LGMDR12
MCID: MSC181
MIFTS: 35

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 (LGMDR12)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 56 73
Muscular Dystrophy, Limb-Girdle, Type 2l 56 52 73 13
Lgmd2l 56 52 58 73
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l 52 58
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 52 58
Limb-Girdle Muscular Dystrophy, Type 2l 29 6
Lgmdr12 56 73
Muscular Dystrophy, Limb-Girdle, Type 2l; Lgmd2l 56
Dystrophy, Muscular, Limb-Girdle, Type 2l 39
Limb-Girdle Muscular Dystrophy Type 2l 52
Limb-Girdle Muscular Dystrophy 2l 73

Characteristics:

Orphanet epidemiological data:

58
anoctamin-5-related limb-girdle muscular dystrophy r12
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
progressive disorder
intrafamilial variability
range of onset 11 to 50 years
patients may become wheelchair-bound after about 12 years
allelic disorder to miyoshi muscular dystrophy 3 (mmd3, )


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 12:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity progressive


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

OMIM 56 611307
OMIM Phenotypic Series 56 PS253600
MeSH 43 D049288
ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1969785
Orphanet 58 ORPHA206549
MedGen 41 C1969785

Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

UniProtKB/Swiss-Prot : 73 Muscular dystrophy, limb-girdle, autosomal recessive 12: An autosomal recessive degenerative myopathy characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12, also known as muscular dystrophy, limb-girdle, type 2l, is related to autosomal recessive limb-girdle muscular dystrophy type 2l and bethlem myopathy 1, and has symptoms including myalgia An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 is ANO5 (Anoctamin 5). Affiliated tissues include skeletal muscle and bone, and related phenotypes are elevated serum creatine kinase and facial palsy

More information from OMIM: 611307 PS253600

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2l 11.9
2 bethlem myopathy 1 10.4
3 miyoshi muscular dystrophy 10.4
4 myofibrillar myopathy 10.4
5 neuromuscular disease 10.4
6 progressive muscular dystrophy 10.4
7 gnathodiaphyseal dysplasia 10.3
8 miyoshi muscular dystrophy 1 10.3
9 miyoshi muscular dystrophy 3 10.3
10 myopathy 10.3
11 muscular dystrophy 10.3
12 limb-girdle muscular dystrophy 10.3
13 muscular dystrophy, limb-girdle, autosomal recessive 2 10.1
14 ano5 muscle disease 10.1

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

31 58 (show all 41)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 elevated serum creatine kinase 31 frequent (33%) HP:0003236
2 facial palsy 58 31 Occasional (29-5%) HP:0010628
3 myalgia 58 31 Very frequent (99-80%) HP:0003326
4 emg: myopathic abnormalities 58 31 Frequent (79-30%) HP:0003458
5 calf muscle hypertrophy 58 31 Occasional (29-5%) HP:0008981
6 flexion contracture 58 Occasional (29-5%)
7 elevated serum creatine phosphokinase 58 Frequent (79-30%)
8 genu recurvatum 58 Frequent (79-30%)
9 cardiomyopathy 58 Occasional (29-5%)
10 limb-girdle muscular dystrophy 58 Very frequent (99-80%)
11 elbow flexion contracture 58 Occasional (29-5%)
12 scapular winging 58 Occasional (29-5%)
13 proximal muscle weakness in lower limbs 58 Very frequent (99-80%)
14 proximal muscle weakness in upper limbs 58 Frequent (79-30%)
15 pelvic girdle muscle weakness 31 HP:0003749
16 proximal muscle weakness 31 HP:0003701
17 wrist flexion contracture 58 Occasional (29-5%)
18 abnormality of muscle fibers 58 Frequent (79-30%)
19 muscular dystrophy 31 HP:0003560
20 increased connective tissue 31 HP:0009025
21 muscle fiber atrophy 58 Frequent (79-30%)
22 increased variability in muscle fiber diameter 58 Frequent (79-30%)
23 distal lower limb muscle weakness 58 Very frequent (99-80%)
24 ankle contracture 58 Occasional (29-5%)
25 exercise-induced myalgia 58 Frequent (79-30%)
26 flexion contracture of finger 58 Occasional (29-5%)
27 muscle fiber splitting 58 Frequent (79-30%)
28 internally nucleated skeletal muscle fibers 58 Frequent (79-30%)
29 myoglobinuria 58 Occasional (29-5%)
30 increased endomysial connective tissue 58 Frequent (79-30%)
31 lower limb amyotrophy 58 Frequent (79-30%)
32 quadriceps muscle atrophy 58 Frequent (79-30%)
33 hamstring contractures 58 Occasional (29-5%)
34 abnormality of the calf musculature 58 Frequent (79-30%)
35 emg: neuropathic changes 58 Frequent (79-30%)
36 shoulder girdle muscle weakness 31 HP:0003547
37 pelvic girdle muscle atrophy 58 Frequent (79-30%)
38 upper limb amyotrophy 58 Occasional (29-5%)
39 emg: axonal abnormality 58 Frequent (79-30%)
40 emg: myotonic runs 58 Frequent (79-30%)
41 fatty replacement of skeletal muscle 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Muscle Soft Tissue:
myalgia
proximal muscle weakness
shoulder girdle muscle weakness
myopathic changes seen on emg
dystrophic changes seen on muscle biopsy
more
Head And Neck Face:
mild facial weakness (less common)

Laboratory Abnormalities:
normal or increased serum creatine kinase

Clinical features from OMIM:

611307

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:


myalgia

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy Active, not recruiting NCT02897921

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2l 29 ANO5

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

40
Skeletal Muscle, Bone

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

(show all 40)
# Title Authors PMID Year
1
Recessive mutations in the putative calcium-activated chloride channel Anoctamin 5 cause proximal LGMD2L and distal MMD3 muscular dystrophies. 61 56 6
20096397 2010
2
Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5. 56 6
22402862 2012
3
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. 56 6
17008331 2007
4
ANO5 Muscle Disease 61 6
23193613 2012
5
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 56
30055862 2018
6
Patients with a non-dysferlin Miyoshi myopathy have a novel membrane repair defect. 6
17132147 2007
7
Genetic heterogeneity in Miyoshi-type distal muscular dystrophy. 6
9673985 1998
8
Quadriceps myopathy--entity or syndrome? 56
4834543 1974
9
Deficiency of Anoctamin 5/TMEM16E causes nuclear positioning defect and impairs Ca2+ signaling of differentiated C2C12 myotubes. 61
31680776 2019
10
ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure. 61
31395899 2019
11
Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients. 61
30919934 2019
12
Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells. 61
31341644 2019
13
Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion. 61
30257928 2018
14
First familial limb-girdle muscular dystrophy 2L in China: Clinical, imaging, pathological, and genetic features. 61
30235762 2018
15
Development of muscular dystrophy in a CRISPR-engineered mutant rabbit model with frame-disrupting ANO5 mutations. 61
29789544 2018
16
A novel ANO5 splicing variant in a LGMD2L patient leads to production of a truncated aggregation-prone Ano5 peptide. 61
29665321 2018
17
A Japanese male with a novel ANO5 mutation with minimal muscle weakness and muscle pain till his late fifties. 61
28214267 2017
18
Utility of a next-generation sequencing-based gene panel investigation in German patients with genetically unclassified limb-girdle muscular dystrophy. 61
26886200 2016
19
Muscle exercise in limb girdle muscular dystrophies: pitfall and advantages. 61
26155063 2015
20
Clinical and genetic features of anoctaminopathy in Saudi Arabia. 61
25864073 2015
21
Genetic disruption of Ano5 in mice does not recapitulate human ANO5-deficient muscular dystrophy. 61
26693275 2015
22
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. 61
25176504 2014
23
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic. 61
25135358 2014
24
Aerobic training in patients with anoctamin 5 myopathy and hyperckemia. 61
24639367 2014
25
The significance of pathological spontaneous activity in various myopathies. 61
24370491 2014
26
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
27
Limb girdle muscular dystrophy type 2L presenting as necrotizing myopathy. 61
24843231 2014
28
Eosinophils in hereditary and inflammatory myopathies. 61
24803842 2013
29
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. 61
23606453 2013
30
ANO5 mutations in the Dutch limb girdle muscular dystrophy population. 61
23607914 2013
31
Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. 61
22742934 2012
32
LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease. 61
23055322 2012
33
Muscle MRI findings in limb girdle muscular dystrophy type 2L. 61
22980763 2012
34
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies. 61
23035061 2012
35
Novel ANO5 mutations causing hyper-CK-emia, limb girdle muscular weakness and Miyoshi type of muscular dystrophy. 61
22499103 2012
36
[Muscular dystrophy due to mutations in anoctamin 5: clinical and molecular genetic findings]. 61
21739273 2011
37
Other limb-girdle muscular dystrophies. 61
21496628 2011
38
[Fukuyama congenital muscular dystrophy and related alpha-dystroglycanopathies]. 61
18975603 2008
39
Muscular dystrophies due to glycosylation defects. 61
19019316 2008
40
Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. 61
17044012 2006

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12:

6 (show top 50) (show all 137) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ANO5 NM_213599.2(ANO5):c.1520del (p.Phe507fs)deletion Pathogenic 194577 rs794727158 11:22281176-22281176 11:22259630-22259630
2 ANO5 NM_213599.2(ANO5):c.1898+1G>ASNV Pathogenic 194805 rs142027093 11:22284590-22284590 11:22263044-22263044
3 ANO5 NM_213599.2(ANO5):c.1210C>T (p.Arg404Ter)SNV Pathogenic 217143 rs566415362 11:22276946-22276946 11:22255400-22255400
4 ANO5 NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly)SNV Pathogenic 2163 rs137854524 11:22277031-22277031 11:22255485-22255485
5 ANO5 NM_213599.2(ANO5):c.2018A>G (p.Tyr673Cys)SNV Pathogenic 140555 rs137854527 11:22291977-22291977 11:22270431-22270431
6 ANO5 NM_213599.2(ANO5):c.304_308del (p.Lys102fs)deletion Pathogenic 280322 rs776859202 11:22247535-22247539 11:22225989-22225993
7 ANO5 NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys)SNV Pathogenic 2166 rs137854529 11:22296151-22296151 11:22274605-22274605
8 ANO5 NM_213599.2(ANO5):c.1407+5G>ASNV Pathogenic 39276 rs281865464 11:22279305-22279305 11:22257759-22257759
9 ANO5 NM_001142649.2(ANO5):c.2304_2305CA[2] (p.Gln770fs)short repeat Pathogenic 39277 rs137854528 11:22296186-22296187 11:22274640-22274641
10 ANO5 ANO5, IVS14DS, G-A, +5SNV Pathogenic 39750
11 ANO5 NM_213599.2(ANO5):c.41-1G>ASNV Pathogenic 96685 rs398124625 11:22225349-22225349 11:22203803-22203803
12 ANO5 NM_001142649.2(ANO5):c.986dup (p.Leu329fs)duplication Pathogenic 96688 rs398124626 11:22271891-22271892 11:22250345-22250346
13 ANO5 NM_213599.2(ANO5):c.2004del (p.Leu669fs)deletion Pathogenic 285669 rs886043172 11:22291961-22291961 11:22270415-22270415
14 ANO5 NM_213599.2(ANO5):c.1627dup (p.Met543fs)duplication Pathogenic 285942 rs281865480 11:22281279-22281280 11:22259733-22259734
15 ANO5 NM_213599.2(ANO5):c.299del (p.Arg100fs)deletion Pathogenic 418672 rs1064793358 11:22247534-22247534 11:22225988-22225988
16 ANO5 NM_213599.2(ANO5):c.1409T>G (p.Met470Arg)SNV Pathogenic 446703 rs1403946332 11:22281066-22281066 11:22259520-22259520
17 ANO5 NM_213599.2(ANO5):c.813C>G (p.Tyr271Ter)SNV Pathogenic 468826 rs1380525804 11:22261165-22261165 11:22239619-22239619
18 ANO5 NM_213599.2(ANO5):c.148C>T (p.Arg50Ter)SNV Pathogenic 468825 rs1168346560 11:22239801-22239801 11:22218255-22218255
19 ANO5 NM_213599.2(ANO5):c.412G>T (p.Glu138Ter)SNV Pathogenic 468828 rs1554924356 11:22248896-22248896 11:22227350-22227350
20 ANO5 NM_213599.2(ANO5):c.220C>T (p.Arg74Ter)SNV Pathogenic 536729 rs749645231 11:22242682-22242682 11:22221136-22221136
21 ANO5 NM_213599.2(ANO5):c.1737dup (p.Gly580fs)duplication Pathogenic 578516 rs759064817 11:22283778-22283779 11:22262232-22262233
22 ANO5 NM_213599.2(ANO5):c.1158del (p.Phe386fs)deletion Pathogenic 619026 rs1564936489 11:22272533-22272533 11:22250987-22250987
23 ANO5 NM_213599.2(ANO5):c.775A>T (p.Lys259Ter)SNV Pathogenic 650336 11:22261127-22261127 11:22239581-22239581
24 ANO5 NM_213599.2(ANO5):c.873_876del (p.Ile292fs)deletion Pathogenic 644214 11:22261223-22261226 11:22239677-22239680
25 ANO5 NM_213599.2(ANO5):c.1755T>A (p.Tyr585Ter)SNV Pathogenic 694036 11:22283799-22283799 11:22262253-22262253
26 ANO5 NM_213599.2(ANO5):c.1359C>G (p.Tyr453Ter)SNV Pathogenic 694040 11:22279252-22279252 11:22257706-22257706
27 ANO5 NM_213599.2(ANO5):c.1767C>A (p.Tyr589Ter)SNV Pathogenic/Likely pathogenic 502588 rs188150039 11:22283811-22283811 11:22262265-22262265
28 ANO5 NM_213599.2(ANO5):c.1088G>A (p.Trp363Ter)SNV Pathogenic/Likely pathogenic 504242 rs1554929301 11:22272361-22272361 11:22250815-22250815
29 ANO5 NM_213599.2(ANO5):c.1120-1G>ASNV Pathogenic/Likely pathogenic 536726 rs561719071 11:22272496-22272496 11:22250950-22250950
30 ANO5 NM_213599.2(ANO5):c.1213C>T (p.Gln405Ter)SNV Pathogenic/Likely pathogenic 285742 rs368970223 11:22276949-22276949 11:22255403-22255403
31 ANO5 NM_213599.2(ANO5):c.139-1deldeletion Pathogenic/Likely pathogenic 286467 rs868484837 11:22239791-22239791 11:22218245-22218245
32 ANO5 NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter)SNV Pathogenic/Likely pathogenic 288832 rs747719953 11:22283683-22283683 11:22262137-22262137
33 ANO5 NM_213599.2(ANO5):c.762+1G>ASNV Pathogenic/Likely pathogenic 217144 rs372221490 11:22257823-22257823 11:22236277-22236277
34 ANO5 NM_213599.2(ANO5):c.1733T>C (p.Phe578Ser)SNV Pathogenic/Likely pathogenic 140553 rs137854526 11:22283777-22283777 11:22262231-22262231
35 ANO5 NM_001142649.2(ANO5):c.188dup (p.Asn63fs)duplication Pathogenic/Likely pathogenic 2164 rs137854521 11:22242646-22242647 11:22221100-22221101
36 ANO5 NM_213599.2(ANO5):c.692G>T (p.Gly231Val)SNV Pathogenic/Likely pathogenic 2165 rs137854523 11:22257752-22257752 11:22236206-22236206
37 ANO5 NM_213599.2(ANO5):c.352del (p.Glu118fs)deletion Likely pathogenic 224667 rs878854367 11:22247587-22247587 11:22226041-22226041
38 ANO5 NM_213599.2(ANO5):c.649-2A>GSNV Likely pathogenic 548990 rs773736505 11:22257707-22257707 11:22236161-22236161
39 ANO5 NM_213599.2(ANO5):c.1261C>T (p.Gln421Ter)SNV Likely pathogenic 549501 rs1554930314 11:22276997-22276997 11:22255451-22255451
40 ANO5 NC_000011.9:g.(?_22294310)_(22297765_?)deldeletion Likely pathogenic 583864 11:22294310-22297765 11:22272764-22276219
41 ANO5 NM_213599.2(ANO5):c.295-1G>ASNV Likely pathogenic 569608 rs780109230 11:22247529-22247529 11:22225983-22225983
42 ANO5 NC_000011.9:g.(?_22239792)_(22242756_?)deldeletion Likely pathogenic 584414 11:22239792-22242756 11:22218246-22221210
43 ANO5 NM_213599.2(ANO5):c.18C>T (p.Leu6=)SNV Conflicting interpretations of pathogenicity 468835 rs1257688225 11:22215056-22215056 11:22193510-22193510
44 ANO5 NM_213599.2(ANO5):c.2503_2505del (p.Phe835del)deletion Conflicting interpretations of pathogenicity 195634 rs794727350 11:22297727-22297729 11:22276181-22276183
45 ANO5 NM_213599.2(ANO5):c.2521C>G (p.His841Asp)SNV Conflicting interpretations of pathogenicity 195705 rs781027702 11:22301090-22301090 11:22279544-22279544
46 ANO5 NM_213599.2(ANO5):c.172C>T (p.Arg58Trp)SNV Conflicting interpretations of pathogenicity 197402 rs201725369 11:22239825-22239825 11:22218279-22218279
47 ANO5 NM_213599.2(ANO5):c.2498T>A (p.Met833Lys)SNV Conflicting interpretations of pathogenicity 285338 rs142073798 11:22297723-22297723 11:22276177-22276177
48 ANO5 NM_213599.2(ANO5):c.2521-1deldeletion Conflicting interpretations of pathogenicity 283199 rs752982710 11:22301089-22301089 11:22279543-22279543
49 ANO5 NM_213599.2(ANO5):c.1538C>T (p.Thr513Ile)SNV Conflicting interpretations of pathogenicity 288853 rs281865467 11:22281195-22281195 11:22259649-22259649
50 ANO5 NM_213599.2(ANO5):c.1962A>G (p.Arg654=)SNV Conflicting interpretations of pathogenicity 384498 rs1057521970 11:22291921-22291921 11:22270375-22270375

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

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Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12

3 CDC
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30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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44 MESH via Orphanet
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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