POMT2 (protein O-mannosyltransferase 2) - Rat Genome Database

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Gene: POMT2 (protein O-mannosyltransferase 2) Homo sapiens
Analyze
Symbol: POMT2
Name: protein O-mannosyltransferase 2
RGD ID: 1313480
HGNC Page HGNC
Description: Enables mannosyltransferase activity. Involved in protein O-linked mannosylation. Located in cytosol; nucleolus; and nucleoplasm. Implicated in lissencephaly and muscular dystrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: DKFZp686G10254; Dolichyl-phosphate-mannose--protein mannosyltransferase; dolichyl-phosphate-mannose--protein mannosyltransferase 2; FLJ22309; LGMD2N; LGMDR14; MDDGA2; MDDGB2; MDDGC2; protein O-mannosyl-transferase 2; protein-O-mannosyltransferase 2
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 Ensembl1477,274,956 - 77,320,883 (-)EnsemblGRCh38hg38GRCh38
GRCh381477,274,956 - 77,320,885 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371477,741,299 - 77,787,226 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361476,811,052 - 76,856,970 (-)NCBINCBI36hg18NCBI36
Build 341476,811,053 - 76,856,970NCBI
Celera1457,779,861 - 57,825,801 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1457,907,710 - 57,953,334 (-)NCBIHuRef
CHM1_11477,680,748 - 77,726,684 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


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

Biological Process

Cellular Component

Molecular Function

Molecular Pathway 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)
Abnormal pyramidal sign  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of brain morphology  (IAGP)
Abnormality of the tongue muscle  (IAGP)
Abnormality of the voice  (IAGP)
Absent septum pellucidum  (IAGP)
Absent speech  (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)
Bifid uvula  (IAGP)
Blindness  (IAGP)
Buphthalmos  (IAGP)
Calf muscle hypertrophy  (IAGP)
Calf muscle pseudohypertrophy  (IAGP)
Cardiomyopathy  (IAGP)
Cataract  (IAGP)
Cerebellar cyst  (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)
Clonus  (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)
Death in infancy  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased thalamic volume  (IAGP)
Delayed gross motor development  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty walking  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dilated fourth ventricle  (IAGP)
EEG abnormality  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG abnormality  (IAGP)
Encephalocele  (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)
Frontal cortical atrophy  (IAGP)
Fusion of the cerebellar hemispheres  (IAGP)
Gait disturbance  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Heterogeneous  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hyperlordosis  (IAGP)
Hypermetropia  (IAGP)
Hypertonia  (IAGP)
Hypoglycosylation of alpha-dystroglycan  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Infantile muscular hypotonia  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Iris coloboma  (IAGP)
Kinked brainstem  (IAGP)
Left ventricular hypertrophy  (IAGP)
Left ventricular systolic dysfunction  (IAGP)
Limb-girdle muscle weakness  (IAGP)
Limb-girdle muscular dystrophy  (IAGP)
Loss of ability to walk  (IAGP)
Low-set ears  (IAGP)
Lumbar hyperlordosis  (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)
Olivopontocerebellar hypoplasia  (IAGP)
Open mouth  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Partial absence of cerebellar vermis  (IAGP)
Persistent pupillary membrane  (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 amyotrophy  (IAGP)
Proximal muscle weakness  (IAGP)
Reduced muscle fiber alpha dystroglycan  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal dysplasia  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Retinal atrophy  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Right bundle branch block  (IAGP)
Scapular winging  (IAGP)
Scapuloperoneal amyotrophy  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Skeletal muscle hypertrophy  (IAGP)
Sloping forehead  (IAGP)
Specific learning disability  (IAGP)
Spinal deformities  (IAGP)
Spinal rigidity  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Type II lissencephaly  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Visual impairment  (IAGP)
References

Additional References at PubMed
PMID:8889548   PMID:11162531   PMID:12460945   PMID:12477932   PMID:12508121   PMID:14699049   PMID:14702039   PMID:15489334   PMID:16344560   PMID:16698797   PMID:16712791   PMID:16887026  
PMID:17878207   PMID:18490429   PMID:18513969   PMID:18804929   PMID:19138766   PMID:19299310   PMID:19880378   PMID:20301468   PMID:20301582   PMID:20816175   PMID:21782786   PMID:21873635  
PMID:24002165   PMID:26186194   PMID:28512129   PMID:28514442   PMID:28597972   PMID:28815891   PMID:28980384   PMID:28986522   PMID:29175898   PMID:29845934   PMID:30631154   PMID:31091453  
PMID:32409323   PMID:32513696   PMID:33961781   PMID:34565739  


Genomics

Comparative Map Data
POMT2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1477,274,956 - 77,320,883 (-)EnsemblGRCh38hg38GRCh38
GRCh381477,274,956 - 77,320,885 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371477,741,299 - 77,787,226 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361476,811,052 - 76,856,970 (-)NCBINCBI36hg18NCBI36
Build 341476,811,053 - 76,856,970NCBI
Celera1457,779,861 - 57,825,801 (-)NCBI
Cytogenetic Map14q24.3NCBI
HuRef1457,907,710 - 57,953,334 (-)NCBIHuRef
CHM1_11477,680,748 - 77,726,684 (-)NCBICHM1_1
Pomt2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391287,153,635 - 87,194,742 (-)NCBIGRCm39mm39
GRCm39 Ensembl1287,153,635 - 87,194,742 (-)Ensembl
GRCm381287,106,861 - 87,147,968 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1287,106,861 - 87,147,968 (-)EnsemblGRCm38mm10GRCm38
MGSCv371288,447,816 - 88,488,852 (-)NCBIGRCm37mm9NCBIm37
MGSCv361287,995,969 - 88,037,005 (-)NCBImm8
Celera1288,571,489 - 88,612,407 (-)NCBICelera
Cytogenetic Map12D2NCBI
Pomt2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.26106,755,462 - 106,794,849 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl6106,755,462 - 106,794,849 (-)Ensembl
Rnor_6.06111,137,329 - 111,176,991 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6111,135,349 - 111,176,918 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06120,423,138 - 120,461,156 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46111,242,085 - 111,259,180 (-)NCBIRGSC3.4rn4RGSC3.4
Celera6104,576,761 - 104,616,136 (-)NCBICelera
Cytogenetic Map6q31NCBI
Pomt2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554381,179,064 - 1,218,860 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554381,179,064 - 1,218,860 (-)NCBIChiLan1.0ChiLan1.0
POMT2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11477,029,625 - 77,075,819 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1477,029,625 - 77,075,806 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01457,827,841 - 57,874,100 (-)NCBIMhudiblu_PPA_v0panPan3
POMT2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1850,091,861 - 50,133,388 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl850,091,865 - 50,133,442 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha849,779,581 - 49,820,925 (-)NCBI
ROS_Cfam_1.0850,325,424 - 50,366,778 (-)NCBI
UMICH_Zoey_3.1849,988,099 - 50,029,629 (-)NCBI
UNSW_CanFamBas_1.0850,011,110 - 50,052,484 (-)NCBI
UU_Cfam_GSD_1.0850,409,323 - 50,450,667 (-)NCBI
Pomt2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864025,927,115 - 25,966,356 (+)NCBI
SpeTri2.0NW_0049364886,102,612 - 6,141,842 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
POMT2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7100,350,460 - 100,417,173 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17100,350,451 - 100,392,164 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27106,564,993 - 106,604,420 (+)NCBISscrofa10.2Sscrofa10.2susScr3
POMT2
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12454,519,980 - 54,567,584 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl2454,519,754 - 54,567,584 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366605342,720,189 - 42,767,567 (-)NCBIVero_WHO_p1.0
Pomt2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462473424,595,748 - 24,636,845 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
D14S1202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,741,366 - 77,741,465UniSTSGRCh37
Build 361476,811,119 - 76,811,218RGDNCBI36
Celera1457,779,928 - 57,780,027RGD
Cytogenetic Map14q24UniSTS
HuRef1457,907,777 - 57,907,876UniSTS
Stanford-G3 RH Map143066.0UniSTS
NCBI RH Map14888.9UniSTS
GeneMap99-G3 RH Map143114.0UniSTS
RH122064  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,743,744 - 77,744,028UniSTSGRCh37
Build 361476,813,497 - 76,813,781RGDNCBI36
Celera1457,782,306 - 57,782,590RGD
Cytogenetic Map14q24UniSTS
HuRef1457,910,155 - 57,910,439UniSTS
TNG Radiation Hybrid Map1428465.0UniSTS
G66716  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,787,375 - 77,787,608UniSTSGRCh37
Build 361476,857,128 - 76,857,361RGDNCBI36
Celera1457,825,951 - 57,826,184RGD
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map14q24UniSTS
HuRef1457,953,484 - 57,953,717UniSTS
POMT2_9616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,741,273 - 77,742,155UniSTSGRCh37
Build 361476,811,026 - 76,811,908RGDNCBI36
Celera1457,779,835 - 57,780,717RGD
HuRef1457,907,684 - 57,908,566UniSTS
RH185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,741,446 - 77,741,626UniSTSGRCh37
Build 361476,811,199 - 76,811,379RGDNCBI36
Celera1457,780,008 - 57,780,188RGD
Cytogenetic Map14q24UniSTS
HuRef1457,907,857 - 57,908,037UniSTS
GeneMap99-GB4 RH Map14206.68UniSTS
NCBI RH Map14913.7UniSTS
BCD3315  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,741,463 - 77,741,541UniSTSGRCh37
Build 361476,811,216 - 76,811,294RGDNCBI36
Celera1457,780,025 - 57,780,103RGD
Cytogenetic Map14q24UniSTS
HuRef1457,907,874 - 57,907,952UniSTS
GeneMap99-GB4 RH Map14219.81UniSTS
A008S04  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,742,094 - 77,742,211UniSTSGRCh37
Build 361476,811,847 - 76,811,964RGDNCBI36
Celera1457,780,656 - 57,780,773RGD
Cytogenetic Map14q24UniSTS
HuRef1457,908,505 - 57,908,622UniSTS
GeneMap99-GB4 RH Map14208.22UniSTS
RH45185  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,771,912 - 77,772,060UniSTSGRCh37
Build 361476,841,665 - 76,841,813RGDNCBI36
Celera1457,810,488 - 57,810,636RGD
Cytogenetic Map14q24UniSTS
HuRef1457,938,327 - 57,938,475UniSTS
GeneMap99-GB4 RH Map14206.68UniSTS
NCBI RH Map14913.7UniSTS
MARC_16033-16034:1017411527:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371477,751,304 - 77,751,922UniSTSGRCh37
Build 361476,821,057 - 76,821,675RGDNCBI36
Celera1457,789,877 - 57,790,495RGD
HuRef1457,917,719 - 57,918,337UniSTS
D10S275  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map13q12.13UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map6q24UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map20pter-q11.23UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map3q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12q24.32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map11p14.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map6q12-q13UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map2p14UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6690
Count of miRNA genes:1317
Interacting mature miRNAs:1739
Transcripts:ENST00000261534, ENST00000452340, ENST00000553863, ENST00000553880, ENST00000554564, ENST00000554767, ENST00000554884, ENST00000554948, ENST00000555134, ENST00000555675, ENST00000555710, ENST00000555788, ENST00000556171, ENST00000556326, ENST00000556394, ENST00000556404, ENST00000556446, ENST00000556851, ENST00000556880, ENST00000557289, ENST00000557525, ENST00000557675, ENST00000602717
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 visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1276 579 1222 110 213 28 2094 1035 1926 113 1215 1225 90 441 1463 2
Low 1156 2364 502 514 1690 437 2262 1161 1805 306 236 384 82 763 1325 2 2
Below cutoff 3 46 2 47 3 8 2 2 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536675 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536676 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011536677 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_943416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF105020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI927974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK023804 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL353956 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL554279 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY090480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BE797202 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM127609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM724049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX248027 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB148531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR627447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA056935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB456599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000261534   ⟹   ENSP00000261534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,956 - 77,320,883 (-)Ensembl
RefSeq Acc Id: ENST00000452340
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,958 - 77,320,704 (-)Ensembl
RefSeq Acc Id: ENST00000553863
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,299,455 - 77,304,800 (-)Ensembl
RefSeq Acc Id: ENST00000553880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,285,281 - 77,291,367 (-)Ensembl
RefSeq Acc Id: ENST00000554564
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,280,306 - 77,284,363 (-)Ensembl
RefSeq Acc Id: ENST00000554767
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,958 - 77,301,163 (-)Ensembl
RefSeq Acc Id: ENST00000554884
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,284,969 - 77,287,824 (-)Ensembl
RefSeq Acc Id: ENST00000554948   ⟹   ENSP00000452060
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,301,222 - 77,320,340 (-)Ensembl
RefSeq Acc Id: ENST00000555134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,024 - 77,285,603 (-)Ensembl
RefSeq Acc Id: ENST00000555675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,302,894 - 77,306,503 (-)Ensembl
RefSeq Acc Id: ENST00000555710   ⟹   ENSP00000451730
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,415 - 77,280,074 (-)Ensembl
RefSeq Acc Id: ENST00000555788
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,304,694 - 77,312,379 (-)Ensembl
RefSeq Acc Id: ENST00000556171   ⟹   ENSP00000451651
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,773 - 77,283,852 (-)Ensembl
RefSeq Acc Id: ENST00000556326   ⟹   ENSP00000450630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,299,524 - 77,320,860 (-)Ensembl
RefSeq Acc Id: ENST00000556394   ⟹   ENSP00000451967
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,967 - 77,320,860 (-)Ensembl
RefSeq Acc Id: ENST00000556404
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,285,567 - 77,287,209 (-)Ensembl
RefSeq Acc Id: ENST00000556446
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,286 - 77,279,061 (-)Ensembl
RefSeq Acc Id: ENST00000556851
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,286,748 - 77,291,493 (-)Ensembl
RefSeq Acc Id: ENST00000556880
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,301,146 - 77,306,897 (-)Ensembl
RefSeq Acc Id: ENST00000557289   ⟹   ENSP00000451115
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,296,164 - 77,301,249 (-)Ensembl
RefSeq Acc Id: ENST00000557525
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,304,773 - 77,312,635 (-)Ensembl
RefSeq Acc Id: ENST00000557675
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,285,480 - 77,296,507 (-)Ensembl
RefSeq Acc Id: ENST00000602717   ⟹   ENSP00000487704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,276,983 - 77,279,928 (-)Ensembl
RefSeq Acc Id: ENST00000682128   ⟹   ENSP00000506976
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,729 - 77,279,928 (-)Ensembl
RefSeq Acc Id: ENST00000682247   ⟹   ENSP00000507213
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,010 - 77,320,802 (-)Ensembl
RefSeq Acc Id: ENST00000682377   ⟹   ENSP00000507494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,302,835 - 77,304,800 (-)Ensembl
RefSeq Acc Id: ENST00000682382   ⟹   ENSP00000507975
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,279,367 - 77,320,629 (-)Ensembl
RefSeq Acc Id: ENST00000682395
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,000 - 77,306,503 (-)Ensembl
RefSeq Acc Id: ENST00000682459
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,214 - 77,306,503 (-)Ensembl
RefSeq Acc Id: ENST00000682467   ⟹   ENSP00000508062
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,275,030 - 77,320,827 (-)Ensembl
RefSeq Acc Id: ENST00000682560   ⟹   ENSP00000507033
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,280,021 - 77,285,632 (-)Ensembl
RefSeq Acc Id: ENST00000682615
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,729 - 77,279,928 (-)Ensembl
RefSeq Acc Id: ENST00000682706
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,286,744 - 77,287,012 (-)Ensembl
RefSeq Acc Id: ENST00000682729   ⟹   ENSP00000508119
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,283,797 - 77,285,041 (-)Ensembl
RefSeq Acc Id: ENST00000682795   ⟹   ENSP00000507574
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,008 - 77,320,741 (-)Ensembl
RefSeq Acc Id: ENST00000682891
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,284,311 - 77,285,041 (-)Ensembl
RefSeq Acc Id: ENST00000682895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,010 - 77,306,490 (-)Ensembl
RefSeq Acc Id: ENST00000682897   ⟹   ENSP00000507508
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,956 - 77,277,481 (-)Ensembl
RefSeq Acc Id: ENST00000682925   ⟹   ENSP00000508294
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,280,021 - 77,283,873 (-)Ensembl
RefSeq Acc Id: ENST00000682955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,971 - 77,306,503 (-)Ensembl
RefSeq Acc Id: ENST00000682973   ⟹   ENSP00000508268
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,279,823 - 77,280,463 (-)Ensembl
RefSeq Acc Id: ENST00000683095   ⟹   ENSP00000508040
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,729 - 77,280,463 (-)Ensembl
RefSeq Acc Id: ENST00000683167   ⟹   ENSP00000507063
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,299,455 - 77,301,249 (-)Ensembl
RefSeq Acc Id: ENST00000683188   ⟹   ENSP00000507734
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,038 - 77,320,476 (-)Ensembl
RefSeq Acc Id: ENST00000683285   ⟹   ENSP00000507918
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,291,314 - 77,296,273 (-)Ensembl
RefSeq Acc Id: ENST00000683300   ⟹   ENSP00000507630
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,296,164 - 77,304,800 (-)Ensembl
RefSeq Acc Id: ENST00000683328   ⟹   ENSP00000508096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,286,744 - 77,304,800 (-)Ensembl
RefSeq Acc Id: ENST00000683380
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,976 - 77,306,503 (-)Ensembl
RefSeq Acc Id: ENST00000683398   ⟹   ENSP00000507167
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,299,455 - 77,301,249 (-)Ensembl
RefSeq Acc Id: ENST00000683551   ⟹   ENSP00000506751
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,298,689 - 77,302,943 (-)Ensembl
RefSeq Acc Id: ENST00000683585
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,283,797 - 77,284,130 (-)Ensembl
RefSeq Acc Id: ENST00000683721
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,296,164 - 77,296,398 (-)Ensembl
RefSeq Acc Id: ENST00000683784   ⟹   ENSP00000506889
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,274,956 - 77,277,481 (-)Ensembl
RefSeq Acc Id: ENST00000683801
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,284,034 - 77,285,041 (-)Ensembl
RefSeq Acc Id: ENST00000683828   ⟹   ENSP00000507134
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,784 - 77,320,550 (-)Ensembl
RefSeq Acc Id: ENST00000683907   ⟹   ENSP00000507754
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,394 - 77,279,928 (-)Ensembl
RefSeq Acc Id: ENST00000684009
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,284,352 - 77,285,041 (-)Ensembl
RefSeq Acc Id: ENST00000684066
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,306,337 - 77,307,582 (-)Ensembl
RefSeq Acc Id: ENST00000684102
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,302,894 - 77,312,027 (-)Ensembl
RefSeq Acc Id: ENST00000684172   ⟹   ENSP00000508391
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,278,729 - 77,280,463 (-)Ensembl
RefSeq Acc Id: ENST00000684259
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,018 - 77,312,396 (-)Ensembl
RefSeq Acc Id: ENST00000684344   ⟹   ENSP00000507432
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,311,949 - 77,320,883 (-)Ensembl
RefSeq Acc Id: ENST00000684444   ⟹   ENSP00000507511
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,284,950 - 77,286,822 (-)Ensembl
RefSeq Acc Id: ENST00000684479
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,305,831 - 77,306,441 (-)Ensembl
RefSeq Acc Id: ENST00000684528   ⟹   ENSP00000507208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,291,314 - 77,296,273 (-)Ensembl
RefSeq Acc Id: ENST00000684534
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,315,655 - 77,320,704 (-)Ensembl
RefSeq Acc Id: ENST00000684538
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,170 - 77,280,542 (-)Ensembl
RefSeq Acc Id: ENST00000684549
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,277,018 - 77,306,503 (-)Ensembl
RefSeq Acc Id: ENST00000684554   ⟹   ENSP00000507348
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,296,164 - 77,301,249 (-)Ensembl
RefSeq Acc Id: ENST00000684600   ⟹   ENSP00000508113
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,304,692 - 77,312,033 (-)Ensembl
RefSeq Acc Id: ENST00000684670
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,305,745 - 77,306,441 (-)Ensembl
RefSeq Acc Id: ENST00000684746
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1477,306,337 - 77,306,920 (-)Ensembl
RefSeq Acc Id: NM_013382   ⟹   NP_037514
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,883 (-)NCBI
GRCh371477,741,299 - 77,787,225 (-)ENTREZGENE
Build 361476,811,052 - 76,856,970 (-)NCBI Archive
HuRef1457,907,710 - 57,953,334 (-)ENTREZGENE
CHM1_11477,680,748 - 77,726,684 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536675   ⟹   XP_011534977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,882 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536676   ⟹   XP_011534978
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,880 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011536677   ⟹   XP_011534979
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,884 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001750279
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,881 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001750282
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,885 (-)NCBI
Sequence:
RefSeq Acc Id: XR_943416
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,274,956 - 77,320,882 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_037514   ⟸   NM_013382
- UniProtKB: Q9UKY4 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011534979   ⟸   XM_011536677
- Peptide Label: isoform X3
- Sequence:
RefSeq Acc Id: XP_011534977   ⟸   XM_011536675
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011534978   ⟸   XM_011536676
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000451730   ⟸   ENST00000555710
RefSeq Acc Id: ENSP00000450630   ⟸   ENST00000556326
RefSeq Acc Id: ENSP00000451967   ⟸   ENST00000556394
RefSeq Acc Id: ENSP00000451651   ⟸   ENST00000556171
RefSeq Acc Id: ENSP00000451115   ⟸   ENST00000557289
RefSeq Acc Id: ENSP00000487704   ⟸   ENST00000602717
RefSeq Acc Id: ENSP00000261534   ⟸   ENST00000261534
RefSeq Acc Id: ENSP00000452060   ⟸   ENST00000554948
RefSeq Acc Id: ENSP00000508391   ⟸   ENST00000684172
RefSeq Acc Id: ENSP00000507734   ⟸   ENST00000683188
RefSeq Acc Id: ENSP00000507754   ⟸   ENST00000683907
RefSeq Acc Id: ENSP00000507511   ⟸   ENST00000684444
RefSeq Acc Id: ENSP00000507134   ⟸   ENST00000683828
RefSeq Acc Id: ENSP00000507208   ⟸   ENST00000684528
RefSeq Acc Id: ENSP00000507574   ⟸   ENST00000682795
RefSeq Acc Id: ENSP00000507975   ⟸   ENST00000682382
RefSeq Acc Id: ENSP00000507630   ⟸   ENST00000683300
RefSeq Acc Id: ENSP00000507033   ⟸   ENST00000682560
RefSeq Acc Id: ENSP00000508113   ⟸   ENST00000684600
RefSeq Acc Id: ENSP00000508294   ⟸   ENST00000682925
RefSeq Acc Id: ENSP00000507213   ⟸   ENST00000682247
RefSeq Acc Id: ENSP00000507918   ⟸   ENST00000683285
RefSeq Acc Id: ENSP00000507508   ⟸   ENST00000682897
RefSeq Acc Id: ENSP00000507494   ⟸   ENST00000682377
RefSeq Acc Id: ENSP00000507432   ⟸   ENST00000684344
RefSeq Acc Id: ENSP00000508062   ⟸   ENST00000682467
RefSeq Acc Id: ENSP00000508119   ⟸   ENST00000682729
RefSeq Acc Id: ENSP00000506751   ⟸   ENST00000683551
RefSeq Acc Id: ENSP00000508268   ⟸   ENST00000682973
RefSeq Acc Id: ENSP00000506889   ⟸   ENST00000683784
RefSeq Acc Id: ENSP00000508040   ⟸   ENST00000683095
RefSeq Acc Id: ENSP00000507167   ⟸   ENST00000683398
RefSeq Acc Id: ENSP00000507348   ⟸   ENST00000684554
RefSeq Acc Id: ENSP00000506976   ⟸   ENST00000682128
RefSeq Acc Id: ENSP00000508096   ⟸   ENST00000683328
RefSeq Acc Id: ENSP00000507063   ⟸   ENST00000683167
Protein Domains
MIR   PMT_4TMC

Promoters
RGD ID:6791802
Promoter ID:HG_KWN:19858
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell
Transcripts:UC001XTH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361476,837,156 - 76,837,656 (-)MPROMDB
RGD ID:6791817
Promoter ID:HG_KWN:19860
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001513,   NM_145870,   NM_145871,   UC001XTI.1,   UC001XTL.2,   UC010ASR.1,   UC010ASS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361476,856,456 - 76,858,152 (-)MPROMDB
RGD ID:7228241
Promoter ID:EPDNEW_H19865
Type:initiation region
Name:POMT2_1
Description:protein O-mannosyltransferase 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381477,320,876 - 77,320,936EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_013382.7(POMT2):c.1397G>A (p.Arg466Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000527597]|not provided [RCV001697306] Chr14:77285568 [GRCh38]
Chr14:77751911 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.7(POMT2):c.1467A>T (p.Gly489=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000542315] Chr14:77285498 [GRCh38]
Chr14:77751841 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.1828C>T (p.Leu610Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000529200] Chr14:77279886 [GRCh38]
Chr14:77746229 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1691C>T (p.Thr564Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000695518]|not provided [RCV000727260]|not specified [RCV000518453] Chr14:77280426 [GRCh38]
Chr14:77746769 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1912C>T (p.Arg638Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003373]|not provided [RCV000336243] Chr14:77278849 [GRCh38]
Chr14:77745192 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1006+1G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003374]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001203685]|not provided [RCV000379703] Chr14:77298688 [GRCh38]
Chr14:77765031 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.5(POMT2):c.1261del (p.Arg421fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003375] Chr14:77286815 [GRCh38]
Chr14:77753158 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003377]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648175]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003376]|Muscular dystrophy [RCV000193219]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000515301]|not provided [RCV000081569] Chr14:77278764 [GRCh38]
Chr14:77745107 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_013382.7(POMT2):c.2177G>A (p.Gly726Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000030874]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003378] Chr14:77277452 [GRCh38]
Chr14:77743795 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.5(POMT2):c.1941G>A (p.Trp647Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003379] Chr14:77278820 [GRCh38]
Chr14:77745163 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.2242T>C (p.Trp748Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000551490]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003380] Chr14:77277387 [GRCh38]
Chr14:77743730 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_013382.7(POMT2):c.1238G>C (p.Arg413Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003381]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001240349]|not provided [RCV000081563] Chr14:77288777 [GRCh38]
Chr14:77755120 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_013382.5(POMT2):c.1117G>T (p.Val373Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003382] Chr14:77291380 [GRCh38]
Chr14:77757723 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.593T>A (p.Ile198Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003383]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001294512]|not provided [RCV000732507] Chr14:77302898 [GRCh38]
Chr14:77769241 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance|not provided
NM_013382.5(POMT2):c.737G>A (p.Gly246Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003384] Chr14:77301169 [GRCh38]
Chr14:77767512 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.551C>T (p.Thr184Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001203060]|Intellectual disability [RCV001252357]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000003385]|not provided [RCV000723643] Chr14:77302940 [GRCh38]
Chr14:77769283 [GRCh37]
Chr14:14q24.3
pathogenic|uncertain significance
NM_013382.5(POMT2):c.2243G>C (p.Trp748Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000003386] Chr14:77277386 [GRCh38]
Chr14:77743729 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1057G>A (p.Gly353Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003387]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000030875]|not provided [RCV001570621] Chr14:77296223 [GRCh38]
Chr14:77762566 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_013382.5(POMT2):c.248+5G>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000003390] Chr14:77320429 [GRCh38]
Chr14:77786772 [GRCh37]
Chr14:14q24.3
pathogenic
POMT2, IVS12AS, G-A, -14 single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003391] Chr14:14q24.3 pathogenic
NM_013382.5(POMT2):c.1445G>T (p.Gly482Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000003392] Chr14:77285520 [GRCh38]
Chr14:77751863 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.671C>G (p.Pro224Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001363576]|not provided [RCV000728831] Chr14:77301235 [GRCh38]
Chr14:77767578 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1332+6_1332+9del microsatellite Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001086406]|not provided [RCV000727621] Chr14:77286735..77286738 [GRCh38]
Chr14:77753078..77753081 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.106G>C (p.Glu36Gln) single nucleotide variant not provided [RCV000729295] Chr14:77320576 [GRCh38]
Chr14:77786919 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.2206del (p.Gln736fs) deletion not provided [RCV000521594] Chr14:77277423 [GRCh38]
Chr14:77743766 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.7(POMT2):c.1870C>T (p.Arg624Trp) single nucleotide variant not provided [RCV000733262] Chr14:77279844 [GRCh38]
Chr14:77746187 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1512C>T (p.Cys504=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000552522] Chr14:77285014 [GRCh38]
Chr14:77751357 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001241622]|not provided [RCV000728228]|not specified [RCV000518653] Chr14:77301100 [GRCh38]
Chr14:77767443 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1863_1864del (p.Ala623fs) microsatellite not provided [RCV000517285] Chr14:77279850..77279851 [GRCh38]
Chr14:77746193..77746194 [GRCh37]
Chr14:14q24.3
likely pathogenic
GRCh38/hg38 14q24.3(chr14:73877072-78042422)x1 copy number loss See cases [RCV000051548] Chr14:73877072..78042422 [GRCh38]
Chr14:74343775..78508765 [GRCh37]
Chr14:73413528..77578518 [NCBI36]
Chr14:14q24.3
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:75489052-79610332)x1 copy number loss See cases [RCV000051549] Chr14:75489052..79610332 [GRCh38]
Chr14:75955395..80076675 [GRCh37]
Chr14:75025148..79146428 [NCBI36]
Chr14:14q24.3-31.1
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
NM_013382.7(POMT2):c.1045C>T (p.Arg349Trp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001088687]|not provided [RCV000712831] Chr14:77296235 [GRCh38]
Chr14:77762578 [GRCh37]
Chr14:76832331 [NCBI36]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_013382.5(POMT2):c.1044C>T (p.Leu348=) single nucleotide variant Malignant melanoma [RCV000070618] Chr14:77296236 [GRCh38]
Chr14:77762579 [GRCh37]
Chr14:76832332 [NCBI36]
Chr14:14q24.3
not provided
NM_013382.7(POMT2):c.1911= (p.Leu637=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001079366]|not provided [RCV000710193]|not specified [RCV000118038] Chr14:77278850 [GRCh38]
Chr14:77745193 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1006+5G>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001344111]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000118039]|not provided [RCV000725964] Chr14:77298684 [GRCh38]
Chr14:77765027 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000118041]|not provided [RCV000497603] Chr14:77299497 [GRCh38]
Chr14:77765840 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.5(POMT2):c.1106G>A (p.Arg369His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001304016]|not provided [RCV000081561] Chr14:77296174 [GRCh38]
Chr14:77762517 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1117-20C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001511532]|not specified [RCV000081562] Chr14:77291400 [GRCh38]
Chr14:77757743 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5(POMT2):c.1363C>T (p.Arg455Trp) single nucleotide variant not provided [RCV000081564] Chr14:77285602 [GRCh38]
Chr14:77751945 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1417C>T (p.Arg473Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000705738]|not provided [RCV000081565] Chr14:77285548 [GRCh38]
Chr14:77751891 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.162G>T (p.Ala54=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001514148]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000365540]|not provided [RCV001647059]|not specified [RCV000081566] Chr14:77320520 [GRCh38]
Chr14:77786863 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_013382.7(POMT2):c.1654-6A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001510199]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000270588]|not provided [RCV000576561]|not specified [RCV000081567] Chr14:77280469 [GRCh38]
Chr14:77746812 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_013382.5(POMT2):c.1895T>C (p.Leu632Ser) single nucleotide variant not provided [RCV000081568] Chr14:77278866 [GRCh38]
Chr14:77745209 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.2085G>T (p.Trp695Cys) single nucleotide variant not provided [RCV000081570] Chr14:77278456 [GRCh38]
Chr14:77744799 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.2086C>T (p.Pro696Ser) single nucleotide variant not provided [RCV000081571] Chr14:77278455 [GRCh38]
Chr14:77744798 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001084326]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000303743]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765180]|not provided [RCV000712838]|not specified [RCV001705757] Chr14:77320450 [GRCh38]
Chr14:77786793 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.293A>G (p.Asn98Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000525225]|not provided [RCV000081573] Chr14:77311989 [GRCh38]
Chr14:77778332 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000550659]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000989247]|Intellectual disability [RCV001252356]|not provided [RCV000081574] Chr14:77311962 [GRCh38]
Chr14:77778305 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.559C>T (p.Leu187Phe) single nucleotide variant not provided [RCV000081576] Chr14:77302932 [GRCh38]
Chr14:77769275 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.924-10C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000553099]|not specified [RCV000081577] Chr14:77298781 [GRCh38]
Chr14:77765124 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_013382.7(POMT2):c.161C>A (p.Ala54Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000531335]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000273298]|not provided [RCV000712833]|not specified [RCV000118040] Chr14:77320521 [GRCh38]
Chr14:77786864 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_013382.7(POMT2):c.1383= (p.Arg461=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001084394]|not provided [RCV000710192]|not specified [RCV000127577] Chr14:77285582 [GRCh38]
Chr14:77751925 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.2148-18A>G single nucleotide variant not specified [RCV000127579] Chr14:77277499 [GRCh38]
Chr14:77743842 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.2175C>T (p.Tyr725=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000557869]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001117392]|not specified [RCV000127580] Chr14:77277454 [GRCh38]
Chr14:77743797 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1978G>T (p.Val660Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001248506]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001331802] Chr14:77278783 [GRCh38]
Chr14:77745126 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1262G>A (p.Arg421Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000534768]|not provided [RCV001721104]|not specified [RCV000174368] Chr14:77286814 [GRCh38]
Chr14:77753157 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_013382.7(POMT2):c.1881G>A (p.Ala627=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648187]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000327579]|not provided [RCV001531816]|not specified [RCV000175331] Chr14:77279833 [GRCh38]
Chr14:77746176 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_013382.7(POMT2):c.1603del (p.Gln535fs) deletion not provided [RCV000171478] Chr14:77283847 [GRCh38]
Chr14:77750190 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001081717]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000335274]|not provided [RCV000553857]|not specified [RCV000178927] Chr14:77302839 [GRCh38]
Chr14:77769182 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.87A>T (p.Ala29=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001484220]|not provided [RCV000173433] Chr14:77320595 [GRCh38]
Chr14:77786938 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1913G>A (p.Arg638Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001302675] Chr14:77278848 [GRCh38]
Chr14:77745191 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001078868]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001120972]|not provided [RCV000724261]|not specified [RCV000195101] Chr14:77285561 [GRCh38]
Chr14:77751904 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1485-4A>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001078804]|not provided [RCV000174764] Chr14:77285045 [GRCh38]
Chr14:77751388 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1 copy number loss See cases [RCV000134154] Chr14:69562099..81975384 [GRCh38]
Chr14:70028816..82441728 [GRCh37]
Chr14:69098569..81511481 [NCBI36]
Chr14:14q24.1-31.1
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001087189]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000381501]|not provided [RCV000724544]|not specified [RCV000175070] Chr14:77280416 [GRCh38]
Chr14:77746759 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:77193005-80476132)x1 copy number loss See cases [RCV000137421] Chr14:77193005..80476132 [GRCh38]
Chr14:77659348..80942475 [GRCh37]
Chr14:76729101..80012228 [NCBI36]
Chr14:14q24.3-31.1
likely pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1 copy number loss See cases [RCV000143265] Chr14:73343213..78835059 [GRCh38]
Chr14:73809921..79301402 [GRCh37]
Chr14:72879674..78371155 [NCBI36]
Chr14:14q24.3-31.1
pathogenic|likely pathogenic
NM_013382.7(POMT2):c.1183+14A>G single nucleotide variant not specified [RCV000150018] Chr14:77291300 [GRCh38]
Chr14:77757643 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.-47_-44del deletion Congenital muscular dystrophy [RCV000150019]|Limb-Girdle Muscular Dystrophy, Recessive [RCV000306241] Chr14:77320725..77320728 [GRCh38]
Chr14:77787068..77787071 [GRCh37]
Chr14:14q24.3
benign|uncertain significance
NM_013382.5(POMT2):c.1261C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000699248]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001004950]|not provided [RCV000594145] Chr14:77286815 [GRCh38]
Chr14:77753158 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic|uncertain significance
NM_013382.5(POMT2):c.1426T>C (p.Phe476Leu) single nucleotide variant Congenital muscular dystrophy [RCV000150023] Chr14:77285539 [GRCh38]
Chr14:77751882 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1484+1G>T single nucleotide variant not provided [RCV000150024] Chr14:77285480 [GRCh38]
Chr14:77751823 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1699C>T (p.Pro567Ser) single nucleotide variant not provided [RCV000291459] Chr14:77280418 [GRCh38]
Chr14:77746761 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1733G>A (p.Arg578His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001322442] Chr14:77280073 [GRCh38]
Chr14:77746416 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.2056C>T (p.Arg686Trp) single nucleotide variant Congenital muscular dystrophy [RCV000150028] Chr14:77278485 [GRCh38]
Chr14:77744828 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1911T>G (p.Leu637=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001510198]|not specified [RCV000153051] Chr14:77278850 [GRCh38]
Chr14:77745193 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1383G>A (p.Arg461=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001514147]|not specified [RCV000153056] Chr14:77285582 [GRCh38]
Chr14:77751925 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000543953]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000763950]|not provided [RCV000712836]|not specified [RCV000175458] Chr14:77278858 [GRCh38]
Chr14:77745201 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1958C>T (p.Pro653Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000703953]|not provided [RCV000175459] Chr14:77278803 [GRCh38]
Chr14:77745146 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_013382.7(POMT2):c.1726-2A>G single nucleotide variant not provided [RCV000153052] Chr14:77280082 [GRCh38]
Chr14:77746425 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1683T>C (p.Asn561=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001085592]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001119000]|not provided [RCV000712835]|not specified [RCV000153054] Chr14:77280434 [GRCh38]
Chr14:77746777 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.5(POMT2):c.1478C>T (p.Pro493Leu) single nucleotide variant not provided [RCV000153055] Chr14:77285487 [GRCh38]
Chr14:77751830 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.643T>C (p.Ser215Pro) single nucleotide variant not provided [RCV000178928] Chr14:77302848 [GRCh38]
Chr14:77769191 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.891C>A (p.Thr297=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001117495]|not provided [RCV000179935] Chr14:77299487 [GRCh38]
Chr14:77765830 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.890C>T (p.Thr297Ile) single nucleotide variant not provided [RCV000179936] Chr14:77299488 [GRCh38]
Chr14:77765831 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.884C>T (p.Thr295Ile) single nucleotide variant not provided [RCV000179937] Chr14:77299494 [GRCh38]
Chr14:77765837 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.651C>T (p.Ala217=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001079001]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000400290]|not provided [RCV000725083] Chr14:77302840 [GRCh38]
Chr14:77769183 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.148C>G (p.Arg50Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000703683]|not provided [RCV001508366]|not specified [RCV000193136] Chr14:77320534 [GRCh38]
Chr14:77786877 [GRCh37]
Chr14:14q24.3
uncertain significance
null single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000538523]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001120971]|not provided [RCV001701637]|not specified [RCV000194537] Chr14:77284989 [GRCh38]
Chr14:77751332 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA indel Muscular dystrophy [RCV000192561] Chr14:77283874..77283878 [GRCh38]
Chr14:77750217..77750221 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.678del (p.Trp226fs) deletion Muscular dystrophy [RCV000194245] Chr14:77301228 [GRCh38]
Chr14:77767571 [GRCh37]
Chr14:14q24.3
pathogenic
NM_139279.6(MCFD2):c.249del (p.Asp83fs) single nucleotide variant not provided [RCV001596986]|not specified [RCV000228691] Chr14:77302862 [GRCh38]
Chr14:77769205 [GRCh37]
Chr14:14q24.3
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.958C>T (p.Gln320Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648179]|not provided [RCV000596523] Chr14:77298737 [GRCh38]
Chr14:77765080 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1007-32G>A single nucleotide variant not provided [RCV000835090]|not specified [RCV000251306] Chr14:77296305 [GRCh38]
Chr14:77762648 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.1786-39C>T single nucleotide variant not provided [RCV000830218]|not specified [RCV000241641] Chr14:77279967 [GRCh38]
Chr14:77746310 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.1577-8del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001503676]|not provided [RCV000892298]|not specified [RCV000253837] Chr14:77283881 [GRCh38]
Chr14:77750224 [GRCh37]
Chr14:14q24.3
likely benign
NM_002206.3(ITGA7):c.882G>A (p.Val294=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001522073]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001120974]|not provided [RCV001705370]|not specified [RCV000253926] Chr14:77286731 [GRCh38]
Chr14:77753074 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_013382.7(POMT2):c.439-45C>T single nucleotide variant not specified [RCV000244284] Chr14:77304845 [GRCh38]
Chr14:77771188 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1891+49C>T single nucleotide variant not provided [RCV000826813]|not specified [RCV000246629] Chr14:77279774 [GRCh38]
Chr14:77746117 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_013382.7(POMT2):c.1654-41G>C single nucleotide variant not specified [RCV000246720] Chr14:77280504 [GRCh38]
Chr14:77746847 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.817-18G>A single nucleotide variant not specified [RCV000249232] Chr14:77299579 [GRCh38]
Chr14:77765922 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1042C>G (p.Leu348Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000550888] Chr14:77296238 [GRCh38]
Chr14:77762581 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1184-47A>C single nucleotide variant not provided [RCV000833474]|not specified [RCV000244410] Chr14:77288878 [GRCh38]
Chr14:77755221 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1250A>G (p.Lys417Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000524642]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001116051]|not provided [RCV000658700]|not specified [RCV000249376] Chr14:77288765 [GRCh38]
Chr14:77755108 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1653+38G>A single nucleotide variant not specified [RCV000242117] Chr14:77283759 [GRCh38]
Chr14:77750102 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.334-45T>C single nucleotide variant not provided [RCV000826806]|not specified [RCV000252701] Chr14:77306486 [GRCh38]
Chr14:77772829 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1912C>A (p.Arg638=) single nucleotide variant not specified [RCV000252803] Chr14:77278849 [GRCh38]
Chr14:77745192 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1408C>T (p.Leu470=) single nucleotide variant not specified [RCV000250503] Chr14:77285557 [GRCh38]
Chr14:77751900 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1116+35A>G single nucleotide variant not provided [RCV001567856]|not specified [RCV000243326] Chr14:77296129 [GRCh38]
Chr14:77762472 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.5(POMT2):c.*15T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000265451] Chr14:77277361 [GRCh38]
Chr14:77743704 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*790G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000283369] Chr14:77276586 [GRCh38]
Chr14:77742929 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.*1603C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000345941] Chr14:77275773 [GRCh38]
Chr14:77742116 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1724C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000400007] Chr14:77275652 [GRCh38]
Chr14:77741995 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1748C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000287368] Chr14:77275628 [GRCh38]
Chr14:77741971 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.648C>T (p.Cys216=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000878493]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000304799]|not provided [RCV001723900]|not specified [RCV000436791] Chr14:77302843 [GRCh38]
Chr14:77769186 [GRCh37]
Chr14:14q24.3
benign|likely benign|uncertain significance
NM_013382.5(POMT2):c.*2151A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000269482] Chr14:77275225 [GRCh38]
Chr14:77741568 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*2165T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000309408] Chr14:77275211 [GRCh38]
Chr14:77741554 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1087C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000353727] Chr14:77276289 [GRCh38]
Chr14:77742632 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.*678AG[2] microsatellite Limb-Girdle Muscular Dystrophy, Recessive [RCV000291385] Chr14:77276693..77276694 [GRCh38]
Chr14:77743036..77743037 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1396C>T (p.Arg466Trp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000548762]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000292757] Chr14:77285569 [GRCh38]
Chr14:77751912 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1317A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000311852] Chr14:77276059 [GRCh38]
Chr14:77742402 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-124G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000334148]|not provided [RCV000833473] Chr14:77320805 [GRCh38]
Chr14:77787148 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.*2325A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000405359] Chr14:77275051 [GRCh38]
Chr14:77741394 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.5(POMT2):c.*2072C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000275187] Chr14:77275304 [GRCh38]
Chr14:77741647 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_003895.3(SYNJ1):c.3486A>G (p.Pro1162=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000386260]|not provided [RCV001683265] Chr14:77320809 [GRCh38]
Chr14:77787152 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.-64G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000276759]|not provided [RCV000833954] Chr14:77320745 [GRCh38]
Chr14:77787088 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.*605C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000294833] Chr14:77276771 [GRCh38]
Chr14:77743114 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*1058G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000261235] Chr14:77276318 [GRCh38]
Chr14:77742661 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.*1756C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000317707] Chr14:77275620 [GRCh38]
Chr14:77741963 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.5(POMT2):c.*1742G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000342374] Chr14:77275634 [GRCh38]
Chr14:77741977 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5(POMT2):c.924-6C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000282331] Chr14:77298777 [GRCh38]
Chr14:77765120 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1137G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000319860] Chr14:77276239 [GRCh38]
Chr14:77742582 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5(POMT2):c.*1805G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000281350] Chr14:77275571 [GRCh38]
Chr14:77741914 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1116+4A>G single nucleotide variant not provided [RCV000302179] Chr14:77296160 [GRCh38]
Chr14:77762503 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) single nucleotide variant not provided [RCV000725100]|not specified [RCV000302233] Chr14:77280063 [GRCh38]
Chr14:77746406 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.2086C>A (p.Pro696Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001064516]|not provided [RCV000304861] Chr14:77278455 [GRCh38]
Chr14:77744798 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-7G>A single nucleotide variant not provided [RCV000373294] Chr14:77320688 [GRCh38]
Chr14:77787031 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*758G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000322091] Chr14:77276618 [GRCh38]
Chr14:77742961 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.631G>A (p.Val211Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000343332] Chr14:77302860 [GRCh38]
Chr14:77769203 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.293A>C (p.Asn98Thr) single nucleotide variant not provided [RCV000271734] Chr14:77311989 [GRCh38]
Chr14:77778332 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.1117-7C>G single nucleotide variant not provided [RCV000272937] Chr14:77291387 [GRCh38]
Chr14:77757730 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.829A>G (p.Lys277Glu) single nucleotide variant not provided [RCV000304908] Chr14:77299549 [GRCh38]
Chr14:77765892 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.1192G>C (p.Asp398His) single nucleotide variant not provided [RCV000340338] Chr14:77288823 [GRCh38]
Chr14:77755166 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.795C>T (p.Phe265=) single nucleotide variant not provided [RCV000340387] Chr14:77301111 [GRCh38]
Chr14:77767454 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.*2091G>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000369695] Chr14:77275285 [GRCh38]
Chr14:77741628 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.7(POMT2):c.1045_1052delinsG (p.Arg349fs) indel not provided [RCV000378130] Chr14:77296228..77296235 [GRCh38]
Chr14:77762571..77762578 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1658dup (p.Asn553fs) duplication not provided [RCV000291337] Chr14:77280458..77280459 [GRCh38]
Chr14:77746801..77746802 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001089293]|not provided [RCV000307780] Chr14:77278826 [GRCh38]
Chr14:77745169 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.5(POMT2):c.1396C>A (p.Arg466=) single nucleotide variant not provided [RCV000340279] Chr14:77285569 [GRCh38]
Chr14:77751912 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1654-8T>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000699063]|not provided [RCV000712834]|not specified [RCV000340714] Chr14:77280471 [GRCh38]
Chr14:77746814 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1033G>C (p.Val345Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001371825]|not provided [RCV000377655] Chr14:77296247 [GRCh38]
Chr14:77762590 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1726-9A>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001445245]|not provided [RCV000726355]|not specified [RCV000378448] Chr14:77280089 [GRCh38]
Chr14:77746432 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.*1501G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000370357] Chr14:77275875 [GRCh38]
Chr14:77742218 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.*1749C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000372300] Chr14:77275627 [GRCh38]
Chr14:77741970 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1568A>C (p.Asn523Thr) single nucleotide variant not provided [RCV000311553] Chr14:77284958 [GRCh38]
Chr14:77751301 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1407G>T (p.Val469=) single nucleotide variant not provided [RCV000311474] Chr14:77285558 [GRCh38]
Chr14:77751901 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1726-9A>G single nucleotide variant not provided [RCV000344431] Chr14:77280089 [GRCh38]
Chr14:77746432 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1977G>C (p.Arg659=) single nucleotide variant not provided [RCV000383254] Chr14:77278784 [GRCh38]
Chr14:77745127 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1516A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000306310] Chr14:77275860 [GRCh38]
Chr14:77742203 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.1186C>T (p.Pro396Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000813923]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000350044]|not provided [RCV000658701] Chr14:77288829 [GRCh38]
Chr14:77755172 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.662T>A (p.Phe221Tyr) single nucleotide variant not provided [RCV000313904] Chr14:77301244 [GRCh38]
Chr14:77767587 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.66C>T (p.Gly22=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001084620]|not provided [RCV000314138] Chr14:77320616 [GRCh38]
Chr14:77786959 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1824C>T (p.Tyr608=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001460392]|not provided [RCV000384630] Chr14:77279890 [GRCh38]
Chr14:77746233 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.5(POMT2):c.*1265T>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000262509] Chr14:77276111 [GRCh38]
Chr14:77742454 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1133A>G (p.His378Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000374398] Chr14:77291364 [GRCh38]
Chr14:77757707 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.2072G>T (p.Gly691Val) single nucleotide variant not provided [RCV000283624] Chr14:77278469 [GRCh38]
Chr14:77744812 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1290C>T (p.Ala430=) single nucleotide variant not provided [RCV000350790] Chr14:77286786 [GRCh38]
Chr14:77753129 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.613G>A (p.Ala205Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001207430]|not provided [RCV000386898] Chr14:77302878 [GRCh38]
Chr14:77769221 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*1974G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000330307] Chr14:77275402 [GRCh38]
Chr14:77741745 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.*1967C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000375908] Chr14:77275409 [GRCh38]
Chr14:77741752 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.295C>T (p.Arg99Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000694010]|not provided [RCV000285296] Chr14:77311987 [GRCh38]
Chr14:77778330 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*196G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000354134] Chr14:77277180 [GRCh38]
Chr14:77743523 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.924-2A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001230047]|not provided [RCV000352653] Chr14:77298773 [GRCh38]
Chr14:77765116 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.*2369dup duplication Limb-Girdle Muscular Dystrophy, Recessive [RCV000357805] Chr14:77275006..77275007 [GRCh38]
Chr14:77741349..77741350 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.84C>T (p.Ala28=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001080397]|not provided [RCV000287692] Chr14:77320598 [GRCh38]
Chr14:77786941 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001081512]|not provided [RCV000725152] Chr14:77302842 [GRCh38]
Chr14:77769185 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.102C>G (p.Ala34=) single nucleotide variant not provided [RCV000318103] Chr14:77320580 [GRCh38]
Chr14:77786923 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.844C>T (p.Arg282Cys) single nucleotide variant not provided [RCV000356061] Chr14:77299534 [GRCh38]
Chr14:77765877 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.-142C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000275502] Chr14:77320823 [GRCh38]
Chr14:77787166 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1651C>T (p.Arg551Trp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000687265]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000332782]|not provided [RCV000592305] Chr14:77283799 [GRCh38]
Chr14:77750142 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000559221]|not provided [RCV000288282] Chr14:77278841 [GRCh38]
Chr14:77745184 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.2083T>C (p.Trp695Arg) single nucleotide variant not provided [RCV000355610] Chr14:77278458 [GRCh38]
Chr14:77744801 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1593G>A (p.Leu531=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648192]|not provided [RCV001527681]|not specified [RCV000357691] Chr14:77283857 [GRCh38]
Chr14:77750200 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.5(POMT2):c.1080C>T (p.His360=) single nucleotide variant not provided [RCV000393483] Chr14:77296200 [GRCh38]
Chr14:77762543 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*2093A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000333736] Chr14:77275283 [GRCh38]
Chr14:77741626 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*606G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000382186] Chr14:77276770 [GRCh38]
Chr14:77743113 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2057G>A (p.Arg686Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001084974]|not provided [RCV000547725]|not specified [RCV000324625] Chr14:77278484 [GRCh38]
Chr14:77744827 [GRCh37]
Chr14:14q24.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1046G>A (p.Arg349Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001211087]|not provided [RCV000358693] Chr14:77296234 [GRCh38]
Chr14:77762577 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1006C>T (p.His336Tyr) single nucleotide variant not provided [RCV000359348] Chr14:77298689 [GRCh38]
Chr14:77765032 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*587G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000312624] Chr14:77276789 [GRCh38]
Chr14:77743132 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.*75C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000357869]|not provided [RCV001613006] Chr14:77277301 [GRCh38]
Chr14:77743644 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.*693C>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000383702] Chr14:77276683 [GRCh38]
Chr14:77743026 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1337C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000408412] Chr14:77276039 [GRCh38]
Chr14:77742382 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.7(POMT2):c.1558G>A (p.Asp520Asn) single nucleotide variant not provided [RCV000327203] Chr14:77284968 [GRCh38]
Chr14:77751311 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*119T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000266757] Chr14:77277257 [GRCh38]
Chr14:77743600 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*433T>C single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000337121] Chr14:77276943 [GRCh38]
Chr14:77743286 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1579C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000408431] Chr14:77275797 [GRCh38]
Chr14:77742140 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1871G>A (p.Arg624Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000692914]|not provided [RCV000260226] Chr14:77279843 [GRCh38]
Chr14:77746186 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.825G>A (p.Val275=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000797190]|not provided [RCV000294161] Chr14:77299553 [GRCh38]
Chr14:77765896 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1835G>T (p.Gly612Val) single nucleotide variant not provided [RCV000363399] Chr14:77279879 [GRCh38]
Chr14:77746222 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1306C>T (p.His436Tyr) single nucleotide variant not provided [RCV000401359] Chr14:77286770 [GRCh38]
Chr14:77753113 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1620G>A (p.Glu540=) single nucleotide variant not provided [RCV000295320] Chr14:77283830 [GRCh38]
Chr14:77750173 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-56G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000363297]|not provided [RCV000836028] Chr14:77320737 [GRCh38]
Chr14:77787080 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.7(POMT2):c.1123_1124dup (p.Tyr376fs) duplication Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001228238]|not provided [RCV000321942] Chr14:77291372..77291373 [GRCh38]
Chr14:77757715..77757716 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1229A>T (p.Asp410Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001312388]|not provided [RCV000725733] Chr14:77288786 [GRCh38]
Chr14:77755129 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1711C>T (p.Pro571Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000692456]|not provided [RCV000299846] Chr14:77280406 [GRCh38]
Chr14:77746749 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.621G>A (p.Met207Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000820051]|not provided [RCV000332567] Chr14:77302870 [GRCh38]
Chr14:77769213 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2223A>G (p.Gly741=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001088538]|not provided [RCV000333929] Chr14:77277406 [GRCh38]
Chr14:77743749 [GRCh37]
Chr14:14q24.3
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1732C>T (p.Arg578Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000812093]|not provided [RCV000368647] Chr14:77280074 [GRCh38]
Chr14:77746417 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.321G>A (p.Pro107=) single nucleotide variant not provided [RCV000368923] Chr14:77311961 [GRCh38]
Chr14:77778304 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1464G>A (p.Ser488=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001324454]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000389619] Chr14:77285501 [GRCh38]
Chr14:77751844 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.462G>A (p.Trp154Ter) single nucleotide variant not provided [RCV000490212] Chr14:77304777 [GRCh38]
Chr14:77771120 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1877C>T (p.Pro626Leu) single nucleotide variant not provided [RCV000597845] Chr14:77279837 [GRCh38]
Chr14:77746180 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.656+3C>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000532725]|not provided [RCV000732406] Chr14:77302832 [GRCh38]
Chr14:77769175 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1485-3C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001368611]|not provided [RCV000712832] Chr14:77285044 [GRCh38]
Chr14:77751387 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*927G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000380160] Chr14:77276449 [GRCh38]
Chr14:77742792 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*2160T>C single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000363980] Chr14:77275216 [GRCh38]
Chr14:77741559 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*103C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000305492] Chr14:77277273 [GRCh38]
Chr14:77743616 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*1610T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000283837] Chr14:77275766 [GRCh38]
Chr14:77742109 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-149C>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000318812] Chr14:77320830 [GRCh38]
Chr14:77787173 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.322C>T (p.Pro108Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000528931] Chr14:77311960 [GRCh38]
Chr14:77778303 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1285T>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000368838] Chr14:77276091 [GRCh38]
Chr14:77742434 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*597C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000352236] Chr14:77276779 [GRCh38]
Chr14:77743122 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*289G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000296882] Chr14:77277087 [GRCh38]
Chr14:77743430 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.856C>T (p.Leu286Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001308329]|not provided [RCV000598003] Chr14:77299522 [GRCh38]
Chr14:77765865 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1053A>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000323393] Chr14:77276323 [GRCh38]
Chr14:77742666 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*594G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000392369] Chr14:77276782 [GRCh38]
Chr14:77743125 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.*349G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000392372] Chr14:77277027 [GRCh38]
Chr14:77743370 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.553G>A (p.Gly185Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000393476] Chr14:77302938 [GRCh38]
Chr14:77769281 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-199C>T single nucleotide variant Limb-Girdle Muscular Dystrophy, Recessive [RCV000375802] Chr14:77320880 [GRCh38]
Chr14:77787223 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*622C>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000343954] Chr14:77276754 [GRCh38]
Chr14:77743097 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.128A>G (p.Lys43Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000550102]|not provided [RCV000726943] Chr14:77320554 [GRCh38]
Chr14:77786897 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2107G>C (p.Val703Leu) single nucleotide variant not provided [RCV000592724] Chr14:77278434 [GRCh38]
Chr14:77744777 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.224G>C (p.Arg75Pro) single nucleotide variant not provided [RCV000596550] Chr14:77320458 [GRCh38]
Chr14:77786801 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2147+9C>T single nucleotide variant not provided [RCV000592794] Chr14:77278385 [GRCh38]
Chr14:77744728 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.964C>G (p.Arg322Gly) single nucleotide variant not provided [RCV000593297] Chr14:77298731 [GRCh38]
Chr14:77765074 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1764_1765del (p.Val589fs) deletion not provided [RCV000599257] Chr14:77280041..77280042 [GRCh38]
Chr14:77746384..77746385 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.7(POMT2):c.2092G>C (p.Ala698Pro) single nucleotide variant not provided [RCV000593441] Chr14:77278449 [GRCh38]
Chr14:77744792 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1785G>C (p.Pro595=) single nucleotide variant not provided [RCV000597232] Chr14:77280021 [GRCh38]
Chr14:77746364 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.229G>A (p.Asp77Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648181]|not provided [RCV000712837] Chr14:77320453 [GRCh38]
Chr14:77786796 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2148-17C>G single nucleotide variant not specified [RCV000602784] Chr14:77277498 [GRCh38]
Chr14:77743841 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.*637C>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001120864] Chr14:77276739 [GRCh38]
Chr14:77743082 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*605C>G single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001120865] Chr14:77276771 [GRCh38]
Chr14:77743114 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*601G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001120866] Chr14:77276775 [GRCh38]
Chr14:77743118 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.659C>T (p.Pro220Leu) single nucleotide variant not provided [RCV000597992] Chr14:77301247 [GRCh38]
Chr14:77767590 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.542C>A (p.Thr181Asn) single nucleotide variant not provided [RCV000729951] Chr14:77304697 [GRCh38]
Chr14:77771040 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2228G>T (p.Arg743Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000536754] Chr14:77277401 [GRCh38]
Chr14:77743744 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1386A>C (p.Lys462Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001247618]|not provided [RCV000730668] Chr14:77285579 [GRCh38]
Chr14:77751922 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1805T>C (p.Leu602Pro) single nucleotide variant not provided [RCV000733072] Chr14:77279909 [GRCh38]
Chr14:77746252 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.845G>A (p.Arg282His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000794709]|not provided [RCV000734351] Chr14:77299533 [GRCh38]
Chr14:77765876 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1757A>G (p.Asp586Gly) single nucleotide variant not provided [RCV000734358] Chr14:77280049 [GRCh38]
Chr14:77746392 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.665C>G (p.Ser222Cys) single nucleotide variant not provided [RCV000731348] Chr14:77301241 [GRCh38]
Chr14:77767584 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1645A>G (p.Met549Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000541511] Chr14:77283805 [GRCh38]
Chr14:77750148 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.124C>T (p.Pro42Ser) single nucleotide variant not provided [RCV000733486] Chr14:77320558 [GRCh38]
Chr14:77786901 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1786-8C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001452560]|not provided [RCV000734116] Chr14:77279936 [GRCh38]
Chr14:77746279 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.672del (p.Trp225fs) deletion not provided [RCV000731600] Chr14:77301234 [GRCh38]
Chr14:77767577 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.169T>G (p.Trp57Gly) single nucleotide variant not provided [RCV000732764] Chr14:77320513 [GRCh38]
Chr14:77786856 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.134C>G (p.Pro45Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000707422]|not provided [RCV000522834] Chr14:77320548 [GRCh38]
Chr14:77786891 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.431T>G (p.Met144Arg) single nucleotide variant Abnormality of brain morphology [RCV000454201] Chr14:77306344 [GRCh38]
Chr14:77772687 [GRCh37]
Chr14:14q24.3
likely pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_013382.7(POMT2):c.1944A>G (p.Thr648=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001520196]|not specified [RCV000417408] Chr14:77278817 [GRCh38]
Chr14:77745160 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.1785+20C>T single nucleotide variant not specified [RCV000434258] Chr14:77280001 [GRCh38]
Chr14:77746344 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.2033-20G>A single nucleotide variant not specified [RCV000435156] Chr14:77278528 [GRCh38]
Chr14:77744871 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) single nucleotide variant not provided [RCV000727087]|not specified [RCV000442800] Chr14:77296263 [GRCh38]
Chr14:77762606 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001089064]|not provided [RCV000727451]|not specified [RCV000429115] Chr14:77288809 [GRCh38]
Chr14:77755152 [GRCh37]
Chr14:14q24.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.1983C>T (p.Leu661=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001427873]|not provided [RCV000939295]|not specified [RCV000443431] Chr14:77278778 [GRCh38]
Chr14:77745121 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1332+19T>G single nucleotide variant not specified [RCV000429579] Chr14:77286725 [GRCh38]
Chr14:77753068 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1254-7C>T single nucleotide variant not specified [RCV000440772] Chr14:77286829 [GRCh38]
Chr14:77753172 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1762C>T (p.Arg588Ter) single nucleotide variant not provided [RCV000439368] Chr14:77280044 [GRCh38]
Chr14:77746387 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1726-15G>C single nucleotide variant not specified [RCV000423423] Chr14:77280095 [GRCh38]
Chr14:77746438 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
NM_013382.7(POMT2):c.1006+1del deletion not provided [RCV000481157] Chr14:77298688 [GRCh38]
Chr14:77765031 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.769A>G (p.Thr257Ala) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001313887]|not provided [RCV000485326] Chr14:77301137 [GRCh38]
Chr14:77767480 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_013382.5(POMT2):c.49_50delinsA (p.Arg18fs) indel Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies [RCV000503458] Chr14:77320632..77320633 [GRCh38]
Chr14:77786975..77786976 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.7(POMT2):c.871C>G (p.Leu291Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000876435]|not specified [RCV000501689] Chr14:77299507 [GRCh38]
Chr14:77765850 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.7(POMT2):c.713G>T (p.Gly238Val) single nucleotide variant not specified [RCV000499957] Chr14:77301193 [GRCh38]
Chr14:77767536 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.50G>C (p.Arg17Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000815704]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001119097]|not provided [RCV000730161] Chr14:77320632 [GRCh38]
Chr14:77786975 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:76082940-78372356)x1 copy number loss See cases [RCV000511668] Chr14:76082940..78372356 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.1090G>A (p.Glu364Lys) single nucleotide variant not provided [RCV000492933] Chr14:77296190 [GRCh38]
Chr14:77762533 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.924-2A>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000822848]|not provided [RCV000523465] Chr14:77298773 [GRCh38]
Chr14:77765116 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.47C>G (p.Pro16Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000539098]|not provided [RCV000593533] Chr14:77320635 [GRCh38]
Chr14:77786978 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2197del (p.Gln733fs) deletion not provided [RCV000593976] Chr14:77277432 [GRCh38]
Chr14:77743775 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2147+2T>G single nucleotide variant not provided [RCV000596276] Chr14:77278392 [GRCh38]
Chr14:77744735 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1321G>A (p.Gly441Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001042775]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001116049]|not provided [RCV000596476] Chr14:77286755 [GRCh38]
Chr14:77753098 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.700G>A (p.Val234Ile) single nucleotide variant not provided [RCV000596814] Chr14:77301206 [GRCh38]
Chr14:77767549 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1141T>C (p.Tyr381His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648177]|not provided [RCV000597224] Chr14:77291356 [GRCh38]
Chr14:77757699 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1484+17T>C single nucleotide variant not specified [RCV000615145] Chr14:77285464 [GRCh38]
Chr14:77751807 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.248+20C>G single nucleotide variant not specified [RCV000615155] Chr14:77320414 [GRCh38]
Chr14:77786757 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.248+6T>C single nucleotide variant not specified [RCV000601401] Chr14:77320428 [GRCh38]
Chr14:77786771 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.2013C>T (p.Leu671=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001474568]|not specified [RCV000607179] Chr14:77278748 [GRCh38]
Chr14:77745091 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1932G>A (p.Leu644=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001479650]|not provided [RCV000976980]|not specified [RCV000616022] Chr14:77278829 [GRCh38]
Chr14:77745172 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.795C>G (p.Phe265Leu) single nucleotide variant not provided [RCV000594113] Chr14:77301111 [GRCh38]
Chr14:77767454 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.846T>A (p.Arg282=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000918105]|not specified [RCV000610588] Chr14:77299532 [GRCh38]
Chr14:77765875 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.439-16T>C single nucleotide variant not specified [RCV000610977] Chr14:77304816 [GRCh38]
Chr14:77771159 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1253+9A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001450640]|not specified [RCV000613796] Chr14:77288753 [GRCh38]
Chr14:77755096 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.2197C>T (p.Gln733Ter) single nucleotide variant not provided [RCV000592554]|not specified [RCV001553651] Chr14:77277432 [GRCh38]
Chr14:77743775 [GRCh37]
Chr14:14q24.3
likely pathogenic|uncertain significance
NM_013382.7(POMT2):c.29C>T (p.Ala10Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000539948] Chr14:77320653 [GRCh38]
Chr14:77786996 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1317C>T (p.Val439=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001432722]|not provided [RCV000536148] Chr14:77286759 [GRCh38]
Chr14:77753102 [GRCh37]
Chr14:14q24.3
likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_013382.7(POMT2):c.248+2T>C single nucleotide variant not provided [RCV000594921] Chr14:77320432 [GRCh38]
Chr14:77786775 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.5(POMT2):c.648C>A (p.Cys216Ter) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648174] Chr14:77302843 [GRCh38]
Chr14:77769186 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1012G>A (p.Ala338Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648176] Chr14:77296268 [GRCh38]
Chr14:77762611 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1754_1755del (p.Thr585fs) microsatellite Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648178] Chr14:77280051..77280052 [GRCh38]
Chr14:77746394..77746395 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.5(POMT2):c.1552G>A (p.Val518Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648180] Chr14:77284974 [GRCh38]
Chr14:77751317 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.1293dup (p.Met432fs) duplication Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648183] Chr14:77286782..77286783 [GRCh38]
Chr14:77753125..77753126 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.5(POMT2):c.1959G>A (p.Pro653=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648184] Chr14:77278802 [GRCh38]
Chr14:77745145 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1030A>C (p.Thr344Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648185] Chr14:77296250 [GRCh38]
Chr14:77762593 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5(POMT2):c.567G>A (p.Leu189=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000648189] Chr14:77302924 [GRCh38]
Chr14:77769267 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.636G>A (p.Lys212=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001413055]|not provided [RCV000648191] Chr14:77302855 [GRCh38]
Chr14:77769198 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.639C>A (p.Tyr213Ter) single nucleotide variant not provided [RCV000597859] Chr14:77302852 [GRCh38]
Chr14:77769195 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.2112G>A (p.Ala704=) single nucleotide variant not specified [RCV000607077] Chr14:77278429 [GRCh38]
Chr14:77744772 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1627C>A (p.Leu543Met) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001065039]|not provided [RCV000658417] Chr14:77283823 [GRCh38]
Chr14:77750166 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1927G>C (p.Val643Leu) single nucleotide variant not provided [RCV000658347] Chr14:77278834 [GRCh38]
Chr14:77745177 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1785G>A (p.Pro595=) single nucleotide variant not provided [RCV000658699] Chr14:77280021 [GRCh38]
Chr14:77746364 [GRCh37]
Chr14:14q24.3
conflicting interpretations of pathogenicity|uncertain significance
NM_013382.7(POMT2):c.658C>T (p.Pro220Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000700245] Chr14:77301248 [GRCh38]
Chr14:77767591 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.334-3C>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000714597]|Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000714598]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000714599] Chr14:77306444 [GRCh38]
Chr14:77772787 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q24.3(chr14:77692709-77801431)x1 copy number loss not provided [RCV000683583] Chr14:77692709..77801431 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2111C>T (p.Ala704Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000685710] Chr14:77278430 [GRCh38]
Chr14:77744773 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.133C>T (p.Pro45Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000687156]|not provided [RCV001093130] Chr14:77320549 [GRCh38]
Chr14:77786892 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.160G>T (p.Ala54Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000693505] Chr14:77320522 [GRCh38]
Chr14:77786865 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1653+4T>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000695110] Chr14:77283793 [GRCh38]
Chr14:77750136 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.248+1G>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000702634] Chr14:77320433 [GRCh38]
Chr14:77786776 [GRCh37]
Chr14:14q24.3
pathogenic|likely pathogenic
NM_013382.7(POMT2):c.1424G>A (p.Arg475His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000688313] Chr14:77285541 [GRCh38]
Chr14:77751884 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1485-2_1485-1del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000703321] Chr14:77285042..77285043 [GRCh38]
Chr14:77751385..77751386 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.7(POMT2):c.1790T>C (p.Val597Ala) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000703859] Chr14:77279924 [GRCh38]
Chr14:77746267 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2087C>T (p.Pro696Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000689655] Chr14:77278454 [GRCh38]
Chr14:77744797 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.640A>C (p.Asn214His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000706628]|not provided [RCV001171683] Chr14:77302851 [GRCh38]
Chr14:77769194 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.242A>G (p.His81Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000704520] Chr14:77320440 [GRCh38]
Chr14:77786783 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1604A>T (p.Gln535Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000693316] Chr14:77283846 [GRCh38]
Chr14:77750189 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1094G>A (p.Gly365Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000695476]|not provided [RCV000732550] Chr14:77296186 [GRCh38]
Chr14:77762529 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.586G>A (p.Asp196Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000704963] Chr14:77302905 [GRCh38]
Chr14:77769248 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.275T>C (p.Met92Thr) single nucleotide variant not provided [RCV000712839] Chr14:77312007 [GRCh38]
Chr14:77778350 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2148-6T>A single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000705228] Chr14:77277487 [GRCh38]
Chr14:77743830 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2182G>A (p.Val728Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000696030] Chr14:77277447 [GRCh38]
Chr14:77743790 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2085_2086delinsTT (p.Trp695_Pro696delinsCysSer) indel Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000685895] Chr14:77278455..77278456 [GRCh38]
Chr14:77744798..77744799 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1540T>A (p.Ser514Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000694308] Chr14:77284986 [GRCh38]
Chr14:77751329 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.884C>G (p.Thr295Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000691859] Chr14:77299494 [GRCh38]
Chr14:77765837 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1300C>T (p.Arg434Trp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000706103]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000763951] Chr14:77286776 [GRCh38]
Chr14:77753119 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1485-74G>C single nucleotide variant not provided [RCV001567453] Chr14:77285115 [GRCh38]
Chr14:77751458 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.439-93G>A single nucleotide variant not provided [RCV001571047] Chr14:77304893 [GRCh38]
Chr14:77771236 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1645A>T (p.Met549Leu) single nucleotide variant not provided [RCV001529292] Chr14:77283805 [GRCh38]
Chr14:77750148 [GRCh37]
Chr14:14q24.3
uncertain significance
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q24.3(chr14:77545470-77843384)x1 copy number loss not provided [RCV000738545] Chr14:77545470..77843384 [GRCh37]
Chr14:14q24.3
benign
GRCh37/hg19 14q24.3(chr14:77786021-77787706)x0 copy number loss not provided [RCV000751062] Chr14:77786021..77787706 [GRCh37]
Chr14:14q24.3
benign
null single nucleotide variant not provided [RCV001612430] Chr14:77296361 [GRCh38]
Chr14:77762704 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.69C>T (p.Pro23=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001396712]|not provided [RCV000938345] Chr14:77320613 [GRCh38]
Chr14:77786956 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.936C>T (p.Asp312=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000875257] Chr14:77298759 [GRCh38]
Chr14:77765102 [GRCh37]
Chr14:14q24.3
likely benign
null single nucleotide variant not provided [RCV001586404] Chr14:77289123 [GRCh38]
Chr14:77755466 [GRCh37]
Chr14:14q24.3
likely benign
null duplication not provided [RCV001612139] Chr14:77300819..77300820 [GRCh38]
Chr14:77767162..77767163 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1726-1dup duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001004949] Chr14:77280078..77280079 [GRCh38]
Chr14:77746421..77746422 [GRCh37]
Chr14:14q24.3
likely pathogenic
NM_013382.7(POMT2):c.548-300G>A single nucleotide variant not provided [RCV001547208] Chr14:77303243 [GRCh38]
Chr14:77769586 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.548-280G>A single nucleotide variant not provided [RCV001574277] Chr14:77303223 [GRCh38]
Chr14:77769566 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.547+14G>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001117496] Chr14:77304678 [GRCh38]
Chr14:77771021 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1936G>A (p.Gly646Ser) single nucleotide variant not provided [RCV001575154] Chr14:77278825 [GRCh38]
Chr14:77745168 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1906G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001117184] Chr14:77275470 [GRCh38]
Chr14:77741813 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1183+6G>C single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001116052] Chr14:77291308 [GRCh38]
Chr14:77757651 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-61G>A single nucleotide variant not provided [RCV001568886] Chr14:77320742 [GRCh38]
Chr14:77787085 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.816+8C>T single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000946045] Chr14:77301082 [GRCh38]
Chr14:77767425 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.196C>T (p.Leu66=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001410939]|not provided [RCV000928183] Chr14:77320486 [GRCh38]
Chr14:77786829 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1599G>A (p.Val533=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000877436] Chr14:77283851 [GRCh38]
Chr14:77750194 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1272C>T (p.His424=) single nucleotide variant not provided [RCV000915209] Chr14:77286804 [GRCh38]
Chr14:77753147 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1654-5T>C single nucleotide variant not provided [RCV000937324] Chr14:77280468 [GRCh38]
Chr14:77746811 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1238G>A (p.Arg413Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001062441] Chr14:77288777 [GRCh38]
Chr14:77755120 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1121C>G (p.Thr374Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001055921] Chr14:77291376 [GRCh38]
Chr14:77757719 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1433A>G (p.His478Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001054670] Chr14:77285532 [GRCh38]
Chr14:77751875 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1793G>A (p.Trp598Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV000778415] Chr14:77279921 [GRCh38]
Chr14:77746264 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.5:c.334-45T>C single nucleotide variant not provided [RCV000826806] Chr14:77772829 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5(POMT2):c.1117-7C>T single nucleotide variant not provided [RCV000905553] Chr14:77291387 [GRCh38]
Chr14:77757730 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.231C>T (p.Asp77=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001425301]|not provided [RCV000980494] Chr14:77320451 [GRCh38]
Chr14:77786794 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1254-9A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001397193]|not provided [RCV000978826] Chr14:77286831 [GRCh38]
Chr14:77753174 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.36C>A (p.Ser12=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000874248] Chr14:77320646 [GRCh38]
Chr14:77786989 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1009C>T (p.Leu337=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001425742]|not provided [RCV000980646] Chr14:77296271 [GRCh38]
Chr14:77762614 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.339G>A (p.Leu113=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000878379] Chr14:77306436 [GRCh38]
Chr14:77772779 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.9G>A (p.Pro3=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001393207]|not provided [RCV000976981] Chr14:77320673 [GRCh38]
Chr14:77787016 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1659C>T (p.Asn553=) single nucleotide variant not provided [RCV000919895] Chr14:77280458 [GRCh38]
Chr14:77746801 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.5(POMT2):c.2147+7A>C single nucleotide variant not provided [RCV000983051] Chr14:77278387 [GRCh38]
Chr14:77744730 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.2241A>T (p.Ser747=) single nucleotide variant not provided [RCV000875974] Chr14:77277388 [GRCh38]
Chr14:77743731 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.248+9T>C single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000917923] Chr14:77320425 [GRCh38]
Chr14:77786768 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.5(POMT2):c.1875G>T (p.Leu625=) single nucleotide variant not provided [RCV000884773] Chr14:77279839 [GRCh38]
Chr14:77746182 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1124C>T (p.Thr375Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000813640] Chr14:77291373 [GRCh38]
Chr14:77757716 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.673del (p.Trp225fs) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000804444] Chr14:77301233 [GRCh38]
Chr14:77767576 [GRCh37]
Chr14:14q24.3
pathogenic
NM_013382.7(POMT2):c.1854C>T (p.Ala618=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001402913]|not provided [RCV000977034] Chr14:77279860 [GRCh38]
Chr14:77746203 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.249-109A>G single nucleotide variant not provided [RCV000832283] Chr14:77312142 [GRCh38]
Chr14:77778485 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1006+212A>G single nucleotide variant not provided [RCV000832284] Chr14:77298477 [GRCh38]
Chr14:77764820 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1484+136T>C single nucleotide variant not provided [RCV000832285] Chr14:77285345 [GRCh38]
Chr14:77751688 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.599T>C (p.Met200Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000817512] Chr14:77302892 [GRCh38]
Chr14:77769235 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.50G>A (p.Arg17Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000803369] Chr14:77320632 [GRCh38]
Chr14:77786975 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1282_1284del (p.His428del) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000805132] Chr14:77286792..77286794 [GRCh38]
Chr14:77753135..77753137 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2127G>A (p.Leu709=) single nucleotide variant not provided [RCV000891732]|not specified [RCV001288361] Chr14:77278414 [GRCh38]
Chr14:77744757 [GRCh37]
Chr14:14q24.3
benign|likely benign
NM_013382.7(POMT2):c.1274G>C (p.Ser425Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000821894]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001116050] Chr14:77286802 [GRCh38]
Chr14:77753145 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.817-121C>T single nucleotide variant not provided [RCV000826810] Chr14:77299682 [GRCh38]
Chr14:77766025 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5:c.1184-47A>C single nucleotide variant not provided [RCV000833474] Chr14:77755221 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1576+55C>T single nucleotide variant not provided [RCV000833475] Chr14:77284895 [GRCh38]
Chr14:77751238 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.237G>A (p.Pro79=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001510339]|not provided [RCV000871538] Chr14:77320445 [GRCh38]
Chr14:77786788 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.248+108C>A single nucleotide variant not provided [RCV000837023] Chr14:77320326 [GRCh38]
Chr14:77786669 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.547+201T>C single nucleotide variant not provided [RCV000826807] Chr14:77304491 [GRCh38]
Chr14:77770834 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1006+4_1006+7del deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000808004] Chr14:77298682..77298685 [GRCh38]
Chr14:77765025..77765028 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1653+83A>C single nucleotide variant not provided [RCV000830140] Chr14:77283714 [GRCh38]
Chr14:77750057 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.438+81C>T single nucleotide variant not provided [RCV000833712] Chr14:77306256 [GRCh38]
Chr14:77772599 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1116+165C>T single nucleotide variant not provided [RCV000833713] Chr14:77295999 [GRCh38]
Chr14:77762342 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.685C>T (p.Leu229Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000799133] Chr14:77301221 [GRCh38]
Chr14:77767564 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.344G>C (p.Gly115Ala) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000820569] Chr14:77306431 [GRCh38]
Chr14:77772774 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.656+136dup duplication not provided [RCV000826809] Chr14:77302692..77302693 [GRCh38]
Chr14:77769035..77769036 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1007-331_1007-329dup duplication not provided [RCV000844141] Chr14:77296601..77296602 [GRCh38]
Chr14:77762944..77762945 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5:c.1786-39C>T single nucleotide variant not provided [RCV000830218] Chr14:77746310 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5:c.1007-32G>A single nucleotide variant not provided [RCV000835090] Chr14:77762648 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1857G>C (p.Met619Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000800436] Chr14:77279857 [GRCh38]
Chr14:77746200 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.2251T>C (p.Ter751Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000823407] Chr14:77277378 [GRCh38]
Chr14:77743721 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1786-18A>G single nucleotide variant not provided [RCV000842310] Chr14:77279946 [GRCh38]
Chr14:77746289 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.14C>G (p.Thr5Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000813904] Chr14:77320668 [GRCh38]
Chr14:77787011 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1654-217A>G single nucleotide variant not provided [RCV000826812] Chr14:77280680 [GRCh38]
Chr14:77747023 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1892-164C>T single nucleotide variant not provided [RCV000826814] Chr14:77279033 [GRCh38]
Chr14:77745376 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1975C>T (p.Arg659Trp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000815123] Chr14:77278786 [GRCh38]
Chr14:77745129 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1654-248_1654-242dup duplication not provided [RCV000844148] Chr14:77280704..77280705 [GRCh38]
Chr14:77747047..77747048 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.*2200G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001115750] Chr14:77275176 [GRCh38]
Chr14:77741519 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1474G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001115837] Chr14:77275902 [GRCh38]
Chr14:77742245 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1105C>T (p.Arg369Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001116053] Chr14:77296175 [GRCh38]
Chr14:77762518 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*2359A>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001115749] Chr14:77275017 [GRCh38]
Chr14:77741360 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1692G>A (p.Thr564=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001419327]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001118999] Chr14:77280425 [GRCh38]
Chr14:77746768 [GRCh37]
Chr14:14q24.3
likely benign|uncertain significance
NM_013382.7(POMT2):c.1576+10G>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001119001] Chr14:77284940 [GRCh38]
Chr14:77751283 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1317A>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001115838] Chr14:77276059 [GRCh38]
Chr14:77742402 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.-113G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001119098] Chr14:77320794 [GRCh38]
Chr14:77787137 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1653+266C>T single nucleotide variant not provided [RCV000830738] Chr14:77283531 [GRCh38]
Chr14:77749874 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.*1893G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001118809] Chr14:77275483 [GRCh38]
Chr14:77741826 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.*1774C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001118811] Chr14:77275602 [GRCh38]
Chr14:77741945 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1248C>G (p.His416Gln) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2 [RCV000785939] Chr14:77288767 [GRCh38]
Chr14:77755110 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*766C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001118901] Chr14:77276610 [GRCh38]
Chr14:77742953 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.816+51T>C single nucleotide variant not provided [RCV000826791] Chr14:77301039 [GRCh38]
Chr14:77767382 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1484+95A>G single nucleotide variant not provided [RCV000826811] Chr14:77285386 [GRCh38]
Chr14:77751729 [GRCh37]
Chr14:14q24.3
benign
NM_013382.5:c.1891+49C>T single nucleotide variant not provided [RCV000826813] Chr14:77746117 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.90C>T (p.Gly30=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001119096] Chr14:77320592 [GRCh38]
Chr14:77786935 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1223A>G (p.His408Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000814740] Chr14:77288792 [GRCh38]
Chr14:77755135 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.346C>T (p.Leu116Phe) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000821265] Chr14:77306429 [GRCh38]
Chr14:77772772 [GRCh37]
Chr14:14q24.3
uncertain significance
NC_000014.8:g.(?_77743699)_(78082942_?)dup duplication Hereditary sensory and autonomic neuropathy type IC [RCV000820601] Chr14:77277356..77616599 [GRCh38]
Chr14:77743699..78082942 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.1221A>G (p.Arg407=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV001470707]|not provided [RCV000981998] Chr14:77288794 [GRCh38]
Chr14:77755137 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1007-282T>C single nucleotide variant not provided [RCV000830708] Chr14:77296555 [GRCh38]
Chr14:77762898 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.642C>A (p.Asn214Lys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000798874] Chr14:77302849 [GRCh38]
Chr14:77769192 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.416A>G (p.His139Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000802157] Chr14:77306359 [GRCh38]
Chr14:77772702 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.548-77C>G single nucleotide variant not provided [RCV000836967] Chr14:77303020 [GRCh38]
Chr14:77769363 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1116+243T>G single nucleotide variant not provided [RCV000833955] Chr14:77295921 [GRCh38]
Chr14:77762264 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1006+261C>T single nucleotide variant not provided [RCV000844139] Chr14:77298428 [GRCh38]
Chr14:77764771 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1007-256G>A single nucleotide variant not provided [RCV000844144] Chr14:77296529 [GRCh38]
Chr14:77762872 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1142A>G (p.Tyr381Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000811005] Chr14:77291355 [GRCh38]
Chr14:77757698 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.817-123T>C single nucleotide variant not provided [RCV000826808] Chr14:77299684 [GRCh38]
Chr14:77766027 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1891+54A>G single nucleotide variant not provided [RCV000826816] Chr14:77279769 [GRCh38]
Chr14:77746112 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.936C>G (p.Asp312Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2 [RCV000845091] Chr14:77298759 [GRCh38]
Chr14:77765102 [GRCh37]
Chr14:14q24.3
not provided
NM_013382.7(POMT2):c.438+288G>C single nucleotide variant not provided [RCV000827900] Chr14:77306049 [GRCh38]
Chr14:77772392 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1007-346G>A single nucleotide variant not provided [RCV000827904] Chr14:77296619 [GRCh38]
Chr14:77762962 [GRCh37]
Chr14:14q24.3
benign
NM_013382.7(POMT2):c.1184-288T>C single nucleotide variant not provided [RCV000827906] Chr14:77289119 [GRCh38]
Chr14:77755462 [GRCh37]
Chr14:14q24.3
likely benign
NM_013382.7(POMT2):c.1843A>G (p.Ile615Val) single nucleotide variant not provided [RCV000992699] Chr14:77279871 [GRCh38]
Chr14:77746214 [GRCh37]
Chr14:14q24.3
uncertain significance
NM_013382.7(POMT2):c.*1043C>T single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C2 [RCV001117273] Chr14:77276333 [GRCh38]
Chr14:77742676 [GRCh37]
Chr14:14q24.3
uncertain significance