MYOT (myotilin) - Rat Genome Database

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Gene: MYOT (myotilin) Homo sapiens
Analyze
Symbol: MYOT
Name: myotilin
RGD ID: 1321551
HGNC Page HGNC:12399
Description: Enables alpha-actinin binding activity. Predicted to be involved in homophilic cell adhesion via plasma membrane adhesion molecules and synapse organization. Located in Z disc. Implicated in muscular dystrophy and myofibrillar myopathy 3.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 57 kDa cytoskeletal protein; LGMD1; LGMD1A; limb-girdle muscular dystrophy 1A (autosomal dominant); MFM3; myofibrillar titin-like Ig domains protein; titin immunoglobulin domain protein (myotilin); TTID; TTOD
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
GRCh385137,867,860 - 137,887,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5137,867,858 - 137,887,851 (+)EnsemblGRCh38hg38GRCh38
GRCh375137,203,549 - 137,223,540 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365137,231,473 - 137,251,440 (+)NCBINCBI36Build 36hg18NCBI36
Build 345137,231,472 - 137,251,440NCBI
Celera5133,325,839 - 133,345,837 (+)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5132,395,358 - 132,415,358 (+)NCBIHuRef
CHM1_15136,636,150 - 136,656,170 (+)NCBICHM1_1
T2T-CHM13v2.05138,394,286 - 138,414,287 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
actin cytoskeleton  (TAS)
axon  (IBA,IEA)
cytoplasm  (IEA)
cytoskeleton  (IEA)
membrane  (IEA)
neuronal cell body  (IBA)
plasma membrane  (IBA,IEA)
sarcolemma  (IEA)
Z disc  (IDA,IEA,IMP)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal muscle fiber myotilin  (IAGP)
Abnormal respiratory system physiology  (IAGP)
Achilles tendon contracture  (IAGP)
Adult onset  (IAGP)
Areflexia  (IAGP)
Autophagic vacuoles  (IAGP)
Autosomal dominant inheritance  (IAGP)
Cardiomyopathy  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Congestive heart failure  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty standing  (IAGP)
Difficulty walking  (IAGP)
Distal amyotrophy  (IAGP)
Distal lower limb muscle weakness  (IAGP)
Distal muscle weakness  (IAGP)
Dysarthria  (IAGP)
Dysphagia  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Facial hypotonia  (IAGP)
Fatty replacement of skeletal muscle  (IAGP)
Foot dorsiflexor weakness  (IAGP)
Hip flexor weakness  (IAGP)
Hypernasal speech  (IAGP)
Hyporeflexia  (IAGP)
Hyporeflexia of lower limbs  (IAGP)
Inability to walk  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Limited elbow flexion  (IAGP)
Limited knee flexion/extension  (IAGP)
Loss of ability to walk in first decade  (IAGP)
Lower limb pain  (IAGP)
Multiple joint contractures  (IAGP)
Muscle fiber cytoplasmatic inclusion bodies  (IAGP)
Muscle fiber inclusion bodies  (IAGP)
Muscle fiber splitting  (IAGP)
Muscle stiffness  (IAGP)
Muscle weakness  (IAGP)
Myalgia  (IAGP)
Myofibrillar myopathy  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Peripheral neuropathy  (IAGP)
Polyneuropathy  (IAGP)
Progressive distal muscle weakness  (IAGP)
Progressive proximal muscle weakness  (IAGP)
Prostate cancer  (IAGP)
Proximal muscle weakness  (IAGP)
Reduced maximal inspiratory pressure  (IAGP)
Reduced vital capacity  (IAGP)
Respiratory failure  (IAGP)
Respiratory insufficiency  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Slowly progressive  (IAGP)
Urinary bladder sphincter dysfunction  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hauser MA, etal., Hum Mol Genet. 2000 Sep 1;9(14):2141-7.
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:1598902   PMID:1676560   PMID:9828127   PMID:10369880   PMID:10486214   PMID:11038172   PMID:12428213   PMID:12477932   PMID:12499399   PMID:12809483   PMID:15111675   PMID:15489334  
PMID:15967462   PMID:16076904   PMID:16122733   PMID:16344560   PMID:16380616   PMID:16674563   PMID:16793270   PMID:16801328   PMID:17698502   PMID:18157088   PMID:19027924   PMID:19047374  
PMID:19151983   PMID:19418025   PMID:19458539   PMID:19913121   PMID:20301582   PMID:20301672   PMID:20628086   PMID:21244100   PMID:21361873   PMID:21832049   PMID:21873635   PMID:21988832  
PMID:23284306   PMID:23414517   PMID:23583979   PMID:24928145   PMID:25416956   PMID:26871637   PMID:27107014   PMID:27854214   PMID:28638118   PMID:29872149   PMID:32296183   PMID:36776921  
PMID:37511242   PMID:37553249  


Genomics

Comparative Map Data
MYOT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh385137,867,860 - 137,887,851 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl5137,867,858 - 137,887,851 (+)EnsemblGRCh38hg38GRCh38
GRCh375137,203,549 - 137,223,540 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 365137,231,473 - 137,251,440 (+)NCBINCBI36Build 36hg18NCBI36
Build 345137,231,472 - 137,251,440NCBI
Celera5133,325,839 - 133,345,837 (+)NCBICelera
Cytogenetic Map5q31.2NCBI
HuRef5132,395,358 - 132,415,358 (+)NCBIHuRef
CHM1_15136,636,150 - 136,656,170 (+)NCBICHM1_1
T2T-CHM13v2.05138,394,286 - 138,414,287 (+)NCBIT2T-CHM13v2.0
Myot
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391844,467,126 - 44,488,795 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1844,467,141 - 44,488,791 (+)EnsemblGRCm39 Ensembl
GRCm381844,334,053 - 44,355,740 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1844,334,074 - 44,355,724 (+)EnsemblGRCm38mm10GRCm38
MGSCv371844,493,728 - 44,515,376 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361844,459,405 - 44,481,053 (+)NCBIMGSCv36mm8
Celera1845,713,780 - 45,735,414 (+)NCBICelera
Cytogenetic Map18B3NCBI
cM Map1823.74NCBI
Myot
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81836,956,119 - 36,975,728 (+)NCBIGRCr8
mRatBN7.21836,705,244 - 36,724,849 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1836,705,314 - 36,724,841 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1836,809,300 - 36,828,821 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01837,527,651 - 37,547,177 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01836,904,570 - 36,924,088 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01835,573,978 - 35,593,541 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1835,574,002 - 35,593,541 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl937,727,942 - 37,747,514 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01835,239,617 - 35,259,164 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41838,004,000 - 38,023,531 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Cytogenetic Map18q11NCBI
Myot
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540832,790,095 - 32,838,258 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540832,816,133 - 32,835,230 (+)NCBIChiLan1.0ChiLan1.0
MYOT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v24133,143,300 - 133,170,336 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan15131,282,853 - 131,309,897 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v05133,254,644 - 133,274,615 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.15139,386,101 - 139,411,960 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl5139,386,101 - 139,411,960 (+)Ensemblpanpan1.1panPan2
MYOT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11125,574,087 - 25,592,767 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1125,564,136 - 25,592,339 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1124,338,045 - 24,356,731 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01126,424,036 - 26,442,735 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1126,424,113 - 26,442,730 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11125,131,713 - 25,150,406 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01124,955,437 - 24,974,114 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01125,618,123 - 25,636,808 (+)NCBIUU_Cfam_GSD_1.0
Myot
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213125,805,178 - 125,822,515 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365974,830,027 - 4,847,421 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365974,830,111 - 4,847,409 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
MYOT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl2139,861,004 - 139,919,089 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.12139,899,245 - 139,919,095 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.22145,621,343 - 145,642,087 (+)NCBISscrofa10.2Sscrofa10.2susScr3
MYOT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12340,542,153 - 40,567,873 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2340,548,100 - 40,568,217 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603437,323,439 - 37,340,122 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Myot
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247339,130,399 - 9,160,908 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247339,131,051 - 9,160,813 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in MYOT
322 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006790.3(MYOT):c.98G>T (p.Ser33Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV000526830] Chr5:137870749 [GRCh38]
Chr5:137206438 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.17G>A (p.Arg6His) single nucleotide variant Myofibrillar myopathy 3 [RCV000023360]|not provided [RCV001588824] Chr5:137870668 [GRCh38]
Chr5:137206357 [GRCh37]
Chr5:5q31.2
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.170C>T (p.Thr57Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV000639976]|not provided [RCV000424803] Chr5:137870821 [GRCh38]
Chr5:137206510 [GRCh37]
Chr5:5q31.2
pathogenic
NM_006790.3(MYOT):c.164C>T (p.Ser55Phe) single nucleotide variant Myofibrillar myopathy 3 [RCV000794536]|Progressive distal muscle weakness [RCV000414759]|Urinary bladder sphincter dysfunction [RCV000626902]|not provided [RCV001091589] Chr5:137870815 [GRCh38]
Chr5:137206504 [GRCh37]
Chr5:5q31.2
pathogenic|likely pathogenic
NM_006790.3(MYOT):c.179C>G (p.Ser60Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV000006193]|Myofibrillar myopathy [RCV000239643]|not provided [RCV000725007] Chr5:137870830 [GRCh38]
Chr5:137206519 [GRCh37]
Chr5:5q31.2
pathogenic
NM_006790.3(MYOT):c.179C>T (p.Ser60Phe) single nucleotide variant MYOT-related condition [RCV003415664]|Myofibrillar myopathy 3 [RCV000006194]|not provided [RCV000725464] Chr5:137870830 [GRCh38]
Chr5:137206519 [GRCh37]
Chr5:5q31.2
pathogenic|likely pathogenic
NM_006790.3(MYOT):c.284G>T (p.Ser95Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV000006195] Chr5:137870935 [GRCh38]
Chr5:137206624 [GRCh37]
Chr5:5q31.2
pathogenic
NM_006790.3(MYOT):c.116C>T (p.Ser39Phe) single nucleotide variant Myofibrillar myopathy 3 [RCV002512824]|not provided [RCV000516381] Chr5:137870767 [GRCh38]
Chr5:137206456 [GRCh37]
Chr5:5q31.2
pathogenic|likely pathogenic
NM_006790.3(MYOT):c.372del (p.Ala125fs) deletion Myofibrillar myopathy 3 [RCV000543818]|not provided [RCV003133313] Chr5:137875844 [GRCh38]
Chr5:137211533 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.808G>C (p.Asp270His) single nucleotide variant Myofibrillar myopathy 3 [RCV002536430]|not provided [RCV000729505] Chr5:137882097 [GRCh38]
Chr5:137217786 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3 copy number gain See cases [RCV000051193] Chr5:130860928..155321811 [GRCh38]
Chr5:130196621..154701371 [GRCh37]
Chr5:130224520..154681564 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
GRCh38/hg38 5q31.1-31.2(chr5:133401565-138437038)x1 copy number loss See cases [RCV000052114] Chr5:133401565..138437038 [GRCh38]
Chr5:132737257..137772727 [GRCh37]
Chr5:132765156..137800626 [NCBI36]
Chr5:5q31.1-31.2
pathogenic
GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1 copy number loss See cases [RCV000053524] Chr5:106619588..156124387 [GRCh38]
Chr5:105955289..155551397 [GRCh37]
Chr5:105983188..155483975 [NCBI36]
Chr5:5q21.3-33.2
pathogenic
NM_006790.3(MYOT):c.122T>C (p.Ile41Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV001854569]|not provided [RCV000117696] Chr5:137870773 [GRCh38]
Chr5:137206462 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.107_110del (p.Lys36fs) deletion Myofibrillar myopathy 3 [RCV002513830]|not provided [RCV000389897] Chr5:137870756..137870759 [GRCh38]
Chr5:137206445..137206448 [GRCh37]
Chr5:5q31.2
pathogenic|uncertain significance
NM_006790.3(MYOT):c.1190+7T>C single nucleotide variant Myofibrillar myopathy 3 [RCV000541018]|not specified [RCV000081462] Chr5:137886220 [GRCh38]
Chr5:137221909 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.120T>A (p.Ile40=) single nucleotide variant Myofibrillar myopathy 3 [RCV001089171]|not provided [RCV000723630]|not specified [RCV003330427] Chr5:137870771 [GRCh38]
Chr5:137206460 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.343G>A (p.Ala115Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV001086003]|not provided [RCV000757546]|not specified [RCV000081464] Chr5:137870994 [GRCh38]
Chr5:137206683 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.445G>C (p.Glu149Gln) single nucleotide variant Heart failure [RCV000852992]|Myofibrillar myopathy 3 [RCV000549314]|not provided [RCV001719841]|not specified [RCV000249839] Chr5:137875917 [GRCh38]
Chr5:137211606 [GRCh37]
Chr5:5q31.2
benign|likely benign|uncertain significance
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000289054]|Myofibrillar Myopathy, Dominant [RCV000383375]|Myofibrillar myopathy 3 [RCV000639982]|not provided [RCV001704002]|not specified [RCV000081466] Chr5:137877605 [GRCh38]
Chr5:137213294 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.149A>G (p.Gln50Arg) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000345696]|Myofibrillar myopathy 3 [RCV000576436]|not provided [RCV001795171]|not specified [RCV000117697] Chr5:137870800 [GRCh38]
Chr5:137206489 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_006790.3(MYOT):c.780G>A (p.Ser260=) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000340638]|Myofibrillar myopathy 3 [RCV000576640]|not provided [RCV001811974]|not specified [RCV000117698] Chr5:137882069 [GRCh38]
Chr5:137217758 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.1397T>G (p.Leu466Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV003313003] Chr5:137887285 [GRCh38]
Chr5:137222974 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1008G>T (p.Val336=) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000330327]|Myofibrillar Myopathy, Dominant [RCV000366367]|Myofibrillar myopathy 3 [RCV000528295]|not provided [RCV001727618]|not specified [RCV000179926] Chr5:137883575 [GRCh38]
Chr5:137219264 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.686G>T (p.Ser229Ile) single nucleotide variant Malignant tumor of prostate [RCV000149187] Chr5:137881975 [GRCh38]
Chr5:137217664 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1442G>A (p.Gly481Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV001348614] Chr5:137887330 [GRCh38]
Chr5:137223019 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh38/hg38 5q31.1-31.3(chr5:135297294-140106003)x3 copy number gain See cases [RCV000133750] Chr5:135297294..140106003 [GRCh38]
Chr5:134632984..139485588 [GRCh37]
Chr5:134660883..139465772 [NCBI36]
Chr5:5q31.1-31.3
pathogenic
GRCh38/hg38 5q31.2-31.3(chr5:137836682-140696361)x3 copy number gain See cases [RCV000134725] Chr5:137836682..140696361 [GRCh38]
Chr5:137172371..140075946 [GRCh37]
Chr5:137200270..140056130 [NCBI36]
Chr5:5q31.2-31.3
pathogenic
GRCh38/hg38 5q23.3-33.2(chr5:129847794-153353546)x3 copy number gain See cases [RCV000138808] Chr5:129847794..153353546 [GRCh38]
Chr5:129183487..152733106 [GRCh37]
Chr5:129211386..152713299 [NCBI36]
Chr5:5q23.3-33.2
pathogenic
NM_006790.3(MYOT):c.220= (p.Gln74=) single nucleotide variant Myofibrillar myopathy 3 [RCV000987603]|not provided [RCV001636695]|not specified [RCV000153527] Chr5:137870871 [GRCh38]
Chr5:137206560 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000378013]|Myofibrillar Myopathy, Dominant [RCV000323304]|Myofibrillar myopathy 3 [RCV001437646]|not provided [RCV000723809] Chr5:137886876 [GRCh38]
Chr5:137222565 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) single nucleotide variant Inborn genetic diseases [RCV002516082]|Myofibrillar myopathy 3 [RCV001088448]|not provided [RCV000153529] Chr5:137887327 [GRCh38]
Chr5:137223016 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.981T>C (p.Asn327=) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000297152]|Myofibrillar Myopathy, Dominant [RCV000407175]|Myofibrillar myopathy 3 [RCV000550832]|not provided [RCV001704856]|not specified [RCV000244276] Chr5:137883548 [GRCh38]
Chr5:137219237 [GRCh37]
Chr5:5q31.2
benign|likely benign|uncertain significance
NM_006790.3(MYOT):c.1152A>G (p.Arg384=) single nucleotide variant Myofibrillar myopathy 3 [RCV001449191]|not provided [RCV000180304] Chr5:137886175 [GRCh38]
Chr5:137221864 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.1265C>T (p.Thr422Ile) single nucleotide variant not provided [RCV000180634] Chr5:137886938 [GRCh38]
Chr5:137222627 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.335T>A (p.Ile112Asn) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000262153]|Myofibrillar Myopathy, Dominant [RCV000302323]|Myofibrillar myopathy 3 [RCV001246839] Chr5:137870986 [GRCh38]
Chr5:137206675 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000402251]|MYOT-related condition [RCV003417907]|Myofibrillar Myopathy, Dominant [RCV000335309]|Myofibrillar myopathy 3 [RCV000639970]|not provided [RCV000295763]|not specified [RCV003323496] Chr5:137886959 [GRCh38]
Chr5:137222648 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) single nucleotide variant Heart failure [RCV000852990]|Inborn genetic diseases [RCV002519080]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000360760]|Myofibrillar Myopathy, Dominant [RCV000306075]|Myofibrillar myopathy 3 [RCV001085861]|not provided [RCV000381509] Chr5:137870974 [GRCh38]
Chr5:137206663 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.314C>T (p.Pro105Leu) single nucleotide variant not specified [RCV000227195] Chr5:137870965 [GRCh38]
Chr5:137206654 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1025-41dup duplication not specified [RCV000250952] Chr5:137886001..137886002 [GRCh38]
Chr5:137221690..137221691 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.642C>T (p.Asn214=) single nucleotide variant Myofibrillar myopathy 3 [RCV001494190] Chr5:137880824 [GRCh38]
Chr5:137216513 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.*418T>C single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000373176]|Myofibrillar Myopathy, Dominant [RCV000318551]|Myofibrillar myopathy 3 [RCV001151708] Chr5:137887803 [GRCh38]
Chr5:137223492 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.*190C>G single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000282216]|Myofibrillar myopathy 3 [RCV000376796]|not provided [RCV001718755] Chr5:137887575 [GRCh38]
Chr5:137223264 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_006790.3(MYOT):c.571G>C (p.Gly191Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV000639979]|not specified [RCV000241609] Chr5:137877559 [GRCh38]
Chr5:137213248 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.-251A>G single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000383989]|Myofibrillar myopathy 3 [RCV000269425]|not provided [RCV001643065] Chr5:137867914 [GRCh38]
Chr5:137203603 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_006790.3(MYOT):c.816+30A>G single nucleotide variant not specified [RCV000246918] Chr5:137882135 [GRCh38]
Chr5:137217824 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.*98G>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000270937]|Myofibrillar myopathy 3 [RCV000365421]|not provided [RCV001718754] Chr5:137887483 [GRCh38]
Chr5:137223172 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.630G>A (p.Ser210=) single nucleotide variant Myofibrillar myopathy 3 [RCV000872884]|not provided [RCV001582866]|not specified [RCV000247228] Chr5:137877618 [GRCh38]
Chr5:137213307 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.822T>C (p.Ser274=) single nucleotide variant Myofibrillar myopathy 3 [RCV001088508]|not provided [RCV000712369]|not specified [RCV000252494] Chr5:137883389 [GRCh38]
Chr5:137219078 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.634-15T>C single nucleotide variant Myofibrillar myopathy 3 [RCV002058215]|not specified [RCV000250367] Chr5:137880801 [GRCh38]
Chr5:137216490 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.1190+12A>G single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000326650]|Myofibrillar Myopathy, Dominant [RCV000271634]|Myofibrillar myopathy 3 [RCV001254012]|not specified [RCV000609892] Chr5:137886225 [GRCh38]
Chr5:137221914 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) single nucleotide variant Inborn genetic diseases [RCV002523506]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000317621]|Myofibrillar Myopathy, Dominant [RCV000372249]|Myofibrillar myopathy 3 [RCV000875382]|not provided [RCV003133241]|not specified [RCV000598161] Chr5:137870994 [GRCh38]
Chr5:137206683 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.-233C>A single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000330569]|Myofibrillar Myopathy, Dominant [RCV000387511]|Myofibrillar myopathy 3 [RCV001154434] Chr5:137867932 [GRCh38]
Chr5:137203621 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_006790.3(MYOT):c.817-11T>C single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000355681]|Myofibrillar Myopathy, Dominant [RCV000300821]|Myofibrillar myopathy 3 [RCV002520316] Chr5:137883373 [GRCh38]
Chr5:137219062 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.533G>A (p.Arg178His) single nucleotide variant Inborn genetic diseases [RCV002523507]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000347504]|Myofibrillar Myopathy, Dominant [RCV000386833]|Myofibrillar myopathy 3 [RCV000874867]|not provided [RCV001557068]|not specified [RCV000594719] Chr5:137877521 [GRCh38]
Chr5:137213210 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.*463C>T single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000352566]|Myofibrillar Myopathy, Dominant [RCV000401293]|Myofibrillar myopathy 3 [RCV001151709] Chr5:137887848 [GRCh38]
Chr5:137223537 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_006790.3(MYOT):c.-165C>T single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000352820]|Myofibrillar Myopathy, Dominant [RCV000295567]|Myofibrillar myopathy 3 [RCV003312995] Chr5:137870487 [GRCh38]
Chr5:137206176 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) single nucleotide variant Inborn genetic diseases [RCV002523508]|Limb-Girdle Muscular Dystrophy, Dominant [RCV000367931]|Myofibrillar Myopathy, Dominant [RCV000391315]|Myofibrillar myopathy 3 [RCV000529217]|not provided [RCV000487879] Chr5:137887289 [GRCh38]
Chr5:137222978 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1102C>T (p.Leu368=) single nucleotide variant Myofibrillar myopathy 3 [RCV001438813]|not provided [RCV000271359] Chr5:137886125 [GRCh38]
Chr5:137221814 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) single nucleotide variant Myofibrillar myopathy 3 [RCV001078699]|not provided [RCV000726159] Chr5:137887289 [GRCh38]
Chr5:137222978 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.252G>A (p.Arg84=) single nucleotide variant Myofibrillar myopathy 3 [RCV002519355]|not provided [RCV000317026] Chr5:137870903 [GRCh38]
Chr5:137206592 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.531+4G>C single nucleotide variant not provided [RCV000352625] Chr5:137876007 [GRCh38]
Chr5:137211696 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.342C>T (p.Ser114=) single nucleotide variant Myofibrillar myopathy 3 [RCV001087278]|not provided [RCV000353610] Chr5:137870993 [GRCh38]
Chr5:137206682 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.1083dup (p.Glu362fs) duplication not provided [RCV000287496] Chr5:137886105..137886106 [GRCh38]
Chr5:137221794..137221795 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.563G>T (p.Arg188Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV000639974]|not provided [RCV000320489] Chr5:137877551 [GRCh38]
Chr5:137213240 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1398T>G (p.Leu466=) single nucleotide variant Myofibrillar myopathy 3 [RCV001410801]|not provided [RCV000392345] Chr5:137887286 [GRCh38]
Chr5:137222975 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.96T>C (p.Ser32=) single nucleotide variant Myofibrillar myopathy 3 [RCV002518105]|not provided [RCV000287209] Chr5:137870747 [GRCh38]
Chr5:137206436 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.588T>C (p.Ala196=) single nucleotide variant not provided [RCV000288204] Chr5:137877576 [GRCh38]
Chr5:137213265 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.656G>A (p.Arg219Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV001347445]|not provided [RCV000288296] Chr5:137880838 [GRCh38]
Chr5:137216527 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.34C>G (p.Gln12Glu) single nucleotide variant not provided [RCV000290087] Chr5:137870685 [GRCh38]
Chr5:137206374 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1453C>T (p.Arg485Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV001041699]|not provided [RCV000323775] Chr5:137887341 [GRCh38]
Chr5:137223030 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.240C>T (p.Asn80=) single nucleotide variant Myofibrillar myopathy 3 [RCV000639978]|not provided [RCV001697633]|not specified [RCV000292433] Chr5:137870891 [GRCh38]
Chr5:137206580 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity
NM_006790.3(MYOT):c.634-14_634-10del deletion Myofibrillar myopathy 3 [RCV002059250]|not provided [RCV000294314] Chr5:137880799..137880803 [GRCh38]
Chr5:137216491..137216495 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.61T>C (p.Leu21=) single nucleotide variant Myofibrillar myopathy 3 [RCV001495333]|not provided [RCV000294470] Chr5:137870712 [GRCh38]
Chr5:137206401 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.282C>T (p.Ala94=) single nucleotide variant not provided [RCV000328140] Chr5:137870933 [GRCh38]
Chr5:137206622 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) single nucleotide variant Myofibrillar myopathy 3 [RCV001088610]|not provided [RCV000725807]|not specified [RCV000363482] Chr5:137886948 [GRCh38]
Chr5:137222637 [GRCh37]
Chr5:5q31.2
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.*167A>G single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000267259]|Myofibrillar Myopathy, Dominant [RCV000325810]|Myofibrillar myopathy 3 [RCV003312997] Chr5:137887552 [GRCh38]
Chr5:137223241 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1411T>C (p.Leu471=) single nucleotide variant Myofibrillar myopathy 3 [RCV002059189]|not provided [RCV000366498] Chr5:137887299 [GRCh38]
Chr5:137222988 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) single nucleotide variant Myofibrillar myopathy 3 [RCV000812032]|not provided [RCV000725246] Chr5:137887301 [GRCh38]
Chr5:137222990 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.934G>T (p.Val312Leu) single nucleotide variant not provided [RCV000332987] Chr5:137883501 [GRCh38]
Chr5:137219190 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.129G>C (p.Gln43His) single nucleotide variant not provided [RCV000367939] Chr5:137870780 [GRCh38]
Chr5:137206469 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV001079228]|not provided [RCV000712368]|not specified [RCV000615351] Chr5:137870871 [GRCh38]
Chr5:137206560 [GRCh37]
Chr5:5q31.2
benign|likely benign
GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3 copy number gain not provided [RCV000487658] Chr5:94844077..178830410 [GRCh37]
Chr5:5q15-35.3
likely benign
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV001338667]|not provided [RCV000595613] Chr5:137886973 [GRCh38]
Chr5:137222662 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1345C>G (p.Pro449Ala) single nucleotide variant Inborn genetic diseases [RCV003243182]|Myofibrillar myopathy 3 [RCV000553497] Chr5:137887233 [GRCh38]
Chr5:137222922 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1222T>C (p.Leu408=) single nucleotide variant Limb-Girdle Muscular Dystrophy, Dominant [RCV000283661]|Myofibrillar Myopathy, Dominant [RCV000399662]|Myofibrillar myopathy 3 [RCV001154653]|not provided [RCV002472993] Chr5:137886895 [GRCh38]
Chr5:137222584 [GRCh37]
Chr5:5q31.2
conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.-89del deletion Limb-Girdle Muscular Dystrophy, Dominant [RCV000294444]|Myofibrillar Myopathy, Dominant [RCV000399508]|Myofibrillar myopathy 3 [RCV003312996] Chr5:137870562 [GRCh38]
Chr5:137206251 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.683+10T>A single nucleotide variant Myofibrillar myopathy 3 [RCV001415768]|not provided [RCV000591750] Chr5:137880875 [GRCh38]
Chr5:137216564 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.1324+8A>G single nucleotide variant not provided [RCV000597074] Chr5:137887005 [GRCh38]
Chr5:137222694 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.257C>A (p.Thr86Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV000639973]|not provided [RCV000593051] Chr5:137870908 [GRCh38]
Chr5:137206597 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1275A>T (p.Ala425=) single nucleotide variant Myofibrillar myopathy 3 [RCV000639980] Chr5:137886948 [GRCh38]
Chr5:137222637 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.999C>A (p.Thr333=) single nucleotide variant Myofibrillar myopathy 3 [RCV000639981] Chr5:137883566 [GRCh38]
Chr5:137219255 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.67C>T (p.Pro23Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV000794579]|not provided [RCV000731979] Chr5:137870718 [GRCh38]
Chr5:137206407 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.464A>C (p.Glu155Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV001855832]|not provided [RCV000735130] Chr5:137875936 [GRCh38]
Chr5:137211625 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV001046038]|not provided [RCV000734755] Chr5:137877617 [GRCh38]
Chr5:137213306 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1191-272C>G single nucleotide variant not provided [RCV001572066] Chr5:137886592 [GRCh38]
Chr5:137222281 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1404G>C (p.Gly468=) single nucleotide variant Myofibrillar myopathy 3 [RCV001418317] Chr5:137887292 [GRCh38]
Chr5:137222981 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.255T>C (p.Val85=) single nucleotide variant Myofibrillar myopathy 3 [RCV001497098]|not provided [RCV000732518] Chr5:137870906 [GRCh38]
Chr5:137206595 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.782T>C (p.Ile261Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV001373347]|not provided [RCV000732547] Chr5:137882071 [GRCh38]
Chr5:137217760 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.870T>A (p.Val290=) single nucleotide variant Myofibrillar myopathy 3 [RCV001436389]|not provided [RCV000734799] Chr5:137883437 [GRCh38]
Chr5:137219126 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.1208C>G (p.Thr403Ser) single nucleotide variant not provided [RCV000734801] Chr5:137886881 [GRCh38]
Chr5:137222570 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1317C>T (p.Asp439=) single nucleotide variant Myofibrillar myopathy 3 [RCV001475961]|not provided [RCV000594706] Chr5:137886990 [GRCh38]
Chr5:137222679 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.679G>A (p.Val227Ile) single nucleotide variant not provided [RCV000594792] Chr5:137880861 [GRCh38]
Chr5:137216550 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.594G>A (p.Val198=) single nucleotide variant Myofibrillar myopathy 3 [RCV001084419]|not provided [RCV000734882] Chr5:137877582 [GRCh38]
Chr5:137213271 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) single nucleotide variant not provided [RCV000730932] Chr5:137886149 [GRCh38]
Chr5:137221838 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910)x3 copy number gain See cases [RCV000449349] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_006790.3(MYOT):c.*15T>C single nucleotide variant not specified [RCV000421419] Chr5:137887400 [GRCh38]
Chr5:137223089 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1335C>T (p.Asn445=) single nucleotide variant Myofibrillar myopathy 3 [RCV001501830]|not provided [RCV000727303]|not specified [RCV000442443] Chr5:137887223 [GRCh38]
Chr5:137222912 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.858T>C (p.Asn286=) single nucleotide variant not specified [RCV000422045] Chr5:137883425 [GRCh38]
Chr5:137219114 [GRCh37]
Chr5:5q31.2
likely benign
GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3 copy number gain See cases [RCV000448245] Chr5:106716357..180687338 [GRCh37]
Chr5:5q21.3-35.3
pathogenic
GRCh37/hg19 5q31.2(chr5:136667092-137380603)x3 copy number gain See cases [RCV000447839] Chr5:136667092..137380603 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1497A>T (p.Ter499Tyr) single nucleotide variant Myofibrillar myopathy 3 [RCV000554405] Chr5:137887385 [GRCh38]
Chr5:137223074 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.758T>C (p.Ile253Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV001217128]|not provided [RCV000497521] Chr5:137882047 [GRCh38]
Chr5:137217736 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NC_000005.9:g.(?_86400000)_(154000000_?)del deletion Familial adenomatous polyposis 1 [RCV002231249]|Hereditary cancer-predisposing syndrome [RCV000554476] Chr5:86400000..154000000 [GRCh37]
Chr5:5q14.3-33.2
pathogenic
NM_006790.3(MYOT):c.1386A>G (p.Lys462=) single nucleotide variant not provided [RCV000596405] Chr5:137887274 [GRCh38]
Chr5:137222963 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.414T>C (p.Asn138=) single nucleotide variant Myofibrillar myopathy 3 [RCV002065173]|not provided [RCV000597889] Chr5:137875886 [GRCh38]
Chr5:137211575 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.391G>T (p.Ala131Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV000536530] Chr5:137875863 [GRCh38]
Chr5:137211552 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.586G>A (p.Ala196Thr) single nucleotide variant Inborn genetic diseases [RCV003277122] Chr5:137877574 [GRCh38]
Chr5:137213263 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.471G>A (p.Leu157=) single nucleotide variant Myofibrillar myopathy 3 [RCV001447420] Chr5:137875943 [GRCh38]
Chr5:137211632 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.816+5G>T single nucleotide variant Myofibrillar myopathy 3 [RCV000639977] Chr5:137882110 [GRCh38]
Chr5:137217799 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.49T>C (p.Cys17Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV000537434] Chr5:137870700 [GRCh38]
Chr5:137206389 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.387A>G (p.Ile129Met) single nucleotide variant Myofibrillar myopathy 3 [RCV000560480] Chr5:137875859 [GRCh38]
Chr5:137211548 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.937G>A (p.Val313Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV000639972] Chr5:137883504 [GRCh38]
Chr5:137219193 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.683+8del deletion Myofibrillar myopathy 3 [RCV001080334]|not provided [RCV000594296] Chr5:137880868 [GRCh38]
Chr5:137216557 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.398C>T (p.Pro133Leu) single nucleotide variant Heart failure [RCV000852991]|Myofibrillar myopathy 3 [RCV000639971] Chr5:137875870 [GRCh38]
Chr5:137211559 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.359A>G (p.Tyr120Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV000639975] Chr5:137875831 [GRCh38]
Chr5:137211520 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) single nucleotide variant Inborn genetic diseases [RCV000623121]|Myofibrillar myopathy 3 [RCV001855311]|not provided [RCV003480719] Chr5:137883565 [GRCh38]
Chr5:137219254 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.653C>A (p.Ala218Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV000687304] Chr5:137880835 [GRCh38]
Chr5:137216524 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.145G>C (p.Glu49Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV000692676] Chr5:137870796 [GRCh38]
Chr5:137206485 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) single nucleotide variant Cardiomyopathy [RCV000852561]|Inborn genetic diseases [RCV003362922]|Myofibrillar myopathy 3 [RCV000707221]|not provided [RCV000992419] Chr5:137887252 [GRCh38]
Chr5:137222941 [GRCh37]
Chr5:5q31.2
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006790.3(MYOT):c.1364G>C (p.Arg455Pro) single nucleotide variant Myofibrillar myopathy 3 [RCV000704667] Chr5:137887252 [GRCh38]
Chr5:137222941 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1A>T (p.Met1Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV000704688] Chr5:137870652 [GRCh38]
Chr5:137206341 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3
pathogenic
NM_006790.3(MYOT):c.684-26T>C single nucleotide variant not provided [RCV001725708] Chr5:137881947 [GRCh38]
Chr5:137217636 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.-211-174T>A single nucleotide variant not provided [RCV001534634] Chr5:137870267 [GRCh38]
Chr5:137205956 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.-211-152AC[24] microsatellite not provided [RCV001586162] Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1325-4T>A single nucleotide variant Myofibrillar myopathy 3 [RCV000960718] Chr5:137887209 [GRCh38]
Chr5:137222898 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.888C>T (p.His296=) single nucleotide variant Myofibrillar myopathy 3 [RCV001455938] Chr5:137883455 [GRCh38]
Chr5:137219144 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV001050862]|not provided [RCV003132176] Chr5:137887306 [GRCh38]
Chr5:137222995 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.966A>G (p.Ala322=) single nucleotide variant Myofibrillar myopathy 3 [RCV001044672] Chr5:137883533 [GRCh38]
Chr5:137219222 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) single nucleotide variant Myofibrillar myopathy 3 [RCV001041615]|not provided [RCV003132155] Chr5:137881975 [GRCh38]
Chr5:137217664 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1346del (p.Pro449fs) deletion Myofibrillar myopathy 3 [RCV001484659] Chr5:137887233 [GRCh38]
Chr5:137222922 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.438T>C (p.Pro146=) single nucleotide variant not provided [RCV000940047] Chr5:137875910 [GRCh38]
Chr5:137211599 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.654G>A (p.Ala218=) single nucleotide variant Myofibrillar myopathy 3 [RCV001471001] Chr5:137880836 [GRCh38]
Chr5:137216525 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1452G>A (p.Gln484=) single nucleotide variant not provided [RCV000937992] Chr5:137887340 [GRCh38]
Chr5:137223029 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.182A>C (p.His61Pro) single nucleotide variant Myofibrillar myopathy 3 [RCV000822941]|not provided [RCV002473155] Chr5:137870833 [GRCh38]
Chr5:137206522 [GRCh37]
Chr5:5q31.2
uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32
uncertain significance
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) single nucleotide variant Inborn genetic diseases [RCV002538180]|Myofibrillar myopathy 3 [RCV000813987]|not provided [RCV001572653] Chr5:137886182 [GRCh38]
Chr5:137221871 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1139T>C (p.Leu380Pro) single nucleotide variant Myofibrillar myopathy 3 [RCV000805078] Chr5:137886162 [GRCh38]
Chr5:137221851 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.86C>T (p.Ser29Phe) single nucleotide variant Myofibrillar myopathy 3 [RCV000814346] Chr5:137870737 [GRCh38]
Chr5:137206426 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.83C>T (p.Thr28Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV000814347] Chr5:137870734 [GRCh38]
Chr5:137206423 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.532-173G>A single nucleotide variant not provided [RCV000829613] Chr5:137877347 [GRCh38]
Chr5:137213036 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.784G>C (p.Asp262His) single nucleotide variant Myofibrillar myopathy 3 [RCV000794303] Chr5:137882073 [GRCh38]
Chr5:137217762 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) single nucleotide variant Inborn genetic diseases [RCV002537365]|Myofibrillar myopathy 3 [RCV000812064] Chr5:137875864 [GRCh38]
Chr5:137211553 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.650A>G (p.His217Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV000820634] Chr5:137880832 [GRCh38]
Chr5:137216521 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.357-250T>G single nucleotide variant not provided [RCV000826392] Chr5:137875579 [GRCh38]
Chr5:137211268 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.550A>C (p.Lys184Gln) single nucleotide variant not provided [RCV001092017] Chr5:137877538 [GRCh38]
Chr5:137213227 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.684-7C>T single nucleotide variant Myofibrillar myopathy 3 [RCV001444928] Chr5:137881966 [GRCh38]
Chr5:137217655 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.543T>C (p.Tyr181=) single nucleotide variant not provided [RCV000942552] Chr5:137877531 [GRCh38]
Chr5:137213220 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1195T>C (p.Tyr399His) single nucleotide variant Myofibrillar myopathy 3 [RCV000814437] Chr5:137886868 [GRCh38]
Chr5:137222557 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.810C>T (p.Asp270=) single nucleotide variant not provided [RCV000998439] Chr5:137882099 [GRCh38]
Chr5:137217788 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1046C>T (p.Pro349Leu) single nucleotide variant Muscle weakness [RCV000850321] Chr5:137886069 [GRCh38]
Chr5:137221758 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.490A>C (p.Lys164Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV001246223] Chr5:137875962 [GRCh38]
Chr5:137211651 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) single nucleotide variant Inborn genetic diseases [RCV003163718]|Myofibrillar myopathy 3 [RCV001222286]|not provided [RCV003132286] Chr5:137870883 [GRCh38]
Chr5:137206572 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.859G>A (p.Gly287Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV001315774]|not provided [RCV000998441] Chr5:137883426 [GRCh38]
Chr5:137219115 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.348G>A (p.Met116Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV001151521] Chr5:137870999 [GRCh38]
Chr5:137206688 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.*50T>G single nucleotide variant Myofibrillar myopathy 3 [RCV001155490] Chr5:137887435 [GRCh38]
Chr5:137223124 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1266T>A (p.Thr422=) single nucleotide variant Myofibrillar myopathy 3 [RCV001228359] Chr5:137886939 [GRCh38]
Chr5:137222628 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.-211-152AC[21] microsatellite not provided [RCV001613588] Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.532-153C>A single nucleotide variant not provided [RCV001620694] Chr5:137877367 [GRCh38]
Chr5:137213056 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.356+228C>T single nucleotide variant not provided [RCV001667737] Chr5:137871235 [GRCh38]
Chr5:137206924 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.684-183G>A single nucleotide variant not provided [RCV001559612] Chr5:137881790 [GRCh38]
Chr5:137217479 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.634-150T>C single nucleotide variant not provided [RCV001574557] Chr5:137880666 [GRCh38]
Chr5:137216355 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1025-5T>C single nucleotide variant Myofibrillar myopathy 3 [RCV000983412] Chr5:137886043 [GRCh38]
Chr5:137221732 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.924C>A (p.Leu308=) single nucleotide variant not provided [RCV000888985] Chr5:137883491 [GRCh38]
Chr5:137219180 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.381A>G (p.Gln127=) single nucleotide variant not provided [RCV000878074] Chr5:137875853 [GRCh38]
Chr5:137211542 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1084G>C (p.Glu362Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV001225761] Chr5:137886107 [GRCh38]
Chr5:137221796 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1370G>A (p.Arg457Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV001222456] Chr5:137887258 [GRCh38]
Chr5:137222947 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1458G>A (p.Leu486=) single nucleotide variant Myofibrillar myopathy 3 [RCV003313002] Chr5:137887346 [GRCh38]
Chr5:137223035 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.147G>C (p.Glu49Asp) single nucleotide variant Myofibrillar myopathy 3 [RCV001057709] Chr5:137870798 [GRCh38]
Chr5:137206487 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.701G>A (p.Arg234Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV001058463] Chr5:137881990 [GRCh38]
Chr5:137217679 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.843G>A (p.Val281=) single nucleotide variant not provided [RCV000998440] Chr5:137883410 [GRCh38]
Chr5:137219099 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1191-273_1191-272insG insertion not provided [RCV001553354] Chr5:137886591..137886592 [GRCh38]
Chr5:137222280..137222281 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.-211-297dup duplication not provided [RCV001560068] Chr5:137870126..137870127 [GRCh38]
Chr5:137205815..137205816 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.531+301G>T single nucleotide variant not provided [RCV001560775] Chr5:137876304 [GRCh38]
Chr5:137211993 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.-211-152AC[16] microsatellite not provided [RCV001722800] Chr5:137870289..137870294 [GRCh38]
Chr5:137205978..137205983 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.-211-297del deletion not provided [RCV001659334] Chr5:137870127 [GRCh38]
Chr5:137205816 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.357-283C>T single nucleotide variant not provided [RCV001594530] Chr5:137875546 [GRCh38]
Chr5:137211235 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.956G>A (p.Gly319Glu) single nucleotide variant not specified [RCV001192382] Chr5:137883523 [GRCh38]
Chr5:137219212 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.*372G>A single nucleotide variant Myofibrillar myopathy 3 [RCV001157168] Chr5:137887757 [GRCh38]
Chr5:137223446 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.-286C>G single nucleotide variant Myofibrillar myopathy 3 [RCV001151412] Chr5:137867879 [GRCh38]
Chr5:137203568 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.356+13T>G single nucleotide variant Myofibrillar myopathy 3 [RCV001151522] Chr5:137871020 [GRCh38]
Chr5:137206709 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.191T>A (p.Met64Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV001155273] Chr5:137870842 [GRCh38]
Chr5:137206531 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.*188A>C single nucleotide variant Myofibrillar myopathy 3 [RCV001155491] Chr5:137887573 [GRCh38]
Chr5:137223262 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV003313001]|not provided [RCV003132242] Chr5:137870794 [GRCh38]
Chr5:137206483 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.634-89G>A single nucleotide variant not provided [RCV001590179] Chr5:137880727 [GRCh38]
Chr5:137216416 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.-211-152AC[23] microsatellite not provided [RCV001670479] Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.1471G>A (p.Gly491Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV001063979] Chr5:137887359 [GRCh38]
Chr5:137223048 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.-211-152AC[22] microsatellite not provided [RCV001679996] Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.*404G>A single nucleotide variant Myofibrillar myopathy 3 [RCV001157170] Chr5:137887789 [GRCh38]
Chr5:137223478 [GRCh37]
Chr5:5q31.2
benign|likely benign
NM_006790.3(MYOT):c.524G>A (p.Gly175Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV001233470] Chr5:137875996 [GRCh38]
Chr5:137211685 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.560G>A (p.Arg187His) single nucleotide variant Myofibrillar myopathy 3 [RCV001234974] Chr5:137877548 [GRCh38]
Chr5:137213237 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.680_683del (p.Val227fs) deletion Myofibrillar myopathy 3 [RCV001214063] Chr5:137880859..137880862 [GRCh38]
Chr5:137216548..137216551 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1184G>A (p.Arg395Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV001045085] Chr5:137886207 [GRCh38]
Chr5:137221896 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.*311A>T single nucleotide variant Myofibrillar myopathy 3 [RCV001157166] Chr5:137887696 [GRCh38]
Chr5:137223385 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1025-3T>C single nucleotide variant Myofibrillar myopathy 3 [RCV001065260] Chr5:137886045 [GRCh38]
Chr5:137221734 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.951T>G (p.Asp317Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV001302639] Chr5:137883518 [GRCh38]
Chr5:137219207 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1242C>T (p.Asn414=) single nucleotide variant not provided [RCV001810665] Chr5:137886915 [GRCh38]
Chr5:137222604 [GRCh37]
Chr5:5q31.2
likely benign|uncertain significance
NM_006790.3(MYOT):c.642C>A (p.Asn214Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV001320342] Chr5:137880824 [GRCh38]
Chr5:137216513 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.252G>C (p.Arg84Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV001327186] Chr5:137870903 [GRCh38]
Chr5:137206592 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.751C>T (p.Arg251Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV001340589] Chr5:137882040 [GRCh38]
Chr5:137217729 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) single nucleotide variant Myofibrillar myopathy 3 [RCV001362246]|not provided [RCV003132466] Chr5:137883582 [GRCh38]
Chr5:137219271 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136633338)_(140998481_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV001339088] Chr5:136633338..140998481 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_006790.3(MYOT):c.67C>A (p.Pro23Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV001326319] Chr5:137870718 [GRCh38]
Chr5:137206407 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.449T>C (p.Ile150Thr) single nucleotide variant Inborn genetic diseases [RCV003346520]|Myofibrillar myopathy 3 [RCV001364854]|not provided [RCV003227966] Chr5:137875921 [GRCh38]
Chr5:137211610 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) single nucleotide variant Myofibrillar myopathy 3 [RCV001365162]|not provided [RCV003130503] Chr5:137870802 [GRCh38]
Chr5:137206491 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.385A>G (p.Ile129Val) single nucleotide variant Myofibrillar myopathy 3 [RCV001298216] Chr5:137875857 [GRCh38]
Chr5:137211546 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV001323207]|not provided [RCV003132415] Chr5:137877597 [GRCh38]
Chr5:137213286 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1122del (p.Ile375fs) deletion Myofibrillar myopathy 3 [RCV001345288] Chr5:137886145 [GRCh38]
Chr5:137221834 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.436C>T (p.Pro146Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV001350680] Chr5:137875908 [GRCh38]
Chr5:137211597 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1291G>A (p.Val431Met) single nucleotide variant Myofibrillar myopathy 3 [RCV001321357] Chr5:137886964 [GRCh38]
Chr5:137222653 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1389T>C (p.Tyr463=) single nucleotide variant not provided [RCV001311680] Chr5:137887277 [GRCh38]
Chr5:137222966 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.655C>T (p.Arg219Ter) single nucleotide variant Myofibrillar myopathy 3 [RCV001317557] Chr5:137880837 [GRCh38]
Chr5:137216526 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.752G>A (p.Arg251His) single nucleotide variant Myofibrillar myopathy 3 [RCV001341747]|not provided [RCV003136003] Chr5:137882041 [GRCh38]
Chr5:137217730 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.137A>T (p.Gln46Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV001366199] Chr5:137870788 [GRCh38]
Chr5:137206477 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.511C>T (p.Leu171Phe) single nucleotide variant Myofibrillar myopathy 3 [RCV001325402]|not provided [RCV001508172] Chr5:137875983 [GRCh38]
Chr5:137211672 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.2(chr5:136409875-137739167) copy number loss Microcephaly [RCV001352638] Chr5:136409875..137739167 [GRCh37]
Chr5:5q31.2
pathogenic
NM_006790.3(MYOT):c.1020C>T (p.Val340=) single nucleotide variant Myofibrillar myopathy 3 [RCV001395214] Chr5:137883587 [GRCh38]
Chr5:137219276 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1457T>C (p.Leu486Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV001315405] Chr5:137887345 [GRCh38]
Chr5:137223034 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1128T>C (p.Pro376=) single nucleotide variant Myofibrillar myopathy 3 [RCV001499879] Chr5:137886151 [GRCh38]
Chr5:137221840 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1194A>G (p.Leu398=) single nucleotide variant Myofibrillar myopathy 3 [RCV001402521] Chr5:137886867 [GRCh38]
Chr5:137222556 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1236T>C (p.Asp412=) single nucleotide variant Myofibrillar myopathy 3 [RCV001393270] Chr5:137886909 [GRCh38]
Chr5:137222598 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.532-129del deletion not provided [RCV001655351] Chr5:137877368 [GRCh38]
Chr5:137213057 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.298A>G (p.Ile100Val) single nucleotide variant Myofibrillar myopathy 3 [RCV001882553]|not provided [RCV001508171] Chr5:137870949 [GRCh38]
Chr5:137206638 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.532-129dup duplication not provided [RCV001725558] Chr5:137877367..137877368 [GRCh38]
Chr5:137213056..137213057 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.951T>C (p.Asp317=) single nucleotide variant Myofibrillar myopathy 3 [RCV001506671] Chr5:137883518 [GRCh38]
Chr5:137219207 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1191-183A>C single nucleotide variant not provided [RCV001611136] Chr5:137886681 [GRCh38]
Chr5:137222370 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.-211-300A>G single nucleotide variant not provided [RCV001654879] Chr5:137870141 [GRCh38]
Chr5:137205830 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.-211-152AC[20] microsatellite not provided [RCV001674137] Chr5:137870288..137870289 [GRCh38]
Chr5:137205977..137205978 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.660G>C (p.Leu220=) single nucleotide variant Myofibrillar myopathy 3 [RCV001399622] Chr5:137880842 [GRCh38]
Chr5:137216531 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.420G>A (p.Lys140=) single nucleotide variant Myofibrillar myopathy 3 [RCV001483410] Chr5:137875892 [GRCh38]
Chr5:137211581 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.532-5T>C single nucleotide variant Myofibrillar myopathy 3 [RCV001427869] Chr5:137877515 [GRCh38]
Chr5:137213204 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.943G>A (p.Ala315Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV001394012] Chr5:137883510 [GRCh38]
Chr5:137219199 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1253C>T (p.Ala418Val) single nucleotide variant Myofibrillar myopathy 3 [RCV001970583] Chr5:137886926 [GRCh38]
Chr5:137222615 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1478A>G (p.Tyr493Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV001863805] Chr5:137887366 [GRCh38]
Chr5:137223055 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q31.1-31.2(chr5:132031902-137623639) copy number loss not specified [RCV002053530] Chr5:132031902..137623639 [GRCh37]
Chr5:5q31.1-31.2
pathogenic
NM_006790.3(MYOT):c.134G>T (p.Arg45Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV001911122] Chr5:137870785 [GRCh38]
Chr5:137206474 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) single nucleotide variant Myofibrillar myopathy 3 [RCV001947268]|not provided [RCV003136228] Chr5:137875896 [GRCh38]
Chr5:137211585 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.683+1G>C single nucleotide variant Myofibrillar myopathy 3 [RCV002021636] Chr5:137880866 [GRCh38]
Chr5:137216555 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.50G>A (p.Cys17Tyr) single nucleotide variant Myofibrillar myopathy 3 [RCV001911119] Chr5:137870701 [GRCh38]
Chr5:137206390 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.762A>C (p.Gln254His) single nucleotide variant Myofibrillar myopathy 3 [RCV001968472] Chr5:137882051 [GRCh38]
Chr5:137217740 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.552G>C (p.Lys184Asn) single nucleotide variant Myofibrillar myopathy 3 [RCV001890651] Chr5:137877540 [GRCh38]
Chr5:137213229 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV001912676]|not provided [RCV002473319] Chr5:137876001 [GRCh38]
Chr5:137211690 [GRCh37]
Chr5:5q31.2
uncertain significance
GRCh37/hg19 5q23.3-33.3(chr5:130125085-157574910) copy number gain not specified [RCV002053526] Chr5:130125085..157574910 [GRCh37]
Chr5:5q23.3-33.3
pathogenic
NM_006790.3(MYOT):c.1327C>T (p.Arg443Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV001957583] Chr5:137887215 [GRCh38]
Chr5:137222904 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.956G>C (p.Gly319Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV001898059] Chr5:137883523 [GRCh38]
Chr5:137219212 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1391T>C (p.Leu464Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV001899178] Chr5:137887279 [GRCh38]
Chr5:137222968 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1191C>T (p.Ser397=) single nucleotide variant Myofibrillar myopathy 3 [RCV002035520] Chr5:137886864 [GRCh38]
Chr5:137222553 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1201G>T (p.Asp401Tyr) single nucleotide variant Myofibrillar myopathy 3 [RCV002036193] Chr5:137886874 [GRCh38]
Chr5:137222563 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1132C>G (p.Pro378Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV001975465] Chr5:137886155 [GRCh38]
Chr5:137221844 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.593T>C (p.Val198Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV001883918] Chr5:137877581 [GRCh38]
Chr5:137213270 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1481A>C (p.Glu494Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV001996592] Chr5:137887369 [GRCh38]
Chr5:137223058 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.959C>T (p.Ala320Val) single nucleotide variant Myofibrillar myopathy 3 [RCV002050034] Chr5:137883526 [GRCh38]
Chr5:137219215 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_137216485)_(137221922_?)del deletion Myofibrillar myopathy 3 [RCV001982223] Chr5:137216485..137221922 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.982A>G (p.Arg328Gly) single nucleotide variant Myofibrillar myopathy 3 [RCV001897013] Chr5:137883549 [GRCh38]
Chr5:137219238 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1409G>C (p.Gly470Ala) single nucleotide variant Inborn genetic diseases [RCV002553447]|Myofibrillar myopathy 3 [RCV001897610] Chr5:137887297 [GRCh38]
Chr5:137222986 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.459A>G (p.Ser153=) single nucleotide variant Myofibrillar myopathy 3 [RCV002074629] Chr5:137875931 [GRCh38]
Chr5:137211620 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1324+11C>G single nucleotide variant Myofibrillar myopathy 3 [RCV002072707] Chr5:137887008 [GRCh38]
Chr5:137222697 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1324+12T>A single nucleotide variant Myofibrillar myopathy 3 [RCV002086643] Chr5:137887009 [GRCh38]
Chr5:137222698 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.793A>C (p.Arg265=) single nucleotide variant Myofibrillar myopathy 3 [RCV002147699] Chr5:137882082 [GRCh38]
Chr5:137217771 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.816+17A>G single nucleotide variant Myofibrillar myopathy 3 [RCV002129331] Chr5:137882122 [GRCh38]
Chr5:137217811 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1089A>C (p.Gly363=) single nucleotide variant Myofibrillar myopathy 3 [RCV002110950] Chr5:137886112 [GRCh38]
Chr5:137221801 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.522T>C (p.Asn174=) single nucleotide variant Myofibrillar myopathy 3 [RCV002196173] Chr5:137875994 [GRCh38]
Chr5:137211683 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.744C>T (p.Tyr248=) single nucleotide variant Myofibrillar myopathy 3 [RCV002097326] Chr5:137882033 [GRCh38]
Chr5:137217722 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.903T>C (p.Ser301=) single nucleotide variant Myofibrillar myopathy 3 [RCV002080954] Chr5:137883470 [GRCh38]
Chr5:137219159 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1025-19T>A single nucleotide variant Myofibrillar myopathy 3 [RCV002089065] Chr5:137886029 [GRCh38]
Chr5:137221718 [GRCh37]
Chr5:5q31.2
benign
NM_006790.3(MYOT):c.618T>C (p.Gly206=) single nucleotide variant Myofibrillar myopathy 3 [RCV002206553] Chr5:137877606 [GRCh38]
Chr5:137213295 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.48A>C (p.Pro16=) single nucleotide variant Myofibrillar myopathy 3 [RCV002171725] Chr5:137870699 [GRCh38]
Chr5:137206388 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1324+18C>T single nucleotide variant Myofibrillar myopathy 3 [RCV002097392] Chr5:137887015 [GRCh38]
Chr5:137222704 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.519T>C (p.His173=) single nucleotide variant Myofibrillar myopathy 3 [RCV002128538] Chr5:137875991 [GRCh38]
Chr5:137211680 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.875C>G (p.Ser292Ter) single nucleotide variant not provided [RCV002214361] Chr5:137883442 [GRCh38]
Chr5:137219131 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.683+9T>A single nucleotide variant Myofibrillar myopathy 3 [RCV002170696] Chr5:137880874 [GRCh38]
Chr5:137216563 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.249A>G (p.Gln83=) single nucleotide variant Myofibrillar myopathy 3 [RCV002102528] Chr5:137870900 [GRCh38]
Chr5:137206589 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1191-7A>C single nucleotide variant Myofibrillar myopathy 3 [RCV002199058] Chr5:137886857 [GRCh38]
Chr5:137222546 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.532-12A>T single nucleotide variant Myofibrillar myopathy 3 [RCV002180289] Chr5:137877508 [GRCh38]
Chr5:137213197 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.684-16C>T single nucleotide variant Myofibrillar myopathy 3 [RCV002144589] Chr5:137881957 [GRCh38]
Chr5:137217646 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.651T>C (p.His217=) single nucleotide variant Myofibrillar myopathy 3 [RCV002082582] Chr5:137880833 [GRCh38]
Chr5:137216522 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.318T>C (p.Asp106=) single nucleotide variant Myofibrillar myopathy 3 [RCV002099340] Chr5:137870969 [GRCh38]
Chr5:137206658 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.357-15T>A single nucleotide variant Myofibrillar myopathy 3 [RCV002141849] Chr5:137875814 [GRCh38]
Chr5:137211503 [GRCh37]
Chr5:5q31.2
likely benign
NC_000005.9:g.(?_136957787)_(140078137_?)dup duplication PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome [RCV003116437] Chr5:136957787..140078137 [GRCh37]
Chr5:5q31.2-31.3
uncertain significance
NM_006790.3(MYOT):c.1325-1G>A single nucleotide variant Myofibrillar myopathy 3 [RCV003112628] Chr5:137887212 [GRCh38]
Chr5:137222901 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.9:g.(?_136957787)_(138861289_?)del deletion STING-associated vasculopathy with onset in infancy [RCV003113978] Chr5:136957787..138861289 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.721G>T (p.Asp241Tyr) single nucleotide variant not provided [RCV002474338] Chr5:137882010 [GRCh38]
Chr5:137217699 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.725C>T (p.Ala242Val) single nucleotide variant Myofibrillar myopathy 3 [RCV002303938] Chr5:137882014 [GRCh38]
Chr5:137217703 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr) single nucleotide variant not provided [RCV003131663] Chr5:137875881 [GRCh38]
Chr5:137211570 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.162CTC[1] (p.Ser56del) microsatellite not provided [RCV002300970] Chr5:137870812..137870814 [GRCh38]
Chr5:137206501..137206503 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1454G>T (p.Arg485Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV002301128] Chr5:137887342 [GRCh38]
Chr5:137223031 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.815A>C (p.Lys272Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV002298119] Chr5:137882104 [GRCh38]
Chr5:137217793 [GRCh37]
Chr5:5q31.2
uncertain significance
NC_000005.10:g.137881974_137881979del deletion Myofibrillar myopathy 3 [RCV002971438] Chr5:137881969..137881974 [GRCh38]
Chr5:137217658..137217663 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1113G>C (p.Gln371His) single nucleotide variant Myofibrillar myopathy 3 [RCV003073911] Chr5:137886136 [GRCh38]
Chr5:137221825 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.469T>C (p.Leu157=) single nucleotide variant Myofibrillar myopathy 3 [RCV003011620] Chr5:137875941 [GRCh38]
Chr5:137211630 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.972T>A (p.Val324=) single nucleotide variant Myofibrillar myopathy 3 [RCV003014268] Chr5:137883539 [GRCh38]
Chr5:137219228 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1006G>C (p.Val336Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV003014269] Chr5:137883573 [GRCh38]
Chr5:137219262 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1378T>C (p.Phe460Leu) single nucleotide variant Inborn genetic diseases [RCV002883017]|Myofibrillar myopathy 3 [RCV003108189]|not provided [RCV003159242] Chr5:137887266 [GRCh38]
Chr5:137222955 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1190+18A>G single nucleotide variant Myofibrillar myopathy 3 [RCV003015919] Chr5:137886231 [GRCh38]
Chr5:137221920 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.614G>C (p.Ser205Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV002843281] Chr5:137877602 [GRCh38]
Chr5:137213291 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1167A>G (p.Val389=) single nucleotide variant Myofibrillar myopathy 3 [RCV002996232] Chr5:137886190 [GRCh38]
Chr5:137221879 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.884T>G (p.Leu295Trp) single nucleotide variant Myofibrillar myopathy 3 [RCV003032520] Chr5:137883451 [GRCh38]
Chr5:137219140 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.931G>C (p.Glu311Gln) single nucleotide variant Inborn genetic diseases [RCV002773520] Chr5:137883498 [GRCh38]
Chr5:137219187 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1024+5G>A single nucleotide variant Myofibrillar myopathy 3 [RCV002730758] Chr5:137883596 [GRCh38]
Chr5:137219285 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.709G>A (p.Val237Met) single nucleotide variant Myofibrillar myopathy 3 [RCV003055506] Chr5:137881998 [GRCh38]
Chr5:137217687 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.983G>A (p.Arg328Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV002640466] Chr5:137883550 [GRCh38]
Chr5:137219239 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV003079407]|not provided [RCV003134623]|not specified [RCV003317646] Chr5:137886967 [GRCh38]
Chr5:137222656 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.935T>C (p.Val312Ala) single nucleotide variant Myofibrillar myopathy 3 [RCV002949010] Chr5:137883502 [GRCh38]
Chr5:137219191 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.16C>T (p.Arg6Cys) single nucleotide variant Myofibrillar myopathy 3 [RCV002952832] Chr5:137870667 [GRCh38]
Chr5:137206356 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.156T>C (p.Phe52=) single nucleotide variant Myofibrillar myopathy 3 [RCV003018469] Chr5:137870807 [GRCh38]
Chr5:137206496 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.318T>A (p.Asp106Glu) single nucleotide variant Myofibrillar myopathy 3 [RCV003019612] Chr5:137870969 [GRCh38]
Chr5:137206658 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.532C>T (p.Arg178Cys) single nucleotide variant Inborn genetic diseases [RCV002912522]|Myofibrillar myopathy 3 [RCV002912521] Chr5:137877520 [GRCh38]
Chr5:137213209 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.134G>A (p.Arg45His) single nucleotide variant Myofibrillar myopathy 3 [RCV002781568] Chr5:137870785 [GRCh38]
Chr5:137206474 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1417dup (p.Val473fs) duplication Myofibrillar myopathy 3 [RCV003035859] Chr5:137887304..137887305 [GRCh38]
Chr5:137222993..137222994 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.137A>G (p.Gln46Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV002658666] Chr5:137870788 [GRCh38]
Chr5:137206477 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1175A>G (p.Asn392Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV003038759] Chr5:137886198 [GRCh38]
Chr5:137221887 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.690A>G (p.Arg230=) single nucleotide variant Myofibrillar myopathy 3 [RCV002999314] Chr5:137881979 [GRCh38]
Chr5:137217668 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.53G>T (p.Gly18Val) single nucleotide variant Myofibrillar myopathy 3 [RCV003019865] Chr5:137870704 [GRCh38]
Chr5:137206393 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.714T>C (p.Asn238=) single nucleotide variant Myofibrillar myopathy 3 [RCV002781194] Chr5:137882003 [GRCh38]
Chr5:137217692 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1327C>G (p.Arg443Gly) single nucleotide variant Myofibrillar myopathy 3 [RCV002705571] Chr5:137887215 [GRCh38]
Chr5:137222904 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.49T>A (p.Cys17Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV003021413] Chr5:137870700 [GRCh38]
Chr5:137206389 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.684-11T>C single nucleotide variant Myofibrillar myopathy 3 [RCV002918880] Chr5:137881962 [GRCh38]
Chr5:137217651 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.541T>C (p.Tyr181His) single nucleotide variant Inborn genetic diseases [RCV002955315] Chr5:137877529 [GRCh38]
Chr5:137213218 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.684-3T>C single nucleotide variant Myofibrillar myopathy 3 [RCV002801034] Chr5:137881970 [GRCh38]
Chr5:137217659 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1168C>T (p.Gln390Ter) single nucleotide variant Myofibrillar myopathy 3 [RCV002574230] Chr5:137886191 [GRCh38]
Chr5:137221880 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.239A>G (p.Asn80Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV002765870] Chr5:137870890 [GRCh38]
Chr5:137206579 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1323G>A (p.Thr441=) single nucleotide variant Myofibrillar myopathy 3 [RCV002891172] Chr5:137886996 [GRCh38]
Chr5:137222685 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.691T>C (p.Ser231Pro) single nucleotide variant Myofibrillar myopathy 3 [RCV002700923] Chr5:137881980 [GRCh38]
Chr5:137217669 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1318G>A (p.Val440Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV002741693] Chr5:137886991 [GRCh38]
Chr5:137222680 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.484G>A (p.Glu162Lys) single nucleotide variant Inborn genetic diseases [RCV002743329] Chr5:137875956 [GRCh38]
Chr5:137211645 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.667C>T (p.Pro223Ser) single nucleotide variant Myofibrillar myopathy 3 [RCV003040167] Chr5:137880849 [GRCh38]
Chr5:137216538 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1454G>A (p.Arg485His) single nucleotide variant Myofibrillar myopathy 3 [RCV002629767] Chr5:137887342 [GRCh38]
Chr5:137223031 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1328G>A (p.Arg443His) single nucleotide variant Myofibrillar myopathy 3 [RCV002578842] Chr5:137887216 [GRCh38]
Chr5:137222905 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.816+16A>G single nucleotide variant Myofibrillar myopathy 3 [RCV002899980] Chr5:137882121 [GRCh38]
Chr5:137217810 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.357-19T>C single nucleotide variant Myofibrillar myopathy 3 [RCV002675521] Chr5:137875810 [GRCh38]
Chr5:137211499 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1118C>T (p.Ser373Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV003086592] Chr5:137886141 [GRCh38]
Chr5:137221830 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1322C>T (p.Thr441Met) single nucleotide variant Myofibrillar myopathy 3 [RCV002770371] Chr5:137886995 [GRCh38]
Chr5:137222684 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.524G>T (p.Gly175Val) single nucleotide variant Myofibrillar myopathy 3 [RCV002895430] Chr5:137875996 [GRCh38]
Chr5:137211685 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV003090894]|not provided [RCV003134630] Chr5:137883433 [GRCh38]
Chr5:137219122 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.533G>T (p.Arg178Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV002577253] Chr5:137877521 [GRCh38]
Chr5:137213210 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.76C>T (p.Pro26Ser) single nucleotide variant Inborn genetic diseases [RCV002898508] Chr5:137870727 [GRCh38]
Chr5:137206416 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1366G>A (p.Val456Ile) single nucleotide variant Myofibrillar myopathy 3 [RCV002634043] Chr5:137887254 [GRCh38]
Chr5:137222943 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1439_1441del (p.Glu480del) deletion Myofibrillar myopathy 3 [RCV003051812] Chr5:137887325..137887327 [GRCh38]
Chr5:137223014..137223016 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.118A>G (p.Ile40Val) single nucleotide variant Myofibrillar myopathy 3 [RCV003069008] Chr5:137870769 [GRCh38]
Chr5:137206458 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1231A>C (p.Lys411Gln) single nucleotide variant Myofibrillar myopathy 3 [RCV002815130] Chr5:137886904 [GRCh38]
Chr5:137222593 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.683+8A>T single nucleotide variant Myofibrillar myopathy 3 [RCV003070825] Chr5:137880873 [GRCh38]
Chr5:137216562 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.364C>T (p.Gln122Ter) single nucleotide variant Myofibrillar myopathy 3 [RCV003071890] Chr5:137875836 [GRCh38]
Chr5:137211525 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1041A>G (p.Arg347=) single nucleotide variant Myofibrillar myopathy 3 [RCV002611825] Chr5:137886064 [GRCh38]
Chr5:137221753 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.225G>C (p.Gln75His) single nucleotide variant not provided [RCV003132808] Chr5:137870876 [GRCh38]
Chr5:137206565 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1336del (p.Gln446fs) deletion not specified [RCV003155857] Chr5:137887223 [GRCh38]
Chr5:137222912 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser) single nucleotide variant not provided [RCV003131662] Chr5:137877544 [GRCh38]
Chr5:137213233 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys) single nucleotide variant not provided [RCV003131666] Chr5:137877551 [GRCh38]
Chr5:137213240 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1372C>A (p.Pro458Thr) single nucleotide variant not provided [RCV003218910] Chr5:137887260 [GRCh38]
Chr5:137222949 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1363C>T (p.Arg455Trp) single nucleotide variant not provided [RCV003219120] Chr5:137887251 [GRCh38]
Chr5:137222940 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.419A>T (p.Lys140Met) single nucleotide variant Inborn genetic diseases [RCV003212103] Chr5:137875891 [GRCh38]
Chr5:137211580 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro) single nucleotide variant not provided [RCV003142640] Chr5:137875980 [GRCh38]
Chr5:137211669 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.170del (p.Thr57fs) deletion not provided [RCV003142641] Chr5:137870821 [GRCh38]
Chr5:137206510 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1234G>C (p.Asp412His) single nucleotide variant not provided [RCV003132802] Chr5:137886907 [GRCh38]
Chr5:137222596 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.404A>C (p.Gln135Pro) single nucleotide variant Inborn genetic diseases [RCV003373381] Chr5:137875876 [GRCh38]
Chr5:137211565 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.684-16C>A single nucleotide variant Myofibrillar myopathy 3 [RCV003505885] Chr5:137881957 [GRCh38]
Chr5:137217646 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1126C>A (p.Pro376Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV003505026] Chr5:137886149 [GRCh38]
Chr5:137221838 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.817-14G>A single nucleotide variant Myofibrillar myopathy 3 [RCV003504690] Chr5:137883370 [GRCh38]
Chr5:137219059 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1191-19T>G single nucleotide variant Myofibrillar myopathy 3 [RCV003505639] Chr5:137886845 [GRCh38]
Chr5:137222534 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.562del (p.Arg188fs) deletion Myofibrillar myopathy 3 [RCV003504778] Chr5:137877550 [GRCh38]
Chr5:137213239 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.473T>C (p.Ile158Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV003504691] Chr5:137875945 [GRCh38]
Chr5:137211634 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1119G>A (p.Ser373=) single nucleotide variant Myofibrillar myopathy 3 [RCV003504633] Chr5:137886142 [GRCh38]
Chr5:137221831 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1425A>G (p.Gln475=) single nucleotide variant Myofibrillar myopathy 3 [RCV003505364] Chr5:137887313 [GRCh38]
Chr5:137223002 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.1129C>A (p.Pro377Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV003505394] Chr5:137886152 [GRCh38]
Chr5:137221841 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.13G>A (p.Glu5Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV003872907] Chr5:137870664 [GRCh38]
Chr5:137206353 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1307C>A (p.Thr436Lys) single nucleotide variant Myofibrillar myopathy 3 [RCV003505421] Chr5:137886980 [GRCh38]
Chr5:137222669 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.167C>T (p.Ser56Leu) single nucleotide variant Myofibrillar myopathy 3 [RCV003389383] Chr5:137870818 [GRCh38]
Chr5:137206507 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1406A>G (p.Lys469Arg) single nucleotide variant MYOT-related condition [RCV003414366] Chr5:137887294 [GRCh38]
Chr5:137222983 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.500G>A (p.Cys167Tyr) single nucleotide variant Myofibrillar myopathy 3 [RCV003506377] Chr5:137875972 [GRCh38]
Chr5:137211661 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.855A>C (p.Leu285=) single nucleotide variant Myofibrillar myopathy 3 [RCV003506493] Chr5:137883422 [GRCh38]
Chr5:137219111 [GRCh37]
Chr5:5q31.2
likely benign
NM_006790.3(MYOT):c.16C>G (p.Arg6Gly) single nucleotide variant Myofibrillar myopathy 3 [RCV003506469] Chr5:137870667 [GRCh38]
Chr5:137206356 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.776T>G (p.Met259Arg) single nucleotide variant Myofibrillar myopathy 3 [RCV003506373] Chr5:137882065 [GRCh38]
Chr5:137217754 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.32T>C (p.Ile11Thr) single nucleotide variant Myofibrillar myopathy 3 [RCV003506553] Chr5:137870683 [GRCh38]
Chr5:137206372 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.392C>T (p.Ala131Val) single nucleotide variant not provided [RCV003131664] Chr5:137875864 [GRCh38]
Chr5:137211553 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys) single nucleotide variant not provided [RCV003132804] Chr5:137886107 [GRCh38]
Chr5:137221796 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.775A>G (p.Met259Val) single nucleotide variant not provided [RCV003132807] Chr5:137882064 [GRCh38]
Chr5:137217753 [GRCh37]
Chr5:5q31.2
uncertain significance
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr) single nucleotide variant not provided [RCV003132806] Chr5:137870931 [GRCh38]
Chr5:137206620 [GRCh37]
Chr5:5q31.2
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:578
Count of miRNA genes:321
Interacting mature miRNAs:334
Transcripts:ENST00000239926, ENST00000421631, ENST00000503748, ENST00000508938, ENST00000509812, ENST00000511254, ENST00000511625, ENST00000515645
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.

Markers in Region
SGC34636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37178,108,059 - 8,108,183UniSTSGRCh37
GRCh375137,222,217 - 137,222,343UniSTSGRCh37
Build 365137,250,116 - 137,250,242RGDNCBI36
Celera5133,344,514 - 133,344,640RGD
Celera178,136,511 - 8,136,635UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p13.1UniSTS
HuRef5132,414,035 - 132,414,161UniSTS
HuRef178,003,843 - 8,003,967UniSTS
GeneMap99-GB4 RH Map1753.9UniSTS
Whitehead-RH Map1780.0UniSTS
RH92475  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,218,581 - 137,218,736UniSTSGRCh37
Build 365137,246,480 - 137,246,635RGDNCBI36
Celera5133,340,878 - 133,341,033RGD
Cytogenetic Map5q31UniSTS
HuRef5132,410,399 - 132,410,554UniSTS
GeneMap99-GB4 RH Map5524.46UniSTS
RH103150  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,223,267 - 137,223,456UniSTSGRCh37
Build 365137,251,166 - 137,251,355RGDNCBI36
Celera5133,345,564 - 133,345,753RGD
Cytogenetic Map5q31UniSTS
HuRef5132,415,085 - 132,415,274UniSTS
GeneMap99-GB4 RH Map5524.56UniSTS
D5S1563E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,222,603 - 137,222,936UniSTSGRCh37
Build 365137,250,502 - 137,250,835RGDNCBI36
Celera5133,344,900 - 133,345,233RGD
Cytogenetic Map5q31UniSTS
HuRef5132,414,421 - 132,414,754UniSTS
D5S1579E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,217,729 - 137,219,109UniSTSGRCh37
Build 365137,245,628 - 137,247,008RGDNCBI36
Celera5133,340,026 - 133,341,406RGD
Cytogenetic Map5q31UniSTS
HuRef5132,409,547 - 132,410,927UniSTS
RH47863  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,212,568 - 137,212,712UniSTSGRCh37
Build 365137,240,467 - 137,240,611RGDNCBI36
Celera5133,334,864 - 133,335,008RGD
Cytogenetic Map5q31UniSTS
HuRef5132,404,386 - 132,404,530UniSTS
GeneMap99-GB4 RH Map5524.56UniSTS
TTID_3933  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,222,956 - 137,223,687UniSTSGRCh37
Build 365137,250,855 - 137,251,586RGDNCBI36
Celera5133,345,253 - 133,345,984RGD
HuRef5132,414,774 - 132,415,505UniSTS
RH67872  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh375137,223,250 - 137,223,508UniSTSGRCh37
Build 365137,251,149 - 137,251,407RGDNCBI36
Celera5133,345,547 - 133,345,805RGD
Cytogenetic Map5q31UniSTS
HuRef5132,415,068 - 132,415,326UniSTS
GeneMap99-GB4 RH Map5522.43UniSTS


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 232 235 232
Medium 626 307 8 42 21 957 1014 444 3 103 12 44 1 7 947 1
Low 1574 1937 1235 199 1066 79 2525 862 3167 293 1075 984 124 984 1432 2 1
Below cutoff 112 657 360 290 675 288 605 45 63 82 200 463 5 213 177 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001135940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001300911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006790 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017010062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054353825 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC106791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF133820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF144477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307620 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312733 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY689130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA896167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF459595 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178477 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OM273713 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000239926   ⟹   ENSP00000239926
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,867,860 - 137,887,851 (+)Ensembl
RefSeq Acc Id: ENST00000421631   ⟹   ENSP00000391185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,867,858 - 137,887,537 (+)Ensembl
RefSeq Acc Id: ENST00000503748
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,880,618 - 137,883,584 (+)Ensembl
RefSeq Acc Id: ENST00000508938
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,886,700 - 137,887,569 (+)Ensembl
RefSeq Acc Id: ENST00000509812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,867,860 - 137,886,104 (+)Ensembl
RefSeq Acc Id: ENST00000511254
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,880,615 - 137,886,167 (+)Ensembl
RefSeq Acc Id: ENST00000511625
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,867,860 - 137,876,194 (+)Ensembl
RefSeq Acc Id: ENST00000515645   ⟹   ENSP00000426281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl5137,867,876 - 137,887,528 (+)Ensembl
RefSeq Acc Id: NM_001135940   ⟹   NP_001129412
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385137,867,860 - 137,887,851 (+)NCBI
GRCh375137,203,536 - 137,223,540 (+)NCBI
HuRef5132,395,358 - 132,415,358 (+)ENTREZGENE
CHM1_15136,636,150 - 136,656,170 (+)NCBI
T2T-CHM13v2.05138,394,286 - 138,414,287 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001300911   ⟹   NP_001287840
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385137,867,860 - 137,887,851 (+)NCBI
CHM1_15136,636,150 - 136,656,170 (+)NCBI
T2T-CHM13v2.05138,394,286 - 138,414,287 (+)NCBI
Sequence:
RefSeq Acc Id: NM_006790   ⟹   NP_006781
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385137,867,860 - 137,887,851 (+)NCBI
GRCh375137,203,536 - 137,223,540 (+)NCBI
Build 365137,231,473 - 137,251,440 (+)NCBI Archive
HuRef5132,395,358 - 132,415,358 (+)ENTREZGENE
CHM1_15136,636,150 - 136,656,170 (+)NCBI
T2T-CHM13v2.05138,394,286 - 138,414,287 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017010061   ⟹   XP_016865550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh385137,875,914 - 137,887,851 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054353825   ⟹   XP_054209800
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.05138,402,349 - 138,414,287 (+)NCBI
RefSeq Acc Id: NP_006781   ⟸   NM_006790
- Peptide Label: isoform a
- UniProtKB: B4DT79 (UniProtKB/Swiss-Prot),   A0A4R6 (UniProtKB/Swiss-Prot),   Q9UBF9 (UniProtKB/Swiss-Prot),   A0A0C4DFM5 (UniProtKB/TrEMBL),   A0A0S2Z522 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001129412   ⟸   NM_001135940
- Peptide Label: isoform b
- UniProtKB: Q9UBF9 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001287840   ⟸   NM_001300911
- Peptide Label: isoform c
- UniProtKB: B4DT68 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016865550   ⟸   XM_017010061
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: ENSP00000391185   ⟸   ENST00000421631
RefSeq Acc Id: ENSP00000239926   ⟸   ENST00000239926
RefSeq Acc Id: ENSP00000426281   ⟸   ENST00000515645
RefSeq Acc Id: XP_054209800   ⟸   XM_054353825
- Peptide Label: isoform X1
Protein Domains
Ig-like   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9UBF9-F1-model_v2 AlphaFold Q9UBF9 1-498 view protein structure

Promoters
RGD ID:6853520
Promoter ID:EP74587
Type:initiation region
Name:HS_TTID
Description:Titin immunoglobulin domain protein (myotilin).
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 365137,231,464 - 137,231,524EPD
RGD ID:6870670
Promoter ID:EPDNEW_H8500
Type:initiation region
Name:MYOT_1
Description:myotilin
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh385137,867,860 - 137,867,920EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12399 AgrOrtholog
COSMIC MYOT COSMIC
Ensembl Genes ENSG00000120729 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000239926 ENTREZGENE
  ENST00000239926.9 UniProtKB/TrEMBL
  ENST00000421631 ENTREZGENE
  ENST00000421631.6 UniProtKB/Swiss-Prot
  ENST00000515645 ENTREZGENE
  ENST00000515645.1 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120729 GTEx
HGNC ID HGNC:12399 ENTREZGENE
Human Proteome Map MYOT Human Proteome Map
InterPro Basigin-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9499 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 9499 ENTREZGENE
OMIM 604103 OMIM
PANTHER BASIGIN RELATED UniProtKB/Swiss-Prot
  MYOTILIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10075 UniProtKB/TrEMBL
Pfam I-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37064 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART IGc2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SM00409 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0C4DFM5 ENTREZGENE, UniProtKB/TrEMBL
  A0A0S2Z4Y0_HUMAN UniProtKB/TrEMBL
  A0A0S2Z522 ENTREZGENE, UniProtKB/TrEMBL
  A0A4R6 ENTREZGENE
  B4DT68 ENTREZGENE, UniProtKB/TrEMBL
  B4DT79 ENTREZGENE
  MYOTI_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary A0A4R6 UniProtKB/Swiss-Prot
  B4DT79 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 MYOT  myotilin  LGMD1A  limb-girdle muscular dystrophy 1A (autosomal dominant)  Data merged from RGD:1344656 737654 PROVISIONAL