LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) - Rat Genome Database

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Gene: LARGE1 (LARGE xylosyl- and glucuronyltransferase 1) Homo sapiens
Analyze
Symbol: LARGE1
Name: LARGE xylosyl- and glucuronyltransferase 1
RGD ID: 1318927
HGNC Page HGNC:6511
Description: Enables glucuronosyltransferase activity; manganese ion binding activity; and xylosyltransferase activity. Involved in protein O-linked mannosylation. Located in Golgi apparatus. Implicated in congenital muscular dystrophy-dystroglycanopathy type A6 and muscular dystrophy-dystroglycanopathy type B6.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1; KIAA0609; LARGE; like-acetylglucosaminyltransferase; like-glycosyltransferase; MDC1D; MDDGA6; MDDGB6; xylosyl- and glucuronyltransferase LARGE1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382233,066,663 - 33,922,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2233,162,226 - 33,922,841 (-)EnsemblGRCh38hg38GRCh38
GRCh372233,668,495 - 34,318,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362231,999,063 - 32,646,410 (-)NCBINCBI36Build 36hg18NCBI36
Build 342231,993,616 - 32,640,964NCBI
Celera2217,471,158 - 18,118,297 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2216,626,665 - 17,273,268 (-)NCBIHuRef
CHM1_12233,628,484 - 34,276,127 (-)NCBICHM1_1
T2T-CHM13v2.02233,627,091 - 34,380,164 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP,ISO)
Aflatoxin B2 alpha  (EXP)
aristolochic acid A  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
butanal  (EXP)
cadmium atom  (EXP)
chloroprene  (ISO)
cisplatin  (EXP,ISO)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
dibutyl phthalate  (ISO)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fonofos  (EXP)
fulvestrant  (EXP)
furan  (ISO)
glyphosate  (ISO)
menadione  (EXP)
methamphetamine  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
methylphenidate  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
O-methyleugenol  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
parathion  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
rimonabant  (ISO)
rotenone  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sunitinib  (EXP)
temozolomide  (EXP)
terbufos  (EXP)
testosterone  (EXP)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
urethane  (EXP)
valproic acid  (EXP)
venlafaxine hydrochloride  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
acetylcholine receptor signaling pathway  (IEA)
astrocyte differentiation  (IEA)
basement membrane organization  (IEA)
behavioral fear response  (IEA)
blood vessel development  (IEA)
bone development  (IEA)
brain development  (IEA)
cardiac muscle cell development  (IEA)
cardiac muscle tissue development  (IEA)
chemical synaptic transmission  (IEA)
connective tissue development  (IEA)
cytoskeleton organization  (IEA)
dentate gyrus development  (IEA)
determination of adult lifespan  (IEA)
gene expression  (IEA)
glycoprotein biosynthetic process  (IEA,TAS)
glycoprotein metabolic process  (IEA)
glycosphingolipid biosynthetic process  (TAS)
heart development  (IEA)
intracellular protein transport  (IEA)
limb development  (IEA)
localization of cell  (IEA)
long-term synaptic potentiation  (IEA)
macrophage differentiation  (IEA)
memory  (IEA)
multicellular organism growth  (IEA)
muscle cell cellular homeostasis  (IEA,ISS)
muscle organ development  (IEA)
myelination  (IEA)
myotube differentiation  (IEA)
N-acetylglucosamine metabolic process  (TAS)
nerve development  (IEA)
neuromuscular junction development  (IEA)
neuromuscular process  (IEA)
neuromuscular process controlling posture  (IEA)
neuromuscular synaptic transmission  (IEA)
neuron migration  (IEA)
plasma membrane organization  (IEA)
post-embryonic hindlimb morphogenesis  (IEA)
post-translational protein modification  (IEA)
potassium ion transmembrane transport  (IEA)
principal sensory nucleus of trigeminal nerve development  (IEA)
protein deglycosylation  (ISO)
protein glycosylation  (IEA,IMP,TAS)
protein localization  (IEA)
protein localization to membrane  (IEA)
protein localization to plasma membrane  (IEA)
protein modification process  (IEA)
protein O-linked glycosylation  (IEA,TAS)
protein O-linked mannosylation  (IBA,IDA,IEA)
protein phosphorylation  (ISO)
protein targeting to membrane  (IEA)
protein-containing complex assembly  (IEA)
reactive gliosis  (IEA)
regulation of kinase activity  (ISO)
regulation of synaptic plasticity  (IEA)
response to light stimulus  (IEA)
response to mechanical stimulus  (IEA)
retina development in camera-type eye  (IEA)
retina layer formation  (IEA)
retina vasculature development in camera-type eye  (IEA)
sensory perception of sound  (IEA)
skeletal muscle fiber development  (IEA)
skeletal muscle fiber differentiation  (IEA)
skeletal muscle organ development  (IEA,ISS)
skeletal muscle tissue regeneration  (IEA,ISO,ISS)
striated muscle cell development  (IEA)
striated muscle contraction  (IEA)
synapse organization  (IEA)
synaptic assembly at neuromuscular junction  (IEA)
transmembrane transport  (IEA)
walking behavior  (IEA)
water transport  (IEA)

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal cerebellar vermis morphology  (IAGP)
Abnormal circulating aldolase concentration  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal circulating lactate dehydrogenase concentration  (IAGP)
Abnormal cortical gyration  (IAGP)
Abnormal optic nerve morphology  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pons morphology  (IAGP)
Abnormal speech pattern  (IAGP)
Abnormality of connective tissue  (IAGP)
Abnormality of movement  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of the eye  (IAGP)
Abnormality of the nervous system  (IAGP)
Abnormality of the tongue muscle  (IAGP)
Abnormality of the voice  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (IAGP)
Achilles tendon contracture  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agyria  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Aplasia of the inferior half of the cerebellar vermis  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Aplasia/Hypoplasia of the cerebellum  (IAGP)
Areflexia  (IAGP)
Atresia of the external auditory canal  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Babinski sign  (IAGP)
Bifid uvula  (IAGP)
Bimanual synkinesia  (IAGP)
Blindness  (IAGP)
Buphthalmos  (IAGP)
Calf muscle hypertrophy  (IAGP)
Cataract  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (IAGP)
Cerebellar malformation  (IAGP)
Cerebellar vermis hypoplasia  (IAGP)
Cerebral cortical atrophy  (IAGP)
Chorioretinal dysplasia  (IAGP)
Cleft palate  (IAGP)
Cleft upper lip  (IAGP)
Cognitive impairment  (IAGP)
Coloboma  (IAGP)
Congenital contracture  (IAGP)
Congenital onset  (IAGP)
Corneal opacity  (IAGP)
Cryptorchidism  (IAGP)
Dandy-Walker malformation  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Delayed ability to sit  (IAGP)
Delayed ability to walk  (IAGP)
Developmental cataract  (IAGP)
Dilated third ventricle  (IAGP)
EEG abnormality  (IAGP)
Elbow flexion contracture  (IAGP)
Elevated circulating aspartate aminotransferase concentration  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Excessive daytime somnolence  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of skeletal muscles  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Horizontal nystagmus  (IAGP)
Hydrocephalus  (IAGP)
Hypertonia  (IAGP)
Hypoglycosylation of alpha-dystroglycan  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Increased circulating lactate dehydrogenase concentration  (IAGP)
Increased endomysial connective tissue  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Iris coloboma  (IAGP)
Joint contracture of the hand  (IAGP)
Kinked brainstem  (IAGP)
Lateral ventricle dilatation  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Lissencephaly  (IAGP)
Loss of ambulation  (IAGP)
Low-set ears  (IAGP)
Lower limb hyperreflexia  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Mask-like facies  (IAGP)
Megalocornea  (IAGP)
Meningocele  (IAGP)
Meningoencephalocele  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micrognathia  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Neuropathic spinal arthropathy  (IAGP)
Occipital encephalocele  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Pes valgus  (IAGP)
Peters anomaly  (IAGP)
Pigmentary retinopathy  (IAGP)
Polymicrogyria  (IAGP)
Poor gross motor coordination  (IAGP)
Poor speech  (IAGP)
Posterior fossa cyst  (IAGP)
Posterior synechiae of the anterior chamber  (IAGP)
Posteriorly rotated ears  (IAGP)
Protruding ear  (IAGP)
Proximal muscle weakness  (IAGP)
Reduced muscle fiber alpha dystroglycan  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal dysplasia  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal atrophy  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Rod-cone dystrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Short stature  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Sloping forehead  (IAGP)
Specific learning disability  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Type II lissencephaly  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Mutant glycosyltransferase and altered glycosylation of alpha-dystroglycan in the myodystrophy mouse. Grewal PK, etal., Nat Genet 2001 Jun;28(2):151-4.
3. Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Longman C, etal., Hum Mol Genet 2003 Nov 1;12(21):2853-61. Epub 2003 Sep 9.
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:9628581   PMID:9892679   PMID:10591208   PMID:12140558   PMID:12477932   PMID:15184894   PMID:15210115   PMID:15461802   PMID:15489334   PMID:15661757   PMID:15752776   PMID:15958417  
PMID:17436019   PMID:17878207   PMID:18519826   PMID:19244252   PMID:19299310   PMID:19587235   PMID:20201926   PMID:20301468   PMID:20379614   PMID:20800603   PMID:21203384   PMID:21248746  
PMID:21727005   PMID:21873635   PMID:21987822   PMID:22223806   PMID:22589738   PMID:23705025   PMID:23870195   PMID:24132234   PMID:24165912   PMID:24629698   PMID:24709677   PMID:24722188  
PMID:24962325   PMID:25138275   PMID:25279697   PMID:25279699   PMID:26186194   PMID:27173435   PMID:27636103   PMID:28514442   PMID:31054580   PMID:31343991   PMID:32975514   PMID:33588034  
PMID:33961781   PMID:34452470  


Genomics

Comparative Map Data
LARGE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382233,066,663 - 33,922,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2233,162,226 - 33,922,841 (-)EnsemblGRCh38hg38GRCh38
GRCh372233,668,495 - 34,318,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362231,999,063 - 32,646,410 (-)NCBINCBI36Build 36hg18NCBI36
Build 342231,993,616 - 32,640,964NCBI
Celera2217,471,158 - 18,118,297 (-)NCBICelera
Cytogenetic Map22q12.3NCBI
HuRef2216,626,665 - 17,273,268 (-)NCBIHuRef
CHM1_12233,628,484 - 34,276,127 (-)NCBICHM1_1
T2T-CHM13v2.02233,627,091 - 34,380,164 (-)NCBIT2T-CHM13v2.0
Large1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39873,541,227 - 74,080,164 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl873,541,227 - 74,080,168 (-)EnsemblGRCm39 Ensembl
GRCm38872,814,598 - 73,353,721 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl872,814,599 - 73,353,540 (-)EnsemblGRCm38mm10GRCm38
MGSCv37875,338,498 - 75,876,455 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36875,710,671 - 76,248,628 (-)NCBIMGSCv36mm8
Celera877,131,292 - 77,664,765 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map835.08NCBI
Large1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81911,609,004 - 12,057,174 (-)NCBIGRCr8
mRatBN7.21911,603,129 - 12,048,930 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1911,603,129 - 12,048,930 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1911,566,884 - 12,016,406 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01912,332,087 - 12,781,613 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01911,619,081 - 12,068,592 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01912,481,563 - 12,945,320 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1912,481,540 - 12,942,963 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01923,595,328 - 24,054,765 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41912,043,818 - 12,497,663 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11912,049,826 - 12,369,988 (-)NCBI
Celera1911,480,096 - 11,923,685 (-)NCBICelera
Cytogenetic Map19p12-p11NCBI
Large1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540541,931,058 - 42,139,608 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540541,891,430 - 42,225,066 (-)NCBIChiLan1.0ChiLan1.0
LARGE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22343,009,740 - 43,861,899 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12245,708,047 - 46,559,753 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02214,077,463 - 14,929,250 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12232,137,280 - 32,778,639 (-)NCBIpanpan1.1PanPan1.1panPan2
LARGE1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11029,875,381 - 30,396,934 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1029,919,521 - 30,395,787 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1029,820,809 - 30,340,676 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01030,671,995 - 31,198,842 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1030,669,187 - 31,236,024 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11030,391,521 - 30,940,790 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01030,706,807 - 31,228,831 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01030,887,220 - 31,413,494 (+)NCBIUU_Cfam_GSD_1.0
Large1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494513,148,086 - 13,647,077 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364926,289,517 - 6,659,465 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364926,160,979 - 6,657,491 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LARGE1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa10.25110,211,538 - 110,349,654 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LARGE1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11916,080,482 - 16,704,968 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1916,080,430 - 16,549,495 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666045109,305,163 - 109,923,917 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Large1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247501,286,336 - 1,527,159 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247501,190,712 - 1,524,051 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

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Variants in LARGE1
952 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_133642.5(LARGE1):c.161A>C (p.Tyr54Ser) single nucleotide variant not provided [RCV000518919] Chr22:33650614 [GRCh38]
Chr22:34046600 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.493C>T (p.Arg165Trp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000545614]|not provided [RCV000997912] Chr22:33604557 [GRCh38]
Chr22:34000543 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(33756233_33756918)_(33759931_33760459)delins42.9KB indel Muscular dystrophy-dystroglycanopathy type B6 [RCV000023313] Chr22:33756918..33759931 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000006594] Chr22:33304434 [GRCh38]
Chr22:33700420 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1999dup (p.Cys667fs) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV000006595] Chr22:33277133..33277134 [GRCh38]
Chr22:33673119..33673120 [GRCh37]
Chr22:22q12.3		 pathogenic
NG_009929.2:g.523149_586240del deletion Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000006596] Chr22:22q12.3-q13.1 pathogenic
NM_133642.5(LARGE1):c.1483T>C (p.Trp495Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000006597] Chr22:33304476 [GRCh38]
Chr22:33700462 [GRCh37]
Chr22:22q12.3		 pathogenic
LARGE1, GLN87FS variation Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000006598] Chr22:22q12.3-q13.1 pathogenic
NM_133642.5(LARGE1):c.992C>T (p.Ser331Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000006599] Chr22:33384205 [GRCh38]
Chr22:33780191 [GRCh37]
Chr22:22q12.3		 pathogenic
LARGE1, 667FS variation Muscular dystrophy-dystroglycanopathy type B6 [RCV000006600] Chr22:22q12.3-q13.1 pathogenic
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001143857]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000543500] Chr22:33650587 [GRCh38]
Chr22:34046573 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.584G>A (p.Arg195His) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145530]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000640137]|not provided [RCV003129954] Chr22:33604466 [GRCh38]
Chr22:34000452 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1380C>T (p.Phe460=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640139] Chr22:33316156 [GRCh38]
Chr22:33712142 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.336G>A (p.Glu112=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640140] Chr22:33650439 [GRCh38]
Chr22:34046425 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2257G>A (p.Glu753Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001862164]|not provided [RCV000729018] Chr22:33274441 [GRCh38]
Chr22:33670427 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.703C>T (p.Leu235=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000559576]|not specified [RCV000616903] Chr22:33564932 [GRCh38]
Chr22:33960918 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.266G>A (p.Arg89Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000552231]|not provided [RCV001573121] Chr22:33650509 [GRCh38]
Chr22:34046495 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.577G>A (p.Ala193Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000547158] Chr22:33604473 [GRCh38]
Chr22:34000459 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.746C>A (p.Thr249Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000547514]|not provided [RCV003129892] Chr22:33564889 [GRCh38]
Chr22:33960875 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.788-9659A>C single nucleotide variant Lung cancer [RCV000102031] Chr22:33441924 [GRCh38]
Chr22:33837910 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.788-24604C>A single nucleotide variant Lung cancer [RCV000102032] Chr22:33456869 [GRCh38]
Chr22:33852855 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.788-33242G>C single nucleotide variant Lung cancer [RCV000102033] Chr22:33465507 [GRCh38]
Chr22:33861493 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.616-14503C>T single nucleotide variant Lung cancer [RCV000102034] Chr22:33579522 [GRCh38]
Chr22:33975508 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.409-6369T>C single nucleotide variant Lung cancer [RCV000102035] Chr22:33632695 [GRCh38]
Chr22:34028680 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.107-17590C>T single nucleotide variant Lung cancer [RCV000102036] Chr22:33668258 [GRCh38]
Chr22:34064244 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.107-27131G>A single nucleotide variant Lung cancer [RCV000102037] Chr22:33677799 [GRCh38]
Chr22:34073785 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_004737.4(LARGE):c.-145-25525C>T single nucleotide variant Lung cancer [RCV000102038] Chr22:33882327 [GRCh38]
Chr22:34278315 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q12.1-12.3(chr22:26979579-33992220)x3 copy number gain See cases [RCV000050553] Chr22:26979579..33992220 [GRCh38]
Chr22:27375542..34388209 [GRCh37]
Chr22:25705542..32718209 [NCBI36]
Chr22:22q12.1-12.3		 pathogenic
GRCh38/hg38 22q12.3(chr22:33754145-33786313)x1 copy number loss See cases [RCV000051361] Chr22:33754145..33786313 [GRCh38]
Chr22:34150132..34182300 [GRCh37]
Chr22:32480132..32512300 [NCBI36]
Chr22:22q12.3		 pathogenic
GRCh38/hg38 22q12.3(chr22:33757753-33862859)x1 copy number loss See cases [RCV000051362] Chr22:33757753..33862859 [GRCh38]
Chr22:34153740..34258847 [GRCh37]
Chr22:32483740..32588847 [NCBI36]
Chr22:22q12.3		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q12.3(chr22:32950725-33413352)x1 copy number loss See cases [RCV000052873] Chr22:32950725..33413352 [GRCh38]
Chr22:33346710..33809338 [GRCh37]
Chr22:31676710..32139338 [NCBI36]
Chr22:22q12.3		 pathogenic
GRCh38/hg38 22q12.3(chr22:33380871-33754201)x1 copy number loss See cases [RCV000052874] Chr22:33380871..33754201 [GRCh38]
Chr22:33776857..34150188 [GRCh37]
Chr22:32106857..32480188 [NCBI36]
Chr22:22q12.3		 pathogenic
NM_004737.4(LARGE):c.2209G>A (p.Asp737Asn) single nucleotide variant Malignant melanoma [RCV000072951] Chr22:33274489 [GRCh38]
Chr22:33670475 [GRCh37]
Chr22:32000475 [NCBI36]
Chr22:22q12.3		 not provided
NM_133642.5(LARGE1):c.1792G>A (p.Glu598Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002513788]|not provided [RCV000171355]|not specified [RCV000504467] Chr22:33283287 [GRCh38]
Chr22:33679273 [GRCh37]
Chr22:32009273 [NCBI36]
Chr22:22q12.3		 likely pathogenic|uncertain significance|not provided
NM_133642.5(LARGE1):c.-31G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000298606]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000276314]|not provided [RCV001618252]|not specified [RCV000081165] Chr22:33761507 [GRCh38]
Chr22:34157494 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_133642.5(LARGE1):c.1102C>T (p.Gln368Ter) single nucleotide variant not provided [RCV000081166] Chr22:33381948 [GRCh38]
Chr22:33777934 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1116C>T (p.Asp372=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002055191]|not provided [RCV000081167] Chr22:33381934 [GRCh38]
Chr22:33777920 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.118G>A (p.Val40Met) single nucleotide variant Inborn genetic diseases [RCV002514432]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001300244]|Muscular dystrophy-dystroglycanopathy type B6 [RCV005025141]|not provided [RCV000081168] Chr22:33650657 [GRCh38]
Chr22:34046643 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1287+11C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002055192]|not provided [RCV000081169] Chr22:33337635 [GRCh38]
Chr22:33733621 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) single nucleotide variant LARGE1-related disorder [RCV003925066]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148299]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000540677]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000764383]|not provided [RCV000710157]|not specified [RCV000192984] Chr22:33316116 [GRCh38]
Chr22:33712102 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.1452-28C>T single nucleotide variant not provided [RCV001596952]|not specified [RCV000081171] Chr22:33304535 [GRCh38]
Chr22:33700521 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.1548C>T (p.Tyr516=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000329680]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001080326]|not provided [RCV000514085]|not specified [RCV000081172] Chr22:33304411 [GRCh38]
Chr22:33700397 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.1644C>T (p.Asn548=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001147368]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001086305]|not provided [RCV000712201]|not specified [RCV000081173] Chr22:33304315 [GRCh38]
Chr22:33700301 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1731-24T>C single nucleotide variant not provided [RCV001647058]|not specified [RCV000081174] Chr22:33283372 [GRCh38]
Chr22:33679358 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.1827A>G (p.Ser609=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000269136]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000560113]|not provided [RCV004713234]|not specified [RCV000081175] Chr22:33283252 [GRCh38]
Chr22:33679238 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.1949G>A (p.Arg650Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000268037]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001079123]|not provided [RCV000536497]|not specified [RCV000081176] Chr22:33277184 [GRCh38]
Chr22:33673170 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000398032]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001080965]|not provided [RCV000710159]|not specified [RCV000081177] Chr22:33277139 [GRCh38]
Chr22:33673125 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.2100C>T (p.Asn700=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000351281]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000525859]|not provided [RCV004703225]|not specified [RCV000081178] Chr22:33274598 [GRCh38]
Chr22:33670584 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.251G>C (p.Ser84Thr) single nucleotide variant LARGE1-related disorder [RCV003915073]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000283898]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000527303]|not provided [RCV001703999]|not specified [RCV000081179] Chr22:33650524 [GRCh38]
Chr22:34046510 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.309C>T (p.Ser103=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000320123]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000544713]|not provided [RCV004703226]|not specified [RCV000081180] Chr22:33650466 [GRCh38]
Chr22:34046452 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.435C>T (p.Ala145=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000373679]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000333062]|not provided [RCV000712204]|not specified [RCV000081181] Chr22:33626300 [GRCh38]
Chr22:34022284 [GRCh37]
Chr22:22q12.3		 benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.576C>T (p.Pro192=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000306958]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000534681]|not provided [RCV004713235]|not specified [RCV000081182] Chr22:33604474 [GRCh38]
Chr22:34000460 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.892+50C>T single nucleotide variant not provided [RCV001563561]|not specified [RCV000081183] Chr22:33432111 [GRCh38]
Chr22:33828097 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.-63C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000376540]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000321834]|not provided [RCV004713325]|not specified [RCV000126571] Chr22:33761539 [GRCh38]
Chr22:34157526 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.893-17C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001522906]|not specified [RCV000126573] Chr22:33384321 [GRCh38]
Chr22:33780307 [GRCh37]
Chr22:22q12.3		 benign
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
NM_133642.5(LARGE1):c.1553A>C (p.Gln518Pro) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001331295] Chr22:33304406 [GRCh38]
Chr22:33700392 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2228G>A (p.Gly743Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001331296]|not provided [RCV003132424] Chr22:33274470 [GRCh38]
Chr22:33670456 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001088205]|not provided [RCV000173808] Chr22:33381979 [GRCh38]
Chr22:33777965 [GRCh37]
Chr22:22q12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1349G>A (p.Arg450His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001320452]|not provided [RCV000174336] Chr22:33316187 [GRCh38]
Chr22:33712173 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1132-8C>T single nucleotide variant LARGE1-related disorder [RCV003955021]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001485092]|not provided [RCV000174107] Chr22:33337809 [GRCh38]
Chr22:33733795 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.1154A>G (p.Lys385Arg) single nucleotide variant not provided [RCV000174108] Chr22:33337779 [GRCh38]
Chr22:33733765 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1234C>T (p.Leu412=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001490466]|not provided [RCV000174109] Chr22:33337699 [GRCh38]
Chr22:33733685 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1976C>T (p.Pro659Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640133]|not provided [RCV000174901] Chr22:33277157 [GRCh38]
Chr22:33673143 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1977G>A (p.Pro659=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001497972]|not provided [RCV000174902] Chr22:33277156 [GRCh38]
Chr22:33673142 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000358052]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001086635]|not provided [RCV000724807] Chr22:33277171 [GRCh38]
Chr22:33673157 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1008T>C (p.Asp336=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000395015]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000538856]|not specified [RCV000146255] Chr22:33382042 [GRCh38]
Chr22:33778028 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.165G>C (p.Thr55=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000402642]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000559185]|not provided [RCV004713376]|not specified [RCV000146256] Chr22:33650610 [GRCh38]
Chr22:34046596 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_133642.5(LARGE1):c.2073+36C>T single nucleotide variant not provided [RCV004713377]|not specified [RCV000146257] Chr22:33277024 [GRCh38]
Chr22:33673010 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) single nucleotide variant Muscular dystrophy [RCV000146258]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000379599]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000555307]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000765632]|not provided [RCV000710160] Chr22:33650564 [GRCh38]
Chr22:34046550 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000331813]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000558587]|not provided [RCV004713378]|not specified [RCV000146260] Chr22:33604498 [GRCh38]
Chr22:34000484 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.615+8C>T single nucleotide variant Muscular dystrophy [RCV000146261]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000873746]|not provided [RCV001719917] Chr22:33604427 [GRCh38]
Chr22:34000413 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q11.23-12.3(chr22:23279231-36247369)x3 copy number gain See cases [RCV000138172] Chr22:23279231..36247369 [GRCh38]
Chr22:23621418..36643415 [GRCh37]
Chr22:21951418..34973361 [NCBI36]
Chr22:22q11.23-12.3		 pathogenic
GRCh38/hg38 22q11.21-12.3(chr22:20907226-37187347)x3 copy number gain See cases [RCV000137926] Chr22:20907226..37187347 [GRCh38]
Chr22:21261514..37583387 [GRCh37]
Chr22:19591514..35913333 [NCBI36]
Chr22:22q11.21-12.3		 pathogenic
GRCh38/hg38 22q12.3(chr22:33711350-33768641)x1 copy number loss See cases [RCV000140094] Chr22:33711350..33768641 [GRCh38]
Chr22:34107336..34164628 [GRCh37]
Chr22:32437336..32494628 [NCBI36]
Chr22:22q12.3		 uncertain significance
GRCh38/hg38 22q12.3(chr22:33456690-33741049)x1 copy number loss See cases [RCV000139657] Chr22:33456690..33741049 [GRCh38]
Chr22:33852676..34137036 [GRCh37]
Chr22:32182676..32467036 [NCBI36]
Chr22:22q12.3		 likely benign|uncertain significance
GRCh38/hg38 22q12.3(chr22:33687894-33711350)x1 copy number loss See cases [RCV000140768] Chr22:33687894..33711350 [GRCh38]
Chr22:34083880..34107336 [GRCh37]
Chr22:32413880..32437336 [NCBI36]
Chr22:22q12.3		 likely benign
GRCh38/hg38 22q12.3(chr22:33460734-33815605)x1 copy number loss See cases [RCV000142141] Chr22:33460734..33815605 [GRCh38]
Chr22:33856720..34211592 [GRCh37]
Chr22:32186720..32541592 [NCBI36]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2255C>G (p.Ala752Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001212199]|not provided [RCV000149996] Chr22:33274443 [GRCh38]
Chr22:33670429 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1788G>A (p.Ala596=) single nucleotide variant LARGE1-related disorder [RCV003891688]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000328489]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001079471]|not provided [RCV000710158]|not specified [RCV000153443] Chr22:33283291 [GRCh38]
Chr22:33679277 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1577G>A (p.Arg526His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001304157]|not provided [RCV000153444] Chr22:33304382 [GRCh38]
Chr22:33700368 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.334G>A (p.Glu112Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000552598]|not provided [RCV000712203] Chr22:33650441 [GRCh38]
Chr22:34046427 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001082074]|not provided [RCV000723745]|not specified [RCV004998304] Chr22:33650565 [GRCh38]
Chr22:34046551 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.72C>T (p.Ile24=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001494381]|not provided [RCV000153447] Chr22:33761405 [GRCh38]
Chr22:34157392 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.179G>A (p.Arg60Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000822389]|not provided [RCV000178219] Chr22:33650596 [GRCh38]
Chr22:34046582 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.408+8G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001081988]|not provided [RCV000724239]|not specified [RCV000178220] Chr22:33650359 [GRCh38]
Chr22:34046345 [GRCh37]
Chr22:22q12.3		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) single nucleotide variant Inborn genetic diseases [RCV002517723]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001087480]|not provided [RCV000724331]|not specified [RCV000178221] Chr22:33650384 [GRCh38]
Chr22:34046370 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1599C>T (p.Ile533=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001147371]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000875961]|not provided [RCV001721256]|not specified [RCV000193827] Chr22:33304360 [GRCh38]
Chr22:33700346 [GRCh37]
Chr22:22q12.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.2213T>C (p.Met738Thr) single nucleotide variant Inborn genetic diseases [RCV002517946]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001071818]|not provided [RCV001509092]|not specified [RCV000194678] Chr22:33274485 [GRCh38]
Chr22:33670471 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.924G>A (p.Arg308=) single nucleotide variant LARGE1-related disorder [RCV003962512]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000549021] Chr22:33384273 [GRCh38]
Chr22:33780259 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000549850] Chr22:33274611 [GRCh38]
Chr22:33670597 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1893G>A (p.Thr631=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000560455] Chr22:33277240 [GRCh38]
Chr22:33673226 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.3(chr22:34146948-34157735)x1 copy number loss See cases [RCV000239926] Chr22:34146948..34157735 [GRCh37]
Chr22:22q12.3		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) single nucleotide variant LARGE1-related disorder [RCV003920157]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000340869]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001079131]|not provided [RCV000726370]|not specified [RCV000296643] Chr22:33381958 [GRCh38]
Chr22:33777944 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.409-21C>T single nucleotide variant not specified [RCV000253743] Chr22:33626347 [GRCh38]
Chr22:34022331 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.409-19C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002058173]|not specified [RCV000249000] Chr22:33626345 [GRCh38]
Chr22:34022329 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2073+12G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002058171]|not specified [RCV000251531] Chr22:33277048 [GRCh38]
Chr22:33673034 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.16A>C (p.Arg6=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001449192]|not specified [RCV000241981] Chr22:33761461 [GRCh38]
Chr22:34157448 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.408+7G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002058172]|not specified [RCV000244643] Chr22:33650360 [GRCh38]
Chr22:34046346 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-29A>G single nucleotide variant not provided [RCV001546395]|not specified [RCV000245245] Chr22:33432294 [GRCh38]
Chr22:33828280 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1451+38C>T single nucleotide variant not provided [RCV001582863]|not specified [RCV000245757] Chr22:33316047 [GRCh38]
Chr22:33712033 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001087615]|not provided [RCV000726777]|not specified [RCV000245884] Chr22:33304348 [GRCh38]
Chr22:33700334 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.178C>T (p.Arg60Trp) single nucleotide variant Inborn genetic diseases [RCV002523216]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000344970]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000797194]|not provided [RCV001579427] Chr22:33650597 [GRCh38]
Chr22:34046583 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1320C>T (p.Asp440=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000388995]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000294676]|not provided [RCV001555777] Chr22:33316216 [GRCh38]
Chr22:33712202 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.*849C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000329750]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000277060] Chr22:33273578 [GRCh38]
Chr22:33669564 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-34G>A single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000263455]|Walker-Warburg congenital muscular dystrophy [RCV000353576] Chr22:33761510 [GRCh38]
Chr22:34157497 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-399A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000280300]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000335398] Chr22:33920311 [GRCh38]
Chr22:34316299 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145529]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001145528]|not provided [RCV000304585] Chr22:33384288 [GRCh38]
Chr22:33780274 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.*479A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000259275]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000316887] Chr22:33273948 [GRCh38]
Chr22:33669934 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*740A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000344623]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000310804] Chr22:33273687 [GRCh38]
Chr22:33669673 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.857G>A (p.Arg286His) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000360485]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000395009]|not provided [RCV001509093] Chr22:33432196 [GRCh38]
Chr22:33828182 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.26G>A (p.Arg9Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000371003]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000792829]|not provided [RCV002487504]|not specified [RCV000501075] Chr22:33761451 [GRCh38]
Chr22:34157438 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.163A>G (p.Thr55Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000394208]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001086593]|not provided [RCV000712200]|not specified [RCV000417616] Chr22:33650612 [GRCh38]
Chr22:34046598 [GRCh37]
Chr22:22q12.3		 benign|likely benign|uncertain significance
NM_133642.5(LARGE1):c.*580C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000394175]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000314409] Chr22:33273847 [GRCh38]
Chr22:33669833 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*798G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000342009]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000279989] Chr22:33273629 [GRCh38]
Chr22:33669615 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-343C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000327982]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000272846] Chr22:33920255 [GRCh38]
Chr22:34316243 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2208G>A (p.Gln736=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000350180]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000405750]|not specified [RCV000501820] Chr22:33274490 [GRCh38]
Chr22:33670476 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.-455G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000281487]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000404821] Chr22:33920367 [GRCh38]
Chr22:34316355 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*207G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000320439]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000377354]|not provided [RCV001533907] Chr22:33274220 [GRCh38]
Chr22:33670206 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.*823_*824dup duplication Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000372333]|Walker-Warburg congenital muscular dystrophy [RCV000319958] Chr22:33273602..33273603 [GRCh38]
Chr22:33669588..33669589 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*856G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000307401]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000369124] Chr22:33273571 [GRCh38]
Chr22:33669557 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.*796C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000380209]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000283419] Chr22:33273631 [GRCh38]
Chr22:33669617 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.*501T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000371148]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000274445] Chr22:33273926 [GRCh38]
Chr22:33669912 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-83+63184A>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000287982]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000382390] Chr22:33856811 [GRCh38]
Chr22:34252799 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*154C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000289988]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000347331]|not provided [RCV001618604] Chr22:33274273 [GRCh38]
Chr22:33670259 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.*100C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000290591]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000380970] Chr22:33274327 [GRCh38]
Chr22:33670313 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-397C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000388507]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000334008]|not provided [RCV004713780] Chr22:33920309 [GRCh38]
Chr22:34316297 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.-177C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000348231]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000293351]|not provided [RCV001643042] Chr22:33920089 [GRCh38]
Chr22:33920089..33920090 [GRCh38]
Chr22:34316077 [GRCh37]
Chr22:34316077..34316078 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.*1235A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000336013]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000395049] Chr22:33273192 [GRCh38]
Chr22:33669178 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.1287C>T (p.Asn429=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000402467]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000335642]|not provided [RCV001289025] Chr22:33337646 [GRCh38]
Chr22:33733632 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.-277T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000265950]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000302413] Chr22:33920189 [GRCh38]
Chr22:34316177 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.506A>G (p.His169Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000367835]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000277777] Chr22:33604544 [GRCh38]
Chr22:34000530 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2073+11C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000398023]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000297532] Chr22:33277049 [GRCh38]
Chr22:33673035 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) single nucleotide variant LARGE1-related disorder [RCV003939978]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001147367]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000530690]|not provided [RCV001618494]|not specified [RCV000364234] Chr22:33283303 [GRCh38]
Chr22:33679289 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.-287A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000267101]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000361640] Chr22:33920199 [GRCh38]
Chr22:34316187 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*455C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000378363]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000267556] Chr22:33273972 [GRCh38]
Chr22:33669958 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*833A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000261820]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000386694] Chr22:33273594 [GRCh38]
Chr22:33669580 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-271G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000355525]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000300721] Chr22:33920183 [GRCh38]
Chr22:34316171 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-149G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000383458]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000347511] Chr22:33920061 [GRCh38]
Chr22:34316049 [GRCh37]
Chr22:22q12.3		 benign|uncertain significance
NM_133642.5(LARGE1):c.-481G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000363377]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000303995] Chr22:33920393 [GRCh38]
Chr22:34316381 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-83+63217G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000267808]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000322885] Chr22:33856778 [GRCh38]
Chr22:34252766 [GRCh37]
Chr22:22q12.3		 benign|uncertain significance
NM_133642.5(LARGE1):c.*921C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000365682]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000268769]|not provided [RCV004713779] Chr22:33273506 [GRCh38]
Chr22:33669492 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.*1201A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000305400]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000339299] Chr22:33273226 [GRCh38]
Chr22:33669212 [GRCh37]
Chr22:22q12.3		 benign|uncertain significance
NM_133642.5(LARGE1):c.298A>G (p.Lys100Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000532796]|not provided [RCV000489423] Chr22:33650477 [GRCh38]
Chr22:34046463 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1451+273A>G single nucleotide variant not provided [RCV001574283] Chr22:33315812 [GRCh38]
Chr22:33711798 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-359C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000387445]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000293093] Chr22:33920271 [GRCh38]
Chr22:34316259 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-247T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000398230]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000335575] Chr22:33920159 [GRCh38]
Chr22:34316147 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.929T>A (p.Met310Lys) single nucleotide variant not provided [RCV000521618] Chr22:33384268 [GRCh38]
Chr22:33780254 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*998A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000309022]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000395091] Chr22:33273429 [GRCh38]
Chr22:33669415 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-480C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000338975]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000404545] Chr22:33920392 [GRCh38]
Chr22:34316380 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*770A>T single nucleotide variant Congenital Muscular Dystrophy, alpha-dystroglycan related [RCV000340657]|Walker-Warburg congenital muscular dystrophy [RCV000390754] Chr22:33273657 [GRCh38]
Chr22:33669643 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-292G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000381278]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000326678] Chr22:33920204 [GRCh38]
Chr22:34316192 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-242C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000406482]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000313353] Chr22:33920154 [GRCh38]
Chr22:34316142 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*499G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000313146]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000356176] Chr22:33273928 [GRCh38]
Chr22:33669914 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-82-16_-82-15del deletion not specified [RCV000600693] Chr22:33761573..33761574 [GRCh38]
Chr22:34157560..34157561 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1705A>G (p.Met569Val) single nucleotide variant not provided [RCV000592987] Chr22:33304254 [GRCh38]
Chr22:33700240 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.283C>T (p.Arg95Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000585698]|Muscular dystrophy-dystroglycanopathy type B6 [RCV005091527] Chr22:33650492 [GRCh38]
Chr22:34046478 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.897G>C (p.Val299=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640142] Chr22:33384300 [GRCh38]
Chr22:33780286 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.478G>A (p.Val160Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640131]|not provided [RCV003133426] Chr22:33626257 [GRCh38]
Chr22:34022241 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001406873] Chr22:33381970 [GRCh38]
Chr22:33777956 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1094G>A (p.Arg365His) single nucleotide variant not provided [RCV000730075] Chr22:33381956 [GRCh38]
Chr22:33777942 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1348C>T (p.Arg450Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000533367] Chr22:33316188 [GRCh38]
Chr22:33712174 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1098C>G (p.Ser366=) single nucleotide variant LARGE1-related disorder [RCV003900166]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001393538] Chr22:33381952 [GRCh38]
Chr22:33777938 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000535577] Chr22:33283240 [GRCh38]
Chr22:33679226 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34220630-34281098)x1 copy number loss See cases [RCV000449166] Chr22:34220630..34281098 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34146948-34264628)x1 copy number loss See cases [RCV000446079] Chr22:34146948..34264628 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:34109004-34227501)x1 copy number loss See cases [RCV000446885] Chr22:34109004..34227501 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34146948-34311815)x3 copy number gain See cases [RCV000446900] Chr22:34146948..34311815 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-83+63246C>T single nucleotide variant not specified [RCV000431041] Chr22:33856749 [GRCh38]
Chr22:34252737 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.492-11A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002062530]|not specified [RCV000421053] Chr22:33604569 [GRCh38]
Chr22:34000555 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2004G>A (p.Pro668=) single nucleotide variant LARGE1-related disorder [RCV003932653]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000537929]|not specified [RCV000424078] Chr22:33277129 [GRCh38]
Chr22:33673115 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1791C>T (p.Phe597=) single nucleotide variant LARGE1-related disorder [RCV003922776]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001428205]|not provided [RCV003437182]|not specified [RCV000427769] Chr22:33283288 [GRCh38]
Chr22:33679274 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-83+63202T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148522]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148521]|not specified [RCV000433377] Chr22:33856793 [GRCh38]
Chr22:34252781 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.492-8C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000533142]|not specified [RCV000433606] Chr22:33604566 [GRCh38]
Chr22:34000552 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.333C>T (p.Ser111=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001224700]|not specified [RCV000433659] Chr22:33650442 [GRCh38]
Chr22:34046428 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.717C>T (p.Ile239=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507278]|not specified [RCV000444288] Chr22:33564918 [GRCh38]
Chr22:33960904 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+14A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002063547]|not specified [RCV000430652] Chr22:33564834 [GRCh38]
Chr22:33960820 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.3(chr22:34163354-34262390)x1 copy number loss See cases [RCV000448517] Chr22:34163354..34262390 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:33716946-33965006)x3 copy number gain See cases [RCV000448383] Chr22:33716946..33965006 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.3(chr22:33869991-34080790)x1 copy number loss See cases [RCV000512053] Chr22:33869991..34080790 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1343G>A (p.Arg448Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003114612]|not provided [RCV000478800] Chr22:33316193 [GRCh38]
Chr22:33712179 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.861A>G (p.Pro287=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002060128]|not specified [RCV000503715] Chr22:33432192 [GRCh38]
Chr22:33828178 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000688617]|not provided [RCV000497529] Chr22:33604443 [GRCh38]
Chr22:34000429 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33965589-35011514)x3 copy number gain See cases [RCV000510572] Chr22:33965589..35011514 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33932070-34315594)x1 copy number loss See cases [RCV000510891] Chr22:33932070..34315594 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.23-12.3(chr22:23637907-36614412)x3 copy number gain See cases [RCV000511098] Chr22:23637907..36614412 [GRCh37]
Chr22:22q11.23-12.3		 pathogenic
NM_133642.5(LARGE1):c.73A>G (p.Thr25Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000535018] Chr22:33761404 [GRCh38]
Chr22:34157391 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.904T>C (p.Leu302=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001425130] Chr22:33384293 [GRCh38]
Chr22:33780279 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000552813]|not provided [RCV003133315] Chr22:33316248 [GRCh38]
Chr22:33712234 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1225G>A (p.Gly409Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640132] Chr22:33337708 [GRCh38]
Chr22:33733694 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-83+63195C>A single nucleotide variant not specified [RCV000602473] Chr22:33856800 [GRCh38]
Chr22:34252788 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.251G>T (p.Ser84Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000539760] Chr22:33650524 [GRCh38]
Chr22:34046510 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1229A>G (p.Asn410Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000540326]|not provided [RCV003133314] Chr22:33337704 [GRCh38]
Chr22:33733690 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.534G>C (p.Ala178=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640134]|not provided [RCV004704154] Chr22:33604516 [GRCh38]
Chr22:34000502 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000528076] Chr22:33761403 [GRCh38]
Chr22:34157390 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1056C>A (p.Leu352=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615851]|not provided [RCV001697407] Chr22:33381994 [GRCh38]
Chr22:33777980 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1614C>T (p.Gly538=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507303]|not specified [RCV000611232] Chr22:33304345 [GRCh38]
Chr22:33700331 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1878-11G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145430]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001145431]|not provided [RCV001719076] Chr22:33277266 [GRCh38]
Chr22:33673252 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.34T>C (p.Leu12=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615852]|not specified [RCV000612070] Chr22:33761443 [GRCh38]
Chr22:34157430 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.940C>G (p.Gln314Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640130] Chr22:33384257 [GRCh38]
Chr22:33780243 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1464G>A (p.Leu488=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640135] Chr22:33304495 [GRCh38]
Chr22:33700481 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1416G>A (p.Thr472=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000640136]|not provided [RCV003884683] Chr22:33316120 [GRCh38]
Chr22:33712106 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_133642.5(LARGE1):c.-83+63247G>A single nucleotide variant not specified [RCV000600450] Chr22:33856748 [GRCh38]
Chr22:34252736 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-82-19T>C single nucleotide variant not specified [RCV000600593] Chr22:33761577 [GRCh38]
Chr22:34157564 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1451+12G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002064090]|not specified [RCV000606234] Chr22:33316073 [GRCh38]
Chr22:33712059 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.81T>A (p.Ile27=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000877633]|not specified [RCV000606503] Chr22:33761396 [GRCh38]
Chr22:34157383 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.942G>T (p.Gln314His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000685575] Chr22:33384255 [GRCh38]
Chr22:33780241 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs) duplication Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV000681481] Chr22:33382015..33382016 [GRCh38]
Chr22:33778001..33778002 [GRCh37]
Chr22:22q12.3		 likely pathogenic
GRCh37/hg19 22q12.3(chr22:33907005-33978458)x1 copy number loss not provided [RCV000684449] Chr22:33907005..33978458 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34192190-34281098)x1 copy number loss not provided [RCV000684452] Chr22:34192190..34281098 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33816856-33909777)x1 copy number loss not provided [RCV000684453] Chr22:33816856..33909777 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.22-12.3(chr22:22460754-35198232)x3 copy number gain not provided [RCV000684530] Chr22:22460754..35198232 [GRCh37]
Chr22:22q11.22-12.3		 pathogenic
NM_133642.5(LARGE1):c.287G>A (p.Gly96Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000701743] Chr22:33650488 [GRCh38]
Chr22:34046474 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.418G>A (p.Val140Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000701837]|not provided [RCV004692172] Chr22:33626317 [GRCh38]
Chr22:34022301 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu) single nucleotide variant Inborn genetic diseases [RCV004025070]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000691110]|not provided [RCV003133529] Chr22:33432257 [GRCh38]
Chr22:33828243 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.11:g.(?_33761351)_(33761496_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV000707831] Chr22:33761351..33761496 [GRCh38]
Chr22:34157338..34157483 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2015G>A (p.Arg672Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000703811] Chr22:33277118 [GRCh38]
Chr22:33673104 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_34022208)_(34157483_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV000708506] Chr22:34022208..34157483 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1132-3C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000695176] Chr22:33337804 [GRCh38]
Chr22:33733790 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1656G>C (p.Lys552Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000802066]|not provided [RCV000712202] Chr22:33304303 [GRCh38]
Chr22:33700289 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.941A>T (p.Gln314Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001332509]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001056385]|not provided [RCV000712205] Chr22:33384256 [GRCh38]
Chr22:33780242 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1420G>T (p.Val474Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000693472] Chr22:33316116 [GRCh38]
Chr22:33712102 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1759A>G (p.Asn587Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000703133] Chr22:33283320 [GRCh38]
Chr22:33679306 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1413C>A (p.Ser471Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000703140]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000764384]|not provided [RCV001788339]|not specified [RCV004689864] Chr22:33316123 [GRCh38]
Chr22:33712109 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:33698972-33706824)x1 copy number loss not provided [RCV000741914] Chr22:33698972..33706824 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33736087-33736744)x1 copy number loss not provided [RCV000741915] Chr22:33736087..33736744 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33736087-33743341)x0 copy number loss not provided [RCV000741916] Chr22:33736087..33743341 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33755901-33760604)x1 copy number loss not provided [RCV000741917] Chr22:33755901..33760604 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33763247-33771672)x1 copy number loss not provided [RCV000741918] Chr22:33763247..33771672 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33779182-33782594)x1 copy number loss not provided [RCV000741919] Chr22:33779182..33782594 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33780897-33782594)x0 copy number loss not provided [RCV000741920] Chr22:33780897..33782594 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33781011-33782594)x1 copy number loss not provided [RCV000741921] Chr22:33781011..33782594 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33904676-33915455)x3 copy number gain not provided [RCV000741922] Chr22:33904676..33915455 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33963790-33981599)x1 copy number loss not provided [RCV000741923] Chr22:33963790..33981599 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:34015991-34259378)x1 copy number loss not provided [RCV000741924] Chr22:34015991..34259378 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:34047444-34050747)x1 copy number loss not provided [RCV000741925] Chr22:34047444..34050747 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:34087695-34148622)x1 copy number loss not provided [RCV000741926] Chr22:34087695..34148622 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:34109005-34225482)x1 copy number loss not provided [RCV000741927] Chr22:34109005..34225482 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34287350-34315294)x3 copy number gain not provided [RCV000741928] Chr22:34287350..34315294 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x1 copy number loss not provided [RCV001531386] Chr22:33960834..34046791 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1452-254A>C single nucleotide variant not provided [RCV001537615] Chr22:33304761 [GRCh38]
Chr22:33700747 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.788-333ATGA[8] microsatellite not provided [RCV001665819] Chr22:33432563..33432566 [GRCh38]
Chr22:33828549..33828552 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGA insertion not provided [RCV001691576] Chr22:33432595..33432596 [GRCh38]
Chr22:33828581..33828582 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1132-318A>G single nucleotide variant not provided [RCV001680433] Chr22:33338119 [GRCh38]
Chr22:33734105 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.99C>T (p.Ser33=) single nucleotide variant LARGE1-related disorder [RCV003955721]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145755]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000874489] Chr22:33761378 [GRCh38]
Chr22:34157365 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1005+282G>A single nucleotide variant not provided [RCV001564484] Chr22:33383910 [GRCh38]
Chr22:33779896 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2001C>T (p.Cys667=) single nucleotide variant LARGE1-related disorder [RCV003938349]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000874945]|not provided [RCV001655629] Chr22:33277132 [GRCh38]
Chr22:33673118 [GRCh37]
Chr22:22q12.3		 benign|likely benign
NM_133642.5(LARGE1):c.45G>A (p.Ser15=) single nucleotide variant LARGE1-related disorder [RCV003938360]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000875516] Chr22:33761432 [GRCh38]
Chr22:34157419 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.117C>A (p.Pro39=) single nucleotide variant not provided [RCV000895251] Chr22:33650658 [GRCh38]
Chr22:34046644 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGCATGA insertion not provided [RCV001571864] Chr22:33432595..33432596 [GRCh38]
Chr22:33828581..33828582 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.119T>C (p.Val40Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001045587] Chr22:33650656 [GRCh38]
Chr22:34046642 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1878-24A>G single nucleotide variant not provided [RCV001547927] Chr22:33277279 [GRCh38]
Chr22:33673265 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-330A>C single nucleotide variant not provided [RCV001690525] Chr22:33432595 [GRCh38]
Chr22:33828581 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1131+110G>T single nucleotide variant not provided [RCV001576369] Chr22:33381809 [GRCh38]
Chr22:33777795 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.651T>A (p.Ser217=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001426957] Chr22:33564984 [GRCh38]
Chr22:33960970 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001434938] Chr22:33382030 [GRCh38]
Chr22:33778016 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.36G>A (p.Leu12=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507322] Chr22:33761441 [GRCh38]
Chr22:34157428 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001483799] Chr22:33304438 [GRCh38]
Chr22:33700424 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.606C>T (p.Asp202=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002064888] Chr22:33604444 [GRCh38]
Chr22:34000430 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2136C>T (p.Phe712=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002065482] Chr22:33274562 [GRCh38]
Chr22:33670548 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.393C>G (p.Val131=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507323] Chr22:33650382 [GRCh38]
Chr22:34046368 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001497599] Chr22:33432168 [GRCh38]
Chr22:33828154 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_133642.5(LARGE1):c.1340G>A (p.Arg447Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001039204] Chr22:33316196 [GRCh38]
Chr22:33712182 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34098416-34197367)x1 copy number loss not provided [RCV001007185] Chr22:34098416..34197367 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-1058A>T single nucleotide variant not provided [RCV003312556] Chr22:33305565 [GRCh38]
Chr22:33701551 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.958G>A (p.Ala320Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001047236] Chr22:33384239 [GRCh38]
Chr22:33780225 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.11:g.(?_33761361)_(33761486_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV000813970] Chr22:33761361..33761486 [GRCh38]
Chr22:34157348..34157473 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.-82-3_-77del deletion LARGE-related disorder [RCV000778657] Chr22:33761553..33761561 [GRCh38]
Chr22:34157540..34157548 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1863C>A (p.Thr621=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001474663] Chr22:33283216 [GRCh38]
Chr22:33679202 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) single nucleotide variant LARGE1-related disorder [RCV003955728]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001430461]|not provided [RCV003432842] Chr22:33626303 [GRCh38]
Chr22:34022287 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001453768] Chr22:33304381 [GRCh38]
Chr22:33700367 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.549C>T (p.Ala183=) single nucleotide variant not provided [RCV000921079] Chr22:33604501 [GRCh38]
Chr22:34000487 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.477C>T (p.Ser159=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000951735] Chr22:33626258 [GRCh38]
Chr22:34022242 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1833G>A (p.Ala611=) single nucleotide variant LARGE1-related disorder [RCV003970849]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000964577] Chr22:33283246 [GRCh38]
Chr22:33679232 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.664C>T (p.Leu222=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000877921] Chr22:33564971 [GRCh38]
Chr22:33960957 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1965C>T (p.Ala655=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001484704] Chr22:33277168 [GRCh38]
Chr22:33673154 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001439051] Chr22:33304447 [GRCh38]
Chr22:33700433 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-91C>G single nucleotide variant not provided [RCV000831758] Chr22:33283439 [GRCh38]
Chr22:33679425 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.206T>C (p.Met69Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000799236] Chr22:33650569 [GRCh38]
Chr22:34046555 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.892+79T>G single nucleotide variant not provided [RCV000832195] Chr22:33432082 [GRCh38]
Chr22:33828068 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1892C>T (p.Thr631Met) single nucleotide variant Inborn genetic diseases [RCV002539943]|Muscular dystrophy-dystroglycanopathy type B6 [RCV000814080]|not provided [RCV001786418] Chr22:33277241 [GRCh38]
Chr22:33673227 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1521C>A (p.Asp507Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000801159] Chr22:33304438 [GRCh38]
Chr22:33700424 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1785C>T (p.Pro595=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000958398]|not provided [RCV001593150] Chr22:33283294 [GRCh38]
Chr22:33679280 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.3(chr22:33716946-34230190)x1 copy number loss not provided [RCV000845809] Chr22:33716946..34230190 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1675A>G (p.Met559Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000815154] Chr22:33304284 [GRCh38]
Chr22:33700270 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1452-209T>C single nucleotide variant not provided [RCV000838012] Chr22:33304716 [GRCh38]
Chr22:33700702 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1730+118G>A single nucleotide variant not provided [RCV000838013] Chr22:33304111 [GRCh38]
Chr22:33700097 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1730+239G>A single nucleotide variant not provided [RCV000838014] Chr22:33303990 [GRCh38]
Chr22:33699976 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.923G>A (p.Arg308Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000806348] Chr22:33384274 [GRCh38]
Chr22:33780260 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1457A>G (p.Gln486Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000818043] Chr22:33304502 [GRCh38]
Chr22:33700488 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.788-181G>A single nucleotide variant not provided [RCV000829838] Chr22:33432446 [GRCh38]
Chr22:33828432 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.107-184G>C single nucleotide variant not provided [RCV000836439] Chr22:33650852 [GRCh38]
Chr22:34046838 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.408+144G>A single nucleotide variant not provided [RCV000836440] Chr22:33650223 [GRCh38]
Chr22:34046209 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.408+247G>A single nucleotide variant not provided [RCV000836441] Chr22:33650120 [GRCh38]
Chr22:34046106 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.615+191A>G single nucleotide variant not provided [RCV000843152] Chr22:33604244 [GRCh38]
Chr22:34000230 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.893-235T>G single nucleotide variant not provided [RCV000843175] Chr22:33384539 [GRCh38]
Chr22:33780525 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.394G>A (p.Val132Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000795262] Chr22:33650381 [GRCh38]
Chr22:34046367 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1432G>A (p.Ala478Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000795539]|not provided [RCV003133607] Chr22:33316104 [GRCh38]
Chr22:33712090 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000792971] Chr22:33650554 [GRCh38]
Chr22:34046540 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.239G>T (p.Arg80Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000819520] Chr22:33650536 [GRCh38]
Chr22:34046522 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.409-65del deletion not provided [RCV000833948] Chr22:33626391 [GRCh38]
Chr22:34022375 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33760603-33893824)x1 copy number loss not provided [RCV000849903] Chr22:33760603..33893824 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1288-214G>A single nucleotide variant not provided [RCV000843167] Chr22:33316462 [GRCh38]
Chr22:33712448 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1877+183C>T single nucleotide variant not provided [RCV000843168] Chr22:33283019 [GRCh38]
Chr22:33679005 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.2074-98G>C single nucleotide variant not provided [RCV000843169] Chr22:33274722 [GRCh38]
Chr22:33670708 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-265G>A single nucleotide variant not provided [RCV000833159] Chr22:33274889 [GRCh38]
Chr22:33670875 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+120G>C single nucleotide variant not provided [RCV000829585] Chr22:33564728 [GRCh38]
Chr22:33960714 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1287+146C>T single nucleotide variant not provided [RCV000829608] Chr22:33337500 [GRCh38]
Chr22:33733486 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.*566G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149646]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149645] Chr22:33273861 [GRCh38]
Chr22:33669847 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2073+12G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148191]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148190] Chr22:33277048 [GRCh38]
Chr22:33673034 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.*155C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001147289]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001147288]|not provided [RCV004694915] Chr22:33274272 [GRCh38]
Chr22:33670258 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2089G>T (p.Val697Leu) single nucleotide variant Retinitis pigmentosa [RCV000993852] Chr22:33274609 [GRCh38]
Chr22:33670595 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.-194G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001150092]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001150091] Chr22:33920106 [GRCh38]
Chr22:34316094 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.615+139G>C single nucleotide variant not provided [RCV000843156] Chr22:33604296 [GRCh38]
Chr22:34000282 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.615+246A>G single nucleotide variant not provided [RCV000843164] Chr22:33604189 [GRCh38]
Chr22:34000175 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.787+158T>C single nucleotide variant not provided [RCV000843165] Chr22:33564690 [GRCh38]
Chr22:33960676 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1006-195G>A single nucleotide variant not provided [RCV000843199] Chr22:33382239 [GRCh38]
Chr22:33778225 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1132-190G>T single nucleotide variant not provided [RCV000843200] Chr22:33337991 [GRCh38]
Chr22:33733977 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1132-175A>G single nucleotide variant not provided [RCV000843201] Chr22:33337976 [GRCh38]
Chr22:33733962 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1132-153C>T single nucleotide variant not provided [RCV000843202] Chr22:33337954 [GRCh38]
Chr22:33733940 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1287+105G>C single nucleotide variant not provided [RCV000843204] Chr22:33337541 [GRCh38]
Chr22:33733527 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1730+67A>G single nucleotide variant not provided [RCV000843205] Chr22:33304162 [GRCh38]
Chr22:33700148 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1132-208G>A single nucleotide variant not provided [RCV000843206] Chr22:33338009 [GRCh38]
Chr22:33733995 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1765A>G (p.Lys589Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000815190] Chr22:33283314 [GRCh38]
Chr22:33679300 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.788-65A>G single nucleotide variant not provided [RCV000837072] Chr22:33432330 [GRCh38]
Chr22:33828316 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.63C>A (p.Ile21=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001426546] Chr22:33761414 [GRCh38]
Chr22:34157401 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2073+152G>A single nucleotide variant not provided [RCV000833786] Chr22:33276908 [GRCh38]
Chr22:33672894 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-226_1452-225insGATATCA insertion not provided [RCV000837185] Chr22:33304732..33304733 [GRCh38]
Chr22:33700718..33700719 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+58C>T single nucleotide variant not provided [RCV000833867] Chr22:33381861 [GRCh38]
Chr22:33777847 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-82-269A>G single nucleotide variant not provided [RCV000844235] Chr22:33761827 [GRCh38]
Chr22:34157814 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1584C>T (p.Asn528=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001410339]|not provided [RCV000874921] Chr22:33304375 [GRCh38]
Chr22:33700361 [GRCh37]
Chr22:22q12.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002064762] Chr22:33304486 [GRCh38]
Chr22:33700472 [GRCh37]
Chr22:22q12.3		 likely benign
NC_000022.11:g.(?_33604425)_(33604568_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV000805926] Chr22:33604425..33604568 [GRCh38]
Chr22:34000411..34000554 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2217C>G (p.Ser739=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615858]|not provided [RCV000827648] Chr22:33274481 [GRCh38]
Chr22:33670467 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1730+286A>G single nucleotide variant not provided [RCV000827887] Chr22:33303943 [GRCh38]
Chr22:33699929 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1706T>C (p.Met569Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000801278] Chr22:33304253 [GRCh38]
Chr22:33700239 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2256C>T (p.Ala752=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000872964]|not provided [RCV001567348] Chr22:33274442 [GRCh38]
Chr22:33670428 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_133642.5(LARGE1):c.2212A>G (p.Met738Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148189]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148188] Chr22:33274486 [GRCh38]
Chr22:33670472 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.460G>A (p.Val154Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148404]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148405]|not provided [RCV003130166] Chr22:33626275 [GRCh38]
Chr22:34022259 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.492-6C>G single nucleotide variant Inborn genetic diseases [RCV002557117]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145640]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001145641] Chr22:33604564 [GRCh38]
Chr22:34000550 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 22q12.3(chr22:33983040-34200588)x1 copy number loss not provided [RCV000848188] Chr22:33983040..34200588 [GRCh37]
Chr22:22q12.3		 pathogenic
GRCh37/hg19 22q12.3(chr22:33810569-33838701)x3 copy number gain not provided [RCV000848323] Chr22:33810569..33838701 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33660717-33940002)x4 copy number gain not provided [RCV000846388] Chr22:33660717..33940002 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34220795-34281098)x1 copy number loss not provided [RCV001007187] Chr22:34220795..34281098 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1138C>G (p.His380Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001214056] Chr22:33337795 [GRCh38]
Chr22:33733781 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*995T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145234]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001145235] Chr22:33273432 [GRCh38]
Chr22:33669418 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.969G>T (p.Glu323Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001204627] Chr22:33384228 [GRCh38]
Chr22:33780214 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1928G>A (p.Arg643Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001241965] Chr22:33277205 [GRCh38]
Chr22:33673191 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.131C>T (p.Pro44Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001225783]|not provided [RCV002265010] Chr22:33650644 [GRCh38]
Chr22:34046630 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001238920] Chr22:33337718 [GRCh38]
Chr22:33733704 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
GRCh37/hg19 22q12.3(chr22:33766524-33947402)x3 copy number gain not provided [RCV000845786] Chr22:33766524..33947402 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1991G>C (p.Arg664Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001223529] Chr22:33277142 [GRCh38]
Chr22:33673128 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1775T>C (p.Met592Thr) single nucleotide variant not provided [RCV000997911] Chr22:33283304 [GRCh38]
Chr22:33679290 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33789711-34054580)x1 copy number loss not provided [RCV000845937] Chr22:33789711..34054580 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34130912-34188220)x1 copy number loss not provided [RCV001007186] Chr22:34130912..34188220 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-69C>T single nucleotide variant not provided [RCV001663005] Chr22:33274693 [GRCh38]
Chr22:33670679 [GRCh37]
Chr22:22q12.3		 benign
GRCh37/hg19 22q12.3(chr22:33960834-34046791)x3 copy number gain not provided [RCV001091679] Chr22:33960834..34046791 [GRCh37]
Chr22:22q12.3		 likely pathogenic
GRCh37/hg19 22q12.3(chr22:33716946-34230190)x1 copy number loss not provided [RCV000845808] Chr22:33716946..34230190 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1005+98G>A single nucleotide variant not provided [RCV001566945] Chr22:33384094 [GRCh38]
Chr22:33780080 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-83+63438C>T single nucleotide variant not provided [RCV001641361] Chr22:33856557 [GRCh38]
Chr22:34252545 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.491+20T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003104438] Chr22:33626224 [GRCh38]
Chr22:34022208 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-333ATGA[11] microsatellite not provided [RCV001590739] Chr22:33432562..33432563 [GRCh38]
Chr22:33828548..33828549 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-82-194_-82-192del deletion not provided [RCV001608632] Chr22:33761750..33761752 [GRCh38]
Chr22:34157737..34157739 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.788-346CATG[5] microsatellite not provided [RCV001592099] Chr22:33432595..33432596 [GRCh38]
Chr22:33828581..33828582 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.408+42C>T single nucleotide variant not provided [RCV001557672] Chr22:33650325 [GRCh38]
Chr22:34046311 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+258C>G single nucleotide variant not provided [RCV001613818] Chr22:33381661 [GRCh38]
Chr22:33777647 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1452-293A>G single nucleotide variant not provided [RCV001587924] Chr22:33304800 [GRCh38]
Chr22:33700786 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-87G>T single nucleotide variant not provided [RCV001617349] Chr22:33283435 [GRCh38]
Chr22:33679421 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.409-39G>C single nucleotide variant not provided [RCV001559849] Chr22:33626365 [GRCh38]
Chr22:34022349 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-225C>G single nucleotide variant not provided [RCV001540253] Chr22:33304732 [GRCh38]
Chr22:33700718 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1902C>T (p.His634=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002064726]|not provided [RCV003432836] Chr22:33277231 [GRCh38]
Chr22:33673217 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.201G>C (p.Val67=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000931695] Chr22:33650574 [GRCh38]
Chr22:34046560 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-10C>T single nucleotide variant not provided [RCV000885731] Chr22:33283358 [GRCh38]
Chr22:33679344 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.426T>C (p.Ile142=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001413047] Chr22:33626309 [GRCh38]
Chr22:34022293 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001493580] Chr22:33283291 [GRCh38]
Chr22:33679277 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.543C>T (p.Ile181=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV000908766] Chr22:33604507 [GRCh38]
Chr22:34000493 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.216G>C (p.Val72=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005092733] Chr22:33650559 [GRCh38]
Chr22:34046545 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-7C>T single nucleotide variant not provided [RCV000916331] Chr22:33304514 [GRCh38]
Chr22:33700500 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+5T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001476018] Chr22:33564843 [GRCh38]
Chr22:33960829 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001391840] Chr22:33604453 [GRCh38]
Chr22:34000439 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001221884] Chr22:33283233 [GRCh38]
Chr22:33679219 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34152899-34236578) copy number loss Muscular dystrophy-dystroglycanopathy type B6 [RCV001195151] Chr22:34152899..34236578 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001239849] Chr22:33650441 [GRCh38]
Chr22:34046427 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.*969G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145236]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001145237] Chr22:33273458 [GRCh38]
Chr22:33669444 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.164C>T (p.Thr55Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001236856] Chr22:33650611 [GRCh38]
Chr22:34046597 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1426C>A (p.Leu476Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148297]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148298] Chr22:33316110 [GRCh38]
Chr22:33712096 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.479T>G (p.Val160Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148403]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148402] Chr22:33626256 [GRCh38]
Chr22:34022240 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-377C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148626]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148625] Chr22:33920289 [GRCh38]
Chr22:34316277 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.11:g.(?_33274417)_(33337811_?)dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV001033509] Chr22:33670403..33733797 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-527C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001144066]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001144065] Chr22:33920439 [GRCh38]
Chr22:34316427 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2148G>A (p.Lys716=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001472883] Chr22:33274550 [GRCh38]
Chr22:33670536 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1431C>G (p.Val477=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507327] Chr22:33316105 [GRCh38]
Chr22:33712091 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.189G>A (p.Glu63=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001439070] Chr22:33650586 [GRCh38]
Chr22:34046572 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.708G>A (p.Glu236=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002065563] Chr22:33564927 [GRCh38]
Chr22:33960913 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1730+8C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001445352] Chr22:33304221 [GRCh38]
Chr22:33700207 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-125G>A single nucleotide variant not provided [RCV001549330] Chr22:33316373 [GRCh38]
Chr22:33712359 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+221C>T single nucleotide variant not provided [RCV001570732] Chr22:33381698 [GRCh38]
Chr22:33777684 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-304T>G single nucleotide variant not provided [RCV001549888] Chr22:33565323 [GRCh38]
Chr22:33961309 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-39del deletion not provided [RCV001568734] Chr22:33565058 [GRCh38]
Chr22:33961044 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.-83+63134A>G single nucleotide variant not provided [RCV001560699] Chr22:33856861 [GRCh38]
Chr22:34252849 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2153G>C (p.Arg718Pro) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001044928] Chr22:33274545 [GRCh38]
Chr22:33670531 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33655596-34004153)x1 copy number loss not provided [RCV001007183] Chr22:33655596..34004153 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-83+62952T>C single nucleotide variant not provided [RCV001618078] Chr22:33857043 [GRCh38]
Chr22:34253031 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1731-88G>T single nucleotide variant not provided [RCV001721597] Chr22:33283436 [GRCh38]
Chr22:33679422 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.788-333ATGA[10] microsatellite not provided [RCV001710597] Chr22:33432562..33432563 [GRCh38]
Chr22:33828548..33828549 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.2074-109G>A single nucleotide variant not provided [RCV001613509] Chr22:33274733 [GRCh38]
Chr22:33670719 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1287+56A>G single nucleotide variant not provided [RCV001545793] Chr22:33337590 [GRCh38]
Chr22:33733576 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-280A>G single nucleotide variant not provided [RCV001695351] Chr22:33382324 [GRCh38]
Chr22:33778310 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.*639T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149643]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149644] Chr22:33273788 [GRCh38]
Chr22:33669774 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.230G>A (p.Arg77His) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149976]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149975] Chr22:33650545 [GRCh38]
Chr22:34046531 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-202C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001143962]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001143963] Chr22:33920114 [GRCh38]
Chr22:34316102 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1321G>A (p.Asp441Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001047128] Chr22:33316215 [GRCh38]
Chr22:33712201 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.569T>A (p.Met190Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001067006] Chr22:33604481 [GRCh38]
Chr22:34000467 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.245A>G (p.Gln82Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001866111]|not provided [RCV001587605] Chr22:33650530 [GRCh38]
Chr22:34046516 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1877+89G>A single nucleotide variant not provided [RCV001725771] Chr22:33283113 [GRCh38]
Chr22:33679099 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1005+176C>T single nucleotide variant not provided [RCV001583326] Chr22:33384016 [GRCh38]
Chr22:33780002 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1993C>T (p.Arg665Cys) single nucleotide variant not provided [RCV001573672] Chr22:33277140 [GRCh38]
Chr22:33673126 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.788-331_788-330insATGCATGAATGA microsatellite not provided [RCV001714160] Chr22:33432595..33432596 [GRCh38]
Chr22:33828581..33828582 [GRCh37]
Chr22:22q12.3		 benign
NC_000022.10:g.(?_33960824)_(34046664_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001032150] Chr22:33960824..34046664 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.978C>T (p.Gly326=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001038659] Chr22:33384219 [GRCh38]
Chr22:33780205 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.2070G>A (p.Val690=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149746]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149745] Chr22:33277063 [GRCh38]
Chr22:33673049 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.227A>C (p.Asn76Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149978]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149977]|Muscular dystrophy-dystroglycanopathy type B6 [RCV005029730]|not provided [RCV001772346] Chr22:33650548 [GRCh38]
Chr22:34046534 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.220G>A (p.Glu74Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149979]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149980]|not provided [RCV003130167] Chr22:33650555 [GRCh38]
Chr22:34046541 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-500T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001150208]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001150207] Chr22:33920412 [GRCh38]
Chr22:34316400 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.728C>G (p.Thr243Arg) single nucleotide variant not provided [RCV001091578] Chr22:33564907 [GRCh38]
Chr22:33960893 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2175C>G (p.Ile725Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001039046] Chr22:33274523 [GRCh38]
Chr22:33670509 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33528709-33839217)x3 copy number gain not provided [RCV001007182] Chr22:33528709..33839217 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1640G>A (p.Arg547His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001212761] Chr22:33304319 [GRCh38]
Chr22:33700305 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1005+15T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001145526]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001145527] Chr22:33384177 [GRCh38]
Chr22:33780163 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.1699del (p.Leu567fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001205825] Chr22:33304260 [GRCh38]
Chr22:33700246 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1415C>T (p.Thr472Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001205847] Chr22:33316121 [GRCh38]
Chr22:33712107 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.254_259dup (p.Leu85_Ala86dup) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV001055373]|not provided [RCV004693530] Chr22:33650515..33650516 [GRCh38]
Chr22:34046501..34046502 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33909775-34583176)x3 copy number gain not provided [RCV001007184] Chr22:33909775..34583176 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.729G>A (p.Thr243=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001213360] Chr22:33564906 [GRCh38]
Chr22:33960892 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.*186C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001147286]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001147287] Chr22:33274241 [GRCh38]
Chr22:33670227 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1600G>A (p.Val534Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001147370]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001147369] Chr22:33304359 [GRCh38]
Chr22:33700345 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*1229G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001149536]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001149535] Chr22:33273198 [GRCh38]
Chr22:33669184 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.79A>G (p.Ile27Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001042348] Chr22:33761398 [GRCh38]
Chr22:34157385 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.*699G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148088]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148089] Chr22:33273728 [GRCh38]
Chr22:33669714 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1389C>T (p.Tyr463=) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148301]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148300] Chr22:33316147 [GRCh38]
Chr22:33712133 [GRCh37]
Chr22:22q12.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_133642.5(LARGE1):c.551C>T (p.Thr184Met) single nucleotide variant Inborn genetic diseases [RCV002553822]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001057086]|not provided [RCV003130134] Chr22:33604499 [GRCh38]
Chr22:34000485 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-47C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001148520]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001148519] Chr22:33761523 [GRCh38]
Chr22:34157510 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1299G>T (p.Gln433His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001038917] Chr22:33316237 [GRCh38]
Chr22:33712223 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33914823-34110028)x1 copy number loss not provided [RCV001258780] Chr22:33914823..34110028 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1903G>A (p.Ala635Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001303884]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001824948] Chr22:33277230 [GRCh38]
Chr22:33673216 [GRCh37]
Chr22:22q12.3		 uncertain significance|not provided
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3(chr22:34307510-34723028)x3 copy number gain not provided [RCV001258781] Chr22:34307510..34723028 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2243A>G (p.Lys748Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001315763] Chr22:33274455 [GRCh38]
Chr22:33670441 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.366C>A (p.Asn122Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001319497] Chr22:33650409 [GRCh38]
Chr22:34046395 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2082_2105del (p.Glu694_Tyr702delinsAsp) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001297974] Chr22:33274593..33274616 [GRCh38]
Chr22:33670579..33670602 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2264A>G (p.Asn755Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001342663] Chr22:33274434 [GRCh38]
Chr22:33670420 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.492-3C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001313255] Chr22:33604561 [GRCh38]
Chr22:34000547 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1261A>G (p.Ser421Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001340027] Chr22:33337672 [GRCh38]
Chr22:33733658 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1677G>A (p.Met559Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001315166] Chr22:33304282 [GRCh38]
Chr22:33700268 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2222G>A (p.Arg741His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001321933] Chr22:33274476 [GRCh38]
Chr22:33670462 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.336G>T (p.Glu112Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001363383] Chr22:33650439 [GRCh38]
Chr22:34046425 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.390G>A (p.Pro130=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001396762] Chr22:33650385 [GRCh38]
Chr22:34046371 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.173G>A (p.Ser58Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001369560] Chr22:33650602 [GRCh38]
Chr22:34046588 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.542T>A (p.Ile181Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001294470] Chr22:33604508 [GRCh38]
Chr22:34000494 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1862C>T (p.Thr621Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001350045] Chr22:33283217 [GRCh38]
Chr22:33679203 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1396G>A (p.Glu466Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001341970] Chr22:33316140 [GRCh38]
Chr22:33712126 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1645G>A (p.Val549Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001344730]|not provided [RCV001664842] Chr22:33304314 [GRCh38]
Chr22:33700300 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1287+2dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV001373671] Chr22:33337643..33337644 [GRCh38]
Chr22:33733629..33733630 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1799T>C (p.Leu600Pro) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001314547] Chr22:33283280 [GRCh38]
Chr22:33679266 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1201_1202delinsCT (p.Tyr401Leu) indel Muscular dystrophy-dystroglycanopathy type B6 [RCV001321920] Chr22:33337731..33337732 [GRCh38]
Chr22:33733717..33733718 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.118G>C (p.Val40Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001324236]|not provided [RCV001760413] Chr22:33650657 [GRCh38]
Chr22:34046643 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.752T>A (p.Ile251Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001296398] Chr22:33564883 [GRCh38]
Chr22:33960869 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1585G>A (p.Val529Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001344240] Chr22:33304374 [GRCh38]
Chr22:33700360 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1411A>G (p.Ser471Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001341488] Chr22:33316125 [GRCh38]
Chr22:33712111 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.535G>A (p.Glu179Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001327105]|not provided [RCV002292628] Chr22:33604515 [GRCh38]
Chr22:34000501 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.222G>T (p.Glu74Asp) single nucleotide variant Inborn genetic diseases [RCV002543514]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001309138] Chr22:33650553 [GRCh38]
Chr22:34046539 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.106+6A>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001326089] Chr22:33761365 [GRCh38]
Chr22:34157352 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1612G>A (p.Gly538Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV001335182] Chr22:33304347 [GRCh38]
Chr22:33700333 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1005+5G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001295499] Chr22:33384187 [GRCh38]
Chr22:33780173 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.57C>T (p.Leu19=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001414069] Chr22:33761420 [GRCh38]
Chr22:34157407 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2234C>A (p.Ala745Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001365342] Chr22:33274464 [GRCh38]
Chr22:33670450 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.265C>G (p.Arg89Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001361177] Chr22:33650510 [GRCh38]
Chr22:34046496 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.690T>C (p.Thr230=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001464899]|not provided [RCV001726561] Chr22:33564945 [GRCh38]
Chr22:33960931 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1656G>A (p.Lys552=) single nucleotide variant LARGE1-related disorder [RCV003900609]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001466633] Chr22:33304303 [GRCh38]
Chr22:33700289 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1704C>T (p.Pro568=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001475591] Chr22:33304255 [GRCh38]
Chr22:33700241 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.159G>A (p.Arg53=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001423478] Chr22:33650616 [GRCh38]
Chr22:34046602 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1626C>T (p.Pro542=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001491925] Chr22:33304333 [GRCh38]
Chr22:33700319 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.186C>G (p.Arg62=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001426978] Chr22:33650589 [GRCh38]
Chr22:34046575 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.117C>T (p.Pro39=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001506650] Chr22:33650658 [GRCh38]
Chr22:34046644 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1185G>A (p.Glu395=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001402208] Chr22:33337748 [GRCh38]
Chr22:33733734 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1206G>A (p.Leu402=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001446578] Chr22:33337727 [GRCh38]
Chr22:33733713 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1746G>A (p.Gln582=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001423459] Chr22:33283333 [GRCh38]
Chr22:33679319 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2226C>T (p.Tyr742=) single nucleotide variant LARGE1-related disorder [RCV003953811]|Muscular dystrophy-dystroglycanopathy type B6 [RCV001437185] Chr22:33274472 [GRCh38]
Chr22:33670458 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1381C>T (p.Leu461=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001408249] Chr22:33316155 [GRCh38]
Chr22:33712141 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-5_826del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001377038] Chr22:33432227..33432270 [GRCh38]
Chr22:33828213..33828256 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.620_621del (p.Glu207fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001381780] Chr22:33565014..33565015 [GRCh38]
Chr22:33961000..33961001 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1932C>T (p.Thr644=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001411705] Chr22:33277201 [GRCh38]
Chr22:33673187 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-331_788-330insATGCGTGA insertion not provided [RCV001690568] Chr22:33432595..33432596 [GRCh38]
Chr22:33828581..33828582 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.787+286G>T single nucleotide variant not provided [RCV001715002] Chr22:33564562 [GRCh38]
Chr22:33960548 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.1877+99C>T single nucleotide variant not provided [RCV001581672] Chr22:33283103 [GRCh38]
Chr22:33679089 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.491+204G>A single nucleotide variant not provided [RCV001581782] Chr22:33626040 [GRCh38]
Chr22:34022024 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-64_893-55del deletion not provided [RCV001609272] Chr22:33384359..33384368 [GRCh38]
Chr22:33780345..33780354 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.408+269G>A single nucleotide variant not provided [RCV001591525] Chr22:33650098 [GRCh38]
Chr22:34046084 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.321C>A (p.Gly107=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001452952] Chr22:33650454 [GRCh38]
Chr22:34046440 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1451+197T>C single nucleotide variant not provided [RCV001714516] Chr22:33315888 [GRCh38]
Chr22:33711874 [GRCh37]
Chr22:22q12.3		 benign
NM_133642.5(LARGE1):c.417C>T (p.His139=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001505383]|not provided [RCV003434295] Chr22:33626318 [GRCh38]
Chr22:34022302 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-9G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001482770] Chr22:33384313 [GRCh38]
Chr22:33780299 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.252C>T (p.Ser84=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001490483]|not provided [RCV003883670] Chr22:33650523 [GRCh38]
Chr22:34046509 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.2074-8T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001452740] Chr22:33274632 [GRCh38]
Chr22:33670618 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.21G>T (p.Gly7=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001415598] Chr22:33761456 [GRCh38]
Chr22:34157443 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.87G>C (p.Leu29=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001429846] Chr22:33761390 [GRCh38]
Chr22:34157377 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1182G>C (p.Val394=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001402036] Chr22:33337751 [GRCh38]
Chr22:33733737 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2091G>A (p.Val697=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001437361] Chr22:33274607 [GRCh38]
Chr22:33670593 [GRCh37]
Chr22:22q12.3		 likely benign
NC_000022.10:g.(?_34022218)_(34157473_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001386647] Chr22:34022218..34157473 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33828137)_(34157473_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001386648] Chr22:33828137..34157473 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33960824)_(34022320_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001386649] Chr22:33960824..34022320 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2142T>C (p.Ile714=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001505825] Chr22:33274556 [GRCh38]
Chr22:33670542 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2219G>A (p.Arg740His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003107176] Chr22:33274479 [GRCh38]
Chr22:33670465 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1019C>T (p.Ala340Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003107068] Chr22:33382031 [GRCh38]
Chr22:33778017 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1570A>C (p.Met524Leu) single nucleotide variant not provided [RCV001755202] Chr22:33304389 [GRCh38]
Chr22:33700375 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.-83+187C>T single nucleotide variant not provided [RCV002254050] Chr22:33919808 [GRCh38]
Chr22:34315796 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.871del (p.Gly292fs) deletion not provided [RCV001783593] Chr22:33432182 [GRCh38]
Chr22:33828168 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1802G>A (p.Arg601His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001882875]|not provided [RCV001771005] Chr22:33283277 [GRCh38]
Chr22:33679263 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1390G>A (p.Glu464Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001870443] Chr22:33316146 [GRCh38]
Chr22:33712132 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1685C>T (p.Ser562Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002036829] Chr22:33304274 [GRCh38]
Chr22:33700260 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.281G>A (p.Arg94His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002038898] Chr22:33650494 [GRCh38]
Chr22:34046480 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1209del (p.Phe404fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001870701] Chr22:33337724 [GRCh38]
Chr22:33733710 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.895G>A (p.Val299Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001823648] Chr22:33384302 [GRCh38]
Chr22:33780288 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.152G>A (p.Ser51Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001878524] Chr22:33650623 [GRCh38]
Chr22:34046609 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.344G>T (p.Arg115Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001878123] Chr22:33650431 [GRCh38]
Chr22:34046417 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1093C>T (p.Arg365Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001874848] Chr22:33381957 [GRCh38]
Chr22:33777943 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33923345-33983594)x1 copy number loss not provided [RCV001827911] Chr22:33923345..33983594 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1654A>G (p.Lys552Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002001935] Chr22:33304305 [GRCh38]
Chr22:33700291 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.755C>T (p.Ala252Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002010332]|not provided [RCV003134336] Chr22:33564880 [GRCh38]
Chr22:33960866 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.533C>T (p.Ala178Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002012562] Chr22:33604517 [GRCh38]
Chr22:34000503 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.922_923delinsAA (p.Arg308Lys) indel Muscular dystrophy-dystroglycanopathy type B6 [RCV001866699] Chr22:33384274..33384275 [GRCh38]
Chr22:33780260..33780261 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1544G>A (p.Arg515His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002024323] Chr22:33304415 [GRCh38]
Chr22:33700401 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.592T>A (p.Phe198Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001863781] Chr22:33604458 [GRCh38]
Chr22:34000444 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.492-10C>T single nucleotide variant LARGE1-related disorder [RCV003968684]|Muscular dystrophy-dystroglycanopathy type B6 [RCV002025624] Chr22:33604568 [GRCh38]
Chr22:34000554 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2206C>G (p.Gln736Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001876730] Chr22:33274492 [GRCh38]
Chr22:33670478 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.606C>G (p.Asp202Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002033308] Chr22:33604444 [GRCh38]
Chr22:34000430 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.185G>T (p.Arg62Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002033771] Chr22:33650590 [GRCh38]
Chr22:34046576 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1702C>G (p.Pro568Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002036305] Chr22:33304257 [GRCh38]
Chr22:33700243 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.974T>C (p.Met325Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002042642] Chr22:33384223 [GRCh38]
Chr22:33780209 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.512A>G (p.His171Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002036869] Chr22:33604538 [GRCh38]
Chr22:34000524 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1933G>A (p.Ala645Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002047057] Chr22:33277200 [GRCh38]
Chr22:33673186 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.176A>T (p.Gln59Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002026316] Chr22:33650599 [GRCh38]
Chr22:34046585 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.590A>C (p.Asp197Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002004868] Chr22:33604460 [GRCh38]
Chr22:34000446 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.958G>T (p.Ala320Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002017969] Chr22:33384239 [GRCh38]
Chr22:33780225 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34109004-34227501) copy number loss not specified [RCV002052751] Chr22:34109004..34227501 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1241G>A (p.Arg414Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002018918] Chr22:33337692 [GRCh38]
Chr22:33733678 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.140C>T (p.Ser47Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002017541] Chr22:33650635 [GRCh38]
Chr22:34046621 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_34157338)_(34157463_?)dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV002023166] Chr22:34157338..34157463 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1162C>T (p.Arg388Trp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002023506]|not provided [RCV003491017] Chr22:33337771 [GRCh38]
Chr22:33733757 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1586T>C (p.Val529Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002036886] Chr22:33304373 [GRCh38]
Chr22:33700359 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1279A>G (p.Ser427Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002033654] Chr22:33337654 [GRCh38]
Chr22:33733640 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34163354-34262390) copy number loss not specified [RCV002052752] Chr22:34163354..34262390 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1002C>A (p.Asp334Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001999103] Chr22:33384195 [GRCh38]
Chr22:33780181 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1664G>A (p.Ser555Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002001457] Chr22:33304295 [GRCh38]
Chr22:33700281 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.424A>G (p.Ile142Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002004368]|not provided [RCV003491009] Chr22:33626311 [GRCh38]
Chr22:34022295 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1730+1G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002010439] Chr22:33304228 [GRCh38]
Chr22:33700214 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1570A>T (p.Met524Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002016844] Chr22:33304389 [GRCh38]
Chr22:33700375 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1131+12_1131+13insAACAGAGGGACATCCCTGGAGGTAGGGTG insertion Muscular dystrophy-dystroglycanopathy type B6 [RCV002017307] Chr22:33381906..33381907 [GRCh38]
Chr22:33777892..33777893 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.1743C>G (p.Ile581Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002033955] Chr22:33283336 [GRCh38]
Chr22:33679322 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.247C>T (p.Leu83Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002036028]|not provided [RCV004729033] Chr22:33650528 [GRCh38]
Chr22:34046514 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33712051)_(33733807_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV002002435] Chr22:33712051..33733807 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1597A>G (p.Ile533Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001999410] Chr22:33304362 [GRCh38]
Chr22:33700348 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1811del (p.Leu604fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001993296] Chr22:33283268 [GRCh38]
Chr22:33679254 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1331A>G (p.Tyr444Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002044076] Chr22:33316205 [GRCh38]
Chr22:33712191 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.488A>G (p.His163Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002007829] Chr22:33626247 [GRCh38]
Chr22:34022231 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34220630-34281098) copy number loss not specified [RCV002052753] Chr22:34220630..34281098 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:34210930-34463313)x3 copy number gain not provided [RCV001834498] Chr22:34210930..34463313 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1287+13C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001957535] Chr22:33337633 [GRCh38]
Chr22:33733619 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NC_000022.10:g.(?_33700195)_(33712254_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001958826] Chr22:33700195..33712254 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1277A>C (p.Asn426Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001904187] Chr22:33337656 [GRCh38]
Chr22:33733642 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.510C>G (p.Phe170Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001905851] Chr22:33604540 [GRCh38]
Chr22:34000526 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_29083885)_(34046674_?)dup duplication not provided [RCV001979643] Chr22:29083885..34046674 [GRCh37]
Chr22:22q12.1-12.3		 uncertain significance
NM_133642.5(LARGE1):c.599A>G (p.Asn200Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001950027]|not provided [RCV004697167] Chr22:33604451 [GRCh38]
Chr22:34000437 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.8G>C (p.Gly3Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001950711] Chr22:33761469 [GRCh38]
Chr22:34157456 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.494G>A (p.Arg165Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001950215] Chr22:33604556 [GRCh38]
Chr22:34000542 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.47T>G (p.Leu16Trp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001984006] Chr22:33761430 [GRCh38]
Chr22:34157417 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33828127)_(33961025_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001958959] Chr22:33828127..33961025 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.246G>T (p.Gln82His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001904389]|not provided [RCV003329417] Chr22:33650529 [GRCh38]
Chr22:34046515 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.284G>A (p.Arg95Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001905138]|not provided [RCV003132572] Chr22:33650491 [GRCh38]
Chr22:34046477 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1998C>G (p.Asp666Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001960426] Chr22:33277135 [GRCh38]
Chr22:33673121 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1885G>A (p.Val629Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001885839] Chr22:33277248 [GRCh38]
Chr22:33673234 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.583C>T (p.Arg195Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001944261] Chr22:33604467 [GRCh38]
Chr22:34000453 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.326G>C (p.Gly109Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001885515] Chr22:33650449 [GRCh38]
Chr22:34046435 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.118G>T (p.Val40Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001889711]|not provided [RCV003134176] Chr22:33650657 [GRCh38]
Chr22:34046643 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_32232938)_(34157463_?)dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV001920547] Chr22:32232938..34157463 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33960814)_(33961025_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001950935] Chr22:33960814..33961025 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1385A>G (p.His462Arg) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001897740] Chr22:33316151 [GRCh38]
Chr22:33712137 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2171G>A (p.Arg724His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001898626] Chr22:33274527 [GRCh38]
Chr22:33670513 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33733612)_(33828271_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001956525] Chr22:33733612..33828271 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_34157338)_(34157463_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001958825] Chr22:34157338..34157463 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2074-6T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001939672] Chr22:33274630 [GRCh38]
Chr22:33670616 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1192C>T (p.Arg398Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001973004] Chr22:33337741 [GRCh38]
Chr22:33733727 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33733612)_(34157463_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001946775] Chr22:33733612..34157463 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33670403)_(33828261_?)dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV001920548] Chr22:33670403..33828261 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1501C>G (p.Leu501Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001979979] Chr22:33304458 [GRCh38]
Chr22:33700444 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33670403)_(33679344_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV001918790] Chr22:33670403..33679344 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.265C>T (p.Arg89Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001941784] Chr22:33650510 [GRCh38]
Chr22:34046496 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.621A>C (p.Glu207Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001923739] Chr22:33565014 [GRCh38]
Chr22:33961000 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1663A>G (p.Ser555Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001886057]|not provided [RCV003134177] Chr22:33304296 [GRCh38]
Chr22:33700282 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1676T>A (p.Met559Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001888573] Chr22:33304283 [GRCh38]
Chr22:33700269 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2256C>A (p.Ala752=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001971867] Chr22:33274442 [GRCh38]
Chr22:33670428 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.442A>C (p.Asn148His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV001933115] Chr22:33626293 [GRCh38]
Chr22:34022277 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.492-20C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002110375] Chr22:33604578 [GRCh38]
Chr22:34000564 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh38/hg38 22q12.3(chr22:32940883-33084286)x3 copy number gain See cases [RCV000052853] Chr22:32940883..33084286 [GRCh38]
Chr22:33336868..33480272 [GRCh37]
Chr22:31666868..31810272 [NCBI36]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1005+12G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002076419] Chr22:33384180 [GRCh38]
Chr22:33780166 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+12A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002110550] Chr22:33381907 [GRCh38]
Chr22:33777893 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.483G>A (p.Leu161=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002127142] Chr22:33626252 [GRCh38]
Chr22:34022236 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+14del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV002108666] Chr22:33564834 [GRCh38]
Chr22:33960820 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1623C>T (p.Tyr541=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002190956] Chr22:33304336 [GRCh38]
Chr22:33700322 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1920C>A (p.Ala640=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002206141] Chr22:33277213 [GRCh38]
Chr22:33673199 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.491+11C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002205310] Chr22:33626233 [GRCh38]
Chr22:34022217 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.183G>A (p.Glu61=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002192950] Chr22:33650592 [GRCh38]
Chr22:34046578 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2079T>C (p.Tyr693=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002126330] Chr22:33274619 [GRCh38]
Chr22:33670605 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.822T>C (p.Ser274=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002169803] Chr22:33432231 [GRCh38]
Chr22:33828217 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.27G>A (p.Arg9=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002076009] Chr22:33761450 [GRCh38]
Chr22:34157437 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1557C>T (p.Gly519=) single nucleotide variant LARGE1-related disorder [RCV003971146]|Muscular dystrophy-dystroglycanopathy type B6 [RCV002185968] Chr22:33304402 [GRCh38]
Chr22:33700388 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1878-12C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002090863] Chr22:33277267 [GRCh38]
Chr22:33673253 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1593C>T (p.Tyr531=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002147355] Chr22:33304366 [GRCh38]
Chr22:33700352 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.459C>T (p.Val153=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002108087] Chr22:33626276 [GRCh38]
Chr22:34022260 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1503G>T (p.Leu501=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002147522] Chr22:33304456 [GRCh38]
Chr22:33700442 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-20C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002125529] Chr22:33565039 [GRCh38]
Chr22:33961025 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1095C>A (p.Arg365=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002130214] Chr22:33381955 [GRCh38]
Chr22:33777941 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.957C>T (p.Thr319=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002084670] Chr22:33384240 [GRCh38]
Chr22:33780226 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1941G>A (p.Thr647=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002216388] Chr22:33277192 [GRCh38]
Chr22:33673178 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.276C>T (p.Ser92=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002104384] Chr22:33650499 [GRCh38]
Chr22:34046485 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1905A>G (p.Ala635=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002087861] Chr22:33277228 [GRCh38]
Chr22:33673214 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+12G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002096264] Chr22:33337634 [GRCh38]
Chr22:33733620 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.525C>T (p.Asp175=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002196785] Chr22:33604525 [GRCh38]
Chr22:34000511 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1014C>T (p.Phe338=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002205317] Chr22:33382036 [GRCh38]
Chr22:33778022 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+12G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002126256] Chr22:33337634 [GRCh38]
Chr22:33733620 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.491+11C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002170593] Chr22:33626233 [GRCh38]
Chr22:34022217 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-18G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002133005] Chr22:33274642 [GRCh38]
Chr22:33670628 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1884C>T (p.His628=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002094679] Chr22:33277249 [GRCh38]
Chr22:33673235 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.546G>A (p.Leu182=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002152812] Chr22:33604504 [GRCh38]
Chr22:34000490 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2169C>T (p.Tyr723=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002080857] Chr22:33274529 [GRCh38]
Chr22:33670515 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.492-14C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002172225] Chr22:33604572 [GRCh38]
Chr22:34000558 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.259C>A (p.Gln87Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002096033]|not provided [RCV002243517] Chr22:33650516 [GRCh38]
Chr22:34046502 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.573G>C (p.Val191=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002091844] Chr22:33604477 [GRCh38]
Chr22:34000463 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-3del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV002092276] Chr22:33274627 [GRCh38]
Chr22:33670613 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-14C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002157467] Chr22:33382058 [GRCh38]
Chr22:33778044 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-8C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002103510] Chr22:33316256 [GRCh38]
Chr22:33712242 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.219G>A (p.Glu73=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002138812] Chr22:33650556 [GRCh38]
Chr22:34046542 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1451+11C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002083600] Chr22:33316074 [GRCh38]
Chr22:33712060 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1005+17G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002083615] Chr22:33384175 [GRCh38]
Chr22:33780161 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-18C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002137805] Chr22:33316266 [GRCh38]
Chr22:33712252 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-8C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002118701] Chr22:33650676 [GRCh38]
Chr22:34046662 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1462C>T (p.Leu488=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002182077] Chr22:33304497 [GRCh38]
Chr22:33700483 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-17T>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002154117] Chr22:33432282 [GRCh38]
Chr22:33828268 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1893G>T (p.Thr631=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002163795] Chr22:33277240 [GRCh38]
Chr22:33673226 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.942G>A (p.Gln314=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002084406] Chr22:33384255 [GRCh38]
Chr22:33780241 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1434T>G (p.Ala478=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002204724] Chr22:33316102 [GRCh38]
Chr22:33712088 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-5C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002182437] Chr22:33382049 [GRCh38]
Chr22:33778035 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1617G>A (p.Gln539=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002101756] Chr22:33304342 [GRCh38]
Chr22:33700328 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1683G>A (p.Leu561=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002081388] Chr22:33304276 [GRCh38]
Chr22:33700262 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.216G>T (p.Val72=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002201871] Chr22:33650559 [GRCh38]
Chr22:34046545 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-19C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002098899] Chr22:33316267 [GRCh38]
Chr22:33712253 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.957C>A (p.Thr319=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002084454] Chr22:33384240 [GRCh38]
Chr22:33780226 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1878-4T>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002103555] Chr22:33277259 [GRCh38]
Chr22:33673245 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1551A>G (p.Ala517=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002081622] Chr22:33304408 [GRCh38]
Chr22:33700394 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1524C>T (p.Ala508=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002104178] Chr22:33304435 [GRCh38]
Chr22:33700421 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.409-18G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002204698] Chr22:33626344 [GRCh38]
Chr22:34022328 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1601T>C (p.Val534Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003118021] Chr22:33304358 [GRCh38]
Chr22:33700344 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1998C>T (p.Asp666=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003112075] Chr22:33277135 [GRCh38]
Chr22:33673121 [GRCh37]
Chr22:22q12.3		 likely benign
NC_000022.10:g.(?_34022208)_(34022330_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003113584] Chr22:34022208..34022330 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33559508)_(33673261_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003113585] Chr22:33559508..33673261 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_34000401)_(34157463_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003113587] Chr22:34000401..34157463 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33960814)_(34157463_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003113588] Chr22:33960814..34157463 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_34000401)_(34046674_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003113589] Chr22:34000401..34046674 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33777885)_(33828271_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003113590] Chr22:33777885..33828271 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.132G>A (p.Pro44=) single nucleotide variant LARGE1-related disorder [RCV003966271]|Muscular dystrophy-dystroglycanopathy type B6 [RCV003112927] Chr22:33650643 [GRCh38]
Chr22:34046629 [GRCh37]
Chr22:22q12.3		 likely benign
NC_000022.10:g.(34157546_34252727)_(34316465_?)dup duplication not specified [RCV004783313] Chr22:34252727..34316465 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.293A>G (p.His98Arg) single nucleotide variant not provided [RCV003149534] Chr22:33650482 [GRCh38]
Chr22:34046468 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1159C>G (p.Leu387Val) single nucleotide variant not provided [RCV002263292] Chr22:33337774 [GRCh38]
Chr22:33733760 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1750G>A (p.Asp584Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003097832]|Muscular dystrophy-dystroglycanopathy type B6 [RCV005025769]|not provided [RCV002293707] Chr22:33283329 [GRCh38]
Chr22:33679315 [GRCh37]
Chr22:22q12.3		 uncertain significance
GRCh37/hg19 22q12.3(chr22:33786251-33872846)x1 copy number loss not provided [RCV002473458] Chr22:33786251..33872846 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1132-2A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002614590] Chr22:33337803 [GRCh38]
Chr22:33733789 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1005+3G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002995592] Chr22:33384189 [GRCh38]
Chr22:33780175 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1021G>A (p.Val341Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002862362] Chr22:33382029 [GRCh38]
Chr22:33778015 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.919C>T (p.Leu307=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002903194] Chr22:33384278 [GRCh38]
Chr22:33780264 [GRCh37]
Chr22:22q12.3		 likely benign
GRCh37/hg19 22q12.3(chr22:33718485-34386473)x1 copy number loss not provided [RCV002475811] Chr22:33718485..34386473 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.500C>G (p.Pro167Arg) single nucleotide variant not provided [RCV002488691] Chr22:33604550 [GRCh38]
Chr22:34000536 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1851G>A (p.Leu617=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002903708] Chr22:33283228 [GRCh38]
Chr22:33679214 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-13dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV002908601] Chr22:33304519..33304520 [GRCh38]
Chr22:33700505..33700506 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.872T>A (p.Leu291His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002755692] Chr22:33432181 [GRCh38]
Chr22:33828167 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.893-21_893-20del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003014847] Chr22:33384324..33384325 [GRCh38]
Chr22:33780310..33780311 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1339C>T (p.Arg447Trp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002614331] Chr22:33316197 [GRCh38]
Chr22:33712183 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.550A>G (p.Thr184Ala) single nucleotide variant not provided [RCV002512199] Chr22:33604500 [GRCh38]
Chr22:34000486 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1549G>A (p.Ala517Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002974841] Chr22:33304410 [GRCh38]
Chr22:33700396 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.555C>G (p.Leu185=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003076635] Chr22:33604495 [GRCh38]
Chr22:34000481 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1932C>G (p.Thr644=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002996905] Chr22:33277201 [GRCh38]
Chr22:33673187 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2116A>G (p.Met706Val) single nucleotide variant Inborn genetic diseases [RCV002708290]|not provided [RCV003130871] Chr22:33274582 [GRCh38]
Chr22:33670568 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2139C>T (p.Asp713=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002572137] Chr22:33274559 [GRCh38]
Chr22:33670545 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1978T>C (p.Tyr660His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002637457] Chr22:33277155 [GRCh38]
Chr22:33673141 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.731A>G (p.Asp244Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002705642] Chr22:33564904 [GRCh38]
Chr22:33960890 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.984C>G (p.Leu328=) single nucleotide variant LARGE1-related disorder [RCV003916575]|Muscular dystrophy-dystroglycanopathy type B6 [RCV002886361] Chr22:33384213 [GRCh38]
Chr22:33780199 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.234C>T (p.Ala78=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003077184] Chr22:33650541 [GRCh38]
Chr22:34046527 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-16T>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003054990] Chr22:33274640 [GRCh38]
Chr22:33670626 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2078A>G (p.Tyr693Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002795670] Chr22:33274620 [GRCh38]
Chr22:33670606 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.987T>C (p.Ser329=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002694832] Chr22:33384210 [GRCh38]
Chr22:33780196 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2261ACA[1] (p.Asn755del) microsatellite Muscular dystrophy-dystroglycanopathy type B6 [RCV002760764] Chr22:33274432..33274434 [GRCh38]
Chr22:33670418..33670420 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1927C>T (p.Arg643Trp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002912792] Chr22:33277206 [GRCh38]
Chr22:33673192 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1878-11G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003078445] Chr22:33277266 [GRCh38]
Chr22:33673252 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2170C>G (p.Arg724Gly) single nucleotide variant Inborn genetic diseases [RCV002884353] Chr22:33274528 [GRCh38]
Chr22:33670514 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.892+11_892+12del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003078042] Chr22:33432149..33432150 [GRCh38]
Chr22:33828135..33828136 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.408+18C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002870867] Chr22:33650349 [GRCh38]
Chr22:34046335 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-11T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002824200] Chr22:33274635 [GRCh38]
Chr22:33670621 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.229C>G (p.Arg77Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002619395] Chr22:33650546 [GRCh38]
Chr22:34046532 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.164C>A (p.Thr55Lys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002866942]|not provided [RCV003130767] Chr22:33650611 [GRCh38]
Chr22:34046597 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1636C>T (p.Leu546=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002736276] Chr22:33304323 [GRCh38]
Chr22:33700309 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.615+7dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV002926964] Chr22:33604427..33604428 [GRCh38]
Chr22:34000413..34000414 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.321C>T (p.Gly107=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002953177] Chr22:33650454 [GRCh38]
Chr22:34046440 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.445G>T (p.Ala149Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003084645]|not provided [RCV003134646] Chr22:33626290 [GRCh38]
Chr22:34022274 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1880A>C (p.Tyr627Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002791541] Chr22:33277253 [GRCh38]
Chr22:33673239 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1452-9C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003042927] Chr22:33304516 [GRCh38]
Chr22:33700502 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.473A>C (p.Lys158Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003026161] Chr22:33626262 [GRCh38]
Chr22:34022246 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.492-6C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002932819] Chr22:33604564 [GRCh38]
Chr22:34000550 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1016A>G (p.Asn339Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002876012] Chr22:33382034 [GRCh38]
Chr22:33778020 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1288-10T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002894281] Chr22:33316258 [GRCh38]
Chr22:33712244 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1272T>A (p.Asp424Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002642887] Chr22:33337661 [GRCh38]
Chr22:33733647 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1288-7C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002625888] Chr22:33316255 [GRCh38]
Chr22:33712241 [GRCh37]
Chr22:22q12.3		 likely benign|uncertain significance
NM_133642.5(LARGE1):c.2253A>G (p.Thr751=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003084449] Chr22:33274445 [GRCh38]
Chr22:33670431 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.392T>C (p.Val131Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002790134] Chr22:33650383 [GRCh38]
Chr22:34046369 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.576C>G (p.Pro192=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002624057] Chr22:33604474 [GRCh38]
Chr22:34000460 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1451+13G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002624516] Chr22:33316072 [GRCh38]
Chr22:33712058 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-7C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003022286] Chr22:33274631 [GRCh38]
Chr22:33670617 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2247T>C (p.Tyr749=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002575646] Chr22:33274451 [GRCh38]
Chr22:33670437 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1864C>G (p.Leu622Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002596307] Chr22:33283215 [GRCh38]
Chr22:33679201 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2221C>T (p.Arg741Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002664161] Chr22:33274477 [GRCh38]
Chr22:33670463 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.616-26CT[6] microsatellite Muscular dystrophy-dystroglycanopathy type B6 [RCV003082611] Chr22:33565035..33565036 [GRCh38]
Chr22:33961021..33961022 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1940C>T (p.Thr647Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002644101] Chr22:33277193 [GRCh38]
Chr22:33673179 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1131+15G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002983121] Chr22:33381904 [GRCh38]
Chr22:33777890 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-9G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003041738] Chr22:33650677 [GRCh38]
Chr22:34046663 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.443A>G (p.Asn148Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002573993] Chr22:33626292 [GRCh38]
Chr22:34022276 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1616_1620delinsG (p.Gln539fs) indel Muscular dystrophy-dystroglycanopathy type B6 [RCV002700645] Chr22:33304339..33304343 [GRCh38]
Chr22:33700325..33700329 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.893-9_893-8insATCCTGTGCTGCTGCCCAGGGGTG insertion Muscular dystrophy-dystroglycanopathy type B6 [RCV002875550] Chr22:33384312..33384313 [GRCh38]
Chr22:33780298..33780299 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1224C>T (p.Asp408=) single nucleotide variant LARGE1-related disorder [RCV004757553]|Muscular dystrophy-dystroglycanopathy type B6 [RCV002918514] Chr22:33337709 [GRCh38]
Chr22:33733695 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.354C>T (p.Ile118=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002928592] Chr22:33650421 [GRCh38]
Chr22:34046407 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-9T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002642309] Chr22:33283357 [GRCh38]
Chr22:33679343 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1308G>C (p.Glu436Asp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003060244]|not provided [RCV004790336] Chr22:33316228 [GRCh38]
Chr22:33712214 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.856C>T (p.Arg286Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002631247] Chr22:33432197 [GRCh38]
Chr22:33828183 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.491+14C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003065119] Chr22:33626230 [GRCh38]
Chr22:34022214 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2099A>G (p.Asn700Ser) single nucleotide variant Inborn genetic diseases [RCV002836010]|Muscular dystrophy-dystroglycanopathy type B6 [RCV005099723] Chr22:33274599 [GRCh38]
Chr22:33670585 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.588G>A (p.Val196=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003031017] Chr22:33604462 [GRCh38]
Chr22:34000448 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+4G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002770369] Chr22:33381915 [GRCh38]
Chr22:33777901 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1451+12G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003045456] Chr22:33316073 [GRCh38]
Chr22:33712059 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.6G>A (p.Leu2=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002599117] Chr22:33761471 [GRCh38]
Chr22:34157458 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1849C>A (p.Leu617Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003010175] Chr22:33283230 [GRCh38]
Chr22:33679216 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1842G>A (p.Leu614=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002600188] Chr22:33283237 [GRCh38]
Chr22:33679223 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1371C>T (p.His457=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002962405] Chr22:33316165 [GRCh38]
Chr22:33712151 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+12T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003011490] Chr22:33283190 [GRCh38]
Chr22:33679176 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+17G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002959223] Chr22:33283185 [GRCh38]
Chr22:33679171 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.594C>A (p.Phe198Leu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002597462] Chr22:33604456 [GRCh38]
Chr22:34000442 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2181C>G (p.Leu727=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003009181] Chr22:33274517 [GRCh38]
Chr22:33670503 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.185G>A (p.Arg62His) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002922457] Chr22:33650590 [GRCh38]
Chr22:34046576 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1772C>T (p.Ala591Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002599059] Chr22:33283307 [GRCh38]
Chr22:33679293 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2130C>T (p.Pro710=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002630028] Chr22:33274568 [GRCh38]
Chr22:33670554 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.784A>G (p.Lys262Glu) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002857197] Chr22:33564851 [GRCh38]
Chr22:33960837 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.106+3A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002770646] Chr22:33761368 [GRCh38]
Chr22:34157355 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.408+17G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003010122] Chr22:33650350 [GRCh38]
Chr22:34046336 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1948C>T (p.Arg650Trp) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003065277] Chr22:33277185 [GRCh38]
Chr22:33673171 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.720C>T (p.Val240=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003030387] Chr22:33564915 [GRCh38]
Chr22:33960901 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-11G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002579829] Chr22:33432276 [GRCh38]
Chr22:33828262 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1029A>G (p.Lys343=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002601057] Chr22:33382021 [GRCh38]
Chr22:33778007 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.52C>T (p.Leu18Phe) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003064977] Chr22:33761425 [GRCh38]
Chr22:34157412 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1487A>G (p.Glu496Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003045843] Chr22:33304472 [GRCh38]
Chr22:33700458 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2034C>G (p.Gly678=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003060447] Chr22:33277099 [GRCh38]
Chr22:33673085 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-18C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002814582] Chr22:33565037 [GRCh38]
Chr22:33961023 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2119C>G (p.Pro707Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003051383] Chr22:33274579 [GRCh38]
Chr22:33670565 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.421G>A (p.Ala141Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002722166] Chr22:33626314 [GRCh38]
Chr22:34022298 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1966G>A (p.Asp656Asn) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002635321] Chr22:33277167 [GRCh38]
Chr22:33673153 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1113A>G (p.Arg371=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003093179] Chr22:33381937 [GRCh38]
Chr22:33777923 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1357G>A (p.Val453Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002654121] Chr22:33316179 [GRCh38]
Chr22:33712165 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.788-17T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003068591] Chr22:33432282 [GRCh38]
Chr22:33828268 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-12G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002815109] Chr22:33274636 [GRCh38]
Chr22:33670622 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.122C>T (p.Ser41Phe) single nucleotide variant LARGE1-related disorder [RCV004757545]|Muscular dystrophy-dystroglycanopathy type B6 [RCV002658443] Chr22:33650653 [GRCh38]
Chr22:34046639 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.115C>T (p.Pro39Ser) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002606476] Chr22:33650660 [GRCh38]
Chr22:34046646 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1006-7C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002653193] Chr22:33382051 [GRCh38]
Chr22:33778037 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1948C>A (p.Arg650=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003052768] Chr22:33277185 [GRCh38]
Chr22:33673171 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1497C>G (p.Ile499Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002612034] Chr22:33304462 [GRCh38]
Chr22:33700448 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.303C>T (p.Thr101=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003092350] Chr22:33650472 [GRCh38]
Chr22:34046458 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1602G>A (p.Val534=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV002676923] Chr22:33304357 [GRCh38]
Chr22:33700343 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1060T>G (p.Cys354Gly) single nucleotide variant not provided [RCV003131463] Chr22:33381990 [GRCh38]
Chr22:33777976 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2120C>T (p.Pro707Leu) single nucleotide variant not provided [RCV003131462] Chr22:33274578 [GRCh38]
Chr22:33670564 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.611T>C (p.Leu204Pro) single nucleotide variant not provided [RCV003218885] Chr22:33604439 [GRCh38]
Chr22:34000425 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.862T>C (p.Trp288Arg) single nucleotide variant not provided [RCV003228297] Chr22:33432191 [GRCh38]
Chr22:33828177 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1980TGT[2] (p.Val663del) microsatellite not provided [RCV003134035] Chr22:33277145..33277147 [GRCh38]
Chr22:33673131..33673133 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2162A>G (p.Lys721Arg) single nucleotide variant not provided [RCV003134033] Chr22:33274536 [GRCh38]
Chr22:33670522 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2019G>T (p.Arg673Ser) single nucleotide variant not provided [RCV003134034] Chr22:33277114 [GRCh38]
Chr22:33673100 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1453C>A (p.Leu485Ile) single nucleotide variant not provided [RCV003134037] Chr22:33304506 [GRCh38]
Chr22:33700492 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1711G>A (p.Gly571Arg) single nucleotide variant not provided [RCV003134039] Chr22:33304248 [GRCh38]
Chr22:33700234 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.2105A>T (p.Tyr702Phe) single nucleotide variant not provided [RCV003134040] Chr22:33274593 [GRCh38]
Chr22:33670579 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.665T>C (p.Leu222Pro) single nucleotide variant not provided [RCV003134041] Chr22:33564970 [GRCh38]
Chr22:33960956 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.272C>A (p.Pro91Gln) single nucleotide variant not provided [RCV003134036] Chr22:33650503 [GRCh38]
Chr22:34046489 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.754G>A (p.Ala252Thr) single nucleotide variant not provided [RCV003134038] Chr22:33564881 [GRCh38]
Chr22:33960867 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.787+11C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003875603] Chr22:33564837 [GRCh38]
Chr22:33960823 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.106+7A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003873788] Chr22:33761364 [GRCh38]
Chr22:34157351 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.408+5A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003874651] Chr22:33650362 [GRCh38]
Chr22:34046348 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.483del (p.Phe162fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003447889] Chr22:33626252 [GRCh38]
Chr22:34022236 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1169A>G (p.Lys390Arg) single nucleotide variant not provided [RCV003480388] Chr22:33337764 [GRCh38]
Chr22:33733750 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.491+19C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508381] Chr22:33626225 [GRCh38]
Chr22:34022209 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1005+17G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003506833] Chr22:33384175 [GRCh38]
Chr22:33780161 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.728C>T (p.Thr243Met) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508470] Chr22:33564907 [GRCh38]
Chr22:33960893 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1254C>T (p.Gly418=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508475] Chr22:33337679 [GRCh38]
Chr22:33733665 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-8_1731-7del microsatellite Muscular dystrophy-dystroglycanopathy type B6 [RCV003507068] Chr22:33283355..33283356 [GRCh38]
Chr22:33679341..33679342 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1956G>A (p.Glu652=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508705] Chr22:33277177 [GRCh38]
Chr22:33673163 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.660T>C (p.Tyr220=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507175] Chr22:33564975 [GRCh38]
Chr22:33960961 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1947C>T (p.Tyr649=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507189] Chr22:33277186 [GRCh38]
Chr22:33673172 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.231C>T (p.Arg77=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003878064] Chr22:33650544 [GRCh38]
Chr22:34046530 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.492-5C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508938] Chr22:33604563 [GRCh38]
Chr22:34000549 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-18G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507721] Chr22:33274642 [GRCh38]
Chr22:33670628 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1419C>T (p.Asp473=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507738] Chr22:33316117 [GRCh38]
Chr22:33712103 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-8C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507746] Chr22:33432273 [GRCh38]
Chr22:33828259 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.106+14C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508029] Chr22:33761357 [GRCh38]
Chr22:34157344 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1196A>C (p.Asn399Thr) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508131] Chr22:33337737 [GRCh38]
Chr22:33733723 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1200C>G (p.Leu400=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508159] Chr22:33337733 [GRCh38]
Chr22:33733719 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2190C>T (p.Leu730=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508163] Chr22:33274508 [GRCh38]
Chr22:33670494 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.465C>T (p.Thr155=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003882326] Chr22:33626270 [GRCh38]
Chr22:34022254 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.237C>T (p.Leu79=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508269] Chr22:33650538 [GRCh38]
Chr22:34046524 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1132-11C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507518] Chr22:33337812 [GRCh38]
Chr22:33733798 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+19T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508318] Chr22:33337627 [GRCh38]
Chr22:33733613 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.892+7C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508422] Chr22:33432154 [GRCh38]
Chr22:33828140 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+16T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508432] Chr22:33283186 [GRCh38]
Chr22:33679172 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.120G>A (p.Val40=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508437] Chr22:33650655 [GRCh38]
Chr22:34046641 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-13T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507808] Chr22:33565032 [GRCh38]
Chr22:33961018 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2073+13G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507831] Chr22:33277047 [GRCh38]
Chr22:33673033 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.409-15T>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507846] Chr22:33626341 [GRCh38]
Chr22:34022325 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.972C>T (p.Leu324=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003506982] Chr22:33384225 [GRCh38]
Chr22:33780211 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.204C>T (p.Arg68=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003881343] Chr22:33650571 [GRCh38]
Chr22:34046557 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.351C>T (p.Gly117=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507051] Chr22:33650424 [GRCh38]
Chr22:34046410 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.372C>T (p.Ser124=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508759] Chr22:33650403 [GRCh38]
Chr22:34046389 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.491+20T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507181] Chr22:33626224 [GRCh38]
Chr22:34022208 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1501C>T (p.Leu501=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507188] Chr22:33304458 [GRCh38]
Chr22:33700444 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.129A>G (p.Ser43=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507213] Chr22:33650646 [GRCh38]
Chr22:34046632 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1272T>C (p.Asp424=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507218] Chr22:33337661 [GRCh38]
Chr22:33733647 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1126C>T (p.Leu376=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003875921] Chr22:33381924 [GRCh38]
Chr22:33777910 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1503G>C (p.Leu501=) single nucleotide variant LARGE1-related disorder [RCV003954281]|Muscular dystrophy-dystroglycanopathy type B6 [RCV003508941] Chr22:33304456 [GRCh38]
Chr22:33700442 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-16C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508149] Chr22:33384320 [GRCh38]
Chr22:33780306 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.534G>A (p.Ala178=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508975] Chr22:33604516 [GRCh38]
Chr22:34000502 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1821C>G (p.Pro607=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508982] Chr22:33283258 [GRCh38]
Chr22:33679244 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.642A>G (p.Lys214=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003881415] Chr22:33564993 [GRCh38]
Chr22:33960979 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.357G>T (p.Val119=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507853] Chr22:33650418 [GRCh38]
Chr22:34046404 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.681G>C (p.Leu227=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507953] Chr22:33564954 [GRCh38]
Chr22:33960940 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-13T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507059] Chr22:33384317 [GRCh38]
Chr22:33780303 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.184_187del (p.Glu63fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003508965] Chr22:33650588..33650591 [GRCh38]
Chr22:34046574..34046577 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1733A>T (p.Lys578Met) single nucleotide variant not provided [RCV003488000] Chr22:33283346 [GRCh38]
Chr22:33679332 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1877+8del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003507239] Chr22:33283194 [GRCh38]
Chr22:33679180 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2262C>T (p.Asn754=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508195] Chr22:33274436 [GRCh38]
Chr22:33670422 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1497C>T (p.Ile499=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508378] Chr22:33304462 [GRCh38]
Chr22:33700448 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-7T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507652] Chr22:33384311 [GRCh38]
Chr22:33780297 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.690T>A (p.Thr230=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508523] Chr22:33564945 [GRCh38]
Chr22:33960931 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1659C>T (p.His553=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507814] Chr22:33304300 [GRCh38]
Chr22:33700286 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.495G>T (p.Arg165=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003506919] Chr22:33604555 [GRCh38]
Chr22:34000541 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+1G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003879078] Chr22:33337645 [GRCh38]
Chr22:33733631 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1005+13G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003506754] Chr22:33384179 [GRCh38]
Chr22:33780165 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+13A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003506917] Chr22:33283189 [GRCh38]
Chr22:33679175 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.96del (p.Ser33fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003506918] Chr22:33761381 [GRCh38]
Chr22:34157368 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.491+19C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508508] Chr22:33626225 [GRCh38]
Chr22:34022209 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2064G>A (p.Leu688=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003825574] Chr22:33277069 [GRCh38]
Chr22:33673055 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.615+7G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507012] Chr22:33604428 [GRCh38]
Chr22:34000414 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.933A>G (p.Lys311=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507067] Chr22:33384264 [GRCh38]
Chr22:33780250 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1878-11GT[2] microsatellite Muscular dystrophy-dystroglycanopathy type B6 [RCV003508925] Chr22:33277261..33277262 [GRCh38]
Chr22:33673247..33673248 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-17C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508959] Chr22:33283365 [GRCh38]
Chr22:33679351 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.491+9A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507136] Chr22:33626235 [GRCh38]
Chr22:34022219 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.615+15G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508607] Chr22:33604420 [GRCh38]
Chr22:34000406 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.941_945dup (p.Trp316fs) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV003507607] Chr22:33384251..33384252 [GRCh38]
Chr22:33780237..33780238 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.780G>A (p.Lys260=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508662] Chr22:33564855 [GRCh38]
Chr22:33960841 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1730+16G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508663] Chr22:33304213 [GRCh38]
Chr22:33700199 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1132-16del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003878647] Chr22:33337817 [GRCh38]
Chr22:33733803 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-6C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507541] Chr22:33316254 [GRCh38]
Chr22:33712240 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1878-13C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507719] Chr22:33277268 [GRCh38]
Chr22:33673254 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.528C>T (p.Ser176=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003879505] Chr22:33604522 [GRCh38]
Chr22:34000508 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.705G>A (p.Leu235=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507839] Chr22:33564930 [GRCh38]
Chr22:33960916 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+17G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507887] Chr22:33381902 [GRCh38]
Chr22:33777888 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1390G>T (p.Glu464Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508004] Chr22:33316146 [GRCh38]
Chr22:33712132 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2052T>C (p.His684=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508025] Chr22:33277081 [GRCh38]
Chr22:33673067 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-7T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507894] Chr22:33650675 [GRCh38]
Chr22:34046661 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1812G>A (p.Leu604=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508128] Chr22:33283267 [GRCh38]
Chr22:33679253 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-18C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507755] Chr22:33316266 [GRCh38]
Chr22:33712252 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.922C>A (p.Arg308=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508142] Chr22:33384275 [GRCh38]
Chr22:33780261 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2010C>T (p.Tyr670=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508918] Chr22:33277123 [GRCh38]
Chr22:33673109 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.87G>A (p.Leu29=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508123] Chr22:33761390 [GRCh38]
Chr22:34157377 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.409-16C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003507928] Chr22:33626342 [GRCh38]
Chr22:34022326 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.198G>A (p.Glu66=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508282] Chr22:33650577 [GRCh38]
Chr22:34046563 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+1G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003508323] Chr22:33337645 [GRCh38]
Chr22:33733631 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1451+9G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003506801] Chr22:33316076 [GRCh38]
Chr22:33712062 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1626C>G (p.Pro542=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003811459] Chr22:33304333 [GRCh38]
Chr22:33700319 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1914C>T (p.Asn638=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003849716] Chr22:33277219 [GRCh38]
Chr22:33673205 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1566G>A (p.Val522=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615643] Chr22:33304393 [GRCh38]
Chr22:33700379 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-4C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003834503] Chr22:33565023 [GRCh38]
Chr22:33961009 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1730+13A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615615] Chr22:33304216 [GRCh38]
Chr22:33700202 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+16G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615631] Chr22:33381903 [GRCh38]
Chr22:33777889 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.405C>T (p.Cys135=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615639] Chr22:33650370 [GRCh38]
Chr22:34046356 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.132G>T (p.Pro44=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615640] Chr22:33650643 [GRCh38]
Chr22:34046629 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2271G>A (p.Ter757=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615652] Chr22:33274427 [GRCh38]
Chr22:33670413 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1428G>A (p.Leu476=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615584] Chr22:33316108 [GRCh38]
Chr22:33712094 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-19C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616004] Chr22:33304526 [GRCh38]
Chr22:33700512 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1818C>T (p.Phe606=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616016] Chr22:33283261 [GRCh38]
Chr22:33679247 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.774C>T (p.Phe258=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616044] Chr22:33564861 [GRCh38]
Chr22:33960847 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-12C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616045] Chr22:33316260 [GRCh38]
Chr22:33712246 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1132-4C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616162] Chr22:33337805 [GRCh38]
Chr22:33733791 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1869C>T (p.Phe623=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616190] Chr22:33283210 [GRCh38]
Chr22:33679196 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1761C>T (p.Asn587=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616239] Chr22:33283318 [GRCh38]
Chr22:33679304 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.615+19G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616283] Chr22:33604416 [GRCh38]
Chr22:34000402 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.615+10G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616464] Chr22:33604425 [GRCh38]
Chr22:34000411 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.276C>G (p.Ser92=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616489] Chr22:33650499 [GRCh38]
Chr22:34046485 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.171del (p.Ser58fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003616680] Chr22:33650604 [GRCh38]
Chr22:34046590 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.102C>T (p.Phe34=) single nucleotide variant LARGE1-related disorder [RCV003948917]|Muscular dystrophy-dystroglycanopathy type B6 [RCV003616696] Chr22:33761375 [GRCh38]
Chr22:34157362 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+17G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003835083] Chr22:33337629 [GRCh38]
Chr22:33733615 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2133C>T (p.Ser711=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616748] Chr22:33274565 [GRCh38]
Chr22:33670551 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1372C>T (p.Leu458=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616760] Chr22:33316164 [GRCh38]
Chr22:33712150 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1545C>G (p.Arg515=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616929] Chr22:33304414 [GRCh38]
Chr22:33700400 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-18G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616960] Chr22:33274642 [GRCh38]
Chr22:33670628 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.132G>C (p.Pro44=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617106] Chr22:33650643 [GRCh38]
Chr22:34046629 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.892+8C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617114] Chr22:33432153 [GRCh38]
Chr22:33828139 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1005+11A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617151] Chr22:33384181 [GRCh38]
Chr22:33780167 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-18A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617199] Chr22:33432283 [GRCh38]
Chr22:33828269 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-14G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617247] Chr22:33384318 [GRCh38]
Chr22:33780304 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.255G>A (p.Leu85=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617263] Chr22:33650520 [GRCh38]
Chr22:34046506 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1132-4C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003840377] Chr22:33337805 [GRCh38]
Chr22:33733791 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.124C>T (p.Leu42=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615580] Chr22:33650651 [GRCh38]
Chr22:34046637 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1095C>T (p.Arg365=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615650] Chr22:33381955 [GRCh38]
Chr22:33777941 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1433C>T (p.Ala478Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615678] Chr22:33316103 [GRCh38]
Chr22:33712089 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1877+11C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615658] Chr22:33283191 [GRCh38]
Chr22:33679177 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1030C>T (p.Gln344Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616063] Chr22:33382020 [GRCh38]
Chr22:33778006 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2073+20C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616097] Chr22:33277040 [GRCh38]
Chr22:33673026 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-20C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617262] Chr22:33382064 [GRCh38]
Chr22:33778050 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.756A>G (p.Ala252=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616210] Chr22:33564879 [GRCh38]
Chr22:33960865 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.106+10G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616983] Chr22:33761361 [GRCh38]
Chr22:34157348 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-15C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003815133] Chr22:33432280 [GRCh38]
Chr22:33828266 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-19C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617084] Chr22:33650687 [GRCh38]
Chr22:34046673 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2152C>T (p.Arg718Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617088] Chr22:33274546 [GRCh38]
Chr22:33670532 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.861A>T (p.Pro287=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615727] Chr22:33432192 [GRCh38]
Chr22:33828178 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1770A>G (p.Lys590=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615691] Chr22:33283309 [GRCh38]
Chr22:33679295 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-11T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616056] Chr22:33650679 [GRCh38]
Chr22:34046665 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.696T>C (p.Pro232=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616119] Chr22:33564939 [GRCh38]
Chr22:33960925 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.492-4A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616031] Chr22:33604562 [GRCh38]
Chr22:34000548 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.468G>C (p.Leu156=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616033] Chr22:33626267 [GRCh38]
Chr22:34022251 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+11C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616018] Chr22:33381908 [GRCh38]
Chr22:33777894 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-7T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003833432] Chr22:33565026 [GRCh38]
Chr22:33961012 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.24A>G (p.Arg8=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616246] Chr22:33761453 [GRCh38]
Chr22:34157440 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1131+10A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616295] Chr22:33381909 [GRCh38]
Chr22:33777895 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-14C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616327] Chr22:33565033 [GRCh38]
Chr22:33961019 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.156dup (p.Arg53fs) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV003616218] Chr22:33650618..33650619 [GRCh38]
Chr22:34046604..34046605 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1728C>T (p.Leu576=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616378] Chr22:33304231 [GRCh38]
Chr22:33700217 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.892+11A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616515] Chr22:33432150 [GRCh38]
Chr22:33828136 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.447C>G (p.Ala149=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616527] Chr22:33626288 [GRCh38]
Chr22:34022272 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.691C>A (p.Leu231Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616521] Chr22:33564944 [GRCh38]
Chr22:33960930 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1730+7A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003839919] Chr22:33304222 [GRCh38]
Chr22:33700208 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1383G>A (p.Leu461=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616562] Chr22:33316153 [GRCh38]
Chr22:33712139 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1176G>A (p.Lys392=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616544] Chr22:33337757 [GRCh38]
Chr22:33733743 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.615+12A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616638] Chr22:33604423 [GRCh38]
Chr22:34000409 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.963G>A (p.Glu321=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616677] Chr22:33384234 [GRCh38]
Chr22:33780220 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1392G>A (p.Glu464=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616795] Chr22:33316144 [GRCh38]
Chr22:33712130 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+17G>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616842] Chr22:33283185 [GRCh38]
Chr22:33679171 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1098C>T (p.Ser366=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615590] Chr22:33381952 [GRCh38]
Chr22:33777938 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1374G>A (p.Leu458=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616732] Chr22:33316162 [GRCh38]
Chr22:33712148 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-11del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003616778] Chr22:33382055 [GRCh38]
Chr22:33778041 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.420T>C (p.Val140=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615668] Chr22:33626315 [GRCh38]
Chr22:34022299 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-4C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616804] Chr22:33274628 [GRCh38]
Chr22:33670614 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1808G>A (p.Arg603Gln) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617094] Chr22:33283271 [GRCh38]
Chr22:33679257 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.893-10T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617155] Chr22:33384314 [GRCh38]
Chr22:33780300 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-19A>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616091] Chr22:33384323 [GRCh38]
Chr22:33780309 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1050C>T (p.Tyr350=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616238] Chr22:33382000 [GRCh38]
Chr22:33777986 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.374A>T (p.Glu125Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616151] Chr22:33650401 [GRCh38]
Chr22:34046387 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1731-18C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616437] Chr22:33283366 [GRCh38]
Chr22:33679352 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1288-6C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616412] Chr22:33316254 [GRCh38]
Chr22:33712240 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1287+15_1287+16insGGCTCGCAAAA insertion Muscular dystrophy-dystroglycanopathy type B6 [RCV003616455] Chr22:33337630..33337631 [GRCh38]
Chr22:33733616..33733617 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.241A>C (p.Arg81=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616466] Chr22:33650534 [GRCh38]
Chr22:34046520 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1047G>A (p.Val349=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616485] Chr22:33382003 [GRCh38]
Chr22:33777989 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-2A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616537] Chr22:33432267 [GRCh38]
Chr22:33828253 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.1731-11C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616538] Chr22:33283359 [GRCh38]
Chr22:33679345 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2073+16C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616564] Chr22:33277044 [GRCh38]
Chr22:33673030 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-4C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616354] Chr22:33382048 [GRCh38]
Chr22:33778034 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2196A>G (p.Glu732=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616356] Chr22:33274502 [GRCh38]
Chr22:33670488 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.788-11G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616509] Chr22:33432276 [GRCh38]
Chr22:33828262 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.21G>A (p.Gly7=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616536] Chr22:33761456 [GRCh38]
Chr22:34157443 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.438A>C (p.Gly146=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616587] Chr22:33626297 [GRCh38]
Chr22:34022281 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.123T>C (p.Ser41=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616599] Chr22:33650652 [GRCh38]
Chr22:34046638 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1140C>T (p.His380=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616763] Chr22:33337793 [GRCh38]
Chr22:33733779 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1005+9C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616829] Chr22:33384183 [GRCh38]
Chr22:33780169 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1554G>A (p.Gln518=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616709] Chr22:33304405 [GRCh38]
Chr22:33700391 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1671del (p.Tyr558fs) deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV003616714] Chr22:33304288 [GRCh38]
Chr22:33700274 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.2097C>T (p.Pro699=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616976] Chr22:33274601 [GRCh38]
Chr22:33670587 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+17C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615773] Chr22:33564831 [GRCh38]
Chr22:33960817 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.939G>A (p.Glu313=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617078] Chr22:33384258 [GRCh38]
Chr22:33780244 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.491+14C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616806] Chr22:33626230 [GRCh38]
Chr22:34022214 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1538dup (p.Leu514fs) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV003616817] Chr22:33304420..33304421 [GRCh38]
Chr22:33700406..33700407 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1250T>G (p.Phe417Cys) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616845] Chr22:33337683 [GRCh38]
Chr22:33733669 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.804C>A (p.Gly268=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617273] Chr22:33432249 [GRCh38]
Chr22:33828235 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.297C>T (p.Ser99=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003815813] Chr22:33650478 [GRCh38]
Chr22:34046464 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-13C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616263] Chr22:33304520 [GRCh38]
Chr22:33700506 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1440G>A (p.Leu480=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616972] Chr22:33316096 [GRCh38]
Chr22:33712082 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-15T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617025] Chr22:33384319 [GRCh38]
Chr22:33780305 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2166A>G (p.Gln722=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617044] Chr22:33274532 [GRCh38]
Chr22:33670518 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-6C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616603] Chr22:33650674 [GRCh38]
Chr22:34046660 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+20G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617057] Chr22:33283182 [GRCh38]
Chr22:33679168 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.624T>A (p.Val208=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617068] Chr22:33565011 [GRCh38]
Chr22:33960997 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.807G>A (p.Leu269=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617076] Chr22:33432246 [GRCh38]
Chr22:33828232 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.639T>C (p.Asn213=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617080] Chr22:33564996 [GRCh38]
Chr22:33960982 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.45G>T (p.Ser15=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615616] Chr22:33761432 [GRCh38]
Chr22:34157419 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.750C>T (p.Asp250=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615617] Chr22:33564885 [GRCh38]
Chr22:33960871 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.123T>A (p.Ser41=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616810] Chr22:33650652 [GRCh38]
Chr22:34046638 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+17C>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616814] Chr22:33564831 [GRCh38]
Chr22:33960817 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1119G>C (p.Val373=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617143] Chr22:33381931 [GRCh38]
Chr22:33777917 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1132-10T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617158] Chr22:33337811 [GRCh38]
Chr22:33733797 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1170G>A (p.Lys390=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617159] Chr22:33337763 [GRCh38]
Chr22:33733749 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1006-6C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615728] Chr22:33382050 [GRCh38]
Chr22:33778036 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.912G>A (p.Leu304=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616946] Chr22:33384285 [GRCh38]
Chr22:33780271 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.153C>T (p.Ser51=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003615776] Chr22:33650622 [GRCh38]
Chr22:34046608 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1132-5G>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617169] Chr22:33337806 [GRCh38]
Chr22:33733792 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.408+19C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617012] Chr22:33650348 [GRCh38]
Chr22:34046334 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.15C>T (p.Cys5=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003617234] Chr22:33761462 [GRCh38]
Chr22:34157449 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1638G>A (p.Leu546=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003616051] Chr22:33304321 [GRCh38]
Chr22:33700307 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.801G>C (p.Leu267=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003836597] Chr22:33432252 [GRCh38]
Chr22:33828238 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2160C>T (p.Asn720=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003834221] Chr22:33274538 [GRCh38]
Chr22:33670524 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.616-20C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003844166] Chr22:33565039 [GRCh38]
Chr22:33961025 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.864G>A (p.Trp288Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003820289] Chr22:33432189 [GRCh38]
Chr22:33828175 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1242G>A (p.Arg414=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003860939] Chr22:33337691 [GRCh38]
Chr22:33733677 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.186C>T (p.Arg62=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003861094] Chr22:33650589 [GRCh38]
Chr22:34046575 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1731-10C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003847161] Chr22:33283358 [GRCh38]
Chr22:33679344 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+20T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003870430] Chr22:33564828 [GRCh38]
Chr22:33960814 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.892+19A>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003846730] Chr22:33432142 [GRCh38]
Chr22:33828128 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1539C>T (p.Phe513=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003867800] Chr22:33304420 [GRCh38]
Chr22:33700406 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1536G>A (p.Gln512=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003867801] Chr22:33304423 [GRCh38]
Chr22:33700409 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1488G>A (p.Glu496=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003867802] Chr22:33304471 [GRCh38]
Chr22:33700457 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+18G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003868942] Chr22:33564830 [GRCh38]
Chr22:33960816 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1920C>G (p.Ala640=) single nucleotide variant LARGE1-related disorder [RCV003941421] Chr22:33277213 [GRCh38]
Chr22:33673199 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1257C>T (p.Cys419=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003846262] Chr22:33337676 [GRCh38]
Chr22:33733662 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2046G>A (p.Val682=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003853740] Chr22:33277087 [GRCh38]
Chr22:33673073 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.684C>G (p.Thr228=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003844688] Chr22:33564951 [GRCh38]
Chr22:33960937 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.225G>A (p.Glu75=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003847240] Chr22:33650550 [GRCh38]
Chr22:34046536 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1110C>T (p.Tyr370=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV003863674] Chr22:33381940 [GRCh38]
Chr22:33777926 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-10_893-7del deletion LARGE1-related disorder [RCV003899819] Chr22:33384311..33384314 [GRCh38]
Chr22:33780297..33780300 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1314C>T (p.Asp438=) single nucleotide variant not provided [RCV003887468] Chr22:33316222 [GRCh38]
Chr22:33712208 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1730+7A>C single nucleotide variant LARGE1-related disorder [RCV003937225] Chr22:33304222 [GRCh38]
Chr22:33700208 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.893-4C>A single nucleotide variant LARGE1-related disorder [RCV003899735] Chr22:33384308 [GRCh38]
Chr22:33780294 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.44C>T (p.Ser15Leu) single nucleotide variant not provided [RCV003990892] Chr22:33761433 [GRCh38]
Chr22:34157420 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2151C>G (p.Phe717Leu) single nucleotide variant not provided [RCV003989941] Chr22:33274547 [GRCh38]
Chr22:33670533 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1355C>T (p.Thr452Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV003990652] Chr22:33316181 [GRCh38]
Chr22:33712167 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33777885)_(34157463_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583915] Chr22:33777885..34157463 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33670413)_(34046674_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583926] Chr22:33670413..34046674 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_34000401)_(34000564_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583903] Chr22:34000401..34000564 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33960814)_(34000564_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583938] Chr22:33960814..34000564 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.312G>A (p.Met104Ile) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV004691664] Chr22:33650463 [GRCh38]
Chr22:34046449 [GRCh37]
Chr22:22q12.3		 uncertain significance
NC_000022.10:g.(?_33777885)_(33780310_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583963] Chr22:33777885..33780310 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33700195)_(33780310_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583974] Chr22:33700195..33780310 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33828127)_(33961025_?)dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV004583985] Chr22:33828127..33961025 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NC_000022.10:g.(?_34046333)_(34046674_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583892] Chr22:34046333..34046674 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33670413)_(33828271_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583950] Chr22:33670413..33828271 [GRCh37]
Chr22:22q12.3		 pathogenic
NC_000022.10:g.(?_33984774)_(34022277_?)del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004583995] Chr22:33984774..34022277 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.196G>A (p.Glu66Lys) single nucleotide variant not provided [RCV004722081] Chr22:33650579 [GRCh38]
Chr22:34046565 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.106+1218_106+5708del deletion Muscular dystrophy-dystroglycanopathy type B6 [RCV004759752]   uncertain significance
NM_133642.5(LARGE1):c.847A>T (p.Lys283Ter) single nucleotide variant LARGE1-related disorder [RCV004757928] Chr22:33432206 [GRCh38]
Chr22:33828192 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.2074-2A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6 [RCV005002089] Chr22:33274626 [GRCh38]
Chr22:33670612 [GRCh37]
Chr22:22q12.3		 likely pathogenic
NM_133642.5(LARGE1):c.766dup (p.Ala256fs) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV005136049] Chr22:33564868..33564869 [GRCh38]
Chr22:33960854..33960855 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.1731-19G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005139902] Chr22:33283367 [GRCh38]
Chr22:33679353 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+12_787+19dup duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV005138256] Chr22:33564828..33564829 [GRCh38]
Chr22:33960814..33960815 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1877+19T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005114906] Chr22:33283183 [GRCh38]
Chr22:33679169 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.993C>T (p.Ser331=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005119639] Chr22:33384204 [GRCh38]
Chr22:33780190 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1890G>A (p.Trp630Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005107433] Chr22:33277243 [GRCh38]
Chr22:33673229 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.45G>C (p.Ser15=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005087814] Chr22:33761432 [GRCh38]
Chr22:34157419 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2025A>G (p.Val675=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005115761] Chr22:33277108 [GRCh38]
Chr22:33673094 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1451+10A>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005116680] Chr22:33316075 [GRCh38]
Chr22:33712061 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.787+10G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005110957] Chr22:33564838 [GRCh38]
Chr22:33960824 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.75C>G (p.Thr25=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005120355] Chr22:33761402 [GRCh38]
Chr22:34157389 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074-11T>G single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005115263] Chr22:33274635 [GRCh38]
Chr22:33670621 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.181dup (p.Glu61fs) duplication Muscular dystrophy-dystroglycanopathy type B6 [RCV005115303] Chr22:33650593..33650594 [GRCh38]
Chr22:34046579..34046580 [GRCh37]
Chr22:22q12.3		 pathogenic
NM_133642.5(LARGE1):c.171C>A (p.Ser57=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005122862] Chr22:33650604 [GRCh38]
Chr22:34046590 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.201G>A (p.Val67=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005117720] Chr22:33650574 [GRCh38]
Chr22:34046560 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2074G>T (p.Glu692Ter) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005197172] Chr22:33274624 [GRCh38]
Chr22:33670610 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.788-7C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005163145] Chr22:33432272 [GRCh38]
Chr22:33828258 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.107-16G>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005158303] Chr22:33650684 [GRCh38]
Chr22:34046670 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1674C>T (p.Tyr558=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005182482] Chr22:33304285 [GRCh38]
Chr22:33700271 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.165G>A (p.Thr55=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005181011] Chr22:33650610 [GRCh38]
Chr22:34046596 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1406C>T (p.Ala469Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005189559] Chr22:33316130 [GRCh38]
Chr22:33712116 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.508T>G (p.Phe170Val) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005184800] Chr22:33604542 [GRCh38]
Chr22:34000528 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1451+11C>A single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005155324] Chr22:33316074 [GRCh38]
Chr22:33712060 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2235T>C (p.Ala745=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005183815] Chr22:33274463 [GRCh38]
Chr22:33670449 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.151A>G (p.Ser51Gly) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005171161] Chr22:33650624 [GRCh38]
Chr22:34046610 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.1288-19C>T single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005148130] Chr22:33316267 [GRCh38]
Chr22:33712253 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1248G>C (p.Leu416=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005187451] Chr22:33337685 [GRCh38]
Chr22:33733671 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.609G>A (p.Glu203=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005187696] Chr22:33604441 [GRCh38]
Chr22:34000427 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.2055C>A (p.Ile685=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005204485] Chr22:33277078 [GRCh38]
Chr22:33673064 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.284G>C (p.Arg95Pro) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005168207] Chr22:33650491 [GRCh38]
Chr22:34046477 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.303C>A (p.Thr101=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005160939] Chr22:33650472 [GRCh38]
Chr22:34046458 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1452-5T>C single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005176687] Chr22:33304512 [GRCh38]
Chr22:33700498 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.897G>A (p.Val299=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005153992] Chr22:33384300 [GRCh38]
Chr22:33780286 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1038C>T (p.Pro346=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005164484] Chr22:33382012 [GRCh38]
Chr22:33777998 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.322A>G (p.Thr108Ala) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005172313] Chr22:33650453 [GRCh38]
Chr22:34046439 [GRCh37]
Chr22:22q12.3		 uncertain significance
NM_133642.5(LARGE1):c.318G>A (p.Glu106=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005187612] Chr22:33650457 [GRCh38]
Chr22:34046443 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.1293G>A (p.Gln431=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005158207] Chr22:33316243 [GRCh38]
Chr22:33712229 [GRCh37]
Chr22:22q12.3		 likely benign
NM_133642.5(LARGE1):c.234C>G (p.Ala78=) single nucleotide variant Muscular dystrophy-dystroglycanopathy type B6 [RCV005072082] Chr22:33650541 [GRCh38]
Chr22:34046527 [GRCh37]
Chr22:22q12.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:7657
Count of miRNA genes:1298
Interacting mature miRNAs:1675
Transcripts:ENST00000337431, ENST00000354992, ENST00000397394, ENST00000402320, ENST00000413114, ENST00000421768, ENST00000423375, ENST00000430220, ENST00000432776, ENST00000434071, ENST00000437602, ENST00000452586, ENST00000462606, ENST00000476315, ENST00000494763, ENST00000608642, ENST00000609799, ENST00000610186
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597020181GWAS1116255_Hforced expiratory volume, response to bronchodilator QTL GWAS1116255 (human)0.000002forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)223343149233431493Human
597058325GWAS1154399_Hadolescent idiopathic scoliosis QTL GWAS1154399 (human)0.0000006adolescent idiopathic scoliosis223347147833471479Human
597203483GWAS1299557_Hwellbeing measurement QTL GWAS1299557 (human)4e-08wellness/fitness trait (VT:1000152)223383396433833965Human
597249180GWAS1345254_Hlow density lipoprotein cholesterol measurement QTL GWAS1345254 (human)7e-10low density lipoprotein cholesterol measurementblood low density lipoprotein cholesterol level (CMO:0000053)223378277833782779Human
597105168GWAS1201242_Hhigh density lipoprotein cholesterol measurement QTL GWAS1201242 (human)0.0000007high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)223382318033823181Human
407145805GWAS794781_Hage at onset, alcohol dependence QTL GWAS794781 (human)0.000008age at onset, alcohol dependence223368207133682072Human
597079963GWAS1176037_Hcognitive function measurement QTL GWAS1176037 (human)0.000003cognitive behavior trait (VT:0010450)223376153933761540Human
406997708GWAS646684_Hunipolar depression QTL GWAS646684 (human)0.000001unipolar depression223380629733806298Human
597133187GWAS1229261_Hmemory performance, sex interaction measurement QTL GWAS1229261 (human)0.000003memory performance, sex interaction measurement223321390933213910Human
407163612GWAS812588_HFEV/FVC ratio, response to bronchodilator QTL GWAS812588 (human)0.000005FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)223318916233189163Human
597203840GWAS1299914_Hneuroticism measurement QTL GWAS1299914 (human)3e-08neuroticism measurement223383396433833965Human
597320834GWAS1416908_Heducational attainment QTL GWAS1416908 (human)1e-43educational attainment223389303733893038Human
597196417GWAS1292491_Hmemory performance QTL GWAS1292491 (human)0.000007memory performance223369650533696506Human
597320832GWAS1416906_Heducational attainment QTL GWAS1416906 (human)2e-10educational attainment223387345533873456Human
597320833GWAS1416907_Heducational attainment QTL GWAS1416907 (human)1e-09educational attainment223387570133875702Human
597227652GWAS1323726_Hself reported educational attainment QTL GWAS1323726 (human)1e-15self reported educational attainment223388426133884262Human
597094967GWAS1191041_Hneuroticism measurement QTL GWAS1191041 (human)0.000008neuroticism measurement223378690233786903Human
596988851GWAS1108370_Hmemory performance, sex interaction measurement QTL GWAS1108370 (human)0.000003memory performance, sex interaction measurement223321390933213910Human
597029299GWAS1125373_Hself reported educational attainment QTL GWAS1125373 (human)3e-08self reported educational attainment223390076333900764Human
597401148GWAS1497222_Hforced expiratory volume, response to bronchodilator QTL GWAS1497222 (human)0.000004forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)223309312533093126Human
597210033GWAS1306107_Hmajor depressive disorder QTL GWAS1306107 (human)0.000001major depressive disorder223380629733806298Human
407124072GWAS773048_Hvisceral:subcutaneous adipose tissue ratio QTL GWAS773048 (human)0.0000006visceral:subcutaneous adipose tissue ratio223316576033165761Human
597029688GWAS1125762_Hresponse to angiotensin-converting enzyme inhibitor QTL GWAS1125762 (human)0.000004response to angiotensin-converting enzyme inhibitor223377880733778808Human
2289428BW313_HBody weight QTL 313 (human)2.090.0015Body weightBMI221134428437344284Human
407227506GWAS876482_Hurate measurement QTL GWAS876482 (human)0.000007urate measurementblood uric acid level (CMO:0000501)223391186333911864Human
596980395GWAS1099914_Hmemory performance QTL GWAS1099914 (human)0.000007memory performance223369650533696506Human
1581529BP71_HBlood pressure QTL 71 (human)20.001Blood pressurepulse pressure221109496637094966Human
597501278GWAS1597352_Heducational attainment QTL GWAS1597352 (human)9e-11educational attainment223392259433922595Human
597033810GWAS1129884_Hblood protein measurement QTL GWAS1129884 (human)0.000001blood protein amount (VT:0005416)blood protein measurement (CMO:0000028)223387787733877878Human
597145043GWAS1241117_Hself reported educational attainment QTL GWAS1241117 (human)0.000006self reported educational attainment223388426133884262Human
597110993GWAS1207067_Hmathematical ability QTL GWAS1207067 (human)2e-12mathematical ability223390076333900764Human
597092956GWAS1189030_Hobsessive-compulsive symptom measurement QTL GWAS1189030 (human)0.000005anxiety-related behavior trait (VT:0010716)223386885033868851Human
407048204GWAS697180_Hquinolinic acid measurement QTL GWAS697180 (human)0.000008quinolinic acid measurement223317838133178382Human
596957659GWAS1077178_Hisolated dystonia QTL GWAS1077178 (human)0.0000006isolated dystonia223383059733830598Human
597020227GWAS1116301_Hforced expiratory volume, response to bronchodilator QTL GWAS1116301 (human)0.000002forced expiratory volume, response to bronchodilatorforced expiratory volume (CMO:0000254)223342948233429483Human
597053390GWAS1149464_Hhousehold income QTL GWAS1149464 (human)7e-09household income223388426133884262Human
597084876GWAS1180950_Hresponse to ketamine QTL GWAS1180950 (human)0.000005response to ketamine223342846133428462Human
597031241GWAS1127315_Hadverse effect, response to xenobiotic stimulus QTL GWAS1127315 (human)0.0000002adverse effect, response to xenobiotic stimulus223387346933873470Human
597323719GWAS1419793_Hp-cresol sulfate measurement QTL GWAS1419793 (human)8e-09p-cresol sulfate measurement223348414333484144Human
597386746GWAS1482820_HFEV/FVC ratio, response to bronchodilator QTL GWAS1482820 (human)0.000005FEV/FVC ratio, response to bronchodilatorforced expiratory volume to forced vital capacity ratio (CMO:0000241)223309312533093126Human
597117174GWAS1213248_Hself reported educational attainment QTL GWAS1213248 (human)3e-17self reported educational attainment223390076333900764Human
597117173GWAS1213247_Hself reported educational attainment QTL GWAS1213247 (human)3e-10self reported educational attainment223351197833511979Human
596962166GWAS1081685_Hmetabolic syndrome QTL GWAS1081685 (human)9e-10metabolic syndrome223356965333569654Human
597122293GWAS1218367_Hisolated dystonia QTL GWAS1218367 (human)0.0000006isolated dystonia223383059733830598Human
597320830GWAS1416904_Heducational attainment QTL GWAS1416904 (human)6e-09educational attainment223354357233543573Human
597021169GWAS1117243_Hchemokine (C-C motif) ligand 27 measurement QTL GWAS1117243 (human)0.000007chemokine (C-C motif) ligand 27 measurement223368656033686561Human
596972657GWAS1092176_Hmajor depressive disorder QTL GWAS1092176 (human)0.000001major depressive disorder223380629733806298Human
597320831GWAS1416905_Heducational attainment QTL GWAS1416905 (human)4e-13educational attainment223382123733821238Human
597145213GWAS1241287_Hself reported educational attainment QTL GWAS1241287 (human)4e-08self reported educational attainment223388426133884262Human
597329142GWAS1425216_Hbody mass index QTL GWAS1425216 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)223356965333569654Human
597240183GWAS1336257_Heducational attainment QTL GWAS1336257 (human)2e-08educational attainment223389069333890694Human
597021415GWAS1117489_Heotaxin measurement QTL GWAS1117489 (human)0.000001eotaxin measurement223387360633873607Human
597178730GWAS1274804_Hglycosyltransferase-like protein LARGE1 measurement QTL GWAS1274804 (human)3e-17glycosyltransferase-like protein LARGE1 measurement223392008933920090Human
406999601GWAS648577_Hintelligence QTL GWAS648577 (human)4e-08intelligence223386980833869809Human
597233774GWAS1329848_Hschizophrenia QTL GWAS1329848 (human)0.0000001schizophrenia223383311733833118Human
597109743GWAS1205817_Hself reported educational attainment QTL GWAS1205817 (human)6e-16self reported educational attainment223390076333900764Human
597109742GWAS1205816_Hself reported educational attainment QTL GWAS1205816 (human)5e-08self reported educational attainment223387570133875702Human
597109741GWAS1205815_Hself reported educational attainment QTL GWAS1205815 (human)6e-09self reported educational attainment223351475033514751Human
597248998GWAS1345072_Htotal cholesterol measurement QTL GWAS1345072 (human)4e-10total cholesterol measurementblood total cholesterol level (CMO:0000051)223378277833782779Human

Markers in Region
D22S1172  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,674,407 - 33,674,670UniSTSGRCh37
Build 362232,004,407 - 32,004,670RGDNCBI36
Celera2217,476,503 - 17,476,766RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,632,010 - 16,632,273UniSTS
Marshfield Genetic Map2231.3RGD
Marshfield Genetic Map2231.3UniSTS
Genethon Genetic Map2226.0UniSTS
TNG Radiation Hybrid Map227340.0UniSTS
deCODE Assembly Map2237.45UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S1162  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,310,944 - 34,311,098UniSTSGRCh37
Build 362232,640,944 - 32,641,098RGDNCBI36
Celera2218,112,823 - 18,112,982RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,267,787 - 17,267,953UniSTS
Marshfield Genetic Map2231.84RGD
Marshfield Genetic Map2231.84UniSTS
Genethon Genetic Map2226.5UniSTS
deCODE Assembly Map2238.55UniSTS
Whitehead-YAC Contig Map22 UniSTS
STS-T94556  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,877,278 - 33,877,441UniSTSGRCh37
Build 362232,207,278 - 32,207,441RGDNCBI36
Celera2217,679,322 - 17,679,485RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,834,574 - 16,834,737UniSTS
GeneMap99-GB4 RH Map2296.57UniSTS
NCBI RH Map22143.7UniSTS
D22S605  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,995,007 - 33,995,106UniSTSGRCh37
Build 362232,325,007 - 32,325,106RGDNCBI36
Celera2217,797,026 - 17,797,125RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,952,110 - 16,952,209UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S38  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,206,255 - 34,206,475UniSTSGRCh37
Build 362232,536,255 - 32,536,475RGDNCBI36
Celera2218,008,194 - 18,008,414RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,163,051 - 17,163,271UniSTS
Whitehead-RH Map22102.5UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22143.7UniSTS
RH104061  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,208,927 - 34,209,059UniSTSGRCh37
Build 362232,538,927 - 32,539,059RGDNCBI36
Celera2218,010,866 - 18,010,998RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,165,723 - 17,165,855UniSTS
GeneMap99-GB4 RH Map2296.67UniSTS
RH120368  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,882,738 - 33,883,063UniSTSGRCh37
Build 362232,212,738 - 32,213,063RGDNCBI36
Celera2217,684,782 - 17,685,107RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,840,034 - 16,840,359UniSTS
TNG Radiation Hybrid Map227385.0UniSTS
RH122781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,976,565 - 33,976,835UniSTSGRCh37
Build 362232,306,565 - 32,306,835RGDNCBI36
Celera2217,778,590 - 17,778,860RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,933,673 - 16,933,943UniSTS
TNG Radiation Hybrid Map227434.0UniSTS
RH118587  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,176,365 - 34,176,696UniSTSGRCh37
Build 362232,506,365 - 32,506,696RGDNCBI36
Celera2217,978,303 - 17,978,634RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,133,160 - 17,133,491UniSTS
D22S984E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,669,096 - 33,669,245UniSTSGRCh37
Build 362231,999,096 - 31,999,245RGDNCBI36
Celera2217,471,192 - 17,471,341RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,626,699 - 16,626,848UniSTS
G65342  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,046,384 - 34,046,747UniSTSGRCh37
Build 362232,376,384 - 32,376,747RGDNCBI36
Celera2217,848,408 - 17,848,771RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,003,420 - 17,003,783UniSTS
SHGC-143268  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,093,370 - 34,093,645UniSTSGRCh37
Build 362232,423,370 - 32,423,645RGDNCBI36
Celera2217,895,294 - 17,895,577RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,050,267 - 17,050,550UniSTS
TNG Radiation Hybrid Map227501.0UniSTS
SHGC-144435  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,059,159 - 34,059,454UniSTSGRCh37
Build 362232,389,159 - 32,389,454RGDNCBI36
Celera2217,861,185 - 17,861,480RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,016,216 - 17,016,511UniSTS
TNG Radiation Hybrid Map227487.0UniSTS
WI-13920  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,669,096 - 33,669,220UniSTSGRCh37
Build 362231,999,096 - 31,999,220RGDNCBI36
Celera2217,471,192 - 17,471,316RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,626,699 - 16,626,823UniSTS
GeneMap99-GB4 RH Map2297.39UniSTS
Whitehead-RH Map2299.4UniSTS
NCBI RH Map22143.7UniSTS
D22S577  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,095,218 - 34,095,429UniSTSGRCh37
Build 362232,425,218 - 32,425,429RGDNCBI36
Celera2217,897,150 - 17,897,361RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,052,123 - 17,052,334UniSTS
Whitehead-YAC Contig Map22 UniSTS
D22S579  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,096,519 - 34,096,775UniSTSGRCh37
Build 362232,426,519 - 32,426,775RGDNCBI36
Celera2217,898,451 - 17,898,707RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,053,424 - 17,053,680UniSTS
Whitehead-RH Map2299.4UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22143.7UniSTS
D22S739  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,703,365 - 33,703,572UniSTSGRCh37
GRCh372233,703,365 - 33,704,979UniSTSGRCh37
Build 362232,033,365 - 32,033,572RGDNCBI36
Celera2217,505,461 - 17,507,075UniSTS
Celera2217,505,461 - 17,505,668RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,660,970 - 16,662,584UniSTS
HuRef2216,660,970 - 16,661,177UniSTS
Whitehead-RH Map2299.4UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22143.7UniSTS
AL021653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,868,961 - 33,869,086UniSTSGRCh37
Build 362232,198,961 - 32,199,086RGDNCBI36
Celera2217,671,004 - 17,671,129RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,826,256 - 16,826,381UniSTS
DXS7708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,904,876 - 33,904,975UniSTSGRCh37
Build 362232,234,876 - 32,234,975RGDNCBI36
Celera2217,706,915 - 17,707,014RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,862,019 - 16,862,118UniSTS
D22S1203  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,983,531 - 33,983,761UniSTSGRCh37
Build 362232,313,531 - 32,313,761RGDNCBI36
Celera2217,785,554 - 17,785,784RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,940,638 - 16,940,867UniSTS
Stanford-G3 RH Map22810.0UniSTS
Whitehead-YAC Contig Map22 UniSTS
NCBI RH Map22141.7UniSTS
A004Q39  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,669,214 - 33,669,359UniSTSGRCh37
Build 362231,999,214 - 31,999,359RGDNCBI36
Celera2217,471,310 - 17,471,455RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,626,817 - 16,626,962UniSTS
GeneMap99-GB4 RH Map2297.6UniSTS
A002V10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,670,494 - 33,670,607UniSTSGRCh37
Build 362232,000,494 - 32,000,607RGDNCBI36
Celera2217,472,590 - 17,472,703RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,628,097 - 16,628,210UniSTS
GeneMap99-GB4 RH Map2298.12UniSTS
NCBI RH Map22143.7UniSTS
Cda01d03  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372233,669,105 - 33,669,294UniSTSGRCh37
Build 362231,999,105 - 31,999,294RGDNCBI36
Celera2217,471,201 - 17,471,390RGD
Cytogenetic Map22q12.3UniSTS
HuRef2216,626,708 - 16,626,897UniSTS
GeneMap99-GB4 RH Map2296.57UniSTS
NCBI RH Map22143.7UniSTS
SHGC-16516  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,218,000 - 34,218,149UniSTSGRCh37
Build 362232,548,000 - 32,548,149RGDNCBI36
Celera2218,019,947 - 18,020,096RGD
Cytogenetic Map22q12.3UniSTS
HuRef2217,174,803 - 17,174,952UniSTS
GeneMap99-G3 RH Map22780.0UniSTS
G54753  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372234,209,424 - 34,209,767UniSTSGRCh37
Celera2218,011,363 - 18,011,706UniSTS
Cytogenetic Map22q12.3UniSTS
HuRef2217,166,219 - 17,166,562UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
1204 2432 2788 2244 4948 1723 2342 5 622 1912 463 2268 7250 6421 51 3713 849 1737 1610 172

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009929 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362949 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362951 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001362953 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001378631 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_133642 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011530513 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452302 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024452303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441603 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441604 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441605 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047441606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054326138 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067993 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007067994 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485435 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008485436 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI167885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI198348 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI199197 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ007583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK129722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295636 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL008715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL023577 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL096754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL133451 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF057493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR000293 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457413 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF457420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510583 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510588 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510590 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF510591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511439 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF511440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ534877 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ535074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z49866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z54073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z68324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69042 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z69943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z70288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z73421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z73429 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z76736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z77853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z82198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z83846 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z97354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000354992   ⟹   ENSP00000347088
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,920,421 (-)Ensembl
Ensembl Acc Id: ENST00000397394   ⟹   ENSP00000380549
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,272,509 - 33,920,476 (-)Ensembl
Ensembl Acc Id: ENST00000402320   ⟹   ENSP00000385223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,920,414 (-)Ensembl
Ensembl Acc Id: ENST00000413114   ⟹   ENSP00000415546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,922,841 (-)Ensembl
Ensembl Acc Id: ENST00000421232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,166,387 - 33,221,751 (-)Ensembl
Ensembl Acc Id: ENST00000421768   ⟹   ENSP00000403841
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,316,085 - 33,572,262 (-)Ensembl
Ensembl Acc Id: ENST00000423375   ⟹   ENSP00000406000
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,381,919 - 33,873,387 (-)Ensembl
Ensembl Acc Id: ENST00000430220   ⟹   ENSP00000396277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,381,919 - 33,861,624 (-)Ensembl
Ensembl Acc Id: ENST00000432776   ⟹   ENSP00000411065
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,381,919 - 33,873,405 (-)Ensembl
Ensembl Acc Id: ENST00000434071   ⟹   ENSP00000389605
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,381,919 - 33,889,228 (-)Ensembl
Ensembl Acc Id: ENST00000462606
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,650,375 - 33,657,216 (-)Ensembl
Ensembl Acc Id: ENST00000476315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,562,912 - 33,761,476 (-)Ensembl
Ensembl Acc Id: ENST00000494763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,650,440 - 33,922,596 (-)Ensembl
Ensembl Acc Id: ENST00000608642   ⟹   ENSP00000476866
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,162,226 - 33,761,476 (-)Ensembl
Ensembl Acc Id: ENST00000609799   ⟹   ENSP00000476415
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,162,226 - 33,761,476 (-)Ensembl
Ensembl Acc Id: ENST00000610186   ⟹   ENSP00000476364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,162,226 - 33,761,476 (-)Ensembl
Ensembl Acc Id: ENST00000674543   ⟹   ENSP00000501590
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,922,829 (-)Ensembl
Ensembl Acc Id: ENST00000674562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,162,226 - 33,221,746 (-)Ensembl
Ensembl Acc Id: ENST00000674668   ⟹   ENSP00000502103
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
Ensembl Acc Id: ENST00000674708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,604,707 (-)Ensembl
Ensembl Acc Id: ENST00000674780   ⟹   ENSP00000502772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,572,253 (-)Ensembl
Ensembl Acc Id: ENST00000674789   ⟹   ENSP00000501941
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,274,220 - 33,922,596 (-)Ensembl
Ensembl Acc Id: ENST00000674816
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,438,567 (-)Ensembl
Ensembl Acc Id: ENST00000674999   ⟹   ENSP00000502711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,657,216 (-)Ensembl
Ensembl Acc Id: ENST00000675031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,604,232 - 33,626,328 (-)Ensembl
Ensembl Acc Id: ENST00000675277   ⟹   ENSP00000502702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,274,385 - 33,922,561 (-)Ensembl
Ensembl Acc Id: ENST00000675382   ⟹   ENSP00000501800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
Ensembl Acc Id: ENST00000675416   ⟹   ENSP00000502826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,880,672 (-)Ensembl
Ensembl Acc Id: ENST00000676031   ⟹   ENSP00000501663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
Ensembl Acc Id: ENST00000676070   ⟹   ENSP00000502152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,922,829 (-)Ensembl
Ensembl Acc Id: ENST00000676126   ⟹   ENSP00000501966
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
Ensembl Acc Id: ENST00000676132   ⟹   ENSP00000501854
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,861,611 (-)Ensembl
Ensembl Acc Id: ENST00000676217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,162,226 - 33,210,828 (-)Ensembl
Ensembl Acc Id: ENST00000676370   ⟹   ENSP00000502238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2233,273,077 - 33,922,596 (-)Ensembl
RefSeq Acc Id: NM_001362949   ⟹   NP_001349878
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,824 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,380,164 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362951   ⟹   NP_001349880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,563 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,379,903 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001362953   ⟹   NP_001349882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,824 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,380,164 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378624   ⟹   NP_001365553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,563 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,379,903 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378625   ⟹   NP_001365554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,873,329 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,330,658 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378626   ⟹   NP_001365555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,873,329 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,330,658 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378627   ⟹   NP_001365556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,563 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,379,903 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378628   ⟹   NP_001365557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,377,802 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378629   ⟹   NP_001365558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,377,802 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378630   ⟹   NP_001365559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,572,262 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,029,809 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001378631   ⟹   NP_001365560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,572,262 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,029,809 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004737   ⟹   NP_004728
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
GRCh372233,668,509 - 34,316,464 (-)NCBI
Build 362231,999,063 - 32,646,410 (-)NCBI Archive
HuRef2216,626,665 - 17,273,268 (-)ENTREZGENE
CHM1_12233,628,484 - 34,276,127 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,377,802 (-)NCBI
Sequence:
RefSeq Acc Id: NM_133642   ⟹   NP_598397
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
GRCh372233,668,509 - 34,316,464 (-)NCBI
Build 362231,999,063 - 32,646,410 (-)NCBI Archive
HuRef2216,626,665 - 17,273,268 (-)ENTREZGENE
CHM1_12233,628,484 - 34,276,127 (-)NCBI
T2T-CHM13v2.02233,737,382 - 34,377,802 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011530513   ⟹   XP_011528815
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,364,103 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452302   ⟹   XP_024308070
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,162,228 - 33,920,476 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452303   ⟹   XP_024308071
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,363,286 - 33,873,329 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047441599   ⟹   XP_047297555
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,886,655 (-)NCBI
RefSeq Acc Id: XM_047441600   ⟹   XP_047297556
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
RefSeq Acc Id: XM_047441601   ⟹   XP_047297557
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,854,211 (-)NCBI
RefSeq Acc Id: XM_047441602   ⟹   XP_047297558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
RefSeq Acc Id: XM_047441603   ⟹   XP_047297559
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,584,579 (-)NCBI
RefSeq Acc Id: XM_047441604   ⟹   XP_047297560
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,323,137 - 33,920,476 (-)NCBI
RefSeq Acc Id: XM_047441605   ⟹   XP_047297561
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,323,220 - 33,920,476 (-)NCBI
RefSeq Acc Id: XM_047441606   ⟹   XP_047297562
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,162,228 - 33,572,262 (-)NCBI
RefSeq Acc Id: XM_054326133   ⟹   XP_054182108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,737,382 - 34,377,802 (-)NCBI
RefSeq Acc Id: XM_054326134   ⟹   XP_054182109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,737,382 - 34,377,802 (-)NCBI
RefSeq Acc Id: XM_054326135   ⟹   XP_054182110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,629,227 - 34,377,802 (-)NCBI
RefSeq Acc Id: XM_054326136   ⟹   XP_054182111
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,737,382 - 34,042,112 (-)NCBI
RefSeq Acc Id: XM_054326137   ⟹   XP_054182112
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,737,382 - 33,824,655 (-)NCBI
RefSeq Acc Id: XM_054326138   ⟹   XP_054182113
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,824,661 - 34,377,802 (-)NCBI
RefSeq Acc Id: XR_002958722
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,162,228 - 33,920,476 (-)NCBI
Sequence:
RefSeq Acc Id: XR_007067993
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,066,663 - 33,920,476 (-)NCBI
RefSeq Acc Id: XR_007067994
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,162,228 - 33,920,476 (-)NCBI
RefSeq Acc Id: XR_008485435
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,627,097 - 34,377,802 (-)NCBI
RefSeq Acc Id: XR_008485436
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02233,627,091 - 34,377,802 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001349878 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349880 (Get FASTA)   NCBI Sequence Viewer  
  NP_001349882 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365554 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365555 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365556 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365557 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365558 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365559 (Get FASTA)   NCBI Sequence Viewer  
  NP_001365560 (Get FASTA)   NCBI Sequence Viewer  
  NP_004728 (Get FASTA)   NCBI Sequence Viewer  
  NP_598397 (Get FASTA)   NCBI Sequence Viewer  
  XP_011528815 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308070 (Get FASTA)   NCBI Sequence Viewer  
  XP_024308071 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297555 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297556 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297557 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297558 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297559 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297560 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297561 (Get FASTA)   NCBI Sequence Viewer  
  XP_047297562 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182110 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182111 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182112 (Get FASTA)   NCBI Sequence Viewer  
  XP_054182113 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAI17426 (Get FASTA)   NCBI Sequence Viewer  
  AAI26405 (Get FASTA)   NCBI Sequence Viewer  
  AHW56517 (Get FASTA)   NCBI Sequence Viewer  
  AHW56672 (Get FASTA)   NCBI Sequence Viewer  
  AHW56712 (Get FASTA)   NCBI Sequence Viewer  
  AHW56713 (Get FASTA)   NCBI Sequence Viewer  
  BAA25535 (Get FASTA)   NCBI Sequence Viewer  
  BAH11875 (Get FASTA)   NCBI Sequence Viewer  
  BAH12135 (Get FASTA)   NCBI Sequence Viewer  
  BAH13559 (Get FASTA)   NCBI Sequence Viewer  
  CAA07571 (Get FASTA)   NCBI Sequence Viewer  
  CAG30396 (Get FASTA)   NCBI Sequence Viewer  
  CAI17890 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09433 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09434 (Get FASTA)   NCBI Sequence Viewer  
  CAQ09435 (Get FASTA)   NCBI Sequence Viewer  
  CAX15214 (Get FASTA)   NCBI Sequence Viewer  
  CAX15215 (Get FASTA)   NCBI Sequence Viewer  
  EAW60041 (Get FASTA)   NCBI Sequence Viewer  
  EAW60042 (Get FASTA)   NCBI Sequence Viewer  
  EAW60043 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000347088
  ENSP00000347088.2
  ENSP00000380549
  ENSP00000380549.2
  ENSP00000385223
  ENSP00000385223.1
  ENSP00000389605.2
  ENSP00000396277.3
  ENSP00000403841.2
  ENSP00000406000
  ENSP00000406000.2
  ENSP00000411065.2
  ENSP00000415546
  ENSP00000415546.2
  ENSP00000476364
  ENSP00000476364.2
  ENSP00000476415.2
  ENSP00000476866.2
  ENSP00000501590.1
  ENSP00000501663.1
  ENSP00000501800
  ENSP00000501800.1
  ENSP00000501854
  ENSP00000501854.1
  ENSP00000501941
  ENSP00000501941.1
  ENSP00000501966.1
  ENSP00000502006.1
  ENSP00000502103.1
  ENSP00000502152
  ENSP00000502152.1
  ENSP00000502238
  ENSP00000502238.1
  ENSP00000502702.1
  ENSP00000502711.1
  ENSP00000502772
  ENSP00000502772.1
  ENSP00000502826.1
GenBank Protein O95461 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_598397   ⟸   NM_133642
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004728   ⟸   NM_004737
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528815   ⟸   XM_011530513
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_024308070   ⟸   XM_024452302
- Peptide Label: isoform X2
- UniProtKB: V9GY39 (UniProtKB/TrEMBL),   V9GYK8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024308071   ⟸   XM_024452303
- Peptide Label: isoform X7
- UniProtKB: B0QYZ9 (UniProtKB/TrEMBL),   B0QZ00 (UniProtKB/TrEMBL),   B0QZ01 (UniProtKB/TrEMBL),   B0QZ02 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001349882   ⟸   NM_001362953
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349878   ⟸   NM_001362949
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001349880   ⟸   NM_001362951
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365556   ⟸   NM_001378627
- Peptide Label: isoform 2
- UniProtKB: A0A6Q8PFT0 (UniProtKB/TrEMBL),   B7Z2I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365553   ⟸   NM_001378624
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365558   ⟸   NM_001378629
- Peptide Label: isoform 3
- UniProtKB: A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365557   ⟸   NM_001378628
- Peptide Label: isoform 2
- UniProtKB: A0A6Q8PFT0 (UniProtKB/TrEMBL),   B7Z2I9 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365555   ⟸   NM_001378626
- Peptide Label: isoform 1
- UniProtKB: Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365554   ⟸   NM_001378625
- Peptide Label: isoform 1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL),   A0A6Q8PG57 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365560   ⟸   NM_001378631
- Peptide Label: isoform 5
- UniProtKB: B7Z7C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001365559   ⟸   NM_001378630
- Peptide Label: isoform 4
- UniProtKB: A0A6Q8PHK1 (UniProtKB/TrEMBL),   B7Z7C3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000406000   ⟸   ENST00000423375
Ensembl Acc Id: ENSP00000476415   ⟸   ENST00000609799
Ensembl Acc Id: ENSP00000415546   ⟸   ENST00000413114
Ensembl Acc Id: ENSP00000476364   ⟸   ENST00000610186
Ensembl Acc Id: ENSP00000385223   ⟸   ENST00000402320
Ensembl Acc Id: ENSP00000396277   ⟸   ENST00000430220
Ensembl Acc Id: ENSP00000411065   ⟸   ENST00000432776
Ensembl Acc Id: ENSP00000347088   ⟸   ENST00000354992
Ensembl Acc Id: ENSP00000389605   ⟸   ENST00000434071
Ensembl Acc Id: ENSP00000403841   ⟸   ENST00000421768
Ensembl Acc Id: ENSP00000380549   ⟸   ENST00000397394
Ensembl Acc Id: ENSP00000476866   ⟸   ENST00000608642
Ensembl Acc Id: ENSP00000502711   ⟸   ENST00000674999
Ensembl Acc Id: ENSP00000502772   ⟸   ENST00000674780
Ensembl Acc Id: ENSP00000501941   ⟸   ENST00000674789
Ensembl Acc Id: ENSP00000502103   ⟸   ENST00000674668
Ensembl Acc Id: ENSP00000501590   ⟸   ENST00000674543
Ensembl Acc Id: ENSP00000502826   ⟸   ENST00000675416
Ensembl Acc Id: ENSP00000501800   ⟸   ENST00000675382
Ensembl Acc Id: ENSP00000502702   ⟸   ENST00000675277
Ensembl Acc Id: ENSP00000501966   ⟸   ENST00000676126
Ensembl Acc Id: ENSP00000501854   ⟸   ENST00000676132
Ensembl Acc Id: ENSP00000502152   ⟸   ENST00000676070
Ensembl Acc Id: ENSP00000501663   ⟸   ENST00000676031
Ensembl Acc Id: ENSP00000502238   ⟸   ENST00000676370
RefSeq Acc Id: XP_047297562   ⟸   XM_047441606
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047297556   ⟸   XM_047441600
- Peptide Label: isoform X1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   A0A6Q8PG57 (UniProtKB/TrEMBL),   X5DR28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297558   ⟸   XM_047441602
- Peptide Label: isoform X1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   A0A6Q8PG57 (UniProtKB/TrEMBL),   X5DR28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297555   ⟸   XM_047441599
- Peptide Label: isoform X1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   A0A6Q8PG57 (UniProtKB/TrEMBL),   X5DR28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297557   ⟸   XM_047441601
- Peptide Label: isoform X1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   A0A6Q8PG57 (UniProtKB/TrEMBL),   X5DR28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297559   ⟸   XM_047441603
- Peptide Label: isoform X3
- UniProtKB: B7Z7C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297560   ⟸   XM_047441604
- Peptide Label: isoform X4
- UniProtKB: X5DRG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047297561   ⟸   XM_047441605
- Peptide Label: isoform X4
- UniProtKB: X5DRG1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182110   ⟸   XM_054326135
- Peptide Label: isoform X2
- UniProtKB: V9GYK8 (UniProtKB/TrEMBL),   V9GY39 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182108   ⟸   XM_054326133
- Peptide Label: isoform X1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   A0A6Q8PG57 (UniProtKB/TrEMBL),   X5DR28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182109   ⟸   XM_054326134
- Peptide Label: isoform X1
- UniProtKB: Q9UGZ8 (UniProtKB/Swiss-Prot),   Q9UGG3 (UniProtKB/Swiss-Prot),   Q9UGE7 (UniProtKB/Swiss-Prot),   Q9UGD1 (UniProtKB/Swiss-Prot),   Q17R80 (UniProtKB/Swiss-Prot),   O95461 (UniProtKB/Swiss-Prot),   O60348 (UniProtKB/Swiss-Prot),   B0QXZ7 (UniProtKB/Swiss-Prot),   Q9UH22 (UniProtKB/Swiss-Prot),   A0A6Q8PG57 (UniProtKB/TrEMBL),   X5DR28 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182111   ⟸   XM_054326136
- Peptide Label: isoform X3
- UniProtKB: B7Z7C3 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054182112   ⟸   XM_054326137
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054182113   ⟸   XM_054326138
- Peptide Label: isoform X7
- UniProtKB: B0QYZ9 (UniProtKB/TrEMBL),   B0QZ00 (UniProtKB/TrEMBL),   B0QZ01 (UniProtKB/TrEMBL),   B0QZ02 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95461-F1-model_v2 AlphaFold O95461 1-756 view protein structure

Promoters
RGD ID:6800080
Promoter ID:HG_KWN:42519
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000320575
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,291,531 - 32,292,031 (-)MPROMDB
RGD ID:6800077
Promoter ID:HG_KWN:42527
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000320566
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,615,704 - 32,616,204 (-)MPROMDB
RGD ID:6799906
Promoter ID:HG_KWN:42528
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000337431,   ENST00000354992,   NM_133642,   UC010GWP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 362232,646,101 - 32,647,322 (-)MPROMDB
RGD ID:13603838
Promoter ID:EPDNEW_H28104
Type:single initiation site
Name:LARGE_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28105  EPDNEW_H28106  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,801,381 - 33,801,441EPDNEW
RGD ID:13603842
Promoter ID:EPDNEW_H28105
Type:initiation region
Name:LARGE_3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28104  EPDNEW_H28106  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,920,467 - 33,920,527EPDNEW
RGD ID:13603844
Promoter ID:EPDNEW_H28106
Type:initiation region
Name:LARGE_2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H28104  EPDNEW_H28105  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,922,907 - 33,922,967EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6511 AgrOrtholog
COSMIC LARGE1 COSMIC
Ensembl Genes ENSG00000133424 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000354992 ENTREZGENE
  ENST00000354992.7 UniProtKB/Swiss-Prot
  ENST00000397394 ENTREZGENE
  ENST00000397394.8 UniProtKB/Swiss-Prot
  ENST00000402320 ENTREZGENE
  ENST00000402320.6 UniProtKB/Swiss-Prot
  ENST00000413114 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000413114.6 UniProtKB/Swiss-Prot
  ENST00000421768.2 UniProtKB/TrEMBL
  ENST00000423375 ENTREZGENE
  ENST00000423375.2 UniProtKB/TrEMBL
  ENST00000430220.7 UniProtKB/TrEMBL
  ENST00000432776.6 UniProtKB/TrEMBL
  ENST00000434071.6 UniProtKB/TrEMBL
  ENST00000476315.2 UniProtKB/TrEMBL
  ENST00000608642.6 UniProtKB/TrEMBL
  ENST00000609799.6 UniProtKB/TrEMBL
  ENST00000610186 ENTREZGENE
  ENST00000610186.6 UniProtKB/TrEMBL
  ENST00000674543.1 UniProtKB/TrEMBL
  ENST00000674668.1 UniProtKB/TrEMBL
  ENST00000674780 ENTREZGENE
  ENST00000674780.1 UniProtKB/TrEMBL
  ENST00000674789 ENTREZGENE
  ENST00000674789.1 UniProtKB/TrEMBL
  ENST00000674999.1 UniProtKB/TrEMBL
  ENST00000675277.1 UniProtKB/TrEMBL
  ENST00000675382 ENTREZGENE
  ENST00000675382.1 UniProtKB/TrEMBL
  ENST00000675416.1 UniProtKB/Swiss-Prot
  ENST00000676031.1 UniProtKB/TrEMBL
  ENST00000676070 ENTREZGENE
  ENST00000676070.1 UniProtKB/Swiss-Prot
  ENST00000676126.1 UniProtKB/TrEMBL
  ENST00000676132 ENTREZGENE
  ENST00000676132.1 UniProtKB/Swiss-Prot
  ENST00000676370 ENTREZGENE
  ENST00000676370.1 UniProtKB/Swiss-Prot
Gene3D-CATH Spore Coat Polysaccharide Biosynthesis Protein SpsA, Chain A UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000133424 GTEx
HGNC ID HGNC:6511 ENTREZGENE
Human Proteome Map LARGE1 Human Proteome Map
InterPro Glyco_trans_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-diphossugar_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Xyl/GlcA_transferase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9215 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9215 ENTREZGENE
OMIM 603590 OMIM
PANTHER GLYCOSYLTRANSFERASE-RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LARGE XYLOSYL- AND GLUCURONYLTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_49 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_transf_8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30296 PharmGKB
Superfamily-SCOP SSF53448 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A6Q8PF10_HUMAN UniProtKB/TrEMBL
  A0A6Q8PF85_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFT0 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PFW0_HUMAN UniProtKB/TrEMBL
  A0A6Q8PFY8_HUMAN UniProtKB/TrEMBL
  A0A6Q8PG57 ENTREZGENE, UniProtKB/TrEMBL
  A0A6Q8PHF1_HUMAN UniProtKB/TrEMBL
  A0A6Q8PHK1 ENTREZGENE, UniProtKB/TrEMBL
  B0QXZ7 ENTREZGENE
  B0QY08_HUMAN UniProtKB/TrEMBL
  B0QYZ8_HUMAN UniProtKB/TrEMBL
  B0QYZ9 ENTREZGENE, UniProtKB/TrEMBL
  B0QZ00 ENTREZGENE
  B0QZ01 ENTREZGENE
  B0QZ02 ENTREZGENE
  B7Z2I9 ENTREZGENE, UniProtKB/TrEMBL
  B7Z7C3 ENTREZGENE, UniProtKB/TrEMBL
  LARG1_HUMAN UniProtKB/Swiss-Prot
  O60348 ENTREZGENE
  O95461 ENTREZGENE
  Q17R80 ENTREZGENE
  Q9UGD1 ENTREZGENE
  Q9UGE7 ENTREZGENE
  Q9UGG3 ENTREZGENE
  Q9UGZ8 ENTREZGENE
  Q9UH22 ENTREZGENE
  V9GY39 ENTREZGENE, UniProtKB/TrEMBL
  V9GY56_HUMAN UniProtKB/TrEMBL
  V9GYK8 ENTREZGENE, UniProtKB/TrEMBL
  X5DR28 ENTREZGENE, UniProtKB/TrEMBL
  X5DRG1 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B0QXZ7 UniProtKB/Swiss-Prot
  B0QZ00 UniProtKB/TrEMBL
  B0QZ01 UniProtKB/TrEMBL
  B0QZ02 UniProtKB/TrEMBL
  O60348 UniProtKB/Swiss-Prot
  Q17R80 UniProtKB/Swiss-Prot
  Q9UGD1 UniProtKB/Swiss-Prot
  Q9UGE7 UniProtKB/Swiss-Prot
  Q9UGG3 UniProtKB/Swiss-Prot
  Q9UGZ8 UniProtKB/Swiss-Prot
  Q9UH22 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-07 LARGE1  LARGE xylosyl- and glucuronyltransferase 1  LARGE  like-glycosyltransferase  Symbol and/or name change 5135510 APPROVED