TNPO3 (transportin 3) - Rat Genome Database

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Gene: TNPO3 (transportin 3) Homo sapiens
Analyze
Symbol: TNPO3
Name: transportin 3
RGD ID: 1318997
HGNC Page HGNC:17103
Description: Enables identical protein binding activity and small GTPase binding activity. Involved in protein import into nucleus. Located in annulate lamellae; cytosol; and nucleus. Implicated in autosomal dominant limb-girdle muscular dystrophy type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: imp12; importin 12; importin-12; IPO12; LGMD1F; LGMDD2; limb girdle muscular dystrophy 1F (autosomal dominant); MTR10A; transportin-3; transportin-SR; TRN-SR; TRN-SR2; TRNSR
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: TNPO3P1   TNPO3P2  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387128,954,185 - 129,056,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7128,954,180 - 129,055,173 (-)EnsemblGRCh38hg38GRCh38
GRCh377128,594,239 - 128,695,165 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367128,382,184 - 128,482,434 (-)NCBINCBI36Build 36hg18NCBI36
Build 347128,188,898 - 128,289,149NCBI
Celera7123,390,730 - 123,491,720 (-)NCBICelera
Cytogenetic Map7q32.1NCBI
HuRef7122,955,420 - 123,056,377 (-)NCBIHuRef
CHM1_17128,527,540 - 128,628,528 (-)NCBICHM1_1
T2T-CHM13v2.07130,267,070 - 130,368,954 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27127,977,977 - 128,078,965 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
annulate lamellae  (IDA)
cytoplasm  (IBA,IEA)
cytosol  (IDA)
nuclear envelope  (IDA,IEA)
nucleoplasm  (IDA)
nucleus  (IEA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal circulating lipid concentration  (IAGP)
Abnormal intrahepatic bile duct morphology  (IAGP)
Abnormality of the thyroid gland  (IAGP)
Adult onset  (IAGP)
Antimitochondrial antibody positivity  (IAGP)
Antinuclear antibody positivity  (IAGP)
Ascites  (IAGP)
Autoimmunity  (IAGP)
Autophagic vacuoles  (IAGP)
Autosomal dominant inheritance  (IAGP)
Biliary cirrhosis  (IAGP)
Celiac disease  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Cirrhosis  (IAGP)
Conjugated hyperbilirubinemia  (IAGP)
Delayed ability to walk  (IAGP)
Dermatographic urticaria  (IAGP)
Difficulty climbing stairs  (IAGP)
Difficulty running  (IAGP)
Distal muscle weakness  (IAGP)
Dysphagia  (IAGP)
Elevated circulating alkaline phosphatase concentration  (IAGP)
Elevated circulating creatine concentration  (IAGP)
Elevated gamma-glutamyltransferase level  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Esophageal varix  (IAGP)
Excessive daytime somnolence  (IAGP)
Fatigue  (IAGP)
Gastrointestinal inflammation  (IAGP)
Hepatic encephalopathy  (IAGP)
Hepatic failure  (IAGP)
Hepatic fibrosis  (IAGP)
Hepatitis  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hypercholesterolemia  (IAGP)
Hyperpigmentation of the skin  (IAGP)
Hypoalbuminemia  (IAGP)
Increased circulating IgA concentration  (IAGP)
Increased circulating IgM level  (IAGP)
Increased endomysial connective tissue  (IAGP)
Jaundice  (IAGP)
Joint contracture  (IAGP)
Juvenile onset  (IAGP)
Motor delay  (IAGP)
Muscular dystrophy  (IAGP)
Onychomycosis  (IAGP)
Orthostatic hypotension  (IAGP)
Osteoporosis  (IAGP)
Pelvic girdle muscle weakness  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Portal hypertension  (IAGP)
Pruritus  (IAGP)
Ptosis  (IAGP)
Recurrent fungal infections  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Rimmed vacuoles  (IAGP)
Scapular winging  (IAGP)
Shoulder girdle muscle weakness  (IAGP)
Sleep abnormality  (IAGP)
Spinal rigidity  (IAGP)
Splenomegaly  (IAGP)
Steatorrhea  (IAGP)
Xanthelasma  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
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:8125298   PMID:10366588   PMID:10713112   PMID:11517331   PMID:12134081   PMID:12477932   PMID:12628928   PMID:12690205   PMID:12913210   PMID:14702039   PMID:15231748   PMID:15316618  
PMID:15489334   PMID:15829567   PMID:16344560   PMID:16730941   PMID:17110338   PMID:17353931   PMID:18029348   PMID:18187620   PMID:18204098   PMID:18204446   PMID:18722123   PMID:18727908  
PMID:18854154   PMID:19232540   PMID:19275582   PMID:19322201   PMID:19458352   PMID:19479858   PMID:19615732   PMID:19846519   PMID:20379614   PMID:20383147   PMID:20453842   PMID:20639879  
PMID:20639880   PMID:20719241   PMID:20861858   PMID:21083892   PMID:21276267   PMID:21297633   PMID:21326825   PMID:21399635   PMID:21408207   PMID:21409951   PMID:21651489   PMID:21750679  
PMID:21779181   PMID:21873635   PMID:21901095   PMID:21976634   PMID:21976643   PMID:22028839   PMID:22145813   PMID:22174692   PMID:22176773   PMID:22291694   PMID:22398280   PMID:22509482  
PMID:22658674   PMID:22762018   PMID:22863883   PMID:22872638   PMID:22872640   PMID:22895508   PMID:22928108   PMID:22939629   PMID:22956906   PMID:23053960   PMID:23087682   PMID:23097435  
PMID:23128233   PMID:23181366   PMID:23383273   PMID:23414560   PMID:23543484   PMID:23602568   PMID:23622145   PMID:23667531   PMID:23667635   PMID:23740937   PMID:23878195   PMID:23956138  
PMID:24051001   PMID:24103892   PMID:24449914   PMID:24525292   PMID:24559861   PMID:24797263   PMID:24871463   PMID:25036886   PMID:25063804   PMID:25147212   PMID:25205108   PMID:25517934  
PMID:25544563   PMID:25731773   PMID:25737280   PMID:25921289   PMID:26109731   PMID:26186194   PMID:26344197   PMID:26496610   PMID:26586435   PMID:26618866   PMID:27173435   PMID:27432908  
PMID:27783955   PMID:28302793   PMID:28356354   PMID:28380382   PMID:28514442   PMID:28675297   PMID:28685749   PMID:29117863   PMID:29180619   PMID:29229926   PMID:29507755   PMID:29509190  
PMID:30463901   PMID:30554943   PMID:30833792   PMID:30884312   PMID:30916345   PMID:31064840   PMID:31071488   PMID:31073040   PMID:31091453   PMID:31192305   PMID:31341054   PMID:31421124  
PMID:31465518   PMID:32296183   PMID:32344865   PMID:32513696   PMID:32545337   PMID:32581109   PMID:32683582   PMID:32707033   PMID:32807901   PMID:32941674   PMID:33060197   PMID:33239621  
PMID:33545068   PMID:33742100   PMID:33961781   PMID:34079125   PMID:34189442   PMID:34373451   PMID:34591612   PMID:34612665   PMID:34709727   PMID:34718347   PMID:35013556   PMID:35241646  
PMID:35271311   PMID:35384245   PMID:35439318   PMID:35456945   PMID:35563538   PMID:35748872   PMID:35831314   PMID:35944360   PMID:36114006   PMID:36180527   PMID:36215168   PMID:36243803  
PMID:36634849   PMID:36931259   PMID:37254791   PMID:37516964   PMID:37723588   PMID:37768083   PMID:37827155   PMID:37839992  


Genomics

Comparative Map Data
TNPO3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh387128,954,185 - 129,056,193 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl7128,954,180 - 129,055,173 (-)EnsemblGRCh38hg38GRCh38
GRCh377128,594,239 - 128,695,165 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 367128,382,184 - 128,482,434 (-)NCBINCBI36Build 36hg18NCBI36
Build 347128,188,898 - 128,289,149NCBI
Celera7123,390,730 - 123,491,720 (-)NCBICelera
Cytogenetic Map7q32.1NCBI
HuRef7122,955,420 - 123,056,377 (-)NCBIHuRef
CHM1_17128,527,540 - 128,628,528 (-)NCBICHM1_1
T2T-CHM13v2.07130,267,070 - 130,368,954 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v27127,977,977 - 128,078,965 (-)NCBI
Tnpo3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39629,540,826 - 29,609,918 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl629,540,826 - 29,609,886 (-)EnsemblGRCm39 Ensembl
GRCm38629,540,827 - 29,609,858 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl629,540,827 - 29,609,887 (-)EnsemblGRCm38mm10GRCm38
MGSCv37629,490,827 - 29,559,607 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36629,490,837 - 29,559,617 (-)NCBIMGSCv36mm8
Celera629,549,675 - 29,618,438 (-)NCBICelera
Cytogenetic Map6A3.3NCBI
cM Map612.36NCBI
Tnpo3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8459,108,278 - 59,197,012 (-)NCBIGRCr8
mRatBN7.2458,142,954 - 58,220,365 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl458,143,001 - 58,220,433 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx463,126,422 - 63,203,551 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0459,042,589 - 59,119,719 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0457,444,471 - 57,521,602 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0456,820,023 - 56,897,310 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl456,820,023 - 56,897,338 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0456,587,184 - 56,664,471 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4456,422,446 - 56,499,733 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1456,682,348 - 56,760,325 (-)NCBI
Celera453,250,776 - 53,328,057 (-)NCBICelera
Cytogenetic Map4q22NCBI
Tnpo3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554799,740,805 - 9,831,339 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554799,739,927 - 9,831,276 (-)NCBIChiLan1.0ChiLan1.0
TNPO3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v26165,758,971 - 165,863,548 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1717,769,217 - 17,871,151 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v07120,906,238 - 121,008,216 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.17133,430,495 - 133,531,771 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl7133,430,490 - 133,531,774 (-)Ensemblpanpan1.1panPan2
TNPO3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1147,639,276 - 7,722,453 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl147,639,558 - 7,722,351 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha147,326,495 - 7,409,297 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0147,405,066 - 7,488,297 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl147,405,082 - 7,489,141 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1147,610,134 - 7,693,338 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0147,352,085 - 7,435,363 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0147,497,117 - 7,580,541 (+)NCBIUU_Cfam_GSD_1.0
Tnpo3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511825,915,334 - 26,001,614 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365796,047,351 - 6,134,583 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365796,047,900 - 6,134,211 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TNPO3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1819,572,776 - 19,673,163 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11819,572,555 - 19,673,165 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21820,641,615 - 20,742,751 (+)NCBISscrofa10.2Sscrofa10.2susScr3
TNPO3
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12197,554,484 - 97,654,289 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2197,553,519 - 97,653,889 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_0236660425,747,926 - 5,847,780 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Tnpo3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247837,168,867 - 7,261,261 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247837,168,865 - 7,261,008 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TNPO3
658 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012470.4(TNPO3):c.2186G>C (p.Cys729Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000547054] Chr7:128974955 [GRCh38]
Chr7:128615009 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh38/hg38 7q32.1-33(chr7:128747478-134018250)x3 copy number gain See cases [RCV000051072] Chr7:128747478..134018250 [GRCh38]
Chr7:128387532..133703003 [GRCh37]
Chr7:128174768..133353543 [NCBI36]
Chr7:7q32.1-33		 pathogenic
NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003139740]|not provided [RCV000726729] Chr7:128986857 [GRCh38]
Chr7:128626911 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.534T>C (p.Ser178=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003768192]|not provided [RCV000729865] Chr7:129014997 [GRCh38]
Chr7:128655051 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640541] Chr7:128990057 [GRCh38]
Chr7:128630111 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1371A>G (p.Pro457=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640550] Chr7:128990088 [GRCh38]
Chr7:128630142 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.232C>G (p.Leu78Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000543405] Chr7:129018046 [GRCh38]
Chr7:128658100 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2667A>G (p.Thr889=) single nucleotide variant not provided [RCV000727825] Chr7:128967324 [GRCh38]
Chr7:128607378 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1241T>C (p.Ile414Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000551064] Chr7:128993832 [GRCh38]
Chr7:128633886 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.3(TNPO3):c.2598+1080A>G single nucleotide variant Lung cancer [RCV000105600] Chr7:128969068 [GRCh38]
Chr7:128609122 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh38/hg38 7q31.2-33(chr7:117326805-134790689)x1 copy number loss See cases [RCV000138226] Chr7:117326805..134790689 [GRCh38]
Chr7:116966859..134475440 [GRCh37]
Chr7:116754095..134125980 [NCBI36]
Chr7:7q31.2-33		 pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q31.33-32.3(chr7:126859732-132750936)x1 copy number loss See cases [RCV000054171] Chr7:126859732..132750936 [GRCh38]
Chr7:126499786..132435696 [GRCh37]
Chr7:126287022..132086236 [NCBI36]
Chr7:7q31.33-32.3		 pathogenic
NM_012470.3(TNPO3):c.1497T>A (p.Leu499=) single nucleotide variant Malignant melanoma [RCV000061558] Chr7:128989962 [GRCh38]
Chr7:128630016 [GRCh37]
Chr7:128417252 [NCBI36]
Chr7:7q32.1		 not provided
NM_012470.3(TNPO3):c.824C>T (p.Thr275Ile) single nucleotide variant Malignant melanoma [RCV000061559] Chr7:129001107 [GRCh38]
Chr7:128641161 [GRCh37]
Chr7:128428397 [NCBI36]
Chr7:7q32.1		 not provided
NM_012470.4(TNPO3):c.2771del (p.Ter924CysextTer?) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000122738] Chr7:128957256 [GRCh38]
Chr7:128597310 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_012470.4(TNPO3):c.2453G>C (p.Arg818Pro) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000122739] Chr7:128970293 [GRCh38]
Chr7:128610347 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_012470.4(TNPO3):c.44T>C (p.Val15Ala) single nucleotide variant not provided [RCV000173432] Chr7:129054727 [GRCh38]
Chr7:128694781 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3		 pathogenic
GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3 copy number gain See cases [RCV000136717] Chr7:97419852..158923762 [GRCh38]
Chr7:97049164..158716453 [GRCh37]
Chr7:96887100..158409214 [NCBI36]
Chr7:7q21.3-36.3		 pathogenic
GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3 copy number gain See cases [RCV000138847] Chr7:121863759..159335865 [GRCh38]
Chr7:121503813..159128555 [GRCh37]
Chr7:121291049..158821316 [NCBI36]
Chr7:7q31.32-36.3		 pathogenic
GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 copy number gain See cases [RCV000141413] Chr7:115459015..159325817 [GRCh38]
Chr7:115099069..159118507 [GRCh37]
Chr7:114886305..158811268 [NCBI36]
Chr7:7q31.2-36.3		 pathogenic
GRCh38/hg38 7q32.1(chr7:127817826-129237503)x3 copy number gain See cases [RCV000142106] Chr7:127817826..129237503 [GRCh38]
Chr7:127457880..128877344 [GRCh37]
Chr7:127245116..128664580 [NCBI36]
Chr7:7q32.1		 likely benign|uncertain significance
GRCh38/hg38 7q31.33-33(chr7:124170657-134163594)x1 copy number loss See cases [RCV000142552] Chr7:124170657..134163594 [GRCh38]
Chr7:123810711..133848346 [GRCh37]
Chr7:123597947..133498886 [NCBI36]
Chr7:7q31.33-33		 pathogenic
NM_012470.4(TNPO3):c.2326A>G (p.Ile776Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000531231]|Inborn genetic diseases [RCV002516677]|not provided [RCV000175457] Chr7:128972530 [GRCh38]
Chr7:128612584 [GRCh37]
Chr7:7q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.1179T>C (p.Thr393=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001469282]|not provided [RCV000180641] Chr7:128993894 [GRCh38]
Chr7:128633948 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2542del (p.Tyr848fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000794144]|not provided [RCV000255285]|not specified [RCV000791172] Chr7:128970204 [GRCh38]
Chr7:128610258 [GRCh37]
Chr7:7q32.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2768G>A (p.Arg923Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001860474]|not specified [RCV000626199] Chr7:128957259 [GRCh38]
Chr7:128597313 [GRCh37]
Chr7:7q32.1		 likely pathogenic|uncertain significance
NM_012470.4(TNPO3):c.321+16C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002058238]|not provided [RCV004712210]|not specified [RCV000251232] Chr7:129017941 [GRCh38]
Chr7:128657995 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2062-12T>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002058237]|not provided [RCV004712206]|not specified [RCV000253428] Chr7:128975947 [GRCh38]
Chr7:128616001 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1752A>G (p.Leu584=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001475589] Chr7:128984198 [GRCh38]
Chr7:128624252 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2358G>A (p.Leu786=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001511363]|not provided [RCV004712208]|not specified [RCV000241741] Chr7:128972498 [GRCh38]
Chr7:128612552 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2661C>T (p.Ala887=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001516969]|not provided [RCV004712209]|not specified [RCV000244863] Chr7:128967330 [GRCh38]
Chr7:128607384 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2280T>C (p.Ile760=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640549]|not provided [RCV001705369]|not specified [RCV000249981] Chr7:128972576 [GRCh38]
Chr7:128612630 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.1256delinsAA (p.Cys419Ter) indel Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000527330] Chr7:128993817 [GRCh38]
Chr7:128633871 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2205C>T (p.Leu735=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001511364]|not provided [RCV004712207]|not specified [RCV000245203] Chr7:128974936 [GRCh38]
Chr7:128614990 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.759C>G (p.Leu253=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001516970]|not provided [RCV004712211]|not specified [RCV000247837] Chr7:129001172 [GRCh38]
Chr7:128641226 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001087184]|not provided [RCV000725583]|not specified [RCV000243079] Chr7:129005130 [GRCh38]
Chr7:128645184 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.1549T>G (p.Ser517Ala) single nucleotide variant not provided [RCV000273019] Chr7:128986870 [GRCh38]
Chr7:128626924 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1851G>T (p.Val617=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001417526]|not provided [RCV000306426] Chr7:128982256 [GRCh38]
Chr7:128622310 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.934T>A (p.Cys312Ser) single nucleotide variant not provided [RCV000309142] Chr7:129000506 [GRCh38]
Chr7:128640560 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.696+8A>G single nucleotide variant not provided [RCV000341134] Chr7:129005008 [GRCh38]
Chr7:128645062 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.332C>T (p.Ala111Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005090397]|not provided [RCV000377449] Chr7:129017046 [GRCh38]
Chr7:128657100 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2T>C (p.Met1Thr) single nucleotide variant not provided [RCV000276300] Chr7:129054769 [GRCh38]
Chr7:128694823 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1961C>T (p.Ala654Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001247373]|Inborn genetic diseases [RCV004678668]|not provided [RCV000378157] Chr7:128979083 [GRCh38]
Chr7:128619137 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.478C>T (p.Arg160Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005090389]|not provided [RCV000378651] Chr7:129015053 [GRCh38]
Chr7:128655107 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001064006]|not provided [RCV000312736] Chr7:128982297 [GRCh38]
Chr7:128622351 [GRCh37]
Chr7:7q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.574G>C (p.Gly192Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001057475]|Inborn genetic diseases [RCV004965379]|not provided [RCV000280873] Chr7:129005138 [GRCh38]
Chr7:128645192 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001083910]|TNPO3-related disorder [RCV003930075]|not provided [RCV000725208] Chr7:129018003 [GRCh38]
Chr7:128658057 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.804A>G (p.Gln268=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002059262]|not provided [RCV000315026] Chr7:129001127 [GRCh38]
Chr7:128641181 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.704A>T (p.Asp235Val) single nucleotide variant not provided [RCV000387374] Chr7:129001227 [GRCh38]
Chr7:128641281 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.318G>A (p.Thr106=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001080141]|not provided [RCV000285804] Chr7:129017960 [GRCh38]
Chr7:128658014 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2070T>C (p.Asn690=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005090346]|not provided [RCV000318744] Chr7:128975927 [GRCh38]
Chr7:128615981 [GRCh37]
Chr7:7q32.1		 benign|uncertain significance
NM_012470.4(TNPO3):c.234C>T (p.Leu78=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001079515]|not provided [RCV000355049] Chr7:129018044 [GRCh38]
Chr7:128658098 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2079C>T (p.His693=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001493425]|not provided [RCV000355424] Chr7:128975918 [GRCh38]
Chr7:128615972 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2274-10del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000555218]|not provided [RCV001697705]|not specified [RCV000355123] Chr7:128972592 [GRCh38]
Chr7:128612646 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.1782G>A (p.Lys594=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000805771]|not provided [RCV000289124] Chr7:128984168 [GRCh38]
Chr7:128624222 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1367A>G (p.Asn456Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001308077]|Inborn genetic diseases [RCV002519173]|not provided [RCV000321583] Chr7:128990092 [GRCh38]
Chr7:128630146 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.437T>A (p.Ile146Asn) single nucleotide variant not provided [RCV000357266] Chr7:129015094 [GRCh38]
Chr7:128655148 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2141A>T (p.Glu714Val) single nucleotide variant not provided [RCV000291390] Chr7:128975856 [GRCh38]
Chr7:128615910 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2625C>T (p.Ser875=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001086133]|not provided [RCV000358615] Chr7:128967366 [GRCh38]
Chr7:128607420 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2520C>G (p.Thr840=) single nucleotide variant not provided [RCV000395433] Chr7:128970226 [GRCh38]
Chr7:128610280 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2431-6A>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000536717]|not specified [RCV000259480] Chr7:128970321 [GRCh38]
Chr7:128610375 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.1531T>C (p.Cys511Arg) single nucleotide variant not provided [RCV000326453] Chr7:128986888 [GRCh38]
Chr7:128626942 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2611T>C (p.Trp871Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746512]|not provided [RCV000327297] Chr7:128967380 [GRCh38]
Chr7:128607434 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.-9G>A single nucleotide variant not specified [RCV000399732] Chr7:129054779 [GRCh38]
Chr7:128694833 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.1403G>A (p.Arg468His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001208349]|not provided [RCV000261170] Chr7:128990056 [GRCh38]
Chr7:128630110 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.802C>A (p.Gln268Lys) single nucleotide variant not provided [RCV000327799] Chr7:129001129 [GRCh38]
Chr7:128641183 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2274-5A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001078657]|not provided [RCV000326809] Chr7:128972587 [GRCh38]
Chr7:128612641 [GRCh37]
Chr7:7q32.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.1636C>T (p.Arg546Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001041637]|not provided [RCV000725506] Chr7:128986783 [GRCh38]
Chr7:128626837 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.857G>A (p.Arg286His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001080992]|not provided [RCV000725631] Chr7:129001074 [GRCh38]
Chr7:128641128 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2431-2A>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003137891]|not provided [RCV000366047] Chr7:128970317 [GRCh38]
Chr7:128610371 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1185C>A (p.Asp395Glu) single nucleotide variant not provided [RCV000366643] Chr7:128993888 [GRCh38]
Chr7:128633942 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2652C>T (p.Thr884=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000560183]|TNPO3-related disorder [RCV003947852]|not provided [RCV001697634]|not specified [RCV000403308] Chr7:128967339 [GRCh38]
Chr7:128607393 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.2599-6A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000544659]|TNPO3-related disorder [RCV004754371]|not provided [RCV000401291] Chr7:128967398 [GRCh38]
Chr7:128607452 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2572T>C (p.Trp858Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002518129]|not provided [RCV000265389] Chr7:128970174 [GRCh38]
Chr7:128610228 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2655G>A (p.Val885=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001510378]|not provided [RCV004712235]|not specified [RCV000368138] Chr7:128967336 [GRCh38]
Chr7:128607390 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001083635]|TNPO3-related disorder [RCV003967715]|not provided [RCV000725088] Chr7:128957286 [GRCh38]
Chr7:128597340 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.943G>C (p.Gly315Arg) single nucleotide variant not provided [RCV000334809] Chr7:129000497 [GRCh38]
Chr7:128640551 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.906A>G (p.Leu302=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001088545]|not provided [RCV000371444] Chr7:129000534 [GRCh38]
Chr7:128640588 [GRCh37]
Chr7:7q32.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.1607A>C (p.Gln536Pro) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746511]|not provided [RCV000406853] Chr7:128986812 [GRCh38]
Chr7:128626866 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1782+2dup duplication not specified [RCV000489177] Chr7:128984165..128984166 [GRCh38]
Chr7:128624219..128624220 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1365C>G (p.Asn455Lys) single nucleotide variant not provided [RCV000595413] Chr7:128990094 [GRCh38]
Chr7:128630148 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.747A>G (p.Val249=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002065152]|not provided [RCV000596873] Chr7:129001184 [GRCh38]
Chr7:128641238 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2662G>A (p.Val888Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001232652]|Inborn genetic diseases [RCV004678755]|not provided [RCV000596430] Chr7:128967329 [GRCh38]
Chr7:128607383 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1409C>T (p.Pro470Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000551983]|not provided [RCV002292562] Chr7:128990050 [GRCh38]
Chr7:128630104 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.30C>T (p.Leu10=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002062035]|not provided [RCV000726941] Chr7:129054741 [GRCh38]
Chr7:128694795 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.862G>C (p.Asp288His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003139896]|not provided [RCV000591906] Chr7:129001069 [GRCh38]
Chr7:128641123 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002531046]|Inborn genetic diseases [RCV004965593]|TNPO3-related disorder [RCV004754486]|not provided [RCV000592560] Chr7:129000475 [GRCh38]
Chr7:128640529 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1421A>G (p.His474Arg) single nucleotide variant not provided [RCV000522901] Chr7:128990038 [GRCh38]
Chr7:128630092 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1824C>T (p.Pro608=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584735]|not provided [RCV000730716] Chr7:128982283 [GRCh38]
Chr7:128622337 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2452C>T (p.Arg818Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002532442]|not provided [RCV000593735] Chr7:128970294 [GRCh38]
Chr7:128610348 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1104C>T (p.Tyr368=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005091576]|not provided [RCV000593755] Chr7:128997443 [GRCh38]
Chr7:128637497 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000704253]|not provided [RCV000593810] Chr7:129000465 [GRCh38]
Chr7:128640519 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2061+17C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002062956]|not specified [RCV000604980] Chr7:128978966 [GRCh38]
Chr7:128619020 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.552+9G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640548] Chr7:129014970 [GRCh38]
Chr7:128655024 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1410G>A (p.Pro470=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000532532] Chr7:128990049 [GRCh38]
Chr7:128630103 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2152C>T (p.Arg718Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640542] Chr7:128975845 [GRCh38]
Chr7:128615899 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1818A>T (p.Ser606=) single nucleotide variant not provided [RCV000592104] Chr7:128982289 [GRCh38]
Chr7:128622343 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.160C>T (p.Arg54Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141727]|not provided [RCV000730001] Chr7:129018118 [GRCh38]
Chr7:128658172 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1453G>A (p.Val485Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001046205]|not provided [RCV000730638] Chr7:128990006 [GRCh38]
Chr7:128630060 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2306G>A (p.Arg769Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002067084]|not provided [RCV000728304] Chr7:128972550 [GRCh38]
Chr7:128612604 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.282C>A (p.Ile94=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005056488]|not provided [RCV000731997] Chr7:129017996 [GRCh38]
Chr7:128658050 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.57C>T (p.Tyr19=) single nucleotide variant not provided [RCV000594150] Chr7:129054714 [GRCh38]
Chr7:128694768 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2718G>A (p.Glu906=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002067117]|not provided [RCV000731375] Chr7:128957309 [GRCh38]
Chr7:128597363 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1481G>A (p.Arg494Gln) single nucleotide variant not provided [RCV000733257] Chr7:128989978 [GRCh38]
Chr7:128630032 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1927C>T (p.Pro643Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000553185] Chr7:128979117 [GRCh38]
Chr7:128619171 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1122C>T (p.His374=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002061010]|not provided [RCV000732485] Chr7:128997425 [GRCh38]
Chr7:128637479 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1256G>A (p.Cys419Tyr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000539787] Chr7:128993817 [GRCh38]
Chr7:128633871 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2708C>G (p.Thr903Ser) single nucleotide variant Inborn genetic diseases [RCV004678809]|not provided [RCV000731686] Chr7:128967283 [GRCh38]
Chr7:128607337 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1866C>T (p.Thr622=) single nucleotide variant not provided [RCV000732774] Chr7:128980025 [GRCh38]
Chr7:128620079 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2653G>A (p.Val885Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001862135]|not provided [RCV000728011] Chr7:128967338 [GRCh38]
Chr7:128607392 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1359-5C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001465926]|not provided [RCV000728215] Chr7:128990105 [GRCh38]
Chr7:128630159 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012470.4(TNPO3):c.2061+18G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002059918]|not specified [RCV000434311] Chr7:128978965 [GRCh38]
Chr7:128619019 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2273+16G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002058936]|not specified [RCV000420883] Chr7:128974852 [GRCh38]
Chr7:128614906 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.148T>C (p.Leu50=) single nucleotide variant not specified [RCV000424134] Chr7:129018130 [GRCh38]
Chr7:128658184 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+17C>A single nucleotide variant not specified [RCV000431656] Chr7:128978966 [GRCh38]
Chr7:128619020 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1209A>G (p.Val403=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001474861]|not specified [RCV000435026] Chr7:128993864 [GRCh38]
Chr7:128633918 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.-36A>G single nucleotide variant not specified [RCV000435069] Chr7:129054806 [GRCh38]
Chr7:128694860 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.873-3C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001054530]|TNPO3-related disorder [RCV003970208]|not specified [RCV000438675] Chr7:129000570 [GRCh38]
Chr7:128640624 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.738G>A (p.Ser246=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002525413]|not specified [RCV000424973] Chr7:129001193 [GRCh38]
Chr7:128641247 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.120+9C>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001087732]|not provided [RCV000726695]|not specified [RCV000435625] Chr7:129054642 [GRCh38]
Chr7:128694696 [GRCh37]
Chr7:7q32.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.2154G>T (p.Arg718=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000530033]|not provided [RCV004712814]|not specified [RCV000430062] Chr7:128975843 [GRCh38]
Chr7:128615897 [GRCh37]
Chr7:7q32.1		 benign
GRCh37/hg19 7q22.1-36.3(chr7:98969247-159119707)x3 copy number gain See cases [RCV000447709] Chr7:98969247..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358)x1 copy number loss See cases [RCV000447722] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
GRCh37/hg19 7q32.1-36.3(chr7:128276078-159119707)x3 copy number gain See cases [RCV000447956] Chr7:128276078..159119707 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_012470.4(TNPO3):c.2676C>G (p.His892Gln) single nucleotide variant not provided [RCV000480279] Chr7:128967315 [GRCh38]
Chr7:128607369 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1090A>G (p.Ile364Val) single nucleotide variant not provided [RCV000514700] Chr7:128997457 [GRCh38]
Chr7:128637511 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1645G>A (p.Asp549Asn) single nucleotide variant not provided [RCV000498756] Chr7:128986774 [GRCh38]
Chr7:128626828 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012470.4(TNPO3):c.2351C>T (p.Thr784Ile) single nucleotide variant not provided [RCV000493801] Chr7:128972505 [GRCh38]
Chr7:128612559 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1358+1G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000698306] Chr7:128991998 [GRCh38]
Chr7:128632052 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.70C>T (p.Pro24Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000548989] Chr7:129054701 [GRCh38]
Chr7:128694755 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2256G>T (p.Leu752=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001402948]|not specified [RCV000603298] Chr7:128974885 [GRCh38]
Chr7:128614939 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.18G>C (p.Pro6=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640552] Chr7:129054753 [GRCh38]
Chr7:128694807 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+20A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005091714]|not specified [RCV000607927] Chr7:129000409 [GRCh38]
Chr7:128640463 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1873A>G (p.Ile625Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000540683] Chr7:128980018 [GRCh38]
Chr7:128620072 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.322-16A>G single nucleotide variant not specified [RCV000615979] Chr7:129017072 [GRCh38]
Chr7:128657126 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.996C>T (p.Gly332=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640544] Chr7:129000444 [GRCh38]
Chr7:128640498 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1521G>T (p.Met507Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640547] Chr7:128986898 [GRCh38]
Chr7:128626952 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2062-8C>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584669]|not provided [RCV000597713] Chr7:128975943 [GRCh38]
Chr7:128615997 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2385C>T (p.Val795=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584671]|not specified [RCV000606355] Chr7:128972471 [GRCh38]
Chr7:128612525 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1899G>A (p.Pro633=) single nucleotide variant not specified [RCV000608747] Chr7:128979992 [GRCh38]
Chr7:128620046 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1158+17A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002066533]|not provided [RCV004707373]|not specified [RCV000614632] Chr7:128997372 [GRCh38]
Chr7:128637426 [GRCh37]
Chr7:7q32.1		 benign|likely benign
NM_012470.4(TNPO3):c.189T>C (p.Ala63=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002530958]|TNPO3-related disorder [RCV003962660]|not provided [RCV000594319] Chr7:129018089 [GRCh38]
Chr7:128658143 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640543]|Inborn genetic diseases [RCV002529987] Chr7:128990042 [GRCh38]
Chr7:128630096 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2543A>G (p.Tyr848Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640545] Chr7:128970203 [GRCh38]
Chr7:128610257 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.28C>T (p.Leu10Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000640546] Chr7:129054743 [GRCh38]
Chr7:128694797 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.964C>T (p.Arg322Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003139900]|not provided [RCV000594897] Chr7:129000476 [GRCh38]
Chr7:128640530 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2406C>G (p.Leu802=) single nucleotide variant not specified [RCV000600956] Chr7:128972450 [GRCh38]
Chr7:128612504 [GRCh37]
Chr7:7q32.1		 likely benign
GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3 copy number gain not provided [RCV000682911] Chr7:98693388..159119707 [GRCh37]
Chr7:7q22.1-36.3		 pathogenic
NM_012470.4(TNPO3):c.2426A>G (p.Asn809Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000686052] Chr7:128972430 [GRCh38]
Chr7:128612484 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2711+287G>A single nucleotide variant not provided [RCV001566719] Chr7:128966993 [GRCh38]
Chr7:128607047 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.697-249C>T single nucleotide variant not provided [RCV001575061] Chr7:129001483 [GRCh38]
Chr7:128641537 [GRCh37]
Chr7:7q32.1		 likely benign
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
GRCh37/hg19 7q32.1(chr7:128542838-128817136)x3 copy number gain not provided [RCV000747045] Chr7:128542838..128817136 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1860-5C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001409566] Chr7:128980036 [GRCh38]
Chr7:128620090 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2599-268C>T single nucleotide variant not provided [RCV001577746] Chr7:128967660 [GRCh38]
Chr7:128607714 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+148T>A single nucleotide variant not provided [RCV001581199] Chr7:129000281 [GRCh38]
Chr7:128640335 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2712-267A>G single nucleotide variant not provided [RCV001546895] Chr7:128957582 [GRCh38]
Chr7:128597636 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001866056]|not provided [RCV001574740] Chr7:129000449 [GRCh38]
Chr7:128640503 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2545A>T (p.Thr849Ser) single nucleotide variant not provided [RCV000998928] Chr7:128970201 [GRCh38]
Chr7:128610255 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.714G>A (p.Ser238=) single nucleotide variant not provided [RCV000926443] Chr7:129001217 [GRCh38]
Chr7:128641271 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2175C>T (p.Leu725=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001470118] Chr7:128975822 [GRCh38]
Chr7:128615876 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2519C>A (p.Thr840Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001055266] Chr7:128970227 [GRCh38]
Chr7:128610281 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.182A>G (p.Tyr61Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001047409] Chr7:129018096 [GRCh38]
Chr7:128658150 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012470.4(TNPO3):c.952C>G (p.Leu318Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001038588] Chr7:129000488 [GRCh38]
Chr7:128640542 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2767del (p.Arg923fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000778113]|Muscular dystrophy, limb-girdle, autosomal dominant [RCV004797620] Chr7:128957260 [GRCh38]
Chr7:128597314 [GRCh37]
Chr7:7q32.1		 likely pathogenic|uncertain significance
NM_012470.4(TNPO3):c.1305G>A (p.Glu435=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001458687] Chr7:128992052 [GRCh38]
Chr7:128632106 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2034A>G (p.Ala678=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000931905] Chr7:128979010 [GRCh38]
Chr7:128619064 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+9T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001408733] Chr7:129000420 [GRCh38]
Chr7:128640474 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2076C>T (p.Tyr692=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001446639] Chr7:128975921 [GRCh38]
Chr7:128615975 [GRCh37]
Chr7:7q32.1		 likely benign
GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220) copy number gain not provided [RCV000767558] Chr7:128312450..159119220 [GRCh37]
Chr7:7q32.1-36.3		 pathogenic
NM_012470.4(TNPO3):c.2191C>T (p.Pro731Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV004813368] Chr7:128974950 [GRCh38]
Chr7:128615004 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2273+221_2273+230del deletion not provided [RCV000831538] Chr7:128974638..128974647 [GRCh38]
Chr7:128614692..128614701 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1783-303AAT[3] microsatellite not provided [RCV000833099] Chr7:128982616..128982618 [GRCh38]
Chr7:128622670..128622672 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1498+22T>C single nucleotide variant not provided [RCV000832111] Chr7:128989939 [GRCh38]
Chr7:128629993 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1011+295T>C single nucleotide variant not provided [RCV000827945] Chr7:129000134 [GRCh38]
Chr7:128640188 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2058A>G (p.Thr686=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001415095]|not provided [RCV000998929] Chr7:128978986 [GRCh38]
Chr7:128619040 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.395+206G>A single nucleotide variant not provided [RCV000829930] Chr7:129016777 [GRCh38]
Chr7:128656831 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.121-8G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001503201] Chr7:129018165 [GRCh38]
Chr7:128658219 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1216C>G (p.Leu406Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000803001] Chr7:128993857 [GRCh38]
Chr7:128633911 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.3:c.2274-5A>G single nucleotide variant not provided [RCV000826967] Chr7:128612641 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.396-246_396-245insA insertion not provided [RCV000829932] Chr7:129015380..129015381 [GRCh38]
Chr7:128655434..128655435 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.553-79T>G single nucleotide variant not provided [RCV000829940] Chr7:129005238 [GRCh38]
Chr7:128645292 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1921-238A>T single nucleotide variant not provided [RCV000829945] Chr7:128979361 [GRCh38]
Chr7:128619415 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2712-218A>C single nucleotide variant not provided [RCV000829962] Chr7:128957533 [GRCh38]
Chr7:128957533..128957534 [GRCh38]
Chr7:128597587 [GRCh37]
Chr7:128597587..128597588 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1859+209dup duplication not provided [RCV000829943] Chr7:128982034..128982035 [GRCh38]
Chr7:128622088..128622089 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2430+199dup duplication not provided [RCV000832112] Chr7:128972223..128972224 [GRCh38]
Chr7:128612277..128612278 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2178+156_2178+158del microsatellite not provided [RCV000834829] Chr7:128975661..128975663 [GRCh38]
Chr7:128615715..128615717 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1691-114T>A single nucleotide variant not provided [RCV000833750] Chr7:128984373 [GRCh38]
Chr7:128624427 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.553-300A>G single nucleotide variant not provided [RCV000827943] Chr7:129005459 [GRCh38]
Chr7:128645513 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.964C>A (p.Arg322=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000818456] Chr7:129000476 [GRCh38]
Chr7:128640530 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1690+226T>C single nucleotide variant not provided [RCV000834828] Chr7:128986503 [GRCh38]
Chr7:128626557 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2179-50T>C single nucleotide variant not provided [RCV000831537] Chr7:128975012 [GRCh38]
Chr7:128615066 [GRCh37]
Chr7:7q32.1		 benign
GRCh37/hg19 7q31.32-32.2(chr7:121480906-129389003)x1 copy number loss not provided [RCV000847911] Chr7:121480906..129389003 [GRCh37]
Chr7:7q31.32-32.2		 pathogenic
NM_012470.4(TNPO3):c.1011+190G>A single nucleotide variant not provided [RCV000829937] Chr7:129000239 [GRCh38]
Chr7:128640293 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.552+193A>T single nucleotide variant not provided [RCV000829938] Chr7:129014786 [GRCh38]
Chr7:128654840 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1782+149G>T single nucleotide variant not provided [RCV000829942] Chr7:128984019 [GRCh38]
Chr7:128624073 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2590G>A (p.Asp864Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000823857] Chr7:128970156 [GRCh38]
Chr7:128610210 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1712G>A (p.Arg571Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000795679] Chr7:128984238 [GRCh38]
Chr7:128624292 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1359-73G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001838641]|not provided [RCV000829381] Chr7:128990173 [GRCh38]
Chr7:128630227 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1090A>C (p.Ile364Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001862696]|not provided [RCV001091494] Chr7:128997457 [GRCh38]
Chr7:128637511 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.317C>T (p.Thr106Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000818532] Chr7:129017961 [GRCh38]
Chr7:128658015 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.553-7T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001417948] Chr7:129005166 [GRCh38]
Chr7:128645220 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+56T>C single nucleotide variant not provided [RCV001581747] Chr7:129000373 [GRCh38]
Chr7:128640427 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.608G>A (p.Arg203His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000801701] Chr7:129005104 [GRCh38]
Chr7:128645158 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.849C>T (p.Ala283=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000875082] Chr7:129001082 [GRCh38]
Chr7:128641136 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.753A>G (p.Ser251=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001431034] Chr7:129001178 [GRCh38]
Chr7:128641232 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.120+184C>G single nucleotide variant not provided [RCV000838592] Chr7:129054467 [GRCh38]
Chr7:128694521 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.-152G>A single nucleotide variant not provided [RCV000829914] Chr7:129054922 [GRCh38]
Chr7:128694976 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.322-167A>G single nucleotide variant not provided [RCV000829915] Chr7:129017223 [GRCh38]
Chr7:128657277 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.696+213G>A single nucleotide variant not provided [RCV000829934] Chr7:129004803 [GRCh38]
Chr7:128644857 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1011+149T>A single nucleotide variant not provided [RCV000829935] Chr7:129000280 [GRCh38]
Chr7:129000280..129000281 [GRCh38]
Chr7:128640334 [GRCh37]
Chr7:128640334..128640335 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1359-159A>G single nucleotide variant not provided [RCV000829939] Chr7:128990259 [GRCh38]
Chr7:128630313 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1266+139A>G single nucleotide variant not provided [RCV000829944] Chr7:128993668 [GRCh38]
Chr7:128633722 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1945C>T (p.Leu649=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001435033] Chr7:128979099 [GRCh38]
Chr7:128619153 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.3(TNPO3):c.-455T>C single nucleotide variant not provided [RCV000839576] Chr7:129055225 [GRCh38]
Chr7:128695279 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001426083] Chr7:128970201 [GRCh38]
Chr7:128610255 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000987974] Chr7:128992023 [GRCh38]
Chr7:128632077 [GRCh37]
Chr7:7q32.1		 likely pathogenic|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.250G>A (p.Ala84Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001248578] Chr7:129018028 [GRCh38]
Chr7:128658082 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1890G>C (p.Gln630His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001233144]|Inborn genetic diseases [RCV002563790] Chr7:128980001 [GRCh38]
Chr7:128620055 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1270T>A (p.Tyr424Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001209438] Chr7:128992087 [GRCh38]
Chr7:128632141 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.381A>C (p.Gln127His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001247617] Chr7:129016997 [GRCh38]
Chr7:128657051 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2061+179C>T single nucleotide variant not provided [RCV001551712] Chr7:128978804 [GRCh38]
Chr7:128618858 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.140C>G (p.Ser47Ter) single nucleotide variant not specified [RCV003317903] Chr7:129018138 [GRCh38]
Chr7:128658192 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2430+154A>G single nucleotide variant not provided [RCV001567495] Chr7:128972272 [GRCh38]
Chr7:128612326 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.553-146del deletion not provided [RCV001667983] Chr7:129005305 [GRCh38]
Chr7:128645359 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1012-326C>T single nucleotide variant not provided [RCV001588727] Chr7:128997861 [GRCh38]
Chr7:128637915 [GRCh37]
Chr7:7q32.1		 likely benign
NC_000007.14:g.129055497T>C single nucleotide variant not provided [RCV001583839] Chr7:129055497 [GRCh38]
Chr7:128695551 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+18dup duplication not provided [RCV001550704] Chr7:128978959..128978960 [GRCh38]
Chr7:128619013..128619014 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.553-116T>C single nucleotide variant not provided [RCV001557158] Chr7:129005275 [GRCh38]
Chr7:128645329 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1859+242C>G single nucleotide variant not provided [RCV001562286] Chr7:128982006 [GRCh38]
Chr7:128622060 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1842C>T (p.Arg614=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001484295] Chr7:128982265 [GRCh38]
Chr7:128622319 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2577G>A (p.Glu859=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000918979] Chr7:128970169 [GRCh38]
Chr7:128610223 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2481C>T (p.Asn827=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001444033] Chr7:128970265 [GRCh38]
Chr7:128610319 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.873-4A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001467238] Chr7:129000571 [GRCh38]
Chr7:128640625 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1416C>T (p.Thr472=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000872382]|TNPO3-related disorder [RCV003938314] Chr7:128990043 [GRCh38]
Chr7:128630097 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1086T>C (p.His362=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000895473] Chr7:128997461 [GRCh38]
Chr7:128637515 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2007dup (p.Val670fs) duplication Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001239632] Chr7:128979036..128979037 [GRCh38]
Chr7:128619090..128619091 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.320A>G (p.Gln107Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001234185] Chr7:129017958 [GRCh38]
Chr7:128658012 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1814C>G (p.Ser605Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001047408] Chr7:128982293 [GRCh38]
Chr7:128622347 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.259C>T (p.Arg87Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001225095] Chr7:129018019 [GRCh38]
Chr7:128658073 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1072G>A (p.Asp358Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001221583] Chr7:128997475 [GRCh38]
Chr7:128637529 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1640C>G (p.Ser547Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001241487] Chr7:128986779 [GRCh38]
Chr7:128626833 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.120+6G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV000890075] Chr7:129054645 [GRCh38]
Chr7:128694699 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.90C>T (p.Ala30=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001409976] Chr7:129054681 [GRCh38]
Chr7:128694735 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2541C>G (p.Pro847=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002544490] Chr7:128970205 [GRCh38]
Chr7:128610259 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2261G>A (p.Arg754Gln) single nucleotide variant not provided [RCV004799797] Chr7:128974880 [GRCh38]
Chr7:128614934 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2599-78G>A single nucleotide variant not provided [RCV001569715] Chr7:128967470 [GRCh38]
Chr7:128607524 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2273+133A>G single nucleotide variant not provided [RCV001562141] Chr7:128974735 [GRCh38]
Chr7:128614789 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.121-30T>G single nucleotide variant not provided [RCV001574526] Chr7:129018187 [GRCh38]
Chr7:128658241 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2598+245A>G single nucleotide variant not provided [RCV001557033] Chr7:128969903 [GRCh38]
Chr7:128609957 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+26G>A single nucleotide variant not provided [RCV001559449] Chr7:128978957 [GRCh38]
Chr7:128619011 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.321+27A>G single nucleotide variant not provided [RCV001555847] Chr7:129017930 [GRCh38]
Chr7:128657984 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.470G>A (p.Arg157His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002471582] Chr7:129015061 [GRCh38]
Chr7:128655115 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3 copy number gain not provided [RCV001005994] Chr7:109251060..159119707 [GRCh37]
Chr7:7q31.1-36.3		 pathogenic
NM_012470.4(TNPO3):c.1921-205A>G single nucleotide variant not provided [RCV001587497] Chr7:128979328 [GRCh38]
Chr7:128619382 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2431-115T>C single nucleotide variant not provided [RCV001722840] Chr7:128970430 [GRCh38]
Chr7:128610484 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1012-271A>G single nucleotide variant not provided [RCV001565703] Chr7:128997806 [GRCh38]
Chr7:128637860 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2062-34G>A single nucleotide variant not provided [RCV001567980] Chr7:128975969 [GRCh38]
Chr7:128616023 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+322A>C single nucleotide variant not provided [RCV001583683] Chr7:129000107 [GRCh38]
Chr7:128640161 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1424C>T (p.Thr475Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001204704]|not provided [RCV004761974] Chr7:128990035 [GRCh38]
Chr7:128630089 [GRCh37]
Chr7:7q32.1		 likely pathogenic|uncertain significance
NM_012470.4(TNPO3):c.1933T>G (p.Leu645Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001231580] Chr7:128979111 [GRCh38]
Chr7:128619165 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2598G>A (p.Pro866=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001208732] Chr7:128970148 [GRCh38]
Chr7:128610202 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.359C>T (p.Pro120Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001217377] Chr7:129017019 [GRCh38]
Chr7:128657073 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2015G>T (p.Cys672Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001248160] Chr7:128979029 [GRCh38]
Chr7:128619083 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.552+6T>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001204089] Chr7:129014973 [GRCh38]
Chr7:128655027 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2674C>A (p.His892Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001038057] Chr7:128967317 [GRCh38]
Chr7:128607371 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.64C>G (p.Pro22Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001231854] Chr7:129054707 [GRCh38]
Chr7:128694761 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.803A>G (p.Gln268Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001062985]|not provided [RCV004822308] Chr7:129001128 [GRCh38]
Chr7:128641182 [GRCh37]
Chr7:7q32.1		 uncertain significance
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3		 pathogenic
NM_012470.4(TNPO3):c.2178+26C>T single nucleotide variant not provided [RCV001545983] Chr7:128975793 [GRCh38]
Chr7:128615847 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.308T>C (p.Val103Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001325444] Chr7:129017970 [GRCh38]
Chr7:128658024 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1920+1G>A single nucleotide variant not provided [RCV001268625] Chr7:128979970 [GRCh38]
Chr7:128620024 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_012470.4(TNPO3):c.42A>G (p.Ala14=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002095730] Chr7:129054729 [GRCh38]
Chr7:128694783 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1611C>A (p.His537Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001337118] Chr7:128986808 [GRCh38]
Chr7:128626862 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1369C>T (p.Pro457Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001327656] Chr7:128990090 [GRCh38]
Chr7:128630144 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2539C>G (p.Pro847Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001298309] Chr7:128970207 [GRCh38]
Chr7:128610261 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.104G>A (p.Gly35Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001301813] Chr7:129054667 [GRCh38]
Chr7:128694721 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1874T>C (p.Ile625Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001349045]|Inborn genetic diseases [RCV004036570] Chr7:128980017 [GRCh38]
Chr7:128620071 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2666C>G (p.Thr889Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001306251] Chr7:128967325 [GRCh38]
Chr7:128607379 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.553-147_553-146del deletion not provided [RCV001539114] Chr7:129005305..129005306 [GRCh38]
Chr7:128645359..128645360 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1245G>T (p.Gly415=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001414363] Chr7:128993828 [GRCh38]
Chr7:128633882 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1267-4C>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001413053] Chr7:128992094 [GRCh38]
Chr7:128632148 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1947A>G (p.Leu649=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001392611] Chr7:128979097 [GRCh38]
Chr7:128619151 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.756T>C (p.Ala252=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001422416] Chr7:129001175 [GRCh38]
Chr7:128641229 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+188G>A single nucleotide variant not provided [RCV001536225] Chr7:128978795 [GRCh38]
Chr7:128618849 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.550T>C (p.Leu184=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001414930]|not provided [RCV003433148] Chr7:129014981 [GRCh38]
Chr7:128655035 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.697-4_697-3delinsGA indel Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001326717]|not provided [RCV001760418] Chr7:129001237..129001238 [GRCh38]
Chr7:128641291..128641292 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1724A>G (p.Asp575Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001322214] Chr7:128984226 [GRCh38]
Chr7:128624280 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.827T>G (p.Leu276Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001323252] Chr7:129001104 [GRCh38]
Chr7:128641158 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1841G>A (p.Arg614His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001347324]|not provided [RCV003235556] Chr7:128982266 [GRCh38]
Chr7:128622320 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1498+3A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001322470] Chr7:128989958 [GRCh38]
Chr7:128630012 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2212C>G (p.Gln738Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001308242]|not provided [RCV001751589] Chr7:128974929 [GRCh38]
Chr7:128614983 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001295994]|Inborn genetic diseases [RCV003263930] Chr7:129001075 [GRCh38]
Chr7:128641129 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.1585G>C (p.Val529Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001351940] Chr7:128986834 [GRCh38]
Chr7:128626888 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.582T>A (p.Asp194Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001318634] Chr7:129005130 [GRCh38]
Chr7:128645184 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2598+10T>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001503399] Chr7:128970138 [GRCh38]
Chr7:128610192 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+75T>C single nucleotide variant not provided [RCV001536903] Chr7:128978908 [GRCh38]
Chr7:128618962 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1953G>A (p.Lys651=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001402320] Chr7:128979091 [GRCh38]
Chr7:128619145 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.708G>A (p.Lys236=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001440107] Chr7:129001223 [GRCh38]
Chr7:128641277 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+10T>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001435259] Chr7:128978973 [GRCh38]
Chr7:128619027 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.93T>A (p.Ser31=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001432489] Chr7:129054678 [GRCh38]
Chr7:128694732 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.395+29G>A single nucleotide variant not provided [RCV001536174] Chr7:129016954 [GRCh38]
Chr7:128657008 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1473C>T (p.Val491=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001485734] Chr7:128989986 [GRCh38]
Chr7:128630040 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1449A>G (p.Glu483=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001476455] Chr7:128990010 [GRCh38]
Chr7:128630064 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.321+31T>C single nucleotide variant not provided [RCV001590898] Chr7:129017926 [GRCh38]
Chr7:128657980 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.747A>C (p.Val249=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001472124] Chr7:129001184 [GRCh38]
Chr7:128641238 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.130T>C (p.Trp44Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005057463]|not provided [RCV001508596] Chr7:129018148 [GRCh38]
Chr7:128658202 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.888C>T (p.Cys296=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001453200] Chr7:129000552 [GRCh38]
Chr7:128640606 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1734C>T (p.Thr578=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001455534] Chr7:128984216 [GRCh38]
Chr7:128624270 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1827A>C (p.Thr609=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001498981] Chr7:128982280 [GRCh38]
Chr7:128622334 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1593A>T (p.Arg531=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001436421] Chr7:128986826 [GRCh38]
Chr7:128626880 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.640T>C (p.Leu214=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001425455] Chr7:129005072 [GRCh38]
Chr7:128645126 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1623C>G (p.Leu541=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001426022] Chr7:128986796 [GRCh38]
Chr7:128626850 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1887A>G (p.Gly629=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001400615] Chr7:128980004 [GRCh38]
Chr7:128620058 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1110G>A (p.Gln370=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001489378] Chr7:128997437 [GRCh38]
Chr7:128637491 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2598+17G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003107271] Chr7:128970131 [GRCh38]
Chr7:128610185 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.396-1G>C single nucleotide variant not provided [RCV003127026] Chr7:129015136 [GRCh38]
Chr7:128655190 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1372A>G (p.Thr458Ala) single nucleotide variant not provided [RCV002255040] Chr7:128990087 [GRCh38]
Chr7:128630141 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1543del (p.Leu515fs) deletion not provided [RCV003238046] Chr7:128986876 [GRCh38]
Chr7:128626930 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_012470.4(TNPO3):c.2314del (p.Val772fs) deletion not provided [RCV001764124] Chr7:128972542 [GRCh38]
Chr7:128612596 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1999C>T (p.Arg667Cys) single nucleotide variant not provided [RCV001764897] Chr7:128979045 [GRCh38]
Chr7:128619099 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2765_*2del (p.Phe922fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002540332]|not provided [RCV001773991] Chr7:128957253..128957262 [GRCh38]
Chr7:128597307..128597316 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2603T>C (p.Phe868Ser) single nucleotide variant Inborn genetic diseases [RCV003264092]|not provided [RCV001765950] Chr7:128967388 [GRCh38]
Chr7:128607442 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1474G>A (p.Val492Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001868659]|not provided [RCV001774688] Chr7:128989985 [GRCh38]
Chr7:128630039 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1042C>T (p.Arg348Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002539131]|not provided [RCV001767582] Chr7:128997505 [GRCh38]
Chr7:128637559 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001785073] Chr7:129018115 [GRCh38]
Chr7:128658169 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_012470.4(TNPO3):c.2679_2682dup (p.Leu895fs) microsatellite Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001785072] Chr7:128967308..128967309 [GRCh38]
Chr7:128607362..128607363 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_012470.4(TNPO3):c.497G>A (p.Arg166His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003772008]|not provided [RCV001758779] Chr7:129015034 [GRCh38]
Chr7:128655088 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2760del (p.Arg920fs) deletion not provided [RCV001815965] Chr7:128957267 [GRCh38]
Chr7:128597321 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_012470.4(TNPO3):c.796G>A (p.Ala266Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002045456] Chr7:129001135 [GRCh38]
Chr7:128641189 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.766A>G (p.Ile256Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001874893] Chr7:129001165 [GRCh38]
Chr7:128641219 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1159-3T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002045327] Chr7:128993917 [GRCh38]
Chr7:128633971 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.33-33(chr7:124103982-134693590) copy number loss not specified [RCV002053726] Chr7:124103982..134693590 [GRCh37]
Chr7:7q31.33-33		 pathogenic
NM_012470.4(TNPO3):c.1514A>G (p.Tyr505Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002004655] Chr7:128986905 [GRCh38]
Chr7:128626959 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2674C>T (p.His892Tyr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001913425] Chr7:128967317 [GRCh38]
Chr7:128607371 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.559T>G (p.Cys187Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001890820] Chr7:129005153 [GRCh38]
Chr7:128645207 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2609G>A (p.Arg870Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002025537] Chr7:128967382 [GRCh38]
Chr7:128607436 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1510G>T (p.Gly504Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001945238] Chr7:128986909 [GRCh38]
Chr7:128626963 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1153G>T (p.Asp385Tyr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001891944] Chr7:128997394 [GRCh38]
Chr7:128637448 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1936T>C (p.Ser646Pro) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001890445] Chr7:128979108 [GRCh38]
Chr7:128619162 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q22.3-32.1(chr7:106984287-128949489) copy number gain not specified [RCV002053715] Chr7:106984287..128949489 [GRCh37]
Chr7:7q22.3-32.1		 pathogenic
NM_012470.4(TNPO3):c.1276A>G (p.Thr426Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002003205] Chr7:128992081 [GRCh38]
Chr7:128632135 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.368del (p.Lys123fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001895302] Chr7:129017010 [GRCh38]
Chr7:128657064 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1579T>C (p.Cys527Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002020632] Chr7:128986840 [GRCh38]
Chr7:128626894 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.11C>A (p.Ala4Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001872083]|not provided [RCV003481146] Chr7:129054760 [GRCh38]
Chr7:128694814 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2534T>G (p.Leu845Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001873064] Chr7:128970212 [GRCh38]
Chr7:128610266 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.496C>T (p.Arg166Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001984713] Chr7:129015035 [GRCh38]
Chr7:128655089 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1567A>C (p.Ile523Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002021090] Chr7:128986852 [GRCh38]
Chr7:128626906 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2597C>T (p.Pro866Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001890316] Chr7:128970149 [GRCh38]
Chr7:128610203 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) copy number loss not specified [RCV002053723] Chr7:123967475..132729981 [GRCh37]
Chr7:7q31.33-33		 pathogenic
GRCh37/hg19 7q32.1-34(chr7:127295698-139524358) copy number loss not specified [RCV002053727] Chr7:127295698..139524358 [GRCh37]
Chr7:7q32.1-34		 pathogenic
NM_012470.4(TNPO3):c.525C>G (p.Phe175Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001993610] Chr7:129015006 [GRCh38]
Chr7:128655060 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.76G>A (p.Gly26Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001961834] Chr7:129054695 [GRCh38]
Chr7:128694749 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2222G>A (p.Gly741Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001938431]|Inborn genetic diseases [RCV002560390] Chr7:128974919 [GRCh38]
Chr7:128614973 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.713C>T (p.Ser238Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001903889] Chr7:129001218 [GRCh38]
Chr7:128641272 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2540C>G (p.Pro847Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002037021] Chr7:128970206 [GRCh38]
Chr7:128610260 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2276T>G (p.Phe759Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001888669] Chr7:128972580 [GRCh38]
Chr7:128612634 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.390G>A (p.Val130=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001920133] Chr7:129016988 [GRCh38]
Chr7:128657042 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1073A>G (p.Asp358Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002017294] Chr7:128997474 [GRCh38]
Chr7:128637528 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1840C>T (p.Arg614Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001921704] Chr7:128982267 [GRCh38]
Chr7:128622321 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2071G>A (p.Val691Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001919357]|Inborn genetic diseases [RCV002558441] Chr7:128975926 [GRCh38]
Chr7:128615980 [GRCh37]
Chr7:7q32.1		 uncertain significance
NC_000007.13:g.(?_128637433)_(128694824_?)del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001974627] Chr7:128637433..128694824 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1524A>G (p.Lys508=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001977704] Chr7:128986895 [GRCh38]
Chr7:128626949 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.2185T>G (p.Cys729Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001972321] Chr7:128974956 [GRCh38]
Chr7:128615010 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2324C>G (p.Pro775Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001917676] Chr7:128972532 [GRCh38]
Chr7:128612586 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2633G>T (p.Gly878Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002030723] Chr7:128967358 [GRCh38]
Chr7:128607412 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002018788]|not provided [RCV003334062] Chr7:128972523 [GRCh38]
Chr7:128612577 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2599-3_2599-2del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001923975] Chr7:128967394..128967395 [GRCh38]
Chr7:128607448..128607449 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1906A>G (p.Lys636Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002035753] Chr7:128979985 [GRCh38]
Chr7:128620039 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1723G>T (p.Asp575Tyr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002009631] Chr7:128984227 [GRCh38]
Chr7:128624281 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1637G>A (p.Arg546His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001937603] Chr7:128986782 [GRCh38]
Chr7:128626836 [GRCh37]
Chr7:7q32.1		 uncertain significance
NC_000007.13:g.(?_128470692)_(128694824_?)dup duplication Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001879723]|Myofibrillar myopathy 5 [RCV001902472] Chr7:128470692..128694824 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1609C>A (p.His537Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001883141] Chr7:128986810 [GRCh38]
Chr7:128626864 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1717C>T (p.Pro573Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001923726] Chr7:128984233 [GRCh38]
Chr7:128624287 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.963T>A (p.Leu321=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001998440] Chr7:129000477 [GRCh38]
Chr7:128640531 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1958G>A (p.Arg653Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001980645] Chr7:128979086 [GRCh38]
Chr7:128619140 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1339A>G (p.Ile447Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002019276] Chr7:128992018 [GRCh38]
Chr7:128632072 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1777A>G (p.Lys593Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001974583] Chr7:128984173 [GRCh38]
Chr7:128624227 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2677A>C (p.Lys893Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001934117] Chr7:128967314 [GRCh38]
Chr7:128607368 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.342T>A (p.Asp114Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001977736] Chr7:129017036 [GRCh38]
Chr7:128657090 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1359-11C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV001951489] Chr7:128990111 [GRCh38]
Chr7:128630165 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+9A>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002128549] Chr7:128978974 [GRCh38]
Chr7:128619028 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1267-18C>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002073640] Chr7:128992108 [GRCh38]
Chr7:128632162 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.549A>G (p.Leu183=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002110062] Chr7:129014982 [GRCh38]
Chr7:128655036 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.697-3dup duplication Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002125016] Chr7:129001236..129001237 [GRCh38]
Chr7:128641290..128641291 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.120+7G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002208169] Chr7:129054644 [GRCh38]
Chr7:128694698 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1575C>T (p.Asn525=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002076317] Chr7:128986844 [GRCh38]
Chr7:128626898 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1629G>A (p.Glu543=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002128327] Chr7:128986790 [GRCh38]
Chr7:128626844 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1266+19T>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002192717] Chr7:128993788 [GRCh38]
Chr7:128633842 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1267-13del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002147750] Chr7:128992103 [GRCh38]
Chr7:128632157 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+15A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002147180] Chr7:129000414 [GRCh38]
Chr7:128640468 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2274-17C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002210040] Chr7:128972599 [GRCh38]
Chr7:128612653 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.21A>C (p.Thr7=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002146324] Chr7:129054750 [GRCh38]
Chr7:128694804 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.697-20T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002084587] Chr7:129001254 [GRCh38]
Chr7:128641308 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1359-12G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002132034] Chr7:128990112 [GRCh38]
Chr7:128630166 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.395+15T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002109323] Chr7:129016968 [GRCh38]
Chr7:128657022 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1146G>A (p.Leu382=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002094574] Chr7:128997401 [GRCh38]
Chr7:128637455 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.168T>C (p.Asp56=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002093761] Chr7:129018110 [GRCh38]
Chr7:128658164 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2062-20A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002115657] Chr7:128975955 [GRCh38]
Chr7:128616009 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.322-12T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002117104] Chr7:129017068 [GRCh38]
Chr7:128657122 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.297C>T (p.Asp99=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002213941] Chr7:129017981 [GRCh38]
Chr7:128658035 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.783T>C (p.Thr261=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002080863] Chr7:129001148 [GRCh38]
Chr7:128641202 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1591C>T (p.Arg531Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003091898] Chr7:128986828 [GRCh38]
Chr7:128626882 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1929A>G (p.Pro643=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002085856] Chr7:128979115 [GRCh38]
Chr7:128619169 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1407C>A (p.Leu469=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002147167] Chr7:128990052 [GRCh38]
Chr7:128630106 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.435G>A (p.Glu145=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002076072] Chr7:129015096 [GRCh38]
Chr7:128655150 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.697-9C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002093073] Chr7:129001243 [GRCh38]
Chr7:128641297 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.873-11G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002080052] Chr7:129000578 [GRCh38]
Chr7:128640632 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1053A>G (p.Glu351=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002114082] Chr7:128997494 [GRCh38]
Chr7:128637548 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2711+17G>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002215489] Chr7:128967263 [GRCh38]
Chr7:128607317 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2502C>G (p.Val834=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002076519] Chr7:128970244 [GRCh38]
Chr7:128610298 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2178+17G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002133408] Chr7:128975802 [GRCh38]
Chr7:128615856 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.396-19C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002076897] Chr7:129015154 [GRCh38]
Chr7:128655208 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1503T>C (p.Pro501=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002119860] Chr7:128986916 [GRCh38]
Chr7:128626970 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1152A>G (p.Pro384=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002137780] Chr7:128997395 [GRCh38]
Chr7:128637449 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1782+16G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002118305] Chr7:128984152 [GRCh38]
Chr7:128624206 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1783-18G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002123131] Chr7:128982342 [GRCh38]
Chr7:128622396 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2580C>T (p.Ile860=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002163976] Chr7:128970166 [GRCh38]
Chr7:128610220 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2544T>C (p.Tyr848=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002082632] Chr7:128970202 [GRCh38]
Chr7:128610256 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1359-13C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002162762] Chr7:128990113 [GRCh38]
Chr7:128630167 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1774T>C (p.Leu592=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002164428] Chr7:128984176 [GRCh38]
Chr7:128624230 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.395+19C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002103592] Chr7:129016964 [GRCh38]
Chr7:128657018 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.121-9C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002141095] Chr7:129018166 [GRCh38]
Chr7:128658220 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2206C>T (p.Leu736=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002098676] Chr7:128974935 [GRCh38]
Chr7:128614989 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2167G>A (p.Asp723Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002203682] Chr7:128975830 [GRCh38]
Chr7:128615884 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1293C>T (p.Asn431=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002162053] Chr7:128992064 [GRCh38]
Chr7:128632118 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2598+20G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002099069] Chr7:128970128 [GRCh38]
Chr7:128610182 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1842C>A (p.Arg614=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002204254] Chr7:128982265 [GRCh38]
Chr7:128622319 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2061+17C>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002201147] Chr7:128978966 [GRCh38]
Chr7:128619020 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2178+13T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002142861] Chr7:128975806 [GRCh38]
Chr7:128615860 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1859+16C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002141349] Chr7:128982232 [GRCh38]
Chr7:128622286 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1317G>A (p.Ala439=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002198430] Chr7:128992040 [GRCh38]
Chr7:128632094 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2196C>G (p.Thr732=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002139886] Chr7:128974945 [GRCh38]
Chr7:128614999 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1450T>C (p.Leu484=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002178796] Chr7:128990009 [GRCh38]
Chr7:128630063 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.660T>C (p.Ala220=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003121552] Chr7:129005052 [GRCh38]
Chr7:128645106 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.890G>T (p.Arg297Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003148521] Chr7:129000550 [GRCh38]
Chr7:128640604 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3		 uncertain significance
NM_012470.4(TNPO3):c.2177A>G (p.Gln726Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002267674] Chr7:128975820 [GRCh38]
Chr7:128615874 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1004A>G (p.Gln335Arg) single nucleotide variant not provided [RCV002267318] Chr7:129000436 [GRCh38]
Chr7:128640490 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.321+1G>T single nucleotide variant not specified [RCV002281811] Chr7:129017956 [GRCh38]
Chr7:128658010 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.783dup (p.Asn262Ter) duplication not provided [RCV002467018] Chr7:129001147..129001148 [GRCh38]
Chr7:128641201..128641202 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.838T>A (p.Tyr280Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002305073] Chr7:129001093 [GRCh38]
Chr7:128641147 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1359-19A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002306454] Chr7:128990119 [GRCh38]
Chr7:128630173 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1314A>C (p.Glu438Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002300049] Chr7:128992043 [GRCh38]
Chr7:128632097 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2404C>G (p.Leu802Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002295253] Chr7:128972452 [GRCh38]
Chr7:128612506 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1484A>C (p.Asn495Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002302141] Chr7:128989975 [GRCh38]
Chr7:128630029 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2067G>A (p.Val689=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002750654] Chr7:128975930 [GRCh38]
Chr7:128615984 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2285G>A (p.Arg762His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002751025] Chr7:128972571 [GRCh38]
Chr7:128612625 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.448T>C (p.Leu150=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002861872] Chr7:129015083 [GRCh38]
Chr7:128655137 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.369G>A (p.Lys123=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002995398] Chr7:129017009 [GRCh38]
Chr7:128657063 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.551T>G (p.Leu184Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002618673] Chr7:129014980 [GRCh38]
Chr7:128655034 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1266+13G>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002730724] Chr7:128993794 [GRCh38]
Chr7:128633848 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1783-12T>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002971391] Chr7:128982336 [GRCh38]
Chr7:128622390 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.155A>C (p.Gln52Pro) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002904748]|not provided [RCV003318733] Chr7:129018123 [GRCh38]
Chr7:128658177 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.76G>T (p.Gly26Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002908649] Chr7:129054695 [GRCh38]
Chr7:128694749 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1954C>T (p.His652Tyr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002726506] Chr7:128979090 [GRCh38]
Chr7:128619144 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2284C>T (p.Arg762Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002615982] Chr7:128972572 [GRCh38]
Chr7:128612626 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2489G>C (p.Gly830Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003032293] Chr7:128970257 [GRCh38]
Chr7:128610311 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.696+16A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002730580] Chr7:129005000 [GRCh38]
Chr7:128645054 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.307G>A (p.Val103Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002972018] Chr7:129017971 [GRCh38]
Chr7:128658025 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2190C>T (p.Ile730=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003014350] Chr7:128974951 [GRCh38]
Chr7:128615005 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2673A>G (p.Thr891=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003098975] Chr7:128967318 [GRCh38]
Chr7:128607372 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1059G>A (p.Leu353=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002750584] Chr7:128997488 [GRCh38]
Chr7:128637542 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1592G>A (p.Arg531Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002617858] Chr7:128986827 [GRCh38]
Chr7:128626881 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1977A>C (p.Val659=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002623003] Chr7:128979067 [GRCh38]
Chr7:128619121 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1674T>C (p.Ala558=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002889879] Chr7:128986745 [GRCh38]
Chr7:128626799 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.388G>T (p.Val130Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003055781] Chr7:129016990 [GRCh38]
Chr7:128657044 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1499-21_1499-20del microsatellite Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002736806] Chr7:128986940..128986941 [GRCh38]
Chr7:128626994..128626995 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.635G>T (p.Gly212Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002824708] Chr7:129005077 [GRCh38]
Chr7:128645131 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2121T>G (p.Leu707=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002866453] Chr7:128975876 [GRCh38]
Chr7:128615930 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+4G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002867076] Chr7:129000425 [GRCh38]
Chr7:128640479 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1511G>C (p.Gly504Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003054231] Chr7:128986908 [GRCh38]
Chr7:128626962 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.161G>A (p.Arg54Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002952702] Chr7:129018117 [GRCh38]
Chr7:128658171 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.547C>T (p.Leu183=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003001811] Chr7:129014984 [GRCh38]
Chr7:128655038 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2430+9A>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003077451] Chr7:128972417 [GRCh38]
Chr7:128612471 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1798C>T (p.Pro600Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003019780] Chr7:128982309 [GRCh38]
Chr7:128622363 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1980G>A (p.Glu660=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002621643] Chr7:128979064 [GRCh38]
Chr7:128619118 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2383G>T (p.Val795Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002926685] Chr7:128972473 [GRCh38]
Chr7:128612527 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1783-11del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002695693] Chr7:128982335 [GRCh38]
Chr7:128622389 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1159-15G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002953194] Chr7:128993929 [GRCh38]
Chr7:128633983 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.30C>G (p.Leu10=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002820630] Chr7:129054741 [GRCh38]
Chr7:128694795 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2599-18C>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003038492] Chr7:128967410 [GRCh38]
Chr7:128607464 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.696+12C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002636513] Chr7:129005004 [GRCh38]
Chr7:128645058 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1499-13C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002639174] Chr7:128986933 [GRCh38]
Chr7:128626987 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.733G>T (p.Ala245Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002909562] Chr7:129001198 [GRCh38]
Chr7:128641252 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.321+4A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002870863] Chr7:129017953 [GRCh38]
Chr7:128658007 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003138285]|not specified [RCV002510276] Chr7:128986803 [GRCh38]
Chr7:128626857 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2011C>T (p.Arg671Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002926841]|Inborn genetic diseases [RCV004066211] Chr7:128979033 [GRCh38]
Chr7:128619087 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1797G>A (p.Glu599=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002592822] Chr7:128982310 [GRCh38]
Chr7:128622364 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1012-2A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003054983] Chr7:128997537 [GRCh38]
Chr7:128637591 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1665A>G (p.Pro555=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002711938] Chr7:128986754 [GRCh38]
Chr7:128626808 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1859+15_1859+16delinsAA indel Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002958181] Chr7:128982232..128982233 [GRCh38]
Chr7:128622286..128622287 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1562A>C (p.Lys521Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003043298] Chr7:128986857 [GRCh38]
Chr7:128626911 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2272A>G (p.Arg758Gly) single nucleotide variant Inborn genetic diseases [RCV002767916] Chr7:128974869 [GRCh38]
Chr7:128614923 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1746T>C (p.Ser582=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002876797] Chr7:128984204 [GRCh38]
Chr7:128624258 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1832T>G (p.Phe611Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003082949] Chr7:128982275 [GRCh38]
Chr7:128622329 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1892C>T (p.Thr631Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003083559] Chr7:128979999 [GRCh38]
Chr7:128620053 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1267-14C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002666717]|not specified [RCV004782951] Chr7:128992104 [GRCh38]
Chr7:128632158 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2325T>C (p.Pro775=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003005905] Chr7:128972531 [GRCh38]
Chr7:128612585 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2765T>C (p.Phe922Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003042223] Chr7:128957262 [GRCh38]
Chr7:128597316 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2290C>G (p.Pro764Ala) single nucleotide variant Inborn genetic diseases [RCV002708472] Chr7:128972566 [GRCh38]
Chr7:128612620 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.120+13G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003040453] Chr7:129054638 [GRCh38]
Chr7:128694692 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2594G>C (p.Arg865Thr) single nucleotide variant Inborn genetic diseases [RCV002826954] Chr7:128970152 [GRCh38]
Chr7:128610206 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.552+4A>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002667876] Chr7:129014975 [GRCh38]
Chr7:128655029 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1938C>T (p.Ser646=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002790962] Chr7:128979106 [GRCh38]
Chr7:128619160 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.9A>G (p.Gly3=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002790421] Chr7:129054762 [GRCh38]
Chr7:128694816 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.873-9C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002891141] Chr7:129000576 [GRCh38]
Chr7:128640630 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1502C>G (p.Pro501Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002596440] Chr7:128986917 [GRCh38]
Chr7:128626971 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.673C>T (p.Leu225=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002805416] Chr7:129005039 [GRCh38]
Chr7:128645093 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+3A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002932076] Chr7:129000426 [GRCh38]
Chr7:128640480 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1958G>T (p.Arg653Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002928485]|not provided [RCV003108134] Chr7:128979086 [GRCh38]
Chr7:128619140 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.120+14A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002593777] Chr7:129054637 [GRCh38]
Chr7:128694691 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2598+9G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002958425] Chr7:128970139 [GRCh38]
Chr7:128610193 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1359-14C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003024571] Chr7:128990114 [GRCh38]
Chr7:128630168 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1100C>A (p.Ala367Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002626945] Chr7:128997447 [GRCh38]
Chr7:128637501 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2540C>A (p.Pro847His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002625283] Chr7:128970206 [GRCh38]
Chr7:128610260 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2541del (p.Tyr848fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003042034] Chr7:128970205 [GRCh38]
Chr7:128610259 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1499-3T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002631666] Chr7:128986923 [GRCh38]
Chr7:128626977 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.600G>A (p.Lys200=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002720987] Chr7:129005112 [GRCh38]
Chr7:128645166 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2453G>A (p.Arg818Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003062142] Chr7:128970293 [GRCh38]
Chr7:128610347 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1920+16T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002942009] Chr7:128979955 [GRCh38]
Chr7:128620009 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2711+11C>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002600373] Chr7:128967269 [GRCh38]
Chr7:128607323 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.481A>G (p.Ile161Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141077] Chr7:129015050 [GRCh38]
Chr7:128655104 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003091491] Chr7:129001100 [GRCh38]
Chr7:128641154 [GRCh37]
Chr7:7q32.1		 likely benign|conflicting interpretations of pathogenicity
NM_012470.4(TNPO3):c.1416C>G (p.Thr472=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002599709] Chr7:128990043 [GRCh38]
Chr7:128630097 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.185T>G (p.Phe62Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002810688] Chr7:129018093 [GRCh38]
Chr7:128658147 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2271C>G (p.Thr757=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002746763] Chr7:128974870 [GRCh38]
Chr7:128614924 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.737C>T (p.Ser246Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002962047] Chr7:129001194 [GRCh38]
Chr7:128641248 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1691-13_1691-10del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002834052] Chr7:128984269..128984272 [GRCh38]
Chr7:128624323..128624326 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2514G>A (p.Leu838=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002899448] Chr7:128970232 [GRCh38]
Chr7:128610286 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1012-4A>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003028376] Chr7:128997539 [GRCh38]
Chr7:128637593 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2228A>G (p.Gln743Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002937550] Chr7:128974913 [GRCh38]
Chr7:128614967 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2517C>T (p.His839=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002632046] Chr7:128970229 [GRCh38]
Chr7:128610283 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1165G>A (p.Val389Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002746584]|Inborn genetic diseases [RCV003167703]|not specified [RCV003403904] Chr7:128993908 [GRCh38]
Chr7:128633962 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2274-15C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002601426] Chr7:128972597 [GRCh38]
Chr7:128612651 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.371G>T (p.Gly124Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002938325] Chr7:129017007 [GRCh38]
Chr7:128657061 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.697-16C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002877136] Chr7:129001250 [GRCh38]
Chr7:128641304 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.552+11T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003090825] Chr7:129014968 [GRCh38]
Chr7:128655022 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1901G>A (p.Cys634Tyr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003047869] Chr7:128979990 [GRCh38]
Chr7:128620044 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.934T>C (p.Cys312Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003027089] Chr7:129000506 [GRCh38]
Chr7:128640560 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2382T>C (p.Ser794=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003030998] Chr7:128972474 [GRCh38]
Chr7:128612528 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.82G>A (p.Glu28Lys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002654123] Chr7:129054689 [GRCh38]
Chr7:128694743 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2082A>G (p.Val694=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002633349]|TNPO3-related disorder [RCV003926741] Chr7:128975915 [GRCh38]
Chr7:128615969 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002606537] Chr7:128970305 [GRCh38]
Chr7:128610359 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1157A>G (p.His386Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002721616] Chr7:128997390 [GRCh38]
Chr7:128637444 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.948A>G (p.Gln316=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002586001] Chr7:129000492 [GRCh38]
Chr7:128640546 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.893T>C (p.Ile298Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003092573] Chr7:129000547 [GRCh38]
Chr7:128640601 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2547C>T (p.Thr849=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002605003] Chr7:128970199 [GRCh38]
Chr7:128610253 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1628_1629insT (p.Glu543fs) insertion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003051798] Chr7:128986790..128986791 [GRCh38]
Chr7:128626844..128626845 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.322-13CT[2] microsatellite Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002589567] Chr7:129017064..129017065 [GRCh38]
Chr7:128657118..128657119 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2413A>G (p.Thr805Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV002654960]|Inborn genetic diseases [RCV004676168] Chr7:128972443 [GRCh38]
Chr7:128612497 [GRCh37]
Chr7:7q32.1		 likely benign|uncertain significance
NM_012470.4(TNPO3):c.1574A>G (p.Asn525Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003092338] Chr7:128986845 [GRCh38]
Chr7:128626899 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1865C>T (p.Thr622Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003069119] Chr7:128980026 [GRCh38]
Chr7:128620080 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.688G>T (p.Glu230Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005100922]|not provided [RCV003154408] Chr7:129005024 [GRCh38]
Chr7:128645078 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2193del (p.Thr732fs) deletion not provided [RCV004778122] Chr7:128974948 [GRCh38]
Chr7:128615002 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.528C>G (p.Tyr176Ter) single nucleotide variant not provided [RCV003225284] Chr7:129015003 [GRCh38]
Chr7:128655057 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1423dup (p.Thr475fs) duplication Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003132920] Chr7:128990035..128990036 [GRCh38]
Chr7:128630089..128630090 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_012470.4(TNPO3):c.1632T>G (p.Ile544Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141061] Chr7:128986787 [GRCh38]
Chr7:128626841 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2080G>A (p.Val694Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141062] Chr7:128975917 [GRCh38]
Chr7:128615971 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.7G>A (p.Gly3Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141063] Chr7:129054764 [GRCh38]
Chr7:128694818 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.668_672del (p.Lys223fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141064] Chr7:129005040..129005044 [GRCh38]
Chr7:128645094..128645098 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.643G>A (p.Asp215Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141065] Chr7:129005069 [GRCh38]
Chr7:128645123 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.788T>G (p.Leu263Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141066]|Inborn genetic diseases [RCV004246080] Chr7:129001143 [GRCh38]
Chr7:128641197 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.533G>A (p.Ser178Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141067] Chr7:129014998 [GRCh38]
Chr7:128655052 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141068] Chr7:128979075 [GRCh38]
Chr7:128619129 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.201G>C (p.Met67Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141069] Chr7:129018077 [GRCh38]
Chr7:128658131 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141070]|not provided [RCV003481453] Chr7:129001170 [GRCh38]
Chr7:128641224 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141071] Chr7:128975852 [GRCh38]
Chr7:128615906 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141072] Chr7:128997442 [GRCh38]
Chr7:128637496 [GRCh37]
Chr7:7q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141073] Chr7:128986894 [GRCh38]
Chr7:128626948 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141074] Chr7:128984228 [GRCh38]
Chr7:128624282 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141075] Chr7:129005093 [GRCh38]
Chr7:128645147 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141076] Chr7:128970209 [GRCh38]
Chr7:128610263 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1249A>G (p.Met417Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003141078]|Inborn genetic diseases [RCV003377932] Chr7:128993824 [GRCh38]
Chr7:128633878 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2674C>G (p.His892Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005108481] Chr7:128967317 [GRCh38]
Chr7:128607371 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1043G>A (p.Arg348Gln) single nucleotide variant Scapular winging [RCV003140305] Chr7:128997504 [GRCh38]
Chr7:128637558 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2430+1G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003337964] Chr7:128972425 [GRCh38]
Chr7:128612479 [GRCh37]
Chr7:7q32.1		 likely pathogenic
NM_012470.4(TNPO3):c.2142A>T (p.Glu714Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003337927] Chr7:128975855 [GRCh38]
Chr7:128615909 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2706C>G (p.Val902=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003875058] Chr7:128967285 [GRCh38]
Chr7:128607339 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2751C>A (p.Asp917Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003874512] Chr7:128957276 [GRCh38]
Chr7:128597330 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.33-32.2(chr7:127076892-129405807)x1 copy number loss not provided [RCV003482986] Chr7:127076892..129405807 [GRCh37]
Chr7:7q31.33-32.2		 pathogenic
NM_012470.4(TNPO3):c.-22TACCGCCAC[1] microsatellite TNPO3-related disorder [RCV003408447] Chr7:129054775..129054783 [GRCh38]
Chr7:128694829..128694837 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1433G>A (p.Arg478Gln) single nucleotide variant not provided [RCV003434131] Chr7:128990026 [GRCh38]
Chr7:128630080 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2583G>A (p.Met861Ile) single nucleotide variant TNPO3-related disorder [RCV003414396] Chr7:128970163 [GRCh38]
Chr7:128610217 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2012G>A (p.Arg671His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003389100] Chr7:128979032 [GRCh38]
Chr7:128619086 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2516A>C (p.His839Pro) single nucleotide variant not specified [RCV003489746] Chr7:128970230 [GRCh38]
Chr7:128610284 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.472del (p.Ser158fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003493196] Chr7:129015059 [GRCh38]
Chr7:128655113 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1735G>A (p.Glu579Lys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003493197] Chr7:128984215 [GRCh38]
Chr7:128624269 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.522C>A (p.Ala174=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003833696] Chr7:129015009 [GRCh38]
Chr7:128655063 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2599-15del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584071] Chr7:128967407 [GRCh38]
Chr7:128607461 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.1358+12A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584103] Chr7:128991987 [GRCh38]
Chr7:128632041 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1833C>G (p.Phe611Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584260] Chr7:128982274 [GRCh38]
Chr7:128622328 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.697-5C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584401] Chr7:129001239 [GRCh38]
Chr7:128641293 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1263T>C (p.Ala421=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003810839] Chr7:128993810 [GRCh38]
Chr7:128633864 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.177A>G (p.Ser59=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003834071] Chr7:129018101 [GRCh38]
Chr7:128658155 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1644C>T (p.Leu548=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003856781] Chr7:128986775 [GRCh38]
Chr7:128626829 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1200C>T (p.Arg400=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585626] Chr7:128993873 [GRCh38]
Chr7:128633927 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2280T>G (p.Ile760Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585458] Chr7:128972576 [GRCh38]
Chr7:128612630 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1921-7G>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585459] Chr7:128979130 [GRCh38]
Chr7:128619184 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1298C>T (p.Pro433Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584130] Chr7:128992059 [GRCh38]
Chr7:128632113 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.523_524delinsGC (p.Phe175Ala) indel Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584136] Chr7:129015007..129015008 [GRCh38]
Chr7:128655061..128655062 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1265A>G (p.Gln422Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584229] Chr7:128993808 [GRCh38]
Chr7:128633862 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1159-7A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584379] Chr7:128993921 [GRCh38]
Chr7:128633975 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1358+16G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584384] Chr7:128991983 [GRCh38]
Chr7:128632037 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1495C>T (p.Leu499Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585545] Chr7:128989964 [GRCh38]
Chr7:128630018 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1047G>C (p.Leu349=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585571] Chr7:128997500 [GRCh38]
Chr7:128637554 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1112G>A (p.Arg371Lys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584075] Chr7:128997435 [GRCh38]
Chr7:128637489 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1805A>T (p.Asn602Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003856152] Chr7:128982302 [GRCh38]
Chr7:128622356 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1624C>T (p.Leu542=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003852615] Chr7:128986795 [GRCh38]
Chr7:128626849 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1859+11A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584204] Chr7:128982237 [GRCh38]
Chr7:128622291 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2177A>T (p.Gln726Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585493] Chr7:128975820 [GRCh38]
Chr7:128615874 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2359G>A (p.Asp787Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584107] Chr7:128972497 [GRCh38]
Chr7:128612551 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.465T>C (p.His155=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584153] Chr7:129015066 [GRCh38]
Chr7:128655120 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2046G>T (p.Gln682His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585513] Chr7:128978998 [GRCh38]
Chr7:128619052 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1783-8C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585521] Chr7:128982332 [GRCh38]
Chr7:128622386 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2711+16G>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003855358] Chr7:128967264 [GRCh38]
Chr7:128607318 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1498+19C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003585605] Chr7:128989942 [GRCh38]
Chr7:128629996 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2430+16A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003584044] Chr7:128972410 [GRCh38]
Chr7:128612464 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.321+10G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003834458] Chr7:129017947 [GRCh38]
Chr7:128658001 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.872+11G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003842204] Chr7:129001048 [GRCh38]
Chr7:128641102 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2178+12A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003820239] Chr7:128975807 [GRCh38]
Chr7:128615861 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1860-20G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746426] Chr7:128980051 [GRCh38]
Chr7:128620105 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1859+19G>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746719] Chr7:128982229 [GRCh38]
Chr7:128622283 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1611C>G (p.His537Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746720] Chr7:128986808 [GRCh38]
Chr7:128626862 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2653G>T (p.Val885Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746730] Chr7:128967338 [GRCh38]
Chr7:128607392 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1782+11T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746956] Chr7:128984157 [GRCh38]
Chr7:128624211 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.60C>T (p.His20=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746974] Chr7:129054711 [GRCh38]
Chr7:128694765 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1306G>T (p.Val436Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747049] Chr7:128992051 [GRCh38]
Chr7:128632105 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1266+20_1266+30del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747061] Chr7:128993777..128993787 [GRCh38]
Chr7:128633831..128633841 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1718C>A (p.Pro573His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747108] Chr7:128984232 [GRCh38]
Chr7:128624286 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.31-33(chr7:120582003-137699953)x1 copy number loss not specified [RCV003986721] Chr7:120582003..137699953 [GRCh37]
Chr7:7q31.31-33		 pathogenic
NM_012470.4(TNPO3):c.2273+18G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746399] Chr7:128974850 [GRCh38]
Chr7:128614904 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.804A>C (p.Gln268His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746462] Chr7:129001127 [GRCh38]
Chr7:128641181 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1267-16A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746483] Chr7:128992106 [GRCh38]
Chr7:128632160 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.120+20A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747123] Chr7:129054631 [GRCh38]
Chr7:128694685 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2179-8del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747240] Chr7:128974970 [GRCh38]
Chr7:128615024 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.53T>C (p.Leu18Pro) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747286] Chr7:129054718 [GRCh38]
Chr7:128694772 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2178+9T>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747438] Chr7:128975810 [GRCh38]
Chr7:128615864 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2711+17del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747667] Chr7:128967263 [GRCh38]
Chr7:128607317 [GRCh37]
Chr7:7q32.1		 benign
NM_012470.4(TNPO3):c.2364C>T (p.His788=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746077] Chr7:128972492 [GRCh38]
Chr7:128612546 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1499-5C>T single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746263] Chr7:128986925 [GRCh38]
Chr7:128626979 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1088G>A (p.Gly363Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746366] Chr7:128997459 [GRCh38]
Chr7:128637513 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.592C>T (p.Leu198Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746495] Chr7:129005120 [GRCh38]
Chr7:128645174 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1330A>G (p.Met444Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746829] Chr7:128992027 [GRCh38]
Chr7:128632081 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1461G>A (p.Glu487=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746902] Chr7:128989998 [GRCh38]
Chr7:128630052 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.632T>G (p.Leu211Trp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747027] Chr7:129005080 [GRCh38]
Chr7:128645134 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2179-15A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747034] Chr7:128974977 [GRCh38]
Chr7:128615031 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.322-14T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747157] Chr7:129017070 [GRCh38]
Chr7:128657124 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.681C>G (p.Leu227=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747199] Chr7:129005031 [GRCh38]
Chr7:128645085 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1150C>T (p.Pro384Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747261]|TNPO3-related disorder [RCV003901261] Chr7:128997397 [GRCh38]
Chr7:128637451 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.812A>G (p.Gln271Arg) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746804] Chr7:129001119 [GRCh38]
Chr7:128641173 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1199G>A (p.Arg400His) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747489] Chr7:128993874 [GRCh38]
Chr7:128633928 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.776T>C (p.Val259Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747505] Chr7:129001155 [GRCh38]
Chr7:128641209 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1498+19C>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747533] Chr7:128989942 [GRCh38]
Chr7:128629996 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.697-10A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747541] Chr7:129001244 [GRCh38]
Chr7:128641298 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.655A>G (p.Met219Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747565] Chr7:129005057 [GRCh38]
Chr7:128645111 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1201A>G (p.Met401Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747591] Chr7:128993872 [GRCh38]
Chr7:128633926 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1069A>G (p.Asn357Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746948] Chr7:128997478 [GRCh38]
Chr7:128637532 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2503A>G (p.Ser835Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747608] Chr7:128970243 [GRCh38]
Chr7:128610297 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.927A>C (p.Lys309Asn) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003858438] Chr7:129000513 [GRCh38]
Chr7:128640567 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2754del (p.Phe918fs) deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747082] Chr7:128957273 [GRCh38]
Chr7:128597327 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.537A>G (p.Thr179=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747317] Chr7:129014994 [GRCh38]
Chr7:128655048 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.45G>T (p.Val15=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747373] Chr7:129054726 [GRCh38]
Chr7:128694780 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1256_1257insA (p.Cys419Ter) insertion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747422] Chr7:128993816..128993817 [GRCh38]
Chr7:128633870..128633871 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.839A>G (p.Tyr280Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003747463] Chr7:129001092 [GRCh38]
Chr7:128641146 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2153G>A (p.Arg718Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003746087] Chr7:128975844 [GRCh38]
Chr7:128615898 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.676G>A (p.Ala226Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003857917] Chr7:129005036 [GRCh38]
Chr7:128645090 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.87C>T (p.Arg29=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003866025] Chr7:129054684 [GRCh38]
Chr7:128694738 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2202G>A (p.Gln734=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003840858] Chr7:128974939 [GRCh38]
Chr7:128614993 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.541G>A (p.Val181Ile) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV003863401] Chr7:129014990 [GRCh38]
Chr7:128655044 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2179-8T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005101700]|TNPO3-related disorder [RCV003921742] Chr7:128974970 [GRCh38]
Chr7:128615024 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.889C>T (p.Arg297Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005065135]|Inborn genetic diseases [RCV004475438] Chr7:129000551 [GRCh38]
Chr7:128640605 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.205A>G (p.Met69Val) single nucleotide variant Inborn genetic diseases [RCV004475435] Chr7:129018073 [GRCh38]
Chr7:128658127 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2383G>A (p.Val795Ile) single nucleotide variant Inborn genetic diseases [RCV004475436] Chr7:128972473 [GRCh38]
Chr7:128612527 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2756C>T (p.Thr919Ile) single nucleotide variant Inborn genetic diseases [RCV004475437] Chr7:128957271 [GRCh38]
Chr7:128597325 [GRCh37]
Chr7:7q32.1		 uncertain significance
NC_000007.13:g.(?_128470692)_(128694824_?)del deletion Myofibrillar myopathy 5 [RCV004583555] Chr7:128470692..128694824 [GRCh37]
Chr7:7q32.1		 pathogenic
NM_012470.4(TNPO3):c.1987T>C (p.Cys663Arg) single nucleotide variant Inborn genetic diseases [RCV004682261] Chr7:128979057 [GRCh38]
Chr7:128619111 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2574G>C (p.Trp858Cys) single nucleotide variant Inborn genetic diseases [RCV004682262] Chr7:128970172 [GRCh38]
Chr7:128610226 [GRCh37]
Chr7:7q32.1		 uncertain significance
NC_000007.13:g.(?_128388409)_(128694824_?)del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV004583504] Chr7:128388409..128694824 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2040G>C (p.Leu680=) single nucleotide variant not provided [RCV004811177] Chr7:128979004 [GRCh38]
Chr7:128619058 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2180C>T (p.Ala727Val) single nucleotide variant not provided [RCV004762325]   uncertain significance
NM_012470.4(TNPO3):c.1120C>T (p.His374Tyr) single nucleotide variant not provided [RCV004726186] Chr7:128997427 [GRCh38]
Chr7:128637481 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.247C>G (p.His83Asp) single nucleotide variant not provided [RCV004761743]   uncertain significance
NM_012470.4(TNPO3):c.1038del (p.Trp346fs) deletion not provided [RCV004769130] Chr7:128997509 [GRCh38]
Chr7:128637563 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1964A>G (p.Asp655Gly) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005033581] Chr7:128979080 [GRCh38]
Chr7:128619134 [GRCh37]
Chr7:7q32.1		 uncertain significance
GRCh37/hg19 7q31.32-36.1(chr7:122190535-149944340)x1 copy number loss not provided [RCV004819354] Chr7:122190535..149944340 [GRCh37]
Chr7:7q31.32-36.1		 pathogenic
NM_012470.4(TNPO3):c.370G>C (p.Gly124Arg) single nucleotide variant Inborn genetic diseases [RCV004967036] Chr7:129017008 [GRCh38]
Chr7:128657062 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2409T>G (p.Ile803Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005107469]|not provided [RCV004823604] Chr7:128972447 [GRCh38]
Chr7:128612501 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.311T>C (p.Ile104Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005147273] Chr7:129017967 [GRCh38]
Chr7:128658021 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.469C>T (p.Arg157Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005175330] Chr7:129015062 [GRCh38]
Chr7:128655116 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1358C>T (p.Pro453Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005147734] Chr7:128991999 [GRCh38]
Chr7:128632053 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.873-7T>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005175962] Chr7:129000574 [GRCh38]
Chr7:128640628 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2069A>G (p.Asn690Ser) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005145442] Chr7:128975928 [GRCh38]
Chr7:128615982 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1773A>G (p.Ala591=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005067262] Chr7:128984177 [GRCh38]
Chr7:128624231 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1316C>T (p.Ala439Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005085860] Chr7:128992041 [GRCh38]
Chr7:128632095 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2274-15C>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005087065] Chr7:128972597 [GRCh38]
Chr7:128612651 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.396-19C>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005173416] Chr7:129015154 [GRCh38]
Chr7:128655208 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1898C>T (p.Pro633Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005088996] Chr7:128979993 [GRCh38]
Chr7:128620047 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1266+13G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005086326] Chr7:128993794 [GRCh38]
Chr7:128633848 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1750del (p.Leu584fs) deletion not provided [RCV005063540] Chr7:128984200 [GRCh38]
Chr7:128624254 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.618A>G (p.Gly206=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005119146] Chr7:129005094 [GRCh38]
Chr7:128645148 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1763A>T (p.Gln588Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005139655] Chr7:128984187 [GRCh38]
Chr7:128624241 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2081T>C (p.Val694Ala) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005080670] Chr7:128975916 [GRCh38]
Chr7:128615970 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.784A>G (p.Asn262Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005165218] Chr7:129001147 [GRCh38]
Chr7:128641201 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1989C>T (p.Cys663=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005165571] Chr7:128979055 [GRCh38]
Chr7:128619109 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1005A>G (p.Gln335=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005200433] Chr7:129000435 [GRCh38]
Chr7:128640489 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.655A>C (p.Met219Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005153526] Chr7:129005057 [GRCh38]
Chr7:128645111 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.51G>C (p.Ala17=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005186394] Chr7:129054720 [GRCh38]
Chr7:128694774 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.96T>A (p.Phe32Leu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005126636] Chr7:129054675 [GRCh38]
Chr7:128694729 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1159-11del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005132398] Chr7:128993925 [GRCh38]
Chr7:128633979 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1103A>G (p.Tyr368Cys) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005122541] Chr7:128997444 [GRCh38]
Chr7:128637498 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2179-8T>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005074085] Chr7:128974970 [GRCh38]
Chr7:128615024 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.873-17del deletion Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005192518] Chr7:129000584 [GRCh38]
Chr7:128640638 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1783-7T>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005143428] Chr7:128982331 [GRCh38]
Chr7:128622385 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2062-4A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005143757] Chr7:128975939 [GRCh38]
Chr7:128615993 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.617G>A (p.Gly206Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005168203] Chr7:129005095 [GRCh38]
Chr7:128645149 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2547C>G (p.Thr849=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005130752] Chr7:128970199 [GRCh38]
Chr7:128610253 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1011+4G>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005082627] Chr7:129000425 [GRCh38]
Chr7:128640479 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.420G>C (p.Leu140Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005144645] Chr7:129015111 [GRCh38]
Chr7:128655165 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1071C>T (p.Asn357=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005139345] Chr7:128997476 [GRCh38]
Chr7:128637530 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2160A>T (p.Gly720=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005183477] Chr7:128975837 [GRCh38]
Chr7:128615891 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1860-18G>C single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005132123] Chr7:128980049 [GRCh38]
Chr7:128620103 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.712T>C (p.Ser238Pro) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005135458] Chr7:129001219 [GRCh38]
Chr7:128641273 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1560C>T (p.Ala520=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005123287] Chr7:128986859 [GRCh38]
Chr7:128626913 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1951A>G (p.Lys651Glu) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005180871] Chr7:128979093 [GRCh38]
Chr7:128619147 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1859+3A>G single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005208001] Chr7:128982245 [GRCh38]
Chr7:128622299 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2740G>A (p.Ala914Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005121083] Chr7:128957287 [GRCh38]
Chr7:128597341 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2028A>T (p.Gly676=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005130886] Chr7:128979016 [GRCh38]
Chr7:128619070 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1918G>C (p.Glu640Gln) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005194437] Chr7:128979973 [GRCh38]
Chr7:128620027 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1859G>T (p.Arg620Met) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005124943] Chr7:128982248 [GRCh38]
Chr7:128622302 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.2581A>G (p.Met861Val) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005206658] Chr7:128970165 [GRCh38]
Chr7:128610219 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.585G>A (p.Glu195=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005181008] Chr7:129005127 [GRCh38]
Chr7:128645181 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.1396G>T (p.Val466Phe) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005148713] Chr7:128990063 [GRCh38]
Chr7:128630117 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1292A>C (p.Asn431Thr) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005131155] Chr7:128992065 [GRCh38]
Chr7:128632119 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1359-13C>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005115095] Chr7:128990113 [GRCh38]
Chr7:128630167 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1092C>T (p.Ile364=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005149023] Chr7:128997455 [GRCh38]
Chr7:128637509 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2077C>G (p.His693Asp) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005152257] Chr7:128975920 [GRCh38]
Chr7:128615974 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.1062C>G (p.Tyr354Ter) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005205091] Chr7:128997485 [GRCh38]
Chr7:128637539 [GRCh37]
Chr7:7q32.1		 uncertain significance
NM_012470.4(TNPO3):c.42A>C (p.Ala14=) single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005071133] Chr7:129054729 [GRCh38]
Chr7:128694783 [GRCh37]
Chr7:7q32.1		 likely benign
NM_012470.4(TNPO3):c.2062-17G>A single nucleotide variant Autosomal dominant limb-girdle muscular dystrophy type 1F [RCV005197145] Chr7:128975952 [GRCh38]
Chr7:128616006 [GRCh37]
Chr7:7q32.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1125
Count of miRNA genes:383
Interacting mature miRNAs:413
Transcripts:ENST00000265388, ENST00000393245, ENST00000471166, ENST00000471234, ENST00000482320
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597102487GWAS1198561_Hplatelet crit QTL GWAS1198561 (human)4e-13platelet quantity (VT:0003179)plateletcrit (CMO:0001349)7129023121129023122Human
597020438GWAS1116512_Hsystemic lupus erythematosus QTL GWAS1116512 (human)6e-31systemic lupus erythematosus7128956751128956752Human
406909509GWAS558485_Hsystemic lupus erythematosus QTL GWAS558485 (human)6e-13systemic lupus erythematosus7128977412128977413Human
597280095GWAS1376169_Hrheumatoid arthritis QTL GWAS1376169 (human)3e-18rheumatoid arthritis7128977412128977413Human
597066448GWAS1162522_HSjogren syndrome QTL GWAS1162522 (human)2e-16Sjogren syndrome7129041008129041009Human
597117721GWAS1213795_Hsystemic lupus erythematosus QTL GWAS1213795 (human)4e-71systemic lupus erythematosus7128976528128976529Human
597065880GWAS1161954_Hprimary biliary cirrhosis QTL GWAS1161954 (human)7e-22primary biliary cirrhosis7129043485129043486Human
597414731GWAS1510805_Hadolescent idiopathic scoliosis QTL GWAS1510805 (human)1e-24adolescent idiopathic scoliosis7129055592129055593Human
597303115GWAS1399189_Hprimary biliary cirrhosis QTL GWAS1399189 (human)9e-41primary biliary cirrhosis7128977412128977413Human
597613519GWAS1670379_Hautoimmune disorder of musculoskeletal system QTL GWAS1670379 (human)7e-19autoimmune disorder of musculoskeletal system7129047886129047887Human
597067328GWAS1163402_Hsystemic scleroderma QTL GWAS1163402 (human)5e-10systemic scleroderma7128977412128977413Human
597476869GWAS1572943_Hsystemic lupus erythematosus QTL GWAS1572943 (human)1e-17systemic lupus erythematosus7129055928129055929Human
407020830GWAS669806_Hbiliary liver cirrhosis QTL GWAS669806 (human)9e-17biliary liver cirrhosis7128977412128977413Human
597412103GWAS1508177_Hlimited scleroderma QTL GWAS1508177 (human)0.0000009limited scleroderma7129055929129055930Human
597095627GWAS1191701_Hsystemic lupus erythematosus QTL GWAS1191701 (human)2e-32systemic lupus erythematosus7129013997129013998Human
597077640GWAS1173714_Hrheumatoid arthritis, systemic lupus erythematosus QTL GWAS1173714 (human)1e-23rheumatoid arthritis, systemic lupus erythematosus7128977412128977413Human
597111560GWAS1207634_Hplatelet count QTL GWAS1207634 (human)1e-11platelet quantity (VT:0003179)platelet count (CMO:0000029)7128957533128957534Human
597067381GWAS1163455_Hsystemic scleroderma QTL GWAS1163455 (human)7e-10systemic scleroderma7128984019128984020Human
597058608GWAS1154682_Hage at menopause QTL GWAS1154682 (human)1e-08age at menopause7129052656129052657Human
597356925GWAS1452999_Hsystemic scleroderma, systemic lupus erythematosus QTL GWAS1452999 (human)1e-29systemic scleroderma, systemic lupus erythematosus7129055929129055930Human
597065914GWAS1161988_Hprimary biliary cirrhosis QTL GWAS1161988 (human)3e-19primary biliary cirrhosis7129043485129043486Human
406910509GWAS559485_Hsystemic lupus erythematosus QTL GWAS559485 (human)6e-09systemic lupus erythematosus7128977412128977413Human
597283444GWAS1379518_HC-reactive protein measurement QTL GWAS1379518 (human)2e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)7129000280129000281Human
597229940GWAS1326014_HHypermetropia, Myopia QTL GWAS1326014 (human)0.000007Hypermetropia, Myopia7129040409129040410Human
597454898GWAS1550972_Hsystemic lupus erythematosus QTL GWAS1550972 (human)4e-14systemic lupus erythematosus7129055929129055930Human
597112120GWAS1208194_Hsystemic lupus erythematosus QTL GWAS1208194 (human)0.000004systemic lupus erythematosus7129024628129024629Human
597286646GWAS1382720_Hhypothyroidism QTL GWAS1382720 (human)2e-10hypothyroidism7129025488129025489Human
597019621GWAS1115695_Hsystemic scleroderma QTL GWAS1115695 (human)1e-10systemic scleroderma7129044262129044263Human
597067431GWAS1163505_Hdiffuse scleroderma QTL GWAS1163505 (human)0.000004diffuse scleroderma7128984019128984020Human
597613615GWAS1670475_Hsystemic lupus erythematosus QTL GWAS1670475 (human)2e-16systemic lupus erythematosus7129047886129047887Human
597101860GWAS1197934_Hsystemic scleroderma QTL GWAS1197934 (human)3e-21systemic scleroderma7129011468129011469Human
596976620GWAS1096139_Hhypothyroidism QTL GWAS1096139 (human)2e-10hypothyroidism7129025488129025489Human
597299617GWAS1395691_Hprimary biliary cirrhosis QTL GWAS1395691 (human)0.0000002primary biliary cirrhosis7128990259128990260Human
597033451GWAS1129525_Hsystemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus QTL GWAS1129525 (human)1e-38systemic scleroderma, rheumatoid arthritis, myositis, systemic lupus erythematosus7129007888129007889Human

Markers in Region
D7S2544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377129,908,309 - 129,908,440UniSTSGRCh37
GRCh377129,908,106 - 129,908,267UniSTSGRCh37
Build 367129,695,342 - 129,695,503RGDNCBI36
Celera7124,704,076 - 124,704,207UniSTS
Celera7124,703,873 - 124,704,034RGD
Cytogenetic Map7q32.1-q32.2UniSTS
Cytogenetic Map7q32UniSTS
HuRef7124,270,505 - 124,270,668UniSTS
HuRef7124,270,710 - 124,270,841UniSTS
CRA_TCAGchr7v27129,293,691 - 129,293,822UniSTS
CRA_TCAGchr7v27129,293,488 - 129,293,649UniSTS
Marshfield Genetic Map7134.55UniSTS
Marshfield Genetic Map7134.55RGD
Genethon Genetic Map7136.4UniSTS
deCODE Assembly Map7130.97UniSTS
D7S2941  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,667,899 - 128,668,179UniSTSGRCh37
Build 367128,455,135 - 128,455,415RGDNCBI36
Celera7123,464,393 - 123,464,673RGD
Cytogenetic Map7q32.1UniSTS
HuRef7123,029,061 - 123,029,341UniSTS
CRA_TCAGchr7v27128,051,638 - 128,051,918UniSTS
D7S2931  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,595,174 - 128,595,322UniSTSGRCh37
Build 367128,382,410 - 128,382,558RGDNCBI36
Celera7123,391,670 - 123,391,818RGD
Cytogenetic Map7q32.1UniSTS
HuRef7122,956,360 - 122,956,508UniSTS
CRA_TCAGchr7v27127,978,917 - 127,979,065UniSTS
RH102793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,594,449 - 128,594,623UniSTSGRCh37
Build 367128,381,685 - 128,381,859RGDNCBI36
Celera7123,390,945 - 123,391,119RGD
Cytogenetic Map7q32.1UniSTS
HuRef7122,955,635 - 122,955,809UniSTS
CRA_TCAGchr7v27127,978,192 - 127,978,366UniSTS
GeneMap99-GB4 RH Map7588.38UniSTS
SHGC-53241  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,645,380 - 128,645,552UniSTSGRCh37
Build 367128,432,616 - 128,432,788RGDNCBI36
Celera7123,441,876 - 123,442,048RGD
Cytogenetic Map7q32.1UniSTS
HuRef7123,006,561 - 123,006,733UniSTS
CRA_TCAGchr7v27128,029,119 - 128,029,291UniSTS
TNG Radiation Hybrid Map757826.0UniSTS
STS-AA100521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,594,289 - 128,594,535UniSTSGRCh37
Build 367128,381,525 - 128,381,771RGDNCBI36
Celera7123,390,785 - 123,391,031RGD
Cytogenetic Map7q32.1UniSTS
HuRef7122,955,475 - 122,955,721UniSTS
CRA_TCAGchr7v27127,978,032 - 127,978,278UniSTS
GeneMap99-GB4 RH Map7588.38UniSTS
NCBI RH Map71192.6UniSTS
MARC_10379-10380:999106921:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh377128,614,951 - 128,615,930UniSTSGRCh37
Build 367128,402,187 - 128,403,166RGDNCBI36
Celera7123,411,449 - 123,412,428RGD
HuRef7122,976,145 - 122,977,124UniSTS
CRA_TCAGchr7v27127,998,694 - 127,999,673UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001191028 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382216 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382218 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382219 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382220 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382222 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001382223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_012470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_034053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167911 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167912 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167913 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167920 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167924 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167925 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_167927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420091 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357714 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054357715 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC018639 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC025594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF145029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022910 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225999 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312580 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW051835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009221 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC009923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ774864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB992781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH236950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471070 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA188633 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA720844 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA773316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000265388   ⟹   ENSP00000265388
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7128,954,185 - 129,055,111 (-)Ensembl
Ensembl Acc Id: ENST00000471166   ⟹   ENSP00000418267
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7128,957,223 - 129,054,883 (-)Ensembl
Ensembl Acc Id: ENST00000471234   ⟹   ENSP00000418646
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7128,955,088 - 129,055,144 (-)Ensembl
Ensembl Acc Id: ENST00000482320   ⟹   ENSP00000420089
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7128,955,088 - 129,055,093 (-)Ensembl
Ensembl Acc Id: ENST00000627585   ⟹   ENSP00000487231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl7128,954,180 - 129,055,173 (-)Ensembl
RefSeq Acc Id: NM_001191028   ⟹   NP_001177957
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
GRCh377128,594,234 - 128,695,227 (-)ENTREZGENE
HuRef7122,955,420 - 123,056,377 (-)ENTREZGENE
CHM1_17128,527,540 - 128,628,528 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
CRA_TCAGchr7v27127,977,977 - 128,078,965 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NM_001382216   ⟹   NP_001369145
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382217   ⟹   NP_001369146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382218   ⟹   NP_001369147
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382219   ⟹   NP_001369148
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382220   ⟹   NP_001369149
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382221   ⟹   NP_001369150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382222   ⟹   NP_001369151
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001382223   ⟹   NP_001369152
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NM_012470   ⟹   NP_036602
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
GRCh377128,594,234 - 128,695,227 (-)ENTREZGENE
Build 367128,382,184 - 128,482,434 (-)NCBI Archive
HuRef7122,955,420 - 123,056,377 (-)ENTREZGENE
CHM1_17128,527,540 - 128,628,528 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
CRA_TCAGchr7v27127,977,977 - 128,078,965 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_034053
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
GRCh377128,594,234 - 128,695,227 (-)ENTREZGENE
HuRef7122,955,420 - 123,056,377 (-)ENTREZGENE
CHM1_17128,527,540 - 128,628,528 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
CRA_TCAGchr7v27127,977,977 - 128,078,965 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NR_167911
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167912
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167913
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167914
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167915
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167916
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167917
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167918
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167919
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167920
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167921
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167922
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167923
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167924
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167925
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167926
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: NR_167927
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,055,111 (-)NCBI
T2T-CHM13v2.07130,267,070 - 130,367,981 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420091   ⟹   XP_047276047
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,056,193 (-)NCBI
RefSeq Acc Id: XM_047420092   ⟹   XP_047276048
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh387128,954,185 - 129,034,911 (-)NCBI
RefSeq Acc Id: XM_054357714   ⟹   XP_054213689
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07130,267,070 - 130,368,954 (-)NCBI
RefSeq Acc Id: XM_054357715   ⟹   XP_054213690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.07130,267,070 - 130,347,779 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001177957 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369145 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369146 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369147 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369148 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369149 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369150 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369151 (Get FASTA)   NCBI Sequence Viewer  
  NP_001369152 (Get FASTA)   NCBI Sequence Viewer  
  NP_036602 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276047 (Get FASTA)   NCBI Sequence Viewer  
  XP_047276048 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213689 (Get FASTA)   NCBI Sequence Viewer  
  XP_054213690 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAD38537 (Get FASTA)   NCBI Sequence Viewer  
  AAH09221 (Get FASTA)   NCBI Sequence Viewer  
  BAG35474 (Get FASTA)   NCBI Sequence Viewer  
  BAG50881 (Get FASTA)   NCBI Sequence Viewer  
  BAG51133 (Get FASTA)   NCBI Sequence Viewer  
  CAB42643 (Get FASTA)   NCBI Sequence Viewer  
  EAL24106 (Get FASTA)   NCBI Sequence Viewer  
  EAW83708 (Get FASTA)   NCBI Sequence Viewer  
  EAW83709 (Get FASTA)   NCBI Sequence Viewer  
  EAW83710 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000265388
  ENSP00000265388.5
  ENSP00000418267.1
  ENSP00000418646
  ENSP00000418646.1
  ENSP00000420089
  ENSP00000420089.1
  ENSP00000487231
  ENSP00000487231.1
GenBank Protein Q9Y5L0 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001177957   ⟸   NM_001191028
- Peptide Label: isoform 2
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_036602   ⟸   NM_012470
- Peptide Label: isoform 1
- UniProtKB: Q96GU9 (UniProtKB/Swiss-Prot),   Q96G71 (UniProtKB/Swiss-Prot),   Q6NUM1 (UniProtKB/Swiss-Prot),   C9IZM0 (UniProtKB/Swiss-Prot),   A4D1K9 (UniProtKB/Swiss-Prot),   Q9Y3R2 (UniProtKB/Swiss-Prot),   Q9Y5L0 (UniProtKB/Swiss-Prot),   B2R6H7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001369150   ⟸   NM_001382221
- Peptide Label: isoform 8
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369151   ⟸   NM_001382222
- Peptide Label: isoform 9
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369148   ⟸   NM_001382219
- Peptide Label: isoform 6
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369152   ⟸   NM_001382223
- Peptide Label: isoform 10
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369149   ⟸   NM_001382220
- Peptide Label: isoform 7
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369147   ⟸   NM_001382218
- Peptide Label: isoform 5
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369145   ⟸   NM_001382216
- Peptide Label: isoform 3
- UniProtKB: C9J7E5 (UniProtKB/TrEMBL),   B2R6H7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001369146   ⟸   NM_001382217
- Peptide Label: isoform 4
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000487231   ⟸   ENST00000627585
Ensembl Acc Id: ENSP00000420089   ⟸   ENST00000482320
Ensembl Acc Id: ENSP00000418267   ⟸   ENST00000471166
Ensembl Acc Id: ENSP00000418646   ⟸   ENST00000471234
Ensembl Acc Id: ENSP00000265388   ⟸   ENST00000265388
RefSeq Acc Id: XP_047276047   ⟸   XM_047420091
- Peptide Label: isoform X1
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL),   E9PFH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047276048   ⟸   XM_047420092
- Peptide Label: isoform X1
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL),   E9PFH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213689   ⟸   XM_054357714
- Peptide Label: isoform X1
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL),   E9PFH4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054213690   ⟸   XM_054357715
- Peptide Label: isoform X1
- UniProtKB: B2R6H7 (UniProtKB/TrEMBL),   E9PFH4 (UniProtKB/TrEMBL)
Protein Domains
Exportin-1/Importin-beta-like

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y5L0-F1-model_v2 AlphaFold Q9Y5L0 1-923 view protein structure

Promoters
RGD ID:6813316
Promoter ID:HG_ACW:74263
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TNPO3.HAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 367128,413,656 - 128,414,156 (-)MPROMDB
RGD ID:6805512
Promoter ID:HG_KWN:59651
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000359305,   ENST00000393245,   NM_012470,   UC003VOM.1,   UC010LLZ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 367128,482,051 - 128,483,302 (-)MPROMDB
RGD ID:7211893
Promoter ID:EPDNEW_H11693
Type:initiation region
Name:TNPO3_2
Description:transportin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11694  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,054,900 - 129,054,960EPDNEW
RGD ID:7211897
Promoter ID:EPDNEW_H11694
Type:initiation region
Name:TNPO3_1
Description:transportin 3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H11693  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh387129,055,111 - 129,055,171EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17103 AgrOrtholog
COSMIC TNPO3 COSMIC
Ensembl Genes ENSG00000064419 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000265388 ENTREZGENE
  ENST00000265388.10 UniProtKB/Swiss-Prot
  ENST00000471166.1 UniProtKB/TrEMBL
  ENST00000471234 ENTREZGENE
  ENST00000471234.5 UniProtKB/Swiss-Prot
  ENST00000482320 ENTREZGENE
  ENST00000482320.5 UniProtKB/TrEMBL
  ENST00000627585 ENTREZGENE
  ENST00000627585.2 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000064419 GTEx
HGNC ID HGNC:17103 ENTREZGENE
Human Proteome Map TNPO3 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Exportin-1/Importin-b-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Importin_beta-like_NTR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:23534 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 23534 ENTREZGENE
OMIM 610032 OMIM
PANTHER TRANSPORTIN 3 AND IMPORTIN 13 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRANSPORTIN-3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Xpo1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134888159 PharmGKB
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D1K9 ENTREZGENE
  B2R6H7 ENTREZGENE, UniProtKB/TrEMBL
  B3KMX1_HUMAN UniProtKB/TrEMBL
  C9IZM0 ENTREZGENE
  C9J7E5 ENTREZGENE, UniProtKB/TrEMBL
  E9PFH4 ENTREZGENE, UniProtKB/TrEMBL
  Q6NUM1 ENTREZGENE
  Q96G71 ENTREZGENE
  Q96GU9 ENTREZGENE
  Q9Y3R2 ENTREZGENE
  Q9Y5L0 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary A4D1K9 UniProtKB/Swiss-Prot
  C9IZM0 UniProtKB/Swiss-Prot
  Q6NUM1 UniProtKB/Swiss-Prot
  Q96G71 UniProtKB/Swiss-Prot
  Q96GU9 UniProtKB/Swiss-Prot
  Q9Y3R2 UniProtKB/Swiss-Prot