CNTN1 (contactin 1) - Rat Genome Database

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Gene: CNTN1 (contactin 1) Homo sapiens
Analyze
Symbol: CNTN1
Name: contactin 1
RGD ID: 732231
HGNC Page HGNC:2171
Description: Predicted to enable cell-cell adhesion mediator activity. Predicted to be involved in axon guidance; brain development; and cell-cell adhesion. Predicted to act upstream of or within several processes, including nervous system development; positive regulation of neuron projection development; and positive regulation of sodium ion transport. Located in extracellular exosome. Implicated in Compton-North congenital myopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CMYP12; contactin-1; F3; glycoprotein gP135; GP135; MYPCN; neural cell surface protein F3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381240,692,439 - 41,072,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1240,692,439 - 41,072,415 (+)EnsemblGRCh38hg38GRCh38
GRCh371241,086,241 - 41,466,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,372,625 - 39,750,361 (+)NCBINCBI36Build 36hg18NCBI36
Build 341239,372,624 - 39,750,361NCBI
Celera1239,889,695 - 40,267,406 (+)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1238,112,937 - 38,492,512 (+)NCBIHuRef
CHM1_11241,051,536 - 41,431,091 (+)NCBICHM1_1
T2T-CHM13v2.01240,652,132 - 41,031,590 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP)
2,4-diaminotoluene  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
2-hydroxypropanoic acid  (EXP)
2-palmitoylglycerol  (EXP)
3',5'-cyclic AMP  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one  (EXP)
5-aza-2'-deoxycytidine  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
ammonium chloride  (ISO)
antimycin A  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
asbestos  (EXP)
atrazine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (ISO)
Brodifacoum  (ISO)
carbon nanotube  (EXP)
CGP 52608  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
Cuprizon  (ISO)
deguelin  (EXP)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
diethyl maleate  (EXP)
diquat  (ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenpyroximate  (EXP)
folic acid  (ISO)
gentamycin  (ISO)
ivermectin  (EXP)
L-ascorbic acid  (EXP)
lead(0)  (EXP)
Mecamylamine  (EXP)
methapyrilene  (EXP)
methoxychlor  (ISO)
nickel atom  (EXP)
nicotine  (EXP)
O-methyleugenol  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
paraquat  (ISO)
pirinixic acid  (ISO)
poly(I:C)  (ISO)
progesterone  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (EXP,ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
tebufenpyrad  (EXP)
temozolomide  (EXP)
testosterone  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
tubocurarine  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression. Berglund EO, etal., Neuron 1999 Nov;24(3):739-50.
2. Transcriptional changes in adhesion-related genes are site-specific during noise-induced cochlear pathogenesis. Cai Q, etal., Neurobiol Dis. 2012 Feb;45(2):723-32. Epub 2011 Oct 25.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. Overlapping and differential expression of BIG-2, BIG-1, TAG-1, and F3: four members of an axon-associated cell adhesion molecule subgroup of the immunoglobulin superfamily. Yoshihara Y, etal., J Neurobiol 1995 Sep;28(1):51-69.
Additional References at PubMed
PMID:1838307   PMID:7595520   PMID:7628014   PMID:7959734   PMID:8164510   PMID:8889548   PMID:9049255   PMID:9081628   PMID:9335257   PMID:9584610   PMID:9651216   PMID:10103110  
PMID:11556889   PMID:11567041   PMID:12139915   PMID:12477932   PMID:12700241   PMID:14567914   PMID:14592966   PMID:14676309   PMID:14761957   PMID:15146195   PMID:15317864   PMID:15489334  
PMID:16078236   PMID:16335952   PMID:16344560   PMID:16368877   PMID:16865674   PMID:17500595   PMID:18464913   PMID:19026398   PMID:19086053   PMID:20379614   PMID:21482472   PMID:21805024  
PMID:21873635   PMID:21900206   PMID:21969550   PMID:22321011   PMID:22360968   PMID:22580838   PMID:22581910   PMID:22925353   PMID:23376485   PMID:23382691   PMID:23533145   PMID:23724143  
PMID:23934736   PMID:24842889   PMID:24986923   PMID:25808373   PMID:25916117   PMID:25952582   PMID:25960233   PMID:26186194   PMID:26721881   PMID:26722434   PMID:26795349   PMID:27864734  
PMID:28298427   PMID:28514442   PMID:28934754   PMID:29673312   PMID:29859926   PMID:30021884   PMID:30094605   PMID:32460013   PMID:32707033   PMID:32806791   PMID:33104020   PMID:33578925  
PMID:33961781   PMID:34285092   PMID:34600965   PMID:34675937   PMID:35171955   PMID:35931765   PMID:36062492   PMID:36215168   PMID:36543540   PMID:36734072   PMID:36893151   PMID:37437228  
PMID:37499664   PMID:37616343  


Genomics

Comparative Map Data
CNTN1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381240,692,439 - 41,072,415 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1240,692,439 - 41,072,415 (+)EnsemblGRCh38hg38GRCh38
GRCh371241,086,241 - 41,466,217 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361239,372,625 - 39,750,361 (+)NCBINCBI36Build 36hg18NCBI36
Build 341239,372,624 - 39,750,361NCBI
Celera1239,889,695 - 40,267,406 (+)NCBICelera
Cytogenetic Map12q12NCBI
HuRef1238,112,937 - 38,492,512 (+)NCBIHuRef
CHM1_11241,051,536 - 41,431,091 (+)NCBICHM1_1
T2T-CHM13v2.01240,652,132 - 41,031,590 (+)NCBIT2T-CHM13v2.0
Cntn1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391591,949,034 - 92,239,834 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1591,949,046 - 92,239,848 (+)EnsemblGRCm39 Ensembl
GRCm381592,051,152 - 92,341,967 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1592,051,165 - 92,341,967 (+)EnsemblGRCm38mm10GRCm38
MGSCv371591,881,596 - 92,172,398 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361591,956,372 - 92,168,291 (+)NCBIMGSCv36mm8
Celera1594,177,246 - 94,486,845 (+)NCBICelera
Cytogenetic Map15E3NCBI
cM Map1546.39NCBI
Cntn1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87125,142,638 - 125,440,397 (+)NCBIGRCr8
mRatBN7.27123,263,146 - 123,560,896 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7123,372,792 - 123,558,541 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7125,146,295 - 125,332,781 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07127,372,157 - 127,558,628 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07127,293,669 - 127,480,412 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07133,290,606 - 133,588,314 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7133,400,485 - 133,586,677 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07132,976,416 - 133,272,747 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47130,658,836 - 130,845,071 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17130,735,272 - 130,921,508 (+)NCBI
Celera7119,777,077 - 119,962,153 (+)NCBICelera
Cytogenetic Map7q35NCBI
Cntn1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955500245,896 - 540,600 (+)EnsemblChiLan1.0
ChiLan1.0NW_004955500154,704 - 540,546 (+)NCBIChiLan1.0ChiLan1.0
CNTN1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21053,073,079 - 53,457,589 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11253,069,840 - 53,454,351 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01247,630,295 - 48,014,766 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11248,492,558 - 48,877,396 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1248,492,564 - 48,670,126 (-)Ensemblpanpan1.1panPan2
CNTN1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12712,655,021 - 13,005,536 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2712,657,287 - 12,920,315 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2733,445,834 - 33,709,949 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02712,856,273 - 13,206,411 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2712,856,279 - 13,206,379 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12712,671,345 - 12,901,312 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02712,704,418 - 13,054,458 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02733,541,381 - 33,890,677 (+)NCBIUU_Cfam_GSD_1.0
Cntn1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494573,184,782 - 73,458,579 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493660723,150 - 292,013 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366078,430 - 291,964 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CNTN1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl572,168,511 - 72,495,633 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1572,168,496 - 72,495,454 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2575,140,748 - 75,389,289 (+)NCBISscrofa10.2Sscrofa10.2susScr3
CNTN1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11136,950,020 - 37,332,058 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1137,167,079 - 37,333,314 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037209,407,722 - 209,806,565 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cntn1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624917471,837 - 750,245 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624917292,404 - 752,017 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CNTN1
577 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001843.4(CNTN1):c.2284C>T (p.Pro762Ser) single nucleotide variant Compton-North congenital myopathy [RCV000546658] Chr12:41016781 [GRCh38]
Chr12:41410583 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1095G>T (p.Leu365Phe) single nucleotide variant Compton-North congenital myopathy [RCV000645984]|not specified [RCV000518584] Chr12:40936890 [GRCh38]
Chr12:41330692 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3031G>A (p.Gly1011Ser) single nucleotide variant Compton-North congenital myopathy [RCV000696589]|not provided [RCV000520234] Chr12:41070009 [GRCh38]
Chr12:41463811 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2795C>A (p.Ser932Ter) single nucleotide variant Compton-North congenital myopathy [RCV000526899] Chr12:41027941 [GRCh38]
Chr12:41421743 [GRCh37]
Chr12:12q12		 pathogenic|uncertain significance
NM_001843.4(CNTN1):c.1442T>C (p.Ile481Thr) single nucleotide variant Compton-North congenital myopathy [RCV001371586]|not provided [RCV000522566] Chr12:40943659 [GRCh38]
Chr12:41337461 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2498T>C (p.Leu833Ser) single nucleotide variant Compton-North congenital myopathy [RCV000528142] Chr12:41020415 [GRCh38]
Chr12:41414217 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1921A>T (p.Thr641Ser) single nucleotide variant Compton-North congenital myopathy [RCV000532139] Chr12:40981025 [GRCh38]
Chr12:41374827 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.871dup (p.Ser291fs) duplication Compton-North congenital myopathy [RCV000010147] Chr12:40933763..40933764 [GRCh38]
Chr12:41327565..41327566 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.1805-3C>T single nucleotide variant Compton-North congenital myopathy [RCV000543684] Chr12:40980906 [GRCh38]
Chr12:41374708 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.560G>A (p.Arg187Gln) single nucleotide variant not provided [RCV000519671] Chr12:40929859 [GRCh38]
Chr12:41323661 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1280C>G (p.Ala427Gly) single nucleotide variant Compton-North congenital myopathy [RCV000526090] Chr12:40939386 [GRCh38]
Chr12:41333188 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.2685G>T (p.Met895Ile) single nucleotide variant not provided [RCV000519946] Chr12:41025311 [GRCh38]
Chr12:41419113 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12(chr12:39651727-41240339)x3 copy number gain See cases [RCV000051957] Chr12:39651727..41240339 [GRCh38]
Chr12:40045529..41634141 [GRCh37]
Chr12:38331796..39920408 [NCBI36]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12-13.11(chr12:38590101-46551898)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052809]|See cases [RCV000052809] Chr12:38590101..46551898 [GRCh38]
Chr12:38983903..46945681 [GRCh37]
Chr12:37270170..45231948 [NCBI36]
Chr12:12q12-13.11		 pathogenic
NM_001843.3(CNTN1):c.353A>G (p.Asn118Ser) single nucleotide variant Malignant melanoma [RCV000069981] Chr12:40922381 [GRCh38]
Chr12:41316183 [GRCh37]
Chr12:39602450 [NCBI36]
Chr12:12q12		 not provided
NM_001843.3(CNTN1):c.1251G>A (p.Met417Ile) single nucleotide variant Malignant melanoma [RCV000069982] Chr12:40939357 [GRCh38]
Chr12:41333159 [GRCh37]
Chr12:39619426 [NCBI36]
Chr12:12q12		 not provided
NM_001843.3(CNTN1):c.1778C>T (p.Ser593Leu) single nucleotide variant Malignant melanoma [RCV000069983] Chr12:40959208 [GRCh38]
Chr12:41353010 [GRCh37]
Chr12:39639277 [NCBI36]
Chr12:12q12		 not provided
NM_001843.4(CNTN1):c.2297G>A (p.Arg766Gln) single nucleotide variant Compton-North congenital myopathy [RCV001302238] Chr12:41016794 [GRCh38]
Chr12:41410596 [GRCh37]
Chr12:39696863 [NCBI36]
Chr12:12q12		 uncertain significance|not provided
NM_001843.3(CNTN1):c.592A>G (p.Ile198Val) single nucleotide variant Malignant melanoma [RCV000062487] Chr12:40929891 [GRCh38]
Chr12:41323693 [GRCh37]
Chr12:39609960 [NCBI36]
Chr12:12q12		 not provided
NM_001843.3(CNTN1):c.-77+58692T>C single nucleotide variant Lung cancer [RCV000111030] Chr12:40751284 [GRCh38]
Chr12:41145086 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.3(CNTN1):c.-77+103754T>C single nucleotide variant Lung cancer [RCV000111031] Chr12:40796346 [GRCh38]
Chr12:41190148 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.3(CNTN1):c.-76-85996G>T single nucleotide variant Lung cancer [RCV000111032] Chr12:40822361 [GRCh38]
Chr12:41216163 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.3(CNTN1):c.-76-18082G>T single nucleotide variant Lung cancer [RCV000111033] Chr12:40890275 [GRCh38]
Chr12:41284077 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.3(CNTN1):c.1379+277G>A single nucleotide variant Lung cancer [RCV000111034] Chr12:40939762 [GRCh38]
Chr12:41333564 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.3(CNTN1):c.1683+1892C>A single nucleotide variant Lung cancer [RCV000111035] Chr12:40946062 [GRCh38]
Chr12:41339864 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.3(CNTN1):c.1964-556C>A single nucleotide variant Lung cancer [RCV000111036] Chr12:40992564 [GRCh38]
Chr12:41386366 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1014T>C (p.Asn338=) single nucleotide variant Compton-North congenital myopathy [RCV001514636]|not specified [RCV000116764] Chr12:40936809 [GRCh38]
Chr12:41330611 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1416C>T (p.Asn472=) single nucleotide variant Compton-North congenital myopathy [RCV001514082]|not specified [RCV000116765] Chr12:40943633 [GRCh38]
Chr12:41337435 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1893T>C (p.His631=) single nucleotide variant Compton-North congenital myopathy [RCV000555116]|not specified [RCV000116766] Chr12:40980997 [GRCh38]
Chr12:41374799 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001843.4(CNTN1):c.1956A>G (p.Ala652=) single nucleotide variant Compton-North congenital myopathy [RCV000547019]|not specified [RCV000116767] Chr12:40981060 [GRCh38]
Chr12:41374862 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2324G>A (p.Ser775Asn) single nucleotide variant Compton-North congenital myopathy [RCV000535101]|not specified [RCV000116768] Chr12:41016821 [GRCh38]
Chr12:41410623 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001843.4(CNTN1):c.2493T>C (p.His831=) single nucleotide variant Compton-North congenital myopathy [RCV000550005]|not specified [RCV000116769] Chr12:41020410 [GRCh38]
Chr12:41414212 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001843.4(CNTN1):c.2670A>T (p.Gly890=) single nucleotide variant Compton-North congenital myopathy [RCV000533886]|not specified [RCV000116770] Chr12:41025296 [GRCh38]
Chr12:41419098 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001843.4(CNTN1):c.401-9C>T single nucleotide variant Compton-North congenital myopathy [RCV000526602]|not specified [RCV000116771] Chr12:40924548 [GRCh38]
Chr12:41318350 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 12q12(chr12:40892503-41334848)x3 copy number gain See cases [RCV000134779] Chr12:40892503..41334848 [GRCh38]
Chr12:41286305..41728650 [GRCh37]
Chr12:39572572..40014917 [NCBI36]
Chr12:12q12		 uncertain significance
GRCh38/hg38 12q12-13.11(chr12:40713887-46551900)x1 copy number loss See cases [RCV000138626] Chr12:40713887..46551900 [GRCh38]
Chr12:41107689..46945683 [GRCh37]
Chr12:39393956..45231950 [NCBI36]
Chr12:12q12-13.11		 pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
NM_001843.4(CNTN1):c.271T>C (p.Tyr91His) single nucleotide variant not specified [RCV000193196] Chr12:40922299 [GRCh38]
Chr12:41316101 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.207C>T (p.Ala69=) single nucleotide variant Compton-North congenital myopathy [RCV000557016]|not provided [RCV001705078]|not specified [RCV000195141] Chr12:40918751 [GRCh38]
Chr12:41312553 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.2823+2TA[2] microsatellite not specified [RCV000193853] Chr12:41027971..41027972 [GRCh38]
Chr12:41421773..41421774 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2929C>T (p.Arg977Cys) single nucleotide variant Compton-North congenital myopathy [RCV000542690] Chr12:41029168 [GRCh38]
Chr12:41422970 [GRCh37]
Chr12:12q12		 benign
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
NM_001843.4(CNTN1):c.2325C>A (p.Ser775Arg) single nucleotide variant Compton-North congenital myopathy [RCV001963851] Chr12:41016822 [GRCh38]
Chr12:41410624 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1508A>C (p.Asp503Ala) single nucleotide variant Compton-North congenital myopathy [RCV000524608] Chr12:40943995 [GRCh38]
Chr12:41337797 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2114-20T>C single nucleotide variant Compton-North congenital myopathy [RCV002063958]|not specified [RCV000603578] Chr12:41014208 [GRCh38]
Chr12:41408010 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2711-17A>G single nucleotide variant Compton-North congenital myopathy [RCV002058066]|not specified [RCV000250886] Chr12:41027840 [GRCh38]
Chr12:41421642 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2980+19A>T single nucleotide variant Compton-North congenital myopathy [RCV002058067]|not specified [RCV000250932] Chr12:41029238 [GRCh38]
Chr12:41423040 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2598C>G (p.Ala866=) single nucleotide variant Compton-North congenital myopathy [RCV000645993]|not provided [RCV001705356]|not specified [RCV000253907] Chr12:41025224 [GRCh38]
Chr12:41419026 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.90T>C (p.His30=) single nucleotide variant Compton-North congenital myopathy [RCV001082871]|not provided [RCV000711286]|not specified [RCV000251554] Chr12:40910101 [GRCh38]
Chr12:41303903 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.905T>C (p.Leu302Pro) single nucleotide variant Compton-North congenital myopathy [RCV002058070]|not specified [RCV000246809] Chr12:40933798 [GRCh38]
Chr12:41327600 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1401T>C (p.Gly467=) single nucleotide variant Compton-North congenital myopathy [RCV001084073]|not provided [RCV000540672]|not specified [RCV000244615] Chr12:40943618 [GRCh38]
Chr12:41337420 [GRCh37]
Chr12:12q12		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001843.4(CNTN1):c.2785G>A (p.Val929Ile) single nucleotide variant Compton-North congenital myopathy [RCV000548504]|not provided [RCV001594903]|not specified [RCV000242619] Chr12:41027931 [GRCh38]
Chr12:41421733 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2824-6T>C single nucleotide variant Compton-North congenital myopathy [RCV001206838]|not specified [RCV000247811] Chr12:41029057 [GRCh38]
Chr12:41422859 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.2553A>G (p.Glu851=) single nucleotide variant Compton-North congenital myopathy [RCV002058065]|not specified [RCV000250357] Chr12:41025179 [GRCh38]
Chr12:41418981 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.401-14del deletion Compton-North congenital myopathy [RCV002058069]|not provided [RCV001705357]|not specified [RCV000247944] Chr12:40924537 [GRCh38]
Chr12:41318339 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.1805-14C>A single nucleotide variant Compton-North congenital myopathy [RCV002058064]|not specified [RCV000252930] Chr12:40980895 [GRCh38]
Chr12:41374697 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.400+13T>C single nucleotide variant Compton-North congenital myopathy [RCV002058068]|not specified [RCV000243172] Chr12:40922441 [GRCh38]
Chr12:41316243 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.804-8A>G single nucleotide variant Compton-North congenital myopathy [RCV000529679]|not provided [RCV001702391]|not specified [RCV000243278] Chr12:40933689 [GRCh38]
Chr12:41327491 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.496+181G>A single nucleotide variant not provided [RCV001566373] Chr12:40924833 [GRCh38]
Chr12:41318635 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2039G>A (p.Arg680His) single nucleotide variant Compton-North congenital myopathy [RCV001050276]|not provided [RCV000490028] Chr12:40993195 [GRCh38]
Chr12:41386997 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3037C>T (p.Leu1013Phe) single nucleotide variant Compton-North congenital myopathy [RCV000552758]|Inborn genetic diseases [RCV003352919] Chr12:41070015 [GRCh38]
Chr12:41463817 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.11:g.(?_41302215)_(41365335_?)dup duplication Compton-North congenital myopathy [RCV000537599] Chr12:40908413..40971533 [GRCh38]
Chr12:41302215..41365335 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1683+1G>A single nucleotide variant Compton-North congenital myopathy [RCV000539454] Chr12:40944171 [GRCh38]
Chr12:41337973 [GRCh37]
Chr12:12q12		 likely pathogenic|uncertain significance
NM_001843.4(CNTN1):c.1712G>A (p.Arg571Gln) single nucleotide variant Compton-North congenital myopathy [RCV000533621] Chr12:40959142 [GRCh38]
Chr12:41352944 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.54T>C (p.Cys18=) single nucleotide variant Compton-North congenital myopathy [RCV000541185] Chr12:40908486 [GRCh38]
Chr12:41302288 [GRCh37]
Chr12:12q12		 benign
GRCh37/hg19 12q12(chr12:39598809-41141181)x3 copy number gain See cases [RCV000446896] Chr12:39598809..41141181 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.147T>C (p.Asn49=) single nucleotide variant Compton-North congenital myopathy [RCV000555511]|not provided [RCV001703791] Chr12:40918691 [GRCh38]
Chr12:41312493 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1251G>T (p.Met417Ile) single nucleotide variant Compton-North congenital myopathy [RCV000547638]|not provided [RCV001698139] Chr12:40939357 [GRCh38]
Chr12:41333159 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.497-17G>T single nucleotide variant Compton-North congenital myopathy [RCV002059579]|not specified [RCV000418112] Chr12:40929779 [GRCh38]
Chr12:41323581 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.-12A>G single nucleotide variant not specified [RCV000438743] Chr12:40908421 [GRCh38]
Chr12:41302223 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1507+19G>T single nucleotide variant Compton-North congenital myopathy [RCV002059782]|not specified [RCV000428881] Chr12:40943743 [GRCh38]
Chr12:41337545 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.985+20T>A single nucleotide variant not specified [RCV000433898] Chr12:40933898 [GRCh38]
Chr12:41327700 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_001843.4(CNTN1):c.278T>C (p.Met93Thr) single nucleotide variant Compton-North congenital myopathy [RCV001044442]|not provided [RCV000481172] Chr12:40922306 [GRCh38]
Chr12:41316108 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.1842C>T (p.Asp614=) single nucleotide variant Compton-North congenital myopathy [RCV001432253] Chr12:40980946 [GRCh38]
Chr12:41374748 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.652A>G (p.Ile218Val) single nucleotide variant Compton-North congenital myopathy [RCV000791736]|not provided [RCV000482380] Chr12:40929951 [GRCh38]
Chr12:41323753 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1888A>G (p.Asn630Asp) single nucleotide variant not provided [RCV000486700] Chr12:40980992 [GRCh38]
Chr12:41374794 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2687T>C (p.Ile896Thr) single nucleotide variant Compton-North congenital myopathy [RCV001347441]|not provided [RCV000482604] Chr12:41025313 [GRCh38]
Chr12:41419115 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2644G>A (p.Gly882Arg) single nucleotide variant Compton-North congenital myopathy [RCV001205215]|not provided [RCV000487172] Chr12:41025270 [GRCh38]
Chr12:41419072 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.1814G>A (p.Gly605Asp) single nucleotide variant Compton-North congenital myopathy [RCV001857085]|Inborn genetic diseases [RCV003362803]|not specified [RCV000501670] Chr12:40980918 [GRCh38]
Chr12:41374720 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1749C>T (p.Cys583=) single nucleotide variant Compton-North congenital myopathy [RCV000871125]|not specified [RCV000503918] Chr12:40959179 [GRCh38]
Chr12:41352981 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.821G>A (p.Arg274Gln) single nucleotide variant Compton-North congenital myopathy [RCV001242120]|Inborn genetic diseases [RCV003159622]|not provided [RCV001508330]|not specified [RCV000501823] Chr12:40933714 [GRCh38]
Chr12:41327516 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_001843.4(CNTN1):c.644G>A (p.Ser215Asn) single nucleotide variant Compton-North congenital myopathy [RCV000556052]|not provided [RCV001584303] Chr12:40929943 [GRCh38]
Chr12:41323745 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.643A>G (p.Ser215Gly) single nucleotide variant Compton-North congenital myopathy [RCV000645983]|Inborn genetic diseases [RCV002528919]|not provided [RCV001551768] Chr12:40929942 [GRCh38]
Chr12:41323744 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2923G>T (p.Glu975Ter) single nucleotide variant Compton-North congenital myopathy [RCV000645985] Chr12:41029162 [GRCh38]
Chr12:41422964 [GRCh37]
Chr12:12q12		 pathogenic|uncertain significance
NM_001843.4(CNTN1):c.2294G>A (p.Gly765Asp) single nucleotide variant Compton-North congenital myopathy [RCV000556929] Chr12:41016791 [GRCh38]
Chr12:41410593 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2173A>G (p.Ile725Val) single nucleotide variant Inborn genetic diseases [RCV003300271] Chr12:41014287 [GRCh38]
Chr12:41408089 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1911C>T (p.Tyr637=) single nucleotide variant Compton-North congenital myopathy [RCV000872512]|not provided [RCV001722588] Chr12:40981015 [GRCh38]
Chr12:41374817 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.2114-17T>G single nucleotide variant Compton-North congenital myopathy [RCV002063312]|not specified [RCV000600559] Chr12:41014211 [GRCh38]
Chr12:41408013 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2178A>G (p.Thr726=) single nucleotide variant not specified [RCV000610584] Chr12:41014292 [GRCh38]
Chr12:41408094 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2100A>G (p.Lys700=) single nucleotide variant not specified [RCV000608132] Chr12:40993256 [GRCh38]
Chr12:41387058 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2447G>A (p.Gly816Asp) single nucleotide variant Inborn genetic diseases [RCV003249364] Chr12:41020364 [GRCh38]
Chr12:41414166 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2694T>C (p.Ala898=) single nucleotide variant Compton-North congenital myopathy [RCV002531580]|not specified [RCV000601093] Chr12:41025320 [GRCh38]
Chr12:41419122 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2184+10G>A single nucleotide variant Compton-North congenital myopathy [RCV000535471] Chr12:41014308 [GRCh38]
Chr12:41408110 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2185-11T>C single nucleotide variant not specified [RCV000609065] Chr12:41016671 [GRCh38]
Chr12:41410473 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.342T>C (p.Cys114=) single nucleotide variant Compton-North congenital myopathy [RCV002531628]|not specified [RCV000611773] Chr12:40922370 [GRCh38]
Chr12:41316172 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q11-12(chr12:37889608-41414167)x3 copy number gain See cases [RCV000512422] Chr12:37889608..41414167 [GRCh37]
Chr12:12q11-12		 uncertain significance
NM_001843.4(CNTN1):c.314A>G (p.Lys105Arg) single nucleotide variant Compton-North congenital myopathy [RCV000645982] Chr12:40922342 [GRCh38]
Chr12:41316144 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2002G>A (p.Ala668Thr) single nucleotide variant Compton-North congenital myopathy [RCV000645986] Chr12:40993158 [GRCh38]
Chr12:41386960 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1006C>T (p.His336Tyr) single nucleotide variant Compton-North congenital myopathy [RCV000645987] Chr12:40936801 [GRCh38]
Chr12:41330603 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1024G>A (p.Val342Met) single nucleotide variant Compton-North congenital myopathy [RCV000645988] Chr12:40936819 [GRCh38]
Chr12:41330621 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.971G>A (p.Arg324Lys) single nucleotide variant Compton-North congenital myopathy [RCV000645989] Chr12:40933864 [GRCh38]
Chr12:41327666 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.132A>G (p.Glu44=) single nucleotide variant Compton-North congenital myopathy [RCV000645990] Chr12:40918676 [GRCh38]
Chr12:41312478 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2823+5A>G single nucleotide variant CNTN1-related condition [RCV003980252]|Compton-North congenital myopathy [RCV000645991]|not provided [RCV001567322] Chr12:41027974 [GRCh38]
Chr12:41421776 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2980+7G>A single nucleotide variant Compton-North congenital myopathy [RCV001406922] Chr12:41029226 [GRCh38]
Chr12:41423028 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1281T>C (p.Ala427=) single nucleotide variant Compton-North congenital myopathy [RCV000645994] Chr12:40939387 [GRCh38]
Chr12:41333189 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1110G>A (p.Ala370=) single nucleotide variant Compton-North congenital myopathy [RCV000686653] Chr12:40936905 [GRCh38]
Chr12:41330707 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1895G>A (p.Ser632Asn) single nucleotide variant Compton-North congenital myopathy [RCV000698611] Chr12:40980999 [GRCh38]
Chr12:41374801 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2284C>G (p.Pro762Ala) single nucleotide variant Inborn genetic diseases [RCV002536326]|not provided [RCV000658390] Chr12:41016781 [GRCh38]
Chr12:41410583 [GRCh37]
Chr12:12q12		 uncertain significance
Single allele duplication not provided [RCV000678002] Chr12:40159287..43138820 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1190A>G (p.Tyr397Cys) single nucleotide variant Compton-North congenital myopathy [RCV000702220] Chr12:40937649 [GRCh38]
Chr12:41331451 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.907G>C (p.Glu303Gln) single nucleotide variant Compton-North congenital myopathy [RCV000686378] Chr12:40933800 [GRCh38]
Chr12:41327602 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.919A>G (p.Ile307Val) single nucleotide variant Compton-North congenital myopathy [RCV000686390] Chr12:40933812 [GRCh38]
Chr12:41327614 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.812C>T (p.Pro271Leu) single nucleotide variant Compton-North congenital myopathy [RCV000687917] Chr12:40933705 [GRCh38]
Chr12:41327507 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1466A>T (p.Asn489Ile) single nucleotide variant Compton-North congenital myopathy [RCV000695236] Chr12:40943683 [GRCh38]
Chr12:41337485 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.730A>G (p.Ile244Val) single nucleotide variant Compton-North congenital myopathy [RCV000703168] Chr12:40933487 [GRCh38]
Chr12:41327289 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.215dup (p.Val74fs) duplication Compton-North congenital myopathy [RCV000689042] Chr12:40918756..40918757 [GRCh38]
Chr12:41312558..41312559 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.2823+184T>C single nucleotide variant not provided [RCV001540749] Chr12:41028153 [GRCh38]
Chr12:41421955 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001843.4(CNTN1):c.2185-219C>G single nucleotide variant not provided [RCV001679023] Chr12:41016463 [GRCh38]
Chr12:41410265 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1963+85dup duplication not provided [RCV001681266] Chr12:40981151..40981152 [GRCh38]
Chr12:41374953..41374954 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.496+212T>A single nucleotide variant not provided [RCV001534069] Chr12:40924864 [GRCh38]
Chr12:41318666 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.62-189C>T single nucleotide variant not provided [RCV001574547] Chr12:40909884 [GRCh38]
Chr12:41303686 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.202C>T (p.Arg68Ter) single nucleotide variant not provided [RCV000760849] Chr12:40918746 [GRCh38]
Chr12:41312548 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_001843.4(CNTN1):c.*166G>A single nucleotide variant not provided [RCV001611024] Chr12:41070201 [GRCh38]
Chr12:41464003 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.803+65G>T single nucleotide variant not provided [RCV001648153] Chr12:40933625 [GRCh38]
Chr12:41327427 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.*210A>G single nucleotide variant not provided [RCV001549808] Chr12:41070245 [GRCh38]
Chr12:41464047 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2113+309_2113+312del deletion not provided [RCV001568607] Chr12:40993575..40993578 [GRCh38]
Chr12:41387377..41387380 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.95-7C>A single nucleotide variant Compton-North congenital myopathy [RCV001494843] Chr12:40918632 [GRCh38]
Chr12:41312434 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.633C>T (p.Cys211=) single nucleotide variant Compton-North congenital myopathy [RCV000878880] Chr12:40929932 [GRCh38]
Chr12:41323734 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1804+7G>A single nucleotide variant Compton-North congenital myopathy [RCV001455979] Chr12:40959241 [GRCh38]
Chr12:41353043 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1449A>G (p.Thr483=) single nucleotide variant Compton-North congenital myopathy [RCV001445408] Chr12:40943666 [GRCh38]
Chr12:41337468 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.228-5C>A single nucleotide variant Compton-North congenital myopathy [RCV001434542] Chr12:40922251 [GRCh38]
Chr12:41316053 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2604C>T (p.Leu868=) single nucleotide variant Compton-North congenital myopathy [RCV000877081] Chr12:41025230 [GRCh38]
Chr12:41419032 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1365T>G (p.Leu455=) single nucleotide variant Compton-North congenital myopathy [RCV001447094] Chr12:40939471 [GRCh38]
Chr12:41333273 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1229-8del deletion Compton-North congenital myopathy [RCV001432787] Chr12:40939327 [GRCh38]
Chr12:41333129 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1800G>A (p.Val600=) single nucleotide variant Compton-North congenital myopathy [RCV002066054] Chr12:40959230 [GRCh38]
Chr12:41353032 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1907A>C (p.Lys636Thr) single nucleotide variant Compton-North congenital myopathy [RCV001434045] Chr12:40981011 [GRCh38]
Chr12:41374813 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1745C>T (p.Thr582Ile) single nucleotide variant Compton-North congenital myopathy [RCV000950235] Chr12:40959175 [GRCh38]
Chr12:41352977 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.612C>T (p.Ser204=) single nucleotide variant Compton-North congenital myopathy [RCV000905893] Chr12:40929911 [GRCh38]
Chr12:41323713 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.401-8G>T single nucleotide variant not provided [RCV000947445] Chr12:40924549 [GRCh38]
Chr12:41318351 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1326G>A (p.Pro442=) single nucleotide variant Compton-North congenital myopathy [RCV002547213] Chr12:40939432 [GRCh38]
Chr12:41333234 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2826A>G (p.Val942=) single nucleotide variant not provided [RCV000902432] Chr12:41029065 [GRCh38]
Chr12:41422867 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2595G>C (p.Ser865=) single nucleotide variant Compton-North congenital myopathy [RCV001455946] Chr12:41025221 [GRCh38]
Chr12:41419023 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.3010G>A (p.Gly1004Ser) single nucleotide variant Compton-North congenital myopathy [RCV001055220] Chr12:41069988 [GRCh38]
Chr12:41463790 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.869C>T (p.Thr290Ile) single nucleotide variant Compton-North congenital myopathy [RCV001062295] Chr12:40933762 [GRCh38]
Chr12:41327564 [GRCh37]
Chr12:12q12		 uncertain significance
NC_000012.12:g.(?_40691442)_(41073412_?)dup duplication Compton-North congenital myopathy [RCV001032988] Chr12:41085244..41467214 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1484G>A (p.Ser495Asn) single nucleotide variant Compton-North congenital myopathy [RCV001042684]|Inborn genetic diseases [RCV003353121] Chr12:40943701 [GRCh38]
Chr12:41337503 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.694A>G (p.Ile232Val) single nucleotide variant Compton-North congenital myopathy [RCV001060598] Chr12:40929993 [GRCh38]
Chr12:41323795 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.495A>G (p.Pro165=) single nucleotide variant Compton-North congenital myopathy [RCV000808103] Chr12:40924651 [GRCh38]
Chr12:41318453 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2595G>A (p.Ser865=) single nucleotide variant Compton-North congenital myopathy [RCV000983524] Chr12:41025221 [GRCh38]
Chr12:41419023 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1692C>T (p.Ser564=) single nucleotide variant not provided [RCV000926409] Chr12:40959122 [GRCh38]
Chr12:41352924 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.268C>A (p.Arg90=) single nucleotide variant Compton-North congenital myopathy [RCV000919494] Chr12:40922296 [GRCh38]
Chr12:41316098 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1719G>A (p.Ala573=) single nucleotide variant Compton-North congenital myopathy [RCV000875482] Chr12:40959149 [GRCh38]
Chr12:41352951 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.189C>T (p.Leu63=) single nucleotide variant Compton-North congenital myopathy [RCV000875512] Chr12:40918733 [GRCh38]
Chr12:41312535 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2523+4C>T single nucleotide variant Compton-North congenital myopathy [RCV000876271]|not provided [RCV001555466] Chr12:41020444 [GRCh38]
Chr12:41414246 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.735A>T (p.Val245=) single nucleotide variant Compton-North congenital myopathy [RCV001429653] Chr12:40933492 [GRCh38]
Chr12:41327294 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2076C>G (p.Pro692=) single nucleotide variant Compton-North congenital myopathy [RCV001489703] Chr12:40993232 [GRCh38]
Chr12:41387034 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1875C>T (p.Ser625=) single nucleotide variant Compton-North congenital myopathy [RCV001502810] Chr12:40980979 [GRCh38]
Chr12:41374781 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1508-5T>C single nucleotide variant Compton-North congenital myopathy [RCV001408671] Chr12:40943990 [GRCh38]
Chr12:41337792 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.246G>C (p.Gly82=) single nucleotide variant Compton-North congenital myopathy [RCV000875925] Chr12:40922274 [GRCh38]
Chr12:41316076 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1563C>T (p.Asn521=) single nucleotide variant CNTN1-related condition [RCV003930430]|Compton-North congenital myopathy [RCV000875931]|not provided [RCV001585847] Chr12:40944050 [GRCh38]
Chr12:41337852 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.813G>A (p.Pro271=) single nucleotide variant Compton-North congenital myopathy [RCV000952135] Chr12:40933706 [GRCh38]
Chr12:41327508 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.496+230AT[9] microsatellite not provided [RCV000839291] Chr12:40924881..40924882 [GRCh38]
Chr12:41318683..41318684 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1964-159C>G single nucleotide variant not provided [RCV000841595] Chr12:40992961 [GRCh38]
Chr12:41386763 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2523+115A>C single nucleotide variant not provided [RCV000841596] Chr12:41020555 [GRCh38]
Chr12:41414357 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2981-81C>T single nucleotide variant not provided [RCV000841597] Chr12:41069878 [GRCh38]
Chr12:41463680 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.496+166T>C single nucleotide variant not provided [RCV000839637] Chr12:40924818 [GRCh38]
Chr12:41318620 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2981-238C>A single nucleotide variant not provided [RCV000839640] Chr12:41069721 [GRCh38]
Chr12:41463523 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2906A>G (p.Asp969Gly) single nucleotide variant Compton-North congenital myopathy [RCV000819345] Chr12:41029145 [GRCh38]
Chr12:41422947 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2981-72T>C single nucleotide variant not provided [RCV000839641] Chr12:41069887 [GRCh38]
Chr12:41463689 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.986-16del deletion Compton-North congenital myopathy [RCV002068557]|not provided [RCV000839676] Chr12:40936765 [GRCh38]
Chr12:41330567 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.398G>A (p.Gly133Glu) single nucleotide variant Compton-North congenital myopathy [RCV000823350] Chr12:40922426 [GRCh38]
Chr12:41316228 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1380-326G>A single nucleotide variant not provided [RCV000833098] Chr12:40943271 [GRCh38]
Chr12:41337073 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.265G>A (p.Asp89Asn) single nucleotide variant Compton-North congenital myopathy [RCV000799675] Chr12:40922293 [GRCh38]
Chr12:41316095 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1683+67A>G single nucleotide variant not provided [RCV000839895] Chr12:40944237 [GRCh38]
Chr12:41338039 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1380-149C>T single nucleotide variant not provided [RCV000840027] Chr12:40943448 [GRCh38]
Chr12:41337250 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.61+129A>G single nucleotide variant not provided [RCV000840060] Chr12:40908622 [GRCh38]
Chr12:41302424 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1315A>G (p.Lys439Glu) single nucleotide variant Compton-North congenital myopathy [RCV000823947] Chr12:40939421 [GRCh38]
Chr12:41333223 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2375A>T (p.Asp792Val) single nucleotide variant Compton-North congenital myopathy [RCV000814658] Chr12:41016872 [GRCh38]
Chr12:41410674 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1228+123T>C single nucleotide variant not provided [RCV000838795] Chr12:40937810 [GRCh38]
Chr12:41331612 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.497-118C>T single nucleotide variant not provided [RCV000838796] Chr12:40929678 [GRCh38]
Chr12:41323480 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1229-204T>C single nucleotide variant not provided [RCV000838797] Chr12:40939131 [GRCh38]
Chr12:41332933 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1229-92C>T single nucleotide variant not provided [RCV000838798] Chr12:40939243 [GRCh38]
Chr12:41333045 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1229-86dup duplication not provided [RCV000838800] Chr12:40939247..40939248 [GRCh38]
Chr12:41333049..41333050 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1229-85G>A single nucleotide variant not provided [RCV000838801] Chr12:40939250 [GRCh38]
Chr12:41333052 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2113+35A>G single nucleotide variant not provided [RCV000838806] Chr12:40993304 [GRCh38]
Chr12:41387106 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2113+39C>G single nucleotide variant not provided [RCV000838807] Chr12:40993308 [GRCh38]
Chr12:41387110 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2185-231C>T single nucleotide variant not provided [RCV000838808] Chr12:41016451 [GRCh38]
Chr12:41410253 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1805-9354del deletion Compton-North congenital myopathy [RCV000988813] Chr12:40971544 [GRCh38]
Chr12:41365346 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1228+4A>G single nucleotide variant Compton-North congenital myopathy [RCV000805648] Chr12:40937691 [GRCh38]
Chr12:41331493 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1074del (p.Ile359fs) deletion Compton-North congenital myopathy [RCV000811108] Chr12:40936867 [GRCh38]
Chr12:41330669 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.882T>C (p.Val294=) single nucleotide variant CNTN1-related condition [RCV003955543]|Compton-North congenital myopathy [RCV002062212]|not provided [RCV000827417] Chr12:40933775 [GRCh38]
Chr12:41327577 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1540G>A (p.Ala514Thr) single nucleotide variant Compton-North congenital myopathy [RCV000793616] Chr12:40944027 [GRCh38]
Chr12:41337829 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1964-179A>T single nucleotide variant not provided [RCV000838805] Chr12:40992941 [GRCh38]
Chr12:41386743 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1963+96A>G single nucleotide variant not provided [RCV000831666] Chr12:40981163 [GRCh38]
Chr12:41374965 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2419+45G>T single nucleotide variant not provided [RCV000831717] Chr12:41016961 [GRCh38]
Chr12:41410763 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.218C>T (p.Pro73Leu) single nucleotide variant Compton-North congenital myopathy [RCV000797384] Chr12:40918762 [GRCh38]
Chr12:41312564 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.62-50A>C single nucleotide variant not provided [RCV000839891] Chr12:40910023 [GRCh38]
Chr12:41303825 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.400+151A>C single nucleotide variant not provided [RCV000840063] Chr12:40922579 [GRCh38]
Chr12:41316381 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2185-344G>C single nucleotide variant not provided [RCV000832969] Chr12:41016338 [GRCh38]
Chr12:41410140 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2710+296A>G single nucleotide variant not provided [RCV000832970] Chr12:41025632 [GRCh38]
Chr12:41419434 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.733G>A (p.Val245Ile) single nucleotide variant Compton-North congenital myopathy [RCV000805541] Chr12:40933490 [GRCh38]
Chr12:41327292 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1110+67G>A single nucleotide variant not provided [RCV000829543] Chr12:40936972 [GRCh38]
Chr12:41330774 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2369A>C (p.Lys790Thr) single nucleotide variant Compton-North congenital myopathy [RCV000811732] Chr12:41016866 [GRCh38]
Chr12:41410668 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1228+308A>C single nucleotide variant not provided [RCV000830285] Chr12:40937995 [GRCh38]
Chr12:41331797 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.-76-325T>G single nucleotide variant not provided [RCV000831033] Chr12:40908032 [GRCh38]
Chr12:41301834 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.95-294G>A single nucleotide variant not provided [RCV000831034] Chr12:40918345 [GRCh38]
Chr12:41312147 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1526T>C (p.Leu509Ser) single nucleotide variant Compton-North congenital myopathy [RCV000807149] Chr12:40944013 [GRCh38]
Chr12:41337815 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1836A>G (p.Ile612Met) single nucleotide variant Compton-North congenital myopathy [RCV000794214] Chr12:40980940 [GRCh38]
Chr12:41374742 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2046A>T (p.Val682=) single nucleotide variant not provided [RCV000919240] Chr12:40993202 [GRCh38]
Chr12:41387004 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.761T>G (p.Leu254Trp) single nucleotide variant Compton-North congenital myopathy [RCV000819603] Chr12:40933518 [GRCh38]
Chr12:41327320 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2506del (p.Lys835_Ile836insTer) deletion Compton-North congenital myopathy [RCV000807301] Chr12:41020418 [GRCh38]
Chr12:41414220 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.2823+283G>A single nucleotide variant not provided [RCV000826875] Chr12:41028252 [GRCh38]
Chr12:41422054 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.986-52T>C single nucleotide variant not provided [RCV000838799] Chr12:40936729 [GRCh38]
Chr12:41330531 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1683+121G>A single nucleotide variant not provided [RCV000838802] Chr12:40944291 [GRCh38]
Chr12:41338093 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2524-171C>G single nucleotide variant not provided [RCV000838803] Chr12:41024979 [GRCh38]
Chr12:41418781 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1963+237A>G single nucleotide variant not provided [RCV000838804] Chr12:40981304 [GRCh38]
Chr12:41375106 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1508-3T>C single nucleotide variant Compton-North congenital myopathy [RCV000816267] Chr12:40943992 [GRCh38]
Chr12:41337794 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.61+79A>C single nucleotide variant not provided [RCV000839633] Chr12:40908572 [GRCh38]
Chr12:41302374 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.95-76A>T single nucleotide variant not provided [RCV000839634] Chr12:40918563 [GRCh38]
Chr12:41312365 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.401-94C>T single nucleotide variant not provided [RCV000839635] Chr12:40924463 [GRCh38]
Chr12:41318265 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.401-190G>T single nucleotide variant not provided [RCV000839636] Chr12:40924367 [GRCh38]
Chr12:41318169 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.497-112C>T single nucleotide variant not provided [RCV000839638] Chr12:40929684 [GRCh38]
Chr12:41323486 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2823+244G>A single nucleotide variant not provided [RCV000839639] Chr12:41028213 [GRCh38]
Chr12:41422015 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12(chr12:40977062-41361519)x3 copy number gain not provided [RCV001006498] Chr12:40977062..41361519 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2052C>A (p.Thr684=) single nucleotide variant not provided [RCV000994899] Chr12:40993208 [GRCh38]
Chr12:41387010 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2183C>T (p.Ala728Val) single nucleotide variant Compton-North congenital myopathy [RCV001231238] Chr12:41014297 [GRCh38]
Chr12:41408099 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1255C>A (p.Pro419Thr) single nucleotide variant Compton-North congenital myopathy [RCV001248698] Chr12:40939361 [GRCh38]
Chr12:41333163 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2326C>T (p.Pro776Ser) single nucleotide variant Compton-North congenital myopathy [RCV001231411] Chr12:41016823 [GRCh38]
Chr12:41410625 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.1051C>T (p.Pro351Ser) single nucleotide variant Compton-North congenital myopathy [RCV001224062]|not provided [RCV001773506] Chr12:40936846 [GRCh38]
Chr12:41330648 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1731T>G (p.His577Gln) single nucleotide variant Compton-North congenital myopathy [RCV001234556] Chr12:40959161 [GRCh38]
Chr12:41352963 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2038C>T (p.Arg680Cys) single nucleotide variant Compton-North congenital myopathy [RCV001209211] Chr12:40993194 [GRCh38]
Chr12:41386996 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.862A>G (p.Ile288Val) single nucleotide variant Compton-North congenital myopathy [RCV001237733]|Inborn genetic diseases [RCV003263876] Chr12:40933755 [GRCh38]
Chr12:41327557 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.512G>A (p.Arg171His) single nucleotide variant Compton-North congenital myopathy [RCV001243488] Chr12:40929811 [GRCh38]
Chr12:41323613 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1369A>G (p.Asn457Asp) single nucleotide variant Compton-North congenital myopathy [RCV001240726] Chr12:40939475 [GRCh38]
Chr12:41333277 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.618A>C (p.Lys206Asn) single nucleotide variant Compton-North congenital myopathy [RCV003106252] Chr12:40929917 [GRCh38]
Chr12:41323719 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2823+56C>G single nucleotide variant not provided [RCV001550154] Chr12:41028025 [GRCh38]
Chr12:41421827 [GRCh37]
Chr12:12q12		 likely benign
NC_000012.11:g.(?_41408010)_(41423041_?)del deletion Compton-North congenital myopathy [RCV003107485] Chr12:41408010..41423041 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.427C>G (p.Arg143Gly) single nucleotide variant Inborn genetic diseases [RCV003292564] Chr12:40924583 [GRCh38]
Chr12:41318385 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1111-72C>A single nucleotide variant not provided [RCV001655326] Chr12:40937498 [GRCh38]
Chr12:41331300 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2823+58A>G single nucleotide variant not provided [RCV001561068] Chr12:41028027 [GRCh38]
Chr12:41421829 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.400+287G>C single nucleotide variant not provided [RCV001576664] Chr12:40922715 [GRCh38]
Chr12:41316517 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.496+230AT[19] microsatellite not provided [RCV001621407] Chr12:40924881..40924882 [GRCh38]
Chr12:41318683..41318684 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.61+56G>A single nucleotide variant not provided [RCV001562541] Chr12:40908549 [GRCh38]
Chr12:41302351 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.496+230AT[21] microsatellite not provided [RCV001594099] Chr12:40924881..40924882 [GRCh38]
Chr12:41318683..41318684 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1111-202G>A single nucleotide variant not provided [RCV001586623] Chr12:40937368 [GRCh38]
Chr12:41331170 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.227+69C>T single nucleotide variant not provided [RCV001563046] Chr12:40918840 [GRCh38]
Chr12:41312642 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1229-113G>A single nucleotide variant not provided [RCV001563284] Chr12:40939222 [GRCh38]
Chr12:41333024 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.-76-51C>G single nucleotide variant not provided [RCV001718294] Chr12:40908306 [GRCh38]
Chr12:41302108 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.496+230AT[18] microsatellite not provided [RCV001653397] Chr12:40924881..40924882 [GRCh38]
Chr12:41318683..41318684 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.-189C>A single nucleotide variant not provided [RCV001680522] Chr12:40692480 [GRCh38]
Chr12:41086282 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.496+230AT[15] microsatellite not provided [RCV001620853] Chr12:40924881..40924882 [GRCh38]
Chr12:41318683..41318684 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.496+230AT[14] microsatellite not provided [RCV001654999] Chr12:40924881..40924882 [GRCh38]
Chr12:41318683..41318684 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1705C>T (p.Leu569=) single nucleotide variant not provided [RCV000932342] Chr12:40959135 [GRCh38]
Chr12:41352937 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2301T>C (p.Tyr767=) single nucleotide variant Compton-North congenital myopathy [RCV000909863] Chr12:41016798 [GRCh38]
Chr12:41410600 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2934G>A (p.Ala978=) single nucleotide variant Compton-North congenital myopathy [RCV000953937] Chr12:41029173 [GRCh38]
Chr12:41422975 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2188T>C (p.Leu730=) single nucleotide variant Compton-North congenital myopathy [RCV001439053] Chr12:41016685 [GRCh38]
Chr12:41410487 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1249A>G (p.Met417Val) single nucleotide variant Compton-North congenital myopathy [RCV001218465] Chr12:40939355 [GRCh38]
Chr12:41333157 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1813G>A (p.Gly605Ser) single nucleotide variant Compton-North congenital myopathy [RCV001238840] Chr12:40980917 [GRCh38]
Chr12:41374719 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1294G>A (p.Val432Met) single nucleotide variant Compton-North congenital myopathy [RCV001218943] Chr12:40939400 [GRCh38]
Chr12:41333202 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.1631G>A (p.Gly544Asp) single nucleotide variant Compton-North congenital myopathy [RCV001247632] Chr12:40944118 [GRCh38]
Chr12:41337920 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.773A>G (p.Asn258Ser) single nucleotide variant Compton-North congenital myopathy [RCV001035889] Chr12:40933530 [GRCh38]
Chr12:41327332 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2081T>C (p.Ile694Thr) single nucleotide variant Compton-North congenital myopathy [RCV001220281] Chr12:40993237 [GRCh38]
Chr12:41387039 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.1414A>C (p.Asn472His) single nucleotide variant Compton-North congenital myopathy [RCV001220692] Chr12:40943631 [GRCh38]
Chr12:41337433 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1088G>A (p.Arg363Gln) single nucleotide variant Compton-North congenital myopathy [RCV001217338] Chr12:40936883 [GRCh38]
Chr12:41330685 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2983G>A (p.Ala995Thr) single nucleotide variant Compton-North congenital myopathy [RCV001221336]|Inborn genetic diseases [RCV002563017]|not provided [RCV001551153] Chr12:41069961 [GRCh38]
Chr12:41463763 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2917G>A (p.Val973Ile) single nucleotide variant Compton-North congenital myopathy [RCV001070673] Chr12:41029156 [GRCh38]
Chr12:41422958 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1723C>T (p.Leu575=) single nucleotide variant Compton-North congenital myopathy [RCV001422062] Chr12:40959153 [GRCh38]
Chr12:41352955 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1122G>A (p.Gly374=) single nucleotide variant Compton-North congenital myopathy [RCV001505922] Chr12:40937581 [GRCh38]
Chr12:41331383 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2058A>T (p.Thr686=) single nucleotide variant Compton-North congenital myopathy [RCV000934086] Chr12:40993214 [GRCh38]
Chr12:41387016 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.497-267C>G single nucleotide variant not provided [RCV001556731] Chr12:40929529 [GRCh38]
Chr12:41323331 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2823+189A>T single nucleotide variant not provided [RCV001570007] Chr12:41028158 [GRCh38]
Chr12:41421960 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.985+211G>C single nucleotide variant not provided [RCV001557389] Chr12:40934089 [GRCh38]
Chr12:41327891 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2420-328del deletion not provided [RCV001593850] Chr12:41020001 [GRCh38]
Chr12:41413803 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2523+257C>T single nucleotide variant not provided [RCV001541427] Chr12:41020697 [GRCh38]
Chr12:41414499 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.803+64T>G single nucleotide variant not provided [RCV001677618] Chr12:40933624 [GRCh38]
Chr12:41327426 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1963+126T>A single nucleotide variant not provided [RCV001643333] Chr12:40981193 [GRCh38]
Chr12:41374995 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2184+34G>A single nucleotide variant not provided [RCV001677751] Chr12:41014332 [GRCh38]
Chr12:41408134 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1379+73A>G single nucleotide variant not provided [RCV001673707] Chr12:40939558 [GRCh38]
Chr12:41333360 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1379+114del deletion not provided [RCV001715744] Chr12:40939590 [GRCh38]
Chr12:41333392 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1228+236A>T single nucleotide variant not provided [RCV001638197] Chr12:40937923 [GRCh38]
Chr12:41331725 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.2184G>A (p.Ala728=) single nucleotide variant Compton-North congenital myopathy [RCV001046743] Chr12:41014298 [GRCh38]
Chr12:41408100 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1804+321T>A single nucleotide variant not provided [RCV001588522] Chr12:40959555 [GRCh38]
Chr12:41353357 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2419+304_2419+305del microsatellite not provided [RCV001611443] Chr12:41017217..41017218 [GRCh38]
Chr12:41411019..41411020 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.1228+249T>C single nucleotide variant not provided [RCV001583412] Chr12:40937936 [GRCh38]
Chr12:41331738 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.-77+241A>G single nucleotide variant not provided [RCV001682262] Chr12:40692833 [GRCh38]
Chr12:41086635 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.304A>C (p.Asn102His) single nucleotide variant Compton-North congenital myopathy [RCV001070074] Chr12:40922332 [GRCh38]
Chr12:41316134 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2523+51C>T single nucleotide variant not provided [RCV001566445] Chr12:41020491 [GRCh38]
Chr12:41414293 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2524-162T>G single nucleotide variant not provided [RCV001583907] Chr12:41024988 [GRCh38]
Chr12:41418790 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1762A>G (p.Ile588Val) single nucleotide variant Compton-North congenital myopathy [RCV001035246] Chr12:40959192 [GRCh38]
Chr12:41352994 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.565G>C (p.Val189Leu) single nucleotide variant Compton-North congenital myopathy [RCV001050980] Chr12:40929864 [GRCh38]
Chr12:41323666 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2788G>T (p.Ala930Ser) single nucleotide variant Compton-North congenital myopathy [RCV001051044] Chr12:41027934 [GRCh38]
Chr12:41421736 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1694A>G (p.Asn565Ser) single nucleotide variant Compton-North congenital myopathy [RCV001232178] Chr12:40959124 [GRCh38]
Chr12:41352926 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.695T>C (p.Ile232Thr) single nucleotide variant Compton-North congenital myopathy [RCV001235112] Chr12:40929994 [GRCh38]
Chr12:41323796 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2041G>A (p.Val681Met) single nucleotide variant Compton-North congenital myopathy [RCV001059266] Chr12:40993197 [GRCh38]
Chr12:41386999 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1099A>G (p.Asn367Asp) single nucleotide variant Compton-North congenital myopathy [RCV001228987]|Inborn genetic diseases [RCV002563155] Chr12:40936894 [GRCh38]
Chr12:41330696 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
GRCh37/hg19 12q12(chr12:39580744-42470754)x3 copy number gain not provided [RCV001006496] Chr12:39580744..42470754 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.160G>A (p.Glu54Lys) single nucleotide variant Compton-North congenital myopathy [RCV001064652] Chr12:40918704 [GRCh38]
Chr12:41312506 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2107G>A (p.Gly703Ser) single nucleotide variant Compton-North congenital myopathy [RCV001040525] Chr12:40993263 [GRCh38]
Chr12:41387065 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2813C>T (p.Thr938Met) single nucleotide variant Compton-North congenital myopathy [RCV001041641] Chr12:41027959 [GRCh38]
Chr12:41421761 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1864C>T (p.Leu622Phe) single nucleotide variant Compton-North congenital myopathy [RCV001245909]|Inborn genetic diseases [RCV003263895] Chr12:40980968 [GRCh38]
Chr12:41374770 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2426G>C (p.Ser809Thr) single nucleotide variant Compton-North congenital myopathy [RCV001057137] Chr12:41020343 [GRCh38]
Chr12:41414145 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.227A>G (p.Lys76Arg) single nucleotide variant Compton-North congenital myopathy [RCV001049071] Chr12:40918771 [GRCh38]
Chr12:41312573 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.61+74G>A single nucleotide variant not provided [RCV001545530] Chr12:40908567 [GRCh38]
Chr12:41302369 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2184+217G>A single nucleotide variant not provided [RCV001540423] Chr12:41014515 [GRCh38]
Chr12:41408317 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12(chr12:40678619-43945453)x4 copy number gain not provided [RCV001259137] Chr12:40678619..43945453 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:40476826-41337435)x3 copy number gain not provided [RCV001259139] Chr12:40476826..41337435 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2113+294del deletion not provided [RCV001575523] Chr12:40993562 [GRCh38]
Chr12:41387364 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1681A>G (p.Met561Val) single nucleotide variant Compton-North congenital myopathy [RCV001889423] Chr12:40944168 [GRCh38]
Chr12:41337970 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1271T>C (p.Ile424Thr) single nucleotide variant Compton-North congenital myopathy [RCV001301697] Chr12:40939377 [GRCh38]
Chr12:41333179 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1876C>T (p.Arg626Cys) single nucleotide variant Compton-North congenital myopathy [RCV001332045]|Inborn genetic diseases [RCV003263969] Chr12:40980980 [GRCh38]
Chr12:41374782 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.410C>T (p.Pro137Leu) single nucleotide variant Compton-North congenital myopathy [RCV001296346] Chr12:40924566 [GRCh38]
Chr12:41318368 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2527C>T (p.Arg843Trp) single nucleotide variant Compton-North congenital myopathy [RCV001303800] Chr12:41025153 [GRCh38]
Chr12:41418955 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.950G>A (p.Gly317Glu) single nucleotide variant Compton-North congenital myopathy [RCV001338161] Chr12:40933843 [GRCh38]
Chr12:41327645 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1996G>T (p.Ala666Ser) single nucleotide variant Compton-North congenital myopathy [RCV001313466] Chr12:40993152 [GRCh38]
Chr12:41386954 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.61+5G>A single nucleotide variant Compton-North congenital myopathy [RCV001339252] Chr12:40908498 [GRCh38]
Chr12:41302300 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1070A>C (p.Lys357Thr) single nucleotide variant Compton-North congenital myopathy [RCV001363171] Chr12:40936865 [GRCh38]
Chr12:41330667 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1691C>T (p.Ser564Phe) single nucleotide variant Compton-North congenital myopathy [RCV001359323] Chr12:40959121 [GRCh38]
Chr12:41352923 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.131A>T (p.Glu44Val) single nucleotide variant Compton-North congenital myopathy [RCV001349910] Chr12:40918675 [GRCh38]
Chr12:41312477 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.653T>C (p.Ile218Thr) single nucleotide variant Compton-North congenital myopathy [RCV001299118] Chr12:40929952 [GRCh38]
Chr12:41323754 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1664A>G (p.His555Arg) single nucleotide variant Compton-North congenital myopathy [RCV001316584] Chr12:40944151 [GRCh38]
Chr12:41337953 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2252G>A (p.Gly751Glu) single nucleotide variant Compton-North congenital myopathy [RCV001340859] Chr12:41016749 [GRCh38]
Chr12:41410551 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.908A>C (p.Glu303Ala) single nucleotide variant Compton-North congenital myopathy [RCV001323082] Chr12:40933801 [GRCh38]
Chr12:41327603 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2530T>C (p.Tyr844His) single nucleotide variant Compton-North congenital myopathy [RCV001302011] Chr12:41025156 [GRCh38]
Chr12:41418958 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1948A>G (p.Lys650Glu) single nucleotide variant Compton-North congenital myopathy [RCV001316868] Chr12:40981052 [GRCh38]
Chr12:41374854 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2495T>G (p.Val832Gly) single nucleotide variant Compton-North congenital myopathy [RCV001302430] Chr12:41020412 [GRCh38]
Chr12:41414214 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1292G>A (p.Arg431Lys) single nucleotide variant Compton-North congenital myopathy [RCV001363589] Chr12:40939398 [GRCh38]
Chr12:41333200 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2537C>T (p.Ala846Val) single nucleotide variant Compton-North congenital myopathy [RCV001359747] Chr12:41025163 [GRCh38]
Chr12:41418965 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.497-7C>A single nucleotide variant Compton-North congenital myopathy [RCV001373140] Chr12:40929789 [GRCh38]
Chr12:41323591 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.40T>A (p.Ser14Thr) single nucleotide variant Compton-North congenital myopathy [RCV001306154] Chr12:40908472 [GRCh38]
Chr12:41302274 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1013A>G (p.Asn338Ser) single nucleotide variant Compton-North congenital myopathy [RCV001318234] Chr12:40936808 [GRCh38]
Chr12:41330610 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.1583C>T (p.Ala528Val) single nucleotide variant Compton-North congenital myopathy [RCV001319637] Chr12:40944070 [GRCh38]
Chr12:41337872 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2395G>A (p.Ala799Thr) single nucleotide variant Compton-North congenital myopathy [RCV001321195] Chr12:41016892 [GRCh38]
Chr12:41410694 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.512G>T (p.Arg171Leu) single nucleotide variant Compton-North congenital myopathy [RCV001302741] Chr12:40929811 [GRCh38]
Chr12:41323613 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.918C>T (p.Gly306=) single nucleotide variant Compton-North congenital myopathy [RCV001366236] Chr12:40933811 [GRCh38]
Chr12:41327613 [GRCh37]
Chr12:12q12		 likely benign|uncertain significance
NM_001843.4(CNTN1):c.678C>A (p.Phe226Leu) single nucleotide variant Compton-North congenital myopathy [RCV001350476] Chr12:40929977 [GRCh38]
Chr12:41323779 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1722G>A (p.Gln574=) single nucleotide variant Compton-North congenital myopathy [RCV001394903]|not provided [RCV003394029] Chr12:40959152 [GRCh38]
Chr12:41352954 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2931C>T (p.Arg977=) single nucleotide variant Compton-North congenital myopathy [RCV001421112] Chr12:41029170 [GRCh38]
Chr12:41422972 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
NM_001843.4(CNTN1):c.228-3_228-2del deletion Compton-North congenital myopathy [RCV001296508] Chr12:40922252..40922253 [GRCh38]
Chr12:41316054..41316055 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.541A>G (p.Ile181Val) single nucleotide variant Compton-North congenital myopathy [RCV001318751] Chr12:40929840 [GRCh38]
Chr12:41323642 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.43A>G (p.Ile15Val) single nucleotide variant Compton-North congenital myopathy [RCV001327801] Chr12:40908475 [GRCh38]
Chr12:41302277 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2880C>T (p.His960=) single nucleotide variant Compton-North congenital myopathy [RCV001396158] Chr12:41029119 [GRCh38]
Chr12:41422921 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2106C>T (p.Asp702=) single nucleotide variant Compton-North congenital myopathy [RCV001478124] Chr12:40993262 [GRCh38]
Chr12:41387064 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.858T>A (p.Ala286=) single nucleotide variant Compton-North congenital myopathy [RCV001502473] Chr12:40933751 [GRCh38]
Chr12:41327553 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1515G>A (p.Thr505=) single nucleotide variant Compton-North congenital myopathy [RCV001466702] Chr12:40944002 [GRCh38]
Chr12:41337804 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.348A>G (p.Ala116=) single nucleotide variant Compton-North congenital myopathy [RCV001466814] Chr12:40922376 [GRCh38]
Chr12:41316178 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1185C>T (p.Asn395=) single nucleotide variant Compton-North congenital myopathy [RCV001458488] Chr12:40937644 [GRCh38]
Chr12:41331446 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2853T>C (p.Asp951=) single nucleotide variant Compton-North congenital myopathy [RCV001468546] Chr12:41029092 [GRCh38]
Chr12:41422894 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.803+9A>T single nucleotide variant Compton-North congenital myopathy [RCV001486128] Chr12:40933569 [GRCh38]
Chr12:41327371 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.315A>G (p.Lys105=) single nucleotide variant Compton-North congenital myopathy [RCV001492596] Chr12:40922343 [GRCh38]
Chr12:41316145 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.401-6A>G single nucleotide variant Compton-North congenital myopathy [RCV001492647] Chr12:40924551 [GRCh38]
Chr12:41318353 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.873T>A (p.Ser291=) single nucleotide variant CNTN1-related condition [RCV003931128]|Compton-North congenital myopathy [RCV001521030]|not provided [RCV001587457] Chr12:40933766 [GRCh38]
Chr12:41327568 [GRCh37]
Chr12:12q12		 benign|likely benign
NM_001843.4(CNTN1):c.803+7A>G single nucleotide variant Compton-North congenital myopathy [RCV001470013] Chr12:40933567 [GRCh38]
Chr12:41327369 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.252T>A (p.Val84=) single nucleotide variant Compton-North congenital myopathy [RCV001418443] Chr12:40922280 [GRCh38]
Chr12:41316082 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1584G>A (p.Ala528=) single nucleotide variant Compton-North congenital myopathy [RCV001399439] Chr12:40944071 [GRCh38]
Chr12:41337873 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1963+10_1963+13del deletion Compton-North congenital myopathy [RCV001423830] Chr12:40981074..40981077 [GRCh38]
Chr12:41374876..41374879 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2448T>C (p.Gly816=) single nucleotide variant Compton-North congenital myopathy [RCV001447945] Chr12:41020365 [GRCh38]
Chr12:41414167 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1111-7T>C single nucleotide variant Compton-North congenital myopathy [RCV001406393] Chr12:40937563 [GRCh38]
Chr12:41331365 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2307T>C (p.His769=) single nucleotide variant Compton-North congenital myopathy [RCV001478644] Chr12:41016804 [GRCh38]
Chr12:41410606 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1662T>A (p.Ile554=) single nucleotide variant Compton-North congenital myopathy [RCV001450684] Chr12:40944149 [GRCh38]
Chr12:41337951 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1626C>T (p.Phe542=) single nucleotide variant Compton-North congenital myopathy [RCV001469386] Chr12:40944113 [GRCh38]
Chr12:41337915 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2052C>T (p.Thr684=) single nucleotide variant Compton-North congenital myopathy [RCV001480892] Chr12:40993208 [GRCh38]
Chr12:41387010 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2113+280dup duplication not provided [RCV001675061] Chr12:40993546..40993547 [GRCh38]
Chr12:41387348..41387349 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.760T>C (p.Leu254=) single nucleotide variant Compton-North congenital myopathy [RCV001468906] Chr12:40933517 [GRCh38]
Chr12:41327319 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1341A>G (p.Ser447=) single nucleotide variant Compton-North congenital myopathy [RCV001467343] Chr12:40939447 [GRCh38]
Chr12:41333249 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2524-6T>C single nucleotide variant Compton-North congenital myopathy [RCV001452596] Chr12:41025144 [GRCh38]
Chr12:41418946 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1230G>A (p.Ala410=) single nucleotide variant Compton-North congenital myopathy [RCV001474252] Chr12:40939336 [GRCh38]
Chr12:41333138 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2721G>A (p.Gln907=) single nucleotide variant Compton-North congenital myopathy [RCV001482301] Chr12:41027867 [GRCh38]
Chr12:41421669 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1158C>T (p.Ala386=) single nucleotide variant Compton-North congenital myopathy [RCV001406412] Chr12:40937617 [GRCh38]
Chr12:41331419 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.612C>G (p.Ser204=) single nucleotide variant Compton-North congenital myopathy [RCV001429567] Chr12:40929911 [GRCh38]
Chr12:41323713 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1356A>G (p.Thr452=) single nucleotide variant Compton-North congenital myopathy [RCV001483385] Chr12:40939462 [GRCh38]
Chr12:41333264 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.429T>C (p.Arg143=) single nucleotide variant Compton-North congenital myopathy [RCV001400136] Chr12:40924585 [GRCh38]
Chr12:41318387 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.401-8G>A single nucleotide variant Compton-North congenital myopathy [RCV001478560] Chr12:40924549 [GRCh38]
Chr12:41318351 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.693A>G (p.Pro231=) single nucleotide variant Compton-North congenital myopathy [RCV001393530] Chr12:40929992 [GRCh38]
Chr12:41323794 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.201A>G (p.Ala67=) single nucleotide variant Compton-North congenital myopathy [RCV001400753] Chr12:40918745 [GRCh38]
Chr12:41312547 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2826A>T (p.Val942=) single nucleotide variant Compton-North congenital myopathy [RCV001483927] Chr12:41029065 [GRCh38]
Chr12:41422867 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.750T>C (p.Asp250=) single nucleotide variant Compton-North congenital myopathy [RCV001452486] Chr12:40933507 [GRCh38]
Chr12:41327309 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.227+10C>T single nucleotide variant Compton-North congenital myopathy [RCV001435418] Chr12:40918781 [GRCh38]
Chr12:41312583 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.855T>C (p.Thr285=) single nucleotide variant Compton-North congenital myopathy [RCV002540509]|not provided [RCV001769367] Chr12:40933748 [GRCh38]
Chr12:41327550 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.296T>C (p.Val99Ala) single nucleotide variant not provided [RCV001773039] Chr12:40922324 [GRCh38]
Chr12:41316126 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1913C>A (p.Thr638Asn) single nucleotide variant not provided [RCV001767685] Chr12:40981017 [GRCh38]
Chr12:41374819 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.82T>C (p.Tyr28His) single nucleotide variant Compton-North congenital myopathy [RCV002044925] Chr12:40910093 [GRCh38]
Chr12:41303895 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1615del (p.Val539fs) deletion Compton-North congenital myopathy [RCV001985084] Chr12:40944102 [GRCh38]
Chr12:41337904 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.1966C>T (p.Pro656Ser) single nucleotide variant Compton-North congenital myopathy [RCV001950277] Chr12:40993122 [GRCh38]
Chr12:41386924 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.774T>G (p.Asn258Lys) single nucleotide variant Compton-North congenital myopathy [RCV002022264] Chr12:40933531 [GRCh38]
Chr12:41327333 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1140T>A (p.Asp380Glu) single nucleotide variant Compton-North congenital myopathy [RCV001872485] Chr12:40937599 [GRCh38]
Chr12:41331401 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.330A>T (p.Gly110=) single nucleotide variant Compton-North congenital myopathy [RCV002045068] Chr12:40922358 [GRCh38]
Chr12:41316160 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2005G>A (p.Val669Met) single nucleotide variant Compton-North congenital myopathy [RCV001871490] Chr12:40993161 [GRCh38]
Chr12:41386963 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2365A>G (p.Asn789Asp) single nucleotide variant Compton-North congenital myopathy [RCV001910022] Chr12:41016862 [GRCh38]
Chr12:41410664 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2594C>T (p.Ser865Leu) single nucleotide variant Compton-North congenital myopathy [RCV002003204] Chr12:41025220 [GRCh38]
Chr12:41419022 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.428G>C (p.Arg143Pro) single nucleotide variant Compton-North congenital myopathy [RCV002002100] Chr12:40924584 [GRCh38]
Chr12:41318386 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1739G>A (p.Arg580Lys) single nucleotide variant Compton-North congenital myopathy [RCV001910716] Chr12:40959169 [GRCh38]
Chr12:41352971 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.724G>A (p.Ala242Thr) single nucleotide variant Compton-North congenital myopathy [RCV001967433] Chr12:40933481 [GRCh38]
Chr12:41327283 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_001843.4(CNTN1):c.2626C>G (p.Gln876Glu) single nucleotide variant Compton-North congenital myopathy [RCV001927128] Chr12:41025252 [GRCh38]
Chr12:41419054 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.564T>A (p.Phe188Leu) single nucleotide variant Compton-North congenital myopathy [RCV001928525] Chr12:40929863 [GRCh38]
Chr12:41323665 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2183C>A (p.Ala728Glu) single nucleotide variant Compton-North congenital myopathy [RCV001968136] Chr12:41014297 [GRCh38]
Chr12:41408099 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1109C>T (p.Ala370Val) single nucleotide variant Compton-North congenital myopathy [RCV001872954] Chr12:40936904 [GRCh38]
Chr12:41330706 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2998C>T (p.Pro1000Ser) single nucleotide variant Compton-North congenital myopathy [RCV002006729] Chr12:41069976 [GRCh38]
Chr12:41463778 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2816G>T (p.Gly939Val) single nucleotide variant Compton-North congenital myopathy [RCV001912314] Chr12:41027962 [GRCh38]
Chr12:41421764 [GRCh37]
Chr12:12q12		 uncertain significance
GRCh37/hg19 12q12(chr12:39598809-41141181) copy number gain not specified [RCV002052990] Chr12:39598809..41141181 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1381A>C (p.Ile461Leu) single nucleotide variant Compton-North congenital myopathy [RCV001913411] Chr12:40943598 [GRCh38]
Chr12:41337400 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2632_2636del (p.Phe878fs) deletion Compton-North congenital myopathy [RCV001942255] Chr12:41025255..41025259 [GRCh38]
Chr12:41419057..41419061 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.1285G>T (p.Gly429Cys) single nucleotide variant Compton-North congenital myopathy [RCV001981860] Chr12:40939391 [GRCh38]
Chr12:41333193 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.775G>A (p.Val259Met) single nucleotide variant Compton-North congenital myopathy [RCV001880650] Chr12:40933532 [GRCh38]
Chr12:41327334 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2495T>C (p.Val832Ala) single nucleotide variant Compton-North congenital myopathy [RCV002037104]|Inborn genetic diseases [RCV003289106] Chr12:41020412 [GRCh38]
Chr12:41414214 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3047T>C (p.Leu1016Ser) single nucleotide variant Compton-North congenital myopathy [RCV001944133] Chr12:41070025 [GRCh38]
Chr12:41463827 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3023C>T (p.Pro1008Leu) single nucleotide variant Compton-North congenital myopathy [RCV001904584] Chr12:41070001 [GRCh38]
Chr12:41463803 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1642G>A (p.Asp548Asn) single nucleotide variant Compton-North congenital myopathy [RCV002038698] Chr12:40944129 [GRCh38]
Chr12:41337931 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.697C>G (p.Pro233Ala) single nucleotide variant Compton-North congenital myopathy [RCV001919899] Chr12:40929996 [GRCh38]
Chr12:41323798 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.499G>A (p.Asp167Asn) single nucleotide variant Compton-North congenital myopathy [RCV002037351] Chr12:40929798 [GRCh38]
Chr12:41323600 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2759G>A (p.Arg920His) single nucleotide variant Compton-North congenital myopathy [RCV001974807] Chr12:41027905 [GRCh38]
Chr12:41421707 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.771A>G (p.Gln257=) single nucleotide variant Compton-North congenital myopathy [RCV001961140] Chr12:40933528 [GRCh38]
Chr12:41327330 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1358A>G (p.Glu453Gly) single nucleotide variant Compton-North congenital myopathy [RCV002033323] Chr12:40939464 [GRCh38]
Chr12:41333266 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2597_2710+7delinsTT indel Compton-North congenital myopathy [RCV002033339] Chr12:41025223..41025343 [GRCh38]
Chr12:41419025..41419145 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_001843.4(CNTN1):c.751G>A (p.Val251Ile) single nucleotide variant Compton-North congenital myopathy [RCV001918913] Chr12:40933508 [GRCh38]
Chr12:41327310 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1444T>C (p.Tyr482His) single nucleotide variant Compton-North congenital myopathy [RCV001933513] Chr12:40943661 [GRCh38]
Chr12:41337463 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.262A>G (p.Ser88Gly) single nucleotide variant Compton-North congenital myopathy [RCV001992542] Chr12:40922290 [GRCh38]
Chr12:41316092 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1229C>T (p.Ala410Val) single nucleotide variant Compton-North congenital myopathy [RCV001879011] Chr12:40939335 [GRCh38]
Chr12:41333137 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1415ACA[1] (p.Asn473del) microsatellite Compton-North congenital myopathy [RCV001919433] Chr12:40943630..40943632 [GRCh38]
Chr12:41337432..41337434 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3050A>C (p.Glu1017Ala) single nucleotide variant Compton-North congenital myopathy [RCV001867822] Chr12:41070028 [GRCh38]
Chr12:41463830 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2543A>C (p.His848Pro) single nucleotide variant Compton-North congenital myopathy [RCV001955133] Chr12:41025169 [GRCh38]
Chr12:41418971 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.27T>A (p.His9Gln) single nucleotide variant Compton-North congenital myopathy [RCV001921030] Chr12:40908459 [GRCh38]
Chr12:41302261 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.901C>G (p.Gln301Glu) single nucleotide variant Compton-North congenital myopathy [RCV002009969] Chr12:40933794 [GRCh38]
Chr12:41327596 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2304C>T (p.Val768=) single nucleotide variant Compton-North congenital myopathy [RCV001994823] Chr12:41016801 [GRCh38]
Chr12:41410603 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1950A>C (p.Lys650Asn) single nucleotide variant Compton-North congenital myopathy [RCV002031957] Chr12:40981054 [GRCh38]
Chr12:41374856 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2683A>C (p.Met895Leu) single nucleotide variant Compton-North congenital myopathy [RCV001917919] Chr12:41025309 [GRCh38]
Chr12:41419111 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1754C>T (p.Ala585Val) single nucleotide variant Compton-North congenital myopathy [RCV001981726] Chr12:40959184 [GRCh38]
Chr12:41352986 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2524A>G (p.Ile842Val) single nucleotide variant Compton-North congenital myopathy [RCV001936848] Chr12:41025150 [GRCh38]
Chr12:41418952 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.726T>A (p.Ala242=) single nucleotide variant Compton-North congenital myopathy [RCV001991629] Chr12:40933483 [GRCh38]
Chr12:41327285 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.62del (p.Glu21fs) deletion Compton-North congenital myopathy [RCV001981916] Chr12:40910073 [GRCh38]
Chr12:41303875 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.626A>T (p.Tyr209Phe) single nucleotide variant Compton-North congenital myopathy [RCV001956852] Chr12:40929925 [GRCh38]
Chr12:41323727 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.985+6T>C single nucleotide variant Compton-North congenital myopathy [RCV002030090] Chr12:40933884 [GRCh38]
Chr12:41327686 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1912A>G (p.Thr638Ala) single nucleotide variant Compton-North congenital myopathy [RCV001936332] Chr12:40981016 [GRCh38]
Chr12:41374818 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.203G>A (p.Arg68Gln) single nucleotide variant Compton-North congenital myopathy [RCV001935335] Chr12:40918747 [GRCh38]
Chr12:41312549 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.826C>T (p.Arg276Trp) single nucleotide variant Compton-North congenital myopathy [RCV002027761]|Inborn genetic diseases [RCV002548977] Chr12:40933719 [GRCh38]
Chr12:41327521 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.62A>G (p.Glu21Gly) single nucleotide variant Compton-North congenital myopathy [RCV002033944] Chr12:40910073 [GRCh38]
Chr12:41303875 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1508A>T (p.Asp503Val) single nucleotide variant Compton-North congenital myopathy [RCV001901274]|not provided [RCV003481172] Chr12:40943995 [GRCh38]
Chr12:41337797 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1065A>G (p.Thr355=) single nucleotide variant Compton-North congenital myopathy [RCV002167669] Chr12:40936860 [GRCh38]
Chr12:41330662 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2805T>A (p.Ser935=) single nucleotide variant Compton-North congenital myopathy [RCV002187965] Chr12:41027951 [GRCh38]
Chr12:41421753 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1804+7G>C single nucleotide variant Compton-North congenital myopathy [RCV002104467] Chr12:40959241 [GRCh38]
Chr12:41353043 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.94+15G>C single nucleotide variant Compton-North congenital myopathy [RCV002106665] Chr12:40910120 [GRCh38]
Chr12:41303922 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.827G>A (p.Arg276Gln) single nucleotide variant Compton-North congenital myopathy [RCV002108630] Chr12:40933720 [GRCh38]
Chr12:41327522 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2058A>G (p.Thr686=) single nucleotide variant Compton-North congenital myopathy [RCV002127599] Chr12:40993214 [GRCh38]
Chr12:41387016 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.497-4C>T single nucleotide variant Compton-North congenital myopathy [RCV002104806] Chr12:40929792 [GRCh38]
Chr12:41323594 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.804-17G>C single nucleotide variant Compton-North congenital myopathy [RCV002085284] Chr12:40933680 [GRCh38]
Chr12:41327482 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.168A>C (p.Ser56=) single nucleotide variant Compton-North congenital myopathy [RCV002126879] Chr12:40918712 [GRCh38]
Chr12:41312514 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1275G>C (p.Leu425=) single nucleotide variant Compton-North congenital myopathy [RCV002174756] Chr12:40939381 [GRCh38]
Chr12:41333183 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.703+17T>A single nucleotide variant Compton-North congenital myopathy [RCV002193407] Chr12:40930019 [GRCh38]
Chr12:41323821 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1323A>G (p.Ala441=) single nucleotide variant Compton-North congenital myopathy [RCV002092592] Chr12:40939429 [GRCh38]
Chr12:41333231 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2784C>T (p.Val928=) single nucleotide variant Compton-North congenital myopathy [RCV002211919] Chr12:41027930 [GRCh38]
Chr12:41421732 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1932T>C (p.Ile644=) single nucleotide variant Compton-North congenital myopathy [RCV002149192] Chr12:40981036 [GRCh38]
Chr12:41374838 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.246G>A (p.Gly82=) single nucleotide variant Compton-North congenital myopathy [RCV002075376] Chr12:40922274 [GRCh38]
Chr12:41316076 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.225C>T (p.Tyr75=) single nucleotide variant Compton-North congenital myopathy [RCV002212779] Chr12:40918769 [GRCh38]
Chr12:41312571 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.804-13C>G single nucleotide variant Compton-North congenital myopathy [RCV002111870] Chr12:40933684 [GRCh38]
Chr12:41327486 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.986-16G>C single nucleotide variant Compton-North congenital myopathy [RCV002081028] Chr12:40936765 [GRCh38]
Chr12:41330567 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2928T>C (p.Val976=) single nucleotide variant Compton-North congenital myopathy [RCV002095885] Chr12:41029167 [GRCh38]
Chr12:41422969 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.42T>C (p.Ser14=) single nucleotide variant Compton-North congenital myopathy [RCV002130324] Chr12:40908474 [GRCh38]
Chr12:41302276 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2059C>T (p.Leu687=) single nucleotide variant Compton-North congenital myopathy [RCV002128677] Chr12:40993215 [GRCh38]
Chr12:41387017 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.227+23dup duplication Compton-North congenital myopathy [RCV002196640] Chr12:40918790..40918791 [GRCh38]
Chr12:41312592..41312593 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.401-17T>G single nucleotide variant Compton-North congenital myopathy [RCV002105810] Chr12:40924540 [GRCh38]
Chr12:41318342 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2524-11A>T single nucleotide variant Compton-North congenital myopathy [RCV002071633] Chr12:41025139 [GRCh38]
Chr12:41418941 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.400+8A>C single nucleotide variant Compton-North congenital myopathy [RCV002132529] Chr12:40922436 [GRCh38]
Chr12:41316238 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1546A>G (p.Ile516Val) single nucleotide variant Compton-North congenital myopathy [RCV002194000] Chr12:40944033 [GRCh38]
Chr12:41337835 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1239A>G (p.Pro413=) single nucleotide variant Compton-North congenital myopathy [RCV002194030] Chr12:40939345 [GRCh38]
Chr12:41333147 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.219G>A (p.Pro73=) single nucleotide variant Compton-North congenital myopathy [RCV002103771] Chr12:40918763 [GRCh38]
Chr12:41312565 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.704-11C>G single nucleotide variant Compton-North congenital myopathy [RCV002154996] Chr12:40933450 [GRCh38]
Chr12:41327252 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1508-16A>G single nucleotide variant Compton-North congenital myopathy [RCV002158202] Chr12:40943979 [GRCh38]
Chr12:41337781 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2523+12T>C single nucleotide variant Compton-North congenital myopathy [RCV002084195] Chr12:41020452 [GRCh38]
Chr12:41414254 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2382T>A (p.Pro794=) single nucleotide variant Compton-North congenital myopathy [RCV002098804] Chr12:41016879 [GRCh38]
Chr12:41410681 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1380-18A>G single nucleotide variant Compton-North congenital myopathy [RCV002164622] Chr12:40943579 [GRCh38]
Chr12:41337381 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.84T>C (p.Tyr28=) single nucleotide variant Compton-North congenital myopathy [RCV002144206] Chr12:40910095 [GRCh38]
Chr12:41303897 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2163A>G (p.Arg721=) single nucleotide variant Compton-North congenital myopathy [RCV002135485] Chr12:41014277 [GRCh38]
Chr12:41408079 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2420-13C>T single nucleotide variant Compton-North congenital myopathy [RCV002081395] Chr12:41020324 [GRCh38]
Chr12:41414126 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2916C>T (p.Tyr972=) single nucleotide variant Compton-North congenital myopathy [RCV002157721] Chr12:41029155 [GRCh38]
Chr12:41422957 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.804-19T>C single nucleotide variant Compton-North congenital myopathy [RCV002156003] Chr12:40933678 [GRCh38]
Chr12:41327480 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2981-18T>C single nucleotide variant Compton-North congenital myopathy [RCV002083487] Chr12:41069941 [GRCh38]
Chr12:41463743 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1542C>T (p.Ala514=) single nucleotide variant Compton-North congenital myopathy [RCV002181644] Chr12:40944029 [GRCh38]
Chr12:41337831 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2419+21_2419+23del microsatellite Compton-North congenital myopathy [RCV002102132] Chr12:41016934..41016936 [GRCh38]
Chr12:41410736..41410738 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.249C>T (p.Asp83=) single nucleotide variant Compton-North congenital myopathy [RCV002081843] Chr12:40922277 [GRCh38]
Chr12:41316079 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.61+16T>C single nucleotide variant Compton-North congenital myopathy [RCV002184205] Chr12:40908509 [GRCh38]
Chr12:41302311 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2814G>A (p.Thr938=) single nucleotide variant Compton-North congenital myopathy [RCV002122266] Chr12:41027960 [GRCh38]
Chr12:41421762 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1380-14T>G single nucleotide variant Compton-North congenital myopathy [RCV002182549] Chr12:40943583 [GRCh38]
Chr12:41337385 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1590T>C (p.Phe530=) single nucleotide variant Compton-North congenital myopathy [RCV003116045] Chr12:40944077 [GRCh38]
Chr12:41337879 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2711-19A>G single nucleotide variant Compton-North congenital myopathy [RCV003112069] Chr12:41027838 [GRCh38]
Chr12:41421640 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1398T>C (p.Asp466=) single nucleotide variant Compton-North congenital myopathy [RCV003115719] Chr12:40943615 [GRCh38]
Chr12:41337417 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.20T>A (p.Val7Asp) single nucleotide variant Compton-North congenital myopathy [RCV003120047] Chr12:40908452 [GRCh38]
Chr12:41302254 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.720T>C (p.Tyr240=) single nucleotide variant Compton-North congenital myopathy [RCV003622321] Chr12:40933477 [GRCh38]
Chr12:41327279 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.895A>G (p.Asn299Asp) single nucleotide variant not provided [RCV002281516] Chr12:40933788 [GRCh38]
Chr12:41327590 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1631G>T (p.Gly544Val) single nucleotide variant Compton-North congenital myopathy [RCV002304274] Chr12:40944118 [GRCh38]
Chr12:41337920 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2144G>A (p.Gly715Asp) single nucleotide variant Compton-North congenital myopathy [RCV002299177] Chr12:41014258 [GRCh38]
Chr12:41408060 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.663C>G (p.Ser221Arg) single nucleotide variant Compton-North congenital myopathy [RCV002303002] Chr12:40929962 [GRCh38]
Chr12:41323764 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1804+16T>A single nucleotide variant Compton-North congenital myopathy [RCV003032659] Chr12:40959250 [GRCh38]
Chr12:41353052 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2730G>A (p.Arg910=) single nucleotide variant Compton-North congenital myopathy [RCV002686290] Chr12:41027876 [GRCh38]
Chr12:41421678 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2758C>T (p.Arg920Cys) single nucleotide variant Compton-North congenital myopathy [RCV002971890] Chr12:41027904 [GRCh38]
Chr12:41421706 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.49A>C (p.Thr17Pro) single nucleotide variant Compton-North congenital myopathy [RCV002903450] Chr12:40908481 [GRCh38]
Chr12:41302283 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.457G>C (p.Gly153Arg) single nucleotide variant Compton-North congenital myopathy [RCV002839306] Chr12:40924613 [GRCh38]
Chr12:41318415 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.497-16C>T single nucleotide variant Compton-North congenital myopathy [RCV003073799] Chr12:40929780 [GRCh38]
Chr12:41323582 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12(chr12:39560669-43285298)x1 copy number loss not provided [RCV002475769] Chr12:39560669..43285298 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.882T>A (p.Val294=) single nucleotide variant Compton-North congenital myopathy [RCV002775606] Chr12:40933775 [GRCh38]
Chr12:41327577 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2605G>A (p.Glu869Lys) single nucleotide variant Compton-North congenital myopathy [RCV002776466]|Inborn genetic diseases [RCV002791041] Chr12:41025231 [GRCh38]
Chr12:41419033 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2185-6A>G single nucleotide variant Compton-North congenital myopathy [RCV003013317] Chr12:41016676 [GRCh38]
Chr12:41410478 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1507+15G>T single nucleotide variant Compton-North congenital myopathy [RCV002734826] Chr12:40943739 [GRCh38]
Chr12:41337541 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1027G>A (p.Asp343Asn) single nucleotide variant Inborn genetic diseases [RCV002841625] Chr12:40936822 [GRCh38]
Chr12:41330624 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.770A>G (p.Gln257Arg) single nucleotide variant Compton-North congenital myopathy [RCV002816148] Chr12:40933527 [GRCh38]
Chr12:41327329 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1110+8T>A single nucleotide variant Compton-North congenital myopathy [RCV002862263] Chr12:40936913 [GRCh38]
Chr12:41330715 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3037C>A (p.Leu1013Ile) single nucleotide variant Compton-North congenital myopathy [RCV003621673]|Inborn genetic diseases [RCV002733059] Chr12:41070015 [GRCh38]
Chr12:41463817 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1964-15A>C single nucleotide variant Compton-North congenital myopathy [RCV003002419] Chr12:40993105 [GRCh38]
Chr12:41386907 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1078C>G (p.Pro360Ala) single nucleotide variant Compton-North congenital myopathy [RCV002593247] Chr12:40936873 [GRCh38]
Chr12:41330675 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1508-6A>G single nucleotide variant Compton-North congenital myopathy [RCV002909591] Chr12:40943989 [GRCh38]
Chr12:41337791 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1470_1471del (p.Gly491fs) microsatellite Compton-North congenital myopathy [RCV002999441] Chr12:40943685..40943686 [GRCh38]
Chr12:41337487..41337488 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.2139A>G (p.Val713=) single nucleotide variant Compton-North congenital myopathy [RCV003021051] Chr12:41014253 [GRCh38]
Chr12:41408055 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.21C>T (p.Val7=) single nucleotide variant Compton-North congenital myopathy [RCV002914144] Chr12:40908453 [GRCh38]
Chr12:41302255 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2620G>C (p.Asp874His) single nucleotide variant Compton-North congenital myopathy [RCV002999091] Chr12:41025246 [GRCh38]
Chr12:41419048 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2523+5G>A single nucleotide variant Compton-North congenital myopathy [RCV002620630] Chr12:41020445 [GRCh38]
Chr12:41414247 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1636G>C (p.Val546Leu) single nucleotide variant Compton-North congenital myopathy [RCV003036695] Chr12:40944123 [GRCh38]
Chr12:41337925 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2273_2274del (p.Thr758fs) microsatellite Compton-North congenital myopathy [RCV002949395] Chr12:41016768..41016769 [GRCh38]
Chr12:41410570..41410571 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.2727A>C (p.Pro909=) single nucleotide variant Compton-North congenital myopathy [RCV002886436] Chr12:41027873 [GRCh38]
Chr12:41421675 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.646C>T (p.Pro216Ser) single nucleotide variant Compton-North congenital myopathy [RCV002760911] Chr12:40929945 [GRCh38]
Chr12:41323747 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2153G>A (p.Gly718Glu) single nucleotide variant Compton-North congenital myopathy [RCV003020146] Chr12:41014267 [GRCh38]
Chr12:41408069 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2324G>T (p.Ser775Ile) single nucleotide variant Compton-North congenital myopathy [RCV002796471] Chr12:41016821 [GRCh38]
Chr12:41410623 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1564G>A (p.Ala522Thr) single nucleotide variant Compton-North congenital myopathy [RCV002795715] Chr12:40944051 [GRCh38]
Chr12:41337853 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2146G>A (p.Gly716Arg) single nucleotide variant Compton-North congenital myopathy [RCV002780284] Chr12:41014260 [GRCh38]
Chr12:41408062 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.480C>G (p.Pro160=) single nucleotide variant Compton-North congenital myopathy [RCV002766767] Chr12:40924636 [GRCh38]
Chr12:41318438 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2896A>G (p.Ile966Val) single nucleotide variant Compton-North congenital myopathy [RCV003058596] Chr12:41029135 [GRCh38]
Chr12:41422937 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2246T>G (p.Phe749Cys) single nucleotide variant Compton-North congenital myopathy [RCV002828390] Chr12:41016743 [GRCh38]
Chr12:41410545 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2751T>C (p.Ser917=) single nucleotide variant Compton-North congenital myopathy [RCV002958437] Chr12:41027897 [GRCh38]
Chr12:41421699 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2725C>G (p.Pro909Ala) single nucleotide variant Compton-North congenital myopathy [RCV003057710] Chr12:41027871 [GRCh38]
Chr12:41421673 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2854G>A (p.Gly952Ser) single nucleotide variant Compton-North congenital myopathy [RCV002829711] Chr12:41029093 [GRCh38]
Chr12:41422895 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1228+10A>G single nucleotide variant Compton-North congenital myopathy [RCV002894992] Chr12:40937697 [GRCh38]
Chr12:41331499 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2114-19A>G single nucleotide variant Compton-North congenital myopathy [RCV002701148] Chr12:41014209 [GRCh38]
Chr12:41408011 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1874G>T (p.Ser625Ile) single nucleotide variant Compton-North congenital myopathy [RCV003059118] Chr12:40980978 [GRCh38]
Chr12:41374780 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1757A>G (p.Gln586Arg) single nucleotide variant Compton-North congenital myopathy [RCV002594654] Chr12:40959187 [GRCh38]
Chr12:41352989 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1491A>T (p.Gly497=) single nucleotide variant Compton-North congenital myopathy [RCV002595594] Chr12:40943708 [GRCh38]
Chr12:41337510 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.68C>T (p.Thr23Ile) single nucleotide variant Compton-North congenital myopathy [RCV003005338] Chr12:40910079 [GRCh38]
Chr12:41303881 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2510T>G (p.Val837Gly) single nucleotide variant Compton-North congenital myopathy [RCV002805285] Chr12:41020427 [GRCh38]
Chr12:41414229 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1931T>G (p.Ile644Ser) single nucleotide variant Inborn genetic diseases [RCV002763520] Chr12:40981035 [GRCh38]
Chr12:41374837 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2113+7A>G single nucleotide variant Compton-North congenital myopathy [RCV003058746] Chr12:40993276 [GRCh38]
Chr12:41387078 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.62-15T>C single nucleotide variant Compton-North congenital myopathy [RCV002790769] Chr12:40910058 [GRCh38]
Chr12:41303860 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2930G>A (p.Arg977His) single nucleotide variant Compton-North congenital myopathy [RCV002625278] Chr12:41029169 [GRCh38]
Chr12:41422971 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.436G>A (p.Val146Ile) single nucleotide variant Compton-North congenital myopathy [RCV003084332] Chr12:40924592 [GRCh38]
Chr12:41318394 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1258A>G (p.Met420Val) single nucleotide variant Compton-North congenital myopathy [RCV002982462] Chr12:40939364 [GRCh38]
Chr12:41333166 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2285C>G (p.Pro762Arg) single nucleotide variant Compton-North congenital myopathy [RCV002575763] Chr12:41016782 [GRCh38]
Chr12:41410584 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.185C>T (p.Ser62Leu) single nucleotide variant Inborn genetic diseases [RCV002916424] Chr12:40918729 [GRCh38]
Chr12:41312531 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.3002G>A (p.Ser1001Asn) single nucleotide variant Compton-North congenital myopathy [RCV002851317] Chr12:41069980 [GRCh38]
Chr12:41463782 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1259T>C (p.Met420Thr) single nucleotide variant Compton-North congenital myopathy [RCV002917584] Chr12:40939365 [GRCh38]
Chr12:41333167 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2710+20T>C single nucleotide variant Compton-North congenital myopathy [RCV002663886] Chr12:41025356 [GRCh38]
Chr12:41419158 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1804+5G>A single nucleotide variant Compton-North congenital myopathy [RCV002766096] Chr12:40959239 [GRCh38]
Chr12:41353041 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1228+8T>C single nucleotide variant Compton-North congenital myopathy [RCV002957346] Chr12:40937695 [GRCh38]
Chr12:41331497 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2664G>T (p.Gly888=) single nucleotide variant Compton-North congenital myopathy [RCV002700781] Chr12:41025290 [GRCh38]
Chr12:41419092 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2418C>T (p.Asp806=) single nucleotide variant Compton-North congenital myopathy [RCV002625736] Chr12:41016915 [GRCh38]
Chr12:41410717 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.409C>G (p.Pro137Ala) single nucleotide variant Compton-North congenital myopathy [RCV003085349] Chr12:40924565 [GRCh38]
Chr12:41318367 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2711-11A>G single nucleotide variant Compton-North congenital myopathy [RCV002675485] Chr12:41027846 [GRCh38]
Chr12:41421648 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.281T>C (p.Val94Ala) single nucleotide variant Compton-North congenital myopathy [RCV002599401]|Inborn genetic diseases [RCV003161912] Chr12:40922309 [GRCh38]
Chr12:41316111 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2454A>G (p.Lys818=) single nucleotide variant Compton-North congenital myopathy [RCV003048315] Chr12:41020371 [GRCh38]
Chr12:41414173 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2140G>C (p.Gly714Arg) single nucleotide variant Compton-North congenital myopathy [RCV002967071] Chr12:41014254 [GRCh38]
Chr12:41408056 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.480C>T (p.Pro160=) single nucleotide variant Compton-North congenital myopathy [RCV003091384] Chr12:40924636 [GRCh38]
Chr12:41318438 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.707C>A (p.Thr236Lys) single nucleotide variant Compton-North congenital myopathy [RCV002579867] Chr12:40933464 [GRCh38]
Chr12:41327266 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.61+11T>G single nucleotide variant Compton-North congenital myopathy [RCV002811467] Chr12:40908504 [GRCh38]
Chr12:41302306 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.216C>T (p.Phe72=) single nucleotide variant Compton-North congenital myopathy [RCV002577554] Chr12:40918760 [GRCh38]
Chr12:41312562 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.227+20T>C single nucleotide variant Compton-North congenital myopathy [RCV002988506] Chr12:40918791 [GRCh38]
Chr12:41312593 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2297G>T (p.Arg766Leu) single nucleotide variant Compton-North congenital myopathy [RCV002938144] Chr12:41016794 [GRCh38]
Chr12:41410596 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.107A>G (p.Asp36Gly) single nucleotide variant Compton-North congenital myopathy [RCV002963237]|Inborn genetic diseases [RCV003170772] Chr12:40918651 [GRCh38]
Chr12:41312453 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.803+14C>T single nucleotide variant Compton-North congenital myopathy [RCV002629049] Chr12:40933574 [GRCh38]
Chr12:41327376 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2524-9T>C single nucleotide variant Compton-North congenital myopathy [RCV003028404] Chr12:41025141 [GRCh38]
Chr12:41418943 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2035T>A (p.Phe679Ile) single nucleotide variant Compton-North congenital myopathy [RCV002876959] Chr12:40993191 [GRCh38]
Chr12:41386993 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.949G>A (p.Gly317Arg) single nucleotide variant Inborn genetic diseases [RCV002939740] Chr12:40933842 [GRCh38]
Chr12:41327644 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.701_703dup (p.Glu234_Arg235insGln) duplication Compton-North congenital myopathy [RCV003046954] Chr12:40929999..40930000 [GRCh38]
Chr12:41323801..41323802 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.496+20_496+23del deletion Compton-North congenital myopathy [RCV003089950] Chr12:40924670..40924673 [GRCh38]
Chr12:41318472..41318475 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.228-8del deletion Compton-North congenital myopathy [RCV002720523] Chr12:40922244 [GRCh38]
Chr12:41316046 [GRCh37]
Chr12:12q12		 benign
NM_001843.4(CNTN1):c.269G>A (p.Arg90Gln) single nucleotide variant Compton-North congenital myopathy [RCV002646150] Chr12:40922297 [GRCh38]
Chr12:41316099 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1116T>G (p.His372Gln) single nucleotide variant Compton-North congenital myopathy [RCV002629505] Chr12:40937575 [GRCh38]
Chr12:41331377 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1641C>A (p.Ile547=) single nucleotide variant Compton-North congenital myopathy [RCV003029726] Chr12:40944128 [GRCh38]
Chr12:41337930 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.441A>G (p.Arg147=) single nucleotide variant Compton-North congenital myopathy [RCV002629221] Chr12:40924597 [GRCh38]
Chr12:41318399 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2167C>G (p.Leu723Val) single nucleotide variant Compton-North congenital myopathy [RCV002647995] Chr12:41014281 [GRCh38]
Chr12:41408083 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.184T>G (p.Ser62Ala) single nucleotide variant Inborn genetic diseases [RCV002921601] Chr12:40918728 [GRCh38]
Chr12:41312530 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2712T>C (p.Pro904=) single nucleotide variant Compton-North congenital myopathy [RCV002635506] Chr12:41027858 [GRCh38]
Chr12:41421660 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2772C>G (p.Thr924=) single nucleotide variant Compton-North congenital myopathy [RCV002635507] Chr12:41027918 [GRCh38]
Chr12:41421720 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.692C>T (p.Pro231Leu) single nucleotide variant Compton-North congenital myopathy [RCV002654984] Chr12:40929991 [GRCh38]
Chr12:41323793 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.2710+12G>A single nucleotide variant Compton-North congenital myopathy [RCV002633289] Chr12:41025348 [GRCh38]
Chr12:41419150 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1507+10T>C single nucleotide variant Compton-North congenital myopathy [RCV002584394] Chr12:40943734 [GRCh38]
Chr12:41337536 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.221T>G (p.Val74Gly) single nucleotide variant Compton-North congenital myopathy [RCV003092431] Chr12:40918765 [GRCh38]
Chr12:41312567 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.94+4A>G single nucleotide variant Compton-North congenital myopathy [RCV002604313] Chr12:40910109 [GRCh38]
Chr12:41303911 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1789G>C (p.Asp597His) single nucleotide variant Compton-North congenital myopathy [RCV002654924] Chr12:40959219 [GRCh38]
Chr12:41353021 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1110+15G>A single nucleotide variant Compton-North congenital myopathy [RCV003069886] Chr12:40936920 [GRCh38]
Chr12:41330722 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1508-4A>G single nucleotide variant Compton-North congenital myopathy [RCV002585107] Chr12:40943991 [GRCh38]
Chr12:41337793 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.268C>T (p.Arg90Ter) single nucleotide variant Compton-North congenital myopathy [RCV003051748] Chr12:40922296 [GRCh38]
Chr12:41316098 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.497-19A>T single nucleotide variant Compton-North congenital myopathy [RCV002606652] Chr12:40929777 [GRCh38]
Chr12:41323579 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2542C>A (p.His848Asn) single nucleotide variant Inborn genetic diseases [RCV003193327] Chr12:41025168 [GRCh38]
Chr12:41418970 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1151A>G (p.Glu384Gly) single nucleotide variant Inborn genetic diseases [RCV003210109] Chr12:40937610 [GRCh38]
Chr12:41331412 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.56T>C (p.Leu19Ser) single nucleotide variant Compton-North congenital myopathy [RCV003623121] Chr12:40908488 [GRCh38]
Chr12:41302290 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1805-17C>T single nucleotide variant Compton-North congenital myopathy [RCV003623225] Chr12:40980892 [GRCh38]
Chr12:41374694 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.94+2T>C single nucleotide variant Compton-North congenital myopathy [RCV003623600] Chr12:40910107 [GRCh38]
Chr12:41303909 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_001843.4(CNTN1):c.804-7T>C single nucleotide variant Compton-North congenital myopathy [RCV003623541] Chr12:40933690 [GRCh38]
Chr12:41327492 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.704-1G>A single nucleotide variant Compton-North congenital myopathy [RCV003623750] Chr12:40933460 [GRCh38]
Chr12:41327262 [GRCh37]
Chr12:12q12		 likely pathogenic
NM_001843.4(CNTN1):c.621C>A (p.Gly207=) single nucleotide variant Compton-North congenital myopathy [RCV003622564] Chr12:40929920 [GRCh38]
Chr12:41323722 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2484T>C (p.His828=) single nucleotide variant Compton-North congenital myopathy [RCV003622317] Chr12:41020401 [GRCh38]
Chr12:41414203 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.756T>C (p.Tyr252=) single nucleotide variant Compton-North congenital myopathy [RCV003831517] Chr12:40933513 [GRCh38]
Chr12:41327315 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2396C>T (p.Ala799Val) single nucleotide variant Compton-North congenital myopathy [RCV003486044] Chr12:41016893 [GRCh38]
Chr12:41410695 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1964-17C>A single nucleotide variant Compton-North congenital myopathy [RCV003509098] Chr12:40993103 [GRCh38]
Chr12:41386905 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.946A>C (p.Arg316=) single nucleotide variant Compton-North congenital myopathy [RCV003510754] Chr12:40933839 [GRCh38]
Chr12:41327641 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2754T>A (p.Gly918=) single nucleotide variant Compton-North congenital myopathy [RCV003511413] Chr12:41027900 [GRCh38]
Chr12:41421702 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.3054C>T (p.Phe1018=) single nucleotide variant Compton-North congenital myopathy [RCV003509374] Chr12:41070032 [GRCh38]
Chr12:41463834 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1508-13del deletion Compton-North congenital myopathy [RCV003511117] Chr12:40943980 [GRCh38]
Chr12:41337782 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2769C>T (p.Ile923=) single nucleotide variant Compton-North congenital myopathy [RCV003511136] Chr12:41027915 [GRCh38]
Chr12:41421717 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2169G>T (p.Leu723=) single nucleotide variant Compton-North congenital myopathy [RCV003511250] Chr12:41014283 [GRCh38]
Chr12:41408085 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2823+18T>C single nucleotide variant Compton-North congenital myopathy [RCV003511160] Chr12:41027987 [GRCh38]
Chr12:41421789 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2367C>T (p.Asn789=) single nucleotide variant Compton-North congenital myopathy [RCV003510591] Chr12:41016864 [GRCh38]
Chr12:41410666 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1746A>G (p.Thr582=) single nucleotide variant Compton-North congenital myopathy [RCV003879527] Chr12:40959176 [GRCh38]
Chr12:41352978 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2016C>T (p.Ile672=) single nucleotide variant Compton-North congenital myopathy [RCV003510154] Chr12:40993172 [GRCh38]
Chr12:41386974 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2824-15T>A single nucleotide variant Compton-North congenital myopathy [RCV003509245] Chr12:41029048 [GRCh38]
Chr12:41422850 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.438C>T (p.Val146=) single nucleotide variant Compton-North congenital myopathy [RCV003511137] Chr12:40924594 [GRCh38]
Chr12:41318396 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1110+16T>G single nucleotide variant Compton-North congenital myopathy [RCV003511149] Chr12:40936921 [GRCh38]
Chr12:41330723 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.482dup (p.Tyr162fs) duplication Compton-North congenital myopathy [RCV003851074] Chr12:40924632..40924633 [GRCh38]
Chr12:41318434..41318435 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.2524-16T>C single nucleotide variant Compton-North congenital myopathy [RCV003814137] Chr12:41025134 [GRCh38]
Chr12:41418936 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.739C>T (p.Gln247Ter) single nucleotide variant Compton-North congenital myopathy [RCV003859142] Chr12:40933496 [GRCh38]
Chr12:41327298 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.227+13G>A single nucleotide variant Compton-North congenital myopathy [RCV003822742] Chr12:40918784 [GRCh38]
Chr12:41312586 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.573G>A (p.Gln191=) single nucleotide variant Compton-North congenital myopathy [RCV003621764] Chr12:40929872 [GRCh38]
Chr12:41323674 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2114-15del deletion Compton-North congenital myopathy [RCV003622228] Chr12:41014213 [GRCh38]
Chr12:41408015 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.95-5T>C single nucleotide variant Compton-North congenital myopathy [RCV003622238] Chr12:40918634 [GRCh38]
Chr12:41312436 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1719G>T (p.Ala573=) single nucleotide variant Compton-North congenital myopathy [RCV003863962] Chr12:40959149 [GRCh38]
Chr12:41352951 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2184+15G>C single nucleotide variant Compton-North congenital myopathy [RCV003848286] Chr12:41014313 [GRCh38]
Chr12:41408115 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2088T>C (p.Ser696=) single nucleotide variant Compton-North congenital myopathy [RCV003622029] Chr12:40993244 [GRCh38]
Chr12:41387046 [GRCh37]
Chr12:12q12		 likely benign
GRCh37/hg19 12q12-13.11(chr12:38258635-48235837)x3 copy number gain not specified [RCV003987001] Chr12:38258635..48235837 [GRCh37]
Chr12:12q12-13.11		 pathogenic
NM_001843.4(CNTN1):c.2981-12T>C single nucleotide variant Compton-North congenital myopathy [RCV003621779] Chr12:41069947 [GRCh38]
Chr12:41463749 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1711C>T (p.Arg571Ter) single nucleotide variant Compton-North congenital myopathy [RCV003622204] Chr12:40959141 [GRCh38]
Chr12:41352943 [GRCh37]
Chr12:12q12		 pathogenic
NM_001843.4(CNTN1):c.227+12C>T single nucleotide variant Compton-North congenital myopathy [RCV003821007] Chr12:40918783 [GRCh38]
Chr12:41312585 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1507+17G>A single nucleotide variant Compton-North congenital myopathy [RCV003621850] Chr12:40943741 [GRCh38]
Chr12:41337543 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.1295T>A (p.Val432Glu) single nucleotide variant Compton-North congenital myopathy [RCV003621781] Chr12:40939401 [GRCh38]
Chr12:41333203 [GRCh37]
Chr12:12q12		 uncertain significance
NM_001843.4(CNTN1):c.1804+13A>C single nucleotide variant Compton-North congenital myopathy [RCV003621990] Chr12:40959247 [GRCh38]
Chr12:41353049 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2787T>G (p.Val929=) single nucleotide variant CNTN1-related condition [RCV003962200] Chr12:41027933 [GRCh38]
Chr12:41421735 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.2184+9T>G single nucleotide variant CNTN1-related condition [RCV003951549] Chr12:41014307 [GRCh38]
Chr12:41408109 [GRCh37]
Chr12:12q12		 likely benign
NM_001843.4(CNTN1):c.227+7T>C single nucleotide variant CNTN1-related condition [RCV003981445] Chr12:40918778 [GRCh38]
Chr12:41312580 [GRCh37]
Chr12:12q12		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2309
Count of miRNA genes:863
Interacting mature miRNAs:1032
Transcripts:ENST00000347616, ENST00000348761, ENST00000360099, ENST00000547702, ENST00000547849, ENST00000548005, ENST00000548481, ENST00000550305, ENST00000551295, ENST00000551424, ENST00000552248, ENST00000552913
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.

Markers in Region
D12S1668  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,203,528 - 41,203,771UniSTSGRCh37
Build 361239,489,795 - 39,490,038RGDNCBI36
Celera1240,006,777 - 40,007,014RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,229,809 - 38,230,046UniSTS
Marshfield Genetic Map1255.29UniSTS
Marshfield Genetic Map1255.29RGD
Genethon Genetic Map1256.5UniSTS
deCODE Assembly Map1256.91UniSTS
D12S1065  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,458,545 - 41,458,734UniSTSGRCh37
Build 361239,744,812 - 39,745,001RGDNCBI36
Celera1240,261,850 - 40,262,043RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,484,836 - 38,485,029UniSTS
G31049  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,381,807 - 41,381,940UniSTSGRCh37
Build 361239,668,074 - 39,668,207RGDNCBI36
Celera1240,185,095 - 40,185,228RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,408,247 - 38,408,380UniSTS
RH93881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,465,189 - 41,465,360UniSTSGRCh37
Build 361239,751,456 - 39,751,627RGDNCBI36
Celera1240,268,501 - 40,268,672RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,491,487 - 38,491,658UniSTS
GeneMap99-GB4 RH Map12216.45UniSTS
RH80961  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,465,179 - 41,465,413UniSTSGRCh37
Build 361239,751,446 - 39,751,680RGDNCBI36
Celera1240,268,491 - 40,268,725RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,491,477 - 38,491,711UniSTS
GeneMap99-GB4 RH Map12195.78UniSTS
RH122104  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,452,531 - 41,452,849UniSTSGRCh37
Build 361239,738,798 - 39,739,116RGDNCBI36
Celera1240,255,837 - 40,256,155RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,478,826 - 38,479,144UniSTS
TNG Radiation Hybrid Map1217715.0UniSTS
RH121228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,194,842 - 41,195,149UniSTSGRCh37
Build 361239,481,109 - 39,481,416RGDNCBI36
Celera1239,998,095 - 39,998,402RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,221,127 - 38,221,434UniSTS
TNG Radiation Hybrid Map1218070.0UniSTS
D12S114E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,148,432 - 41,148,503UniSTSGRCh37
Build 361239,434,699 - 39,434,770RGDNCBI36
Celera1239,951,805 - 39,951,876RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,175,133 - 38,175,204UniSTS
D12S860  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,290,234 - 41,290,535UniSTSGRCh37
Build 361239,576,501 - 39,576,802RGDNCBI36
Celera1240,093,553 - 40,093,854RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,316,513 - 38,316,814UniSTS
D12S1526E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,464,443 - 41,464,623UniSTSGRCh37
Build 361239,750,710 - 39,750,890RGDNCBI36
Celera1240,267,755 - 40,267,935RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,490,740 - 38,490,921UniSTS
GDB:384884  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,463,836 - 41,464,009UniSTSGRCh37
Build 361239,750,103 - 39,750,276RGDNCBI36
Celera1240,267,148 - 40,267,321RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,490,133 - 38,490,306UniSTS
G64645  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,460,189 - 41,460,441UniSTSGRCh37
Build 361239,746,456 - 39,746,708RGDNCBI36
Celera1240,263,498 - 40,263,750RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,486,484 - 38,486,736UniSTS
G64355  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,452,623 - 41,452,864UniSTSGRCh37
Build 361239,738,890 - 39,739,131RGDNCBI36
Celera1240,255,929 - 40,256,170RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,478,918 - 38,479,159UniSTS
G64356  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,236,726 - 41,236,904UniSTSGRCh37
Build 361239,522,993 - 39,523,171RGDNCBI36
Celera1240,039,974 - 40,040,152RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,262,958 - 38,263,136UniSTS
G64646  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,116,613 - 41,116,893UniSTSGRCh37
Build 361239,402,880 - 39,403,160RGDNCBI36
Celera1239,919,963 - 39,920,243RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,143,292 - 38,143,572UniSTS
G64795  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,297,048 - 41,297,322UniSTSGRCh37
Build 361239,583,315 - 39,583,589RGDNCBI36
Celera1240,100,367 - 40,100,641RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,323,327 - 38,323,601UniSTS
G64794  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,460,288 - 41,460,487UniSTSGRCh37
Build 361239,746,555 - 39,746,754RGDNCBI36
Celera1240,263,597 - 40,263,796RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,486,583 - 38,486,782UniSTS
SHGC-105239  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,324,615 - 41,324,954UniSTSGRCh37
Build 361239,610,882 - 39,611,221RGDNCBI36
Celera1240,127,941 - 40,128,280RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,350,841 - 38,351,180UniSTS
TNG Radiation Hybrid Map1218109.0UniSTS
WI-15428  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,465,577 - 41,465,677UniSTSGRCh37
Build 361239,751,844 - 39,751,944RGDNCBI36
Celera1240,268,889 - 40,268,989RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,491,875 - 38,491,975UniSTS
GeneMap99-GB4 RH Map12217.0UniSTS
Whitehead-RH Map12263.3UniSTS
AFMa106vd5  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,377,247 - 41,377,421UniSTSGRCh37
Build 361239,663,514 - 39,663,688RGDNCBI36
Celera1240,180,560 - 40,180,734RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,403,787 - 38,403,961UniSTS
Whitehead-RH Map12261.1UniSTS
Whitehead-YAC Contig Map12 UniSTS
RH66339  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,205,338 - 41,205,526UniSTSGRCh37
Build 361239,491,605 - 39,491,793RGDNCBI36
Celera1240,008,580 - 40,008,768RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,231,613 - 38,231,801UniSTS
GeneMap99-GB4 RH Map12217.0UniSTS
STS-H29473  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,365,899 - 41,366,041UniSTSGRCh37
Build 361239,652,166 - 39,652,308RGDNCBI36
Celera1240,169,232 - 40,169,374RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,392,115 - 38,392,257UniSTS
GeneMap99-GB4 RH Map12217.0UniSTS
RH15725  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,366,012 - 41,366,189UniSTSGRCh37
Build 361239,652,279 - 39,652,456RGDNCBI36
Celera1240,169,345 - 40,169,522RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,392,228 - 38,392,405UniSTS
GeneMap99-GB4 RH Map12217.0UniSTS
WI-21903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,381,814 - 41,382,063UniSTSGRCh37
Build 361239,668,081 - 39,668,330RGDNCBI36
Celera1240,185,102 - 40,185,351RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,408,254 - 38,408,503UniSTS
GeneMap99-GB4 RH Map12217.0UniSTS
Whitehead-RH Map12263.3UniSTS
G10362  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,261,630 - 41,261,776UniSTSGRCh37
Build 361239,547,897 - 39,548,043RGDNCBI36
Celera1240,064,949 - 40,065,095RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,287,903 - 38,288,049UniSTS
WI-19166  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,463,842 - 41,464,017UniSTSGRCh37
Build 361239,750,109 - 39,750,284RGDNCBI36
Celera1240,267,154 - 40,267,329RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,490,139 - 38,490,314UniSTS
GeneMap99-GB4 RH Map12217.06UniSTS
Whitehead-RH Map12310.8UniSTS
NCBI RH Map12362.9UniSTS
WI-7876  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371241,463,842 - 41,464,093UniSTSGRCh37
Build 361239,750,109 - 39,750,360RGDNCBI36
Celera1240,267,154 - 40,267,405RGD
Cytogenetic Map12q11-q12UniSTS
HuRef1238,490,139 - 38,490,390UniSTS
Whitehead-YAC Contig Map12 UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 762 349 239 5 22 6 925 662 3260 66 464 109 4 9 683
Low 1287 995 961 207 463 69 2467 337 444 198 886 1254 142 984 1291 2
Below cutoff 281 1499 422 332 778 310 952 1170 11 82 52 190 24 211 812

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001256064 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_175038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268651 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011537927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018826 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018827 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448843 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371129 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371130 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371131 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371132 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371133 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371135 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002957291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC015540 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC016144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC024900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC074030 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC129108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI473107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK289698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM717031 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BY799936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA215712 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ442053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ442054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U07820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z21488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000347616   ⟹   ENSP00000325660
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,908,354 - 41,072,406 (+)Ensembl
RefSeq Acc Id: ENST00000348761   ⟹   ENSP00000261160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,908,359 - 41,070,265 (+)Ensembl
RefSeq Acc Id: ENST00000547702   ⟹   ENSP00000448004
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,692,442 - 40,972,435 (+)Ensembl
RefSeq Acc Id: ENST00000547849   ⟹   ENSP00000448653
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,828,184 - 40,972,717 (+)Ensembl
RefSeq Acc Id: ENST00000548005   ⟹   ENSP00000447862
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,742,351 - 40,922,283 (+)Ensembl
RefSeq Acc Id: ENST00000548481   ⟹   ENSP00000449517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,029,114 - 41,070,241 (+)Ensembl
RefSeq Acc Id: ENST00000550305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1241,005,039 - 41,027,918 (+)Ensembl
RefSeq Acc Id: ENST00000551295   ⟹   ENSP00000447006
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,692,439 - 41,072,415 (+)Ensembl
RefSeq Acc Id: ENST00000551424   ⟹   ENSP00000450412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,692,462 - 40,918,732 (+)Ensembl
RefSeq Acc Id: ENST00000552248   ⟹   ENSP00000447860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,742,353 - 40,922,298 (+)Ensembl
RefSeq Acc Id: ENST00000552913   ⟹   ENSP00000449706
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1240,828,184 - 40,918,762 (+)Ensembl
RefSeq Acc Id: NM_001256063   ⟹   NP_001242992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,692,439 - 40,972,717 (+)NCBI
HuRef1238,112,937 - 38,492,512 (+)NCBI
CHM1_11241,051,536 - 41,331,495 (+)NCBI
T2T-CHM13v2.01240,652,132 - 40,931,998 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001256064   ⟹   NP_001242993
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,828,184 - 40,972,717 (+)NCBI
GRCh371241,086,244 - 41,466,214 (+)NCBI
HuRef1238,112,937 - 38,492,512 (+)NCBI
CHM1_11241,186,369 - 41,331,495 (+)NCBI
T2T-CHM13v2.01240,787,447 - 40,931,998 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001843   ⟹   NP_001834
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,692,439 - 41,072,415 (+)NCBI
GRCh371241,086,244 - 41,466,214 (+)NCBI
Build 361239,372,625 - 39,750,361 (+)NCBI Archive
HuRef1238,112,937 - 38,492,512 (+)NCBI
CHM1_11241,051,536 - 41,431,091 (+)NCBI
T2T-CHM13v2.01240,652,132 - 41,031,590 (+)NCBI
Sequence:
RefSeq Acc Id: NM_175038   ⟹   NP_778203
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,908,357 - 41,072,412 (+)NCBI
GRCh371241,086,244 - 41,466,214 (+)NCBI
Build 361239,372,625 - 39,750,361 (+)NCBI Archive
HuRef1238,112,937 - 38,492,512 (+)NCBI
CHM1_11241,266,782 - 41,431,091 (+)NCBI
T2T-CHM13v2.01240,867,627 - 41,031,587 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268651   ⟹   XP_005268708
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,828,184 - 41,072,415 (+)NCBI
GRCh371241,086,244 - 41,466,214 (+)NCBI
Sequence:
RefSeq Acc Id: XM_006719241   ⟹   XP_006719304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,892,817 - 41,072,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537926   ⟹   XP_011536228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,692,439 - 41,072,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011537927   ⟹   XP_011536229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,892,817 - 41,072,415 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018826   ⟹   XP_016874315
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,892,817 - 40,972,717 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017018827   ⟹   XP_016874316
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,892,817 - 40,972,717 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448843   ⟹   XP_024304611
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,692,439 - 40,972,717 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054371129   ⟹   XP_054227104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,852,069 - 41,031,590 (+)NCBI
RefSeq Acc Id: XM_054371130   ⟹   XP_054227105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,652,132 - 41,031,590 (+)NCBI
RefSeq Acc Id: XM_054371131   ⟹   XP_054227106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,787,447 - 41,031,590 (+)NCBI
RefSeq Acc Id: XM_054371132   ⟹   XP_054227107
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,852,069 - 41,031,590 (+)NCBI
RefSeq Acc Id: XM_054371133   ⟹   XP_054227108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,652,132 - 40,931,998 (+)NCBI
RefSeq Acc Id: XM_054371134   ⟹   XP_054227109
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,852,069 - 40,931,998 (+)NCBI
RefSeq Acc Id: XM_054371135   ⟹   XP_054227110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01240,852,069 - 40,931,998 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001242992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001242993 (Get FASTA)   NCBI Sequence Viewer  
  NP_001834 (Get FASTA)   NCBI Sequence Viewer  
  NP_778203 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268708 (Get FASTA)   NCBI Sequence Viewer  
  XP_006719304 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536228 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536229 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874315 (Get FASTA)   NCBI Sequence Viewer  
  XP_016874316 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304611 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227104 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227105 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227106 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227107 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227108 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227109 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227110 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA67920 (Get FASTA)   NCBI Sequence Viewer  
  AAA67921 (Get FASTA)   NCBI Sequence Viewer  
  AAH36569 (Get FASTA)   NCBI Sequence Viewer  
  BAF82233 (Get FASTA)   NCBI Sequence Viewer  
  BAF82387 (Get FASTA)   NCBI Sequence Viewer  
  CAA79696 (Get FASTA)   NCBI Sequence Viewer  
  EAW57822 (Get FASTA)   NCBI Sequence Viewer  
  EAW57823 (Get FASTA)   NCBI Sequence Viewer  
  EAW57824 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000261160
  ENSP00000261160.3
  ENSP00000325660
  ENSP00000325660.3
  ENSP00000447006
  ENSP00000447006.1
  ENSP00000447860.1
  ENSP00000447862.1
  ENSP00000448004
  ENSP00000448004.1
  ENSP00000448653
  ENSP00000448653.1
  ENSP00000449517.1
  ENSP00000449706.1
  ENSP00000450412.1
GenBank Protein Q12860 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001834   ⟸   NM_001843
- Peptide Label: isoform 1 precursor
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_778203   ⟸   NM_175038
- Peptide Label: isoform 2 precursor
- UniProtKB: Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242992   ⟸   NM_001256063
- Peptide Label: isoform 3 precursor
- UniProtKB: Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001242993   ⟸   NM_001256064
- Peptide Label: isoform 3 precursor
- UniProtKB: Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005268708   ⟸   XM_005268651
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719304   ⟸   XM_006719241
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536228   ⟸   XM_011537926
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011536229   ⟸   XM_011537927
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874316   ⟸   XM_017018827
- Peptide Label: isoform X2
- UniProtKB: Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874315   ⟸   XM_017018826
- Peptide Label: isoform X2
- UniProtKB: Q12860 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_024304611   ⟸   XM_024448843
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000325660   ⟸   ENST00000347616
RefSeq Acc Id: ENSP00000261160   ⟸   ENST00000348761
RefSeq Acc Id: ENSP00000448653   ⟸   ENST00000547849
RefSeq Acc Id: ENSP00000448004   ⟸   ENST00000547702
RefSeq Acc Id: ENSP00000447862   ⟸   ENST00000548005
RefSeq Acc Id: ENSP00000449517   ⟸   ENST00000548481
RefSeq Acc Id: ENSP00000450412   ⟸   ENST00000551424
RefSeq Acc Id: ENSP00000447006   ⟸   ENST00000551295
RefSeq Acc Id: ENSP00000447860   ⟸   ENST00000552248
RefSeq Acc Id: ENSP00000449706   ⟸   ENST00000552913
RefSeq Acc Id: XP_054227105   ⟸   XM_054371130
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227108   ⟸   XM_054371133
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227106   ⟸   XM_054371131
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227107   ⟸   XM_054371132
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227104   ⟸   XM_054371129
- Peptide Label: isoform X1
- UniProtKB: Q7M4P0 (UniProtKB/Swiss-Prot),   Q14030 (UniProtKB/Swiss-Prot),   Q12861 (UniProtKB/Swiss-Prot),   Q12860 (UniProtKB/Swiss-Prot),   A8K0Y3 (UniProtKB/Swiss-Prot),   A8K0H9 (UniProtKB/Swiss-Prot),   Q8N466 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054227110   ⟸   XM_054371135
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054227109   ⟸   XM_054371134
- Peptide Label: isoform X2
Protein Domains
Fibronectin type-III   Ig-like C2-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q12860-F1-model_v2 AlphaFold Q12860 1-1018 view protein structure

Promoters
RGD ID:7223643
Promoter ID:EPDNEW_H17565
Type:initiation region
Name:CNTN1_1
Description:contactin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17566  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,692,439 - 40,692,499EPDNEW
RGD ID:7223639
Promoter ID:EPDNEW_H17566
Type:initiation region
Name:CNTN1_2
Description:contactin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17565  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381240,828,184 - 40,828,244EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2171 AgrOrtholog
COSMIC CNTN1 COSMIC
Ensembl Genes ENSG00000018236 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000347616 ENTREZGENE
  ENST00000347616.5 UniProtKB/Swiss-Prot
  ENST00000348761 ENTREZGENE
  ENST00000348761.2 UniProtKB/Swiss-Prot
  ENST00000547702 ENTREZGENE
  ENST00000547702.5 UniProtKB/Swiss-Prot
  ENST00000547849 ENTREZGENE
  ENST00000547849.6 UniProtKB/Swiss-Prot
  ENST00000548005.5 UniProtKB/TrEMBL
  ENST00000548481.1 UniProtKB/TrEMBL
  ENST00000551295 ENTREZGENE
  ENST00000551295.7 UniProtKB/Swiss-Prot
  ENST00000551424.5 UniProtKB/TrEMBL
  ENST00000552248.5 UniProtKB/TrEMBL
  ENST00000552913.5 UniProtKB/TrEMBL
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000018236 GTEx
HGNC ID HGNC:2171 ENTREZGENE
Human Proteome Map CNTN1 Human Proteome Map
InterPro Contactin-1 UniProtKB/Swiss-Prot
  Contactin-1_2_Ig1 UniProtKB/Swiss-Prot
  Contactin-1_Ig3 UniProtKB/Swiss-Prot
  Contactin-1_Ig6 UniProtKB/Swiss-Prot
  FN3_dom UniProtKB/Swiss-Prot
  FN3_sf UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot
  Ig-like_dom_sf UniProtKB/Swiss-Prot
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_I-set UniProtKB/Swiss-Prot
  Ig_sub UniProtKB/Swiss-Prot
  Ig_sub2 UniProtKB/Swiss-Prot
  Immunoglobulin UniProtKB/Swiss-Prot
KEGG Report hsa:1272 UniProtKB/Swiss-Prot
NCBI Gene 1272 ENTREZGENE
OMIM 600016 OMIM
PANTHER PROTEIN SIDEKICK UniProtKB/Swiss-Prot
  PTHR44170:SF10 UniProtKB/Swiss-Prot
Pfam fn3 UniProtKB/Swiss-Prot
  I-set UniProtKB/Swiss-Prot
  Ig_3 UniProtKB/Swiss-Prot
  PF00047 UniProtKB/Swiss-Prot
PharmGKB PA26685 PharmGKB
PROSITE FN3 UniProtKB/Swiss-Prot
  IG_LIKE UniProtKB/Swiss-Prot
SMART FN3 UniProtKB/Swiss-Prot
  IGc2 UniProtKB/Swiss-Prot
  SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot
  SSF49265 UniProtKB/Swiss-Prot
UniProt A8K0H9 ENTREZGENE
  A8K0Y3 ENTREZGENE
  CNTN1_HUMAN UniProtKB/Swiss-Prot
  F8VQW3_HUMAN UniProtKB/TrEMBL
  F8VUI8_HUMAN UniProtKB/TrEMBL
  F8VUI9_HUMAN UniProtKB/TrEMBL
  F8VX96_HUMAN UniProtKB/TrEMBL
  H0YIJ1_HUMAN UniProtKB/TrEMBL
  Q12860 ENTREZGENE
  Q12861 ENTREZGENE
  Q14030 ENTREZGENE
  Q7M4P0 ENTREZGENE
  Q8N466 ENTREZGENE
UniProt Secondary A8K0H9 UniProtKB/Swiss-Prot
  A8K0Y3 UniProtKB/Swiss-Prot
  Q12861 UniProtKB/Swiss-Prot
  Q14030 UniProtKB/Swiss-Prot
  Q7M4P0 UniProtKB/Swiss-Prot
  Q8N466 UniProtKB/Swiss-Prot