PLEC (plectin) - Rat Genome Database

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Gene: PLEC (plectin) Homo sapiens
Analyze
Symbol: PLEC
Name: plectin
RGD ID: 731690
HGNC Page HGNC:9069
Description: Enables ankyrin binding activity. A structural constituent of muscle. Involved in hemidesmosome assembly. Located in several cellular components, including focal adhesion; hemidesmosome; and sarcolemma. Implicated in autosomal recessive limb-girdle muscular dystrophy type 2Q; epidermolysis bullosa simplex; epidermolysis bullosa simplex Ogna type; and epidermolysis bullosa simplex with muscular dystrophy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: EBS1; EBS5A; EBS5B; EBS5C; EBS5D; EBSMD; EBSND; EBSO; EBSOG; EBSPA; epidermolysis bullosa simplex 1 (Ogna); HD1; hemidesmosomal protein 1; LGMD2Q; LGMDR17; PCN; PLEC1; PLEC1b; plectin 1, intermediate filament binding protein 500kDa; plectin-1; PLTN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100418700  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,915,153 - 143,976,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,915,153 - 143,976,734 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,989,321 - 145,050,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,061,309 - 145,121,531 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,061,308 - 145,121,531NCBI
Celera8141,303,490 - 141,364,268 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,243,473 - 140,304,261 (-)NCBIHuRef
CHM1_18145,029,546 - 145,091,031 (-)NCBICHM1_1
T2T-CHM13v2.08145,073,432 - 145,135,033 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(-)-epigallocatechin 3-gallate  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
adefovir pivoxil  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
butan-1-ol  (EXP)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
caffeine  (EXP)
cannabidiol  (EXP)
chloroacetaldehyde  (EXP)
cidofovir anhydrous  (EXP)
cisplatin  (EXP)
clodronic acid  (EXP)
cocaine  (ISO)
copper(II) sulfate  (EXP)
coumarin  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
deoxynivalenol  (ISO)
dexamethasone  (EXP)
dichlorine  (ISO)
dicrotophos  (EXP)
dioxygen  (EXP)
disodium selenite  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
fenthion  (ISO)
finasteride  (ISO)
fluoxetine  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
genistein  (EXP,ISO)
gentamycin  (ISO)
glyphosate  (ISO)
hexadecanoic acid  (EXP)
hydrogen peroxide  (EXP,ISO)
ibuprofen  (EXP)
indometacin  (EXP)
isobutanol  (EXP)
ivermectin  (EXP)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
methamphetamine  (ISO)
methidathion  (ISO)
methoxychlor  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosomorpholine  (ISO)
nickel sulfate  (EXP)
niclosamide  (EXP)
ozone  (EXP,ISO)
paracetamol  (EXP,ISO)
phenytoin  (ISO)
pinostrobin  (EXP)
piperonyl butoxide  (ISO)
progesterone  (EXP)
propiconazole  (ISO)
quercetin  (EXP)
resveratrol  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sulindac  (ISO)
tamoxifen  (EXP)
thapsigargin  (ISO)
titanium dioxide  (EXP,ISO)
Tributyltin oxide  (ISO)
trichloroethene  (EXP,ISO)
triclosan  (EXP)
Triptolide  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vancomycin  (ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
actin cytoskeleton organization  (IEA)
actin filament organization  (IEA)
actomyosin contractile ring assembly actin filament organization  (IEA)
adherens junction organization  (IEA)
cardiac muscle cell development  (IEA)
cell morphogenesis  (IEA)
cell motility  (IEA)
cellular response to fluid shear stress  (IEA)
cellular response to hydrostatic pressure  (IEA)
cellular response to mechanical stimulus  (IEA)
epithelial cell differentiation  (ISO)
establishment of skin barrier  (IEA)
female pregnancy  (ISO)
fibroblast migration  (IEA)
gene expression  (IEA)
hemidesmosome assembly  (IBA,IDA)
intermediate filament cytoskeleton organization  (IBA,IEA)
intermediate filament organization  (IEA)
keratinocyte development  (IEA)
keratinocyte differentiation  (IEA)
leukocyte migration involved in immune response  (IEA)
mitochondrion organization  (IEA)
multicellular organism growth  (IEA)
myelination in peripheral nervous system  (IEA)
myoblast differentiation  (IEA)
nucleus organization  (IEA)
obsolete cellular response to extracellular stimulus  (IEA)
peripheral nervous system myelin maintenance  (IEA)
protein localization  (IEA)
protein-containing complex organization  (IEA)
regulation of vascular permeability  (IEA)
respiratory electron transport chain  (IEA)
response to food  (IEA)
response to nutrient  (ISO)
sarcomere organization  (IEA)
skeletal muscle fiber development  (IEA)
skeletal muscle tissue development  (IEA)
skeletal myofibril assembly  (IEA)
skin development  (IEA)
T cell chemotaxis  (IEA)
tight junction organization  (IEA)
transmission of nerve impulse  (IEA)
wound healing  (IBA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal blistering of the skin  (IAGP)
Abnormal dental enamel morphology  (IAGP)
Abnormal heart morphology  (IAGP)
Abnormality of bone mineral density  (IAGP)
Abnormality of the abdominal organs  (IAGP)
Abnormality of the cardiovascular system  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the musculature  (IAGP)
Abnormality of the respiratory system  (IAGP)
Abnormality of the skin  (IAGP)
Abnormality of the urethra  (IAGP)
Abnormality of the urinary system  (IAGP)
Achilles tendon contracture  (IAGP)
Acral blistering  (IAGP)
Alopecia  (IAGP)
Anemia  (IAGP)
Anonychia  (IAGP)
Anteverted nares  (IAGP)
Anti-acetylcholine receptor antibody positivity  (IAGP)
Aphasia  (IAGP)
Aplasia cutis congenita  (IAGP)
Aplasia cutis congenita of scalp  (IAGP)
Aplasia cutis congenita on trunk or limbs  (IAGP)
Aplasia cutis congenita over the scalp vertex  (IAGP)
Aplasia of the bladder  (IAGP)
Aplasia/Hypoplasia of the skin  (IAGP)
Areflexia  (IAGP)
Arrhinencephaly  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Atelectasis  (IAGP)
Atrophic scars  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle atrophy  (IAGP)
Axillary pterygium  (IAGP)
Bilateral facial palsy  (IAGP)
Bilateral ptosis  (IAGP)
Bronchiolitis  (IAGP)
Bruising susceptibility  (IAGP)
Calf muscle hypertrophy  (IAGP)
Calvarial skull defect  (IAGP)
Carious teeth  (IAGP)
Childhood onset  (IAGP)
Congenital localized absence of skin  (IAGP)
Congenital onset  (IAGP)
Congenital pyloric atresia  (IAGP)
Death in infancy  (IAGP)
Decreased cervical spine flexion due to contractures of posterior cervical muscles  (IAGP)
Deeply set eye  (IAGP)
Delayed gross motor development  (IAGP)
Dermal atrophy  (IAGP)
Difficulty climbing stairs  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Dysphagia  (IAGP)
Echolalia  (IAGP)
Ectropion  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Enamel hypoplasia  (IAGP)
Erythema  (IAGP)
Esophageal atresia  (IAGP)
Exertional dyspnea  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness  (IAGP)
Fatigue  (IAGP)
Fetal onset  (IAGP)
Finger syndactyly  (IAGP)
Flexion contracture  (IAGP)
Fragile skin  (IAGP)
Frequent falls  (IAGP)
Generalized muscle weakness  (IAGP)
Global developmental delay  (IAGP)
Glomerular sclerosis  (IAGP)
Gowers sign  (IAGP)
Holoprosencephaly  (IAGP)
Hydronephrosis  (IAGP)
Hyperconvex fingernails  (IAGP)
Hypermelanotic macule  (IAGP)
Hypernasal speech  (IAGP)
Hypopigmented macule  (IAGP)
Hypoplastic dermoepidermal hemidesmosomes  (IAGP)
Hypoplastic fingernail  (IAGP)
Ichthyosis  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased connective tissue  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Intra-epidermal blistering  (IAGP)
Intractable diarrhea  (IAGP)
Keratitis  (IAGP)
Lamina lucida cleavage  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Loss of ambulation  (IAGP)
Lumbar hyperlordosis  (IAGP)
Macrocephaly  (IAGP)
Microtia  (IAGP)
Milia  (IAGP)
Motheaten muscle fibers  (IAGP)
Motor delay  (IAGP)
Muscle fiber splitting  (IAGP)
Muscle flaccidity  (IAGP)
Muscular dystrophy  (IAGP)
Mutism  (IAGP)
Myopathy  (IAGP)
Nail dysplasia  (IAGP)
Nail dystrophy  (IAGP)
Neonatal death  (IAGP)
Neonatal respiratory distress  (IAGP)
Oculomotor nerve palsy  (IAGP)
Onychogryposis of toenails  (IAGP)
Ophthalmoparesis  (IAGP)
Ophthalmoplegia  (IAGP)
Oral mucosal blisters  (IAGP)
Palmoplantar blistering  (IAGP)
Palmoplantar hyperkeratosis  (IAGP)
Palmoplantar keratoderma  (IAGP)
Papule  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Plantar hyperkeratosis  (IAGP)
Polyhydramnios  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Prolonged bleeding time  (IAGP)
Proximal muscle weakness  (IAGP)
Proximal upper limb muscle hypertrophy  (IAGP)
Pruritus  (IAGP)
Ptosis  (IAGP)
Pulmonary fibrosis  (IAGP)
Punctate keratitis  (IAGP)
Rapidly progressive  (IAGP)
Renal duplication  (IAGP)
Renal dysplasia  (IAGP)
Right bundle branch block  (IAGP)
Scarring alopecia of scalp  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skin erosion  (IAGP)
Skin fragility with non-scarring blistering  (IAGP)
Skin ulcer  (IAGP)
Skin vesicle  (IAGP)
Spinal dysraphism  (IAGP)
Stratum basale cleavage  (IAGP)
Tactile hypersensitivity  (IAGP)
Toe syndactyly  (IAGP)
Underdeveloped nasal alae  (IAGP)
Ureterocele  (IAGP)
Urethral stricture  (IAGP)
Urethrovesical occlusion  (IAGP)
Vomiting  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
2. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Pulkkinen L, etal., Hum Mol Genet. 1996 Oct;5(10):1539-46.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:2023931   PMID:3027087   PMID:8626512   PMID:8633055   PMID:8636409   PMID:8696340   PMID:8698233   PMID:8830774   PMID:8889548   PMID:8895530   PMID:8941634   PMID:9177781  
PMID:9701547   PMID:9808630   PMID:10446808   PMID:10525545   PMID:10556294   PMID:10637308   PMID:10780662   PMID:10811835   PMID:10891503   PMID:11159198   PMID:11172097   PMID:11328943  
PMID:11441066   PMID:11851880   PMID:11854008   PMID:12136158   PMID:12477932   PMID:12482924   PMID:12542521   PMID:12577067   PMID:12791251   PMID:12802069   PMID:14559777   PMID:14668477  
PMID:14672974   PMID:14966116   PMID:15231748   PMID:15302935   PMID:15342556   PMID:15500642   PMID:15592455   PMID:15635413   PMID:15654962   PMID:15810881   PMID:15817481   PMID:15951569  
PMID:16009940   PMID:16083285   PMID:16097034   PMID:16159877   PMID:16507904   PMID:16565220   PMID:16757171   PMID:16944923   PMID:17081983   PMID:17361185   PMID:17389230   PMID:17397861  
PMID:17499243   PMID:17515952   PMID:17662978   PMID:18029348   PMID:18084872   PMID:18155192   PMID:18541706   PMID:18827015   PMID:19165527   PMID:19199708   PMID:19242489   PMID:19366731  
PMID:19615732   PMID:19709076   PMID:19725029   PMID:19738201   PMID:19932097   PMID:19945614   PMID:20016501   PMID:20052759   PMID:20301304   PMID:20301336   PMID:20301347   PMID:20301543  
PMID:20301582   PMID:20447487   PMID:20467437   PMID:20471030   PMID:20665883   PMID:20686565   PMID:20797700   PMID:20842667   PMID:20876399   PMID:20936779   PMID:21109228   PMID:21145461  
PMID:21175599   PMID:21182205   PMID:21223964   PMID:21288893   PMID:21319273   PMID:21420381   PMID:21423176   PMID:21424933   PMID:21469503   PMID:21743296   PMID:21821021   PMID:21873635  
PMID:21951318   PMID:22139419   PMID:22199357   PMID:22240165   PMID:22245045   PMID:22266860   PMID:22333906   PMID:22586326   PMID:22623428   PMID:22658674   PMID:22863883   PMID:22939629  
PMID:23182705   PMID:23289980   PMID:23376485   PMID:23383273   PMID:23398456   PMID:23414517   PMID:23438482   PMID:23717685   PMID:23774525   PMID:23824909   PMID:23858473   PMID:23874603  
PMID:23921385   PMID:23969696   PMID:23979707   PMID:24097068   PMID:24218614   PMID:24457600   PMID:24711643   PMID:24923560   PMID:24940650   PMID:24981860   PMID:25332235   PMID:25468996  
PMID:25556389   PMID:25670202   PMID:25712130   PMID:25959826   PMID:25963833   PMID:26186194   PMID:26209609   PMID:26217791   PMID:26344197   PMID:26460568   PMID:26496610   PMID:26527396  
PMID:26561776   PMID:26618866   PMID:26831064   PMID:26933062   PMID:27129302   PMID:27173435   PMID:27371349   PMID:27413182   PMID:27542412   PMID:27545878   PMID:27566071   PMID:27576135  
PMID:27591049   PMID:27813154   PMID:28190767   PMID:28378594   PMID:28447722   PMID:28514442   PMID:28515276   PMID:28718761   PMID:29128334   PMID:29162697   PMID:29180619   PMID:29467282  
PMID:29478914   PMID:29507755   PMID:29511261   PMID:29735542   PMID:29761480   PMID:29797489   PMID:29934401   PMID:30021884   PMID:30026490   PMID:30161220   PMID:30196744   PMID:30258100  
PMID:30309841   PMID:30344098   PMID:30463901   PMID:30561431   PMID:30575818   PMID:30730609   PMID:30745168   PMID:30991875   PMID:31010829   PMID:31067453   PMID:31073027   PMID:31091453  
PMID:31180492   PMID:31184804   PMID:31300519   PMID:31324722   PMID:31343991   PMID:31353912   PMID:31586073   PMID:31796584   PMID:31980649   PMID:32051585   PMID:32129710   PMID:32203420  
PMID:32416067   PMID:32433965   PMID:32552912   PMID:32580029   PMID:32605089   PMID:32665550   PMID:32707033   PMID:32780723   PMID:32786267   PMID:32801337   PMID:32814053   PMID:32850835  
PMID:32905556   PMID:33005030   PMID:33022573   PMID:33024031   PMID:33029523   PMID:33111431   PMID:33194618   PMID:33219316   PMID:33239621   PMID:33397691   PMID:33462405   PMID:33644029  
PMID:33658012   PMID:33762435   PMID:33961781   PMID:34079125   PMID:34185411   PMID:34244482   PMID:34299191   PMID:34537242   PMID:34571895   PMID:34645483   PMID:34709266   PMID:34709727  
PMID:34728620   PMID:35013218   PMID:35031058   PMID:35044719   PMID:35080691   PMID:35122331   PMID:35139142   PMID:35256949   PMID:35271311   PMID:35446349   PMID:35474131   PMID:35509820  
PMID:35563538   PMID:35568845   PMID:35579050   PMID:35654790   PMID:35676659   PMID:35748872   PMID:35815343   PMID:35819319   PMID:35831314   PMID:35914814   PMID:35941108   PMID:35944360  
PMID:35973989   PMID:36042349   PMID:36123327   PMID:36215168   PMID:36217030   PMID:36232890   PMID:36243803   PMID:36244648   PMID:36424410   PMID:36517590   PMID:36526897   PMID:36574265  
PMID:36613521   PMID:36736316   PMID:36762613   PMID:36931259   PMID:37120454   PMID:37174658   PMID:37262182   PMID:37348651   PMID:37393735   PMID:37616343   PMID:37632650   PMID:37716646  
PMID:37827155   PMID:38247853   PMID:38322534  


Genomics

Comparative Map Data
PLEC
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388143,915,153 - 143,976,745 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8143,915,153 - 143,976,734 (-)EnsemblGRCh38hg38GRCh38
GRCh378144,989,321 - 145,050,913 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368145,061,309 - 145,121,531 (-)NCBINCBI36Build 36hg18NCBI36
Build 348145,061,308 - 145,121,531NCBI
Celera8141,303,490 - 141,364,268 (-)NCBICelera
Cytogenetic Map8q24.3NCBI
HuRef8140,243,473 - 140,304,261 (-)NCBIHuRef
CHM1_18145,029,546 - 145,091,031 (-)NCBICHM1_1
T2T-CHM13v2.08145,073,432 - 145,135,033 (-)NCBIT2T-CHM13v2.0
Plec
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391576,055,174 - 76,115,578 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1576,055,174 - 76,116,774 (-)EnsemblGRCm39 Ensembl
GRCm381576,170,974 - 76,231,378 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1576,170,974 - 76,232,574 (-)EnsemblGRCm38mm10GRCm38
MGSCv371576,001,404 - 76,061,808 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361575,998,231 - 76,058,633 (-)NCBIMGSCv36mm8
Celera1577,670,771 - 77,731,324 (-)NCBICelera
Cytogenetic Map15D3NCBI
cM Map1535.48NCBI
Plec
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87109,768,447 - 109,829,798 (-)NCBIGRCr8
mRatBN7.27107,887,764 - 107,949,100 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7107,887,764 - 107,945,467 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7109,631,418 - 109,690,909 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07111,855,099 - 111,914,591 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07111,813,628 - 111,873,076 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07117,230,319 - 117,291,859 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7117,230,319 - 117,289,961 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07117,215,919 - 117,277,093 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47114,202,742 - 114,262,385 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17114,236,973 - 114,271,955 (-)NCBI
Celera7104,240,654 - 104,299,857 (-)NCBICelera
Cytogenetic Map7q34NCBI
Plec
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554542,583,138 - 2,643,211 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554542,583,138 - 2,644,308 (-)NCBIChiLan1.0ChiLan1.0
PLEC
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27161,404,304 - 161,465,828 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18136,934,031 - 136,995,506 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08140,681,252 - 140,742,753 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18143,673,672 - 143,711,211 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8143,674,696 - 143,712,433 (-)Ensemblpanpan1.1panPan2
PLEC
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11337,449,379 - 37,503,752 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1337,450,248 - 37,513,523 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1337,413,420 - 37,467,660 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01337,924,192 - 37,980,292 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1337,872,891 - 37,979,994 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11337,599,296 - 37,631,689 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01337,726,376 - 37,780,585 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01338,203,929 - 38,236,330 (-)NCBIUU_Cfam_GSD_1.0
LOC101957084
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303756,507 - 826,040 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364708,216,205 - 8,250,978 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364708,194,124 - 8,252,139 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PLEC
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl4689,034 - 753,696 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.14696,355 - 753,859 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
PLEC
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18138,125,471 - 138,187,209 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8138,125,280 - 138,149,364 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660391,686,663 - 1,748,404 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0

Variants

.
Variants in PLEC
5338 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_201384.3(PLEC):c.5444G>T (p.Arg1815Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000554623] Chr8:143924485 [GRCh38]
Chr8:144998653 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1301G>A (p.Arg434Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000548451]|not provided [RCV000596490] Chr8:143933314 [GRCh38]
Chr8:145007482 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.12218A>G (p.Asp4073Gly) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542665] Chr8:143917603 [GRCh38]
Chr8:144991771 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6819G>A (p.Met2273Ile) single nucleotide variant not provided [RCV000519789] Chr8:143923110 [GRCh38]
Chr8:144997278 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7537_7538delinsGC (p.Lys2513Ala) indel not specified [RCV000519826] Chr8:143922283..143922284 [GRCh38]
Chr8:144996451..144996452 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5850C>T (p.Arg1950=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000529890] Chr8:143924079 [GRCh38]
Chr8:144998247 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.4648C>T (p.Arg1550Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000810249]|Inborn genetic diseases [RCV002527635]|not provided [RCV000727716] Chr8:143925281 [GRCh38]
Chr8:144999449 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8320G>A (p.Val2774Ile) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001045987]|not provided [RCV000522422] Chr8:143921501 [GRCh38]
Chr8:144995669 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.9380G>A (p.Arg3127Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000552943]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002483468] Chr8:143920441 [GRCh38]
Chr8:144994609 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3442G>T (p.Ala1148Ser) single nucleotide variant not specified [RCV000518583] Chr8:143927724 [GRCh38]
Chr8:145001892 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4830_4859dup (p.Arg1613_Arg1622dup) duplication not provided [RCV000521690] Chr8:143925069..143925070 [GRCh38]
Chr8:144999237..144999238 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2875G>A (p.Gly959Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000544043] Chr8:143929694 [GRCh38]
Chr8:145003862 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.10532G>A (p.Gly3511Asp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001067129]|Inborn genetic diseases [RCV002525206]|not provided [RCV000727854] Chr8:143919289 [GRCh38]
Chr8:144993457 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11000G>T (p.Arg3667Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648528]|Inborn genetic diseases [RCV002525136]|not provided [RCV000727000] Chr8:143918821 [GRCh38]
Chr8:144992989 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2996G>A (p.Cys999Tyr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547665]|Inborn genetic diseases [RCV002530079]|not provided [RCV003129908] Chr8:143929499 [GRCh38]
Chr8:145003667 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7696G>A (p.Val2566Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000549938]|not provided [RCV000519512] Chr8:143922125 [GRCh38]
Chr8:144996293 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000445.5(PLEC):c.158T>C (p.Leu53Pro) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000705780]|not specified [RCV000516568] Chr8:143975212 [GRCh38]
Chr8:145049380 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3970A>C (p.Ser1324Arg) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000816472]|not specified [RCV000516710] Chr8:143926858 [GRCh38]
Chr8:145001026 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2833G>A (p.Gly945Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000544829]|not provided [RCV000727749] Chr8:143929736 [GRCh38]
Chr8:145003904 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.9874G>A (p.Val3292Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525550] Chr8:143919947 [GRCh38]
Chr8:144994115 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8454C>T (p.Pro2818=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000528040]|not provided [RCV000731692] Chr8:143921367 [GRCh38]
Chr8:144995535 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.3125G>A (p.Arg1042Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551440]|not provided [RCV003129909] Chr8:143929238 [GRCh38]
Chr8:145003406 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000445.5(PLEC):c.128G>T (p.Gly43Val) single nucleotide variant not provided [RCV000712721] Chr8:143975242 [GRCh38]
Chr8:145049410 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5103G>A (p.Ala1701=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000529488]|not provided [RCV000603911] Chr8:143924826 [GRCh38]
Chr8:144998994 [GRCh37]
Chr8:8q24.3
likely benign
NM_201378.4(PLEC):c.71-11768C>T single nucleotide variant not specified [RCV000518712] Chr8:143950460 [GRCh38]
Chr8:145024628 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.10560C>G (p.Asn3520Lys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000546785] Chr8:143919261 [GRCh38]
Chr8:144993429 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.12030C>T (p.Ala4010=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000968814]|not specified [RCV000516856] Chr8:143917791 [GRCh38]
Chr8:144991959 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000553328]|not provided [RCV000727531]|not specified [RCV000595655] Chr8:143923287 [GRCh38]
Chr8:144997455 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2699G>A (p.Arg900His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000553349]|not provided [RCV003129907] Chr8:143929976 [GRCh38]
Chr8:145004144 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2736C>T (p.Ala912=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542338] Chr8:143929939 [GRCh38]
Chr8:145004107 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.12776G>A (p.Ser4259Asn) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000550546] Chr8:143917045 [GRCh38]
Chr8:144991213 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3356C>T (p.Pro1119Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000531462]|not provided [RCV000712734] Chr8:143927897 [GRCh38]
Chr8:145002065 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.12267C>T (p.Gly4089=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000543054]|not specified [RCV000601606] Chr8:143917554 [GRCh38]
Chr8:144991722 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.835C>T (p.Leu279=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551140] Chr8:143934920 [GRCh38]
Chr8:145009088 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.7278G>T (p.Glu2426Asp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551167] Chr8:143922651 [GRCh38]
Chr8:144996819 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7334C>T (p.Ala2445Val) single nucleotide variant not provided [RCV000521360] Chr8:143922595 [GRCh38]
Chr8:144996763 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.9815G>A (p.Arg3272His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001045475]|not provided [RCV000734365]|not specified [RCV000517428] Chr8:143920006 [GRCh38]
Chr8:144994174 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.12628G>A (p.Ala4210Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000531697]|PLEC-related condition [RCV003980001]|not provided [RCV001562736]|not specified [RCV000597880] Chr8:143917193 [GRCh38]
Chr8:144991361 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.1721G>A (p.Arg574Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525697]|not provided [RCV003129906] Chr8:143932809 [GRCh38]
Chr8:145006977 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.10831G>A (p.Gly3611Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001851499]|not provided [RCV000519893] Chr8:143918990 [GRCh38]
Chr8:144993158 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6074G>A (p.Arg2025Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001325949]|not provided [RCV003129882]|not specified [RCV000518113] Chr8:143923855 [GRCh38]
Chr8:144998023 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.58A>G (p.Ser20Gly) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002490888]|PLEC-related condition [RCV003979928]|not provided [RCV000516226] Chr8:143939404 [GRCh38]
Chr8:145013572 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.7407G>T (p.Leu2469=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000532472] Chr8:143922522 [GRCh38]
Chr8:144996690 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.7343T>A (p.Leu2448Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000554956] Chr8:143922586 [GRCh38]
Chr8:144996754 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.792C>T (p.Arg264=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001084112]|not provided [RCV000727740] Chr8:143935044 [GRCh38]
Chr8:145009212 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201378.4(PLEC):c.71-11923G>A single nucleotide variant not provided [RCV001702668]|not specified [RCV000516360] Chr8:143950615 [GRCh38]
Chr8:145024783 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081655]|not provided [RCV000726855]|not specified [RCV000518288] Chr8:143926870 [GRCh38]
Chr8:145001038 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4435C>G (p.Arg1479Gly) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000552591] Chr8:143925494 [GRCh38]
Chr8:144999662 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1169+9_1169+21del deletion Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002530075] Chr8:143934297..143934309 [GRCh38]
Chr8:145008465..145008477 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.7633C>T (p.Arg2545Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001300845]|not provided [RCV000523715] Chr8:143922188 [GRCh38]
Chr8:144996356 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1125G>A (p.Val375=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000555129] Chr8:143934362 [GRCh38]
Chr8:145008530 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.3344C>T (p.Ala1115Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000532691] Chr8:143927909 [GRCh38]
Chr8:145002077 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2768G>A (p.Arg923His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000546174]|not provided [RCV000731798] Chr8:143929801 [GRCh38]
Chr8:145003969 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.10830C>T (p.Ala3610=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000872448]|PLEC-related condition [RCV003960219]|not provided [RCV001591168]|not specified [RCV000518565] Chr8:143918991 [GRCh38]
Chr8:144993159 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201378.4(PLEC):c.1_9del (p.Met1_Gly3del) deletion Abnormality of the musculature [RCV001814009]|Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV000023089] Chr8:143973464..143973472 [GRCh38]
Chr8:145047632..145047640 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_201384.3(PLEC):c.11962dup (p.Glu3988fs) duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000023090] Chr8:143917858..143917859 [GRCh38]
Chr8:144992026..144992027 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.6088C>T (p.Gln2030Ter) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000023091] Chr8:143923841 [GRCh38]
Chr8:144998009 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.6874C>T (p.Arg2292Ter) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000023092]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001387924]|Epidermolysis bullosa simplex with nail dystrophy [RCV002273816]|not provided [RCV001007967] Chr8:143923055 [GRCh38]
Chr8:144997223 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.5775_5782dup (p.Leu1928fs) duplication Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000008747] Chr8:143924146..143924147 [GRCh38]
Chr8:144998314..144998315 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.2587CAGGAGGCC[1] (p.863QEA[1]) microsatellite Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000008748]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001383874]|Epidermolysis bullosa simplex with nail dystrophy [RCV002247277]|not provided [RCV000274705] Chr8:143930152..143930160 [GRCh38]
Chr8:145004320..145004328 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5734del (p.Leu1912fs) deletion Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000008749] Chr8:143924195 [GRCh38]
Chr8:144998363 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.5024_5031del (p.Arg1675fs) microsatellite Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000008750] Chr8:143924898..143924905 [GRCh38]
Chr8:144999066..144999073 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.5917C>T (p.Arg1973Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001381863]|Epidermolysis bullosa simplex, Ogna type [RCV000008751]|Simplex epidermolysis bullosa_Ogna type [RCV001352838]|not provided [RCV000519116] Chr8:143924012 [GRCh38]
Chr8:144998180 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.2600_2612+1del deletion Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV000008752] Chr8:143930143..143930156 [GRCh38]
Chr8:145004311..145004324 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.832C>T (p.Gln278Ter) single nucleotide variant Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV000008753] Chr8:143934923 [GRCh38]
Chr8:145009091 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.1263G>A (p.Ser421=) single nucleotide variant Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV000008754] Chr8:143933998 [GRCh38]
Chr8:145008166 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.9004C>T (p.Arg3002Ter) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001851744]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV000008755] Chr8:143920817 [GRCh38]
Chr8:144994985 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.4864C>T (p.Arg1622Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542528]|PLEC-related condition [RCV003419978] Chr8:143925065 [GRCh38]
Chr8:144999233 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000543341]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001335327]|PLEC-related condition [RCV003960361]|not provided [RCV000727828] Chr8:143923586 [GRCh38]
Chr8:144997754 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.477G>A (p.Thr159=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001399700]|not provided [RCV000727704] Chr8:143935973 [GRCh38]
Chr8:145010141 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.8391C>T (p.Ile2797=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001084385]|not provided [RCV000727767] Chr8:143921430 [GRCh38]
Chr8:144995598 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087798]|PLEC-related condition [RCV003945774]|not provided [RCV000727786] Chr8:143923867 [GRCh38]
Chr8:144998035 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.9005G>A (p.Arg3002Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001350391]|not provided [RCV000727822] Chr8:143920816 [GRCh38]
Chr8:144994984 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8523C>T (p.Arg2841=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002060964]|not provided [RCV000727864] Chr8:143921298 [GRCh38]
Chr8:144995466 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.13005C>T (p.Ala4335=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001084185]|not provided [RCV000728221] Chr8:143916816 [GRCh38]
Chr8:144990984 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.12651G>A (p.Ser4217=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000546457] Chr8:143917170 [GRCh38]
Chr8:144991338 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.7669C>T (p.Arg2557Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000546464]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002497168]|not provided [RCV000727732] Chr8:143922152 [GRCh38]
Chr8:144996320 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1179T>G (p.Cys393Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001315168]|not provided [RCV000728834] Chr8:143934082 [GRCh38]
Chr8:145008250 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4946A>T (p.Glu1649Val) single nucleotide variant not provided [RCV001712483] Chr8:143924983 [GRCh38]
Chr8:144999151 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.8802G>A (p.Thr2934=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000544812] Chr8:143921019 [GRCh38]
Chr8:144995187 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.3786C>T (p.Gly1262=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001862150]|not provided [RCV000728535] Chr8:143927306 [GRCh38]
Chr8:145001474 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.9544A>G (p.Ser3182Gly) single nucleotide variant not provided [RCV000728536] Chr8:143920277 [GRCh38]
Chr8:144994445 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.13106C>T (p.Ser4369Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001314559]|not provided [RCV000728963] Chr8:143916715 [GRCh38]
Chr8:144990883 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002067079]|not provided [RCV000727697] Chr8:143917998 [GRCh38]
Chr8:144992166 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.4897C>T (p.Arg1633Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000812387]|not provided [RCV000727726] Chr8:143925032 [GRCh38]
Chr8:144999200 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7909G>A (p.Ala2637Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001868925]|not provided [RCV000727748] Chr8:143921912 [GRCh38]
Chr8:144996080 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5222G>A (p.Arg1741His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000797700]|not provided [RCV000727761] Chr8:143924707 [GRCh38]
Chr8:144998875 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.12711G>A (p.Ser4237=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001402775]|not provided [RCV000727766] Chr8:143917110 [GRCh38]
Chr8:144991278 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001085171]|PLEC-related condition [RCV003918182]|not provided [RCV000727770] Chr8:143926873 [GRCh38]
Chr8:145001041 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.8573C>T (p.Thr2858Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000792680]|not provided [RCV000727826] Chr8:143921248 [GRCh38]
Chr8:144995416 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2391C>T (p.Arg797=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001437160]|not provided [RCV000727838] Chr8:143930450 [GRCh38]
Chr8:145004618 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.10208G>A (p.Arg3403Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001089260]|not provided [RCV000727848] Chr8:143919613 [GRCh38]
Chr8:144993781 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2425C>T (p.Leu809=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002067081]|not provided [RCV000727965] Chr8:143930416 [GRCh38]
Chr8:145004584 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_201384.3(PLEC):c.1002C>T (p.Ala334=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001078546]|PLEC-related condition [RCV003938094]|not provided [RCV000727967] Chr8:143934674 [GRCh38]
Chr8:145008842 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.12677C>T (p.Thr4226Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542620]|not provided [RCV000595415] Chr8:143917144 [GRCh38]
Chr8:144991312 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2560G>A (p.Val854Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000824123]|not provided [RCV000729293] Chr8:143930196 [GRCh38]
Chr8:145004364 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.13212C>T (p.Gly4404=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001458308]|not provided [RCV000729300] Chr8:143916609 [GRCh38]
Chr8:144990777 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2613-8C>T single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000550147]|PLEC-related condition [RCV003980002] Chr8:143930070 [GRCh38]
Chr8:145004238 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.5329_5330inv (p.Glu1777Ser) inversion Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003766967]|not specified [RCV000519081] Chr8:143924599..143924600 [GRCh38]
Chr8:144998767..144998768 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11926G>A (p.Val3976Ile) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525118]|not provided [RCV003139849] Chr8:143917895 [GRCh38]
Chr8:144992063 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1361A>G (p.Asn454Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001345747]|not provided [RCV000519286] Chr8:143933254 [GRCh38]
Chr8:145007422 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5715G>A (p.Glu1905=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547841] Chr8:143924214 [GRCh38]
Chr8:144998382 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.12018G>A (p.Ser4006=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002060379]|not provided [RCV000525630] Chr8:143917803 [GRCh38]
Chr8:144991971 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.3984A>G (p.Thr1328=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000543595] Chr8:143926844 [GRCh38]
Chr8:145001012 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.1191C>A (p.Ile397=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002065428]|PLEC-related condition [RCV003935693]|not provided [RCV000729823]|not specified [RCV000602939] Chr8:143934070 [GRCh38]
Chr8:145008238 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.3638G>A (p.Arg1213His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001246525]|Inborn genetic diseases [RCV002525065]|not specified [RCV000517017] Chr8:143927528 [GRCh38]
Chr8:145001696 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3685C>T (p.Arg1229Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000548392]|not provided [RCV003133338] Chr8:143927481 [GRCh38]
Chr8:145001649 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648676]|not provided [RCV000731027]|not specified [RCV000602974] Chr8:143921289 [GRCh38]
Chr8:144995457 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.3176C>T (p.Ala1059Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000550670]|not provided [RCV001755870] Chr8:143929187 [GRCh38]
Chr8:145003355 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1263+7_1263+8delinsCA indel Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000550699] Chr8:143933990..143933991 [GRCh38]
Chr8:145008158..145008159 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.3687G>T (p.Arg1229=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000526513]|not provided [RCV000596341] Chr8:143927479 [GRCh38]
Chr8:145001647 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.12907G>A (p.Val4303Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000526531]|Inborn genetic diseases [RCV002527965]|not provided [RCV000999082] Chr8:143916914 [GRCh38]
Chr8:144991082 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.13344C>T (p.Asp4448=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001082054]|not provided [RCV000840231] Chr8:143916477 [GRCh38]
Chr8:144990645 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_000445.5(PLEC):c.38A>C (p.Glu13Ala) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001219340]|not provided [RCV000767042]|not specified [RCV000516398] Chr8:143975332 [GRCh38]
Chr8:145049500 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8062G>A (p.Val2688Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000529343]|not provided [RCV003133346] Chr8:143921759 [GRCh38]
Chr8:144995927 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4697C>T (p.Ala1566Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001859350]|not provided [RCV001508255] Chr8:143925232 [GRCh38]
Chr8:144999400 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3787G>A (p.Glu1263Lys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000876023]|PLEC-related condition [RCV003960220]|not provided [RCV001722437]|not specified [RCV000517992] Chr8:143927305 [GRCh38]
Chr8:145001473 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.9063G>A (p.Arg3021=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001450269] Chr8:143920758 [GRCh38]
Chr8:144994926 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.8545G>A (p.Asp2849Asn) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000552323]|Inborn genetic diseases [RCV002530085]|not provided [RCV000992657] Chr8:143921276 [GRCh38]
Chr8:144995444 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000529959]|not provided [RCV000727816]|not specified [RCV000609012] Chr8:143923088 [GRCh38]
Chr8:144997256 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.6840C>T (p.Ala2280=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001421530]|not provided [RCV000727856] Chr8:143923089 [GRCh38]
Chr8:144997257 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.13469G>A (p.Arg4490His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648526]|Inborn genetic diseases [RCV002525064]|not provided [RCV003133300]|not specified [RCV000516349] Chr8:143916352 [GRCh38]
Chr8:144990520 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1471C>T (p.Arg491Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000530304] Chr8:143933059 [GRCh38]
Chr8:145007227 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6266C>T (p.Ala2089Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002060252]|Inborn genetic diseases [RCV003159661]|not provided [RCV000727425]|not specified [RCV000516442] Chr8:143923663 [GRCh38]
Chr8:144997831 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201378.4(PLEC):c.71-5086G>A single nucleotide variant not specified [RCV000516637] Chr8:143943778 [GRCh38]
Chr8:145017946 [GRCh37]
Chr8:8q24.3
pathogenic|uncertain significance
NM_201384.3(PLEC):c.6968C>T (p.Thr2323Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001071397]|not provided [RCV000727287] Chr8:143922961 [GRCh38]
Chr8:144997129 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5028C>T (p.Arg1676=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000530670]|not specified [RCV000611198] Chr8:143924901 [GRCh38]
Chr8:144999069 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.5133G>A (p.Ala1711=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000544677] Chr8:143924796 [GRCh38]
Chr8:144998964 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.6770G>A (p.Arg2257His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000531027]|not provided [RCV000727650] Chr8:143923159 [GRCh38]
Chr8:144997327 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3298G>A (p.Gly1100Arg) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000553874]|not provided [RCV003133337] Chr8:143927955 [GRCh38]
Chr8:145002123 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000553900]|not provided [RCV000727708] Chr8:143922559 [GRCh38]
Chr8:144996727 [GRCh37]
Chr8:8q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6858G>A (p.Ala2286=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000545008]|not provided [RCV001591254] Chr8:143923071 [GRCh38]
Chr8:144997239 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.13510G>A (p.Gly4504Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000554151]|not provided [RCV000597823] Chr8:143916311 [GRCh38]
Chr8:144990479 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_000445.5(PLEC):c.26G>A (p.Arg9Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087815]|not provided [RCV000712730]|not specified [RCV000601367] Chr8:143975344 [GRCh38]
Chr8:145049512 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.1459G>A (p.Glu487Lys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000554190]|not provided [RCV003133379] Chr8:143933071 [GRCh38]
Chr8:145007239 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7606_7620del (p.Arg2536_Gln2540del) deletion not provided [RCV000521234] Chr8:143922201..143922215 [GRCh38]
Chr8:144996369..144996383 [GRCh37]
Chr8:8q24.3
likely pathogenic|uncertain significance
NM_201384.3(PLEC):c.4771C>G (p.Gln1591Glu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000528605] Chr8:143925158 [GRCh38]
Chr8:144999326 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201378.4(PLEC):c.71-12006C>T single nucleotide variant not specified [RCV000517356] Chr8:143950698 [GRCh38]
Chr8:145024866 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.4649G>A (p.Arg1550Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551107]|Inborn genetic diseases [RCV002530080] Chr8:143925280 [GRCh38]
Chr8:144999448 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5014G>A (p.Glu1672Lys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000546193]|not provided [RCV000595344] Chr8:143924915 [GRCh38]
Chr8:144999083 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.13449C>T (p.Ser4483=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000528968]|not provided [RCV000598082] Chr8:143916372 [GRCh38]
Chr8:144990540 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.1458C>T (p.Thr486=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576159] Chr8:143933072 [GRCh38]
Chr8:145007240 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.13263C>T (p.Thr4421=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576169]|PLEC-related condition [RCV003945356]|not specified [RCV000607170] Chr8:143916558 [GRCh38]
Chr8:144990726 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.11700G>A (p.Ser3900=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576184] Chr8:143918121 [GRCh38]
Chr8:144992289 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.13552T>C (p.Ser4518Pro) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576270]|Inborn genetic diseases [RCV003243203] Chr8:143916269 [GRCh38]
Chr8:144990437 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11610C>T (p.Thr3870=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576274]|PLEC-related condition [RCV003945358] Chr8:143918211 [GRCh38]
Chr8:144992379 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.5379C>T (p.Ala1793=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551614] Chr8:143924550 [GRCh38]
Chr8:144998718 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.112+3A>G single nucleotide variant not provided [RCV000517739] Chr8:143939347 [GRCh38]
Chr8:145013515 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.12406G>C (p.Val4136Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000529280] Chr8:143917415 [GRCh38]
Chr8:144991583 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4499G>A (p.Arg1500Gln) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV003147505]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000526446]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000764755]|not provided [RCV000732027] Chr8:143925430 [GRCh38]
Chr8:144999598 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3648A>C (p.Ala1216=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000549062] Chr8:143927518 [GRCh38]
Chr8:145001686 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.12675C>G (p.Gly4225=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002065183]|not provided [RCV000593992] Chr8:143917146 [GRCh38]
Chr8:144991314 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.10322C>T (p.Ser3441Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525638]|Inborn genetic diseases [RCV002530073]|not provided [RCV001726235] Chr8:143919499 [GRCh38]
Chr8:144993667 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2462C>T (p.Thr821Ile) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542763]|Inborn genetic diseases [RCV002530077]|not provided [RCV003133334] Chr8:143930294 [GRCh38]
Chr8:145004462 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3
pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:139447227-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053701]|See cases [RCV000053701] Chr8:139447227..145054775 [GRCh38]
Chr8:140459470..146280161 [GRCh37]
Chr8:140528652..146250965 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:143684819-144287978)x1 copy number loss See cases [RCV000054310] Chr8:143684819..144287978 [GRCh38]
Chr8:144940777..145511679 [GRCh37]
Chr8:144838977..145482487 [NCBI36]
Chr8:8q24.3
pathogenic
NM_000445.4(PLEC):c.13303C>T (p.Leu4435=) single nucleotide variant Malignant melanoma [RCV000068207] Chr8:143916599 [GRCh38]
Chr8:144990767 [GRCh37]
Chr8:145062755 [NCBI36]
Chr8:8q24.3
not provided
NM_000445.4(PLEC):c.12825C>T (p.Ser4275=) single nucleotide variant Malignant melanoma [RCV000068208] Chr8:143917077 [GRCh38]
Chr8:144991245 [GRCh37]
Chr8:145063233 [NCBI36]
Chr8:8q24.3
not provided
NM_201384.3(PLEC):c.8703C>T (p.Ala2901=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000930424] Chr8:143921118 [GRCh38]
Chr8:144995286 [GRCh37]
Chr8:145067274 [NCBI36]
Chr8:8q24.3
likely benign|not provided
NM_201384.3(PLEC):c.9960C>T (p.Ser3320=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000876849]|not specified [RCV000611926] Chr8:143919861 [GRCh38]
Chr8:144994029 [GRCh37]
Chr8:145066017 [NCBI36]
Chr8:8q24.3
likely benign|not provided
NM_201384.3(PLEC):c.1685A>G (p.His562Arg) single nucleotide variant Epidermolysis bullosa simplex, Ogna type [RCV000662035] Chr8:143932845 [GRCh38]
Chr8:145007013 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3733C>A (p.Arg1245=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000872054]|not provided [RCV001707528]|not specified [RCV000117966] Chr8:143927433 [GRCh38]
Chr8:145001601 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.3883C>T (p.Pro1295Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001238838]|not provided [RCV000117967] Chr8:143927039 [GRCh38]
Chr8:145001207 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.*10C>T single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789008]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789005]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789007]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789009]|Epidermolysis bullosa simplex, Ogna type [RCV001789006]|not provided [RCV001650897]|not specified [RCV000078827] Chr8:143916167 [GRCh38]
Chr8:144990335 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.*19C>T single nucleotide variant not provided [RCV001689623]|not specified [RCV000078828] Chr8:143916158 [GRCh38]
Chr8:144990326 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.9925C>T (p.Arg3309Cys) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001731364]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080785]|not provided [RCV000659111]|not specified [RCV000078829] Chr8:143919896 [GRCh38]
Chr8:144994064 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.9945C>T (p.Ser3315=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000538981]|not specified [RCV000078830] Chr8:143919876 [GRCh38]
Chr8:144994044 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.946-6T>C single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001078660]|not provided [RCV000078831] Chr8:143934736 [GRCh38]
Chr8:145008904 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088568]|PLEC-related condition [RCV003915053]|not provided [RCV000723747] Chr8:143919404 [GRCh38]
Chr8:144993572 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.10612T>C (p.Leu3538=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789013]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516978]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789010]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789012]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789014]|Epidermolysis bullosa simplex, Ogna type [RCV001789011]|not provided [RCV000992634]|not specified [RCV000078833] Chr8:143919209 [GRCh38]
Chr8:144993377 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.10656G>A (p.Val3552=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088523]|PLEC-related condition [RCV003974961]|not provided [RCV000078834] Chr8:143919165 [GRCh38]
Chr8:144993333 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.10665G>A (p.Thr3555=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789018]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516977]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789015]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789017]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789019]|Epidermolysis bullosa simplex, Ogna type [RCV001789016]|not provided [RCV001711181]|not specified [RCV000078835] Chr8:143919156 [GRCh38]
Chr8:144993324 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.10759C>T (p.Leu3587=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081533]|PLEC-related condition [RCV003935019]|not provided [RCV000513546]|not specified [RCV000078836] Chr8:143919062 [GRCh38]
Chr8:144993230 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.11127T>C (p.Ala3709=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789023]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516976]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789020]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789022]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789024]|Epidermolysis bullosa simplex, Ogna type [RCV001789021]|not provided [RCV001538477]|not specified [RCV000078837] Chr8:143918694 [GRCh38]
Chr8:144992862 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.11628A>G (p.Pro3876=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789028]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001520616]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789025]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789027]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789029]|Epidermolysis bullosa simplex, Ogna type [RCV001789026]|not provided [RCV001709481]|not specified [RCV000078838] Chr8:143918193 [GRCh38]
Chr8:144992361 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.11885C>T (p.Thr3962Ile) single nucleotide variant not provided [RCV000078839] Chr8:143917936 [GRCh38]
Chr8:144992104 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11886A>G (p.Thr3962=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789033]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516975]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789030]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789032]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789034]|Epidermolysis bullosa simplex, Ogna type [RCV001789031]|not provided [RCV000992636]|not specified [RCV000078840] Chr8:143917935 [GRCh38]
Chr8:144992103 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.11940C>T (p.Ile3980=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551388]|not provided [RCV001795057]|not specified [RCV000078841] Chr8:143917881 [GRCh38]
Chr8:144992049 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.11994C>T (p.Pro3998=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080786]|not provided [RCV000513196]|not specified [RCV000078842] Chr8:143917827 [GRCh38]
Chr8:144991995 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.12561C>T (p.Asp4187=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000529639]|not provided [RCV001711182]|not specified [RCV000078843] Chr8:143917260 [GRCh38]
Chr8:144991428 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.12784G>A (p.Val4262Ile) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001731365]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081899]|PLEC-related condition [RCV003935020]|not provided [RCV000712719]|not specified [RCV000078844] Chr8:143917037 [GRCh38]
Chr8:144991205 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.12813A>G (p.Ser4271=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789038]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516974]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789035]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789037]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789039]|Epidermolysis bullosa simplex, Ogna type [RCV001789036]|not provided [RCV001610354]|not specified [RCV000078845] Chr8:143917008 [GRCh38]
Chr8:144991176 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.13110C>T (p.Ala4370=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576189]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002483134]|not provided [RCV001795058]|not specified [RCV000117951] Chr8:143916711 [GRCh38]
Chr8:144990879 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_201384.3(PLEC):c.13402G>A (p.Ala4468Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648640]|not provided [RCV001703986]|not specified [RCV000078847] Chr8:143916419 [GRCh38]
Chr8:144990587 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.13461T>C (p.Ala4487=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789043]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516973]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789040]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789042]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789044]|Epidermolysis bullosa simplex, Ogna type [RCV001789041]|not provided [RCV001530558]|not specified [RCV000078848] Chr8:143916360 [GRCh38]
Chr8:144990528 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.1815+10G>A single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525498]|PLEC-related condition [RCV003944995]|not provided [RCV001650898]|not specified [RCV000078849] Chr8:143932625 [GRCh38]
Chr8:145006793 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_201384.3(PLEC):c.1815+13A>G single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789048]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789045]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002055101]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789047]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789049]|Epidermolysis bullosa simplex, Ogna type [RCV001789046]|not specified [RCV000078850] Chr8:143932622 [GRCh38]
Chr8:145006790 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.2178+9C>G single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547100]|not specified [RCV000078851] Chr8:143931928 [GRCh38]
Chr8:145006096 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.2263G>A (p.Ala755Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000873584]|Inborn genetic diseases [RCV002513828]|PLEC-related condition [RCV003905044]|not specified [RCV000078852] Chr8:143931575 [GRCh38]
Chr8:145005743 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.2304+9dup duplication Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789053]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789050]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002055102]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789052]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789054]|Epidermolysis bullosa simplex, Ogna type [RCV001789051]|not provided [RCV000078853]|not specified [RCV000214823] Chr8:143931520..143931521 [GRCh38]
Chr8:145005688..145005689 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_201384.3(PLEC):c.2305-10del deletion Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576172]|not specified [RCV000078854] Chr8:143930546 [GRCh38]
Chr8:145004714 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.3111C>T (p.Gly1037=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002514386]|not provided [RCV000078855] Chr8:143929252 [GRCh38]
Chr8:145003420 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.3261-13G>A single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002055103]|not specified [RCV000078856] Chr8:143928005 [GRCh38]
Chr8:145002173 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.3351C>T (p.Ala1117=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000538429]|not provided [RCV001795059]|not specified [RCV000078857] Chr8:143927902 [GRCh38]
Chr8:145002070 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.3378G>A (p.Glu1126=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000553058]|not specified [RCV000078858] Chr8:143927875 [GRCh38]
Chr8:145002043 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.3550T>C (p.Leu1184=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789058]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521024]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789055]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789057]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789059]|Epidermolysis bullosa simplex, Ogna type [RCV001789056]|not provided [RCV001682762]|not specified [RCV000078859] Chr8:143927616 [GRCh38]
Chr8:145001784 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.3682C>T (p.Arg1228Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000559326]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003483469]|PLEC-related condition [RCV003935021]|not provided [RCV001573373]|not specified [RCV000078860] Chr8:143927484 [GRCh38]
Chr8:145001652 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance|not provided
NM_201384.3(PLEC):c.3746G>A (p.Arg1249Gln) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789063]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521023]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789060]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789062]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789064]|Epidermolysis bullosa simplex, Ogna type [RCV001789061]|not provided [RCV001650899]|not specified [RCV000078861] Chr8:143927420 [GRCh38]
Chr8:145001588 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.3757-6A>G single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789068]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521022]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789065]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789067]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789069]|Epidermolysis bullosa simplex, Ogna type [RCV001789066]|not specified [RCV000078862] Chr8:143927341 [GRCh38]
Chr8:145001509 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.3757-9A>G single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000540463]|not provided [RCV000712737]|not specified [RCV000078863] Chr8:143927344 [GRCh38]
Chr8:145001512 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4045-4A>G single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789073]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516618]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789070]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789072]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789074]|Epidermolysis bullosa simplex, Ogna type [RCV001789071]|not specified [RCV000078864] Chr8:143925888 [GRCh38]
Chr8:145000056 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4413T>C (p.Ala1471=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789078]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521020]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789075]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789077]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789079]|Epidermolysis bullosa simplex, Ogna type [RCV001789076]|not provided [RCV001711183]|not specified [RCV000078865] Chr8:143925516 [GRCh38]
Chr8:144999684 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4455T>G (p.Ala1485=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789083]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521019]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789080]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789082]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789084]|Epidermolysis bullosa simplex, Ogna type [RCV001789081]|not provided [RCV001711184]|not specified [RCV000078866] Chr8:143925474 [GRCh38]
Chr8:144999642 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4476G>A (p.Ala1492=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789088]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521018]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789085]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789087]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789089]|Epidermolysis bullosa simplex, Ogna type [RCV001789086]|not provided [RCV000992648]|not specified [RCV000078867] Chr8:143925453 [GRCh38]
Chr8:144999621 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4556C>T (p.Ser1519Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001086335]|not provided [RCV000544997]|not specified [RCV000078868] Chr8:143925373 [GRCh38]
Chr8:144999541 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4557G>A (p.Ser1519=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000555004]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002490681]|not specified [RCV000078869] Chr8:143925372 [GRCh38]
Chr8:144999540 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4644G>A (p.Ala1548=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000557988]|not provided [RCV001618246]|not specified [RCV000078870] Chr8:143925285 [GRCh38]
Chr8:144999453 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4680G>A (p.Ala1560=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789093]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521017]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789090]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789092]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789094]|Epidermolysis bullosa simplex, Ogna type [RCV001789091]|not provided [RCV001647051]|not specified [RCV000078871] Chr8:143925249 [GRCh38]
Chr8:144999417 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.4707G>A (p.Thr1569=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002514387]|not provided [RCV000078872] Chr8:143925222 [GRCh38]
Chr8:144999390 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_201384.3(PLEC):c.5082G>A (p.Leu1694=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000560094]|not provided [RCV001719820]|not specified [RCV000078873] Chr8:143924847 [GRCh38]
Chr8:144999015 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5165C>T (p.Thr1722Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088297]|not specified [RCV000078874] Chr8:143924764 [GRCh38]
Chr8:144998932 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.5229G>A (p.Ala1743=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547990]|not specified [RCV000078875] Chr8:143924700 [GRCh38]
Chr8:144998868 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.465G>A (p.Ser155=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648662]|not specified [RCV000078876] Chr8:143935985 [GRCh38]
Chr8:145010153 [GRCh37]
Chr8:8q24.3
benign|uncertain significance
NM_201384.3(PLEC):c.5443C>T (p.Arg1815Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080114]|PLEC-related condition [RCV003935022]|not provided [RCV000648570]|not specified [RCV000078877] Chr8:143924486 [GRCh38]
Chr8:144998654 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5477G>A (p.Arg1826Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000553722]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002498385]|not provided [RCV000424593]|not specified [RCV000078878] Chr8:143924452 [GRCh38]
Chr8:144998620 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.5583G>A (p.Ala1861=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001518326]|not provided [RCV001711185]|not specified [RCV000078879] Chr8:143924346 [GRCh38]
Chr8:144998514 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.5673C>T (p.Ile1891=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001089103]|not provided [RCV000648607]|not specified [RCV000078880] Chr8:143924256 [GRCh38]
Chr8:144998424 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_201384.3(PLEC):c.5865G>A (p.Ala1955=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000540042]|not specified [RCV000078881] Chr8:143924064 [GRCh38]
Chr8:144998232 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.5907T>C (p.Ala1969=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789098]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521016]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789095]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789097]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789099]|Epidermolysis bullosa simplex, Ogna type [RCV001789096]|not provided [RCV001610355]|not specified [RCV000078882] Chr8:143924022 [GRCh38]
Chr8:144998190 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.5928G>A (p.Ala1976=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789103]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521015]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789100]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789102]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789104]|Epidermolysis bullosa simplex, Ogna type [RCV001789101]|not provided [RCV001711186]|not specified [RCV000078883] Chr8:143924001 [GRCh38]
Chr8:144998169 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000554019]|Inborn genetic diseases [RCV002514388]|not provided [RCV000078884] Chr8:143923999 [GRCh38]
Chr8:144998167 [GRCh37]
Chr8:8q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6069C>G (p.Arg2023=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001083471]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002504989]|PLEC-related condition [RCV003935023]|not provided [RCV000712750]|not specified [RCV000222676] Chr8:143923860 [GRCh38]
Chr8:144998028 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6170C>T (p.Ala2057Val) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789105]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521014]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001787869]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001787871]|Epidermolysis bullosa simplex with nail dystrophy [RCV001787872]|Epidermolysis bullosa simplex, Ogna type [RCV001787870]|not provided [RCV000992652]|not specified [RCV000078886] Chr8:143923759 [GRCh38]
Chr8:144997927 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.6314C>T (p.Ala2105Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001518325]|not specified [RCV000078887] Chr8:143923615 [GRCh38]
Chr8:144997783 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.6441G>A (p.Ala2147=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001787876]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521013]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001787873]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001787875]|Epidermolysis bullosa simplex with nail dystrophy [RCV001787877]|Epidermolysis bullosa simplex, Ogna type [RCV001787874]|not provided [RCV001668185]|not specified [RCV000078888] Chr8:143923488 [GRCh38]
Chr8:144997656 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.6513G>A (p.Lys2171=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000539361]|not provided [RCV001537835]|not specified [RCV000078889] Chr8:143923416 [GRCh38]
Chr8:144997584 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.6577C>T (p.Leu2193=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000528141]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002490682]|not specified [RCV000078890] Chr8:143923352 [GRCh38]
Chr8:144997520 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.6757G>A (p.Ala2253Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542065]|not provided [RCV001711187]|not specified [RCV000078891] Chr8:143923172 [GRCh38]
Chr8:144997340 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.7074G>A (p.Ala2358=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000559683]|PLEC-related condition [RCV003915054]|not provided [RCV001200490]|not specified [RCV000078892] Chr8:143922855 [GRCh38]
Chr8:144997023 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_201384.3(PLEC):c.7581A>C (p.Ala2527=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789109]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521012]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789106]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789108]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789110]|Epidermolysis bullosa simplex, Ogna type [RCV001789107]|not specified [RCV000078893] Chr8:143922240 [GRCh38]
Chr8:144996408 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.7821C>T (p.Ala2607=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000534108]|not provided [RCV000078894] Chr8:143922000 [GRCh38]
Chr8:144996168 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.7878G>A (p.Leu2626=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001517673]|not specified [RCV000078895] Chr8:143921943 [GRCh38]
Chr8:144996111 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.7880C>G (p.Pro2627Arg) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000527429]|not provided [RCV001711188]|not specified [RCV000078896] Chr8:143921941 [GRCh38]
Chr8:144996109 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.718+10C>T single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001514906]|not provided [RCV001699200]|not specified [RCV000078897] Chr8:143935188 [GRCh38]
Chr8:145009356 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.7960T>C (p.Ser2654Pro) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789114]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521011]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789111]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789113]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789115]|Epidermolysis bullosa simplex, Ogna type [RCV001789112]|not specified [RCV000078898] Chr8:143921861 [GRCh38]
Chr8:144996029 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.8253C>T (p.Asn2751=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789119]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516980]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789116]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789118]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789120]|Epidermolysis bullosa simplex, Ogna type [RCV001789117]|not provided [RCV001668186]|not specified [RCV000078899] Chr8:143921568 [GRCh38]
Chr8:144995736 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.8430C>G (p.Ile2810Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001082807]|not provided [RCV000712763]|not specified [RCV000078900] Chr8:143921391 [GRCh38]
Chr8:144995559 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.8445T>C (p.Val2815=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000549628]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002490683]|not provided [RCV001719821]|not specified [RCV000078901] Chr8:143921376 [GRCh38]
Chr8:144995544 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.8495G>A (p.Arg2832His) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789124]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001516979]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789121]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789123]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789125]|Epidermolysis bullosa simplex, Ogna type [RCV001789122]|not provided [RCV001682763]|not specified [RCV000078902] Chr8:143921326 [GRCh38]
Chr8:144995494 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.9073G>A (p.Val3025Ile) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525932]|not specified [RCV000078903] Chr8:143920748 [GRCh38]
Chr8:144994916 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.9101C>T (p.Ala3034Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001517304]|not specified [RCV000078904] Chr8:143920720 [GRCh38]
Chr8:144994888 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.854G>A (p.Arg285Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088298]|not provided [RCV000525017]|not specified [RCV000078905] Chr8:143934901 [GRCh38]
Chr8:145009069 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.9777T>A (p.Ser3259=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000526410]|not specified [RCV000078906] Chr8:143920044 [GRCh38]
Chr8:144994212 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001084026]|PLEC-related condition [RCV003925149]|not provided [RCV000224453]|not specified [RCV000117938] Chr8:143919860 [GRCh38]
Chr8:144994028 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.9966C>T (p.Val3322=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576244]|not specified [RCV000117939] Chr8:143919855 [GRCh38]
Chr8:144994023 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.10014C>T (p.Val3338=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000538930]|not specified [RCV000117940] Chr8:143919807 [GRCh38]
Chr8:144993975 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.10046C>T (p.Thr3349Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576247]|not specified [RCV000117941] Chr8:143919775 [GRCh38]
Chr8:144993943 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.10058G>C (p.Gly3353Ala) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576151]|not provided [RCV000992632]|not specified [RCV000117942] Chr8:143919763 [GRCh38]
Chr8:144993931 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.10920C>T (p.Tyr3640=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001511010]|not provided [RCV000712711]|not specified [RCV000117943] Chr8:143918901 [GRCh38]
Chr8:144993069 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.10986C>T (p.Thr3662=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576155]|not provided [RCV003436931]|not specified [RCV000117944] Chr8:143918835 [GRCh38]
Chr8:144993003 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.11089C>T (p.Leu3697=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576267]|not provided [RCV000712714]|not specified [RCV000117945] Chr8:143918732 [GRCh38]
Chr8:144992900 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.11599G>C (p.Asp3867His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576179]|not specified [RCV000117946] Chr8:143918222 [GRCh38]
Chr8:144992390 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.11601C>T (p.Asp3867=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542062]|not specified [RCV000117947] Chr8:143918220 [GRCh38]
Chr8:144992388 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.1095T>C (p.Asp365=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789148]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001510473]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789145]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789147]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789149]|Epidermolysis bullosa simplex, Ogna type [RCV001789146]|not provided [RCV001610419]|not specified [RCV000117948] Chr8:143934392 [GRCh38]
Chr8:145008560 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.11913G>A (p.Ala3971=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576231]|not specified [RCV000117949] Chr8:143917908 [GRCh38]
Chr8:144992076 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087438]|not provided [RCV000726487]|not specified [RCV000117950] Chr8:143917206 [GRCh38]
Chr8:144991374 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.13205C>T (p.Thr4402Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576255]|not provided [RCV001573821]|not specified [RCV000117952] Chr8:143916616 [GRCh38]
Chr8:144990784 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000558023]|not provided [RCV000725963]|not specified [RCV000117953] Chr8:143975237 [GRCh38]
Chr8:145049405 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.1374C>T (p.Thr458=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576242]|not specified [RCV000117954] Chr8:143933241 [GRCh38]
Chr8:145007409 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.1511C>T (p.Ala504Val) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789153]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521025]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789150]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789152]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789154]|Epidermolysis bullosa simplex, Ogna type [RCV001789151]|not provided [RCV001594844]|not specified [RCV000117955] Chr8:143933019 [GRCh38]
Chr8:145007187 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576259]|not provided [RCV000992642]|not specified [RCV000117956] Chr8:143932824 [GRCh38]
Chr8:145006992 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.1752C>T (p.Pro584=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000541564]|not specified [RCV000117957] Chr8:143932698 [GRCh38]
Chr8:145006866 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.2217G>A (p.Gln739=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576265]|not specified [RCV000117958] Chr8:143931621 [GRCh38]
Chr8:145005789 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.2457+6C>T single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789158]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001520617]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789155]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789157]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789159]|Epidermolysis bullosa simplex, Ogna type [RCV001789156]|not provided [RCV001534504]|not specified [RCV000117959] Chr8:143930378 [GRCh38]
Chr8:145004546 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.2548G>A (p.Ala850Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000550871]|not specified [RCV000117960] Chr8:143930208 [GRCh38]
Chr8:145004376 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.2613-7C>A single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000534780]|not specified [RCV000117961] Chr8:143930069 [GRCh38]
Chr8:145004237 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.2658G>A (p.Leu886=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000538580]|not provided [RCV001682820]|not specified [RCV000117962] Chr8:143930017 [GRCh38]
Chr8:145004185 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.2832C>T (p.Gly944=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000530081]|not specified [RCV000117963] Chr8:143929737 [GRCh38]
Chr8:145003905 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.3192C>T (p.Arg1064=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000539899]|not specified [RCV000117964] Chr8:143929171 [GRCh38]
Chr8:145003339 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.3717C>T (p.Ala1239=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000541392]|not specified [RCV000117965] Chr8:143927449 [GRCh38]
Chr8:145001617 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.3965A>G (p.His1322Arg) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789163]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521021]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789160]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789162]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789164]|Epidermolysis bullosa simplex, Ogna type [RCV001789161]|not provided [RCV001682821]|not specified [RCV000117968] Chr8:143926863 [GRCh38]
Chr8:145001031 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.4223C>T (p.Ala1408Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000549646]|PLEC-related condition [RCV003935121]|not provided [RCV001657749]|not specified [RCV000117969] Chr8:143925706 [GRCh38]
Chr8:144999874 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.378T>C (p.Ala126=) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001789168]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001510474]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001789165]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001789167]|Epidermolysis bullosa simplex with nail dystrophy [RCV001789169]|Epidermolysis bullosa simplex, Ogna type [RCV001789166]|not provided [RCV000992649]|not specified [RCV000117970] Chr8:143937036 [GRCh38]
Chr8:145011204 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.4635G>A (p.Ala1545=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000544106]|PLEC-related condition [RCV003925150]|not provided [RCV001697045]|not specified [RCV000117971] Chr8:143925294 [GRCh38]
Chr8:144999462 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.6741C>T (p.Ile2247=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000531908]|not specified [RCV000117972] Chr8:143923188 [GRCh38]
Chr8:144997356 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.7110C>T (p.Ala2370=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000548485]|not specified [RCV000117973] Chr8:143922819 [GRCh38]
Chr8:144996987 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.7260G>A (p.Thr2420=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547664]|not provided [RCV001697141]|not specified [RCV000117974] Chr8:143922669 [GRCh38]
Chr8:144996837 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.7266C>T (p.Leu2422=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525975]|not specified [RCV000117975] Chr8:143922663 [GRCh38]
Chr8:144996831 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.7726C>T (p.Leu2576=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000535178]|not specified [RCV000117976] Chr8:143922095 [GRCh38]
Chr8:144996263 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.8012G>A (p.Arg2671Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080370]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002490804]|not provided [RCV000224341]|not specified [RCV000117977] Chr8:143921809 [GRCh38]
Chr8:144995977 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.8025C>T (p.Gly2675=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001521010]|not provided [RCV000712762]|not specified [RCV000117978] Chr8:143921796 [GRCh38]
Chr8:144995964 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.8050C>T (p.Arg2684Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525724]|not provided [RCV001573549]|not specified [RCV000117979] Chr8:143921771 [GRCh38]
Chr8:144995939 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.8319C>T (p.Ala2773=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000546915]|not provided [RCV001795173]|not specified [RCV000117980] Chr8:143921502 [GRCh38]
Chr8:144995670 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.8820C>G (p.Asp2940Glu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000559616]|not provided [RCV000712764]|not specified [RCV000117981] Chr8:143921001 [GRCh38]
Chr8:144995169 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.9423C>T (p.Gly3141=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000542589]|not specified [RCV000117982] Chr8:143920398 [GRCh38]
Chr8:144994566 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_201384.3(PLEC):c.9435C>T (p.Asp3145=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000531341]|PLEC-related condition [RCV003905125]|not provided [RCV001729394]|not specified [RCV000117983] Chr8:143920386 [GRCh38]
Chr8:144994554 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000545319]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000988123]|Epidermolysis bullosa simplex, Ogna type [RCV001258316]|not provided [RCV002512059]|not specified [RCV000117984] Chr8:143934868 [GRCh38]
Chr8:145009036 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.8195C>T (p.Ala2732Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001211478]|not provided [RCV003132274] Chr8:143921626 [GRCh38]
Chr8:144995794 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
NM_201384.3(PLEC):c.10043G>A (p.Arg3348Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576198]|not provided [RCV003133382] Chr8:143919778 [GRCh38]
Chr8:144993946 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.2410C>T (p.Arg804Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000576269]|not provided [RCV000727778] Chr8:143930431 [GRCh38]
Chr8:145004599 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8576A>G (p.His2859Arg) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001348038] Chr8:143921245 [GRCh38]
Chr8:144995413 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4372C>T (p.Arg1458Cys) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001331241]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003770834] Chr8:143925557 [GRCh38]
Chr8:144999725 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1034C>T (p.Ser345Phe) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001303070] Chr8:143934642 [GRCh38]
Chr8:145008810 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2978G>A (p.Arg993Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648652]|Inborn genetic diseases [RCV003165369]|PLEC-related condition [RCV003937594]|not provided [RCV001697162]|not specified [RCV000176531] Chr8:143929517 [GRCh38]
Chr8:145003685 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.8492G>A (p.Arg2831Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001349254]|not provided [RCV003132449] Chr8:143921329 [GRCh38]
Chr8:144995497 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.12179G>A (p.Arg4060Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001312675] Chr8:143917642 [GRCh38]
Chr8:144991810 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3746_3747delinsAA (p.Arg1249Gln) indel not specified [RCV000176845] Chr8:143927419..143927420 [GRCh38]
Chr8:145001587..145001588 [GRCh37]
Chr8:8q24.3
likely benign
NM_201384.3(PLEC):c.5712C>T (p.Ser1904=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081109]|not provided [RCV001721116]|not specified [RCV000177597] Chr8:143924217 [GRCh38]
Chr8:144998385 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.6162C>T (p.His2054=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000528561]|not provided [RCV001704845]|not specified [RCV000177620] Chr8:143923767 [GRCh38]
Chr8:144997935 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.13575G>A (p.Ser4525=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087406]|PLEC-related condition [RCV003955058]|not provided [RCV000877106]|not specified [RCV000177679] Chr8:143916246 [GRCh38]
Chr8:144990414 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.378T>G (p.Ala126=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000541038]|PLEC-related condition [RCV003927677]|not provided [RCV001698994]|not specified [RCV000179315] Chr8:143937036 [GRCh38]
Chr8:145011204 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_000445.5(PLEC):c.34T>A (p.Ser12Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001302448] Chr8:143975336 [GRCh38]
Chr8:145049504 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4952T>C (p.Val1651Ala) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001348057] Chr8:143924977 [GRCh38]
Chr8:144999145 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.10037C>T (p.Ser3346Phe) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001348597] Chr8:143919784 [GRCh38]
Chr8:144993952 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4898G>A (p.Arg1633His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001348659]|Inborn genetic diseases [RCV002547484]|not provided [RCV003132446] Chr8:143925031 [GRCh38]
Chr8:144999199 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8170G>A (p.Gly2724Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001348669]|Inborn genetic diseases [RCV002545593]|not provided [RCV003130489] Chr8:143921651 [GRCh38]
Chr8:144995819 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201378.4(PLEC):c.71-11866G>A single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV000256418]|PLEC-related condition [RCV003939926] Chr8:143950558 [GRCh38]
Chr8:145024726 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201378.4(PLEC):c.71-11602G>A single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV000256467] Chr8:143950294 [GRCh38]
Chr8:145024462 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4736A>C (p.Gln1579Pro) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001331242]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001306350] Chr8:143925193 [GRCh38]
Chr8:144999361 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4889A>G (p.Glu1630Gly) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001863240]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002476546]|Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV001331243] Chr8:143925040 [GRCh38]
Chr8:144999208 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.933C>T (p.Phe311=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001504088]|not provided [RCV000173689] Chr8:143934822 [GRCh38]
Chr8:145008990 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.1050G>A (p.Val350=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001089305]|not provided [RCV000174247] Chr8:143934437 [GRCh38]
Chr8:145008605 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.1158C>G (p.Ser386Arg) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000559452]|Inborn genetic diseases [RCV002516622]|PLEC-related condition [RCV003937561]|not provided [RCV001721103]|not specified [RCV000174248] Chr8:143934329 [GRCh38]
Chr8:145008497 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.1214C>T (p.Ala405Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001852127]|Inborn genetic diseases [RCV002516632]|not provided [RCV000174481] Chr8:143934047 [GRCh38]
Chr8:145008215 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1461G>A (p.Glu487=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002056925]|not provided [RCV000174849] Chr8:143933069 [GRCh38]
Chr8:145007237 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.1545C>T (p.Pro515=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087346]|not provided [RCV000725385] Chr8:143932985 [GRCh38]
Chr8:145007153 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
NM_201384.3(PLEC):c.1771C>T (p.Arg591Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001852136]|not provided [RCV000175012] Chr8:143932679 [GRCh38]
Chr8:145006847 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.1918G>C (p.Val640Leu) single nucleotide variant not provided [RCV000175140] Chr8:143932459 [GRCh38]
Chr8:145006627 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.3(chr8:142201468-144002730)x1 copy number loss See cases [RCV000135981] Chr8:142201468..144002730 [GRCh38]
Chr8:143282829..145076898 [GRCh37]
Chr8:143280736..145148886 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3
pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.3(chr8:139236824-145068712)x3 copy number gain See cases [RCV000137466] Chr8:139236824..145068712 [GRCh38]
Chr8:140249067..146294098 [GRCh37]
Chr8:140318249..146264902 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.3(chr8:139004218-145049449)x3 copy number gain See cases [RCV000137340] Chr8:139004218..145049449 [GRCh38]
Chr8:140016461..146274835 [GRCh37]
Chr8:140085643..146245639 [NCBI36]
Chr8:8q24.3
likely pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q24.3(chr8:141738068-144140607)x1 copy number loss See cases [RCV000140913] Chr8:141738068..144140607 [GRCh38]
Chr8:142764538..145195510 [GRCh37]
Chr8:142823655..145267498 [NCBI36]
Chr8:8q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
NM_201384.3(PLEC):c.5316G>A (p.Ala1772=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000537017]|not specified [RCV000153738] Chr8:143924613 [GRCh38]
Chr8:144998781 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.13297A>T (p.Lys4433Ter) single nucleotide variant not provided [RCV000202942] Chr8:143916524 [GRCh38]
Chr8:144990692 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.2237G>A (p.Arg746His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000555489]|not provided [RCV000999100]|not specified [RCV000175499] Chr8:143931601 [GRCh38]
Chr8:145005769 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_000445.5(PLEC):c.164C>A (p.Pro55Gln) single nucleotide variant not provided [RCV000175609] Chr8:143975206 [GRCh38]
Chr8:145049374 [GRCh37]
Chr8:8q24.3
uncertain significance
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3
pathogenic
NM_201384.3(PLEC):c.12858G>A (p.Thr4286=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001850103]|not provided [RCV000153731] Chr8:143916963 [GRCh38]
Chr8:144991131 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.11437C>T (p.Arg3813Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648487]|Inborn genetic diseases [RCV002516091]|not provided [RCV000153732] Chr8:143918384 [GRCh38]
Chr8:144992552 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11208G>A (p.Pro3736=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000551868]|not provided [RCV001795266]|not specified [RCV000153733] Chr8:143918613 [GRCh38]
Chr8:144992781 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001393749]|PLEC-related condition [RCV003907453]|not provided [RCV000153734] Chr8:143919462 [GRCh38]
Chr8:144993630 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087716]|PLEC-related condition [RCV003975203]|not provided [RCV000712761] Chr8:143921991 [GRCh38]
Chr8:144996159 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001079339]|not provided [RCV000710177] Chr8:143922068 [GRCh38]
Chr8:144996236 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5476C>T (p.Arg1826Trp) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000785607]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081477]|not provided [RCV000514446]|not specified [RCV000153737] Chr8:143924453 [GRCh38]
Chr8:144998621 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4598G>A (p.Arg1533Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081838]|not provided [RCV000488034]|not specified [RCV000153739] Chr8:143925331 [GRCh38]
Chr8:144999499 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001505852]|not provided [RCV000723925]|not specified [RCV000153740] Chr8:143925711 [GRCh38]
Chr8:144999879 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.3661G>A (p.Ala1221Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001850104]|not provided [RCV000153741] Chr8:143927505 [GRCh38]
Chr8:145001673 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3220C>T (p.Leu1074=) single nucleotide variant not provided [RCV000153742] Chr8:143929143 [GRCh38]
Chr8:145003311 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001083079]|not provided [RCV000725198] Chr8:143930278 [GRCh38]
Chr8:145004446 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.174+10del deletion Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080335]|not provided [RCV000723803]|not specified [RCV000153746] Chr8:143938621 [GRCh38]
Chr8:145012789 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5932G>T (p.Glu1978Ter) single nucleotide variant not provided [RCV000203174] Chr8:143923997 [GRCh38]
Chr8:144998165 [GRCh37]
Chr8:8q24.3
pathogenic
NM_201384.3(PLEC):c.2604C>T (p.Ala868=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001450221]|not provided [RCV000176267] Chr8:143930152 [GRCh38]
Chr8:145004320 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2458-8C>T single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080184]|not provided [RCV000712728] Chr8:143930306 [GRCh38]
Chr8:145004474 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2497C>T (p.Pro833Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000765992]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001221617]|Inborn genetic diseases [RCV002517694]|not provided [RCV000176269] Chr8:143930259 [GRCh38]
Chr8:145004427 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001089444]|PLEC-related condition [RCV003947493]|not provided [RCV000712729] Chr8:143930205 [GRCh38]
Chr8:145004373 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087077]|not provided [RCV000513011]|not specified [RCV000194194] Chr8:143924168 [GRCh38]
Chr8:144998336 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.46C>T (p.Arg16Ter) single nucleotide variant Epidermolysis bullosa simplex 5C, with pyloric atresia [RCV003338451]|Epidermolysis bullosa simplex with nail dystrophy [RCV000186559]|not provided [RCV001092984] Chr8:143939416 [GRCh38]
Chr8:145013584 [GRCh37]
Chr8:8q24.3
pathogenic|likely pathogenic
NM_201384.3(PLEC):c.634C>T (p.Arg212Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001058539]|not provided [RCV000180024] Chr8:143935282 [GRCh38]
Chr8:145009450 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.3745C>A (p.Arg1249=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525898]|not provided [RCV001697206]|not specified [RCV000176846] Chr8:143927421 [GRCh38]
Chr8:145001589 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547452]|not provided [RCV000724976]|not specified [RCV000176847] Chr8:143927435 [GRCh38]
Chr8:145001603 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.3620G>T (p.Arg1207Leu) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000874343]|Inborn genetic diseases [RCV002517703]|not provided [RCV001288289]|not specified [RCV000176848] Chr8:143927546 [GRCh38]
Chr8:145001714 [GRCh37]
Chr8:8q24.3
benign|likely benign|uncertain significance
NM_201384.3(PLEC):c.3778C>G (p.Arg1260Gly) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000555351]|not provided [RCV001721113]|not specified [RCV000176898] Chr8:143927314 [GRCh38]
Chr8:145001482 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.793G>A (p.Val265Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001297944]|not provided [RCV000180507] Chr8:143935043 [GRCh38]
Chr8:145009211 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.174+10G>A single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088787]|not provided [RCV000177068]|not specified [RCV001289141] Chr8:143938621 [GRCh38]
Chr8:145012789 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001086698]|not provided [RCV000725509]|not specified [RCV000176458] Chr8:143929725 [GRCh38]
Chr8:145003893 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.2748C>T (p.Thr916=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080178]|not provided [RCV000176459] Chr8:143929821 [GRCh38]
Chr8:145003989 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.3885G>A (p.Pro1295=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001079216]|not provided [RCV000513375]|not specified [RCV000177444] Chr8:143927037 [GRCh38]
Chr8:145001205 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.3030G>A (p.Pro1010=) single nucleotide variant not provided [RCV000176529] Chr8:143929465 [GRCh38]
Chr8:145003633 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.2961C>T (p.Ser987=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000558705]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002505260]|PLEC-related condition [RCV003927630]|not provided [RCV001573568]|not specified [RCV000176530] Chr8:143929534 [GRCh38]
Chr8:145003702 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.3171G>A (p.Ser1057=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001079758]|not provided [RCV000525176]|not specified [RCV000176598] Chr8:143929192 [GRCh38]
Chr8:145003360 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.3210G>A (p.Thr1070=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000528949]|not provided [RCV001721111]|not specified [RCV000176617] Chr8:143929153 [GRCh38]
Chr8:145003321 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.3948C>T (p.Tyr1316=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002054093]|not provided [RCV000177514] Chr8:143926880 [GRCh38]
Chr8:145001048 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.4028G>A (p.Arg1343His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000547202]|not provided [RCV000177515] Chr8:143926800 [GRCh38]
Chr8:145000968 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7267G>A (p.Ala2423Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001086675]|PLEC-related condition [RCV003937606]|not provided [RCV000712756]|not specified [RCV000177598] Chr8:143922662 [GRCh38]
Chr8:144996830 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4651C>T (p.Arg1551Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001081839]|not provided [RCV000513857]|not specified [RCV000177579] Chr8:143925278 [GRCh38]
Chr8:144999446 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002054098]|PLEC-related condition [RCV003895194]|not provided [RCV000177580] Chr8:143925090 [GRCh38]
Chr8:144999258 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.4581G>A (p.Ala1527=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002054099]|not provided [RCV000177581] Chr8:143925348 [GRCh38]
Chr8:144999516 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.5390G>A (p.Arg1797His) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000785604]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000525521]|not provided [RCV000724830] Chr8:143924539 [GRCh38]
Chr8:144998707 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088713]|not provided [RCV000712754]|not specified [RCV000177583] Chr8:143923143 [GRCh38]
Chr8:144997311 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087481]|not provided [RCV000727685]|not specified [RCV001706135] Chr8:143925405 [GRCh38]
Chr8:144999573 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001086331]|PLEC-related condition [RCV003895195]|not provided [RCV000725527] Chr8:143924538 [GRCh38]
Chr8:144998706 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5878C>T (p.Arg1960Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000555080]|Inborn genetic diseases [RCV002516741]|not provided [RCV000177596] Chr8:143924051 [GRCh38]
Chr8:144998219 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5965C>T (p.Arg1989Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648470]|not provided [RCV000177599] Chr8:143923964 [GRCh38]
Chr8:144998132 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) single nucleotide variant Autosomal recessive limb-girdle muscular dystrophy type 2Q [RCV001199099]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088471]|not provided [RCV000415901] Chr8:143925853 [GRCh38]
Chr8:145000021 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5053C>T (p.Arg1685Trp) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001852192]|not provided [RCV000724002]|not specified [RCV000193340] Chr8:143924876 [GRCh38]
Chr8:144999044 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001087368]|not provided [RCV000724805] Chr8:143923707 [GRCh38]
Chr8:144997875 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4396C>T (p.Arg1466Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001852193]|not provided [RCV000177603] Chr8:143925533 [GRCh38]
Chr8:144999701 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6758C>T (p.Ala2253Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001344248]|Inborn genetic diseases [RCV002517717]|not provided [RCV000177604] Chr8:143923171 [GRCh38]
Chr8:144997339 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6311C>T (p.Ala2104Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000555665]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002492777]|not provided [RCV003436972]|not specified [RCV000177605] Chr8:143923618 [GRCh38]
Chr8:144997786 [GRCh37]
Chr8:8q24.3
benign|likely benign
NM_201384.3(PLEC):c.4083G>A (p.Arg1361=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000557484]|not provided [RCV000992647]|not specified [RCV000177606] Chr8:143925846 [GRCh38]
Chr8:145000014 [GRCh37]
Chr8:8q24.3
benign
NM_201384.3(PLEC):c.5540G>A (p.Arg1847Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001067635]|Inborn genetic diseases [RCV002517718]|not provided [RCV000725062]|not specified [RCV000177607] Chr8:143924389 [GRCh38]
Chr8:144998557 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5965C>A (p.Arg1989Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648486]|Inborn genetic diseases [RCV002516742]|not provided [RCV000177608] Chr8:143923964 [GRCh38]
Chr8:144998132 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6303G>A (p.Glu2101=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088939]|not provided [RCV000177609] Chr8:143923626 [GRCh38]
Chr8:144997794 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001079141]|not provided [RCV000725386] Chr8:143924133 [GRCh38]
Chr8:144998301 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088128]|not provided [RCV000177611] Chr8:143922735 [GRCh38]
Chr8:144996903 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000545545]|not provided [RCV000724193]|not specified [RCV003987424] Chr8:143924905 [GRCh38]
Chr8:144999073 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001085664]|not provided [RCV000724191] Chr8:143925696 [GRCh38]
Chr8:144999864 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001084155]|not provided [RCV000585322]|not specified [RCV000177614] Chr8:143923335 [GRCh38]
Chr8:144997503 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000705315]|Inborn genetic diseases [RCV002516743]|not provided [RCV000724247] Chr8:143922546 [GRCh38]
Chr8:144996714 [GRCh37]
Chr8:8q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000554395]|Inborn genetic diseases [RCV002517719]|PLEC-related condition [RCV003907604]|not provided [RCV000724990] Chr8:143923393 [GRCh38]
Chr8:144997561 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001083171]|not provided [RCV000724225] Chr8:143922867 [GRCh38]
Chr8:144997035 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6083C>T (p.Ala2028Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000764751]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001071686]|Inborn genetic diseases [RCV002516744]|not provided [RCV000177618] Chr8:143923846 [GRCh38]
Chr8:144998014 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.7188G>A (p.Gln2396=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001433609]|not provided [RCV000177619] Chr8:143922741 [GRCh38]
Chr8:144996909 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5304G>A (p.Leu1768=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001083734]|not provided [RCV000415964]|not specified [RCV000177621] Chr8:143924625 [GRCh38]
Chr8:144998793 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5873C>T (p.Thr1958Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001085671]|not provided [RCV000177622] Chr8:143924056 [GRCh38]
Chr8:144998224 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088197]|not provided [RCV000177623] Chr8:143923981 [GRCh38]
Chr8:144998149 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001082061]|not provided [RCV000177624] Chr8:143922828 [GRCh38]
Chr8:144996996 [GRCh37]
Chr8:8q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.5922G>C (p.Gln1974His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000526150]|PLEC-related condition [RCV003927649]|not specified [RCV000177625] Chr8:143924007 [GRCh38]
Chr8:144998175 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.4526G>A (p.Arg1509His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000530100]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000764754]|not provided [RCV000712741] Chr8:143925403 [GRCh38]
Chr8:144999571 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.6001G>A (p.Ala2001Thr) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001852194]|not provided [RCV000177627] Chr8:143923928 [GRCh38]
Chr8:144998096 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5471C>T (p.Ala1824Val) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000785605]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001086527]|Inborn genetic diseases [RCV002516745]|PLEC-related condition [RCV003937607]|not provided [RCV001704846]|not specified [RCV000177628] Chr8:143924458 [GRCh38]
Chr8:144998626 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001083891]|PLEC-related condition [RCV003907605]|not provided [RCV000724739]|not specified [RCV000177629] Chr8:143923731 [GRCh38]
Chr8:144997899 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.6486A>C (p.Ala2162=) single nucleotide variant not provided [RCV000177630] Chr8:143923443 [GRCh38]
Chr8:144997611 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000764752]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001223236]|Inborn genetic diseases [RCV002516746]|not provided [RCV000724704] Chr8:143924614 [GRCh38]
Chr8:144998782 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8607G>A (p.Glu2869=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001088452]|not provided [RCV000177677] Chr8:143921214 [GRCh38]
Chr8:144995382 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.12080A>G (p.Gln4027Arg) single nucleotide variant not provided [RCV000177678] Chr8:143917741 [GRCh38]
Chr8:144991909 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.11720C>T (p.Thr3907Met) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001083547]|not provided [RCV000576279]|not specified [RCV000177683] Chr8:143918101 [GRCh38]
Chr8:144992269 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_201384.3(PLEC):c.10744G>A (p.Gly3582Ser) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000534001]|not provided [RCV000723631] Chr8:143919077 [GRCh38]
Chr8:144993245 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001078550]|not provided [RCV000177685] Chr8:143916750 [GRCh38]
Chr8:144990918 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.13533C>T (p.Ser4511=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV002054100]|not provided [RCV000177686] Chr8:143916288 [GRCh38]
Chr8:144990456 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.8182A>G (p.Ile2728Val) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000648620]|PLEC-related condition [RCV003947503]|not provided [RCV001721118]|not specified [RCV000177687] Chr8:143921639 [GRCh38]
Chr8:144995807 [GRCh37]
Chr8:8q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001082916]|PLEC-related condition [RCV003937608]|not provided [RCV000723606] Chr8:143921315 [GRCh38]
Chr8:144995483 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.8786A>C (p.Asn2929Thr) single nucleotide variant not provided [RCV000177689] Chr8:143921035 [GRCh38]
Chr8:144995203 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.10498C>T (p.Arg3500Cys) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV000537688]|not provided [RCV001704847]|not specified [RCV000177690] Chr8:143919323 [GRCh38]
Chr8:144993491 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.10533C>G (p.Gly3511=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV003765096]|not provided [RCV000177691] Chr8:143919288 [GRCh38]
Chr8:144993456 [GRCh37]
Chr8:8q24.3
likely benign|uncertain significance
NM_201384.3(PLEC):c.11480G>C (p.Gly3827Ala) single nucleotide variant not provided [RCV000177692] Chr8:143918341 [GRCh38]
Chr8:144992509 [GRCh37]
Chr8:8q24.3
uncertain significance
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) single nucleotide variant Arrhythmogenic right ventricular dysplasia 1 [RCV000785606]|Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001080318]|PLEC-related condition [RCV003398892]|not provided [RCV000725505]|not specified [RCV000177693] Chr8:143921770 [GRCh38]
Chr8:144995938 [GRCh37]
Chr8:8q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) single nucleotide variant Epidermolysis bullosa simplex 5B, with muscular dystrophy [RCV001082161]|not provided [RCV000512985]|not specified [RCV00017769