FKRP (fukutin related protein) - Rat Genome Database
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Gene: FKRP (fukutin related protein) Homo sapiens
Analyze
Symbol: FKRP
Name: fukutin related protein
RGD ID: 1314133
HGNC Page HGNC
Description: Predicted to have dystroglycan binding activity and transferase activity. Involved in protein O-linked mannosylation. Localizes to several cellular components, including Golgi apparatus; nucleoplasm; and rough endoplasmic reticulum. Implicated in dilated cardiomyopathy and muscular dystrophy (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FKTR; FLJ12576; fukutin-related protein; LGMD2I; LGMDR9; MDC1C; MDDGA5; MDDGB5; MDDGC5; MGC2991; ribitol-5-phosphate transferase
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 Ensembl1946,746,046 - 46,776,988 (+)EnsemblGRCh38hg38GRCh38
GRCh381946,746,015 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,249,314 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBINCBI36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

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 left ventricular function  (IAGP)
Abnormal pyramidal sign  (IAGP)
Abnormality iris morphology  (IAGP)
Abnormality of the Achilles tendon  (IAGP)
Abnormality of the cerebral white matter  (IAGP)
Abnormality of the periventricular white matter  (IAGP)
Abnormality of the pons  (IAGP)
Abnormality of the tongue muscle  (IAGP)
Abnormality of the voice  (IAGP)
Absent septum pellucidum  (IAGP)
Achilles tendon contracture  (IAGP)
Agenesis of corpus callosum  (IAGP)
Agyria  (IAGP)
Anal atresia  (IAGP)
Anophthalmia  (IAGP)
Aplasia/Hypoplasia involving the skeletal musculature  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (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 atrophy  (IAGP)
Cerebellar cyst  (IAGP)
Cerebellar dysplasia  (IAGP)
Cerebellar hypoplasia  (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 childhood  (IAGP)
Decreased cervical spine mobility  (IAGP)
Decreased thalamic volume  (IAGP)
Delayed gross motor development  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Difficulty standing  (IAGP)
Difficulty walking  (IAGP)
Diffuse white matter abnormalities  (IAGP)
Dilated cardiomyopathy  (IAGP)
Dilated fourth ventricle  (IAGP)
EEG abnormality  (IAGP)
Elevated serum creatine kinase  (IAGP)
EMG abnormality  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Excessive daytime somnolence  (IAGP)
Exercise-induced myoglobinuria  (IAGP)
Facial diplegia  (IAGP)
Facial palsy  (IAGP)
Fatigable weakness of skeletal muscles  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Feeding difficulties  (IAGP)
Feeding difficulties in infancy  (IAGP)
Flexion contracture  (IAGP)
Frequent falls  (IAGP)
Fusion of the cerebellar hemispheres  (IAGP)
Gait disturbance  (IAGP)
Gait imbalance  (IAGP)
Generalized hypotonia  (IAGP)
Generalized muscle weakness  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Gray matter heterotopia  (IAGP)
Headache  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Heterogeneous  (IAGP)
Hip dislocation  (IAGP)
Holoprosencephaly  (IAGP)
Hydrocephalus  (IAGP)
Hyperlordosis  (IAGP)
Hypertonia  (IAGP)
Hypertrophic cardiomyopathy  (IAGP)
Hypoglycosylation of alpha-dystroglycan  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the brainstem  (IAGP)
Hypoplasia of the corpus callosum  (IAGP)
Hypoplasia of the pons  (IAGP)
Hypoplastic male external genitalia  (IAGP)
Hyporeflexia  (IAGP)
Hypotonia  (IAGP)
Infantile muscular hypotonia  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, profound  (IAGP)
Intellectual disability, severe  (IAGP)
Iris coloboma  (IAGP)
Kyphoscoliosis  (IAGP)
Kyphosis  (IAGP)
Left ventricular hypertrophy  (IAGP)
Limb-girdle muscle atrophy  (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)
Megalocornea  (IAGP)
Meningocele  (IAGP)
Meningoencephalocele  (IAGP)
Metatarsus valgus  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Micropenis  (IAGP)
Microphthalmia  (IAGP)
Microtia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Muscle spasm  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myalgia  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Neurological speech impairment  (IAGP)
Nocturnal hypoventilation  (IAGP)
Occipital encephalocele  (IAGP)
Olivopontocerebellar hypoplasia  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Pachygyria  (IAGP)
Paresthesia  (IAGP)
Pelvic girdle muscle weakness  (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 forced vital capacity  (IAGP)
Reduced muscle fiber alpha dystroglycan  (IAGP)
Reduced muscle fiber merosin  (IAGP)
Reduced tendon reflexes  (IAGP)
Renal dysplasia  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Restrictive ventilatory defect  (IAGP)
Retinal atrophy  (IAGP)
Retinal detachment  (IAGP)
Retinal dysplasia  (IAGP)
Retinal dystrophy  (IAGP)
Scapular winging  (IAGP)
Scoliosis  (IAGP)
Seizure  (IAGP)
Severe muscular hypotonia  (IAGP)
Shoulder girdle muscle atrophy  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Skeletal muscle atrophy  (IAGP)
Specific learning disability  (IAGP)
Spinal deformities  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Thigh hypertrophy  (IAGP)
Toe walking  (IAGP)
Type II lissencephaly  (IAGP)
Variable expressivity  (IAGP)
Ventriculomegaly  (IAGP)
Vertebral fusion  (IAGP)
Visual impairment  (IAGP)
Waddling gait  (IAGP)
References

References - curated
1. Brockington M, etal., Am J Hum Genet. 2001 Dec;69(6):1198-209. Epub 2001 Oct 8.
2. Brockington M, etal., Hum Mol Genet. 2001 Dec 1;10(25):2851-9.
3. Chan YM, etal., Hum Mol Genet. 2010 Oct 15;19(20):3995-4006. doi: 10.1093/hmg/ddq314. Epub 2010 Jul 30.
4. Frosk P, etal., Hum Mutat. 2005 Jan;25(1):38-44.
5. GOA_HUMAN data from the GO Consortium
6. Guglieri M, etal., Hum Mutat. 2008 Feb;29(2):258-66.
7. Harel T, etal., Eur J Hum Genet. 2004 Jan;12(1):38-43.
8. Hong D, etal., J Clin Neurosci. 2011 Apr;18(4):494-9. doi: 10.1016/j.jocn.2010.08.010. Epub 2011 Feb 5.
9. Kefi M, etal., Neuropediatrics. 2008 Apr;39(2):113-5. doi: 10.1055/s-2008-1081465.
10. Louhichi N, etal., Neurogenetics 2004 Feb;5(1):27-34. Epub 2003 Dec 2.
11. Müller T, etal., Neuromuscul Disord. 2005 May;15(5):372-6.
12. OMIM Disease Annotation Pipeline
13. Qiao C, etal., Mol Ther. 2014 Nov;22(11):1890-9. doi: 10.1038/mt.2014.141. Epub 2014 Jul 22.
14. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
15. RGD automated import pipeline for gene-chemical interactions
16. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
17. Sveen ML, etal., Ann Neurol. 2006 May;59(5):808-15.
18. Van Reeuwijk J, etal., Clin Genet. 2010 Sep;78(3):275-81. doi: 10.1111/j.1399-0004.2010.01384.x. Epub 2010 Feb 11.
19. Vieira NM, etal., Neuromuscul Disord. 2006 Dec;16(12):870-3. Epub 2006 Nov 20.
20. Wang CH, etal., Am J Pathol. 2011 Jan;178(1):261-72. doi: 10.1016/j.ajpath.2010.11.020. Epub 2010 Dec 23.
Additional References at PubMed
PMID:8889548   PMID:10198165   PMID:11053680   PMID:11071142   PMID:11801394   PMID:12477932   PMID:12654965   PMID:12666124   PMID:12707439   PMID:14702039   PMID:15121789   PMID:15213246  
PMID:15489334   PMID:15574464   PMID:15883334   PMID:16055117   PMID:16344347   PMID:16344560   PMID:16751776   PMID:17055682   PMID:17336067   PMID:17351538   PMID:17446099   PMID:17952692  
PMID:18060779   PMID:18593008   PMID:18645206   PMID:19299310   PMID:19820980   PMID:19900540   PMID:19917824   PMID:19955119   PMID:20301468   PMID:20301582   PMID:20961759   PMID:21172462  
PMID:21311896   PMID:21873635   PMID:21886772   PMID:23800702   PMID:25279699   PMID:26186194   PMID:26574668   PMID:26810512   PMID:26923585   PMID:27439679   PMID:27711214   PMID:28479227  
PMID:28514442   PMID:28629604   PMID:28931339   PMID:29065428   PMID:29117863   PMID:29416295   PMID:29477842   PMID:30003095   PMID:30210031   PMID:31073040   PMID:31671740   PMID:31949166  
PMID:32764098   PMID:32914449  


Genomics

Comparative Map Data
FKRP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1946,746,046 - 46,776,988 (+)EnsemblGRCh38hg38GRCh38
GRCh381946,746,015 - 46,758,575 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371947,249,314 - 47,261,832 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361951,941,143 - 51,953,582 (+)NCBINCBI36hg18NCBI36
Build 341951,941,154 - 51,953,581NCBI
Celera1944,052,833 - 44,066,103 (+)NCBI
Cytogenetic Map19q13.32NCBI
HuRef1943,674,242 - 43,686,703 (+)NCBIHuRef
CHM1_11947,251,200 - 47,263,719 (+)NCBICHM1_1
Fkrp
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39716,543,192 - 16,550,657 (-)NCBIGRCm39mm39
GRCm39 Ensembl716,543,171 - 16,550,657 (-)Ensembl
GRCm38716,809,267 - 16,816,732 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl716,809,246 - 16,816,732 (-)EnsemblGRCm38mm10GRCm38
MGSCv37717,394,616 - 17,402,081 (-)NCBIGRCm37mm9NCBIm37
MGSCv36715,967,789 - 15,975,237 (-)NCBImm8
Celera714,007,271 - 14,014,735 (-)NCBICelera
Cytogenetic Map7A2NCBI
Fkrp
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2177,479,641 - 77,486,954 (-)NCBI
Rnor_6.0 Ensembl178,733,508 - 78,739,107 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0178,733,461 - 78,740,803 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0179,980,656 - 79,987,961 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4177,133,884 - 77,139,485 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1177,211,994 - 77,217,596 (-)NCBI
Celera171,964,734 - 71,970,335 (-)NCBICelera
Cytogenetic Map1q21NCBI
Fkrp
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955574786,758 - 788,348 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955574779,672 - 789,621 (+)NCBIChiLan1.0ChiLan1.0
FKRP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11952,268,889 - 52,277,888 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1952,273,546 - 52,276,341 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01943,738,339 - 43,748,250 (+)NCBIMhudiblu_PPA_v0panPan3
FKRP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11109,166,527 - 109,177,393 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1109,168,644 - 109,178,319 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1108,646,333 - 108,657,154 (-)NCBI
ROS_Cfam_1.01109,692,868 - 109,703,829 (-)NCBI
UMICH_Zoey_3.11109,370,001 - 109,380,952 (-)NCBI
UNSW_CanFamBas_1.01109,004,334 - 109,015,149 (-)NCBI
UU_Cfam_GSD_1.01109,872,874 - 109,883,835 (-)NCBI
LOC101955324
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934918,958,974 - 18,968,719 (+)NCBI
SpeTri2.0NW_004936664577,109 - 586,848 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKRP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl652,627,482 - 52,639,255 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1652,627,466 - 52,639,255 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2647,948,142 - 47,957,965 (+)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103234922
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1640,100,399 - 40,128,340 (+)NCBI
ChlSab1.1 Ensembl640,126,321 - 40,127,808 (+)Ensembl
Fkrp
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248326,849,001 - 6,858,931 (-)NCBI

Position Markers
A008J01  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371947,261,513 - 47,261,636UniSTSGRCh37
Build 361951,953,353 - 51,953,476RGDNCBI36
Celera1944,065,784 - 44,065,907RGD
Cytogenetic Map19q13.32UniSTS
HuRef1943,686,384 - 43,686,507UniSTS
GeneMap99-GB4 RH Map19254.74UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:9517
Count of miRNA genes:1147
Interacting mature miRNAs:1435
Transcripts:ENST00000318584, ENST00000391909, ENST00000593800, ENST00000593875, ENST00000593877, ENST00000593902, ENST00000593995, ENST00000594467, ENST00000595570, ENST00000595868, ENST00000596460, ENST00000596974, ENST00000597313, ENST00000597339, ENST00000597403, ENST00000598271, ENST00000600005, ENST00000600227, ENST00000600629, ENST00000600646, ENST00000600681, ENST00000600834, ENST00000600872, ENST00000600977, ENST00000601299, ENST00000602181, ENST00000602250
Prediction methods:Microtar, Miranda, Rnahybrid
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 1299 1230 983 70 520 30 1685 838 1251 148 1106 1251 49 346 1239 1
Low 1140 1740 743 554 1410 435 2671 1359 2483 271 354 362 125 1 858 1549 5 2
Below cutoff 21 21

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001039885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_024301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005259249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011527307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017027297 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008622 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ314847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022638 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK095497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW504292 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX879500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM979509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471126 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX866271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA123579 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB090073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN999716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000318584   ⟹   ENSP00000326570
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,758,575 (+)Ensembl
RefSeq Acc Id: ENST00000391909   ⟹   ENSP00000375776
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,757,913 (+)Ensembl
RefSeq Acc Id: ENST00000593800   ⟹   ENSP00000471209
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,753 (+)Ensembl
RefSeq Acc Id: ENST00000593875   ⟹   ENSP00000470297
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,755,709 (+)Ensembl
RefSeq Acc Id: ENST00000593877   ⟹   ENSP00000472850
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,747,659 - 46,755,463 (+)Ensembl
RefSeq Acc Id: ENST00000593902   ⟹   ENSP00000470901
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,748,758 - 46,755,861 (+)Ensembl
RefSeq Acc Id: ENST00000593995
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,748,963 (+)Ensembl
RefSeq Acc Id: ENST00000594467   ⟹   ENSP00000471971
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,984 (+)Ensembl
RefSeq Acc Id: ENST00000595570   ⟹   ENSP00000470929
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,054 - 46,755,634 (+)Ensembl
RefSeq Acc Id: ENST00000595868   ⟹   ENSP00000471573
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,660 (+)Ensembl
RefSeq Acc Id: ENST00000596460   ⟹   ENSP00000469373
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,059 - 46,755,655 (+)Ensembl
RefSeq Acc Id: ENST00000596974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,046 - 46,755,792 (+)Ensembl
RefSeq Acc Id: ENST00000597313   ⟹   ENSP00000472370
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,755,629 (+)Ensembl
RefSeq Acc Id: ENST00000597339
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,762,006 (+)Ensembl
RefSeq Acc Id: ENST00000597403
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,061 - 46,748,641 (+)Ensembl
RefSeq Acc Id: ENST00000598271   ⟹   ENSP00000471088
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,755,537 (+)Ensembl
RefSeq Acc Id: ENST00000600005   ⟹   ENSP00000470335
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,792 (+)Ensembl
RefSeq Acc Id: ENST00000600227   ⟹   ENSP00000468825
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,768 (+)Ensembl
RefSeq Acc Id: ENST00000600629   ⟹   ENSP00000470096
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,690 (+)Ensembl
RefSeq Acc Id: ENST00000600646
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,776,988 (+)Ensembl
RefSeq Acc Id: ENST00000600681
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,748,802 (+)Ensembl
RefSeq Acc Id: ENST00000600834   ⟹   ENSP00000470024
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,910 - 46,755,666 (+)Ensembl
RefSeq Acc Id: ENST00000600872
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,754,025 (+)Ensembl
RefSeq Acc Id: ENST00000600977
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,057 - 46,755,449 (+)Ensembl
RefSeq Acc Id: ENST00000601299   ⟹   ENSP00000470103
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,046 - 46,755,937 (+)Ensembl
RefSeq Acc Id: ENST00000602181   ⟹   ENSP00000472981
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,737 (+)Ensembl
RefSeq Acc Id: ENST00000602250   ⟹   ENSP00000472807
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1946,746,058 - 46,755,610 (+)Ensembl
RefSeq Acc Id: NM_001039885   ⟹   NP_001034974
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,057 - 46,758,575 (+)NCBI
GRCh371947,249,303 - 47,261,832 (+)ENTREZGENE
GRCh371947,249,303 - 47,261,832 (+)NCBI
Build 361951,941,143 - 51,953,582 (+)NCBI Archive
HuRef1943,674,242 - 43,686,703 (+)ENTREZGENE
CHM1_11947,251,200 - 47,263,719 (+)NCBI
Sequence:
RefSeq Acc Id: NM_024301   ⟹   NP_077277
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,057 - 46,758,575 (+)NCBI
GRCh371947,249,303 - 47,261,832 (+)ENTREZGENE
GRCh371947,249,303 - 47,261,832 (+)NCBI
Build 361951,941,143 - 51,953,582 (+)NCBI Archive
HuRef1943,674,242 - 43,686,703 (+)ENTREZGENE
CHM1_11947,251,200 - 47,263,719 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259247   ⟹   XP_005259304
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,057 - 46,758,486 (+)NCBI
GRCh371947,249,303 - 47,261,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259248   ⟹   XP_005259305
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,015 - 46,758,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005259249   ⟹   XP_005259306
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,062 - 46,758,486 (+)NCBI
GRCh371947,249,303 - 47,261,832 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527306   ⟹   XP_011525608
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,057 - 46,758,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011527307   ⟹   XP_011525609
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,058 - 46,758,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017027297   ⟹   XP_016882786
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,057 - 46,758,486 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024451707   ⟹   XP_024307475
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,057 - 46,758,486 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001034974   ⟸   NM_001039885
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_077277   ⟸   NM_024301
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259305   ⟸   XM_005259248
- Peptide Label: isoform X1
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259306   ⟸   XM_005259249
- Peptide Label: isoform X1
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005259304   ⟸   XM_005259247
- Peptide Label: isoform X1
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525608   ⟸   XM_011527306
- Peptide Label: isoform X1
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011525609   ⟸   XM_011527307
- Peptide Label: isoform X1
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016882786   ⟸   XM_017027297
- Peptide Label: isoform X1
- UniProtKB: Q9H9S5 (UniProtKB/Swiss-Prot),   A0A024R0R7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024307475   ⟸   XM_024451707
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000471971   ⟸   ENST00000594467
RefSeq Acc Id: ENSP00000470929   ⟸   ENST00000595570
RefSeq Acc Id: ENSP00000471573   ⟸   ENST00000595868
RefSeq Acc Id: ENSP00000469373   ⟸   ENST00000596460
RefSeq Acc Id: ENSP00000472370   ⟸   ENST00000597313
RefSeq Acc Id: ENSP00000471088   ⟸   ENST00000598271
RefSeq Acc Id: ENSP00000468825   ⟸   ENST00000600227
RefSeq Acc Id: ENSP00000470335   ⟸   ENST00000600005
RefSeq Acc Id: ENSP00000470096   ⟸   ENST00000600629
RefSeq Acc Id: ENSP00000470024   ⟸   ENST00000600834
RefSeq Acc Id: ENSP00000470103   ⟸   ENST00000601299
RefSeq Acc Id: ENSP00000375776   ⟸   ENST00000391909
RefSeq Acc Id: ENSP00000472807   ⟸   ENST00000602250
RefSeq Acc Id: ENSP00000472981   ⟸   ENST00000602181
RefSeq Acc Id: ENSP00000326570   ⟸   ENST00000318584
RefSeq Acc Id: ENSP00000470901   ⟸   ENST00000593902
RefSeq Acc Id: ENSP00000472850   ⟸   ENST00000593877
RefSeq Acc Id: ENSP00000470297   ⟸   ENST00000593875
RefSeq Acc Id: ENSP00000471209   ⟸   ENST00000593800

Promoters
RGD ID:13204767
Promoter ID:EPDNEW_H26003
Type:multiple initiation site
Name:FKRP_1
Description:fukutin related protein
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381946,746,058 - 46,746,118EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_024301.5(FKRP):c.610G>A (p.Ala204Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000541826] Chr19:46756060 [GRCh38]
Chr19:47259317 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1439A>T (p.Asn480Ile) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000547216]|not provided [RCV000596182] Chr19:46756889 [GRCh38]
Chr19:47260146 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.122G>T (p.Arg41Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000552107] Chr19:46755572 [GRCh38]
Chr19:47258829 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.142del (p.Arg48fs) deletion Walker-Warburg congenital muscular dystrophy [RCV000553071] Chr19:46755588 [GRCh38]
Chr19:47258845 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.474C>G (p.Ala158=) single nucleotide variant not provided [RCV000560287] Chr19:46755924 [GRCh38]
Chr19:47259181 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.387_390dup (p.Asp131delinsThrTer) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004443] Chr19:46755835..46755836 [GRCh38]
Chr19:47259092..47259093 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.158_162dup (p.Glu55fs) duplication Walker-Warburg congenital muscular dystrophy [RCV000559625] Chr19:46755605..46755606 [GRCh38]
Chr19:47258862..47258863 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1176C>T (p.Phe392=) single nucleotide variant not specified [RCV000602938] Chr19:46756626 [GRCh38]
Chr19:47259883 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.628C>G (p.Leu210Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273517]|Walker-Warburg congenital muscular dystrophy [RCV000697869]|not provided [RCV000519238] Chr19:46756078 [GRCh38]
Chr19:47259335 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.926A>G (p.Tyr309Cys) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 [RCV000004439] Chr19:46756376 [GRCh38]
Chr19:47259633 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1154C>A (p.Ser385Ter) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 [RCV000004440]|Walker-Warburg congenital muscular dystrophy [RCV000634067] Chr19:46756604 [GRCh38]
Chr19:47259861 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1343C>T (p.Pro448Leu) single nucleotide variant MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 [RCV000004441]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000763056]|not provided [RCV000360542] Chr19:46756793 [GRCh38]
Chr19:47260050 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000660622]|Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV001197775]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001329320]|Limb-girdle muscular dystrophy [RCV000612115]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004442]|Muscle weakness [RCV000626960]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000515332]|Muscular dystrophy-dystroglycanopathy [RCV000503787]|Walker-Warburg congenital muscular dystrophy [RCV000231711]|not provided [RCV000082182] Chr19:46756276 [GRCh38]
Chr19:47259533 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.1486T>A (p.Ter496Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004444]|Muscular dystrophy-dystroglycanopathy [RCV000501528]|Walker-Warburg congenital muscular dystrophy [RCV000471321]|not provided [RCV000725596] Chr19:46756936 [GRCh38]
Chr19:47260193 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.946C>A (p.Pro316Thr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000004445]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000675047] Chr19:46756396 [GRCh38]
Chr19:47259653 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_024301.5(FKRP):c.663C>A (p.Ser221Arg) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000004446] Chr19:46756113 [GRCh38]
Chr19:47259370 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1364C>A (p.Ala455Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000004447]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000201040]|Walker-Warburg congenital muscular dystrophy [RCV000532707]|not provided [RCV000597675] Chr19:46756814 [GRCh38]
Chr19:47260071 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1213G>T (p.Val405Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000004448] Chr19:46756663 [GRCh38]
Chr19:47259920 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.160C>T (p.Arg54Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004449] Chr19:46755610 [GRCh38]
Chr19:47258867 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.235G>A (p.Val79Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004450]|Walker-Warburg congenital muscular dystrophy [RCV001083979]|not provided [RCV000513718]|not specified [RCV000236146] Chr19:46755685 [GRCh38]
Chr19:47258942 [GRCh37]
Chr19:19q13.32
pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_024301.5(FKRP):c.764G>A (p.Trp255Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004451] Chr19:46756214 [GRCh38]
Chr19:47259471 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.400C>T (p.Arg134Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004452] Chr19:46755850 [GRCh38]
Chr19:47259107 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_024301.5(FKRP):c.899T>C (p.Val300Ala) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004453]|Walker-Warburg congenital muscular dystrophy [RCV000814162]|not provided [RCV000732974] Chr19:46756349 [GRCh38]
Chr19:47259606 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.919T>A (p.Tyr307Asn) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV000004454]|FKRP-Related Disorder [RCV000844942]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000004455]|Walker-Warburg congenital muscular dystrophy [RCV000805125]|not provided [RCV000494504] Chr19:46756369 [GRCh38]
Chr19:47259626 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|not provided
NM_024301.5(FKRP):c.953G>A (p.Cys318Tyr) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV000004456] Chr19:46756403 [GRCh38]
Chr19:47259660 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV001254718]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001336094]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273521]|MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 5 [RCV000004457]|Muscular dystrophy [RCV000194089]|Walker-Warburg congenital muscular dystrophy [RCV000540601]|not provided [RCV000178346] Chr19:46756837 [GRCh38]
Chr19:47260094 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_024301.5(FKRP):c.1A>G (p.Met1Val) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV000106303]|not provided [RCV000323348] Chr19:46755451 [GRCh38]
Chr19:47258708 [GRCh37]
Chr19:19q13.32
pathogenic
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 copy number gain See cases [RCV000050320] Chr19:46434490..46831000 [GRCh38]
Chr19:46937747..47334257 [GRCh37]
Chr19:51629587..52026097 [NCBI36]
Chr19:19q13.32
uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3 copy number gain See cases [RCV000052913] Chr19:46658791..49050450 [GRCh38]
Chr19:47162048..49553707 [GRCh37]
Chr19:51853888..54245519 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1 copy number loss See cases [RCV000053976] Chr19:46458122..47683579 [GRCh38]
Chr19:46961379..48186836 [GRCh37]
Chr19:51653219..52878648 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
NM_024301.5(FKRP):c.1027G>C (p.Glu343Gln) single nucleotide variant not provided [RCV000117036] Chr19:46756477 [GRCh38]
Chr19:47259734 [GRCh37]
Chr19:19q13.32
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.-34C>T single nucleotide variant not specified [RCV000082170] Chr19:46755417 [GRCh38]
Chr19:47258674 [GRCh37]
Chr19:19q13.32
benign
NM_024301.5(FKRP):c.135C>T (p.Ala45=) single nucleotide variant Dystrophin deficiency [RCV001272534]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000578086]|not provided [RCV000576338]|not specified [RCV000082171] Chr19:46755585 [GRCh38]
Chr19:47258842 [GRCh37]
Chr19:19q13.32
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024301.5(FKRP):c.1440C>T (p.Asn480=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000465660]|not specified [RCV000082173] Chr19:46756890 [GRCh38]
Chr19:47260147 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_024301.5(FKRP):c.249C>T (p.Ala83=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272537]|Walker-Warburg congenital muscular dystrophy [RCV000233707]|none provided [RCV001285395]|not specified [RCV000082174] Chr19:46755699 [GRCh38]
Chr19:47258956 [GRCh37]
Chr19:19q13.32
likely pathogenic|benign
NM_024301.5(FKRP):c.341C>G (p.Ala114Gly) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000577971]|Walker-Warburg congenital muscular dystrophy [RCV000227473]|none provided [RCV001282257]|not provided [RCV000711662]|not specified [RCV000082175] Chr19:46755791 [GRCh38]
Chr19:47259048 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024301.5(FKRP):c.404C>A (p.Ala135Asp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000673389]|not provided [RCV000082176] Chr19:46755854 [GRCh38]
Chr19:47259111 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.520A>T (p.Ser174Cys) single nucleotide variant Cardiomyopathy [RCV000852755]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275312]|Walker-Warburg congenital muscular dystrophy [RCV000234733]|not provided [RCV000991333]|not specified [RCV000173034] Chr19:46755970 [GRCh38]
Chr19:47259227 [GRCh37]
Chr19:19q13.32
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024301.5(FKRP):c.581T>A (p.Leu194Gln) single nucleotide variant not provided [RCV000082178] Chr19:46756031 [GRCh38]
Chr19:47259288 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.585C>T (p.Asp195=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000576800]|Walker-Warburg congenital muscular dystrophy [RCV001081711]|none provided [RCV000757298]|not specified [RCV000082179] Chr19:46756035 [GRCh38]
Chr19:47259292 [GRCh37]
Chr19:19q13.32
benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_024301.5(FKRP):c.606G>A (p.Leu202=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001088477]|not provided [RCV000723553]|not specified [RCV000082180] Chr19:46756056 [GRCh38]
Chr19:47259313 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.696G>T (p.Ala232=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665517]|not provided [RCV000082181] Chr19:46756146 [GRCh38]
Chr19:47259403 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.941C>T (p.Thr314Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000178344]|Walker-Warburg congenital muscular dystrophy [RCV001050280]|not provided [RCV000082183] Chr19:46756391 [GRCh38]
Chr19:47259648 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|conflicting data from submitters
NM_024301.5(FKRP):c.192C>T (p.Pro64=) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000576519]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272536]|Walker-Warburg congenital muscular dystrophy [RCV000227021]|none provided [RCV001284752]|not specified [RCV000117037] Chr19:46755642 [GRCh38]
Chr19:47258899 [GRCh37]
Chr19:19q13.32
benign
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000672414]|Primary dilated cardiomyopathy [RCV000852754]|Walker-Warburg congenital muscular dystrophy [RCV001081194]|not provided [RCV000512944]|not specified [RCV000153241] Chr19:46755877 [GRCh38]
Chr19:47259134 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.822C>G (p.Ile274Met) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001086481]|not provided [RCV000711666]|not specified [RCV000117039] Chr19:46756272 [GRCh38]
Chr19:47259529 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_024301.5(FKRP):c.1177G>A (p.Val393Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275320]|Walker-Warburg congenital muscular dystrophy [RCV000456138]|not provided [RCV001093246]|not specified [RCV000192864] Chr19:46756627 [GRCh38]
Chr19:47259884 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.-40+8C>G single nucleotide variant not specified [RCV000125116] Chr19:46748673 [GRCh38]
Chr19:47251930 [GRCh37]
Chr19:19q13.32
benign
NM_024301.5(FKRP):c.33G>C (p.Ala11=) single nucleotide variant not specified [RCV000171285] Chr19:46755483 [GRCh38]
Chr19:47258740 [GRCh37]
Chr19:19q13.32
likely pathogenic|likely benign
NM_024301.5(FKRP):c.636G>A (p.Ala212=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000471527]|not specified [RCV000178352] Chr19:46756086 [GRCh38]
Chr19:47259343 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_024301.5(FKRP):c.1179A>G (p.Val393=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001086801]|not provided [RCV000711659]|not specified [RCV000178362] Chr19:46756629 [GRCh38]
Chr19:47259886 [GRCh37]
Chr19:19q13.32
benign|likely benign
NM_024301.5(FKRP):c.1192G>A (p.Val398Ile) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001348079] Chr19:46756642 [GRCh38]
Chr19:47259899 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3 copy number gain See cases [RCV000136578] Chr19:44971420..48257402 [GRCh38]
Chr19:45474677..48760659 [GRCh37]
Chr19:50166517..53452471 [NCBI36]
Chr19:19q13.32-13.33
pathogenic
GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1 copy number loss See cases [RCV000137832] Chr19:45387389..46831000 [GRCh38]
Chr19:45890647..47334257 [GRCh37]
Chr19:50582487..52026097 [NCBI36]
Chr19:19q13.32
likely pathogenic
NM_024301.4(FKRP):c.469G>C (p.Ala157Pro) single nucleotide variant not provided [RCV000149966] Chr19:46755919 [GRCh38]
Chr19:47259176 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.4(FKRP):c.529G>A (p.Glu177Lys) single nucleotide variant not provided [RCV000149967] Chr19:46755979 [GRCh38]
Chr19:47259236 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1442C>A (p.Pro481His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000684981]|not provided [RCV000724960] Chr19:46756892 [GRCh38]
Chr19:47260149 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3 copy number gain See cases [RCV000148268] Chr19:46434490..46831000 [GRCh38]
Chr19:46937747..47334257 [GRCh37]
Chr19:51629587..52026097 [NCBI36]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275315]|Walker-Warburg congenital muscular dystrophy [RCV001079526]|none provided [RCV001287262]|not provided [RCV000711665]|not specified [RCV000153242] Chr19:46756190 [GRCh38]
Chr19:47259447 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001336093]|Walker-Warburg congenital muscular dystrophy [RCV000473789]|not provided [RCV000657079] Chr19:46756523 [GRCh38]
Chr19:47259780 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|uncertain significance
NM_024301.5(FKRP):c.613C>T (p.Arg205Cys) single nucleotide variant not provided [RCV000178351] Chr19:46756063 [GRCh38]
Chr19:47259320 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1115T>G (p.Val372Gly) single nucleotide variant not provided [RCV000178353] Chr19:46756565 [GRCh38]
Chr19:47259822 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.586G>A (p.Gly196Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674993]|Walker-Warburg congenital muscular dystrophy [RCV000548844]|not provided [RCV000178354] Chr19:46756036 [GRCh38]
Chr19:47259293 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.729G>A (p.Ala243=) single nucleotide variant not provided [RCV000178355] Chr19:46756179 [GRCh38]
Chr19:47259436 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1376C>T (p.Ala459Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001215498]|not provided [RCV000178356] Chr19:46756826 [GRCh38]
Chr19:47260083 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.647G>A (p.Arg216Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001313996]|not provided [RCV000178357] Chr19:46756097 [GRCh38]
Chr19:47259354 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.946C>T (p.Pro316Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000670956]|not provided [RCV000178358] Chr19:46756396 [GRCh38]
Chr19:47259653 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.947C>G (p.Pro316Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001065681]|not provided [RCV000263428] Chr19:46756397 [GRCh38]
Chr19:47259654 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|uncertain significance
NM_024301.5(FKRP):c.964C>G (p.Leu322Val) single nucleotide variant not provided [RCV000178360] Chr19:46756414 [GRCh38]
Chr19:47259671 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.954C>T (p.Cys318=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001085557]|not provided [RCV000178361] Chr19:46756404 [GRCh38]
Chr19:47259661 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.699G>A (p.Val233=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000950919]|not specified [RCV000194156] Chr19:46756149 [GRCh38]
Chr19:47259406 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001087598]|not provided [RCV000725091]|not specified [RCV000194696] Chr19:46756590 [GRCh38]
Chr19:47259847 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.483C>T (p.Ala161=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674471]|not specified [RCV000193165] Chr19:46755933 [GRCh38]
Chr19:47259190 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.426G>T (p.Glu142Asp) single nucleotide variant not specified [RCV000194933] Chr19:46755876 [GRCh38]
Chr19:47259133 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.37G>A (p.Ala13Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272533]|Walker-Warburg congenital muscular dystrophy [RCV000543616]|not provided [RCV000786132] Chr19:46755487 [GRCh38]
Chr19:47258744 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.313C>T (p.Gln105Ter) single nucleotide variant not provided [RCV000272017] Chr19:46755763 [GRCh38]
Chr19:47259020 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.402_403del (p.Arg134_Ala135insTer) deletion Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV000258204] Chr19:46755851..46755852 [GRCh38]
Chr19:47259108..47259109 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.456C>T (p.Ser152=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000549041] Chr19:46755906 [GRCh38]
Chr19:47259163 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.757G>T (p.Ala253Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000549762] Chr19:46756207 [GRCh38]
Chr19:47259464 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.170_186dup (p.Val63fs) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669278] Chr19:46755617..46755618 [GRCh38]
Chr19:47258874..47258875 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.686del (p.Arg229fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669713]|not provided [RCV001009211] Chr19:46756136 [GRCh38]
Chr19:47259393 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.466G>A (p.Val156Met) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000230805]|not provided [RCV000306319] Chr19:46755916 [GRCh38]
Chr19:47259173 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.114G>T (p.Gly38=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000233248] Chr19:46755564 [GRCh38]
Chr19:47258821 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.655G>A (p.Gly219Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000670321]|Walker-Warburg congenital muscular dystrophy [RCV000234060] Chr19:46756105 [GRCh38]
Chr19:47259362 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_024301.5(FKRP):c.1020C>T (p.Tyr340=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001082599]|not provided [RCV000711658]|not specified [RCV000243564] Chr19:46756470 [GRCh38]
Chr19:47259727 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity
NM_024301.5(FKRP):c.582G>A (p.Leu194=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669233]|Walker-Warburg congenital muscular dystrophy [RCV000228492] Chr19:46756032 [GRCh38]
Chr19:47259289 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.898G>A (p.Val300Met) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000672226]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765453]|Walker-Warburg congenital muscular dystrophy [RCV000226616]|not provided [RCV000726141]|not specified [RCV000398763] Chr19:46756348 [GRCh38]
Chr19:47259605 [GRCh37]
Chr19:19q13.32
pathogenic|uncertain significance
NM_024301.5(FKRP):c.545A>G (p.Tyr182Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000984175]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000763055]|Walker-Warburg congenital muscular dystrophy [RCV000810074]|not provided [RCV000336106] Chr19:46755995 [GRCh38]
Chr19:47259252 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.397G>T (p.Ala133Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000560502] Chr19:46755847 [GRCh38]
Chr19:47259104 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.567C>T (p.Pro189=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001085023]|not provided [RCV000725158]|not specified [RCV000254084] Chr19:46756017 [GRCh38]
Chr19:47259274 [GRCh37]
Chr19:19q13.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.708G>A (p.Leu236=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000668416]|not specified [RCV000250209] Chr19:46756158 [GRCh38]
Chr19:47259415 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.486G>A (p.Thr162=) single nucleotide variant not specified [RCV000245800] Chr19:46755936 [GRCh38]
Chr19:47259193 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1056C>T (p.Arg352=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000668941]|not specified [RCV000248317] Chr19:46756506 [GRCh38]
Chr19:47259763 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1256_1257del (p.Pro419fs) deletion not provided [RCV000597008] Chr19:46756705..46756706 [GRCh38]
Chr19:47259962..47259963 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.738_749del (p.Pro247_Thr250del) deletion not provided [RCV000317850] Chr19:46756187..46756198 [GRCh38]
Chr19:47259444..47259455 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.970G>T (p.Glu324Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000282481]|Walker-Warburg congenital muscular dystrophy [RCV000461986]|not provided [RCV000726333] Chr19:46756420 [GRCh38]
Chr19:47259677 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.1441C>G (p.Pro481Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001082322]|not provided [RCV000270749] Chr19:46756891 [GRCh38]
Chr19:47260148 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.1054C>T (p.Arg352Cys) single nucleotide variant not provided [RCV000725327] Chr19:46756504 [GRCh38]
Chr19:47259761 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.374T>C (p.Phe125Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001051049]|not provided [RCV000339599] Chr19:46755824 [GRCh38]
Chr19:47259081 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.749C>G (p.Thr250Arg) single nucleotide variant not provided [RCV000374832] Chr19:46756199 [GRCh38]
Chr19:47259456 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1003G>A (p.Ala335Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000797226]|not provided [RCV000306773] Chr19:46756453 [GRCh38]
Chr19:47259710 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1352C>T (p.Pro451Leu) single nucleotide variant not provided [RCV000343070] Chr19:46756802 [GRCh38]
Chr19:47260059 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.395G>A (p.Gly132Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000473686]|not provided [RCV000376960] Chr19:46755845 [GRCh38]
Chr19:47259102 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.169G>A (p.Glu57Lys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272535]|Walker-Warburg congenital muscular dystrophy [RCV000634051]|not provided [RCV000308811] Chr19:46755619 [GRCh38]
Chr19:47258876 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1087G>T (p.Val363Leu) single nucleotide variant not provided [RCV000378451] Chr19:46756537 [GRCh38]
Chr19:47259794 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.43A>C (p.Thr15Pro) single nucleotide variant not provided [RCV000380326] Chr19:46755493 [GRCh38]
Chr19:47258750 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.969C>T (p.Arg323=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001081031]|not provided [RCV000725724]|not specified [RCV000279066] Chr19:46756419 [GRCh38]
Chr19:47259676 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.401G>C (p.Arg134Pro) single nucleotide variant not provided [RCV000347401] Chr19:46755851 [GRCh38]
Chr19:47259108 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.586G>C (p.Gly196Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000673934]|not provided [RCV000314155] Chr19:46756036 [GRCh38]
Chr19:47259293 [GRCh37]
Chr19:19q13.32
conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.1268G>C (p.Arg423Pro) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001036818]|not provided [RCV000313947] Chr19:46756718 [GRCh38]
Chr19:47259975 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1383G>T (p.Ala461=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001086774]|not provided [RCV000346836] Chr19:46756833 [GRCh38]
Chr19:47260090 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.11C>G (p.Thr4Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273315]|Walker-Warburg congenital muscular dystrophy [RCV000466132]|not provided [RCV000726517]|not specified [RCV000382342] Chr19:46755461 [GRCh38]
Chr19:47258718 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.632C>T (p.Ser211Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000460118]|not provided [RCV000383820] Chr19:46756082 [GRCh38]
Chr19:47259339 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.85C>T (p.His29Tyr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001347668]|not provided [RCV000282353] Chr19:46755535 [GRCh38]
Chr19:47258792 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.675del (p.Thr226fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000673066]|Walker-Warburg congenital muscular dystrophy [RCV001218316]|not provided [RCV000346543] Chr19:46756125 [GRCh38]
Chr19:47259382 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.613C>G (p.Arg205Gly) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275314]|Walker-Warburg congenital muscular dystrophy [RCV000820298]|not provided [RCV000283493] Chr19:46756063 [GRCh38]
Chr19:47259320 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001079454]|not provided [RCV000285599] Chr19:46756604 [GRCh38]
Chr19:47259861 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.54T>A (p.Leu18=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001085217]|not provided [RCV000319756] Chr19:46755504 [GRCh38]
Chr19:47258761 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.1141del (p.Ala381fs) deletion not provided [RCV000363445] Chr19:46756586 [GRCh38]
Chr19:47259843 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.162_165dup (p.Phe56fs) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665348]|Walker-Warburg congenital muscular dystrophy [RCV000812275]|not provided [RCV000364855] Chr19:46755610..46755611 [GRCh38]
Chr19:47258867..47258868 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.803T>G (p.Leu268Arg) single nucleotide variant not provided [RCV000320524] Chr19:46756253 [GRCh38]
Chr19:47259510 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.682C>T (p.Leu228Phe) single nucleotide variant not provided [RCV000357213] Chr19:46756132 [GRCh38]
Chr19:47259389 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.904G>A (p.Gly302Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273518]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765454]|Walker-Warburg congenital muscular dystrophy [RCV000469653]|not provided [RCV000356554] Chr19:46756354 [GRCh38]
Chr19:47259611 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.885C>T (p.Arg295=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275317]|Walker-Warburg congenital muscular dystrophy [RCV001083609]|not provided [RCV000394110] Chr19:46756335 [GRCh38]
Chr19:47259592 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.962_970dup (p.Ala321_Arg323dup) duplication not provided [RCV000394003] Chr19:46756404..46756405 [GRCh38]
Chr19:47259661..47259662 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1267del (p.Arg423fs) deletion not provided [RCV000376382] Chr19:46756713 [GRCh38]
Chr19:47259970 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.892G>C (p.Gly298Arg) single nucleotide variant not provided [RCV000323602] Chr19:46756342 [GRCh38]
Chr19:47259599 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.544T>C (p.Tyr182His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000673996]|not provided [RCV000324567] Chr19:46755994 [GRCh38]
Chr19:47259251 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.731G>T (p.Arg244Leu) single nucleotide variant not provided [RCV000259631] Chr19:46756181 [GRCh38]
Chr19:47259438 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1316T>A (p.Val439Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001038658]|not provided [RCV000259518] Chr19:46756766 [GRCh38]
Chr19:47260023 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.151G>A (p.Val51Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275308]|Walker-Warburg congenital muscular dystrophy [RCV000475956]|not provided [RCV000359216] Chr19:46755601 [GRCh38]
Chr19:47258858 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.982_984del (p.Tyr328del) deletion Walker-Warburg congenital muscular dystrophy [RCV000634066]|not provided [RCV000398483] Chr19:46756432..46756434 [GRCh38]
Chr19:47259689..47259691 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1323T>G (p.Phe441Leu) single nucleotide variant not provided [RCV000399945] Chr19:46756773 [GRCh38]
Chr19:47260030 [GRCh37]
Chr19:19q13.32
likely pathogenic|uncertain significance
NM_024301.5(FKRP):c.1282A>G (p.Thr428Ala) single nucleotide variant not provided [RCV000362794] Chr19:46756732 [GRCh38]
Chr19:47259989 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1269_1270insT (p.Asn424Ter) insertion not provided [RCV000382228] Chr19:46756719..46756720 [GRCh38]
Chr19:47259976..47259977 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1306C>T (p.Arg436Trp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634055]|not provided [RCV000332543] Chr19:46756756 [GRCh38]
Chr19:47260013 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.731G>A (p.Arg244His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000664793]|Walker-Warburg congenital muscular dystrophy [RCV000457561]|not provided [RCV000725201]|not specified [RCV000331999] Chr19:46756181 [GRCh38]
Chr19:47259438 [GRCh37]
Chr19:19q13.32
conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.531G>A (p.Glu177=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001081894]|not provided [RCV000725725]|not specified [RCV000367687] Chr19:46755981 [GRCh38]
Chr19:47259238 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.385G>C (p.Val129Leu) single nucleotide variant not provided [RCV000404303] Chr19:46755835 [GRCh38]
Chr19:47259092 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.557C>T (p.Pro186Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272542]|Walker-Warburg congenital muscular dystrophy [RCV001065813]|not provided [RCV000266806] Chr19:46756007 [GRCh38]
Chr19:47259264 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.319G>T (p.Ala107Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001327233]|not provided [RCV000369694] Chr19:46755769 [GRCh38]
Chr19:47259026 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275311]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765452]|Walker-Warburg congenital muscular dystrophy [RCV000464325]|not provided [RCV000710136]|not specified [RCV000408156] Chr19:46755906 [GRCh38]
Chr19:47259163 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.563C>T (p.Ala188Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001242700]|not specified [RCV000489382] Chr19:46756013 [GRCh38]
Chr19:47259270 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.979C>G (p.Arg327Gly) single nucleotide variant not provided [RCV000489405] Chr19:46756429 [GRCh38]
Chr19:47259686 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.775C>T (p.Arg259Cys) single nucleotide variant not provided [RCV000594461] Chr19:46756225 [GRCh38]
Chr19:47259482 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.957_958delinsAA (p.Arg320Ser) indel not provided [RCV000523958] Chr19:46756407..46756408 [GRCh38]
Chr19:47259664..47259665 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.562G>A (p.Ala188Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272543]|Walker-Warburg congenital muscular dystrophy [RCV000634060]|not provided [RCV000711664] Chr19:46756012 [GRCh38]
Chr19:47259269 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1007C>T (p.Ala336Val) single nucleotide variant not provided [RCV000592511] Chr19:46756457 [GRCh38]
Chr19:47259714 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:47228251-47867279)x3 copy number gain not provided [RCV000585171] Chr19:47228251..47867279 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1137G>T (p.Arg379=) single nucleotide variant not provided [RCV000593367] Chr19:46756587 [GRCh38]
Chr19:47259844 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.703C>T (p.Leu235=) single nucleotide variant not provided [RCV000593445] Chr19:46756153 [GRCh38]
Chr19:47259410 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1363G>A (p.Ala455Thr) single nucleotide variant not provided [RCV000591271] Chr19:46756813 [GRCh38]
Chr19:47260070 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1270A>C (p.Asn424His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV001197776]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275321]|Walker-Warburg congenital muscular dystrophy [RCV000634052]|not provided [RCV000726824] Chr19:46756720 [GRCh38]
Chr19:47259977 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.737_749delinsG (p.Pro246_Thr250delinsArg) indel not provided [RCV000591512] Chr19:46756187..46756199 [GRCh38]
Chr19:47259444..47259456 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.4(FKRP):c.317C>T (p.Pro106Leu) single nucleotide variant not specified [RCV000414509] Chr19:46755767 [GRCh38]
Chr19:47259024 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.344C>T (p.Ser115Leu) single nucleotide variant not provided [RCV000595411] Chr19:46755794 [GRCh38]
Chr19:47259051 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.740del (p.Pro247fs) deletion not provided [RCV000733771] Chr19:46756186 [GRCh38]
Chr19:47259443 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.*10A>G single nucleotide variant not provided [RCV000730356] Chr19:46756948 [GRCh38]
Chr19:47260205 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1100T>C (p.Ile367Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000527187]|not provided [RCV001093245] Chr19:46756550 [GRCh38]
Chr19:47259807 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|uncertain significance
NM_024301.5(FKRP):c.1136G>A (p.Arg379Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001240350]|not provided [RCV000734659] Chr19:46756586 [GRCh38]
Chr19:47259843 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.524T>C (p.Leu175Pro) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001239053]|not provided [RCV000734707] Chr19:46755974 [GRCh38]
Chr19:47259231 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.516C>T (p.Asn172=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000536330] Chr19:46755966 [GRCh38]
Chr19:47259223 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.264C>G (p.Tyr88Ter) single nucleotide variant not provided [RCV000733489] Chr19:46755714 [GRCh38]
Chr19:47258971 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.760C>T (p.Arg254Cys) single nucleotide variant not provided [RCV000732784] Chr19:46756210 [GRCh38]
Chr19:47259467 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1236C>T (p.His412=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001086434]|not provided [RCV000732907] Chr19:46756686 [GRCh38]
Chr19:47259943 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.5G>T (p.Arg2Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000524840] Chr19:46755455 [GRCh38]
Chr19:47258712 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.187G>A (p.Val63Met) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000824147]|not provided [RCV000729290] Chr19:46755637 [GRCh38]
Chr19:47258894 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32(chr19:46918881-47782258)x3 copy number gain See cases [RCV000446734] Chr19:46918881..47782258 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.651G>A (p.Pro217=) single nucleotide variant not specified [RCV000431051] Chr19:46756101 [GRCh38]
Chr19:47259358 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.828A>G (p.Leu276=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000476018]|not specified [RCV000428011] Chr19:46756278 [GRCh38]
Chr19:47259535 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.-195A>G single nucleotide variant not specified [RCV000424725] Chr19:46748084 [GRCh38]
Chr19:47251341 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.573C>T (p.Cys191=) single nucleotide variant not specified [RCV000424811] Chr19:46756023 [GRCh38]
Chr19:47259280 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.264C>A (p.Tyr88Ter) single nucleotide variant not provided [RCV000419914] Chr19:46755714 [GRCh38]
Chr19:47258971 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.399G>T (p.Ala133=) single nucleotide variant not specified [RCV000428588] Chr19:46755849 [GRCh38]
Chr19:47259106 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-253+14G>A single nucleotide variant not specified [RCV000435408] Chr19:46746104 [GRCh38]
Chr19:47249361 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273522]|Walker-Warburg congenital muscular dystrophy [RCV001083062]|not provided [RCV000727355]|not specified [RCV000435487] Chr19:46756855 [GRCh38]
Chr19:47260112 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.-39-16C>T single nucleotide variant not specified [RCV000421718] Chr19:46755396 [GRCh38]
Chr19:47258653 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-39-15G>A single nucleotide variant not specified [RCV000439337] Chr19:46755397 [GRCh38]
Chr19:47258654 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.511C>G (p.Leu171Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000475297]|not provided [RCV000432470] Chr19:46755961 [GRCh38]
Chr19:47259218 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1191G>T (p.Ala397=) single nucleotide variant not specified [RCV000425983] Chr19:46756641 [GRCh38]
Chr19:47259898 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.891C>G (p.Phe297Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001211484] Chr19:46756341 [GRCh38]
Chr19:47259598 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.555C>T (p.Ala185=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000929262]|not specified [RCV000437127] Chr19:46756005 [GRCh38]
Chr19:47259262 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1394A>C (p.Tyr465Ser) single nucleotide variant not provided [RCV000436944] Chr19:46756844 [GRCh38]
Chr19:47260101 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.621C>T (p.Leu207=) single nucleotide variant not specified [RCV000430795] Chr19:46756071 [GRCh38]
Chr19:47259328 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.364G>A (p.Ala122Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000462869] Chr19:46755814 [GRCh38]
Chr19:47259071 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.820A>T (p.Ile274Phe) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000470213] Chr19:46756270 [GRCh38]
Chr19:47259527 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.328C>T (p.Arg110Trp) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272539]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765451]|Walker-Warburg congenital muscular dystrophy [RCV000459145]|not provided [RCV000991999] Chr19:46755778 [GRCh38]
Chr19:47259035 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.183C>G (p.Asn61Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000471431] Chr19:46755633 [GRCh38]
Chr19:47258890 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.379G>A (p.Ala127Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275310]|Walker-Warburg congenital muscular dystrophy [RCV000456630] Chr19:46755829 [GRCh38]
Chr19:47259086 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.82C>G (p.Gln28Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000467867]|not provided [RCV000594457] Chr19:46755532 [GRCh38]
Chr19:47258789 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.-272_-270GGC[8] microsatellite not specified [RCV000480889] Chr19:46746070..46746071 [GRCh38]
Chr19:47249327..47249328 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-39-2934_564del deletion Walker-Warburg congenital muscular dystrophy [RCV000464629] Chr19:46752478..46756014 [GRCh38]
Chr19:47255735..47259271 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1083C>A (p.Tyr361Ter) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000461046] Chr19:46756533 [GRCh38]
Chr19:47259790 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1291A>G (p.Thr431Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000457702] Chr19:46756741 [GRCh38]
Chr19:47259998 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.232C>T (p.Pro78Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000468926] Chr19:46755682 [GRCh38]
Chr19:47258939 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.678C>G (p.Thr226=) single nucleotide variant not provided [RCV000468984] Chr19:46756128 [GRCh38]
Chr19:47259385 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1155G>A (p.Ser385=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000472554] Chr19:46756605 [GRCh38]
Chr19:47259862 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.13C>T (p.Arg5Cys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000465267] Chr19:46755463 [GRCh38]
Chr19:47258720 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.351G>A (p.Pro117=) single nucleotide variant not provided [RCV000469920] Chr19:46755801 [GRCh38]
Chr19:47259058 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-52_-50del deletion not specified [RCV000479005] Chr19:46748651..46748653 [GRCh38]
Chr19:47251908..47251910 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1190C>T (p.Ala397Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001048190]|not specified [RCV000501908] Chr19:46756640 [GRCh38]
Chr19:47259897 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1 copy number loss See cases [RCV000511362] Chr19:46404248..48488721 [GRCh37]
Chr19:19q13.32-13.33
likely pathogenic
NM_024301.5(FKRP):c.185C>T (p.Ala62Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000697777] Chr19:46755635 [GRCh38]
Chr19:47258892 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.608G>A (p.Arg203His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000697876] Chr19:46756058 [GRCh38]
Chr19:47259315 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1036T>C (p.Ser346Pro) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000576484] Chr19:46756486 [GRCh38]
Chr19:47259743 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.778G>T (p.Glu260Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669672] Chr19:46756228 [GRCh38]
Chr19:47259485 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.679G>C (p.Ala227Pro) single nucleotide variant Fukuyama congenital muscular dystrophy [RCV000495943] Chr19:46756129 [GRCh38]
Chr19:47259386 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.128C>G (p.Ser43Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000578007]|Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV000577932]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000578092]|Primary dilated cardiomyopathy [RCV000578009] Chr19:46755578 [GRCh38]
Chr19:47258835 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.210C>T (p.Phe70=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634082] Chr19:46755660 [GRCh38]
Chr19:47258917 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.597G>T (p.Val199=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634087] Chr19:46756047 [GRCh38]
Chr19:47259304 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.360C>T (p.Tyr120=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001078953]|not provided [RCV000840164] Chr19:46755810 [GRCh38]
Chr19:47259067 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.582G>C (p.Leu194=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634092] Chr19:46756032 [GRCh38]
Chr19:47259289 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.295G>A (p.Val99Met) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000531133] Chr19:46755745 [GRCh38]
Chr19:47259002 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.-272G>A single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000626047] Chr19:46746071 [GRCh38]
Chr19:47249328 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.446G>A (p.Arg149His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000536541] Chr19:46755896 [GRCh38]
Chr19:47259153 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1019A>T (p.Tyr340Phe) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273520]|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 [RCV000765455]|Walker-Warburg congenital muscular dystrophy [RCV000538732] Chr19:46756469 [GRCh38]
Chr19:47259726 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.948C>T (p.Pro316=) single nucleotide variant none provided [RCV001285338]|not specified [RCV000601536] Chr19:46756398 [GRCh38]
Chr19:47259655 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3 copy number gain See cases [RCV000511289] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic|uncertain significance
NM_024301.5(FKRP):c.77G>A (p.Trp26Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671994]|not provided [RCV000732483] Chr19:46755527 [GRCh38]
Chr19:47258784 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.912G>A (p.Thr304=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000538200] Chr19:46756362 [GRCh38]
Chr19:47259619 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.717C>T (p.Thr239=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000870090]|not specified [RCV000615173] Chr19:46756167 [GRCh38]
Chr19:47259424 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1224C>T (p.Ser408=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000866507]|not specified [RCV000609835] Chr19:46756674 [GRCh38]
Chr19:47259931 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-246A>G single nucleotide variant not specified [RCV000615425] Chr19:46748033 [GRCh38]
Chr19:47251290 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.823C>T (p.Arg275Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674695]|Walker-Warburg congenital muscular dystrophy [RCV000810990]|not provided [RCV000596371] Chr19:46756273 [GRCh38]
Chr19:47259530 [GRCh37]
Chr19:19q13.32
likely pathogenic|uncertain significance
NM_024301.5(FKRP):c.741G>A (p.Pro247=) single nucleotide variant not specified [RCV000602246] Chr19:46756191 [GRCh38]
Chr19:47259448 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888) copy number gain See cases [RCV000512296] Chr19:260912..58956888 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_024301.5(FKRP):c.-272_-270GGC[3] microsatellite not specified [RCV000608448] Chr19:46746071..46746076 [GRCh38]
Chr19:47249328..47249333 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1436A>G (p.Glu479Gly) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000530214] Chr19:46756886 [GRCh38]
Chr19:47260143 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.-30G>A single nucleotide variant not specified [RCV000608775] Chr19:46755421 [GRCh38]
Chr19:47258678 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-2C>A single nucleotide variant not specified [RCV000614519] Chr19:46755449 [GRCh38]
Chr19:47258706 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.66C>T (p.Phe22=) single nucleotide variant not specified [RCV000611830] Chr19:46755516 [GRCh38]
Chr19:47258773 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1317G>A (p.Val439=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000865345]|not specified [RCV000612001] Chr19:46756767 [GRCh38]
Chr19:47260024 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-253+5GGCCG[5] microsatellite not specified [RCV000604415] Chr19:46746094..46746095 [GRCh38]
Chr19:47249351..47249352 [GRCh37]
Chr19:19q13.32
benign
NM_024301.5(FKRP):c.-253+9G>A single nucleotide variant not specified [RCV000599755] Chr19:46746099 [GRCh38]
Chr19:47249356 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.336C>T (p.Ala112=) single nucleotide variant not provided [RCV000711661] Chr19:46755786 [GRCh38]
Chr19:47259043 [GRCh37]
Chr19:19q13.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_024301.5(FKRP):c.836G>C (p.Trp279Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634049] Chr19:46756286 [GRCh38]
Chr19:47259543 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.554C>T (p.Ala185Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634050] Chr19:46756004 [GRCh38]
Chr19:47259261 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.541C>A (p.Arg181Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275313]|Walker-Warburg congenital muscular dystrophy [RCV000634057] Chr19:46755991 [GRCh38]
Chr19:47259248 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.539C>A (p.Ala180Asp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634062] Chr19:46755989 [GRCh38]
Chr19:47259246 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.206C>T (p.Ser69Phe) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634063] Chr19:46755656 [GRCh38]
Chr19:47258913 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1141G>C (p.Ala381Pro) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634065] Chr19:46756591 [GRCh38]
Chr19:47259848 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.968G>A (p.Arg323His) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV000662004]|Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV001171504]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000662005]|Walker-Warburg congenital muscular dystrophy [RCV000634072] Chr19:46756418 [GRCh38]
Chr19:47259675 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1433T>C (p.Ile478Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671168]|Walker-Warburg congenital muscular dystrophy [RCV000634073]|not provided [RCV000731349] Chr19:46756883 [GRCh38]
Chr19:47260140 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic|uncertain significance
NM_024301.5(FKRP):c.740C>G (p.Pro247Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000634075] Chr19:46756190 [GRCh38]
Chr19:47259447 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.345_349del (p.Arg116fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000673440] Chr19:46755794..46755798 [GRCh38]
Chr19:47259051..47259055 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.-197C>T single nucleotide variant not specified [RCV000606703] Chr19:46748082 [GRCh38]
Chr19:47251339 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.52C>T (p.Leu18Phe) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001050758]|not provided [RCV000658156] Chr19:46755502 [GRCh38]
Chr19:47258759 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.526C>T (p.Arg176Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000672053] Chr19:46755976 [GRCh38]
Chr19:47259233 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.750G>A (p.Thr250=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275316]|Walker-Warburg congenital muscular dystrophy [RCV000698746] Chr19:46756200 [GRCh38]
Chr19:47259457 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.1475del (p.Thr492fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000672588] Chr19:46756925 [GRCh38]
Chr19:47260182 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671396] Chr19:46756834 [GRCh38]
Chr19:47260091 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1012G>T (p.Val338Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669472] Chr19:46756462 [GRCh38]
Chr19:47259719 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.859_869del (p.Phe287fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669569] Chr19:46756309..46756319 [GRCh38]
Chr19:47259566..47259576 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.278_283dup (p.Leu93_Pro94dup) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000669620] Chr19:46755724..46755725 [GRCh38]
Chr19:47258981..47258982 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1466T>G (p.Leu489Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671771]|Walker-Warburg congenital muscular dystrophy [RCV001222193]|not provided [RCV000996950] Chr19:46756916 [GRCh38]
Chr19:47260173 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.566_570dup (p.Cys191fs) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000668109] Chr19:46756012..46756013 [GRCh38]
Chr19:47259269..47259270 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.214C>T (p.Gln72Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671226] Chr19:46755664 [GRCh38]
Chr19:47258921 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.957_958GC[3] (p.Leu322fs) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674174] Chr19:46756407..46756408 [GRCh38]
Chr19:47259664..47259665 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.931G>T (p.Glu311Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665682] Chr19:46756381 [GRCh38]
Chr19:47259638 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1141dup (p.Ala381fs) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000672422]|Walker-Warburg congenital muscular dystrophy [RCV000688076] Chr19:46756585..46756586 [GRCh38]
Chr19:47259842..47259843 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.1201G>A (p.Asp401Asn) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665981] Chr19:46756651 [GRCh38]
Chr19:47259908 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.267delinsAT (p.Pro90fs) indel Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000667008] Chr19:46755717 [GRCh38]
Chr19:47258974 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.796del (p.Ala266fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000672793] Chr19:46756244 [GRCh38]
Chr19:47259501 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1208del (p.Phe403fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000667203] Chr19:46756654 [GRCh38]
Chr19:47259911 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1016G>A (p.Arg339His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674783]|not provided [RCV000735132] Chr19:46756466 [GRCh38]
Chr19:47259723 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.464del (p.Leu155fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671874] Chr19:46755914 [GRCh38]
Chr19:47259171 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1078G>C (p.Asp360His) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000668104] Chr19:46756528 [GRCh38]
Chr19:47259785 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1027G>T (p.Glu343Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000668106] Chr19:46756477 [GRCh38]
Chr19:47259734 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.558dup (p.Ala187fs) duplication Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000668168] Chr19:46756003..46756004 [GRCh38]
Chr19:47259260..47259261 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1415del (p.Lys472fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000671966] Chr19:46756864 [GRCh38]
Chr19:47260121 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.558_560CGC[3] (p.Ala188dup) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674605] Chr19:46756006..46756007 [GRCh38]
Chr19:47259263..47259264 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.502T>C (p.Cys168Arg) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000673672] Chr19:46755952 [GRCh38]
Chr19:47259209 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.928G>T (p.Glu310Ter) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665088]|Walker-Warburg congenital muscular dystrophy [RCV001055645]|not provided [RCV000760366] Chr19:46756378 [GRCh38]
Chr19:47259635 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.688_722del (p.Gly230fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674998] Chr19:46756131..46756165 [GRCh38]
Chr19:47259388..47259422 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1168_1169CG[1] (p.Gly391fs) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674951] Chr19:46756617..46756618 [GRCh38]
Chr19:47259874..47259875 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.540_541delinsTA (p.Arg181Ser) indel Walker-Warburg congenital muscular dystrophy [RCV000685132] Chr19:46755990..46755991 [GRCh38]
Chr19:47259247..47259248 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1119del (p.Asn374fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000674304] Chr19:46756569 [GRCh38]
Chr19:47259826 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.225_229AGCCC[3] (p.Val79fs) microsatellite Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000666517] Chr19:46755671..46755672 [GRCh38]
Chr19:47258928..47258929 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1418T>G (p.Phe473Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000664689] Chr19:46756868 [GRCh38]
Chr19:47260125 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.656del (p.Gly219fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665862] Chr19:46756104 [GRCh38]
Chr19:47259361 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.266C>T (p.Pro89Leu) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000665956]|Walker-Warburg congenital muscular dystrophy [RCV000700227] Chr19:46755716 [GRCh38]
Chr19:47258973 [GRCh37]
Chr19:19q13.32
pathogenic|likely pathogenic
NM_024301.5(FKRP):c.1363G>T (p.Ala455Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000700840] Chr19:46756813 [GRCh38]
Chr19:47260070 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1077_1078dup (p.Asp360fs) duplication Walker-Warburg congenital muscular dystrophy [RCV000704699] Chr19:46756525..46756526 [GRCh38]
Chr19:47259782..47259783 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.517G>A (p.Val173Ile) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272540]|Walker-Warburg congenital muscular dystrophy [RCV000809832]|not provided [RCV000711663] Chr19:46755967 [GRCh38]
Chr19:47259224 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.851T>C (p.Leu284Pro) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000702546] Chr19:46756301 [GRCh38]
Chr19:47259558 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.430A>G (p.Met144Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000700331] Chr19:46755880 [GRCh38]
Chr19:47259137 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1397G>A (p.Arg466His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000692318]|not provided [RCV000728230] Chr19:46756847 [GRCh38]
Chr19:47260104 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.706C>G (p.Leu236Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000692322] Chr19:46756156 [GRCh38]
Chr19:47259413 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1174T>A (p.Phe392Ile) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000692387] Chr19:46756624 [GRCh38]
Chr19:47259881 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.298C>T (p.Arg100Cys) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272538]|Walker-Warburg congenital muscular dystrophy [RCV000687283] Chr19:46755748 [GRCh38]
Chr19:47259005 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.291C>T (p.Pro97=) single nucleotide variant not provided [RCV000711660] Chr19:46755741 [GRCh38]
Chr19:47258998 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.601C>T (p.Leu201Phe) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000696827] Chr19:46756051 [GRCh38]
Chr19:47259308 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3 copy number gain not provided [RCV000752439] Chr19:68029..59110290 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3 copy number gain not provided [RCV000752444] Chr19:260912..59097160 [GRCh37]
Chr19:19p13.3-q13.43
pathogenic
NM_024301.5(FKRP):c.654G>A (p.Val218=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000871589] Chr19:46756104 [GRCh38]
Chr19:47259361 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.561C>G (p.Ala187=) single nucleotide variant not provided [RCV000940625] Chr19:46756011 [GRCh38]
Chr19:47259268 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1000G>A (p.Glu334Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001058108] Chr19:46756450 [GRCh38]
Chr19:47259707 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1364C>T (p.Ala455Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000985158] Chr19:46756814 [GRCh38]
Chr19:47260071 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1173C>T (p.Gly391=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000902837] Chr19:46756623 [GRCh38]
Chr19:47259880 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1167G>A (p.Glu389=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275319]|not provided [RCV000869518] Chr19:46756617 [GRCh38]
Chr19:47259874 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.1368C>T (p.Gly456=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275322]|not provided [RCV000905675] Chr19:46756818 [GRCh38]
Chr19:47260075 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.75G>A (p.Ser25=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000924152] Chr19:46755525 [GRCh38]
Chr19:47258782 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.168C>T (p.Phe56=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000970577] Chr19:46755618 [GRCh38]
Chr19:47258875 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.444C>T (p.Leu148=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000950911] Chr19:46755894 [GRCh38]
Chr19:47259151 [GRCh37]
Chr19:19q13.32
likely benign
GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3 copy number gain not provided [RCV001007050] Chr19:44738088..53621561 [GRCh37]
Chr19:19q13.31-13.42
pathogenic
NM_024301.5(FKRP):c.1057C>T (p.His353Tyr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001044432] Chr19:46756507 [GRCh38]
Chr19:47259764 [GRCh37]
Chr19:19q13.32
uncertain significance
NC_000019.10:g.(?_46605817)_(46756948_?)dup duplication Walker-Warburg congenital muscular dystrophy [RCV001031501] Chr19:47109074..47260205 [GRCh37]
Chr19:19q13.32
uncertain significance
NC_000019.10:g.(?_46755441)_(46756948_?)dup duplication Walker-Warburg congenital muscular dystrophy [RCV001032740] Chr19:47258698..47260205 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.316C>T (p.Pro106Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000809005] Chr19:46755766 [GRCh38]
Chr19:47259023 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536) copy number gain not provided [RCV000767770] Chr19:47036361..48525536 [GRCh37]
Chr19:19q13.32-13.33
pathogenic
NM_024301.5(FKRP):c.750G>T (p.Thr250=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000866075] Chr19:46756200 [GRCh38]
Chr19:47259457 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.9C>T (p.Leu3=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000886744] Chr19:46755459 [GRCh38]
Chr19:47258716 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1233C>T (p.Asn411=) single nucleotide variant not provided [RCV000931537] Chr19:46756683 [GRCh38]
Chr19:47259940 [GRCh37]
Chr19:19q13.32
likely benign
NM_013403.3(STRN4):c.30C>A (p.Val10=) single nucleotide variant not provided [RCV000962705] Chr19:46746401 [GRCh38]
Chr19:47249658 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1041G>A (p.Leu347=) single nucleotide variant not provided [RCV000906195] Chr19:46756491 [GRCh38]
Chr19:47259748 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.312C>T (p.Leu104=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000930255] Chr19:46755762 [GRCh38]
Chr19:47259019 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.345G>A (p.Ser115=) single nucleotide variant not provided [RCV000831419] Chr19:46755795 [GRCh38]
Chr19:47259052 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.526C>A (p.Arg176=) single nucleotide variant not provided [RCV000936106] Chr19:46755976 [GRCh38]
Chr19:47259233 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.-39-243A>G single nucleotide variant not provided [RCV000837949] Chr19:46755169 [GRCh38]
Chr19:47258426 [GRCh37]
Chr19:19q13.32
likely benign
NC_000019.10:g.(?_46755431)_(46756958_?)del deletion Walker-Warburg congenital muscular dystrophy [RCV000795432] Chr19:46755431..46756958 [GRCh38]
Chr19:47258688..47260215 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.68A>G (p.Tyr23Cys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000821581] Chr19:46755518 [GRCh38]
Chr19:47258775 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.111G>A (p.Arg37=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000937457] Chr19:46755561 [GRCh38]
Chr19:47258818 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.113G>A (p.Gly38Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000801890] Chr19:46755563 [GRCh38]
Chr19:47258820 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1266C>G (p.Pro422=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000871073] Chr19:46756716 [GRCh38]
Chr19:47259973 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.976G>A (p.Ala326Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001273519]|Walker-Warburg congenital muscular dystrophy [RCV000799009] Chr19:46756426 [GRCh38]
Chr19:47259683 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.933G>C (p.Glu311Asp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000813120] Chr19:46756383 [GRCh38]
Chr19:47259640 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.4C>T (p.Arg2Trp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000822659] Chr19:46755454 [GRCh38]
Chr19:47258711 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.375T>C (p.Phe125=) single nucleotide variant not provided [RCV000841962] Chr19:46755825 [GRCh38]
Chr19:47259082 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.640C>G (p.Leu214Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000808458] Chr19:46756090 [GRCh38]
Chr19:47259347 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.442C>A (p.Leu148Ile) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000805524] Chr19:46755892 [GRCh38]
Chr19:47259149 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.948del (p.Cys317fs) deletion Walker-Warburg congenital muscular dystrophy [RCV000822337] Chr19:46756393 [GRCh38]
Chr19:47259650 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.551C>T (p.Ala184Val) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001272541]|Walker-Warburg congenital muscular dystrophy [RCV000796018] Chr19:46756001 [GRCh38]
Chr19:47259258 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1296G>A (p.Trp432Ter) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000810942] Chr19:46756746 [GRCh38]
Chr19:47260003 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.477G>A (p.Pro159=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000793590] Chr19:46755927 [GRCh38]
Chr19:47259184 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.-206G>T single nucleotide variant not provided [RCV000840120] Chr19:46748073 [GRCh38]
Chr19:47251330 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1119C>A (p.Gly373=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275318]|Walker-Warburg congenital muscular dystrophy [RCV000863518] Chr19:46756569 [GRCh38]
Chr19:47259826 [GRCh37]
Chr19:19q13.32
likely benign|uncertain significance
NM_024301.5(FKRP):c.321C>T (p.Ala107=) single nucleotide variant not provided [RCV000897779] Chr19:46755771 [GRCh38]
Chr19:47259028 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.522C>T (p.Ser174=) single nucleotide variant not provided [RCV000941431] Chr19:46755972 [GRCh38]
Chr19:47259229 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1236C>G (p.His412Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000803628] Chr19:46756686 [GRCh38]
Chr19:47259943 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.386T>A (p.Val129Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000813998] Chr19:46755836 [GRCh38]
Chr19:47259093 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.972G>C (p.Glu324Asp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000823403] Chr19:46756422 [GRCh38]
Chr19:47259679 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1139G>A (p.Gly380Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000824079] Chr19:46756589 [GRCh38]
Chr19:47259846 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1000_1017dup (p.Glu334_Arg339dup) duplication not provided [RCV000991997] Chr19:46756449..46756450 [GRCh38]
Chr19:47259706..47259707 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1006_1174del (p.Ala336fs) deletion not provided [RCV000991998] Chr19:46756452..46756620 [GRCh38]
Chr19:47259709..47259877 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.1136G>C (p.Arg379Pro) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001056582] Chr19:46756586 [GRCh38]
Chr19:47259843 [GRCh37]
Chr19:19q13.32
uncertain significance
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3 copy number gain not provided [RCV000845733] Chr19:28271106..49213832 [GRCh37]
Chr19:19q11-13.33
pathogenic
GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3 copy number gain not provided [RCV001007051] Chr19:45531056..48174177 [GRCh37]
Chr19:19q13.32-13.33
uncertain significance
NM_024301.5(FKRP):c.794G>T (p.Arg265Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001053933] Chr19:46756244 [GRCh38]
Chr19:47259501 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1059C>A (p.His353Gln) single nucleotide variant not provided [RCV000996949] Chr19:46756509 [GRCh38]
Chr19:47259766 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.315G>T (p.Gln105His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001231603] Chr19:46755765 [GRCh38]
Chr19:47259022 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.677C>A (p.Thr226Asn) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001242001] Chr19:46756127 [GRCh38]
Chr19:47259384 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1075T>C (p.Trp359Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001225855] Chr19:46756525 [GRCh38]
Chr19:47259782 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1083C>G (p.Tyr361Ter) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001222642] Chr19:46756533 [GRCh38]
Chr19:47259790 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.106G>T (p.Ala36Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001241301] Chr19:46755556 [GRCh38]
Chr19:47258813 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1195G>A (p.Glu399Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001241623]|not provided [RCV001288179] Chr19:46756645 [GRCh38]
Chr19:47259902 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.777C>T (p.Arg259=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001240877] Chr19:46756227 [GRCh38]
Chr19:47259484 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1366G>A (p.Gly456Ser) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV001197701] Chr19:46756816 [GRCh38]
Chr19:47260073 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.478G>T (p.Val160Phe) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001247136] Chr19:46755928 [GRCh38]
Chr19:47259185 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1257C>T (p.Pro419=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000931564] Chr19:46756707 [GRCh38]
Chr19:47259964 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.18C>T (p.Cys6=) single nucleotide variant not provided [RCV000866322] Chr19:46755468 [GRCh38]
Chr19:47258725 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1008G>C (p.Ala336=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000875042] Chr19:46756458 [GRCh38]
Chr19:47259715 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.960_970del (p.Ala321fs) deletion Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV000855420] Chr19:46756407..46756417 [GRCh38]
Chr19:47259664..47259674 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.537C>G (p.Thr179=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000945567] Chr19:46755987 [GRCh38]
Chr19:47259244 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1386T>G (p.Pro462=) single nucleotide variant not provided [RCV000875164] Chr19:46756836 [GRCh38]
Chr19:47260093 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1320G>A (p.Glu440=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000931486] Chr19:46756770 [GRCh38]
Chr19:47260027 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.548G>A (p.Gly183Asp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001229708] Chr19:46755998 [GRCh38]
Chr19:47259255 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.780G>C (p.Glu260Asp) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001203338] Chr19:46756230 [GRCh38]
Chr19:47259487 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.633G>A (p.Ser211=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001226232] Chr19:46756083 [GRCh38]
Chr19:47259340 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.32C>T (p.Ala11Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001214515] Chr19:46755482 [GRCh38]
Chr19:47258739 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.394G>C (p.Gly132Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001243589] Chr19:46755844 [GRCh38]
Chr19:47259101 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.667T>G (p.Phe223Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001220477] Chr19:46756117 [GRCh38]
Chr19:47259374 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.206_208del (p.Ser69del) deletion Walker-Warburg congenital muscular dystrophy [RCV001209480] Chr19:46755654..46755656 [GRCh38]
Chr19:47258911..47258913 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.299G>A (p.Arg100His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001241329] Chr19:46755749 [GRCh38]
Chr19:47259006 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.83A>G (p.Gln28Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001241408] Chr19:46755533 [GRCh38]
Chr19:47258790 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.576C>T (p.Asp192=) single nucleotide variant not provided [RCV000934077] Chr19:46756026 [GRCh38]
Chr19:47259283 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1465C>T (p.Leu489=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV000934492] Chr19:46756915 [GRCh38]
Chr19:47260172 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.172G>A (p.Ala58Thr) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001279352]|Walker-Warburg congenital muscular dystrophy [RCV001056388] Chr19:46755622 [GRCh38]
Chr19:47258879 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.763T>A (p.Trp255Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001065504] Chr19:46756213 [GRCh38]
Chr19:47259470 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.883C>G (p.Arg295Gly) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001175208] Chr19:46756333 [GRCh38]
Chr19:47259590 [GRCh37]
Chr19:19q13.32
likely pathogenic
NM_024301.5(FKRP):c.169G>T (p.Glu57Ter) single nucleotide variant not provided [RCV001093244] Chr19:46755619 [GRCh38]
Chr19:47258876 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1309C>A (p.Gln437Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001056583] Chr19:46756759 [GRCh38]
Chr19:47260016 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.155T>A (p.Leu52Gln) single nucleotide variant not specified [RCV001175096] Chr19:46755605 [GRCh38]
Chr19:47258862 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.838G>A (p.Glu280Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001059045] Chr19:46756288 [GRCh38]
Chr19:47259545 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.745G>A (p.Ala249Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001208376] Chr19:46756195 [GRCh38]
Chr19:47259452 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.125C>G (p.Ala42Gly) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001048305] Chr19:46755575 [GRCh38]
Chr19:47258832 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1271A>G (p.Asn424Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001233600] Chr19:46756721 [GRCh38]
Chr19:47259978 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1113C>A (p.Asp371Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001212787] Chr19:46756563 [GRCh38]
Chr19:47259820 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1358C>T (p.Pro453Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001050066] Chr19:46756808 [GRCh38]
Chr19:47260065 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.178G>T (p.Asp60Tyr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001035053] Chr19:46755628 [GRCh38]
Chr19:47258885 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.592G>A (p.Ala198Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001216873] Chr19:46756042 [GRCh38]
Chr19:47259299 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1238del (p.Leu413fs) deletion Walker-Warburg congenital muscular dystrophy [RCV001233304] Chr19:46756687 [GRCh38]
Chr19:47259944 [GRCh37]
Chr19:19q13.32
pathogenic
NM_024301.5(FKRP):c.1429G>A (p.Val477Ile) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001248210] Chr19:46756879 [GRCh38]
Chr19:47260136 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.427C>T (p.Arg143Cys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001217857] Chr19:46755877 [GRCh38]
Chr19:47259134 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1141G>T (p.Ala381Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001066020] Chr19:46756591 [GRCh38]
Chr19:47259848 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.569G>A (p.Arg190His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001202297] Chr19:46756019 [GRCh38]
Chr19:47259276 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.725C>T (p.Ala242Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001247009] Chr19:46756175 [GRCh38]
Chr19:47259432 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1427G>A (p.Gly476Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001205826] Chr19:46756877 [GRCh38]
Chr19:47260134 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1475C>T (p.Thr492Met) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001038737] Chr19:46756925 [GRCh38]
Chr19:47260182 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.323T>C (p.Leu108Pro) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001336095]|Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001275309]|Walker-Warburg congenital muscular dystrophy [RCV001063677] Chr19:46755773 [GRCh38]
Chr19:47259030 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.59T>C (p.Val20Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001246809] Chr19:46755509 [GRCh38]
Chr19:47258766 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.943C>G (p.Pro315Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001246818] Chr19:46756393 [GRCh38]
Chr19:47259650 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.491A>G (p.Asn164Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001064007] Chr19:46755941 [GRCh38]
Chr19:47259198 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1211G>A (p.Arg404His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001229464] Chr19:46756661 [GRCh38]
Chr19:47259918 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.962C>A (p.Ala321Glu) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5 [RCV001196908] Chr19:46756412 [GRCh38]
Chr19:47259669 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.245C>T (p.Ala82Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001302946] Chr19:46755695 [GRCh38]
Chr19:47258952 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.688G>A (p.Gly230Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001349818] Chr19:46756138 [GRCh38]
Chr19:47259395 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.527G>A (p.Arg176Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001297833] Chr19:46755977 [GRCh38]
Chr19:47259234 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.472G>A (p.Ala158Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001325253] Chr19:46755922 [GRCh38]
Chr19:47259179 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.274G>T (p.Ala92Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001350541] Chr19:46755724 [GRCh38]
Chr19:47258981 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.809G>A (p.Arg270His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001308238] Chr19:46756259 [GRCh38]
Chr19:47259516 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1117G>A (p.Gly373Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001340070] Chr19:46756567 [GRCh38]
Chr19:47259824 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1307G>A (p.Arg436Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001318663] Chr19:46756757 [GRCh38]
Chr19:47260014 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.44C>T (p.Thr15Ile) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001309029] Chr19:46755494 [GRCh38]
Chr19:47258751 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.236TGG[2] (p.Val81del) microsatellite Walker-Warburg congenital muscular dystrophy [RCV001352553] Chr19:46755685..46755687 [GRCh38]
Chr19:47258942..47258944 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1240C>A (p.His414Asn) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001343686] Chr19:46756690 [GRCh38]
Chr19:47259947 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.794G>A (p.Arg265Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001295123] Chr19:46756244 [GRCh38]
Chr19:47259501 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.920A>G (p.Tyr307Cys) single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001329321] Chr19:46756370 [GRCh38]
Chr19:47259627 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1411C>G (p.Leu471Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001325148] Chr19:46756861 [GRCh38]
Chr19:47260118 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1088T>C (p.Val363Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001340776] Chr19:46756538 [GRCh38]
Chr19:47259795 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1482C>A (p.Ser494Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001313163] Chr19:46756932 [GRCh38]
Chr19:47260189 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.975C>T (p.Thr325=) single nucleotide variant not provided [RCV001311540] Chr19:46756425 [GRCh38]
Chr19:47259682 [GRCh37]
Chr19:19q13.32
likely benign
NM_024301.5(FKRP):c.1051G>A (p.Ala351Thr) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001339166] Chr19:46756501 [GRCh38]
Chr19:47259758 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.347G>T (p.Arg116Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001308102] Chr19:46755797 [GRCh38]
Chr19:47259054 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.77G>T (p.Trp26Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001313796] Chr19:46755527 [GRCh38]
Chr19:47258784 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.893G>C (p.Gly298Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001325181] Chr19:46756343 [GRCh38]
Chr19:47259600 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.403G>T (p.Ala135Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001327150] Chr19:46755853 [GRCh38]
Chr19:47259110 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.324G>A (p.Leu108=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001339041] Chr19:46755774 [GRCh38]
Chr19:47259031 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.371A>G (p.Glu124Gly) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001323816] Chr19:46755821 [GRCh38]
Chr19:47259078 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.635C>T (p.Ala212Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001343504] Chr19:46756085 [GRCh38]
Chr19:47259342 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.616G>A (p.Asp206Asn) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001321618] Chr19:46756066 [GRCh38]
Chr19:47259323 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1407G>A (p.Leu469=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001323945] Chr19:46756857 [GRCh38]
Chr19:47260114 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.805C>T (p.Leu269Phe) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001325406] Chr19:46756255 [GRCh38]
Chr19:47259512 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.755A>T (p.His252Leu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001307543] Chr19:46756205 [GRCh38]
Chr19:47259462 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.797C>T (p.Ala266Val) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001345994] Chr19:46756247 [GRCh38]
Chr19:47259504 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.-253+4A>G single nucleotide variant Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5 [RCV001330167] Chr19:46746094 [GRCh38]
Chr19:47249351 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.849G>A (p.Arg283=) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001279355] Chr19:46756299 [GRCh38]
Chr19:47259556 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.976G>T (p.Ala326Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001298301] Chr19:46756426 [GRCh38]
Chr19:47259683 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.395G>C (p.Gly132Ala) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001279353] Chr19:46755845 [GRCh38]
Chr19:47259102 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.970G>C (p.Glu324Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001342674] Chr19:46756420 [GRCh38]
Chr19:47259677 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.761G>A (p.Arg254His) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001345204] Chr19:46756211 [GRCh38]
Chr19:47259468 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.142C>A (p.Arg48Ser) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001320835] Chr19:46755592 [GRCh38]
Chr19:47258849 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.305C>A (p.Ala102Glu) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001347810] Chr19:46755755 [GRCh38]
Chr19:47259012 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.104G>A (p.Arg35Gln) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001347816] Chr19:46755554 [GRCh38]
Chr19:47258811 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.273G>A (p.Leu91=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001347817] Chr19:46755723 [GRCh38]
Chr19:47258980 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.641T>G (p.Leu214Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001317241] Chr19:46756091 [GRCh38]
Chr19:47259348 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.205T>C (p.Ser69Pro) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001295759] Chr19:46755655 [GRCh38]
Chr19:47258912 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.135C>A (p.Ala45=) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001308388] Chr19:46755585 [GRCh38]
Chr19:47258842 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.781G>C (p.Gly261Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001325502] Chr19:46756231 [GRCh38]
Chr19:47259488 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1477G>A (p.Gly493Arg) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001325619] Chr19:46756927 [GRCh38]
Chr19:47260184 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.1183G>A (p.Glu395Lys) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001340862] Chr19:46756633 [GRCh38]
Chr19:47259890 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.545A>C (p.Tyr182Ser) single nucleotide variant Limb-girdle muscular dystrophy-dystroglycanopathy, type C5 [RCV001279354] Chr19:46755995 [GRCh38]
Chr19:47259252 [GRCh37]
Chr19:19q13.32
uncertain significance
NM_024301.5(FKRP):c.946C>G (p.Pro316Ala) single nucleotide variant Walker-Warburg congenital muscular dystrophy [RCV001327126] Chr19:46756396 [GRCh38]
Chr19:47259653 [GRCh37]
Chr19:19q13.32
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17997 AgrOrtholog
COSMIC FKRP COSMIC
Ensembl Genes ENSG00000181027 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000326570 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000375776 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000468825 UniProtKB/TrEMBL
  ENSP00000469373 UniProtKB/TrEMBL
  ENSP00000470024 UniProtKB/TrEMBL
  ENSP00000470096 UniProtKB/TrEMBL
  ENSP00000470103 UniProtKB/TrEMBL
  ENSP00000470297 UniProtKB/TrEMBL
  ENSP00000470335 UniProtKB/TrEMBL
  ENSP00000470901 UniProtKB/TrEMBL
  ENSP00000470929 UniProtKB/TrEMBL
  ENSP00000471088 UniProtKB/TrEMBL
  ENSP00000471209 UniProtKB/TrEMBL
  ENSP00000471573 UniProtKB/TrEMBL
  ENSP00000471971 UniProtKB/TrEMBL
  ENSP00000472370 UniProtKB/TrEMBL
  ENSP00000472807 UniProtKB/TrEMBL
  ENSP00000472981 UniProtKB/TrEMBL
Ensembl Transcript ENST00000318584 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000391909 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000593800 UniProtKB/TrEMBL
  ENST00000593875 UniProtKB/TrEMBL
  ENST00000593902 UniProtKB/TrEMBL
  ENST00000594467 UniProtKB/TrEMBL
  ENST00000595570 UniProtKB/TrEMBL
  ENST00000595868 UniProtKB/TrEMBL
  ENST00000596460 UniProtKB/TrEMBL
  ENST00000597313 UniProtKB/TrEMBL
  ENST00000598271 UniProtKB/TrEMBL
  ENST00000600005 UniProtKB/TrEMBL
  ENST00000600227 UniProtKB/TrEMBL
  ENST00000600629 UniProtKB/TrEMBL
  ENST00000600834 UniProtKB/TrEMBL
  ENST00000601299 UniProtKB/TrEMBL
  ENST00000602181 UniProtKB/TrEMBL
  ENST00000602250 UniProtKB/TrEMBL
GTEx ENSG00000181027 GTEx
HGNC ID HGNC:17997 ENTREZGENE
Human Proteome Map FKRP Human Proteome Map
InterPro LicD_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:79147 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 79147 ENTREZGENE
OMIM 606596 OMIM
  606612 OMIM
  607155 OMIM
  613153 OMIM
Pfam LicD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134976709 PharmGKB
UniProt A0A024R0R7 ENTREZGENE, UniProtKB/TrEMBL
  FKRP_HUMAN UniProtKB/Swiss-Prot
  M0QX03_HUMAN UniProtKB/TrEMBL
  M0QXT8_HUMAN UniProtKB/TrEMBL
  M0QYR2_HUMAN UniProtKB/TrEMBL
  M0QYV4_HUMAN UniProtKB/TrEMBL
  M0QYV8_HUMAN UniProtKB/TrEMBL
  M0QZ46_HUMAN UniProtKB/TrEMBL
  M0QZ68_HUMAN UniProtKB/TrEMBL
  M0R005_HUMAN UniProtKB/TrEMBL
  M0R016_HUMAN UniProtKB/TrEMBL
  M0R092_HUMAN UniProtKB/TrEMBL
  M0R0G0_HUMAN UniProtKB/TrEMBL
  M0R112_HUMAN UniProtKB/TrEMBL
  M0R1M1_HUMAN UniProtKB/TrEMBL
  M0R274_HUMAN UniProtKB/TrEMBL
  M0R2U3_HUMAN UniProtKB/TrEMBL
  M0R342_HUMAN UniProtKB/TrEMBL
  Q9H9S5 ENTREZGENE
UniProt Secondary A8K5G7 UniProtKB/Swiss-Prot