh37: 1:229568355-229568355
GRCh38: 1:229432608-229432608
110 ACTA1 NM_001100.4(ACTA1):c.980T>A (p.Met327Lys) SNV Likely Pathogenic
1479985 GRCh37: 1:229567478-229567478
GRCh38: 1:229431731-229431731
111 ACTA1 NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) SNV Likely Pathogenic
93549 rs398123563 GRCh37: 1:229568315-229568315
GRCh38: 1:229432568-229432568
112 ACTA1 NM_001100.4(ACTA1):c.685A>G (p.Met229Val) SNV Likely Pathogenic
197716 rs794727714 GRCh37: 1:229567864-229567864
GRCh38: 1:229432117-229432117
113 ACTA1 NM_001100.4(ACTA1):c.1001C>T (p.Pro334Leu) SNV Conflicting Interpretations Of Pathogenicity
532770 rs1553255312 GRCh37: 1:229567379-229567379
GRCh38: 1:229431632-229431632
114 ACTA1 NM_001100.4(ACTA1):c.108C>T (p.Ile36=) SNV Conflicting Interpretations Of Pathogenicity
296059 rs143948837 GRCh37: 1:229568755-229568755
GRCh38: 1:229433008-229433008
115 ACTA1 NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) SNV Conflicting Interpretations Of Pathogenicity
464116 rs142311664 GRCh37: 1:229567255-229567255
GRCh38: 1:229431508-229431508
116 ACTA1 NM_001100.4(ACTA1):c.132C>T (p.Gly44=) SNV Conflicting Interpretations Of Pathogenicity
128259 rs146956806 GRCh37: 1:229568625-229568625
GRCh38: 1:229432878-229432878
117 ACTA1 NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) SNV Conflicting Interpretations Of Pathogenicity
420707 rs1064794652 GRCh37: 1:229568155-229568155
GRCh38: 1:229432408-229432408
118 ACTA1 NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) SNV Conflicting Interpretations Of Pathogenicity
740066 rs770931836 GRCh37: 1:229567570-229567570
GRCh38: 1:229431823-229431823
119 ACTA1 NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) SNV Conflicting Interpretations Of Pathogenicity
874835 rs371410845 GRCh37: 1:229568322-229568322
GRCh38: 1:229432575-229432575
120 ACTA1 NM_001100.4(ACTA1):c.867C>T (p.Ile289=) SNV Conflicting Interpretations Of Pathogenicity
210091 rs140074813 GRCh37: 1:229567591-229567591
GRCh38: 1:229431844-229431844
121 ACTA1 NM_001100.4(ACTA1):c.786G>C (p.Thr262=) SNV Conflicting Interpretations Of Pathogenicity
706552 rs141030526 GRCh37: 1:229567763-229567763
GRCh38: 1:229432016-229432016
122 ACTA1 NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) SNV Conflicting Interpretations Of Pathogenicity
654469 rs1571893814 GRCh37: 1:229568474-229568474
GRCh38: 1:229432727-229432727
123 ACTA1 NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln) SNV Uncertain Significance
655648 rs1571892527 GRCh37: 1:229567493-229567493
GRCh38: 1:229431746-229431746
124 ACTA1 NM_001100.4(ACTA1):c.685A>T (p.Met229Leu) SNV Uncertain Significance
657321 rs794727714 GRCh37: 1:229567864-229567864
GRCh38: 1:229432117-229432117
125 ACTA1 NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe) SNV Uncertain Significance
659561 rs1571893107 GRCh37: 1:229567890-229567890
GRCh38: 1:229432143-229432143
126 ACTA1 NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly) SNV Uncertain Significance
654180 rs1429699993 GRCh37: 1:229568742-229568742
GRCh38: 1:229432995-229432995
127 ACTA1 NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro) SNV Uncertain Significance
642876 rs1571893051 GRCh37: 1:229567836-229567836
GRCh38: 1:229432089-229432089
128 ACTA1 NC_000001.11:g.(?_229431489)_(229433125_?)dup DUP Uncertain Significance
831733 GRCh37: 1:229567236-229568872
GRCh38:
129 ACTA1 NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile) SNV Uncertain Significance
835545 rs745494410 GRCh37: 1:229567309-229567309
GRCh38: 1:229431562-229431562
130 ACTA1 NM_001100.4(ACTA1):c.616+5G>A SNV Uncertain Significance
849844 rs773010488 GRCh37: 1:229568012-229568012
GRCh38: 1:229432265-229432265
131 ACTA1 NM_001100.4(ACTA1):c.460G>T (p.Val154Leu) SNV Uncertain Significance
855039 rs768144106 GRCh37: 1:229568173-229568173
GRCh38: 1:229432426-229432426
132 ACTA1 NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys) SNV Uncertain Significance
858299 rs1057521118 GRCh37: 1:229567873-229567873
GRCh38: 1:229432126-229432126
133 ACTA1 NM_001100.4(ACTA1):c.391G>A (p.Val131Met) SNV Uncertain Significance
858634 rs1273559032 GRCh37: 1:229568366-229568366
GRCh38: 1:229432619-229432619
134 ACTA1 NM_001100.4(ACTA1):c.133G>A (p.Val45Ile) SNV Uncertain Significance
861879 rs398123562 GRCh37: 1:229568624-229568624
GRCh38: 1:229432877-229432877
135 ACTA1 NM_001100.4(ACTA1):c.809-10C>A SNV Uncertain Significance
862818 rs1659945481 GRCh37: 1:229567659-229567659
GRCh38: 1:229431912-229431912
136 ACTA1 NM_001100.4(ACTA1):c.*248G>A SNV Uncertain Significance
876668 rs551585351 GRCh37: 1:229566998-229566998
GRCh38: 1:229431251-229431251
137 ACTA1 NM_001100.4(ACTA1):c.*66G>A SNV Uncertain Significance
876669 rs1403018747 GRCh37: 1:229567180-229567180
GRCh38: 1:229431433-229431433
138 ACTA1 NM_001100.4(ACTA1):c.480C>A (p.Gly160=) SNV Uncertain Significance
876712 rs1571893385 GRCh37: 1:229568153-229568153
GRCh38: 1:229432406-229432406
139 ACTA1 NM_001100.4(ACTA1):c.81C>T (p.Asp27=) SNV Uncertain Significance
876767 rs1553255533 GRCh37: 1:229568782-229568782
GRCh38: 1:229433035-229433035
140 ACTA1 NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser) SNV Uncertain Significance
947145 rs1553255502 GRCh37: 1:229568560-229568560
GRCh38: 1:229432813-229432813
141 ACTA1 NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile) SNV Uncertain Significance
945505 rs1659976518 GRCh37: 1:229568434-229568434
GRCh38: 1:229432687-229432687
142 ACTA1 NM_001100.4(ACTA1):c.437C>T (p.Ala146Val) SNV Uncertain Significance
848385 rs1659973054 GRCh37: 1:229568320-229568320
GRCh38: 1:229432573-229432573
143 ACTA1 NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) SNV Uncertain Significance
873830 rs1659932688 GRCh37: 1:229567252-229567252
GRCh38: 1:229431505-229431505
144 ACTA1 NM_001100.4(ACTA1):c.453C>G (p.Thr151=) SNV Uncertain Significance
873885 rs76030344 GRCh37: 1:229568304-229568304
GRCh38: 1:229432557-229432557
145 ACTA1 NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala) SNV Uncertain Significance
843807 rs1659934469 GRCh37: 1:229567323-229567323
GRCh38: 1:229431576-229431576
146 ACTA1 NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn) SNV Uncertain Significance
952017 rs1659943773 GRCh37: 1:229567592-229567592
GRCh38: 1:229431845-229431845
147 ACTA1 NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg) SNV Uncertain Significance
954259 rs1659984455 GRCh37: 1:229568744-229568744
GRCh38: 1:229432997-229432997
148 ACTA1 NM_001100.4(ACTA1):c.964C>G (p.Leu322Val) SNV Uncertain Significance
956562 rs1659940726 GRCh37: 1:229567494-229567494
GRCh38: 1:229431747-229431747
149 ACTA1 NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn) SNV Uncertain Significance
958807 rs1659986226 GRCh37: 1:229568803-229568803
GRCh38: 1:229433056-229433056
150 ACTA1 NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile) SNV Uncertain Significance
1034583 rs146508471 GRCh37: 1:229568423-229568423
GRCh38: 1:229432676-229432676
151 ACTA1 NM_001100.4(ACTA1):c.616+4C>G SNV Uncertain Significance
1041733 rs371799971 GRCh37: 1:229568013-229568013
GRCh38: 1:229432266-229432266
152 ACTA1 NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser) SNV Uncertain Significance
1042202 rs1659975786 GRCh37: 1:229568411-229568411
GRCh38: 1:229432664-229432664
153 ACTA1 NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) SNV Uncertain Significance
42109 rs367543051 GRCh37: 1:229567822-229567822
GRCh38: 1:229432075-229432075
154 ACTA1 NM_001100.4(ACTA1):c.983_985del (p.Lys328del) DEL Uncertain Significance
1003875 rs1659939983 GRCh37: 1:229567473-229567475
GRCh38: 1:229431726-229431728
155 ACTA1 NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg) SNV Uncertain Significance
280732 rs398123563 GRCh37: 1:229568315-229568315
GRCh38: 1:229432568-229432568
156 ACTA1 NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) SNV Uncertain Significance
1015544 rs1659954634 GRCh37: 1:229567807-229567807
GRCh38: 1:229432060-229432060
157 ACTA1 NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) SNV Uncertain Significance
1018348 rs587780272 GRCh37: 1:229568118-229568118
GRCh38: 1:229432371-229432371
158 ACTA1 NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) SNV Uncertain Significance
560935 rs1558081797 GRCh37: 1:229568094-229568094
GRCh38: 1:229432347-229432347
159 ACTA1 NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro) SNV Uncertain Significance
560936 rs546670743 GRCh37: 1:229568781-229568781
GRCh38: 1:229433034-229433034
160 ACTA1 NM_001100.4(ACTA1):c.168G>A (p.Val56=) SNV Uncertain Significance
567148 rs765413340 GRCh37: 1:229568589-229568589
GRCh38: 1:229432842-229432842
161 ACTA1 NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys) SNV Uncertain Significance
581898 rs533868659 GRCh37: 1:229567561-229567561
GRCh38: 1:229431814-229431814
162 ACTA1 NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys) SNV Uncertain Significance
582273 rs1558082103 GRCh37: 1:229568609-229568609
GRCh38: 1:229432862-229432862
163 ACTA1 NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala) SNV Uncertain Significance
583243 rs1558081384 GRCh37: 1:229567377-229567377
GRCh38: 1:229431630-229431630
164 ACTA1 NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp) SNV Uncertain Significance
573874 rs1558081360 GRCh37: 1:229567349-229567349
GRCh38: 1:229431602-229431602
165 ACTA1 NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) SNV Uncertain Significance
464121 rs766934634 GRCh37: 1:229568368-229568368
GRCh38: 1:229432621-229432621
166 ACTA1 NM_001100.4(ACTA1):c.454+3G>T SNV Uncertain Significance
296057 rs200976037 GRCh37: 1:229568300-229568300
GRCh38: 1:229432553-229432553
167 ACTA1 NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del) DEL Uncertain Significance
464137 rs1553255336 GRCh37: 1:229567490-229567495
GRCh38: 1:229431743-229431748
168 ACTA1 NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln) SNV Uncertain Significance
381640 rs1057521118 GRCh37: 1:229567873-229567873
GRCh38: 1:229432126-229432126
169 ACTA1 NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser) SNV Uncertain Significance
532773 rs1553255405 GRCh37: 1:229567753-229567753
GRCh38: 1:229432006-229432006
170 ACTA1 NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) SNV Uncertain Significance
127188 rs587777354 GRCh37: 1:229567306-229567306
GRCh38: 1:229431559-229431559
171 ACTA1 NM_001100.4(ACTA1):c.981G>C (p.Met327Ile) SNV Uncertain Significance
464138 rs1553255334 GRCh37: 1:229567477-229567477
GRCh38: 1:229431730-229431730
172 ACTA1 NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu) SNV Uncertain Significance
464127 rs1255258064 GRCh37: 1:229568027-229568027
GRCh38: 1:229432280-229432280
173 ACTA1 NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del) DEL Uncertain Significance
464124 rs1553255444 GRCh37: 1:229568155-229568172
GRCh38: 1:229432408-229432425
174 ACTA1 NM_001100.4(ACTA1):c.966G>A (p.Leu322=) SNV Uncertain Significance
296052 rs765996798 GRCh37: 1:229567492-229567492
GRCh38: 1:229431745-229431745
175 ACTA1 NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) SNV Uncertain Significance
296051 rs886046075 GRCh37: 1:229567267-229567267
GRCh38: 1:229431520-229431520
176 ACTA1 NM_001100.4(ACTA1):c.811A>G (p.Met271Val) SNV Uncertain Significance
464134 rs1553255361 GRCh37: 1:229567647-229567647
GRCh38: 1:229431900-229431900
177 ACTA1 NM_001100.4(ACTA1):c.129+14T>C SNV Uncertain Significance
296058 rs886046076 GRCh37: 1:229568720-229568720
GRCh38: 1:229432973-229432973
178 ACTA1 NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr) SNV Uncertain Significance
464115 rs1553255290 GRCh37: 1:229567271-229567271
GRCh38: 1:229431524-229431524
179 ACTA1 NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn) SNV Uncertain Significance
464112 rs1553255306 GRCh37: 1:229567366-229567366
GRCh38: 1:229431619-229431619
180 ACTA1 NM_001100.4(ACTA1):c.808+6C>A SNV Uncertain Significance
464131 rs200342114 GRCh37: 1:229567735-229567735
GRCh38: 1:229431988-229431988
181 ACTA1 NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro) SNV Uncertain Significance
464123 rs1553255482 GRCh37: 1:229568332-229568332
GRCh38: 1:229432585-229432585
182 ACTA1 NM_001100.4(ACTA1):c.453C>T (p.Thr151=) SNV Uncertain Significance
464118 rs76030344 GRCh37: 1:229568304-229568304
GRCh38: 1:229432557-229432557
183 ACTA1 NM_001100.4(ACTA1):c.898G>T (p.Val300Phe) SNV Uncertain Significance
464136 rs1553255349 GRCh37: 1:229567560-229567560
GRCh38: 1:229431813-229431813
184 ACTA1 NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly) SNV Uncertain Significance
464133 rs1553255534 GRCh37: 1:229568783-229568783
GRCh38: 1:229433036-229433036
185 ACTA1 NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) SNV Uncertain Significance
1679829 GRCh37: 1:229568599-229568599
GRCh38: 1:229432852-229432852
186 ACTA1 NM_001100.4(ACTA1):c.532A>C (p.Met178Leu) SNV Uncertain Significance
1713410 GRCh37: 1:229568101-229568101
GRCh38: 1:229432354-229432354
187 ACTA1 NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu) SNV Uncertain Significance
1714078 GRCh37: 1:229567752-229567752
GRCh38: 1:229432005-229432005
188 ACTA1 NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) SNV Uncertain Significance
642798 rs1571894217 GRCh37: 1:229568826-229568826
GRCh38: 1:229433079-229433079
189 ACTA1 NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys) SNV Uncertain Significance
93550 rs398123564 GRCh37: 1:229568311-229568311
GRCh38: 1:229432564-229432564
190 ACTA1 NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile) SNV Uncertain Significance
1447156 GRCh37: 1:229568046-229568046
GRCh38: 1:229432299-229432299
191 ACTA1 NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) SNV Uncertain Significance
1180752 GRCh37: 1:229567800-229567800
GRCh38: 1:229432053-229432053
192 ACTA1 NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys) INDEL Uncertain Significance
1404743 GRCh37: 1:229568780-229568781
GRCh38: 1:229433033-229433034
193 ACTA1 NM_001100.4(ACTA1):c.131G>T (p.Gly44Val) SNV Uncertain Significance
1403375 GRCh37: 1:229568626-229568626
GRCh38: 1:229432879-229432879
194 ACTA1 NM_001100.4(ACTA1):c.455-9C>G SNV Uncertain Significance
1403501 GRCh37: 1:229568187-229568187
GRCh38: 1:229432440-229432440
195 ACTA1 NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg) SNV Uncertain Significance
1409843 GRCh37: 1:229568332-229568332
GRCh38: 1:229432585-229432585
196 ACTA1 NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp) SNV Uncertain Significance
1366585 GRCh37: 1:229567547-229567547
GRCh38: 1:229431800-229431800
197 ACTA1 NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys) SNV Uncertain Significance
1502214 GRCh37: 1:229567749-229567749
GRCh38: 1:229432002-229432002
198 ACTA1 NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr) SNV Uncertain Significance
1485789 GRCh37: 1:229568823-229568823
GRCh38: 1:229433076-229433076
199 ACTA1 NM_001100.4(ACTA1):c.455-8G>A SNV Uncertain Significance
1524973 GRCh37: 1:229568186-229568186
GRCh38: 1:229432439-229432439
200 ACTA1 NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile) SNV Uncertain Significance
1489557 GRCh37: 1:229568566-229568566
GRCh38: 1:229432819-229432819
201 ACTA1 NM_001100.4(ACTA1):c.517C>A (p.Leu173Met) SNV Uncertain Significance
1450632 GRCh37: 1:229568116-229568116
GRCh38: 1:229432369-229432369
202 ACTA1 NM_001100.4(ACTA1):c.922T>C (p.Tyr308His) SNV Uncertain Significance
1349349 GRCh37: 1:229567536-229567536
GRCh38: 1:229431789-229431789
203 ACTA1 NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser) SNV Uncertain Significance
1351681 GRCh37: 1:229567927-229567927
GRCh38: 1:229432180-229432180
204 ACTA1 NM_001100.4(ACTA1):c.153G>C (p.Gln51His) SNV Uncertain Significance
1349618 GRCh37: 1:229568604-229568604
GRCh38: 1:229432857-229432857
205 ACTA1 NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs) DEL Uncertain Significance
1514282 GRCh37: 1:229567320-229567336
GRCh38: 1:229431573-229431589
206 ACTA1 NM_001100.4(ACTA1):c.616+4C>T SNV Uncertain Significance
1515742 GRCh37: 1:229568013-229568013
GRCh38: 1:229432266-229432266
207 ACTA1 NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn) SNV Uncertain Significance
1522830 GRCh37: 1:229568305-229568305
GRCh38: 1:229432558-229432558
208 ACTA1 NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys) SNV Uncertain Significance
1463480 GRCh37: 1:229568759-229568759
GRCh38: 1:229433012-229433012
209 ACTA1 NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn) INDEL Uncertain Significance
1469898 GRCh37: 1:229567851-229567852
GRCh38: 1:229432104-229432105
210 ACTA1 NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser) SNV Uncertain Significance
1428668 GRCh37: 1:229568781-229568781
GRCh38: 1:229433034-229433034
211 ACTA1 NM_001100.4(ACTA1):c.808+3G>A SNV Uncertain Significance
1469599 GRCh37: 1:229567738-229567738
GRCh38: 1:229431991-229431991
212 ACTA1 NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys) SNV Uncertain Significance
1052696 GRCh37: 1:229567792-229567792
GRCh38: 1:229432045-229432045
213 ACTA1 NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp) SNV Uncertain Significance
1054689 GRCh37: 1:229568750-229568750
GRCh38: 1:229433003-229433003
214 ACTA1 NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) SNV Uncertain Significance
18290 rs121909530 GRCh37: 1:229567881-229567881
GRCh38: 1:229432134-229432134
215 ACTA1 NM_001100.4(ACTA1):c.282C>T (p.Asn94=) SNV Likely Benign
1085786 GRCh37: 1:229568475-229568475
GRCh38: 1:229432728-229432728
216 ACTA1 NM_001100.4(ACTA1):c.1065G>A (p.Gln355=) SNV Likely Benign
510989 rs375945657 GRCh37: 1:229567315-229567315
GRCh38: 1:229431568-229431568
217 ACTA1 NM_001100.4(ACTA1):c.102G>T (p.Pro34=) SNV Likely Benign
1089251 GRCh37: 1:229568761-229568761
GRCh38: 1:229433014-229433014
218 ACTA1 NM_001100.4(ACTA1):c.462G>T (p.Val154=) SNV Likely Benign
1092038 GRCh37: 1:229568171-229568171
GRCh38: 1:229432424-229432424
219 ACTA1 NM_001100.4(ACTA1):c.423G>A (p.Val141=) SNV Likely Benign
747726 rs553019935 GRCh37: 1:229568334-229568334
GRCh38: 1:229432587-229432587
220 ACTA1 NM_001100.4(ACTA1):c.1050G>T (p.Ser350=) SNV Likely Benign
1098969 GRCh37: 1:229567330-229567330
GRCh38: 1:229431583-229431583
221 ACTA1 NM_001100.4(ACTA1):c.24C>A (p.Thr8=) SNV Likely Benign
464120 rs762659680 GRCh37: 1:229568839-229568839
GRCh38: 1:229433092-229433092
222 ACTA1 NM_001100.4(ACTA1):c.454+10C>A SNV Likely Benign
1104791 GRCh37: 1:229568293-229568293
GRCh38: 1:229432546-229432546
223 ACTA1 NM_001100.4(ACTA1):c.808+9C>A SNV Likely Benign
1110090 GRCh37: 1:229567732-229567732
GRCh38: 1:229431985-229431985
224 ACTA1 NM_001100.4(ACTA1):c.555C>T (p.Arg185=) SNV Likely Benign
760465 rs759606148 GRCh37: 1:229568078-229568078
GRCh38: 1:229432331-229432331
225 ACTA1 NM_001100.4(ACTA1):c.441C>T (p.Ser147=) SNV Likely Benign
1139429 GRCh37: 1:229568316-229568316
GRCh38: 1:229432569-229432569
226 ACTA1 NM_001100.4(ACTA1):c.141C>A (p.Val47=) SNV Likely Benign
740686 rs535751046 GRCh37: 1:229568616-229568616
GRCh38: 1:229432869-229432869
227 ACTA1 NM_001100.4(ACTA1):c.312C>G (p.Pro104=) SNV Likely Benign
1147290 GRCh37: 1:229568445-229568445
GRCh38: 1:229432698-229432698
228 ACTA1 NM_001100.4(ACTA1):c.882C>T (p.Asp294=) SNV Likely Benign
1154282 GRCh37: 1:229567576-229567576
GRCh38: 1:229431829-229431829
229 ACTA1 NM_001100.4(ACTA1):c.693G>A (p.Thr231=) SNV Likely Benign
1155353 GRCh37: 1:229567856-229567856
GRCh38: 1:229432109-229432109
230 ACTA1 NM_001100.4(ACTA1):c.459C>A (p.Ile153=) SNV Likely Benign
739515 rs780711799 GRCh37: 1:229568174-229568174
GRCh38: 1:229432427-229432427
231 ACTA1 NM_001100.4(ACTA1):c.546G>A (p.Leu182=) SNV Likely Benign
1159785 GRCh37: 1:229568087-229568087
GRCh38: 1:229432340-229432340
232 ACTA1 NM_001100.4(ACTA1):c.130-9G>T SNV Likely Benign
464117 rs1553255511 GRCh37: 1:229568636-229568636
GRCh38: 1:229432889-229432889
233 ACTA1 NM_001100.4(ACTA1):c.774C>T (p.Arg258=) SNV Likely Benign
1160790 GRCh37: 1:229567775-229567775
GRCh38: 1:229432028-229432028
234 ACTA1 NM_001100.4(ACTA1):c.730C>T (p.Leu244=) SNV Likely Benign
1578392 GRCh37: 1:229567819-229567819
GRCh38: 1:229432072-229432072
235 ACTA1 NM_001100.4(ACTA1):c.588T>C (p.Thr196=) SNV Likely Benign
1580574 GRCh37: 1:229568045-229568045
GRCh38: 1:229432298-229432298
236 ACTA1 NM_001100.4(ACTA1):c.555C>A (p.Arg185=) SNV Likely Benign
1618711 GRCh37: 1:229568078-229568078
GRCh38: 1:229432331-229432331
237 ACTA1 NM_001100.4(ACTA1):c.744G>A (p.Gln248=) SNV Likely Benign
1589183 GRCh37: 1:229567805-229567805
GRCh38: 1:229432058-229432058
238 ACTA1 NM_001100.4(ACTA1):c.809-18_809-17insT INSERT Likely Benign
1531300 GRCh37: 1:229567666-229567667
GRCh38: 1:229431919-229431920
239 ACTA1 NM_001100.4(ACTA1):c.809-14G>T SNV Likely Benign
1621819 GRCh37: 1:229567663-229567663
GRCh38: 1:229431916-229431916
240 ACTA1 NM_001100.4(ACTA1):c.130-5_130-4inv INVERS Likely Benign
1597695 GRCh37: 1:229568631-229568632
GRCh38: 1:229432884-229432885
241 ACTA1 NM_001100.4(ACTA1):c.130-11C>G SNV Likely Benign
1587987 GRCh37: 1:229568638-229568638
GRCh38: 1:229432891-229432891
242 ACTA1 NM_001100.4(ACTA1):c.129+20G>C SNV Likely Benign
1588019 GRCh37: 1:229568714-229568714
GRCh38: 1:229432967-229432967
243 ACTA1 NM_001100.4(ACTA1):c.809-14_809-13insA INSERT Likely Benign
296054 rs749384329 GRCh37: 1:229567662-229567663
GRCh38: 1:229431915-229431916
244 ACTA1 NM_001100.4(ACTA1):c.808+13C>T SNV Likely Benign
257448 rs539461449 GRCh37: 1:229567728-229567728
GRCh38: 1:229431981-229431981
245 ACTA1 NM_001100.4(ACTA1):c.454+11G>A SNV Likely Benign
384485 rs551674486 GRCh37: 1:229568292-229568292
GRCh38: 1:229432545-229432545
246 ACTA1 NM_001100.4(ACTA1):c.990+6TGG[3] MICROSAT Likely Benign
1633317 GRCh37: 1:229567456-229567457
GRCh38: 1:229431709-229431710
247 ACTA1 NM_001100.4(ACTA1):c.984G>A (p.Lys328=) SNV Likely Benign
1608770 GRCh37: 1:229567474-229567474
GRCh38: 1:229431727-229431727
248 ACTA1 NM_001100.4(ACTA1):c.616+19C>A SNV Likely Benign
1650572 GRCh37: 1:229567998-229567998
GRCh38: 1:229432251-229432251
249 ACTA1 NM_001100.4(ACTA1):c.616+19C>T SNV Likely Benign
1557001 GRCh37: 1:229567998-229567998
GRCh38: 1:229432251-229432251
250 ACTA1 NM_001100.4(ACTA1):c.454+15C>A SNV Likely Benign
1665648 GRCh37: 1:229568288-229568288
GRCh38: 1:229432541-229432541
251 ACTA1 NM_001100.4(ACTA1):c.960C>T (p.Thr320=) SNV Likely Benign
1570358 GRCh37: 1:229567498-229567498
GRCh38: 1:229431751-229431751
252 ACTA1 NM_001100.4(ACTA1):c.645G>A (p.Lys215=) SNV Likely Benign
464129 rs1553255420 GRCh37: 1:229567904-229567904
GRCh38: 1:229432157-229432157
253 ACTA1 NM_001100.4(ACTA1):c.963G>A (p.Ala321=) SNV Likely Benign
703933 rs374599062 GRCh37: 1:229567495-229567495
GRCh38: 1:229431748-229431748
254 ACTA1 NM_001100.4(ACTA1):c.324C>A (p.Thr108=) SNV Likely Benign
705421 rs41271479 GRCh37: 1:229568433-229568433
GRCh38: 1:229432686-229432686
255 ACTA1 NM_001100.4(ACTA1):c.246T>C (p.Asp82=) SNV Likely Benign
210090 rs373785144 GRCh37: 1:229568511-229568511
GRCh38: 1:229432764-229432764
256 ACTA1 NM_001100.4(ACTA1):c.963G>C (p.Ala321=) SNV Likely Benign
746758 rs374599062 GRCh37: 1:229567495-229567495
GRCh38: 1:229431748-229431748
257 ACTA1 NM_001100.4(ACTA1):c.117C>T (p.Arg39=) SNV Likely Benign
767394 rs369113039 GRCh37: 1:229568746-229568746
GRCh38: 1:229432999-229432999
258 ACTA1 NM_001100.4(ACTA1):c.300C>G (p.Pro100=) SNV Likely Benign
799786 rs1571893786 GRCh37: 1:229568457-229568457
GRCh38: 1:229432710-229432710
259 ACTA1 NM_001100.4(ACTA1):c.549G>A (p.Ala183=) SNV Benign/Likely Benign
296056 rs200094415 GRCh37: 1:229568084-229568084
GRCh38: 1:229432337-229432337
260 ACTA1 NM_001100.4(ACTA1):c.809-13dup DUP Benign
93551 rs201427429 GRCh37: 1:229567660-229567661
GRCh38: 1:229431913-229431914
261 ACTA1 NM_001100.4(ACTA1):c.454+15C>T SNV Benign
682261 rs201388631 GRCh37: 1:229568288-229568288
GRCh38: 1:229432541-229432541
262 ACTA1 NM_001100.4(ACTA1):c.129+16C>T SNV Benign
385202 rs148084911 GRCh37: 1:229568718-229568718
GRCh38: 1:229432971-229432971
263 ACTA1 NM_001100.4(ACTA1):c.130-20G>T SNV Benign
1629709 GRCh37: 1:229568647-229568647
GRCh38: 1:229432900-229432900
264 ACTA1 NM_001100.4(ACTA1):c.809-18dup DUP Benign
93553 rs398123565 GRCh37: 1:229567663-229567664
GRCh38: 1:229431916-229431917
265 ACTA1 NM_001100.4(ACTA1):c.455-53A>C SNV Benign
676564 rs527621 GRCh37: 1:229568231-229568231
GRCh38: 1:229432484-229432484
266 ACTA1 NM_001100.4(ACTA1):c.453C>A (p.Thr151=) SNV Benign
257445 rs76030344 GRCh37: 1:229568304-229568304
GRCh38: 1:229432557-229432557
267 LOC122152321, ACTA1 NM_001100.4(ACTA1):c.-66C>T SNV Benign
296062 rs605428 GRCh37: 1:229569804-229569804
GRCh38: 1:229434057-229434057
268 ACTA1 NM_001100.4(ACTA1):c.130-5T>C SNV Benign
93547 rs11803533 GRCh37: 1:229568632-229568632
GRCh38: 1:229432885-229432885
269 LOC122152321, ACTA1 NM_001100.4(ACTA1):c.-65T>C SNV Benign
296060 rs605430 GRCh37: 1:229569803-229569803
GRCh38: 1:229434056-229434056
270 ACTA1 NM_001100.4(ACTA1):c.130-10G>C SNV Benign
93546 rs41271481 GRCh37: 1:229568637-229568637
GRCh38: 1:229432890-229432890
271 ACTA1 NM_001100.4(ACTA1):c.809-14G>C SNV Benign
93552 rs6673359 GRCh37: 1:229567663-229567663
GRCh38: 1:229431916-229431916
272 ACTA1 NM_001100.4(ACTA1):c.617-5C>T SNV Benign
257447 rs199804338 GRCh37: 1:229567937-229567937
GRCh38: 1:229432190-229432190
273 ACTA1 NM_001100.4(ACTA1):c.996C>A (p.Ile332=) SNV Benign
93555 rs74897770 GRCh37: 1:229567384-229567384
GRCh38: 1:229431637-229431637
274 NEB, RIF1 NM_001164508.2(NEB):c.21797C>T (p.Pro7266Leu) SNV Not Provided
387835 rs367626762 GRCh37: 2:152384038-152384038
GRCh38: 2:151527524-151527524

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 3:

73 (showing 80, show less)
# Symbol AA change Variation ID SNP ID
1 ACTA1 p.Gly17Arg VAR_011680 rs121909521
2 ACTA1 p.Leu96Pro VAR_011681 rs121909519
3 ACTA1 p.Asn117Ser VAR_011682 rs121909520
4 ACTA1 p.Ile138Met VAR_011683 rs121909526
5 ACTA1 p.Val165Leu VAR_011684 rs121909522
6 ACTA1 p.Glu261Val VAR_011685 rs121909523
7 ACTA1 p.Gly270Cys VAR_011686 rs121909525
8 ACTA1 p.Val372Phe VAR_011687
9 ACTA1 p.Met134Val VAR_013470
10 ACTA1 p.Met271Arg VAR_013471 rs1553255360
11 ACTA1 p.His42Tyr VAR_015579
12 ACTA1 p.Gly184Asp VAR_015580
13 ACTA1 p.Arg185Gly VAR_015581
14 ACTA1 p.Arg185Cys VAR_015582 rs1064794287
15 ACTA1 p.Arg258His VAR_015583
16 ACTA1 p.Gln265Leu VAR_015584
17 ACTA1 p.Asn282Lys VAR_015585
18 ACTA1 p.Asp288Gly VAR_015586
19 ACTA1 p.Ile359Leu VAR_015587 rs121909524
20 ACTA1 p.Asp3Tyr VAR_062424 rs121909527
21 ACTA1 p.Asp27Asn VAR_062425
22 ACTA1 p.Val37Leu VAR_062426 rs1553255521
23 ACTA1 p.Pro40Leu VAR_062427
24 ACTA1 p.Gln43Arg VAR_062428
25 ACTA1 p.Gly44Val VAR_062429
26 ACTA1 p.Val45Phe VAR_062430 rs398123562
27 ACTA1 p.Ile66Asn VAR_062431 rs1553255502
28 ACTA1 p.Thr68Ile VAR_062432
29 ACTA1 p.Glu74Lys VAR_062433
30 ACTA1 p.His75Leu VAR_062434
31 ACTA1 p.His75Arg VAR_062435
32 ACTA1 p.Ile77Leu VAR_062436
33 ACTA1 p.Thr79Ala VAR_062437
34 ACTA1 p.Glu85Lys VAR_062438
35 ACTA1 p.Ala116Thr VAR_062439
36 ACTA1 p.Asn117Thr VAR_062440
37 ACTA1 p.Arg118His VAR_062441
38 ACTA1 p.Val136Ala VAR_062442
39 ACTA1 p.Ala140Pro VAR_062443
40 ACTA1 p.Leu142Pro VAR_062444 rs1553255482
41 ACTA1 p.Gly148Asp VAR_062445
42 ACTA1 p.Thr150Asn VAR_062446
43 ACTA1 p.Asp156Asn VAR_062447
44 ACTA1 p.Val165Met VAR_062448 rs121909522
45 ACTA1 p.Ala172Gly VAR_062449
46 ACTA1 p.Asp181Gly VAR_062450
47 ACTA1 p.Asp181His VAR_062451
48 ACTA1 p.Asp181Asn VAR_062452
49 ACTA1 p.Arg185Asp VAR_062453
50 ACTA1 p.Arg185Ser VAR_062454 rs1064794287
51 ACTA1 p.Arg198Leu VAR_062455
52 ACTA1 p.Gly199Ser VAR_062456
53 ACTA1 p.Glu226Gly VAR_062457
54 ACTA1 p.Glu226Gln VAR_062458 rs1057521118
55 ACTA1 p.Asn227Val VAR_062459
56 ACTA1 p.Met229Ile VAR_062460
57 ACTA1 p.Met229Thr VAR_062461
58 ACTA1 p.Met229Val VAR_062462 rs794727714
59 ACTA1 p.Glu243Lys VAR_062463 rs367543051
60 ACTA1 p.Gln248Lys VAR_062464
61 ACTA1 p.Gln248Arg VAR_062465
62 ACTA1 p.Gly253Asp VAR_062466
63 ACTA1 p.Arg258Leu VAR_062467
64 ACTA1 p.Gly270Asp VAR_062468
65 ACTA1 p.Gly270Arg VAR_062469 rs121909525
66 ACTA1 p.Ala274Glu VAR_062470 rs1553255357
67 ACTA1 p.Tyr281His VAR_062471
68 ACTA1 p.Met285Lys VAR_062472
69 ACTA1 p.Glu336Ala VAR_062473 rs121909528
70 ACTA1 p.Lys338Glu VAR_062474
71 ACTA1 p.Lys338Ile VAR_062475
72 ACTA1 p.Ser350Leu VAR_062476
73 ACTA1 p.Arg374Ser VAR_062477
74 ACTA1 p.Lys375Glu VAR_062478 rs1571892209
75 ACTA1 p.Lys375Gln VAR_062479
76 ACTA1 p.Lys328Asn VAR_076427 rs398122936
77 ACTA1 p.Trp358Cys VAR_076428 rs587777354
78 ACTA1 p.Pro72Arg VAR_083589
79 ACTA1 p.Ala116Val VAR_083590
80 ACTA1 p.Gly17Ser VAR_085717

Expression for Nemaline Myopathy 3

Search GEO for disease gene expression data for Nemaline Myopathy 3.

Pathways for Nemaline Myopathy 3

GO Terms for Nemaline Myopathy 3

Biological processes related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA biosynthetic process GO:0071897 8.8 POLM POLE

Molecular functions related to Nemaline Myopathy 3 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 DNA-directed DNA polymerase activity GO:0003887 9.26 POLM POLE
2 nucleotidyltransferase activity GO:0016779 8.8 TENT4A POLM POLE

Sources for Nemaline Myopathy 3

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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