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

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Plec (plectin)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Plec (plectin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Plec (plectin)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PLEC (plectin)	NCBI	Ortholog
Canis lupus familiaris (dog):	PLEC (plectin)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	LOC101957084 (plectin)	NCBI	Ortholog
Sus scrofa (pig):	PLEC (plectin)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	PLEC (plectin)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Macf1 (microtubule-actin crosslinking factor 1)	HGNC	OrthoMCL
Mus musculus (house mouse):	Dst (dystonin)	HGNC	OrthoMCL
Mus musculus (house mouse):	Dsp (desmoplakin)	HGNC	OrthoMCL
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Plec (plectin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Plec (plectin)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	pleca (plectin a)	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	plecb	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	plec	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	plec.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

LOC100418700

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	143,915,153 - 143,976,745 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	143,915,153 - 143,976,734 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	144,989,321 - 145,050,913 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	145,061,309 - 145,121,531 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	145,061,308 - 145,121,531	NCBI
Celera	8	141,303,490 - 141,364,268 (-)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	140,243,473 - 140,304,261 (-)	NCBI		HuRef
CHM1_1	8	145,029,546 - 145,091,031 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	145,073,432 - 145,135,033 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

arrhythmogenic right ventricular dysplasia 1 (IAGP)

autosomal recessive limb-girdle muscular dystrophy (IAGP)

autosomal recessive limb-girdle muscular dystrophy type 2Q (IAGP)

Brown-Vialetto-Van Laere syndrome 2 (IAGP)

dilated cardiomyopathy (IAGP)

epidermolysis bullosa simplex (IAGP)

Epidermolysis Bullosa Simplex 5C with Pyloric Atresia (EXP,IAGP)

Epidermolysis Bullosa Simplex 5D with Nail Dystrophy (IAGP)

epidermolysis bullosa simplex Ogna type (EXP,IAGP,ISS)

epidermolysis bullosa simplex with muscular dystrophy (EXP,IAGP,ISS)

genetic disease (IAGP)

holoprosencephaly (IAGP)

junctional epidermolysis bullosa with pyloric atresia (EXP,IAGP)

myopathy (IAGP)

Recombinant Chromosome 8 Syndrome (IAGP)

Schwartz-Jampel syndrome 1 (IAGP)

Silverman-Handmaker type dyssegmental dysplasia (IAGP)

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)

amitrole (ISO)

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)

beta-lapachone (EXP)

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) chloride (EXP)

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 diacetate (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)

triphenyl phosphate (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)

negative regulation of protein kinase activity (ISO)

nucleus organization (IEA)

peripheral nervous system myelin maintenance (IEA)

protein localization (IEA)

protein-containing complex organization (IEA)

regulation of ATP citrate synthase activity (ISO)

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

anchoring junction (IEA)

apical plasma membrane (ISO)

axon (IEA,ISO)

basal plasma membrane (ISO)

brush border (IEA)

cell periphery (IEA,ISO)

cell projection (IEA)

contractile muscle fiber (IEA)

costamere (TAS)

cytoplasm (IEA,ISO)

cytoskeleton (IEA)

cytosol (IDA,TAS)

dendrite (IEA,ISO)

extracellular exosome (HDA)

focal adhesion (HDA,IBA,IDA)

hemidesmosome (IBA,IDA,IEA)

intermediate filament (IBA)

intermediate filament cytoskeleton (IDA)

mitochondrial outer membrane (IEA,ISO)

myelin sheath (IEA,ISO)

myofibril (IEA,ISO)

perinuclear region of cytoplasm (IBA,ISO)

plasma membrane (NAS)

podosome (IEA,ISS)

sarcolemma (IBA,IDA,IEA,ISO)

sarcoplasm (ISS)

Z disc (IEA,ISO)

Molecular Function

actin binding (IEA)

actin filament binding (IEA)

ankyrin binding (IBA,IPI)

cadherin binding (HDA)

cytoskeletal protein binding (ISO)

dystroglycan binding (IEA)

identical protein binding (IEA)

protein binding (IPI,ISO)

RNA binding (HDA)

structural constituent of cytoskeleton (IBA,ISO)

structural constituent of muscle (IMP,TAS)

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-neuromuscular Junction 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)

Elevated maternal circulating alpha-fetoprotein 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:25253489	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:30884312	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:34349018	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:35235311	PMID:35256949
PMID:35271311	PMID:35446349	PMID:35474131	PMID:35509820	PMID:35516420	PMID:35563538	PMID:35568845	PMID:35575683	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:37039823	PMID:37052853
PMID:37059927	PMID:37071682	PMID:37117185	PMID:37120454	PMID:37174658	PMID:37262182	PMID:37348651	PMID:37393735	PMID:37433992	PMID:37616343	PMID:37632650	PMID:37640791
PMID:37716646	PMID:37827155	PMID:37939376	PMID:38247853	PMID:38322534	PMID:38334954	PMID:38697112	PMID:39358380	PMID:39506849

Genomics

Comparative Map Data

PLEC
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	8	143,915,153 - 143,976,745 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	8	143,915,153 - 143,976,734 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	8	144,989,321 - 145,050,913 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	8	145,061,309 - 145,121,531 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	8	145,061,308 - 145,121,531	NCBI
Celera	8	141,303,490 - 141,364,268 (-)	NCBI		Celera
Cytogenetic Map	8	q24.3	NCBI
HuRef	8	140,243,473 - 140,304,261 (-)	NCBI		HuRef
CHM1_1	8	145,029,546 - 145,091,031 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	8	145,073,432 - 145,135,033 (-)	NCBI		T2T-CHM13v2.0

Plec
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	76,055,174 - 76,115,578 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	76,055,174 - 76,116,774 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	76,170,974 - 76,231,378 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	76,170,974 - 76,232,574 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	76,001,404 - 76,061,808 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	75,998,231 - 76,058,633 (-)	NCBI		MGSCv36	mm8
Celera	15	77,670,771 - 77,731,324 (-)	NCBI		Celera
Cytogenetic Map	15	D3	NCBI
cM Map	15	35.48	NCBI

Plec
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	109,768,447 - 109,829,798 (-)	NCBI		GRCr8
mRatBN7.2	7	107,887,764 - 107,949,100 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	107,887,764 - 107,945,467 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	109,631,418 - 109,690,909 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	111,855,099 - 111,914,591 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	111,813,628 - 111,873,076 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	117,230,319 - 117,291,859 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	117,230,319 - 117,289,961 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	117,215,919 - 117,277,093 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	114,202,742 - 114,262,385 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	114,236,973 - 114,271,955 (-)	NCBI
Celera	7	104,240,654 - 104,299,857 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Plec
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955454	2,583,138 - 2,643,211 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955454	2,583,138 - 2,644,308 (-)	NCBI	ChiLan1.0	ChiLan1.0

PLEC
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	7	161,404,304 - 161,465,828 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	8	136,934,031 - 136,995,506 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	8	140,681,252 - 140,742,753 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	8	143,673,672 - 143,711,211 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	8	143,674,696 - 143,712,433 (-)	Ensembl	panpan1.1		panPan2

PLEC
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	13	37,449,379 - 37,503,752 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	13	37,450,248 - 37,513,523 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	13	37,413,420 - 37,467,660 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	13	37,924,192 - 37,980,292 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	13	37,872,891 - 37,979,994 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	13	37,599,296 - 37,631,689 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	13	37,726,376 - 37,780,585 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	13	38,203,929 - 38,236,330 (-)	NCBI		UU_Cfam_GSD_1.0

LOC101957084
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405303	756,507 - 826,040 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	8,216,205 - 8,250,978 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	8,194,124 - 8,252,139 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PLEC
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	689,034 - 753,696 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	696,355 - 753,859 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

PLEC
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	8	138,125,471 - 138,187,209 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	8	138,125,280 - 138,149,364 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666039	1,686,663 - 1,748,404 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in PLEC
5443 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]\|Inborn genetic diseases [RCV004023556]\|PLEC-related disorder [RCV004737598]\|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]\|Inborn genetic diseases [RCV004649199]\|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]\|Inborn genetic diseases [RCV004024176]\|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 disorder [RCV004543189]\|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 disorder [RCV004541614]\|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]\|PLEC-related disorder [RCV004737822]\|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	PLEC-related disorder [RCV004737594]\|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]\|PLEC-related disorder [RCV004737592]\|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]\|Inborn genetic diseases [RCV004024178]	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 disorder [RCV004541612]\|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 disorder [RCV004527656]	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 disorder [RCV004543192]\|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 disorder [RCV004540030]\|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]\|PLEC-related disorder [RCV004737979]\|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]\|Inborn genetic diseases [RCV004649297]\|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 disorder [RCV004535810]\|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]\|Inborn genetic diseases [RCV004026934]\|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 disorder [RCV004535811]\|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]\|Inborn genetic diseases [RCV004026971]\|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 disorder [RCV004543190]	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]\|Inborn genetic diseases [RCV004024175]\|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]\|Inborn genetic diseases [RCV004023566]\|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 disorder [RCV004530806]\|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 disorder [RCV004541613]\|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]\|Inborn genetic diseases [RCV004024181]\|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]\|Inborn genetic diseases [RCV004024449]	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]\|PLEC-related disorder [RCV004737820]\|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]\|PLEC-related disorder [RCV004722909]\|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\|conflicting interpretations of pathogenicity\|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 disorder [RCV004543277]\|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 disorder [RCV004543279]	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]\|not provided [RCV003992330]	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] Chr8:143916167..143916168 [GRCh38] Chr8:144990335 [GRCh37] Chr8:144990335..144990336 [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 provided [RCV004712010]\|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 disorder [RCV004537313]\|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 disorder [RCV004542753]\|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] Chr8:143919156..143919157 [GRCh38] Chr8:144993324 [GRCh37] Chr8:144993324..144993325 [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 disorder [RCV004537314]\|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] Chr8:143918193..143918194 [GRCh38] Chr8:144992361 [GRCh37] Chr8:144992361..144992362 [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 disorder [RCV004537315]\|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] Chr8:143917008..143917009 [GRCh38] Chr8:144991176 [GRCh37] Chr8:144991176..144991177 [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 disorder [RCV004542754]\|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 provided [RCV004712011]\|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 provided [RCV004712012]\|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 disorder [RCV004537316]\|not provided [RCV004706478]\|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 provided [RCV004712013]\|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 provided [RCV004712014]\|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 disorder [RCV004537317]\|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 provided [RCV004712015]\|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 provided [RCV004712016]\|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] Chr8:143925453..143925454 [GRCh38] Chr8:144999621 [GRCh37] Chr8:144999621..144999622 [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]\|PLEC-related disorder [RCV004737185]\|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 provided [RCV004712017]\|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 provided [RCV004704836]\|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 provided [RCV004706479]\|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 disorder [RCV004537318]\|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]	Chr8:1439

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