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
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
Also known as: acetylglucosaminyltransferase-like 1A; acetylglucosaminyltransferase-like protein; glycosyltransferase-like protein LARGE1; KIAA0609; LARGE; like-acetylglucosaminyltransferase; like-glycosyltransferase; MDC1D; MDDGA6; MDDGB6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2233,162,226 - 33,922,841 (-)EnsemblGRCh38hg38GRCh38
GRCh382233,162,237 - 33,922,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372233,668,495 - 34,318,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362231,999,063 - 32,646,410 (-)NCBINCBI36hg18NCBI36
Build 342231,993,616 - 32,640,964NCBI
Celera2217,471,158 - 18,118,297 (-)NCBI
Cytogenetic Map22q12.3NCBI
HuRef2216,626,665 - 17,273,268 (-)NCBIHuRef
CHM1_12233,628,484 - 34,276,127 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal aldolase level  (IAGP)
Abnormal circulating creatine kinase concentration  (IAGP)
Abnormal lactate dehydrogenase level  (IAGP)
Abnormal periventricular white matter morphology  (IAGP)
Abnormal pons morphology  (IAGP)
Abnormality of neuronal migration  (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/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)
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 muscular dystrophy  (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)
EEG abnormality  (IAGP)
Elbow flexion contracture  (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)
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)
Limb-girdle muscle weakness  (IAGP)
Loss of ability to walk  (IAGP)
Low-set ears  (IAGP)
Lower limb hyperreflexia  (IAGP)
Macrocephaly  (IAGP)
Macroglossia  (IAGP)
Macrogyria  (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)
Neurological speech impairment  (IAGP)
Occipital encephalocele  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Peters anomaly  (IAGP)
Pigmentary retinopathy  (IAGP)
Polymicrogyria  (IAGP)
Poor gross motor coordination  (IAGP)
Poor speech  (IAGP)
Posterior fossa cyst  (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)
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)
Sloping forehead  (IAGP)
Specific learning disability  (IAGP)
Spinal deformities  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Type II lissencephaly  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
References

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: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:33588034   PMID:33961781  


Genomics

Comparative Map Data
LARGE1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl2233,162,226 - 33,922,841 (-)EnsemblGRCh38hg38GRCh38
GRCh382233,162,237 - 33,922,824 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh372233,668,495 - 34,318,812 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362231,999,063 - 32,646,410 (-)NCBINCBI36hg18NCBI36
Build 342231,993,616 - 32,640,964NCBI
Celera2217,471,158 - 18,118,297 (-)NCBI
Cytogenetic Map22q12.3NCBI
HuRef2216,626,665 - 17,273,268 (-)NCBIHuRef
CHM1_12233,628,484 - 34,276,127 (-)NCBICHM1_1
Large1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39873,541,226 - 74,080,279 (-)NCBIGRCm39mm39
GRCm39 Ensembl873,541,227 - 74,080,168 (-)Ensembl
GRCm38872,814,598 - 73,353,721 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl872,814,599 - 73,353,540 (-)EnsemblGRCm38mm10GRCm38
MGSCv37875,338,498 - 75,876,455 (-)NCBIGRCm37mm9NCBIm37
MGSCv36875,710,671 - 76,248,628 (-)NCBImm8
Celera877,131,292 - 77,664,765 (-)NCBICelera
Cytogenetic Map8B3.3NCBI
cM Map835.08NCBI
Large1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21911,603,129 - 12,048,930 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl1911,603,129 - 12,048,930 (-)Ensembl
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 (-)NCBIRGSC3.4rn4RGSC3.4
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
ChiLan1.0NW_00495540541,891,430 - 42,225,066 (-)NCBIChiLan1.0ChiLan1.0
LARGE1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.12232,137,280 - 32,778,639 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v02214,077,463 - 14,929,250 (-)NCBIMhudiblu_PPA_v0panPan3
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 (+)NCBI
ROS_Cfam_1.01030,671,995 - 31,198,842 (+)NCBI
UMICH_Zoey_3.11030,391,521 - 30,940,790 (+)NCBI
UNSW_CanFamBas_1.01030,706,807 - 31,228,831 (+)NCBI
UU_Cfam_GSD_1.01030,887,220 - 31,413,494 (+)NCBI
Large1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494513,148,086 - 13,647,077 (+)NCBI
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 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1916,080,430 - 16,549,495 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_023666045109,305,163 - 109,923,917 (+)NCBIVero_WHO_p1.0
Large1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247501,190,712 - 1,524,051 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
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

miRNA Target Status

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.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1096 1338 56 20 220 20 2009 1249 1306 54 615 74 1 248 1539
Low 1325 987 1655 598 921 437 2341 912 2386 360 791 1478 166 956 1249 5
Below cutoff 11 658 12 4 771 6 5 31 21 4 48 54 5

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
  XR_002958722 (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
  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
  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
  Z97354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000354992   ⟹   ENSP00000347088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,920,421 (-)Ensembl
RefSeq Acc Id: ENST00000397394   ⟹   ENSP00000380549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,272,509 - 33,920,476 (-)Ensembl
RefSeq Acc Id: ENST00000402320   ⟹   ENSP00000385223
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,920,414 (-)Ensembl
RefSeq Acc Id: ENST00000413114   ⟹   ENSP00000415546
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,922,841 (-)Ensembl
RefSeq Acc Id: ENST00000421232
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,166,387 - 33,221,751 (-)Ensembl
RefSeq Acc Id: ENST00000421768   ⟹   ENSP00000403841
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,316,085 - 33,572,262 (-)Ensembl
RefSeq Acc Id: ENST00000423375   ⟹   ENSP00000406000
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,381,919 - 33,873,387 (-)Ensembl
RefSeq Acc Id: ENST00000430220   ⟹   ENSP00000396277
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,381,919 - 33,861,624 (-)Ensembl
RefSeq Acc Id: ENST00000432776   ⟹   ENSP00000411065
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,381,919 - 33,873,405 (-)Ensembl
RefSeq Acc Id: ENST00000434071   ⟹   ENSP00000389605
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,381,919 - 33,889,228 (-)Ensembl
RefSeq Acc Id: ENST00000462606
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,650,375 - 33,657,216 (-)Ensembl
RefSeq Acc Id: ENST00000476315
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,562,912 - 33,761,476 (-)Ensembl
RefSeq Acc Id: ENST00000494763
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,650,440 - 33,922,596 (-)Ensembl
RefSeq Acc Id: ENST00000608642   ⟹   ENSP00000476866
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,162,226 - 33,761,476 (-)Ensembl
RefSeq Acc Id: ENST00000609799   ⟹   ENSP00000476415
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,162,226 - 33,761,476 (-)Ensembl
RefSeq Acc Id: ENST00000610186   ⟹   ENSP00000476364
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,162,226 - 33,761,476 (-)Ensembl
RefSeq Acc Id: ENST00000674543   ⟹   ENSP00000501590
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,922,829 (-)Ensembl
RefSeq Acc Id: ENST00000674562
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,162,226 - 33,221,746 (-)Ensembl
RefSeq Acc Id: ENST00000674668   ⟹   ENSP00000502103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
RefSeq Acc Id: ENST00000674708
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,604,707 (-)Ensembl
RefSeq Acc Id: ENST00000674780   ⟹   ENSP00000502772
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,572,253 (-)Ensembl
RefSeq Acc Id: ENST00000674789   ⟹   ENSP00000501941
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,274,220 - 33,922,596 (-)Ensembl
RefSeq Acc Id: ENST00000674816
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,438,567 (-)Ensembl
RefSeq Acc Id: ENST00000674999   ⟹   ENSP00000502711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,657,216 (-)Ensembl
RefSeq Acc Id: ENST00000675031
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,604,232 - 33,626,328 (-)Ensembl
RefSeq Acc Id: ENST00000675277   ⟹   ENSP00000502702
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,274,385 - 33,922,561 (-)Ensembl
RefSeq Acc Id: ENST00000675382   ⟹   ENSP00000501800
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
RefSeq Acc Id: ENST00000675416   ⟹   ENSP00000502826
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,880,672 (-)Ensembl
RefSeq Acc Id: ENST00000676031   ⟹   ENSP00000501663
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
RefSeq Acc Id: ENST00000676070   ⟹   ENSP00000502152
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,922,829 (-)Ensembl
RefSeq Acc Id: ENST00000676126   ⟹   ENSP00000501966
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,761,558 (-)Ensembl
RefSeq Acc Id: ENST00000676132   ⟹   ENSP00000501854
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,273,077 - 33,861,611 (-)Ensembl
RefSeq Acc Id: ENST00000676217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl2233,162,226 - 33,210,828 (-)Ensembl
RefSeq Acc Id: ENST00000676370   ⟹   ENSP00000502238
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 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
RefSeq Acc Id: NM_001362951   ⟹   NP_001349880
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,563 (-)NCBI
RefSeq Acc Id: NM_001362953   ⟹   NP_001349882
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,824 (-)NCBI
RefSeq Acc Id: NM_001378624   ⟹   NP_001365553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,563 (-)NCBI
RefSeq Acc Id: NM_001378625   ⟹   NP_001365554
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,873,329 (-)NCBI
RefSeq Acc Id: NM_001378626   ⟹   NP_001365555
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,873,329 (-)NCBI
RefSeq Acc Id: NM_001378627   ⟹   NP_001365556
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,922,563 (-)NCBI
RefSeq Acc Id: NM_001378628   ⟹   NP_001365557
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
RefSeq Acc Id: NM_001378629   ⟹   NP_001365558
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,920,476 (-)NCBI
RefSeq Acc Id: NM_001378630   ⟹   NP_001365559
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,572,262 (-)NCBI
RefSeq Acc Id: NM_001378631   ⟹   NP_001365560
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,272,509 - 33,572,262 (-)NCBI
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
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
Sequence:
RefSeq Acc Id: XM_011530513   ⟹   XP_011528815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,273,084 - 33,359,546 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452302   ⟹   XP_024308070
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,164,367 - 33,761,523 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024452303   ⟹   XP_024308071
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,364,352 - 33,761,523 (-)NCBI
Sequence:
RefSeq Acc Id: XR_002958722
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382233,162,237 - 33,761,523 (-)NCBI
Sequence:
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  
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  
  O95461 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_598397   ⟸   NM_133642
- Peptide Label: isoform 1
- UniProtKB: O95461 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_004728   ⟸   NM_004737
- Peptide Label: isoform 1
- UniProtKB: O95461 (UniProtKB/Swiss-Prot),   X5DR28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011528815   ⟸   XM_011530513
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: XP_024308070   ⟸   XM_024452302
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_024308071   ⟸   XM_024452303
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001349882   ⟸   NM_001362953
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001349878   ⟸   NM_001362949
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001349880   ⟸   NM_001362951
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365556   ⟸   NM_001378627
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001365553   ⟸   NM_001378624
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365558   ⟸   NM_001378629
- Peptide Label: isoform 3
RefSeq Acc Id: NP_001365557   ⟸   NM_001378628
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001365555   ⟸   NM_001378626
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365554   ⟸   NM_001378625
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001365560   ⟸   NM_001378631
- Peptide Label: isoform 5
RefSeq Acc Id: NP_001365559   ⟸   NM_001378630
- Peptide Label: isoform 4
RefSeq Acc Id: ENSP00000406000   ⟸   ENST00000423375
RefSeq Acc Id: ENSP00000476415   ⟸   ENST00000609799
RefSeq Acc Id: ENSP00000415546   ⟸   ENST00000413114
RefSeq Acc Id: ENSP00000476364   ⟸   ENST00000610186
RefSeq Acc Id: ENSP00000385223   ⟸   ENST00000402320
RefSeq Acc Id: ENSP00000396277   ⟸   ENST00000430220
RefSeq Acc Id: ENSP00000411065   ⟸   ENST00000432776
RefSeq Acc Id: ENSP00000347088   ⟸   ENST00000354992
RefSeq Acc Id: ENSP00000389605   ⟸   ENST00000434071
RefSeq Acc Id: ENSP00000403841   ⟸   ENST00000421768
RefSeq Acc Id: ENSP00000380549   ⟸   ENST00000397394
RefSeq Acc Id: ENSP00000476866   ⟸   ENST00000608642
RefSeq Acc Id: ENSP00000502711   ⟸   ENST00000674999
RefSeq Acc Id: ENSP00000502772   ⟸   ENST00000674780
RefSeq Acc Id: ENSP00000501941   ⟸   ENST00000674789
RefSeq Acc Id: ENSP00000502103   ⟸   ENST00000674668
RefSeq Acc Id: ENSP00000501590   ⟸   ENST00000674543
RefSeq Acc Id: ENSP00000502826   ⟸   ENST00000675416
RefSeq Acc Id: ENSP00000501800   ⟸   ENST00000675382
RefSeq Acc Id: ENSP00000502702   ⟸   ENST00000675277
RefSeq Acc Id: ENSP00000501966   ⟸   ENST00000676126
RefSeq Acc Id: ENSP00000501854   ⟸   ENST00000676132
RefSeq Acc Id: ENSP00000502152   ⟸   ENST00000676070
RefSeq Acc Id: ENSP00000501663   ⟸   ENST00000676031
RefSeq Acc Id: ENSP00000502238   ⟸   ENST00000676370

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

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004737.6(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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000545614]|not provided [RCV000997912] Chr22:33604557 [GRCh38]
Chr22:34000543 [GRCh37]
Chr22:22q12.3
uncertain significance
LARGE1, 42.9-KB INS/4.1-KB DEL indel Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000023313] Chr22:22q12.3-q13.1 pathogenic
NM_133642.5(LARGE1):c.1525G>A (p.Glu509Lys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000006594] Chr22:33304434 [GRCh38]
Chr22:33700420 [GRCh37]
Chr22:22q12.3
pathogenic
LARGE1, 1-BP INS, 1999T insertion Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000006595] Chr22:22q12.3-q13.1 pathogenic
LARGE1, 63-KB DEL deletion Congenital muscular dystrophy-dystroglycanopathy 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000006597] Chr22:33304476 [GRCh38]
Chr22:33700462 [GRCh37]
Chr22:22q12.3
pathogenic
LARGE1, GLN87FS variation Congenital muscular dystrophy-dystroglycanopathy 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000006599] Chr22:33384205 [GRCh38]
Chr22:33780191 [GRCh37]
Chr22:22q12.3
pathogenic
LARGE1, 667FS variation Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000006600] Chr22:22q12.3-q13.1 pathogenic
NM_133642.5(LARGE1):c.188A>G (p.Glu63Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001143857]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145530]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640137] Chr22:33604466 [GRCh38]
Chr22:34000452 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004737.6(LARGE1):c.1380C>T (p.Phe460=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640139] Chr22:33316156 [GRCh38]
Chr22:33712142 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.336G>A (p.Glu112=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000547514] 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 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_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000298606]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 not provided [RCV000081167] Chr22:33381934 [GRCh38]
Chr22:33777920 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.118G>A (p.Val40Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001300244]|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 not provided [RCV000081169] Chr22:33337635 [GRCh38]
Chr22:33733621 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148299]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000540677]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000764383]|not provided [RCV000710157]|not specified [RCV000192984] Chr22:33316116 [GRCh38]
Chr22:33712102 [GRCh37]
Chr22:22q12.3
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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000329680]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001147368]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000269136]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000560113]|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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000268037]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000398032]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000351281]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000525859]|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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000283898]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000320123]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000544713]|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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000373679]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000306958]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000534681]|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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000376540]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000321834]|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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001331296] Chr22:33274470 [GRCh38]
Chr22:33670456 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000358052]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000395015]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000402642]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000559185]|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 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000379599]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000555307]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000765632]|Muscular dystrophy [RCV000146258]|not provided [RCV000710160] Chr22:33650564 [GRCh38]
Chr22:34046550 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.552G>A (p.Thr184=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000331813]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000558587]|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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000873746]|Muscular dystrophy [RCV000146261]|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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000328489]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001082074]|not provided [RCV000723745] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001147371]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000549021] Chr22:33384273 [GRCh38]
Chr22:33780259 [GRCh37]
Chr22:22q12.3
benign
NM_133642.5(LARGE1):c.2087T>C (p.Ile696Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000549850] Chr22:33274611 [GRCh38]
Chr22:33670597 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.1893G>A (p.Thr631=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000340869]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 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 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 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_018325.5(C9orf72):c.870C>T (p.Ser290=) 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000344970]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000388995]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000294676]|not provided [RCV001555777] Chr22:33316216 [GRCh38]
Chr22:33712202 [GRCh37]
Chr22:22q12.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004737.6(LARGE1):c.*849C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000329750]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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_004737.6(LARGE1):c.-462A>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000280300]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145529]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000259275]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000316887] Chr22:33273948 [GRCh38]
Chr22:33669934 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.*740A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000344623]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000360485]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000371003]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000792829]|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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000394208]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000394175]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000314409] Chr22:33273847 [GRCh38]
Chr22:33669833 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.*798G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000342009]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000279989] Chr22:33273629 [GRCh38]
Chr22:33669615 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.-406C>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000327982]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000350180]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000405750]|not specified [RCV000501820] Chr22:33274490 [GRCh38]
Chr22:33670476 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-455G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000281487]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000404821] Chr22:33920367 [GRCh38]
Chr22:34316355 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.*207G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000320439]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000307401]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000380209]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000371148]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000287982]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000382390] Chr22:33856811 [GRCh38]
Chr22:34252799 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000289988]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000290591]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000380970] Chr22:33274327 [GRCh38]
Chr22:33670313 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.-460C>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000388507]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000334008] Chr22:33920309 [GRCh38]
Chr22:34316297 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_182914.3(SYNE2):c.12109-10_12109-7del single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000348231]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000293351]|not provided [RCV001643042] Chr22:33920089 [GRCh38]
Chr22:34316077 [GRCh37]
Chr22:22q12.3
benign
NM_004737.6(LARGE1):c.*1235A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000336013]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000402467]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000265950]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000367835]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000398023]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000297532] Chr22:33277049 [GRCh38]
Chr22:33673035 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1776G>T (p.Met592Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001147367]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000267101]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000361640] Chr22:33920199 [GRCh38]
Chr22:34316187 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.*455C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000378363]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000267556] Chr22:33273972 [GRCh38]
Chr22:33669958 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.*833A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000261820]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000386694] Chr22:33273594 [GRCh38]
Chr22:33669580 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-271G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000355525]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000300721] Chr22:33920183 [GRCh38]
Chr22:34316171 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-149G>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000383458]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000363377]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000267808]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000365682]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000268769] Chr22:33273506 [GRCh38]
Chr22:33669492 [GRCh37]
Chr22:22q12.3
benign|likely benign
NM_133642.5(LARGE1):c.*1201A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000305400]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000387445]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000293093] Chr22:33920271 [GRCh38]
Chr22:34316259 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.-310T>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000398230]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000335575] Chr22:33920159 [GRCh38]
Chr22:34316147 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000309022]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000395091] Chr22:33273429 [GRCh38]
Chr22:33669415 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-480C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000338975]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000404545] Chr22:33920392 [GRCh38]
Chr22:34316380 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000381278]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000326678] Chr22:33920204 [GRCh38]
Chr22:34316192 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-242C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000406482]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000313353] Chr22:33920154 [GRCh38]
Chr22:34316142 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.*499G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000313146]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV000585698] Chr22:33650492 [GRCh38]
Chr22:34046478 [GRCh37]
Chr22:22q12.3
pathogenic
NM_004737.6(LARGE1):c.897G>C (p.Val299=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640142] Chr22:33384300 [GRCh38]
Chr22:33780286 [GRCh37]
Chr22:22q12.3
benign
NM_004737.6(LARGE1):c.478G>A (p.Val160Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640131] Chr22:33626257 [GRCh38]
Chr22:34022241 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1080G>A (p.Leu360=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001406873]|not provided [RCV000640141] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001393538]|not provided [RCV000527872] Chr22:33381952 [GRCh38]
Chr22:33777938 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1839G>T (p.Leu613Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001428205]|not provided [RCV000874658]|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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148522]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 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 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 not provided [RCV000478800] Chr22:33316193 [GRCh38]
Chr22:33712179 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.861A>G (p.Pro287=) single nucleotide variant not specified [RCV000503715] Chr22:33432192 [GRCh38]
Chr22:33828178 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.607G>A (p.Glu203Lys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001425130]|not provided [RCV000535959] Chr22:33384293 [GRCh38]
Chr22:33780279 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1288C>G (p.Leu430Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000552813] Chr22:33316248 [GRCh38]
Chr22:33712234 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.1225G>A (p.Gly409Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000540326] Chr22:33337704 [GRCh38]
Chr22:33733690 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.534G>C (p.Ala178=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640134] Chr22:33604516 [GRCh38]
Chr22:34000502 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.74C>T (p.Thr25Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 not provided [RCV001697407] Chr22:33381994 [GRCh38]
Chr22:33777980 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.1614C>T (p.Gly538=) single nucleotide variant 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145430]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001145431]|not provided [RCV001719076] Chr22:33277266 [GRCh38]
Chr22:33673252 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.34T>C (p.Leu12=) single nucleotide variant not specified [RCV000612070] Chr22:33761443 [GRCh38]
Chr22:34157430 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.940C>G (p.Gln314Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640130] Chr22:33384257 [GRCh38]
Chr22:33780243 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(LARGE1):c.1464G>A (p.Leu488=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640135] Chr22:33304495 [GRCh38]
Chr22:33700481 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.1416G>A (p.Thr472=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000640136] 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 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000685575] Chr22:33384255 [GRCh38]
Chr22:33780241 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1033_1034dup (p.Asn345fs) duplication Congenital muscular dystrophy-dystroglycanopathy 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000701837] Chr22:33626317 [GRCh38]
Chr22:34022301 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.796G>C (p.Val266Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000691110] Chr22:33432257 [GRCh38]
Chr22:33828243 [GRCh37]
Chr22:22q12.3
uncertain significance
NC_000022.11:g.(?_33761351)_(33761496_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000703811] Chr22:33277118 [GRCh38]
Chr22:33673104 [GRCh37]
Chr22:22q12.3
uncertain significance
NC_000022.10:g.(?_34022208)_(34157483_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000708506] Chr22:34022208..34157483 [GRCh37]
Chr22:22q12.3
pathogenic
NM_133642.5(LARGE1):c.1132-3C>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001332509]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000703140]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000764384] 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
null microsatellite not provided [RCV001665819] Chr22:33432563..33432566 [GRCh38]
Chr22:33828549..33828552 [GRCh37]
Chr22:22q12.3
benign
null insertion not provided [RCV001691576] Chr22:33432595..33432596 [GRCh38]
Chr22:33828581..33828582 [GRCh37]
Chr22:22q12.3
benign
NM_000085.5(CLCNKB):c.101-50G>C 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145755]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000875516] Chr22:33761432 [GRCh38]
Chr22:34157419 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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
null 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001426957]|not provided [RCV000981642] Chr22:33564984 [GRCh38]
Chr22:33960970 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1020C>T (p.Ala340=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001434938]|not provided [RCV000973766] Chr22:33382030 [GRCh38]
Chr22:33778016 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.36G>A (p.Leu12=) single nucleotide variant not provided [RCV000899107] Chr22:33761441 [GRCh38]
Chr22:34157428 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1521C>T (p.Asp507=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001483799]|not provided [RCV000920573] Chr22:33304438 [GRCh38]
Chr22:33700424 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.606C>T (p.Asp202=) single nucleotide variant not provided [RCV000877668] Chr22:33604444 [GRCh38]
Chr22:34000430 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.2136C>T (p.Phe712=) single nucleotide variant not provided [RCV000882924] Chr22:33274562 [GRCh38]
Chr22:33670548 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.393C>G (p.Val131=) single nucleotide variant not provided [RCV000902213] Chr22:33650382 [GRCh38]
Chr22:34046368 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.885C>T (p.Tyr295=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001497599]|not provided [RCV000938224] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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.958G>A (p.Ala320Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001047236] Chr22:33384239 [GRCh38]
Chr22:33780225 [GRCh37]
Chr22:22q12.3
uncertain significance
NC_000022.11:g.(?_33761361)_(33761486_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 disorders [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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001474663]|not provided [RCV000929476] Chr22:33283216 [GRCh38]
Chr22:33679202 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.432C>T (p.Cys144=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001430461]|not provided [RCV000875256] Chr22:33626303 [GRCh38]
Chr22:34022287 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1578C>T (p.Arg526=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001453768]|not provided [RCV000897235] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001484704]|not provided [RCV000916789] Chr22:33277168 [GRCh38]
Chr22:33673154 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1512C>T (p.Tyr504=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001439051]|not provided [RCV000920357] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000814080] Chr22:33277241 [GRCh38]
Chr22:33673227 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1521C>A (p.Asp507Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000795539] Chr22:33316104 [GRCh38]
Chr22:33712090 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.221A>C (p.Glu74Ala) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001149646]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148191]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001148190] Chr22:33277048 [GRCh38]
Chr22:33673034 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.*155C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001147289]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001147288] Chr22:33274272 [GRCh38]
Chr22:33670258 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001150092]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001426546]|not provided [RCV000919973] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001410339]|not provided [RCV000874921] Chr22:33304375 [GRCh38]
Chr22:33700361 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1473C>A (p.Ile491=) single nucleotide variant not provided [RCV000874424] Chr22:33304486 [GRCh38]
Chr22:33700472 [GRCh37]
Chr22:22q12.3
likely benign
NC_000022.11:g.(?_33604425)_(33604568_?)del deletion Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148189]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148404]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001148405] Chr22:33626275 [GRCh38]
Chr22:34022259 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.492-6C>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145640]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001145641] Chr22:33604564 [GRCh38]
Chr22:34000550 [GRCh37]
Chr22:22q12.3
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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001214056] Chr22:33337795 [GRCh38]
Chr22:33733781 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.*995T>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145234]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001225783] Chr22:33650644 [GRCh38]
Chr22:34046630 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.1215G>A (p.Leu405=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001238920] Chr22:33337718 [GRCh38]
Chr22:33733704 [GRCh37]
Chr22:22q12.3
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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001223529] Chr22:33277142 [GRCh38]
Chr22:33673128 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_004737.6(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
null 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_016343.4(CENPF):c.3244C>T (p.His1082Tyr) single nucleotide variant not provided [RCV001641361] Chr22:33856557 [GRCh38]
Chr22:34252545 [GRCh37]
Chr22:22q12.3
benign
null microsatellite not provided [RCV001590739] Chr22:33432562..33432563 [GRCh38]
Chr22:33828548..33828549 [GRCh37]
Chr22:22q12.3
likely benign
NM_015120.4(ALMS1):c.6085T>C (p.Ser2029Pro) deletion not provided [RCV001608632] Chr22:33761750..33761752 [GRCh38]
Chr22:34157737..34157739 [GRCh37]
Chr22:22q12.3
benign
null 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
null single nucleotide variant not provided [RCV001613818] Chr22:33381661 [GRCh38]
Chr22:33777647 [GRCh37]
Chr22:22q12.3
benign
null single nucleotide variant not provided [RCV001587924] Chr22:33304800 [GRCh38]
Chr22:33700786 [GRCh37]
Chr22:22q12.3
likely benign
null 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 not provided [RCV000873263] Chr22:33277231 [GRCh38]
Chr22:33673217 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.201G>C (p.Val67=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV000931695] Chr22:33650574 [GRCh38]
Chr22:34046560 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001413047]|not provided [RCV000952415] Chr22:33626309 [GRCh38]
Chr22:34022293 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1788G>T (p.Ala596=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001493580]|not provided [RCV000978163] Chr22:33283291 [GRCh38]
Chr22:33679277 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.543C>T (p.Ile181=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 not provided [RCV000917299] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001476018]|not provided [RCV000932148] Chr22:33564843 [GRCh38]
Chr22:33960829 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.597C>T (p.Tyr199=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001391840]|not provided [RCV000929283] Chr22:33604453 [GRCh38]
Chr22:34000439 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1846A>T (p.Met616Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001221884] Chr22:33283233 [GRCh38]
Chr22:33679219 [GRCh37]
Chr22:22q12.3
uncertain significance
GRCh37/hg19 22q12.3(chr22:34152899-34236578) copy number loss Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001195151] Chr22:34152899..34236578 [GRCh37]
Chr22:22q12.3
pathogenic
NM_133642.5(LARGE1):c.334G>T (p.Glu112Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001239849] Chr22:33650441 [GRCh38]
Chr22:34046427 [GRCh37]
Chr22:22q12.3
pathogenic
NM_133642.5(LARGE1):c.*969G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001145236]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148297]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148403]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001148402] Chr22:33626256 [GRCh38]
Chr22:34022240 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-377C>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001148626]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001148625] Chr22:33920289 [GRCh38]
Chr22:34316277 [GRCh37]
Chr22:22q12.3
uncertain significance
NC_000022.11:g.(?_33274417)_(33337811_?)dup duplication Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001033509] Chr22:33670403..33733797 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-527C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001144066]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001472883]|not provided [RCV000935651] Chr22:33274550 [GRCh38]
Chr22:33670536 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1431C>G (p.Val477=) single nucleotide variant not provided [RCV000911628] Chr22:33316105 [GRCh38]
Chr22:33712091 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.189G>A (p.Glu63=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001439070]|not provided [RCV000935409] Chr22:33650586 [GRCh38]
Chr22:34046572 [GRCh37]
Chr22:22q12.3
likely benign
NM_004737.6(LARGE1):c.708G>A (p.Glu236=) single nucleotide variant not provided [RCV000890652] Chr22:33564927 [GRCh38]
Chr22:33960913 [GRCh37]
Chr22:22q12.3
likely benign
NM_133642.5(LARGE1):c.1730+8C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001445352]|not provided [RCV000934371] 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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
null single nucleotide variant not provided [RCV001618078] Chr22:33857043 [GRCh38]
Chr22:34253031 [GRCh37]
Chr22:22q12.3
benign
NM_201384.3(PLEC):c.7029G>A (p.Ala2343=) single nucleotide variant not provided [RCV001721597] Chr22:33283436 [GRCh38]
Chr22:33679422 [GRCh37]
Chr22:22q12.3
benign
null microsatellite not provided [RCV001710597] Chr22:33432562..33432563 [GRCh38]
Chr22:33828548..33828549 [GRCh37]
Chr22:22q12.3
benign
null 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
null 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001149643]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001149976]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001149975] Chr22:33650545 [GRCh38]
Chr22:34046531 [GRCh37]
Chr22:22q12.3
uncertain significance
NM_133642.5(LARGE1):c.-202C>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A6 [RCV001143962]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, 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 Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B6 [RCV001067006] Chr22:33604481 [GRCh38]
Chr22:34000467 [GRCh37]
Chr22:22q12.3
uncertain significance
null single nucleotide variant not provided [RCV001587605] Chr22:33650530 [GRCh38]
Chr22:34046516 [GRCh37]
Chr22:22q12.3
uncertain significance