DTNA (dystrobrevin alpha) - Rat Genome Database

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Gene: DTNA (dystrobrevin alpha) Homo sapiens
Analyze
Symbol: DTNA
Name: dystrobrevin alpha
RGD ID: 1343196
HGNC Page HGNC:3057
Description: Predicted to enable phosphatase binding activity. Predicted to be involved in synaptic signaling. Located in cell junction; intermediate filament cytoskeleton; and nucleoplasm. Part of protein-containing complex. Implicated in cardiomyopathy and left ventricular noncompaction.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha-dystrobrevin; D18S892E; DRP3; DTN; DTN-A; dystrobrevin, alpha; dystrophin-related protein 3; FLJ96209; LVNC1; MMCKR2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381834,493,312 - 34,891,844 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1834,493,291 - 34,891,844 (+)EnsemblGRCh38hg38GRCh38
GRCh371832,073,276 - 32,471,808 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361830,327,279 - 30,725,364 (+)NCBINCBI36Build 36hg18NCBI36
Build 341830,652,329 - 30,701,367NCBI
Celera1828,881,475 - 29,280,096 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1828,932,326 - 29,330,662 (+)NCBIHuRef
CHM1_11832,000,280 - 32,398,881 (+)NCBICHM1_1
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-butan-2-yl-4-[4-[4-[4-[[2-(2,4-dichlorophenyl)-2-(1,2,4-triazol-1-ylmethyl)-1,3-dioxolan-4-yl]methoxy]phenyl]-1-piperazinyl]phenyl]-1,2,4-triazol-3-one  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-methylcholanthrene  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aristolochic acid A  (EXP)
arsenite(3-)  (ISO)
atrazine  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
Benzo[k]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
cantharidin  (ISO)
chlordecone  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
cisplatin  (EXP,ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
ethanol  (EXP,ISO)
folic acid  (ISO)
FR900359  (EXP)
fulvestrant  (EXP)
itraconazole  (ISO)
L-methionine  (ISO)
lead(0)  (EXP)
malathion  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
methapyrilene  (EXP)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
nickel atom  (EXP)
PCB138  (ISO)
phenylmercury acetate  (EXP)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
potassium chromate  (EXP)
resveratrol  (EXP)
SB 431542  (EXP)
sodium arsenate  (ISO)
Soman  (ISO)
temozolomide  (EXP)
testosterone  (EXP)
thapsigargin  (EXP)
thiram  (EXP)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triptonide  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Ichida F, etal., Circulation. 2001 Mar 6;103(9):1256-63.
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7844150   PMID:8081380   PMID:8576247   PMID:8631824   PMID:8845841   PMID:9119373   PMID:9146999   PMID:9215691   PMID:9356463   PMID:9419360   PMID:9533777   PMID:9701558  
PMID:10545507   PMID:10735273   PMID:10747910   PMID:10767327   PMID:10767429   PMID:11053293   PMID:11053421   PMID:11069112   PMID:11316798   PMID:11353857   PMID:12034776   PMID:12206805  
PMID:12416719   PMID:12475945   PMID:12477932   PMID:12604589   PMID:12899872   PMID:14623885   PMID:14702039   PMID:15024025   PMID:15834686   PMID:15835271   PMID:16344560   PMID:16448387  
PMID:16713569   PMID:17207965   PMID:18299519   PMID:18468998   PMID:19460752   PMID:19615732   PMID:19931615   PMID:19961569   PMID:20111909   PMID:20379614   PMID:21115837   PMID:21873635  
PMID:22507200   PMID:22570500   PMID:22939629   PMID:23414517   PMID:24014171   PMID:24981860   PMID:25305078   PMID:25814554   PMID:25959029   PMID:26186194   PMID:27432908   PMID:27880917  
PMID:28514442   PMID:28611215   PMID:28675297   PMID:29229926   PMID:29508483   PMID:29509190   PMID:30561431   PMID:30639242   PMID:31091453   PMID:31678930   PMID:31732153   PMID:31871319  
PMID:32203420   PMID:32619495   PMID:32707033   PMID:32737801   PMID:33957083   PMID:33961781   PMID:34079125   PMID:35140242   PMID:35148685   PMID:35271311   PMID:35384245   PMID:35575683  
PMID:36215168   PMID:36604567   PMID:36736316   PMID:36799992   PMID:36976175   PMID:38270169   PMID:38569033   PMID:38580884   PMID:39231216  


Genomics

Comparative Map Data
DTNA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381834,493,312 - 34,891,844 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1834,493,291 - 34,891,844 (+)EnsemblGRCh38hg38GRCh38
GRCh371832,073,276 - 32,471,808 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361830,327,279 - 30,725,364 (+)NCBINCBI36Build 36hg18NCBI36
Build 341830,652,329 - 30,701,367NCBI
Celera1828,881,475 - 29,280,096 (+)NCBICelera
Cytogenetic Map18q12.1NCBI
HuRef1828,932,326 - 29,330,662 (+)NCBIHuRef
CHM1_11832,000,280 - 32,398,881 (+)NCBICHM1_1
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBIT2T-CHM13v2.0
Dtna
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391823,443,063 - 23,792,776 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1823,548,192 - 23,792,772 (+)EnsemblGRCm39 Ensembl
GRCm381823,310,006 - 23,659,719 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1823,415,135 - 23,659,715 (+)EnsemblGRCm38mm10GRCm38
MGSCv371823,573,916 - 23,818,215 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361823,558,452 - 23,802,724 (+)NCBIMGSCv36mm8
Celera1823,912,218 - 24,156,253 (+)NCBICelera
Cytogenetic Map18A2NCBI
cM Map1812.08NCBI
Dtna
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81814,862,801 - 15,218,993 (+)NCBIGRCr8
mRatBN7.21814,687,193 - 14,944,232 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1814,587,852 - 14,944,261 (+)EnsemblmRatBN7.2 Ensembl
Rnor_6.01814,544,725 - 14,671,514 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1814,471,213 - 14,657,332 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01814,340,984 - 14,465,694 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41815,024,302 - 15,571,410 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1814,647,976 - 14,904,179 (+)NCBICelera
Cytogenetic Map18p12NCBI
Dtna
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540221,315,889 - 21,673,044 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540221,414,122 - 21,676,389 (+)NCBIChiLan1.0ChiLan1.0
DTNA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21751,876,025 - 52,286,780 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11837,568,604 - 37,979,370 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01827,706,576 - 28,116,328 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11831,297,078 - 31,705,832 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1831,524,255 - 31,705,386 (+)Ensemblpanpan1.1panPan2
DTNA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1755,068,555 - 55,420,377 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl755,069,462 - 55,420,259 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha754,502,369 - 54,853,974 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0755,037,996 - 55,388,952 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl755,038,315 - 55,388,963 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1754,725,308 - 55,076,745 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0754,746,134 - 55,097,281 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0755,042,274 - 55,393,784 (-)NCBIUU_Cfam_GSD_1.0
Dtna
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494450,778,360 - 51,092,758 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493651710,105,760 - 10,420,233 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493651710,105,767 - 10,357,672 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DTNA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6118,333,733 - 118,753,512 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16118,333,069 - 118,753,516 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26110,934,485 - 111,005,318 (+)NCBISscrofa10.2Sscrofa10.2susScr3
DTNA
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11845,855,444 - 46,253,842 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1845,856,403 - 45,991,102 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605020,360,871 - 20,753,258 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dtna
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247798,948,499 - 9,329,550 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247798,948,578 - 9,329,459 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DTNA
612 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001386795.1(DTNA):c.331C>T (p.Leu111Phe) single nucleotide variant not provided [RCV000519430] Chr18:34794219 [GRCh38]
Chr18:32374183 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1903+8G>A single nucleotide variant Cardiomyopathy [RCV000029687]|Left ventricular noncompaction 1 [RCV000605938]|not specified [RCV000039676] Chr18:34875406 [GRCh38]
Chr18:32455370 [GRCh37]
Chr18:18q12.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.2162+14G>A single nucleotide variant Cardiomyopathy [RCV000029688]|Left ventricular noncompaction 1 [RCV000615782]|not provided [RCV004709200]|not specified [RCV000039680] Chr18:34879733 [GRCh38]
Chr18:32459697 [GRCh37]
Chr18:18q12.1		 benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) single nucleotide variant Cardiomyopathy [RCV000029689]|Left ventricular noncompaction 1 [RCV000233465]|not provided [RCV001310383]|not specified [RCV000039681] Chr18:34794098 [GRCh38]
Chr18:32374062 [GRCh37]
Chr18:18q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV000008804] Chr18:34794250 [GRCh38]
Chr18:32374214 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
NM_001386795.1(DTNA):c.1082G>A (p.Arg361Lys) single nucleotide variant Left ventricular noncompaction 1 [RCV000546105] Chr18:34827673 [GRCh38]
Chr18:32407637 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1603G>T (p.Ala535Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV000546481] Chr18:34858355 [GRCh38]
Chr18:32438319 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.*2690T>C single nucleotide variant not specified [RCV000519115] Chr18:34890424 [GRCh38]
Chr18:32470388 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.877-6T>C single nucleotide variant Left ventricular noncompaction 1 [RCV000547398] Chr18:34820785 [GRCh38]
Chr18:32400749 [GRCh37]
Chr18:18q12.1		 likely benign
NM_032975.3(DTNA):c.-127+44316A>T single nucleotide variant Lung cancer [RCV000100779] Chr18:34537830 [GRCh38]
Chr18:32117794 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_032975.3(DTNA):c.-127+87514G>T single nucleotide variant Lung cancer [RCV000100780] Chr18:34581028 [GRCh38]
Chr18:32160992 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_032975.3(DTNA):c.-126-5383C>T single nucleotide variant Lung cancer [RCV000100781] Chr18:34674085 [GRCh38]
Chr18:32254049 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1452-3116A>T single nucleotide variant Lung cancer [RCV000100783] Chr18:34855169 [GRCh38]
Chr18:32435133 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1086-321A>C single nucleotide variant not provided [RCV001719737]|not specified [RCV000036931] Chr18:34829079 [GRCh38]
Chr18:32409043 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) single nucleotide variant DTNA-related disorder [RCV003944929]|Left ventricular noncompaction 1 [RCV001001740]|not provided [RCV000171931]|not specified [RCV000039666] Chr18:34820914 [GRCh38]
Chr18:32400878 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.1438C>A (p.Pro480Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV000229332]|Primary dilated cardiomyopathy [RCV000852747]|not provided [RCV004709206]|not specified [RCV000039667] Chr18:34851834 [GRCh38]
Chr18:32431798 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1480G>A (p.Asp494Asn) single nucleotide variant DTNA-related disorder [RCV003934944]|Left ventricular noncompaction 1 [RCV000547018]|not provided [RCV000171933]|not specified [RCV000039668] Chr18:34851876 [GRCh38]
Chr18:32431840 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) single nucleotide variant Left ventricular noncompaction 1 [RCV000559423]|not provided [RCV001703891]|not specified [RCV000039669] Chr18:34851881 [GRCh38]
Chr18:32431845 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.1491G>A (p.Lys497=) single nucleotide variant Left ventricular noncompaction 1 [RCV000919401]|not specified [RCV000039670] Chr18:34851887 [GRCh38]
Chr18:32431851 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.148+7A>G single nucleotide variant not specified [RCV000039671] Chr18:34766048 [GRCh38]
Chr18:32346012 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+14G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002054769]|not provided [RCV004709207]|not specified [RCV000039672] Chr18:34864076 [GRCh38]
Chr18:32444040 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1744-10G>T single nucleotide variant DTNA-related disorder [RCV003904945]|Left ventricular noncompaction 1 [RCV000615677]|not provided [RCV000588935]|not specified [RCV000039673] Chr18:34875229 [GRCh38]
Chr18:32455193 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=) single nucleotide variant Left ventricular noncompaction 1 [RCV001286362]|not provided [RCV004709208]|not specified [RCV000039674] Chr18:34875316 [GRCh38]
Chr18:32455280 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1847C>T (p.Thr616Met) single nucleotide variant Left ventricular noncompaction 1 [RCV001852828]|not specified [RCV000039675] Chr18:34875342 [GRCh38]
Chr18:32455306 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1993+7T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002054770]|not specified [RCV000039677] Chr18:34877815 [GRCh38]
Chr18:32457779 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.17G>C (p.Gly6Ala) single nucleotide variant not specified [RCV000039678] Chr18:34755993 [GRCh38]
Chr18:32335957 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2108G>A (p.Arg703Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV001852829]|not provided [RCV000171940]|not specified [RCV000039679] Chr18:34879665 [GRCh38]
Chr18:32459629 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.231C>T (p.Asn77=) single nucleotide variant Left ventricular noncompaction 1 [RCV001081999]|not provided [RCV000587135]|not specified [RCV000039682] Chr18:34794119 [GRCh38]
Chr18:32374083 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) single nucleotide variant DTNA-related disorder [RCV003964869]|Left ventricular noncompaction 1 [RCV000227300]|not provided [RCV001528307]|not specified [RCV000039683] Chr18:34794131 [GRCh38]
Chr18:32374095 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.51G>A (p.Gln17=) single nucleotide variant Left ventricular noncompaction 1 [RCV000559163]|not provided [RCV001703892]|not specified [RCV000039684] Chr18:34756027 [GRCh38]
Chr18:32335991 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.537G>T (p.Thr179=) single nucleotide variant Left ventricular noncompaction 1 [RCV001083106]|not provided [RCV004709209]|not specified [RCV000039685] Chr18:34812047 [GRCh38]
Chr18:32392011 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.604-14G>T single nucleotide variant Left ventricular noncompaction 1 [RCV000613955]|not provided [RCV001682737]|not specified [RCV000039686] Chr18:34815895 [GRCh38]
Chr18:32395859 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.933C>T (p.Ser311=) single nucleotide variant Left ventricular noncompaction 1 [RCV001082866]|not provided [RCV000589462]|not specified [RCV000039687] Chr18:34820847 [GRCh38]
Chr18:32400811 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.999C>T (p.Ile333=) single nucleotide variant Left ventricular noncompaction 1 [RCV000456869]|not specified [RCV000039688] Chr18:34820913 [GRCh38]
Chr18:32400877 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1176-8T>C single nucleotide variant DTNA-related disorder [RCV003914959]|Left ventricular noncompaction 1 [RCV000229936]|not provided [RCV001815172]|not specified [RCV000039689] Chr18:34838086 [GRCh38]
Chr18:32418050 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) single nucleotide variant DTNA-related disorder [RCV003904946]|Left ventricular noncompaction 1 [RCV001082477]|not provided [RCV000171932]|not specified [RCV000039690] Chr18:34838788 [GRCh38]
Chr18:32418752 [GRCh37]
Chr18:18q12.1		 likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.1346+5G>C single nucleotide variant Left ventricular noncompaction 1 [RCV000471255]|not specified [RCV000039691] Chr18:34838842 [GRCh38]
Chr18:32418806 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q12.1-12.3(chr18:31655749-42564094)x3 copy number gain See cases [RCV000050773] Chr18:31655749..42564094 [GRCh38]
Chr18:29235712..40144059 [GRCh37]
Chr18:27489710..38398057 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:29444510-40403652)x1 copy number loss See cases [RCV000051090] Chr18:29444510..40403652 [GRCh38]
Chr18:27024475..37983616 [GRCh37]
Chr18:25278473..36237614 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000051048] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1(chr18:34297872-34622367)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052077]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052077]|See cases [RCV000052077] Chr18:34297872..34622367 [GRCh38]
Chr18:31877836..32202331 [GRCh37]
Chr18:30131834..30456329 [NCBI36]
Chr18:18q12.1		 uncertain significance
GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3 copy number gain See cases [RCV000052543] Chr18:20960320..80234429 [GRCh38]
Chr18:18540281..77992312 [GRCh37]
Chr18:16794279..76093303 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3 copy number gain See cases [RCV000052501] Chr18:53345..80209986 [GRCh38]
Chr18:53345..77967869 [GRCh37]
Chr18:43345..76068860 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3 copy number gain See cases [RCV000052549] Chr18:20989762..80209986 [GRCh38]
Chr18:18569723..77967869 [GRCh37]
Chr18:16823721..76068860 [NCBI36]
Chr18:18q11.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148763-80252290)x3 copy number gain See cases [RCV000052507] Chr18:148763..80252290 [GRCh38]
Chr18:148763..78010173 [GRCh37]
Chr18:138763..76111164 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-22.1(chr18:29249202-65448117)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052563]|See cases [RCV000052563] Chr18:29249202..65448117 [GRCh38]
Chr18:26829167..63115353 [GRCh37]
Chr18:25083165..61266333 [NCBI36]
Chr18:18q12.1-22.1		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3 copy number gain See cases [RCV000052514] Chr18:148963..80244381 [GRCh38]
Chr18:148963..78002264 [GRCh37]
Chr18:138963..76103255 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:32111530-44070219)x1 copy number loss See cases [RCV000053829] Chr18:32111530..44070219 [GRCh38]
Chr18:29691493..41650184 [GRCh37]
Chr18:27945491..39904182 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
GRCh38/hg38 18q12.1-12.3(chr18:34047118-41394354)x1 copy number loss See cases [RCV000053830] Chr18:34047118..41394354 [GRCh38]
Chr18:31627082..38974318 [GRCh37]
Chr18:29881080..37228316 [NCBI36]
Chr18:18q12.1-12.3		 pathogenic
NM_001390.4(DTNA):c.1779C>T (p.Ser593=) single nucleotide variant Malignant melanoma [RCV000071820] Chr18:34875355 [GRCh38]
Chr18:32455319 [GRCh37]
Chr18:30709317 [NCBI36]
Chr18:18q12.1		 not provided
NM_001386795.1(DTNA):c.-41G>C single nucleotide variant not specified [RCV000124835] Chr18:34710406 [GRCh38]
Chr18:32290370 [GRCh37]
Chr18:18q12.1		 benign
NM_032978.6:c.0-25A>G single nucleotide variant not provided [RCV000124836] Chr18:18q12.1 benign
NM_001386795.1(DTNA):c.1532+18T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002055526]|not provided [RCV004710532]|not specified [RCV000124844] Chr18:34851946 [GRCh38]
Chr18:32431910 [GRCh37]
Chr18:18q12.1		 benign
NM_032978.6:c.+9155G>A single nucleotide variant not provided [RCV000124846] Chr18:18q12.1 benign
NM_001386795.1(DTNA):c.1903+17T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002055527]|not provided [RCV004709315]|not specified [RCV000124847] Chr18:34875415 [GRCh38]
Chr18:32455379 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1822+713T>C single nucleotide variant not provided [RCV000124848] Chr18:34876111 [GRCh38]
Chr18:32456075 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1912+221G>A single nucleotide variant not provided [RCV000124849] Chr18:34878029 [GRCh38]
Chr18:32457993 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.*2593G>A single nucleotide variant not provided [RCV004709316]|not specified [RCV000172751] Chr18:34890327 [GRCh38]
Chr18:32470291 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.*234G>A single nucleotide variant not provided [RCV001765101] Chr18:34887968 [GRCh38]
Chr18:32467932 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2224G>T (p.Val742Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV001849917]|Meniere disease [RCV000149520]|not provided [RCV001508826] Chr18:34882130 [GRCh38]
Chr18:32462094 [GRCh37]
Chr18:18q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.-1-25A>G single nucleotide variant not provided [RCV004709346]|not specified [RCV000124836] Chr18:34755951 [GRCh38]
Chr18:32335915 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.112G>A (p.Ala38Thr) single nucleotide variant not provided [RCV000171926] Chr18:34766005 [GRCh38]
Chr18:32345969 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.295A>G (p.Thr99Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV001213535]|not provided [RCV000171927] Chr18:34794183 [GRCh38]
Chr18:32374147 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.479G>A (p.Gly160Glu) single nucleotide variant not provided [RCV000171928] Chr18:34811989 [GRCh38]
Chr18:32391953 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.904G>A (p.Ala302Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV002517658]|not provided [RCV000171929]|not specified [RCV003330529] Chr18:34820818 [GRCh38]
Chr18:32400782 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.955A>G (p.Met319Val) single nucleotide variant DTNA-related disorder [RCV004751325]|Left ventricular noncompaction 1 [RCV001083773]|not provided [RCV000171930]|not specified [RCV000606031] Chr18:34820869 [GRCh38]
Chr18:32400833 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) single nucleotide variant Left ventricular noncompaction 1 [RCV000808536]|not provided [RCV000171934] Chr18:34863971 [GRCh38]
Chr18:32443935 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1695C>T (p.Ser565=) single nucleotide variant Left ventricular noncompaction 1 [RCV002054031]|not provided [RCV000171935] Chr18:34864014 [GRCh38]
Chr18:32443978 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.1838C>T (p.Pro613Leu) single nucleotide variant Hypertrophic cardiomyopathy [RCV000852748]|Left ventricular noncompaction 1 [RCV002516565]|not provided [RCV000171937]|not specified [RCV001532985] Chr18:34875333 [GRCh38]
Chr18:32455297 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1877G>A (p.Gly626Glu) single nucleotide variant not provided [RCV000171938] Chr18:34875372 [GRCh38]
Chr18:32455336 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2039G>A (p.Arg680Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV000608722]|not provided [RCV000171939]|not specified [RCV002307432] Chr18:34879596 [GRCh38]
Chr18:32459560 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3 copy number gain See cases [RCV000134110] Chr18:149089..80234391 [GRCh38]
Chr18:149089..77992274 [GRCh37]
Chr18:139089..76093265 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3 copy number gain See cases [RCV000136890] Chr18:32123105..80252149 [GRCh38]
Chr18:29703068..78010032 [GRCh37]
Chr18:27957066..76111023 [NCBI36]
Chr18:18q12.1-23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3 copy number gain See cases [RCV000138656] Chr18:118760..80254946 [GRCh38]
Chr18:118760..78012829 [GRCh37]
Chr18:108760..76113817 [NCBI36]
Chr18:18p11.32-q23		 pathogenic|conflicting data from submitters
GRCh38/hg38 18q12.1-12.2(chr18:33373798-37364748)x1 copy number loss See cases [RCV000138295] Chr18:33373798..37364748 [GRCh38]
Chr18:30953762..34944711 [GRCh37]
Chr18:29207760..33198709 [NCBI36]
Chr18:18q12.1-12.2		 likely pathogenic
GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3 copy number gain See cases [RCV000139397] Chr18:149089..80254936 [GRCh38]
Chr18:149089..78012819 [GRCh37]
Chr18:139089..76113807 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3 copy number gain See cases [RCV000142244] Chr18:136227..80256240 [GRCh38]
Chr18:136227..78014123 [GRCh37]
Chr18:126227..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18q11.1-12.3(chr18:20941324-40360620)x3 copy number gain See cases [RCV000142226] Chr18:20941324..40360620 [GRCh38]
Chr18:18521285..37940584 [GRCh37]
Chr18:16775283..36194582 [NCBI36]
Chr18:18q11.1-12.3		 pathogenic
GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3 copy number gain See cases [RCV000143057] Chr18:20962119..74691446 [GRCh38]
Chr18:18542080..72403402 [GRCh37]
Chr18:16796078..70532390 [NCBI36]
Chr18:18q11.1-22.3		 pathogenic
GRCh38/hg38 18q12.1-12.2(chr18:34454080-35755377)x3 copy number gain See cases [RCV000142876] Chr18:34454080..35755377 [GRCh38]
Chr18:32034044..33335341 [GRCh37]
Chr18:30288042..31589339 [NCBI36]
Chr18:18q12.1-12.2		 uncertain significance
GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3 copy number gain See cases [RCV000143218] Chr18:136226..80256240 [GRCh38]
Chr18:136226..78014123 [GRCh37]
Chr18:126226..76115097 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3 copy number gain See cases [RCV000148072] Chr18:148963..80252149 [GRCh38]
Chr18:148963..78010032 [GRCh37]
Chr18:138963..76111023 [NCBI36]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.1744-10G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002056103]|not specified [RCV000155793] Chr18:34875229 [GRCh38]
Chr18:32455193 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001386795.1(DTNA):c.1766G>A (p.Arg589His) single nucleotide variant Left ventricular noncompaction 1 [RCV001850136]|not provided [RCV000171936]|not specified [RCV000155794] Chr18:34875261 [GRCh38]
Chr18:32455225 [GRCh37]
Chr18:18q12.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.1971T>G (p.Ser657=) single nucleotide variant not specified [RCV000156050] Chr18:34877786 [GRCh38]
Chr18:32457750 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.953C>A (p.Pro318His) single nucleotide variant Left ventricular noncompaction 1 [RCV003335138]|not specified [RCV000156525] Chr18:34820867 [GRCh38]
Chr18:32400831 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.189G>A (p.Arg63=) single nucleotide variant not specified [RCV000156559] Chr18:34794077 [GRCh38]
Chr18:32374041 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.316C>G (p.Gln106Glu) single nucleotide variant Left ventricular noncompaction 1 [RCV000642689]|See cases [RCV001267644]|not specified [RCV000154716] Chr18:34794204 [GRCh38]
Chr18:32374168 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1770C>A (p.Ser590=) single nucleotide variant Left ventricular noncompaction 1 [RCV002516133]|not specified [RCV000155659] Chr18:34875265 [GRCh38]
Chr18:32455229 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.325A>G (p.Ser109Gly) single nucleotide variant Primary dilated cardiomyopathy [RCV000157218]|not provided [RCV004691774] Chr18:34794213 [GRCh38]
Chr18:32374177 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1330C>T (p.Arg444Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV001055805]|Primary dilated cardiomyopathy [RCV000157219]|not provided [RCV001697152]|not specified [RCV000218561] Chr18:34838821 [GRCh38]
Chr18:32418785 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1088T>C (p.Leu363Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV001001116]|not provided [RCV004705012]|not specified [RCV000183427] Chr18:34829402 [GRCh38]
Chr18:32409366 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) single nucleotide variant DTNA-related disorder [RCV003907638]|Left ventricular noncompaction 1 [RCV000553715]|not provided [RCV001704880]|not specified [RCV000183428] Chr18:34851850 [GRCh38]
Chr18:32431814 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.*2600C>T single nucleotide variant DTNA-related disorder [RCV003967458]|Left ventricular noncompaction 1 [RCV003224201]|not provided [RCV001704881] Chr18:34890334 [GRCh38]
Chr18:32470298 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.*2627G>A single nucleotide variant not provided [RCV004721287]|not specified [RCV000183431] Chr18:34890361 [GRCh38]
Chr18:32470325 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) single nucleotide variant DTNA-related disorder [RCV003416105]|Left ventricular noncompaction 1 [RCV000812349]|not provided [RCV000183432] Chr18:34815919 [GRCh38]
Chr18:32395883 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.784C>T (p.His262Tyr) single nucleotide variant Left ventricular noncompaction 1 [RCV000603659]|not provided [RCV000183433] Chr18:34818238 [GRCh38]
Chr18:32398202 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001198944.1(DTNA):c.176A>G (p.His59Arg) single nucleotide variant Cardiomyopathy [RCV000183434] Chr18:34829444 [GRCh38]
Chr18:32409408 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2101C>T (p.His701Tyr) single nucleotide variant Left ventricular noncompaction 1 [RCV003765139]|not provided [RCV000183436] Chr18:34879658 [GRCh38]
Chr18:32459622 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.*2579C>T single nucleotide variant not specified [RCV000183437] Chr18:34890313 [GRCh38]
Chr18:32470277 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.646G>T (p.Asp216Tyr) single nucleotide variant Left ventricular noncompaction 1 [RCV002517812]|not provided [RCV000183438] Chr18:34815951 [GRCh38]
Chr18:32395915 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3 copy number gain See cases [RCV000240130] Chr18:163323..78005236 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.1219G>T (p.Ala407Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV000814899]|Primary familial hypertrophic cardiomyopathy [RCV000208217]|not specified [RCV004020555] Chr18:34838137 [GRCh38]
Chr18:32418101 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1965G>A (p.Met655Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003765344]|Primary familial hypertrophic cardiomyopathy [RCV000208239]|not provided [RCV000413644] Chr18:34877780 [GRCh38]
Chr18:32457744 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2200G>A (p.Asp734Asn) single nucleotide variant DTNA-related disorder [RCV004751368]|Left ventricular noncompaction 1 [RCV002517396]|Primary dilated cardiomyopathy [RCV000208048] Chr18:34882106 [GRCh38]
Chr18:32462070 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) single nucleotide variant Left ventricular noncompaction 1 [RCV002517395]|Primary dilated cardiomyopathy [RCV000208334]|not provided [RCV001528816] Chr18:34882074 [GRCh38]
Chr18:32462038 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.435G>A (p.Met145Ile) single nucleotide variant not specified [RCV000221825] Chr18:34806291 [GRCh38]
Chr18:32386255 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) single nucleotide variant DTNA-related disorder [RCV003927900]|Left ventricular noncompaction 1 [RCV002054372]|not provided [RCV001705188]|not specified [RCV000215438] Chr18:34875370 [GRCh38]
Chr18:32455334 [GRCh37]
Chr18:18q12.1		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001386795.1(DTNA):c.603+15T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002054946]|not specified [RCV000220430] Chr18:34812128 [GRCh38]
Chr18:32392092 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.67+12T>A single nucleotide variant not specified [RCV000214136] Chr18:34756055 [GRCh38]
Chr18:32336019 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+2112G>C single nucleotide variant not specified [RCV000214874] Chr18:34866174 [GRCh38]
Chr18:32446138 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1404G>A (p.Ala468=) single nucleotide variant Left ventricular noncompaction 1 [RCV000226494]|not provided [RCV001528796] Chr18:34848353 [GRCh38]
Chr18:32428317 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-6T>C single nucleotide variant Left ventricular noncompaction 1 [RCV001470953]|not specified [RCV000417751] Chr18:34827587 [GRCh38]
Chr18:32407551 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.876+16G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002529489]|not specified [RCV000603661] Chr18:34818346 [GRCh38]
Chr18:32398310 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1146G>A (p.Leu382=) single nucleotide variant not specified [RCV000251058] Chr18:34829460 [GRCh38]
Chr18:32409424 [GRCh37]
Chr18:18q12.1		 benign
GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3 copy number gain See cases [RCV000240476] Chr18:18548019..77954165 [GRCh37]
Chr18:18q11.1-23		 pathogenic
NM_001386795.1(DTNA):c.962C>T (p.Pro321Leu) single nucleotide variant not provided [RCV003421628] Chr18:34820876 [GRCh38]
Chr18:32400840 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+4152C>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000271277] Chr18:34868214 [GRCh38]
Chr18:32448178 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+2271C>T single nucleotide variant not provided [RCV000830483] Chr18:34866333 [GRCh38]
Chr18:32446297 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1662+2124C>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000295600] Chr18:34866186 [GRCh38]
Chr18:32446150 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.54G>A (p.Leu18=) single nucleotide variant Left ventricular noncompaction 1 [RCV001462545]|Left ventricular noncompaction cardiomyopathy [RCV000296448] Chr18:34756030 [GRCh38]
Chr18:32335994 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1324A>G (p.Met442Val) single nucleotide variant Left ventricular noncompaction 1 [RCV001895954] Chr18:34838815 [GRCh38]
Chr18:32418779 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+2409C>T single nucleotide variant not provided [RCV000843656] Chr18:34866471 [GRCh38]
Chr18:32446435 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1662+3339C>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000320823] Chr18:34867401 [GRCh38]
Chr18:32447365 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+4506C>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000322608] Chr18:34868568 [GRCh38]
Chr18:32448532 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+3776C>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000282151] Chr18:34867838 [GRCh38]
Chr18:32447802 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+2273A>G single nucleotide variant not provided [RCV000830484] Chr18:34866335 [GRCh38]
Chr18:32446299 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1662+3876T>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000395446] Chr18:34867938 [GRCh38]
Chr18:32447902 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2834A>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000276859] Chr18:34866896 [GRCh38]
Chr18:32446860 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2128G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000326729] Chr18:34866190 [GRCh38]
Chr18:32446154 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.784C>G (p.His262Asp) single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000397657] Chr18:34818238 [GRCh38]
Chr18:32398202 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+2661T>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000397366] Chr18:34866723 [GRCh38]
Chr18:32446687 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+3668A>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000372069] Chr18:34867730 [GRCh38]
Chr18:32447694 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+3079C>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000328890] Chr18:34867141 [GRCh38]
Chr18:32447105 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.85C>T (p.Arg29Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV003509767]|not specified [RCV004094404] Chr18:34765978 [GRCh38]
Chr18:32345942 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+3567G>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000285545] Chr18:34867629 [GRCh38]
Chr18:32447593 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+4512C>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000379649] Chr18:34868574 [GRCh38]
Chr18:32448538 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+3366T>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000380043] Chr18:34867428 [GRCh38]
Chr18:32447392 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+4225C>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000309885] Chr18:34868287 [GRCh38]
Chr18:32448251 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1662+3819G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000311651] Chr18:34867881 [GRCh38]
Chr18:32447845 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+4379dup duplication Left ventricular noncompaction cardiomyopathy [RCV000265158] Chr18:34868440..34868441 [GRCh38]
Chr18:32448404..32448405 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+4230G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000357717] Chr18:34868292 [GRCh38]
Chr18:32448256 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2174G>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000381376] Chr18:34866236 [GRCh38]
Chr18:32446200 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+3810G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000405280] Chr18:34867872 [GRCh38]
Chr18:32447836 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2881G>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000313374] Chr18:34866943 [GRCh38]
Chr18:32446907 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+3143T>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000383503] Chr18:34867205 [GRCh38]
Chr18:32447169 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.476G>A (p.Ser159Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV003765892]|not provided [RCV000497389]|not specified [RCV003317191] Chr18:34811986 [GRCh38]
Chr18:32391950 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001390.4(DTNA):c.1662+3791A>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000337320] Chr18:34867853 [GRCh38]
Chr18:32447817 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2456C>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000297120] Chr18:34866518 [GRCh38]
Chr18:32446482 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+2518G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000338016] Chr18:34866580 [GRCh38]
Chr18:32446544 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2929del deletion Left ventricular noncompaction cardiomyopathy [RCV000363320] Chr18:34866981 [GRCh38]
Chr18:32446945 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.1662+3143T>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000265455] Chr18:34867205 [GRCh38]
Chr18:32447169 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+2120C>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000389850] Chr18:34866182 [GRCh38]
Chr18:32446146 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+3825G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000352492] Chr18:34867887 [GRCh38]
Chr18:32447851 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001390.4(DTNA):c.1662+2997G>T single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000269097] Chr18:34867059 [GRCh38]
Chr18:32447023 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.869C>T (p.Thr290Met) single nucleotide variant Left ventricular noncompaction 1 [RCV000692292]|not provided [RCV000489142]|not specified [RCV004023255] Chr18:34818323 [GRCh38]
Chr18:32398287 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.944C>G (p.Pro315Arg) single nucleotide variant DTNA-related disorder [RCV003403132]|Left ventricular noncompaction 1 [RCV000642688]|not provided [RCV000489275] Chr18:34820858 [GRCh38]
Chr18:32400822 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1613A>G (p.Asn538Ser) single nucleotide variant not provided [RCV000489582] Chr18:34858365 [GRCh38]
Chr18:32438329 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.182C>G (p.Ala61Gly) single nucleotide variant Left ventricular noncompaction 1 [RCV001853639]|not provided [RCV000522495] Chr18:34794070 [GRCh38]
Chr18:32374034 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1651C>T (p.Arg551Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV001982611] Chr18:34863970 [GRCh38]
Chr18:32443934 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+4108del deletion Left ventricular noncompaction cardiomyopathy [RCV000363516] Chr18:34868155 [GRCh38]
Chr18:32448119 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.363-9A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002613719] Chr18:34806210 [GRCh38]
Chr18:32386174 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001390.4(DTNA):c.1662+2337T>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000283484] Chr18:34866399 [GRCh38]
Chr18:32446363 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+3929_1743+3931del deletion Left ventricular noncompaction cardiomyopathy [RCV000306548] Chr18:34867991..34867993 [GRCh38]
Chr18:32447955..32447957 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+2825dup duplication Left ventricular noncompaction 1 [RCV001197742]|Left ventricular noncompaction cardiomyopathy [RCV000366811] Chr18:34866875..34866876 [GRCh38]
Chr18:32446839..32446840 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+2330G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000404340] Chr18:34866392 [GRCh38]
Chr18:32446356 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+3652A>C single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000335936] Chr18:34867714 [GRCh38]
Chr18:32447678 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+2676G>A single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000312277] Chr18:34866738 [GRCh38]
Chr18:32446702 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001390.4(DTNA):c.1662+2437C>G single nucleotide variant Left ventricular noncompaction cardiomyopathy [RCV000395944] Chr18:34866499 [GRCh38]
Chr18:32446463 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2295+15G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002066554]|not specified [RCV000606283] Chr18:34882216 [GRCh38]
Chr18:32462180 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.1813C>T (p.Arg605Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV002530923]|not provided [RCV000590649] Chr18:34875308 [GRCh38]
Chr18:32455272 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.615G>A (p.Thr205=) single nucleotide variant Left ventricular noncompaction 1 [RCV001499180]|not specified [RCV000603032] Chr18:34815920 [GRCh38]
Chr18:32395884 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.177A>G (p.Ile59Met) single nucleotide variant Cardiac arrhythmia [RCV000415295]|Left ventricular noncompaction 1 [RCV001214045] Chr18:34794065 [GRCh38]
Chr18:32374029 [GRCh37]
Chr18:18q12.1		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.148T>G (p.Leu50Val) single nucleotide variant Left ventricular noncompaction 1 [RCV000534036] Chr18:34766041 [GRCh38]
Chr18:32346005 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1426T>C (p.Ser476Pro) single nucleotide variant not specified [RCV000412763] Chr18:34848375 [GRCh38]
Chr18:32428339 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2309G>A (p.Gly770Asp) single nucleotide variant not specified [RCV000413084] Chr18:34884741 [GRCh38]
Chr18:32464705 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)x3 copy number gain See cases [RCV000446047] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.1758C>T (p.Gly586=) single nucleotide variant not specified [RCV000417406] Chr18:34875253 [GRCh38]
Chr18:32455217 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+2093G>A single nucleotide variant not specified [RCV000434270] Chr18:34866155 [GRCh38]
Chr18:32446119 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2157C>T (p.Gly719=) single nucleotide variant Left ventricular noncompaction 1 [RCV002059594]|not specified [RCV000437863] Chr18:34879714 [GRCh38]
Chr18:32459678 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2227C>T (p.Arg743Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV002525434]|not provided [RCV002221535] Chr18:34882133 [GRCh38]
Chr18:32462097 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:163323-78005185)x3 copy number gain See cases [RCV000445851] Chr18:163323..78005185 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.1435-19T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002061382]|not provided [RCV001529046]|not specified [RCV000424112] Chr18:34851812 [GRCh38]
Chr18:32431776 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.657G>T (p.Pro219=) single nucleotide variant not specified [RCV000441821] Chr18:34815962 [GRCh38]
Chr18:32395926 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1325T>C (p.Met442Thr) single nucleotide variant not provided [RCV000418153] Chr18:34838816 [GRCh38]
Chr18:32418780 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.449-12T>C single nucleotide variant not specified [RCV000418333] Chr18:34811947 [GRCh38]
Chr18:32391911 [GRCh37]
Chr18:18q12.1		 likely benign
NM_032975.4(DTNA):c.-143C>A single nucleotide variant not specified [RCV000421170] Chr18:34493498 [GRCh38]
Chr18:32073462 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1254-12G>T single nucleotide variant not specified [RCV000435107] Chr18:34838733 [GRCh38]
Chr18:32418697 [GRCh37]
Chr18:18q12.1		 likely benign
NM_032975.4(DTNA):c.-127+12G>C single nucleotide variant not specified [RCV000438947] Chr18:34493526 [GRCh38]
Chr18:32073490 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.-2+6G>T single nucleotide variant not specified [RCV000418842] Chr18:34710451 [GRCh38]
Chr18:32290415 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1764C>T (p.Pro588=) single nucleotide variant not specified [RCV000429116] Chr18:34875259 [GRCh38]
Chr18:32455223 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.877-8C>G single nucleotide variant Left ventricular noncompaction 1 [RCV001422377]|not specified [RCV000432427] Chr18:34820783 [GRCh38]
Chr18:32400747 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1308C>T (p.Ile436=) single nucleotide variant not provided [RCV001712242] Chr18:34838799 [GRCh38]
Chr18:32418763 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2223T>G (p.Ser741=) single nucleotide variant not specified [RCV000435873] Chr18:34882129 [GRCh38]
Chr18:32462093 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2153G>A (p.Arg718His) single nucleotide variant Left ventricular noncompaction 1 [RCV002481308]|not provided [RCV001703696] Chr18:34879710 [GRCh38]
Chr18:32459674 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.537G>A (p.Thr179=) single nucleotide variant DTNA-related disorder [RCV004751522]|Left ventricular noncompaction 1 [RCV000642690]|not provided [RCV001698288] Chr18:34812047 [GRCh38]
Chr18:32392011 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.423A>G (p.Gly141=) single nucleotide variant Left ventricular noncompaction 1 [RCV001493008]|not provided [RCV004719081] Chr18:34806279 [GRCh38]
Chr18:32386243 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.675G>A (p.Leu225=) single nucleotide variant Left ventricular noncompaction 1 [RCV002525418]|not provided [RCV001704333]|not specified [RCV000439718] Chr18:34815980 [GRCh38]
Chr18:32395944 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.*2646T>C single nucleotide variant not specified [RCV000425915] Chr18:34890380 [GRCh38]
Chr18:32470344 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1149C>T (p.Tyr383=) single nucleotide variant DTNA-related disorder [RCV004751515]|not provided [RCV001529537]|not specified [RCV000436868] Chr18:34829463 [GRCh38]
Chr18:32409427 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1545G>A (p.Gln515=) single nucleotide variant not provided [RCV001703673] Chr18:34858297 [GRCh38]
Chr18:32438261 [GRCh37]
Chr18:18q12.1		 likely benign
NM_032975.4(DTNA):c.-21G>A single nucleotide variant not specified [RCV000440723] Chr18:34679573 [GRCh38]
Chr18:32259537 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.209T>C (p.Leu70Pro) single nucleotide variant Left ventricular noncompaction 1 [RCV000456553]|not provided [RCV002223215] Chr18:34794097 [GRCh38]
Chr18:32374061 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1251A>G (p.Lys417=) single nucleotide variant Left ventricular noncompaction 1 [RCV000464599] Chr18:34838169 [GRCh38]
Chr18:32418133 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2228G>A (p.Arg743Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV003766723]|not provided [RCV000481466] Chr18:34882134 [GRCh38]
Chr18:32462098 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.906A>C (p.Ala302=) single nucleotide variant Left ventricular noncompaction 1 [RCV000472328] Chr18:34820820 [GRCh38]
Chr18:32400784 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.448+17del deletion Left ventricular noncompaction 1 [RCV002056794]|not specified [RCV000482422] Chr18:34806320 [GRCh38]
Chr18:32386284 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.239G>A (p.Arg80His) single nucleotide variant Left ventricular noncompaction 1 [RCV000458154]|not provided [RCV000786307] Chr18:34794127 [GRCh38]
Chr18:32374091 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1367G>A (p.Arg456Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV000461776]|not specified [RCV004022888] Chr18:34848316 [GRCh38]
Chr18:32428280 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.371A>G (p.His124Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV000466057]|not provided [RCV000522103] Chr18:34806227 [GRCh38]
Chr18:32386191 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1183C>T (p.Pro395Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV000470138] Chr18:34838101 [GRCh38]
Chr18:32418065 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:20069932-36887326)x1 copy number loss See cases [RCV000510691] Chr18:20069932..36887326 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_001386795.1(DTNA):c.1030G>A (p.Asp344Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV001865560]|not provided [RCV000498376] Chr18:34827621 [GRCh38]
Chr18:32407585 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1-12.2(chr18:30368042-36078516)x1 copy number loss See cases [RCV000511858] Chr18:30368042..36078516 [GRCh37]
Chr18:18q12.1-12.2		 likely pathogenic
GRCh37/hg19 18q11.1-22.1(chr18:18521285-64495798)x3 copy number gain See cases [RCV000511734] Chr18:18521285..64495798 [GRCh37]
Chr18:18q11.1-22.1		 pathogenic
GRCh37/hg19 18p11.21-q23(chr18:14869204-78014123)x3 copy number gain See cases [RCV000512030] Chr18:14869204..78014123 [GRCh37]
Chr18:18p11.21-q23		 pathogenic
GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3 copy number gain See cases [RCV000511857] Chr18:136227..46171053 [GRCh37]
Chr18:18p11.32-q21.1		 pathogenic
GRCh37/hg19 18q11.2-21.1(chr18:24835114-46917217)x3 copy number gain See cases [RCV000511124] Chr18:24835114..46917217 [GRCh37]
Chr18:18q11.2-21.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136227-78014123) copy number gain See cases [RCV000511189] Chr18:136227..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.823C>T (p.His275Tyr) single nucleotide variant Left ventricular noncompaction 1 [RCV000642687] Chr18:34818277 [GRCh38]
Chr18:32398241 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.229A>G (p.Asn77Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV001465679]|not provided [RCV000514099]|not specified [RCV004023485] Chr18:34794117 [GRCh38]
Chr18:32374081 [GRCh37]
Chr18:18q12.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001386795.1(DTNA):c.68-7G>A single nucleotide variant DTNA-related disorder [RCV003928040]|Left ventricular noncompaction 1 [RCV001469645]|Primary dilated cardiomyopathy [RCV000626807]|not specified [RCV003317301] Chr18:34765954 [GRCh38]
Chr18:32345918 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.978G>A (p.Lys326=) single nucleotide variant Left ventricular noncompaction 1 [RCV000608619] Chr18:34820892 [GRCh38]
Chr18:32400856 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2094G>A (p.Ala698=) single nucleotide variant Left ventricular noncompaction 1 [RCV002064172]|not specified [RCV000610036] Chr18:34879651 [GRCh38]
Chr18:32459615 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2295+10T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003767553]|not specified [RCV000610077] Chr18:34882211 [GRCh38]
Chr18:32462175 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1435-11A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002529540]|not specified [RCV000616058] Chr18:34851820 [GRCh38]
Chr18:32431784 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.228C>T (p.Leu76=) single nucleotide variant not specified [RCV000616147] Chr18:34794116 [GRCh38]
Chr18:32374080 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.149-15C>G single nucleotide variant Left ventricular noncompaction 1 [RCV002063919]|not specified [RCV000616299] Chr18:34794022 [GRCh38]
Chr18:32373986 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.126G>A (p.Arg42=) single nucleotide variant Left ventricular noncompaction 1 [RCV000642693]|not provided [RCV001528846]|not specified [RCV000616812] Chr18:34766019 [GRCh38]
Chr18:32345983 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1479C>T (p.Ile493=) single nucleotide variant DTNA-related disorder [RCV003900181]|Left ventricular noncompaction 1 [RCV000529708] Chr18:34851875 [GRCh38]
Chr18:32431839 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.68-5A>G single nucleotide variant Left ventricular noncompaction 1 [RCV000642691]|not provided [RCV001637110]|not specified [RCV001779032] Chr18:34765956 [GRCh38]
Chr18:32345920 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1431G>A (p.Ser477=) single nucleotide variant Left ventricular noncompaction 1 [RCV002064104]|not specified [RCV000611740] Chr18:34848380 [GRCh38]
Chr18:32428344 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.67+8T>C single nucleotide variant Left ventricular noncompaction 1 [RCV000535207] Chr18:34756051 [GRCh38]
Chr18:32336015 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=) single nucleotide variant Left ventricular noncompaction 1 [RCV002063163]|not provided [RCV001697558] Chr18:34877733 [GRCh38]
Chr18:32457697 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.708T>C (p.Asn236=) single nucleotide variant not specified [RCV000604390] Chr18:34816013 [GRCh38]
Chr18:32395977 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q12.1-23(chr18:31879854-78014123)x3 copy number gain See cases [RCV000512425] Chr18:31879854..78014123 [GRCh37]
Chr18:18q12.1-23		 pathogenic
NM_001386795.1(DTNA):c.2195C>T (p.Pro732Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV001861695]|not provided [RCV000658309] Chr18:34882101 [GRCh38]
Chr18:32462065 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1-12.2(chr18:29711972-35866193)x1 copy number loss not provided [RCV000684043] Chr18:29711972..35866193 [GRCh37]
Chr18:18q12.1-12.2		 pathogenic
NM_001386795.1(DTNA):c.506A>G (p.Gln169Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV000690368] Chr18:34812016 [GRCh38]
Chr18:32391980 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.642G>A (p.Met214Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV000707484]|not provided [RCV001508825] Chr18:34815947 [GRCh38]
Chr18:32395911 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.482T>C (p.Val161Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV000702581]|not provided [RCV001528578] Chr18:34811992 [GRCh38]
Chr18:32391956 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1397G>C (p.Arg466Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV000702752] Chr18:34848346 [GRCh38]
Chr18:32428310 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1289C>T (p.Ala430Val) single nucleotide variant DTNA-related disorder [RCV003411602]|Left ventricular noncompaction 1 [RCV000689066] Chr18:34838780 [GRCh38]
Chr18:32418744 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.1-21.2(chr18:18539806-49926444)x2 copy number gain not provided [RCV000739776] Chr18:18539806..49926444 [GRCh37]
Chr18:18q11.1-21.2		 pathogenic
NM_001386795.1(DTNA):c.937C>T (p.Arg313Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV001873744]|not provided [RCV001529799]|not specified [RCV004039209] Chr18:34820851 [GRCh38]
Chr18:32400815 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1562G>A (p.Arg521Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV002064768]|not specified [RCV004027846] Chr18:34858314 [GRCh38]
Chr18:32438278 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.*2272C>T single nucleotide variant not provided [RCV001648313] Chr18:34890006 [GRCh38]
Chr18:32469970 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.864G>A (p.Glu288=) single nucleotide variant Left ventricular noncompaction 1 [RCV000862569] Chr18:34818318 [GRCh38]
Chr18:32398282 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.-2+231GT[11] microsatellite not provided [RCV001681904] Chr18:34710676..34710679 [GRCh38]
Chr18:32290640..32290643 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV000761211] Chr18:34766039 [GRCh38]
Chr18:32346003 [GRCh37]
Chr18:18q12.1		 pathogenic|uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:12842-78015180)x3 copy number gain not provided [RCV000752245] Chr18:12842..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
GRCh37/hg19 18p11.32-q23(chr18:13034-78015180)x3 copy number gain not provided [RCV000752246] Chr18:13034..78015180 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.603+7G>C single nucleotide variant Left ventricular noncompaction 1 [RCV000943701] Chr18:34812120 [GRCh38]
Chr18:32392084 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18q11.2-12.2(chr18:22868759-34335753)x1 copy number loss not provided [RCV001006964] Chr18:22868759..34335753 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_001386795.1(DTNA):c.879A>G (p.Lys293=) single nucleotide variant Left ventricular noncompaction 1 [RCV001035701] Chr18:34820793 [GRCh38]
Chr18:32400757 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.828C>T (p.Ala276=) single nucleotide variant Left ventricular noncompaction 1 [RCV002061128]|not specified [RCV000781337] Chr18:34818282 [GRCh38]
Chr18:32398246 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.1821G>T (p.Ala607=) single nucleotide variant Left ventricular noncompaction 1 [RCV003768456]|not specified [RCV000781336] Chr18:34875316 [GRCh38]
Chr18:32455280 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.114A>T (p.Ala38=) single nucleotide variant Left ventricular noncompaction 1 [RCV001467038] Chr18:34766007 [GRCh38]
Chr18:32345971 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1776C>T (p.Pro592=) single nucleotide variant Left ventricular noncompaction 1 [RCV002067377]|not specified [RCV000781338] Chr18:34875271 [GRCh38]
Chr18:32455235 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.363-198A>G single nucleotide variant not provided [RCV000831873] Chr18:34806021 [GRCh38]
Chr18:32385985 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.448+72T>C single nucleotide variant not provided [RCV000831877] Chr18:34806376 [GRCh38]
Chr18:32386340 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.603+137G>A single nucleotide variant not provided [RCV000831879] Chr18:34812250 [GRCh38]
Chr18:32392214 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.603+168A>G single nucleotide variant not provided [RCV000831881] Chr18:34812281 [GRCh38]
Chr18:32392245 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.877-169G>T single nucleotide variant not provided [RCV000831882] Chr18:34820622 [GRCh38]
Chr18:32400586 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1002-132A>G single nucleotide variant not provided [RCV000831913] Chr18:34827461 [GRCh38]
Chr18:32407425 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1086-464T>C single nucleotide variant not provided [RCV000831914] Chr18:34828936 [GRCh38]
Chr18:32408900 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1175+118T>C single nucleotide variant not provided [RCV000831915] Chr18:34829607 [GRCh38]
Chr18:32409571 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1253+130G>A single nucleotide variant not provided [RCV000831918] Chr18:34838301 [GRCh38]
Chr18:32418265 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1743+140A>G single nucleotide variant not provided [RCV000831919] Chr18:34864202 [GRCh38]
Chr18:32444166 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1743+159C>T single nucleotide variant not provided [RCV000831920] Chr18:34864221 [GRCh38]
Chr18:32444185 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.*31+205G>C single nucleotide variant not provided [RCV000831956] Chr18:34884981 [GRCh38]
Chr18:32464945 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1002-2635_1002-2631del deletion not provided [RCV000830348] Chr18:34824956..34824960 [GRCh38]
Chr18:32404920..32404924 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1085+250A>G single nucleotide variant not provided [RCV000831060] Chr18:34827926 [GRCh38]
Chr18:32407890 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.-1-279A>G single nucleotide variant not provided [RCV000828492] Chr18:34755697 [GRCh38]
Chr18:32335661 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1708A>G (p.Met570Val) single nucleotide variant Left ventricular noncompaction 1 [RCV000823352] Chr18:34864027 [GRCh38]
Chr18:32443991 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2295+200C>T single nucleotide variant not provided [RCV000831927] Chr18:34882401 [GRCh38]
Chr18:32462365 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.877-239G>T single nucleotide variant not provided [RCV000838074] Chr18:34820552 [GRCh38]
Chr18:32400516 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1696C>T (p.Arg566Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV000816424] Chr18:34864015 [GRCh38]
Chr18:32443979 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.709+260G>A single nucleotide variant not provided [RCV000828895] Chr18:34816274 [GRCh38]
Chr18:32396238 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2296-102C>G single nucleotide variant not provided [RCV000834793] Chr18:34884626 [GRCh38]
Chr18:32464590 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.149-265A>C single nucleotide variant not provided [RCV000843643] Chr18:34793772 [GRCh38]
Chr18:32373736 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2295+253C>T single nucleotide variant not provided [RCV000843650] Chr18:34882454 [GRCh38]
Chr18:32462418 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1484C>T (p.Ala495Val) single nucleotide variant Left ventricular noncompaction 1 [RCV000791847] Chr18:34851880 [GRCh38]
Chr18:32431844 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.363-102A>G single nucleotide variant not provided [RCV000830478] Chr18:34806117 [GRCh38]
Chr18:32386081 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1001+31del deletion not provided [RCV000830481] Chr18:34820946 [GRCh38]
Chr18:32400910 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4:c.1662+2271C>T single nucleotide variant not provided [RCV000830483] Chr18:32446297 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.149-181T>C single nucleotide variant not provided [RCV000835118] Chr18:34793856 [GRCh38]
Chr18:32373820 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1532+220G>C single nucleotide variant not provided [RCV000835120] Chr18:34852148 [GRCh38]
Chr18:32432112 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1435-83C>A single nucleotide variant not provided [RCV000835146] Chr18:34851748 [GRCh38]
Chr18:32431712 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.149-128T>C single nucleotide variant not provided [RCV000833618] Chr18:34793909 [GRCh38]
Chr18:32373873 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.362+129A>G single nucleotide variant not provided [RCV000833658] Chr18:34794379 [GRCh38]
Chr18:32374343 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1994-138A>G single nucleotide variant not provided [RCV000835347] Chr18:34879413 [GRCh38]
Chr18:32459377 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4(DTNA):c.*31+205G>T single nucleotide variant not provided [RCV000833971] Chr18:34884981 [GRCh38]
Chr18:32464945 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.448+238C>A single nucleotide variant not provided [RCV000838129] Chr18:34806542 [GRCh38]
Chr18:32386506 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1532+225A>G single nucleotide variant not provided [RCV000838130] Chr18:34852153 [GRCh38]
Chr18:32432117 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1904-246A>T single nucleotide variant not provided [RCV000838131] Chr18:34877473 [GRCh38]
Chr18:32457437 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1253+51T>A single nucleotide variant not provided [RCV000830482] Chr18:34838222 [GRCh38]
Chr18:32418186 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.603+167C>T single nucleotide variant not provided [RCV000835119] Chr18:34812280 [GRCh38]
Chr18:32392244 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.449-106A>G single nucleotide variant not provided [RCV000835363] Chr18:34811853 [GRCh38]
Chr18:32391817 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2535A>G single nucleotide variant not provided [RCV000835364] Chr18:34825058 [GRCh38]
Chr18:32405022 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1434+222G>A single nucleotide variant not provided [RCV000838719] Chr18:34848605 [GRCh38]
Chr18:32428569 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2486C>T single nucleotide variant not provided [RCV000831912] Chr18:34825107 [GRCh38]
Chr18:32405071 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2163-137A>G single nucleotide variant not provided [RCV000831924] Chr18:34881932 [GRCh38]
Chr18:32461896 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1349T>C (p.Met450Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV000808093] Chr18:34848298 [GRCh38]
Chr18:32428262 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.188G>A (p.Arg63Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV000793840] Chr18:34794076 [GRCh38]
Chr18:32374040 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.363-82C>A single nucleotide variant not provided [RCV000830479] Chr18:34806137 [GRCh38]
Chr18:32386101 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2162+21A>G single nucleotide variant not provided [RCV000830293] Chr18:34879740 [GRCh38]
Chr18:32459704 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1646+305C>G single nucleotide variant not provided [RCV000828493] Chr18:34858703 [GRCh38]
Chr18:32438667 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.363-58T>C single nucleotide variant not provided [RCV000830480] Chr18:34806161 [GRCh38]
Chr18:32386125 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4:c.1662+2273A>G single nucleotide variant not provided [RCV000830484] Chr18:32446299 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1253+54A>G single nucleotide variant not provided [RCV000830602] Chr18:34838225 [GRCh38]
Chr18:32418189 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.362+260T>C single nucleotide variant not provided [RCV000828710] Chr18:34794510 [GRCh38]
Chr18:32374474 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1254-75T>A single nucleotide variant not provided [RCV000833619] Chr18:34838670 [GRCh38]
Chr18:32418634 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.149-285A>T single nucleotide variant not provided [RCV000843642] Chr18:34793752 [GRCh38]
Chr18:32373716 [GRCh37]
Chr18:18q12.1		 benign
NM_001390.4:c.1662+2409C>T single nucleotide variant not provided [RCV000843656] Chr18:32446435 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2295+321C>T single nucleotide variant not provided [RCV000828897] Chr18:34882522 [GRCh38]
Chr18:32462486 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1637G>A (p.Arg546Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV000807559]|not provided [RCV004693325] Chr18:34858389 [GRCh38]
Chr18:32438353 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.710-544C>T single nucleotide variant not provided [RCV000844029] Chr18:34817620 [GRCh38]
Chr18:32397584 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1598A>G (p.Glu533Gly) single nucleotide variant Left ventricular noncompaction 1 [RCV000794535] Chr18:34858350 [GRCh38]
Chr18:32438314 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.148+144G>T single nucleotide variant not provided [RCV000831870] Chr18:34766185 [GRCh38]
Chr18:32346149 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1175+190C>T single nucleotide variant not provided [RCV000835365] Chr18:34829679 [GRCh38]
Chr18:32409643 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1175+208T>G single nucleotide variant not provided [RCV000835366] Chr18:34829697 [GRCh38]
Chr18:32409661 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.504C>T (p.Asp168=) single nucleotide variant Left ventricular noncompaction 1 [RCV000938227] Chr18:34812014 [GRCh38]
Chr18:32391978 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1841C>T (p.Thr614Met) single nucleotide variant Left ventricular noncompaction 1 [RCV001863058]|not specified [RCV001193586] Chr18:34875336 [GRCh38]
Chr18:32455300 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1753G>A (p.Ala585Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV003770182]|not specified [RCV001193587] Chr18:34875248 [GRCh38]
Chr18:32455212 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.604-7T>A single nucleotide variant Left ventricular noncompaction 1 [RCV001224064] Chr18:34815902 [GRCh38]
Chr18:32395866 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.433A>T (p.Met145Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV001214089] Chr18:34806289 [GRCh38]
Chr18:32386253 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.842G>A (p.Ser281Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV001239579] Chr18:34818296 [GRCh38]
Chr18:32398260 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.603+3A>G single nucleotide variant Left ventricular noncompaction 1 [RCV001201842] Chr18:34812116 [GRCh38]
Chr18:32392080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.244G>A (p.Glu82Lys) single nucleotide variant not provided [RCV000996677] Chr18:34794132 [GRCh38]
Chr18:32374096 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.536C>T (p.Thr179Met) single nucleotide variant Left ventricular noncompaction 1 [RCV001858842] Chr18:34812046 [GRCh38]
Chr18:32392010 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1086-352G>A single nucleotide variant DTNA-related disorder [RCV003894333] Chr18:34829048 [GRCh38]
Chr18:32409012 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1509T>C (p.Ile503=) single nucleotide variant not provided [RCV000996680] Chr18:34851905 [GRCh38]
Chr18:32431869 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.140A>G (p.Lys47Arg) single nucleotide variant not provided [RCV001175280] Chr18:34766033 [GRCh38]
Chr18:32345997 [GRCh37]
Chr18:18q12.1		 not provided
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) single nucleotide variant DTNA-related disorder [RCV003938553]|Left ventricular noncompaction 1 [RCV002069267]|not provided [RCV001655700]|not specified [RCV001195187] Chr18:34882084 [GRCh38]
Chr18:32462048 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.709+20C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003106563] Chr18:34816034 [GRCh38]
Chr18:32395998 [GRCh37]
Chr18:18q12.1		 likely benign
NC_000018.9:g.(?_32335941)_(32464709_?)dup duplication Left ventricular noncompaction 1 [RCV003107392] Chr18:32335941..32464709 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2083G>T (p.Ala695Ser) single nucleotide variant not specified [RCV003317807] Chr18:34879640 [GRCh38]
Chr18:32459604 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.876+474C>A single nucleotide variant not provided [RCV001655544] Chr18:34818804 [GRCh38]
Chr18:32398768 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1993+161del deletion not provided [RCV001608581] Chr18:34877960 [GRCh38]
Chr18:32457924 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1743+205_1743+206dup duplication not provided [RCV001641931] Chr18:34864248..34864249 [GRCh38]
Chr18:32444212..32444213 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1002-2520dup duplication not provided [RCV001617589] Chr18:34825063..34825064 [GRCh38]
Chr18:32405027..32405028 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1209C>T (p.Asn403=) single nucleotide variant Left ventricular noncompaction 1 [RCV001505454] Chr18:34838127 [GRCh38]
Chr18:32418091 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.481G>A (p.Val161Met) single nucleotide variant Left ventricular noncompaction 1 [RCV001225863] Chr18:34811991 [GRCh38]
Chr18:32391955 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.187C>G (p.Arg63Gly) single nucleotide variant Left ventricular noncompaction 1 [RCV001206579] Chr18:34794075 [GRCh38]
Chr18:32374039 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_032975.4(DTNA):c.-126-85934C>T single nucleotide variant not provided [RCV001658409] Chr18:34593534 [GRCh38]
Chr18:32173498 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2295+5A>G single nucleotide variant not specified [RCV001553577] Chr18:34882206 [GRCh38]
Chr18:32462170 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+206dup duplication not provided [RCV001656722] Chr18:34864248..34864249 [GRCh38]
Chr18:32444212..32444213 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2163-210dup duplication not provided [RCV001677271] Chr18:34881852..34881853 [GRCh38]
Chr18:32461816..32461817 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2296-101TG[3] microsatellite not provided [RCV001653264] Chr18:34884626..34884627 [GRCh38]
Chr18:32464590..32464591 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.-2+12T>C single nucleotide variant not provided [RCV001682166] Chr18:34710457 [GRCh38]
Chr18:32290421 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.-2+231GT[14] microsatellite not provided [RCV001698651] Chr18:34710675..34710676 [GRCh38]
Chr18:32290639..32290640 [GRCh37]
Chr18:18q12.1		 benign
NM_032975.4(DTNA):c.-127+62G>A single nucleotide variant not provided [RCV001717843] Chr18:34493576 [GRCh38]
Chr18:32073540 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.2296-194_2296-193del microsatellite not provided [RCV001620146] Chr18:34884532..34884533 [GRCh38]
Chr18:32464496..32464497 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1002-2640dup duplication not provided [RCV001674852] Chr18:34824932..34824933 [GRCh38]
Chr18:32404896..32404897 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.654C>A (p.Pro218=) single nucleotide variant Left ventricular noncompaction 1 [RCV001001741] Chr18:34815959 [GRCh38]
Chr18:32395923 [GRCh37]
Chr18:18q12.1		 likely benign
NM_032975.4(DTNA):c.-126-99A>T single nucleotide variant not provided [RCV001684550] Chr18:34679369 [GRCh38]
Chr18:32259333 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1002-2640del deletion not provided [RCV001710344] Chr18:34824933 [GRCh38]
Chr18:32404897 [GRCh37]
Chr18:18q12.1		 benign
GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3 copy number gain not provided [RCV001537911] Chr18:23626739..78014976 [GRCh37]
Chr18:18q11.2-23		 pathogenic
NM_001386795.1(DTNA):c.-2+231GT[15] microsatellite not provided [RCV001538370] Chr18:34710675..34710676 [GRCh38]
Chr18:32290639..32290640 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1692G>C (p.Glu564Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV001594553] Chr18:34864011 [GRCh38]
Chr18:32443975 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_001386795.1(DTNA):c.1260G>T (p.Gln420His) single nucleotide variant Left ventricular noncompaction 1 [RCV001218906] Chr18:34838751 [GRCh38]
Chr18:32418715 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1533-6C>G single nucleotide variant Left ventricular noncompaction 1 [RCV001204332] Chr18:34858279 [GRCh38]
Chr18:32438243 [GRCh37]
Chr18:18q12.1		 likely benign|uncertain significance
NM_001386795.1(DTNA):c.969G>C (p.Gln323His) single nucleotide variant Left ventricular noncompaction 1 [RCV001215231]|not specified [RCV004033958] Chr18:34820883 [GRCh38]
Chr18:32400847 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-21.2(chr18:20689919-49455212)x3 copy number gain not provided [RCV001006980] Chr18:20689919..49455212 [GRCh37]
Chr18:18q11.2-21.2		 pathogenic
NM_001386795.1(DTNA):c.515G>A (p.Arg172Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV001203571] Chr18:34812025 [GRCh38]
Chr18:32391989 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.86G>A (p.Arg29His) single nucleotide variant Left ventricular noncompaction 1 [RCV001039097] Chr18:34765979 [GRCh38]
Chr18:32345943 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:32369954-32572826)x3 copy number gain not provided [RCV001258866] Chr18:32369954..32572826 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1011A>C (p.Arg337Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV001295880] Chr18:34827602 [GRCh38]
Chr18:32407566 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18p11.32-q23(chr18:1-78077248) copy number gain Trisomy 18 [RCV002280660] Chr18:1..78077248 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.938G>A (p.Arg313His) single nucleotide variant Left ventricular noncompaction 1 [RCV001317184] Chr18:34820852 [GRCh38]
Chr18:32400816 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.894G>T (p.Lys298Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV001295888] Chr18:34820808 [GRCh38]
Chr18:32400772 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1347-1G>A single nucleotide variant Left ventricular noncompaction 1 [RCV001301258] Chr18:34848295 [GRCh38]
Chr18:32428259 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1 copy number loss See cases [RCV001263022] Chr18:23971647..33737300 [GRCh37]
Chr18:18q11.2-12.2		 pathogenic
NM_001386795.1(DTNA):c.1028A>T (p.Asn343Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV001298871] Chr18:34827619 [GRCh38]
Chr18:32407583 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.154C>G (p.Leu52Val) single nucleotide variant Left ventricular noncompaction 1 [RCV001321881] Chr18:34794042 [GRCh38]
Chr18:32374006 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.710-4T>G single nucleotide variant Left ventricular noncompaction 1 [RCV001391770] Chr18:34818160 [GRCh38]
Chr18:32398124 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.604-10T>C single nucleotide variant Left ventricular noncompaction 1 [RCV001335835] Chr18:34815899 [GRCh38]
Chr18:32395863 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.232G>A (p.Val78Met) single nucleotide variant Left ventricular noncompaction 1 [RCV001338772] Chr18:34794120 [GRCh38]
Chr18:32374084 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1636C>T (p.Arg546Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV001371629] Chr18:34858388 [GRCh38]
Chr18:32438352 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1291G>A (p.Asp431Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV001360392] Chr18:34838782 [GRCh38]
Chr18:32418746 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.872_875dup (p.Trp292fs) duplication Left ventricular noncompaction 1 [RCV001345624] Chr18:34818325..34818326 [GRCh38]
Chr18:32398289..32398290 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1270A>G (p.Asn424Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV001350989] Chr18:34838761 [GRCh38]
Chr18:32418725 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.322A>G (p.Ile108Val) single nucleotide variant Left ventricular noncompaction 1 [RCV001337140] Chr18:34794210 [GRCh38]
Chr18:32374174 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1848G>A (p.Thr616=) single nucleotide variant Left ventricular noncompaction 1 [RCV002550223]|not provided [RCV001673049]|not specified [RCV001375557] Chr18:34875343 [GRCh38]
Chr18:32455307 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1352T>C (p.Leu451Pro) single nucleotide variant Left ventricular noncompaction 1 [RCV001315844] Chr18:34848301 [GRCh38]
Chr18:32428265 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.876+9A>G single nucleotide variant Left ventricular noncompaction 1 [RCV001486969] Chr18:34818339 [GRCh38]
Chr18:32398303 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.69G>A (p.Arg23=) single nucleotide variant Left ventricular noncompaction 1 [RCV001462292] Chr18:34765962 [GRCh38]
Chr18:32345926 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1428T>C (p.Ser476=) single nucleotide variant Left ventricular noncompaction 1 [RCV001467884] Chr18:34848377 [GRCh38]
Chr18:32428341 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.153C>T (p.His51=) single nucleotide variant Left ventricular noncompaction 1 [RCV001498815] Chr18:34794041 [GRCh38]
Chr18:32374005 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.333C>T (p.Leu111=) single nucleotide variant Left ventricular noncompaction 1 [RCV001439347] Chr18:34794221 [GRCh38]
Chr18:32374185 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu) single nucleotide variant not provided [RCV001529589] Chr18:34827598 [GRCh38]
Chr18:32407562 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.282A>G (p.Lys94=) single nucleotide variant Left ventricular noncompaction 1 [RCV001407260] Chr18:34794170 [GRCh38]
Chr18:32374134 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1254-9_1254-8del deletion Left ventricular noncompaction 1 [RCV001431331] Chr18:34838736..34838737 [GRCh38]
Chr18:32418700..32418701 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.354G>A (p.Ala118=) single nucleotide variant Left ventricular noncompaction 1 [RCV001408587] Chr18:34794242 [GRCh38]
Chr18:32374206 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1592C>T (p.Thr531Met) single nucleotide variant Left ventricular noncompaction 1 [RCV001442983]|not provided [RCV001751767] Chr18:34858344 [GRCh38]
Chr18:32438308 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.15T>C (p.Ser5=) single nucleotide variant Left ventricular noncompaction 1 [RCV001457370] Chr18:34755991 [GRCh38]
Chr18:32335955 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.-1-287A>T single nucleotide variant not provided [RCV001668949] Chr18:34755689 [GRCh38]
Chr18:32335653 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.*2761C>T single nucleotide variant not provided [RCV001707271] Chr18:34890495 [GRCh38]
Chr18:32470459 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.840T>C (p.His280=) single nucleotide variant Left ventricular noncompaction 1 [RCV002032665]|not provided [RCV001684740] Chr18:34818294 [GRCh38]
Chr18:32398258 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.174C>T (p.Val58=) single nucleotide variant Left ventricular noncompaction 1 [RCV001476310] Chr18:34794062 [GRCh38]
Chr18:32374026 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.267T>C (p.Phe89=) single nucleotide variant Left ventricular noncompaction 1 [RCV001496420] Chr18:34794155 [GRCh38]
Chr18:32374119 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2609G>A single nucleotide variant not provided [RCV001707993] Chr18:34824984 [GRCh38]
Chr18:32404948 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.-2+231GT[12] microsatellite not provided [RCV001649341] Chr18:34710676..34710677 [GRCh38]
Chr18:32290640..32290641 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.*2571C>T single nucleotide variant not provided [RCV001685671] Chr18:34890305 [GRCh38]
Chr18:32470269 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.604-13T>G single nucleotide variant Left ventricular noncompaction 1 [RCV003509679]|not provided [RCV001614002] Chr18:34815896 [GRCh38]
Chr18:32395860 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.48A>G (p.Arg16=) single nucleotide variant Left ventricular noncompaction 1 [RCV001467450] Chr18:34756024 [GRCh38]
Chr18:32335988 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.876+747A>T single nucleotide variant not provided [RCV001679071] Chr18:34819077 [GRCh38]
Chr18:32399041 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.363-150A>G single nucleotide variant not provided [RCV001714988] Chr18:34806069 [GRCh38]
Chr18:32386033 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1001+7A>G single nucleotide variant Left ventricular noncompaction 1 [RCV001435848] Chr18:34820922 [GRCh38]
Chr18:32400886 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.657G>A (p.Pro219=) single nucleotide variant Left ventricular noncompaction 1 [RCV001499989] Chr18:34815962 [GRCh38]
Chr18:32395926 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.381T>A (p.Ile127=) single nucleotide variant Left ventricular noncompaction 1 [RCV001458426] Chr18:34806237 [GRCh38]
Chr18:32386201 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.362+9C>T single nucleotide variant Left ventricular noncompaction 1 [RCV001483401] Chr18:34794259 [GRCh38]
Chr18:32374223 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1176-10T>C single nucleotide variant Left ventricular noncompaction 1 [RCV001402047] Chr18:34838084 [GRCh38]
Chr18:32418048 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.837T>A (p.Ser279=) single nucleotide variant Left ventricular noncompaction 1 [RCV001502682] Chr18:34818291 [GRCh38]
Chr18:32398255 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1176-12C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003108838] Chr18:34838082 [GRCh38]
Chr18:32418046 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1231C>G (p.Pro411Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV003107368] Chr18:34838149 [GRCh38]
Chr18:32418113 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1086-516T>A single nucleotide variant not provided [RCV001769709] Chr18:34828884 [GRCh38]
Chr18:32408848 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2641_1002-2640dup duplication not provided [RCV001768142] Chr18:34824932..34824933 [GRCh38]
Chr18:32404896..32404897 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.*2592C>T single nucleotide variant not provided [RCV001774987] Chr18:34890326 [GRCh38]
Chr18:32470290 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.*2581G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002273304] Chr18:34890315 [GRCh38]
Chr18:32470279 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1904-230T>C single nucleotide variant not provided [RCV001769771] Chr18:34877489 [GRCh38]
Chr18:32457453 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.148+29A>G single nucleotide variant not provided [RCV001752947] Chr18:34766070 [GRCh38]
Chr18:32346034 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1532+135T>C single nucleotide variant not provided [RCV001752958] Chr18:34852063 [GRCh38]
Chr18:32432027 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1176-254A>G single nucleotide variant not provided [RCV001753012] Chr18:34837840 [GRCh38]
Chr18:32417804 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.720G>A (p.Pro240=) single nucleotide variant not provided [RCV001769725] Chr18:34818174 [GRCh38]
Chr18:32398138 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1347-69del deletion not provided [RCV001769949] Chr18:34848226 [GRCh38]
Chr18:32428190 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.93A>G (p.Arg31=) single nucleotide variant Left ventricular noncompaction 1 [RCV003509689]|not provided [RCV001753031] Chr18:34765986 [GRCh38]
Chr18:32345950 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.1646+283G>A single nucleotide variant not provided [RCV001769558] Chr18:34858681 [GRCh38]
Chr18:32438645 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2520del deletion not provided [RCV001769656] Chr18:34825064 [GRCh38]
Chr18:32405028 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+72G>A single nucleotide variant not provided [RCV001768102] Chr18:34864134 [GRCh38]
Chr18:32444098 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2642_1002-2640del deletion not provided [RCV001769661] Chr18:34824933..34824935 [GRCh38]
Chr18:32404897..32404899 [GRCh37]
Chr18:18q12.1		 likely benign
Single allele deletion Intellectual disability [RCV001787257] Chr18:1262336..53254747 [GRCh37]
Chr18:18p11.32-q21.2		 pathogenic
NM_001386795.1(DTNA):c.68-242C>G single nucleotide variant not provided [RCV001759257] Chr18:34765719 [GRCh38]
Chr18:32345683 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.*2523A>G single nucleotide variant not provided [RCV001776578] Chr18:34890257 [GRCh38]
Chr18:32470221 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743+212G>A single nucleotide variant not provided [RCV001753160] Chr18:34864274 [GRCh38]
Chr18:32444238 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1086-472A>G single nucleotide variant not provided [RCV001752998] Chr18:34828928 [GRCh38]
Chr18:32408892 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2283T>C (p.Asp761=) single nucleotide variant DTNA-related disorder [RCV003968541]|Left ventricular noncompaction 1 [RCV002077201]|not provided [RCV001758966] Chr18:34882189 [GRCh38]
Chr18:32462153 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1176-47C>A single nucleotide variant not provided [RCV001752876] Chr18:34838047 [GRCh38]
Chr18:32418011 [GRCh37]
Chr18:18q12.1		 likely benign
NM_032975.4(DTNA):c.-126-85723C>T single nucleotide variant not provided [RCV001759301] Chr18:34593745 [GRCh38]
Chr18:32173709 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1532+16C>T single nucleotide variant Left ventricular noncompaction 1 [RCV001802455] Chr18:34851944 [GRCh38]
Chr18:32431908 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1994-18T>A single nucleotide variant Left ventricular noncompaction 1 [RCV001802677] Chr18:34879533 [GRCh38]
Chr18:32459497 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1343C>A (p.Ser448Ter) single nucleotide variant Left ventricular noncompaction 1 [RCV002040016] Chr18:34838834 [GRCh38]
Chr18:32418798 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.675G>C (p.Leu225Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV002025004] Chr18:34815980 [GRCh38]
Chr18:32395944 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.829G>A (p.Gly277Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV001823634] Chr18:34818283 [GRCh38]
Chr18:32398247 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1936G>T (p.Val646Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV001966186] Chr18:34877751 [GRCh38]
Chr18:32457715 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.472T>G (p.Ser158Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV001896584] Chr18:34811982 [GRCh38]
Chr18:32391946 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1760C>G (p.Ser587Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV002024218] Chr18:34875255 [GRCh38]
Chr18:32455219 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2276T>C (p.Leu759Pro) single nucleotide variant Left ventricular noncompaction 1 [RCV002007969] Chr18:34882182 [GRCh38]
Chr18:32462146 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2131G>A (p.Gly711Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV002003424] Chr18:34879688 [GRCh38]
Chr18:32459652 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1(chr18:31341181-32407667) copy number gain not specified [RCV002052630] Chr18:31341181..32407667 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2156G>A (p.Gly719Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV002004120] Chr18:34879713 [GRCh38]
Chr18:32459677 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.4A>T (p.Ile2Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV001965363] Chr18:34755980 [GRCh38]
Chr18:32335944 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.497G>A (p.Arg166Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV002002292] Chr18:34812007 [GRCh38]
Chr18:32391971 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.88A>T (p.Ile30Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV001964953] Chr18:34765981 [GRCh38]
Chr18:32345945 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1028A>G (p.Asn343Ser) single nucleotide variant DTNA-related disorder [RCV003408068]|Left ventricular noncompaction 1 [RCV002022616]|not specified [RCV004046059] Chr18:34827619 [GRCh38]
Chr18:32407583 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1915A>G (p.Asn639Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV001911063]|not specified [RCV002222740] Chr18:34877730 [GRCh38]
Chr18:32457694 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.362+14del deletion Left ventricular noncompaction 1 [RCV001910939] Chr18:34794264 [GRCh38]
Chr18:32374228 [GRCh37]
Chr18:18q12.1		 likely benign
GRCh37/hg19 18p11.32-q23(chr18:136226-78014123) copy number gain not specified [RCV002052616] Chr18:136226..78014123 [GRCh37]
Chr18:18p11.32-q23		 pathogenic
NM_001386795.1(DTNA):c.1529A>G (p.Asn510Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV001945444] Chr18:34851925 [GRCh38]
Chr18:32431889 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1345T>C (p.Cys449Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV001986706] Chr18:34838836 [GRCh38]
Chr18:32418800 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1259A>G (p.Gln420Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV001908098] Chr18:34838750 [GRCh38]
Chr18:32418714 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1444C>G (p.Gln482Glu) single nucleotide variant Left ventricular noncompaction 1 [RCV001948104] Chr18:34851840 [GRCh38]
Chr18:32431804 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1853A>G (p.Gln618Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV001967113] Chr18:34875348 [GRCh38]
Chr18:32455312 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1347-2A>T single nucleotide variant Left ventricular noncompaction 1 [RCV001889415] Chr18:34848294 [GRCh38]
Chr18:32428258 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1748A>G (p.Gln583Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV001945840] Chr18:34875243 [GRCh38]
Chr18:32455207 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1637G>T (p.Arg546Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV001986277] Chr18:34858389 [GRCh38]
Chr18:32438353 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1820C>T (p.Ala607Val) single nucleotide variant Left ventricular noncompaction 1 [RCV002001320] Chr18:34875315 [GRCh38]
Chr18:32455279 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.403G>T (p.Ala135Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV001979510] Chr18:34806259 [GRCh38]
Chr18:32386223 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.824A>G (p.His275Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV001943385] Chr18:34818278 [GRCh38]
Chr18:32398242 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2186A>G (p.Tyr729Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV001888749] Chr18:34882092 [GRCh38]
Chr18:32462056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.284G>A (p.Arg95Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV001923219] Chr18:34794172 [GRCh38]
Chr18:32374136 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1309G>A (p.Gly437Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV002034413] Chr18:34838800 [GRCh38]
Chr18:32418764 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1414G>A (p.Ala472Thr) single nucleotide variant DTNA-related disorder [RCV004752071]|Left ventricular noncompaction 1 [RCV001887983] Chr18:34848363 [GRCh38]
Chr18:32428327 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.682C>T (p.Leu228=) single nucleotide variant Left ventricular noncompaction 1 [RCV001941781] Chr18:34815987 [GRCh38]
Chr18:32395951 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1249A>G (p.Lys417Glu) single nucleotide variant Left ventricular noncompaction 1 [RCV001900315] Chr18:34838167 [GRCh38]
Chr18:32418131 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.163A>G (p.Ile55Val) single nucleotide variant Left ventricular noncompaction 1 [RCV002051427] Chr18:34794051 [GRCh38]
Chr18:32374015 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.298C>T (p.His100Tyr) single nucleotide variant Left ventricular noncompaction 1 [RCV002029688] Chr18:34794186 [GRCh38]
Chr18:32374150 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.381T>G (p.Ile127Met) single nucleotide variant Left ventricular noncompaction 1 [RCV002011959] Chr18:34806237 [GRCh38]
Chr18:32386201 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1366C>T (p.Arg456Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV001919545] Chr18:34848315 [GRCh38]
Chr18:32428279 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2181T>A (p.Asp727Glu) single nucleotide variant Left ventricular noncompaction 1 [RCV001866640] Chr18:34882087 [GRCh38]
Chr18:32462051 [GRCh37]
Chr18:18q12.1		 uncertain significance
NC_000018.9:g.(?_32391903)_(32464709_?)dup duplication Left ventricular noncompaction 1 [RCV001925017] Chr18:32391903..32464709 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.172G>T (p.Val58Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV001917903] Chr18:34794060 [GRCh38]
Chr18:32374024 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.368G>A (p.Gly123Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV001925159] Chr18:34806224 [GRCh38]
Chr18:32386188 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1873G>A (p.Gly625Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV001992844] Chr18:34875368 [GRCh38]
Chr18:32455332 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2172G>C (p.Glu724Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV001991553] Chr18:34882078 [GRCh38]
Chr18:32462042 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1442C>A (p.Pro481His) single nucleotide variant Left ventricular noncompaction 1 [RCV002033563] Chr18:34851838 [GRCh38]
Chr18:32431802 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1756G>A (p.Gly586Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV001905107] Chr18:34875251 [GRCh38]
Chr18:32455215 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1729A>G (p.Met577Val) single nucleotide variant Left ventricular noncompaction 1 [RCV002035722]|not specified [RCV004046145] Chr18:34864048 [GRCh38]
Chr18:32444012 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.236C>T (p.Ser79Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV002049844] Chr18:34794124 [GRCh38]
Chr18:32374088 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2295+10T>A single nucleotide variant Left ventricular noncompaction 1 [RCV002126556] Chr18:34882211 [GRCh38]
Chr18:32462175 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.264T>C (p.Ile88=) single nucleotide variant Left ventricular noncompaction 1 [RCV002112144] Chr18:34794152 [GRCh38]
Chr18:32374116 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.633C>T (p.Asp211=) single nucleotide variant Left ventricular noncompaction 1 [RCV002073860] Chr18:34815938 [GRCh38]
Chr18:32395902 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2330A>G single nucleotide variant DTNA-related disorder [RCV003903426]|Left ventricular noncompaction 1 [RCV002147047] Chr18:34825263 [GRCh38]
Chr18:32405227 [GRCh37]
Chr18:18q12.1		 benign|likely benign
NM_001386795.1(DTNA):c.362+18G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002190875] Chr18:34794268 [GRCh38]
Chr18:32374232 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1851G>A (p.Pro617=) single nucleotide variant Left ventricular noncompaction 1 [RCV002109094] Chr18:34875346 [GRCh38]
Chr18:32455310 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1593G>A (p.Thr531=) single nucleotide variant Left ventricular noncompaction 1 [RCV002208439] Chr18:34858345 [GRCh38]
Chr18:32438309 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.695C>T (p.Ala232Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003101270]|not provided [RCV002223439] Chr18:34816000 [GRCh38]
Chr18:32395964 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.96C>G (p.Leu32=) single nucleotide variant Left ventricular noncompaction 1 [RCV002084829] Chr18:34765989 [GRCh38]
Chr18:32345953 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.358G>C (p.Asp120His) single nucleotide variant not provided [RCV002223524] Chr18:34794246 [GRCh38]
Chr18:32374210 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+14_1743+15delinsAT indel Left ventricular noncompaction 1 [RCV002189589] Chr18:34864076..34864077 [GRCh38]
Chr18:32444040..32444041 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.660G>T (p.Gln220His) single nucleotide variant Left ventricular noncompaction 1 [RCV003509704]|not provided [RCV002223457] Chr18:34815965 [GRCh38]
Chr18:32395929 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.448+10T>G single nucleotide variant Left ventricular noncompaction 1 [RCV002075236] Chr18:34806314 [GRCh38]
Chr18:32386278 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1532+17G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002091325] Chr18:34851945 [GRCh38]
Chr18:32431909 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2118G>A (p.Gly706=) single nucleotide variant Left ventricular noncompaction 1 [RCV002166086] Chr18:34879675 [GRCh38]
Chr18:32459639 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.496C>T (p.Arg166Ter) single nucleotide variant not provided [RCV002224403] Chr18:34812006 [GRCh38]
Chr18:32391970 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.877-16T>G single nucleotide variant Left ventricular noncompaction 1 [RCV002173794] Chr18:34820775 [GRCh38]
Chr18:32400739 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1647-16G>T single nucleotide variant Left ventricular noncompaction 1 [RCV002074814] Chr18:34863950 [GRCh38]
Chr18:32443914 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.574C>T (p.Gln192Ter) single nucleotide variant not provided [RCV002223485] Chr18:34812084 [GRCh38]
Chr18:32392048 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2093C>T (p.Ala698Val) single nucleotide variant Left ventricular noncompaction 1 [RCV002127952] Chr18:34879650 [GRCh38]
Chr18:32459614 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2332C>A single nucleotide variant Left ventricular noncompaction 1 [RCV002112783] Chr18:34825261 [GRCh38]
Chr18:32405225 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.750T>C (p.Ser250=) single nucleotide variant Left ventricular noncompaction 1 [RCV002117070] Chr18:34818204 [GRCh38]
Chr18:32398168 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1085+11A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002197002] Chr18:34827687 [GRCh38]
Chr18:32407651 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1857C>T (p.Asp619=) single nucleotide variant Left ventricular noncompaction 1 [RCV002197609] Chr18:34875352 [GRCh38]
Chr18:32455316 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1821G>C (p.Ala607=) single nucleotide variant Left ventricular noncompaction 1 [RCV002194571] Chr18:34875316 [GRCh38]
Chr18:32455280 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1903+19T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002195663] Chr18:34875417 [GRCh38]
Chr18:32455381 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.603+20A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002080391] Chr18:34812133 [GRCh38]
Chr18:32392097 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1001+10C>A single nucleotide variant Left ventricular noncompaction 1 [RCV002125531] Chr18:34820925 [GRCh38]
Chr18:32400889 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.*2601del deletion not provided [RCV002224439] Chr18:34890332 [GRCh38]
Chr18:32470296 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.449-19T>G single nucleotide variant Left ventricular noncompaction 1 [RCV002175436] Chr18:34811940 [GRCh38]
Chr18:32391904 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1646+17A>T single nucleotide variant Left ventricular noncompaction 1 [RCV002100563] Chr18:34858415 [GRCh38]
Chr18:32438379 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2320T>A single nucleotide variant Left ventricular noncompaction 1 [RCV002100596] Chr18:34825273 [GRCh38]
Chr18:32405237 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2265G>A (p.Leu755=) single nucleotide variant Left ventricular noncompaction 1 [RCV002183905] Chr18:34882171 [GRCh38]
Chr18:32462135 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2163-17C>T single nucleotide variant Left ventricular noncompaction 1 [RCV002162506] Chr18:34882052 [GRCh38]
Chr18:32462016 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.363-12_363-8del deletion Left ventricular noncompaction 1 [RCV002216400] Chr18:34806206..34806210 [GRCh38]
Chr18:32386170..32386174 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1993+9C>T single nucleotide variant Left ventricular noncompaction 1 [RCV002158424] Chr18:34877817 [GRCh38]
Chr18:32457781 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1993+11G>T single nucleotide variant Left ventricular noncompaction 1 [RCV002158425] Chr18:34877819 [GRCh38]
Chr18:32457783 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.363-17C>A single nucleotide variant Left ventricular noncompaction 1 [RCV002157193] Chr18:34806202 [GRCh38]
Chr18:32386166 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1939G>T (p.Ala647Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV002182839] Chr18:34877754 [GRCh38]
Chr18:32457718 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1002-2338C>T single nucleotide variant Left ventricular noncompaction 1 [RCV002120223] Chr18:34825255 [GRCh38]
Chr18:32405219 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.187C>A (p.Arg63=) single nucleotide variant Left ventricular noncompaction 1 [RCV002122164] Chr18:34794075 [GRCh38]
Chr18:32374039 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.92G>A (p.Arg31Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV002202836] Chr18:34765985 [GRCh38]
Chr18:32345949 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1483G>A (p.Ala495Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV003119356] Chr18:34851879 [GRCh38]
Chr18:32431843 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.148+8T>C single nucleotide variant not specified [RCV003236497] Chr18:34766049 [GRCh38]
Chr18:32346013 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1646+17A>G single nucleotide variant not specified [RCV003236498] Chr18:34858415 [GRCh38]
Chr18:32438379 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1649A>G (p.Gln550Arg) single nucleotide variant not provided [RCV002261588] Chr18:34863968 [GRCh38]
Chr18:32443932 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_032975.4(DTNA):c.-126-85981G>C single nucleotide variant not provided [RCV002283235] Chr18:34593487 [GRCh38]
Chr18:32173451 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1904-8C>G single nucleotide variant Left ventricular noncompaction 1 [RCV002681436] Chr18:34877711 [GRCh38]
Chr18:32457675 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.977A>G (p.Lys326Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV002299565] Chr18:34820891 [GRCh38]
Chr18:32400855 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.104A>G (p.Tyr35Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV002295016] Chr18:34765997 [GRCh38]
Chr18:32345961 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2194C>G (p.Pro732Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV002301984] Chr18:34882100 [GRCh38]
Chr18:32462064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.320C>A (p.Ser107Tyr) single nucleotide variant Left ventricular noncompaction 1 [RCV002302886] Chr18:34794208 [GRCh38]
Chr18:32374172 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2191C>T (p.Gln731Ter) single nucleotide variant Left ventricular noncompaction 1 [RCV002816425] Chr18:34882097 [GRCh38]
Chr18:32462061 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2020G>A (p.Val674Met) single nucleotide variant Left ventricular noncompaction 1 [RCV002972249] Chr18:34879577 [GRCh38]
Chr18:32459541 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.770G>A (p.Arg257Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV002904977] Chr18:34818224 [GRCh38]
Chr18:32398188 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2280A>G (p.Gln760=) single nucleotide variant Left ventricular noncompaction 1 [RCV002819480] Chr18:34882186 [GRCh38]
Chr18:32462150 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1532+18T>A single nucleotide variant Left ventricular noncompaction 1 [RCV002974912] Chr18:34851946 [GRCh38]
Chr18:32431910 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.821G>A (p.Gly274Glu) single nucleotide variant Left ventricular noncompaction 1 [RCV002975485] Chr18:34818275 [GRCh38]
Chr18:32398239 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.961C>G (p.Pro321Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV002819479] Chr18:34820875 [GRCh38]
Chr18:32400839 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1894T>A (p.Phe632Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV002755850] Chr18:34875389 [GRCh38]
Chr18:32455353 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.79C>T (p.Leu27=) single nucleotide variant Left ventricular noncompaction 1 [RCV002858524] Chr18:34765972 [GRCh38]
Chr18:32345936 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1971T>A (p.Ser657=) single nucleotide variant Left ventricular noncompaction 1 [RCV002690224]|not specified [RCV004017946] Chr18:34877786 [GRCh38]
Chr18:32457750 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1746T>C (p.Thr582=) single nucleotide variant Left ventricular noncompaction 1 [RCV002613822] Chr18:34875241 [GRCh38]
Chr18:32455205 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.443T>C (p.Leu148Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV003079452] Chr18:34806299 [GRCh38]
Chr18:32386263 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1993+5G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002592941] Chr18:34877813 [GRCh38]
Chr18:32457777 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1566A>G (p.Leu522=) single nucleotide variant Left ventricular noncompaction 1 [RCV003039206] Chr18:34858318 [GRCh38]
Chr18:32438282 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1355A>G (p.Glu452Gly) single nucleotide variant Left ventricular noncompaction 1 [RCV002620999] Chr18:34848304 [GRCh38]
Chr18:32428268 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.78T>C (p.Asp26=) single nucleotide variant Left ventricular noncompaction 1 [RCV002780628] Chr18:34765971 [GRCh38]
Chr18:32345935 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.813C>T (p.Phe271=) single nucleotide variant Left ventricular noncompaction 1 [RCV003036184] Chr18:34818267 [GRCh38]
Chr18:32398231 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1347C>T (p.Cys449=) single nucleotide variant Left ventricular noncompaction 1 [RCV002592927] Chr18:34848296 [GRCh38]
Chr18:32428260 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.261T>C (p.Thr87=) single nucleotide variant Left ventricular noncompaction 1 [RCV003078294] Chr18:34794149 [GRCh38]
Chr18:32374113 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.293C>T (p.Thr98Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003038514] Chr18:34794181 [GRCh38]
Chr18:32374145 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.605A>G (p.Lys202Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV002885494] Chr18:34815910 [GRCh38]
Chr18:32395874 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1176-2A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002781413] Chr18:34838092 [GRCh38]
Chr18:32418056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.15T>A (p.Ser5Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV002886606] Chr18:34755991 [GRCh38]
Chr18:32335955 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1560T>C (p.Leu520=) single nucleotide variant Left ventricular noncompaction 1 [RCV003058498] Chr18:34858312 [GRCh38]
Chr18:32438276 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2150T>C (p.Met717Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV002668073] Chr18:34879707 [GRCh38]
Chr18:32459671 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1743+17A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002667982] Chr18:34864079 [GRCh38]
Chr18:32444043 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1248C>T (p.Gly416=) single nucleotide variant Left ventricular noncompaction 1 [RCV003023632] Chr18:34838166 [GRCh38]
Chr18:32418130 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.590G>C (p.Cys197Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV003143548]|not specified [RCV004128190] Chr18:34812100 [GRCh38]
Chr18:32392064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.710-11T>G single nucleotide variant Left ventricular noncompaction 1 [RCV003040208] Chr18:34818153 [GRCh38]
Chr18:32398117 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.436G>C (p.Asp146His) single nucleotide variant Left ventricular noncompaction 1 [RCV002786717] Chr18:34806292 [GRCh38]
Chr18:32386256 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1776C>G (p.Pro592=) single nucleotide variant Left ventricular noncompaction 1 [RCV002790850] Chr18:34875271 [GRCh38]
Chr18:32455235 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.4A>G (p.Ile2Val) single nucleotide variant Left ventricular noncompaction 1 [RCV002710351] Chr18:34755980 [GRCh38]
Chr18:32335944 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.991G>A (p.Ala331Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV002644453] Chr18:34820905 [GRCh38]
Chr18:32400869 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1002-7_1002-3del microsatellite Left ventricular noncompaction 1 [RCV002928393] Chr18:34827580..34827584 [GRCh38]
Chr18:32407544..32407548 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1968C>T (p.Ser656=) single nucleotide variant Left ventricular noncompaction 1 [RCV002667565] Chr18:34877783 [GRCh38]
Chr18:32457747 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.604-16G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002875855] Chr18:34815893 [GRCh38]
Chr18:32395857 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.514C>T (p.Arg172Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV002790795] Chr18:34812024 [GRCh38]
Chr18:32391988 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2068C>T (p.Pro690Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV002643356] Chr18:34879625 [GRCh38]
Chr18:32459589 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2262C>T (p.Tyr754=) single nucleotide variant Left ventricular noncompaction 1 [RCV002649946] Chr18:34882168 [GRCh38]
Chr18:32462132 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.31A>G (p.Thr11Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV003065279] Chr18:34756007 [GRCh38]
Chr18:32335971 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.780G>A (p.Gln260=) single nucleotide variant Left ventricular noncompaction 1 [RCV003090061] Chr18:34818234 [GRCh38]
Chr18:32398198 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2115del (p.Tyr707fs) deletion Left ventricular noncompaction 1 [RCV003028964] Chr18:34879672 [GRCh38]
Chr18:32459636 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1178C>G (p.Ser393Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV002937645] Chr18:34838096 [GRCh38]
Chr18:32418060 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1671G>A (p.Gln557=) single nucleotide variant Left ventricular noncompaction 1 [RCV002937206] Chr18:34863990 [GRCh38]
Chr18:32443954 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.507A>G (p.Gln169=) single nucleotide variant Left ventricular noncompaction 1 [RCV002939075] Chr18:34812017 [GRCh38]
Chr18:32391981 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1589C>A (p.Pro530His) single nucleotide variant Left ventricular noncompaction 1 [RCV002581570] Chr18:34858341 [GRCh38]
Chr18:32438305 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1002-19A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002578430] Chr18:34827574 [GRCh38]
Chr18:32407538 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2173G>A (p.Asp725Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV002600338] Chr18:34882079 [GRCh38]
Chr18:32462043 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.102C>T (p.Thr34=) single nucleotide variant Left ventricular noncompaction 1 [RCV002770431] Chr18:34765995 [GRCh38]
Chr18:32345959 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.754A>T (p.Met252Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV002647528] Chr18:34818208 [GRCh38]
Chr18:32398172 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.362+7A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002631118] Chr18:34794257 [GRCh38]
Chr18:32374221 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.204del (p.Asn68fs) deletion Left ventricular noncompaction 1 [RCV003046288] Chr18:34794092 [GRCh38]
Chr18:32374056 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1744-19A>G single nucleotide variant Left ventricular noncompaction 1 [RCV002631127] Chr18:34875220 [GRCh38]
Chr18:32455184 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1347-19_1347-17del microsatellite Left ventricular noncompaction 1 [RCV002628159] Chr18:34848274..34848276 [GRCh38]
Chr18:32428238..32428240 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1743G>A (p.Lys581=) single nucleotide variant Left ventricular noncompaction 1 [RCV002835244] Chr18:34864062 [GRCh38]
Chr18:32444026 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1994-5G>A single nucleotide variant Left ventricular noncompaction 1 [RCV002631372] Chr18:34879546 [GRCh38]
Chr18:32459510 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2001G>A (p.Gly667=) single nucleotide variant Left ventricular noncompaction 1 [RCV003066246] Chr18:34879558 [GRCh38]
Chr18:32459522 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.98C>T (p.Ser33Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV002603508] Chr18:34765991 [GRCh38]
Chr18:32345955 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1801C>A (p.Pro601Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV002603847] Chr18:34875296 [GRCh38]
Chr18:32455260 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.238C>T (p.Arg80Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV003068116] Chr18:34794126 [GRCh38]
Chr18:32374090 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1498A>T (p.Arg500Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV002944125] Chr18:34851894 [GRCh38]
Chr18:32431858 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1646+11G>C single nucleotide variant Left ventricular noncompaction 1 [RCV003069190] Chr18:34858409 [GRCh38]
Chr18:32438373 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1904-17T>C single nucleotide variant Left ventricular noncompaction 1 [RCV002634987] Chr18:34877702 [GRCh38]
Chr18:32457666 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1572T>C (p.His524=) single nucleotide variant Left ventricular noncompaction 1 [RCV002585109] Chr18:34858324 [GRCh38]
Chr18:32438288 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.317A>T (p.Gln106Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV002589172] Chr18:34794205 [GRCh38]
Chr18:32374169 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.364G>A (p.Glu122Lys) single nucleotide variant Left ventricular noncompaction 1 [RCV003072636] Chr18:34806220 [GRCh38]
Chr18:32386184 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2310T>C (p.Gly770=) single nucleotide variant Left ventricular noncompaction 1 [RCV002610057] Chr18:34884742 [GRCh38]
Chr18:32464706 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.951C>G (p.His317Gln) single nucleotide variant not specified [RCV004328550] Chr18:34820865 [GRCh38]
Chr18:32400829 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2216A>T (p.Asn739Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003146873] Chr18:34882122 [GRCh38]
Chr18:32462086 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1219G>A (p.Ala407Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV003221341] Chr18:34838137 [GRCh38]
Chr18:32418101 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.883C>T (p.Pro295Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV003146872] Chr18:34820797 [GRCh38]
Chr18:32400761 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.486G>A (p.Met162Ile) single nucleotide variant not specified [RCV004266971] Chr18:34811996 [GRCh38]
Chr18:32391960 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1001+125dup duplication not provided [RCV003227380] Chr18:34821030..34821031 [GRCh38]
Chr18:32400994..32400995 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.604-7dup duplication not provided [RCV003222946] Chr18:34815895..34815896 [GRCh38]
Chr18:32395859..32395860 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1612A>G (p.Asn538Asp) single nucleotide variant not specified [RCV004270297] Chr18:34858364 [GRCh38]
Chr18:32438328 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1561C>T (p.Arg521Trp) single nucleotide variant Left ventricular noncompaction 1 [RCV003224670]|not specified [RCV003235812] Chr18:34858313 [GRCh38]
Chr18:32438277 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.689G>A (p.Arg230Gln) single nucleotide variant not specified [RCV004278697] Chr18:34815994 [GRCh38]
Chr18:32395958 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1265del (p.Ser422fs) deletion Primary dilated cardiomyopathy [RCV003319259] Chr18:34838756 [GRCh38]
Chr18:32418720 [GRCh37]
Chr18:18q12.1		 likely pathogenic
NM_001386795.1(DTNA):c.1454G>T (p.Ser485Ile) single nucleotide variant not specified [RCV004347336] Chr18:34851850 [GRCh38]
Chr18:32431814 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1646+18T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003619838]|not specified [RCV003331613] Chr18:34858416 [GRCh38]
Chr18:32438380 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.647A>T (p.Asp216Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003509813]|not specified [RCV004353632] Chr18:34815952 [GRCh38]
Chr18:32395916 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1999G>A (p.Gly667Arg) single nucleotide variant not provided [RCV003421629] Chr18:34879556 [GRCh38]
Chr18:32459520 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.442T>A (p.Leu148Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003455825] Chr18:34806298 [GRCh38]
Chr18:32386262 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.602A>G (p.Gln201Arg) single nucleotide variant Hypertrophic cardiomyopathy [RCV003458257] Chr18:34812112 [GRCh38]
Chr18:32392076 [GRCh37]
Chr18:18q12.1		 uncertain significance
GRCh37/hg19 18q12.1-12.3(chr18:26595964-38643072)x1 copy number loss not provided [RCV003483335] Chr18:26595964..38643072 [GRCh37]
Chr18:18q12.1-12.3		 pathogenic
GRCh37/hg19 18q12.1(chr18:32019324-32389224)x3 copy number gain not provided [RCV003485182] Chr18:32019324..32389224 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1295A>C (p.Glu432Ala) single nucleotide variant not provided [RCV003480275] Chr18:34838786 [GRCh38]
Chr18:32418750 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1331G>A (p.Arg444Gln) single nucleotide variant DTNA-related disorder [RCV003422422]|Left ventricular noncompaction 1 [RCV003509820] Chr18:34838822 [GRCh38]
Chr18:32418786 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1167C>T (p.His389=) single nucleotide variant not provided [RCV003423067] Chr18:34829481 [GRCh38]
Chr18:32409445 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1886A>G (p.Gln629Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV003849334] Chr18:34875381 [GRCh38]
Chr18:32455345 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1253+9C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003509172] Chr18:34838180 [GRCh38]
Chr18:32418144 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.372T>C (p.His124=) single nucleotide variant Left ventricular noncompaction 1 [RCV003510708] Chr18:34806228 [GRCh38]
Chr18:32386192 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1051G>A (p.Val351Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003879664] Chr18:34827642 [GRCh38]
Chr18:32407606 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1001+12T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003510259] Chr18:34820927 [GRCh38]
Chr18:32400891 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1740A>G (p.Leu580=) single nucleotide variant Left ventricular noncompaction 1 [RCV003510908] Chr18:34864059 [GRCh38]
Chr18:32444023 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.271C>G (p.Gln91Glu) single nucleotide variant Left ventricular noncompaction 1 [RCV003509908] Chr18:34794159 [GRCh38]
Chr18:32374123 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.68-6C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003881661] Chr18:34765955 [GRCh38]
Chr18:32345919 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.684G>T (p.Leu228=) single nucleotide variant Left ventricular noncompaction 1 [RCV003510515] Chr18:34815989 [GRCh38]
Chr18:32395953 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2130T>A (p.Ser710Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV003509978] Chr18:34879687 [GRCh38]
Chr18:32459651 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2158G>A (p.Asp720Asn) single nucleotide variant Left ventricular noncompaction 1 [RCV003827862] Chr18:34879715 [GRCh38]
Chr18:32459679 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1995G>A (p.Glu665=) single nucleotide variant Left ventricular noncompaction 1 [RCV003509324] Chr18:34879552 [GRCh38]
Chr18:32459516 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.529C>T (p.Leu177=) single nucleotide variant Left ventricular noncompaction 1 [RCV003510128] Chr18:34812039 [GRCh38]
Chr18:32392003 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1435-3C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003511359] Chr18:34851828 [GRCh38]
Chr18:32431792 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1002-2340T>G single nucleotide variant Left ventricular noncompaction 1 [RCV003510896] Chr18:34825253 [GRCh38]
Chr18:32405217 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.206A>C (p.Asn69Thr) single nucleotide variant DTNA-related disorder [RCV004750905]|Left ventricular noncompaction 1 [RCV003511346]|not specified [RCV004621824] Chr18:34794094 [GRCh38]
Chr18:32374058 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.262A>G (p.Ile88Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003511348] Chr18:34794150 [GRCh38]
Chr18:32374114 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1253+18_1253+19delinsGT indel Left ventricular noncompaction 1 [RCV003511353] Chr18:34838189..34838190 [GRCh38]
Chr18:32418153..32418154 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.68-10C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003510996] Chr18:34765951 [GRCh38]
Chr18:32345915 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.255C>A (p.Leu85=) single nucleotide variant Left ventricular noncompaction 1 [RCV003510632] Chr18:34794143 [GRCh38]
Chr18:32374107 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2152C>T (p.Arg718Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV003828292] Chr18:34879709 [GRCh38]
Chr18:32459673 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1770C>T (p.Ser590=) single nucleotide variant Left ventricular noncompaction 1 [RCV003509874] Chr18:34875265 [GRCh38]
Chr18:32455229 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1896T>A (p.Phe632Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV003827832] Chr18:34875391 [GRCh38]
Chr18:32455355 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1532+1G>T single nucleotide variant Left ventricular noncompaction 1 [RCV003510706] Chr18:34851929 [GRCh38]
Chr18:32431893 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1744-11T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003827527] Chr18:34875228 [GRCh38]
Chr18:32455192 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.148+1G>A single nucleotide variant Left ventricular noncompaction 1 [RCV003511158] Chr18:34766042 [GRCh38]
Chr18:32346006 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2153G>T (p.Arg718Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV003833023] Chr18:34879710 [GRCh38]
Chr18:32459674 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.67+7A>G single nucleotide variant Left ventricular noncompaction 1 [RCV003620772] Chr18:34756050 [GRCh38]
Chr18:32336014 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.535A>G (p.Thr179Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV003619442] Chr18:34812045 [GRCh38]
Chr18:32392009 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1179T>G (p.Ser393=) single nucleotide variant Left ventricular noncompaction 1 [RCV003620001] Chr18:34838097 [GRCh38]
Chr18:32418061 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.560T>G (p.Phe187Cys) single nucleotide variant Left ventricular noncompaction 1 [RCV003832077] Chr18:34812070 [GRCh38]
Chr18:32392034 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.667G>T (p.Val223Phe) single nucleotide variant Left ventricular noncompaction 1 [RCV003620098] Chr18:34815972 [GRCh38]
Chr18:32395936 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1671G>C (p.Gln557His) single nucleotide variant Left ventricular noncompaction 1 [RCV003620322] Chr18:34863990 [GRCh38]
Chr18:32443954 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1347-6T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003620130] Chr18:34848290 [GRCh38]
Chr18:32428254 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.220A>G (p.Thr74Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV003619310] Chr18:34794108 [GRCh38]
Chr18:32374072 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.603+3dup duplication Left ventricular noncompaction 1 [RCV003619585] Chr18:34812115..34812116 [GRCh38]
Chr18:32392079..32392080 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.25G>C (p.Gly9Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV003619633] Chr18:34756001 [GRCh38]
Chr18:32335965 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1002-2319T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003620542] Chr18:34825274 [GRCh38]
Chr18:32405238 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1254-9C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003620264] Chr18:34838736 [GRCh38]
Chr18:32418700 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1317T>C (p.Tyr439=) single nucleotide variant Left ventricular noncompaction 1 [RCV003620922] Chr18:34838808 [GRCh38]
Chr18:32418772 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.196G>T (p.Ala66Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV003620925] Chr18:34794084 [GRCh38]
Chr18:32374048 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.552T>G (p.Gly184=) single nucleotide variant Left ventricular noncompaction 1 [RCV003816398] Chr18:34812062 [GRCh38]
Chr18:32392026 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.558A>T (p.Ser186=) single nucleotide variant Left ventricular noncompaction 1 [RCV003619332] Chr18:34812068 [GRCh38]
Chr18:32392032 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1776C>A (p.Pro592=) single nucleotide variant Left ventricular noncompaction 1 [RCV003619381] Chr18:34875271 [GRCh38]
Chr18:32455235 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.709+8G>C single nucleotide variant Left ventricular noncompaction 1 [RCV003620410] Chr18:34816022 [GRCh38]
Chr18:32395986 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1676T>C (p.Met559Thr) single nucleotide variant Left ventricular noncompaction 1 [RCV003619446] Chr18:34863995 [GRCh38]
Chr18:32443959 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2207A>G (p.Asn736Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV003619330] Chr18:34882113 [GRCh38]
Chr18:32462077 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2114C>G (p.Pro705Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV003619414] Chr18:34879671 [GRCh38]
Chr18:32459635 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1085+19A>T single nucleotide variant Left ventricular noncompaction 1 [RCV003855888] Chr18:34827695 [GRCh38]
Chr18:32407659 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.2251A>T (p.Met751Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV003619988] Chr18:34882157 [GRCh38]
Chr18:32462121 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.117C>A (p.Cys39Ter) single nucleotide variant Left ventricular noncompaction 1 [RCV003619203] Chr18:34766010 [GRCh38]
Chr18:32345974 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.710-5dup duplication Left ventricular noncompaction 1 [RCV003620376] Chr18:34818154..34818155 [GRCh38]
Chr18:32398118..32398119 [GRCh37]
Chr18:18q12.1		 benign
NM_001386795.1(DTNA):c.1344A>C (p.Ser448=) single nucleotide variant Left ventricular noncompaction 1 [RCV003836600] Chr18:34838835 [GRCh38]
Chr18:32418799 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1784C>T (p.Thr595Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003816475] Chr18:34875279 [GRCh38]
Chr18:32455243 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1646+13A>G single nucleotide variant Left ventricular noncompaction 1 [RCV003619227] Chr18:34858411 [GRCh38]
Chr18:32438375 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.353C>T (p.Ala118Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003814325] Chr18:34794241 [GRCh38]
Chr18:32374205 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1343C>T (p.Ser448Leu) single nucleotide variant Left ventricular noncompaction 1 [RCV003619173] Chr18:34838834 [GRCh38]
Chr18:32418798 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2140A>G (p.Thr714Ala) single nucleotide variant Left ventricular noncompaction 1 [RCV003845403] Chr18:34879697 [GRCh38]
Chr18:32459661 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.921G>A (p.Leu307=) single nucleotide variant Left ventricular noncompaction 1 [RCV003621379] Chr18:34820835 [GRCh38]
Chr18:32400799 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1836C>T (p.Thr612=) single nucleotide variant Left ventricular noncompaction 1 [RCV003864269] Chr18:34875331 [GRCh38]
Chr18:32455295 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1786A>G (p.Ile596Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003867074] Chr18:34875281 [GRCh38]
Chr18:32455245 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1814G>A (p.Arg605Gln) single nucleotide variant Left ventricular noncompaction 1 [RCV003845073] Chr18:34875309 [GRCh38]
Chr18:32455273 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.2086_2088dup (p.Phe696_Leu697insPhe) duplication Left ventricular noncompaction 1 [RCV003866783] Chr18:34879641..34879642 [GRCh38]
Chr18:32459605..32459606 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1792A>G (p.Arg598Gly) single nucleotide variant Left ventricular noncompaction 1 [RCV003621330] Chr18:34875287 [GRCh38]
Chr18:32455251 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.16G>C (p.Gly6Arg) single nucleotide variant Left ventricular noncompaction 1 [RCV003871890] Chr18:34755992 [GRCh38]
Chr18:32335956 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1532+7C>T single nucleotide variant Left ventricular noncompaction 1 [RCV003842855] Chr18:34851935 [GRCh38]
Chr18:32431899 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.754A>G (p.Met252Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003870133] Chr18:34818208 [GRCh38]
Chr18:32398172 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1810A>G (p.Ile604Val) single nucleotide variant Left ventricular noncompaction 1 [RCV003621006] Chr18:34875305 [GRCh38]
Chr18:32455269 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1619C>T (p.Thr540Ile) single nucleotide variant Left ventricular noncompaction 1 [RCV003621046] Chr18:34858371 [GRCh38]
Chr18:32438335 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.998T>G (p.Ile333Ser) single nucleotide variant Left ventricular noncompaction 1 [RCV003621195] Chr18:34820912 [GRCh38]
Chr18:32400876 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1002-2312T>C single nucleotide variant Left ventricular noncompaction 1 [RCV003621321] Chr18:34825281 [GRCh38]
Chr18:32405245 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1002-2337G>A single nucleotide variant Left ventricular noncompaction 1 [RCV003621500] Chr18:34825256 [GRCh38]
Chr18:32405220 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.9A>T (p.Glu3Asp) single nucleotide variant Left ventricular noncompaction 1 [RCV003822435] Chr18:34755985 [GRCh38]
Chr18:32335949 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.*2605C>T single nucleotide variant DTNA-related disorder [RCV003899693] Chr18:34890339 [GRCh38]
Chr18:32470303 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1085+9C>T single nucleotide variant DTNA-related disorder [RCV003894449] Chr18:34827685 [GRCh38]
Chr18:32407649 [GRCh37]
Chr18:18q12.1		 likely benign
NM_001386795.1(DTNA):c.1328T>G (p.Leu443Arg) single nucleotide variant DTNA-related disorder [RCV003934281] Chr18:34838819 [GRCh38]
Chr18:32418783 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.590G>T (p.Cys197Phe) single nucleotide variant not specified [RCV004379471] Chr18:34812100 [GRCh38]
Chr18:32392064 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1108T>A (p.Ser370Thr) single nucleotide variant DTNA-related disorder [RCV004730564] Chr18:34829422 [GRCh38]
Chr18:32409386 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.749G>A (p.Ser250Asn) single nucleotide variant DTNA-related disorder [RCV004731843] Chr18:34818203 [GRCh38]
Chr18:32398167 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1175G>A (p.Arg392His) single nucleotide variant DTNA-related disorder [RCV004752210] Chr18:34829489 [GRCh38]
Chr18:32409453 [GRCh37]
Chr18:18q12.1		 uncertain significance
NM_001386795.1(DTNA):c.1666G>A (p.Glu556Lys) AND MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, single nucleotide variant MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, AND WITH OR WITHOUT EPISODIC RHABDOMYOLYSIS 2 [RCV004765433]   pathogenic
NM_001386795.1(DTNA):c.1651_1671del (p.Lys552_Arg558del) deletion MYOPATHY WITH MYALGIA, INCREASED SERUM CREATINE KINASE, WITHOUT EPISODIC RHABDOMYOLYSIS 2 [RCV004765434]   pathogenic
NM_001386795.1(DTNA):c.1086-357C>T single nucleotide variant not provided [RCV004722657] Chr18:34829043 [GRCh38]
Chr18:32409007 [GRCh37]
Chr18:18q12.1		 likely benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:17858
Count of miRNA genes:1420
Interacting mature miRNAs:1912
Transcripts:ENST00000269190, ENST00000269191, ENST00000269192, ENST00000283365, ENST00000315456, ENST00000348997, ENST00000399097, ENST00000399113, ENST00000399121, ENST00000444659, ENST00000554864, ENST00000556414, ENST00000585446, ENST00000587723, ENST00000588125, ENST00000588506, ENST00000588684, ENST00000588771, ENST00000588949, ENST00000590412, ENST00000590598, ENST00000590727, ENST00000590831, ENST00000591182, ENST00000591816, ENST00000592114, ENST00000592449, ENST00000595022, ENST00000596745, ENST00000597599, ENST00000597674, ENST00000598142, ENST00000598334, ENST00000598774, ENST00000599844, ENST00000601125, ENST00000601632, ENST00000601895
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406948128GWAS597104_HPR interval QTL GWAS597104 (human)3e-11PR intervalPR interval (CMO:0000233)183482960734829608Human
407113120GWAS762096_Hmathematical ability QTL GWAS762096 (human)7e-11mathematical ability183477084234770843Human
407235427GWAS884403_Hbody height QTL GWAS884403 (human)2e-11body height (VT:0001253)body height (CMO:0000106)183473621034736211Human
406987429GWAS636405_Hmental development measurement QTL GWAS636405 (human)0.000006mental development measurement183465394234653943Human
407014181GWAS663157_Hchronotype measurement QTL GWAS663157 (human)3e-09chronotype measurement183472988234729883Human
407121929GWAS770905_Hmathematical ability QTL GWAS770905 (human)1e-11mathematical ability183477173234771733Human
407185738GWAS834714_Hcolor vision disorder QTL GWAS834714 (human)0.0000006color vision disorder183484866134848662Human
407103219GWAS752195_Hmathematical ability QTL GWAS752195 (human)5e-09mathematical ability183472716634727167Human
407104018GWAS752994_Hmathematical ability QTL GWAS752994 (human)6e-10mathematical ability183477084234770843Human
407005530GWAS654506_HTNF-related apoptosis-inducing ligand measurement QTL GWAS654506 (human)1e-09TNF-related apoptosis-inducing ligand measurement183463970634639707Human
406947833GWAS596809_HPR interval QTL GWAS596809 (human)7e-11PR intervalPR interval (CMO:0000233)183481929534819296Human
407322843GWAS971819_Heducational attainment QTL GWAS971819 (human)4e-10educational attainment183477662934776630Human
407315482GWAS964458_HCOVID-19, mortality QTL GWAS964458 (human)0.000005COVID-19, mortalityratio of deaths to total study population during a period of time (CMO:0001023)183455550734555508Human
407139994GWAS788970_Hcoronary artery calcification QTL GWAS788970 (human)0.000009coronary artery calcification183481228034812281Human
407005533GWAS654509_HTNF-related apoptosis-inducing ligand measurement QTL GWAS654509 (human)0.0000001TNF-related apoptosis-inducing ligand measurement183478761534787616Human

Markers in Region
D18S1133  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,098,605 - 32,098,798UniSTSGRCh37
Build 361830,352,603 - 30,352,796RGDNCBI36
Celera1828,906,862 - 28,907,058RGD
Cytogenetic Map18q12UniSTS
HuRef1828,957,460 - 28,957,658UniSTS
Marshfield Genetic Map1861.73RGD
Marshfield Genetic Map1861.73UniSTS
Genethon Genetic Map1861.2UniSTS
deCODE Assembly Map1855.88UniSTS
Stanford-G3 RH Map181114.0UniSTS
Whitehead-YAC Contig Map18 UniSTS
NCBI RH Map18389.7UniSTS
GeneMap99-G3 RH Map181114.0UniSTS
D18S1135  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,172,264 - 32,172,502UniSTSGRCh37
Build 361830,426,262 - 30,426,500RGDNCBI36
Celera1828,980,562 - 28,980,800RGD
Cytogenetic Map18q12UniSTS
HuRef1829,031,069 - 29,031,303UniSTS
Marshfield Genetic Map1861.73RGD
Marshfield Genetic Map1861.73UniSTS
Genethon Genetic Map1861.2UniSTS
deCODE Assembly Map1855.88UniSTS
Whitehead-YAC Contig Map18 UniSTS
SHGC-52539  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,170,434 - 32,170,674UniSTSGRCh37
Build 361830,424,432 - 30,424,672RGDNCBI36
Celera1828,978,732 - 28,978,972RGD
Cytogenetic Map18q12UniSTS
HuRef1829,029,239 - 29,029,479UniSTS
TNG Radiation Hybrid Map1811791.0UniSTS
GeneMap99-G3 RH Map181118.0UniSTS
G20674  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,470,764 - 32,470,923UniSTSGRCh37
Build 361830,724,762 - 30,724,921RGDNCBI36
Celera1829,279,052 - 29,279,211RGD
Cytogenetic Map18q12UniSTS
HuRef1829,329,618 - 29,329,777UniSTS
A006B16  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,470,764 - 32,470,923UniSTSGRCh37
Build 361830,724,762 - 30,724,921RGDNCBI36
Celera1829,279,052 - 29,279,211RGD
Cytogenetic Map18q12UniSTS
HuRef1829,329,618 - 29,329,777UniSTS
GeneMap99-GB4 RH Map18291.38UniSTS
D18S911E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,178,454 - 32,178,584UniSTSGRCh37
Build 361830,432,452 - 30,432,582RGDNCBI36
Celera1828,986,752 - 28,986,882RGD
Cytogenetic Map18q12UniSTS
HuRef1829,037,256 - 29,037,386UniSTS
GeneMap99-GB4 RH Map18289.37UniSTS
RH78470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,446,934 - 32,447,108UniSTSGRCh37
Build 361830,700,932 - 30,701,106RGDNCBI36
Celera1829,255,224 - 29,255,397RGD
Cytogenetic Map18q12UniSTS
HuRef1829,305,840 - 29,306,013UniSTS
GeneMap99-GB4 RH Map18268.95UniSTS
RH81068  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,469,226 - 32,469,428UniSTSGRCh37
Build 361830,723,224 - 30,723,426RGDNCBI36
Celera1829,277,514 - 29,277,716RGD
Cytogenetic Map18q12UniSTS
HuRef1829,328,080 - 29,328,282UniSTS
RH26327  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,448,566 - 32,448,729UniSTSGRCh37
Build 361830,702,564 - 30,702,727RGDNCBI36
Celera1829,256,854 - 29,257,017RGD
Cytogenetic Map18q12UniSTS
HuRef1829,307,471 - 29,307,634UniSTS
RH98997  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,471,399 - 32,471,527UniSTSGRCh37
Build 361830,725,397 - 30,725,525RGDNCBI36
Celera1829,279,687 - 29,279,815RGD
Cytogenetic Map18q12UniSTS
HuRef1829,330,253 - 29,330,381UniSTS
GeneMap99-GB4 RH Map18290.36UniSTS
RH36366  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,464,359 - 32,464,467UniSTSGRCh37
Build 361830,718,357 - 30,718,465RGDNCBI36
Celera1829,272,647 - 29,272,755RGD
Cytogenetic Map18q12UniSTS
RH12493  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,446,711 - 32,446,835UniSTSGRCh37
Build 361830,700,709 - 30,700,833RGDNCBI36
Celera1829,255,001 - 29,255,125RGD
Cytogenetic Map18q12UniSTS
HuRef1829,305,617 - 29,305,741UniSTS
RH46143  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,404,734 - 32,404,853UniSTSGRCh37
Build 361830,658,732 - 30,658,851RGDNCBI36
Celera1829,213,032 - 29,213,151RGD
Cytogenetic Map18q12UniSTS
HuRef1829,263,639 - 29,263,758UniSTS
RH103242  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,170,509 - 32,170,674UniSTSGRCh37
Build 361830,424,507 - 30,424,672RGDNCBI36
Celera1828,978,807 - 28,978,972RGD
Cytogenetic Map18q12UniSTS
HuRef1829,029,314 - 29,029,479UniSTS
GeneMap99-GB4 RH Map18287.96UniSTS
RH119683  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,088,049 - 32,088,398UniSTSGRCh37
Build 361830,342,047 - 30,342,396RGDNCBI36
Celera1828,896,284 - 28,896,633RGD
Cytogenetic Map18q12UniSTS
HuRef1828,946,882 - 28,947,231UniSTS
TNG Radiation Hybrid Map1811737.0UniSTS
RH124036  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,401,893 - 32,402,214UniSTSGRCh37
Build 361830,655,891 - 30,656,212RGDNCBI36
Celera1829,210,191 - 29,210,512RGD
Cytogenetic Map18q12UniSTS
HuRef1829,260,798 - 29,261,119UniSTS
TNG Radiation Hybrid Map1811867.0UniSTS
RH123411  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,382,346 - 32,382,648UniSTSGRCh37
Build 361830,636,344 - 30,636,646RGDNCBI36
Celera1829,190,644 - 29,190,946RGD
Cytogenetic Map18q12UniSTS
HuRef1829,241,270 - 29,241,572UniSTS
TNG Radiation Hybrid Map1811855.0UniSTS
D18S104E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,417,186 - 32,417,430UniSTSGRCh37
GRCh371832,417,239 - 32,417,297UniSTSGRCh37
Build 361830,671,237 - 30,671,295RGDNCBI36
Celera1829,225,484 - 29,225,728UniSTS
Celera1829,225,537 - 29,225,595RGD
Cytogenetic Map18q12UniSTS
HuRef1829,276,144 - 29,276,202UniSTS
HuRef1829,276,091 - 29,276,335UniSTS
TNG Radiation Hybrid Map1811896.0UniSTS
Stanford-G3 RH Map181126.0UniSTS
NCBI RH Map18391.2UniSTS
GeneMap99-G3 RH Map181126.0UniSTS
D18S522  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,416,173 - 32,416,291UniSTSGRCh37
Build 361830,670,171 - 30,670,289RGDNCBI36
Celera1829,224,471 - 29,224,589RGD
Cytogenetic Map18q12UniSTS
HuRef1829,275,078 - 29,275,196UniSTS
D18S892E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,413,317 - 32,413,445UniSTSGRCh37
Build 361830,667,315 - 30,667,443RGDNCBI36
Celera1829,221,615 - 29,221,743RGD
Cytogenetic Map18q12UniSTS
HuRef1829,272,222 - 29,272,350UniSTS
SHGC-150924  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,098,609 - 32,098,901UniSTSGRCh37
Build 361830,352,607 - 30,352,899RGDNCBI36
Celera1828,906,866 - 28,907,161RGD
Cytogenetic Map18q12UniSTS
HuRef1828,957,464 - 28,957,761UniSTS
TNG Radiation Hybrid Map1811744.0UniSTS
TNG Radiation Hybrid Map559523.0UniSTS
RH66470  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,377,339 - 32,377,576UniSTSGRCh37
Build 361830,631,337 - 30,631,574RGDNCBI36
Celera1829,185,637 - 29,185,874RGD
Cytogenetic Map18q12UniSTS
HuRef1829,236,263 - 29,236,500UniSTS
GeneMap99-GB4 RH Map18271.14UniSTS
HSC03H042  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,447,115 - 32,447,254UniSTSGRCh37
Build 361830,701,113 - 30,701,252RGDNCBI36
Celera1829,255,404 - 29,255,543RGD
Cytogenetic Map18q12UniSTS
HuRef1829,306,020 - 29,306,159UniSTS
Whitehead-RH Map18284.0UniSTS
WI-21186  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,469,103 - 32,469,367UniSTSGRCh37
Build 361830,723,101 - 30,723,365RGDNCBI36
Celera1829,277,391 - 29,277,655RGD
Cytogenetic Map18q12UniSTS
HuRef1829,327,957 - 29,328,221UniSTS
Whitehead-RH Map18284.1UniSTS
SHGC-37630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,122,486 - 32,122,635UniSTSGRCh37
Build 361830,376,484 - 30,376,633RGDNCBI36
Celera1828,930,751 - 28,930,900RGD
Cytogenetic Map18q12UniSTS
HuRef1828,981,349 - 28,981,498UniSTS
Stanford-G3 RH Map181122.0UniSTS
NCBI RH Map18390.7UniSTS
GeneMap99-G3 RH Map181122.0UniSTS
IB641  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,427,624 - 32,427,855UniSTSGRCh37
Build 361830,681,622 - 30,681,853RGDNCBI36
Celera1829,235,922 - 29,236,153RGD
Cytogenetic Map18q12UniSTS
HuRef1829,286,529 - 29,286,760UniSTS
GeneMap99-GB4 RH Map18271.89UniSTS
Whitehead-RH Map18265.6UniSTS
NCBI RH Map18369.8UniSTS
SGC38125  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,471,455 - 32,471,739UniSTSGRCh37
Build 361830,725,453 - 30,725,737RGDNCBI36
Celera1829,279,743 - 29,280,027RGD
Cytogenetic Map18q12UniSTS
HuRef1829,330,309 - 29,330,593UniSTS
Whitehead-RH Map18284.1UniSTS
RH66177  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,448,522 - 32,448,678UniSTSGRCh37
Build 361830,702,520 - 30,702,676RGDNCBI36
Celera1829,256,810 - 29,256,966RGD
Cytogenetic Map18q12UniSTS
HuRef1829,307,427 - 29,307,583UniSTS
GeneMap99-GB4 RH Map18271.02UniSTS
NCBI RH Map18369.8UniSTS
WI-14278  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,470,876 - 32,471,025UniSTSGRCh37
Build 361830,724,874 - 30,725,023RGDNCBI36
Celera1829,279,164 - 29,279,313RGD
Cytogenetic Map18q12UniSTS
HuRef1829,329,730 - 29,329,879UniSTS
Whitehead-RH Map18283.1UniSTS
D18S891  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,405,121 - 32,405,374UniSTSGRCh37
Build 361830,659,119 - 30,659,372RGDNCBI36
Celera1829,213,419 - 29,213,672RGD
Cytogenetic Map18q12UniSTS
HuRef1829,264,026 - 29,264,279UniSTS
Whitehead-YAC Contig Map18 UniSTS
WI-13334  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371832,427,783 - 32,427,908UniSTSGRCh37
Build 361830,681,781 - 30,681,906RGDNCBI36
Celera1829,236,081 - 29,236,206RGD
Cytogenetic Map18q12UniSTS
HuRef1829,286,688 - 29,286,813UniSTS
GeneMap99-GB4 RH Map18271.77UniSTS
Whitehead-RH Map18265.3UniSTS
D6S1400E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12UniSTS
D18S104E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12UniSTS
TNG Radiation Hybrid Map1811896.0UniSTS
Stanford-G3 RH Map181126.0UniSTS
NCBI RH Map18391.2UniSTS
GeneMap99-G3 RH Map181126.0UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2377 2788 2235 4960 1725 2338 5 622 1708 465 2259 7027 6237 51 3730 841 1717 1603 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009201 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001128175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198939 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198941 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198942 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198943 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198944 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001198945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386754 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386755 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386758 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386761 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386764 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386765 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386767 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386772 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386773 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386774 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386775 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386776 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386777 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001386795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032975 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032978 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032979 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032980 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_032981 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025575 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017025599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024451096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437316 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047437340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318240 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318241 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318243 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318246 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318247 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318248 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318249 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318259 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318263 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054318264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753153 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753157 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753158 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001753163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_002958166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209102 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC009277 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC013290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC022601 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005231 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI368045 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI670964 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ009668 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK054766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291156 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295732 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295789 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296450 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315215 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005300 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC033969 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC047095 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG250424 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG705393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI668892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT006937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX103860 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CF457303 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA073612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA142282 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA197970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA398530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC327958 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN991561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ535564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FJ535565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R13506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R20627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  R45531 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  T80537 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26742 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U26744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46745 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46746 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000269192   ⟹   ENSP00000269192
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,381 - 34,887,994 (+)Ensembl
Ensembl Acc Id: ENST00000283365   ⟹   ENSP00000283365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,314 - 34,891,392 (+)Ensembl
Ensembl Acc Id: ENST00000315456   ⟹   ENSP00000322519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,317 - 34,829,328 (+)Ensembl
Ensembl Acc Id: ENST00000348997   ⟹   ENSP00000336682
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,284 - 34,868,812 (+)Ensembl
Ensembl Acc Id: ENST00000399113   ⟹   ENSP00000382064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,755,977 - 34,884,745 (+)Ensembl
Ensembl Acc Id: ENST00000399121   ⟹   ENSP00000382072
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,358 - 34,891,844 (+)Ensembl
Ensembl Acc Id: ENST00000444659   ⟹   ENSP00000405819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,298 - 34,891,844 (+)Ensembl
Ensembl Acc Id: ENST00000554864   ⟹   ENSP00000451516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,358 - 34,829,328 (+)Ensembl
Ensembl Acc Id: ENST00000556414   ⟹   ENSP00000452255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,392 - 34,887,838 (+)Ensembl
Ensembl Acc Id: ENST00000585446
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,709,356 - 34,812,056 (+)Ensembl
Ensembl Acc Id: ENST00000587723   ⟹   ENSP00000468262
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,822,362 - 34,858,364 (+)Ensembl
Ensembl Acc Id: ENST00000588125   ⟹   ENSP00000466978
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,335 - 34,766,023 (+)Ensembl
Ensembl Acc Id: ENST00000588506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,410 - 34,513,937 (+)Ensembl
Ensembl Acc Id: ENST00000588684   ⟹   ENSP00000464904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,358 - 34,756,032 (+)Ensembl
Ensembl Acc Id: ENST00000588771
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,371 - 34,513,848 (+)Ensembl
Ensembl Acc Id: ENST00000588949   ⟹   ENSP00000468631
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,297 - 34,794,185 (+)Ensembl
Ensembl Acc Id: ENST00000590412   ⟹   ENSP00000465063
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,903 - 34,794,247 (+)Ensembl
Ensembl Acc Id: ENST00000590598   ⟹   ENSP00000468473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,557,979 - 34,806,255 (+)Ensembl
Ensembl Acc Id: ENST00000590727   ⟹   ENSP00000468138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,817,962 - 34,827,654 (+)Ensembl
Ensembl Acc Id: ENST00000590831   ⟹   ENSP00000471143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,875,237 - 34,890,543 (+)Ensembl
Ensembl Acc Id: ENST00000591182   ⟹   ENSP00000467720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,391 - 34,888,010 (+)Ensembl
Ensembl Acc Id: ENST00000591816   ⟹   ENSP00000466573
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,318 - 34,766,027 (+)Ensembl
Ensembl Acc Id: ENST00000592114
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,815,607 - 34,820,868 (+)Ensembl
Ensembl Acc Id: ENST00000592449
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,882,089 - 34,891,140 (+)Ensembl
Ensembl Acc Id: ENST00000595022   ⟹   ENSP00000473078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,365 - 34,891,398 (+)Ensembl
Ensembl Acc Id: ENST00000596745   ⟹   ENSP00000469121
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,304 - 34,866,369 (+)Ensembl
Ensembl Acc Id: ENST00000597599   ⟹   ENSP00000473119
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,297 - 34,866,347 (+)Ensembl
Ensembl Acc Id: ENST00000597674   ⟹   ENSP00000471783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,392 - 34,866,980 (+)Ensembl
Ensembl Acc Id: ENST00000598142   ⟹   ENSP00000470716
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,679,537 - 34,888,125 (+)Ensembl
Ensembl Acc Id: ENST00000598334   ⟹   ENSP00000470152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,339 - 34,891,140 (+)Ensembl
Ensembl Acc Id: ENST00000598774   ⟹   ENSP00000472031
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,331 - 34,866,980 (+)Ensembl
Ensembl Acc Id: ENST00000599844   ⟹   ENSP00000470934
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,448 - 34,866,161 (+)Ensembl
Ensembl Acc Id: ENST00000601125   ⟹   ENSP00000470247
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,817,962 - 34,888,120 (+)Ensembl
Ensembl Acc Id: ENST00000601632
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,381 - 34,867,113 (+)Ensembl
Ensembl Acc Id: ENST00000601895
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,262 - 34,858,315 (+)Ensembl
Ensembl Acc Id: ENST00000679372   ⟹   ENSP00000506098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,959 - 34,891,094 (+)Ensembl
Ensembl Acc Id: ENST00000679678   ⟹   ENSP00000505120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,382 - 34,867,218 (+)Ensembl
Ensembl Acc Id: ENST00000679731   ⟹   ENSP00000506345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,473 - 34,829,316 (+)Ensembl
Ensembl Acc Id: ENST00000679796   ⟹   ENSP00000506659
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,318 - 34,891,278 (+)Ensembl
Ensembl Acc Id: ENST00000679936   ⟹   ENSP00000506586
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,389 - 34,866,861 (+)Ensembl
Ensembl Acc Id: ENST00000680346   ⟹   ENSP00000505947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,261 - 34,866,860 (+)Ensembl
Ensembl Acc Id: ENST00000680366   ⟹   ENSP00000506271
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,915 - 34,848,320 (+)Ensembl
Ensembl Acc Id: ENST00000680767   ⟹   ENSP00000505379
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,294 - 34,891,827 (+)Ensembl
Ensembl Acc Id: ENST00000680822   ⟹   ENSP00000505718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,294 - 34,891,276 (+)Ensembl
Ensembl Acc Id: ENST00000681065   ⟹   ENSP00000504909
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,427 - 34,827,656 (+)Ensembl
Ensembl Acc Id: ENST00000681241   ⟹   ENSP00000506495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,709,374 - 34,891,361 (+)Ensembl
Ensembl Acc Id: ENST00000681274   ⟹   ENSP00000505183
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,710,294 - 34,867,314 (+)Ensembl
Ensembl Acc Id: ENST00000681470   ⟹   ENSP00000505722
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,494,529 - 34,891,274 (+)Ensembl
Ensembl Acc Id: ENST00000681759   ⟹   ENSP00000506633
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,820,800 - 34,891,207 (+)Ensembl
Ensembl Acc Id: ENST00000682129   ⟹   ENSP00000506763
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,381 - 34,891,274 (+)Ensembl
Ensembl Acc Id: ENST00000682406   ⟹   ENSP00000506790
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,389 - 34,811,971 (+)Ensembl
Ensembl Acc Id: ENST00000682483   ⟹   ENSP00000508159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,430 - 34,866,865 (+)Ensembl
Ensembl Acc Id: ENST00000682581   ⟹   ENSP00000507924
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,679,468 - 34,867,305 (+)Ensembl
Ensembl Acc Id: ENST00000682923   ⟹   ENSP00000508131
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,291 - 34,867,295 (+)Ensembl
Ensembl Acc Id: ENST00000683092   ⟹   ENSP00000508057
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,356 - 34,820,905 (+)Ensembl
Ensembl Acc Id: ENST00000683370   ⟹   ENSP00000507104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,084 - 34,866,873 (+)Ensembl
Ensembl Acc Id: ENST00000683379   ⟹   ENSP00000507995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,356 - 34,891,276 (+)Ensembl
Ensembl Acc Id: ENST00000683705   ⟹   ENSP00000507911
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,338 - 34,891,185 (+)Ensembl
Ensembl Acc Id: ENST00000683876   ⟹   ENSP00000507423
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,820,597 - 34,867,212 (+)Ensembl
Ensembl Acc Id: ENST00000684228   ⟹   ENSP00000508278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,818,382 - 34,867,100 (+)Ensembl
Ensembl Acc Id: ENST00000684266   ⟹   ENSP00000507106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,331 - 34,891,280 (+)Ensembl
Ensembl Acc Id: ENST00000684359   ⟹   ENSP00000507300
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,361 - 34,891,280 (+)Ensembl
Ensembl Acc Id: ENST00000684377   ⟹   ENSP00000506757
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,410 - 34,891,291 (+)Ensembl
Ensembl Acc Id: ENST00000684560   ⟹   ENSP00000507082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,493,982 - 34,820,896 (+)Ensembl
Ensembl Acc Id: ENST00000684610   ⟹   ENSP00000508348
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,593,335 - 34,829,326 (+)Ensembl
Ensembl Acc Id: ENST00000684734   ⟹   ENSP00000506928
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1834,496,547 - 34,829,327 (+)Ensembl
RefSeq Acc Id: NM_001128175   ⟹   NP_001121647
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,829,324 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,100,329 - 32,336,339 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,021,193 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198938   ⟹   NP_001185867
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,100,329 - 32,398,881 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198939   ⟹   NP_001185868
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,100,329 - 32,398,881 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198940   ⟹   NP_001185869
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,100,329 - 32,398,881 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198941   ⟹   NP_001185870
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,868,812 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,217,240 - 32,375,851 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198942   ⟹   NP_001185871
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,818,283 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,325,292 - 32,398,881 (+)NCBI
T2T-CHM13v2.01835,010,153 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198943   ⟹   NP_001185872
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,817,962 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,324,971 - 32,398,881 (+)NCBI
T2T-CHM13v2.01835,009,832 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198944   ⟹   NP_001185873
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,818,283 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,325,292 - 32,398,881 (+)NCBI
T2T-CHM13v2.01835,010,153 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001198945   ⟹   NP_001185874
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,868,812 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,000,280 - 32,375,851 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386753   ⟹   NP_001373682
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386754   ⟹   NP_001373683
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386755   ⟹   NP_001373684
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386756   ⟹   NP_001373685
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386757   ⟹   NP_001373686
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386758   ⟹   NP_001373687
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386759   ⟹   NP_001373688
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386760   ⟹   NP_001373689
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386761   ⟹   NP_001373690
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386762   ⟹   NP_001373691
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386763   ⟹   NP_001373692
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386764   ⟹   NP_001373693
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386765   ⟹   NP_001373694
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386766   ⟹   NP_001373695
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386767   ⟹   NP_001373696
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386768   ⟹   NP_001373697
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386769   ⟹   NP_001373698
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386770   ⟹   NP_001373699
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,868,812 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386771   ⟹   NP_001373700
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,868,812 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386772   ⟹   NP_001373701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,868,812 (+)NCBI
T2T-CHM13v2.01834,785,182 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386773   ⟹   NP_001373702
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,868,812 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386774   ⟹   NP_001373703
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,868,812 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386775   ⟹   NP_001373704
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,829,324 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,021,193 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386776   ⟹   NP_001373705
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,829,324 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,021,193 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386777   ⟹   NP_001373706
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,829,324 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,021,193 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386788   ⟹   NP_001373717
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001386795   ⟹   NP_001373724
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001390   ⟹   NP_001381
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,755,976 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,544,246 - 30,725,364 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,262,965 - 32,398,881 (+)NCBI
T2T-CHM13v2.01834,947,821 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001391   ⟹   NP_001382
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,755,976 - 34,868,812 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,544,246 - 30,701,367 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,262,965 - 32,375,851 (+)NCBI
T2T-CHM13v2.01834,947,821 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001392   ⟹   NP_001383
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,829,324 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,327,279 - 30,663,290 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,000,280 - 32,336,339 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,021,193 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032975   ⟹   NP_116757
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,327,279 - 30,725,364 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,000,280 - 32,398,881 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032978   ⟹   NP_116760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,868,812 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,544,234 - 30,701,367 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,217,240 - 32,375,851 (+)NCBI
T2T-CHM13v2.01834,902,147 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032979   ⟹   NP_116761
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,868,812 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,327,279 - 30,701,367 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,000,280 - 32,375,851 (+)NCBI
T2T-CHM13v2.01834,685,119 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032980   ⟹   NP_116762
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,818,381 - 34,891,844 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,652,330 - 30,725,364 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,325,347 - 32,398,881 (+)NCBI
T2T-CHM13v2.01835,010,251 - 35,083,714 (+)NCBI
Sequence:
RefSeq Acc Id: NM_032981   ⟹   NP_116763
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,818,381 - 34,868,812 (+)NCBI
GRCh371832,073,254 - 32,471,808 (+)ENTREZGENE
Build 361830,652,330 - 30,701,367 (+)NCBI Archive
HuRef1828,932,326 - 29,330,662 (+)ENTREZGENE
CHM1_11832,325,347 - 32,375,851 (+)NCBI
T2T-CHM13v2.01835,010,251 - 35,060,682 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017025575   ⟹   XP_016881064
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047437316   ⟹   XP_047293272
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437317   ⟹   XP_047293273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437318   ⟹   XP_047293274
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437319   ⟹   XP_047293275
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437320   ⟹   XP_047293276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437321   ⟹   XP_047293277
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437322   ⟹   XP_047293278
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437323   ⟹   XP_047293279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437324   ⟹   XP_047293280
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437325   ⟹   XP_047293281
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437326   ⟹   XP_047293282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437327   ⟹   XP_047293283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,729 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437328   ⟹   XP_047293284
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437329   ⟹   XP_047293285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437330   ⟹   XP_047293286
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,729 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437331   ⟹   XP_047293287
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437332   ⟹   XP_047293288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437333   ⟹   XP_047293289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437334   ⟹   XP_047293290
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_047437335   ⟹   XP_047293291
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,868,812 (+)NCBI
RefSeq Acc Id: XM_047437336   ⟹   XP_047293292
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,868,812 (+)NCBI
RefSeq Acc Id: XM_047437337   ⟹   XP_047293293
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,868,812 (+)NCBI
RefSeq Acc Id: XM_047437338   ⟹   XP_047293294
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,335 - 34,829,324 (+)NCBI
RefSeq Acc Id: XM_047437339   ⟹   XP_047293295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,829,324 (+)NCBI
RefSeq Acc Id: XM_047437340   ⟹   XP_047293296
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,312 - 34,891,844 (+)NCBI
RefSeq Acc Id: XM_054318239   ⟹   XP_054174214
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318240   ⟹   XP_054174215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318241   ⟹   XP_054174216
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318242   ⟹   XP_054174217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318243   ⟹   XP_054174218
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318244   ⟹   XP_054174219
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318245   ⟹   XP_054174220
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318246   ⟹   XP_054174221
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318247   ⟹   XP_054174222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318248   ⟹   XP_054174223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318249   ⟹   XP_054174224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318250   ⟹   XP_054174225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318251   ⟹   XP_054174226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,726 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318252   ⟹   XP_054174227
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318253   ⟹   XP_054174228
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318254   ⟹   XP_054174229
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,680 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318255   ⟹   XP_054174230
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318256   ⟹   XP_054174231
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318257   ⟹   XP_054174232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,785,182 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318258   ⟹   XP_054174233
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,902,147 - 35,083,714 (+)NCBI
RefSeq Acc Id: XM_054318259   ⟹   XP_054174234
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,902,147 - 35,060,682 (+)NCBI
RefSeq Acc Id: XM_054318260   ⟹   XP_054174235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,060,682 (+)NCBI
RefSeq Acc Id: XM_054318261   ⟹   XP_054174236
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,785,182 - 35,060,682 (+)NCBI
RefSeq Acc Id: XM_054318262   ⟹   XP_054174237
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,785,182 - 35,021,193 (+)NCBI
RefSeq Acc Id: XM_054318263   ⟹   XP_054174238
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,021,193 (+)NCBI
RefSeq Acc Id: XM_054318264   ⟹   XP_054174239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01834,685,119 - 35,083,714 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001121647 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185867 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185868 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185869 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185870 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185871 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185872 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185873 (Get FASTA)   NCBI Sequence Viewer  
  NP_001185874 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373682 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373683 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373684 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373685 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373686 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373687 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373688 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373689 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373690 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373691 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373692 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373693 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373694 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373695 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373696 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373697 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373698 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373699 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373700 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373701 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373702 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373703 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373704 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373705 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373706 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373717 (Get FASTA)   NCBI Sequence Viewer  
  NP_001373724 (Get FASTA)   NCBI Sequence Viewer  
  NP_001381 (Get FASTA)   NCBI Sequence Viewer  
  NP_001382 (Get FASTA)   NCBI Sequence Viewer  
  NP_001383 (Get FASTA)   NCBI Sequence Viewer  
  NP_116757 (Get FASTA)   NCBI Sequence Viewer  
  NP_116760 (Get FASTA)   NCBI Sequence Viewer  
  NP_116761 (Get FASTA)   NCBI Sequence Viewer  
  NP_116762 (Get FASTA)   NCBI Sequence Viewer  
  NP_116763 (Get FASTA)   NCBI Sequence Viewer  
  XP_016881064 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293272 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293273 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293274 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293275 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293276 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293277 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293278 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293279 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293280 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293281 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293282 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293283 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293284 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293285 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293286 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293287 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293288 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293290 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293291 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293292 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293293 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293294 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293295 (Get FASTA)   NCBI Sequence Viewer  
  XP_047293296 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174214 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174215 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174216 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174217 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174218 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174219 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174220 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174221 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174222 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174223 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174224 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174225 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174226 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174227 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174228 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174229 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174230 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174231 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174232 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174233 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174234 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174235 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174236 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174237 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174238 (Get FASTA)   NCBI Sequence Viewer  
  XP_054174239 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB58541 (Get FASTA)   NCBI Sequence Viewer  
  AAB58542 (Get FASTA)   NCBI Sequence Viewer  
  AAB58543 (Get FASTA)   NCBI Sequence Viewer  
  AAC50424 (Get FASTA)   NCBI Sequence Viewer  
  AAC50425 (Get FASTA)   NCBI Sequence Viewer  
  AAC50426 (Get FASTA)   NCBI Sequence Viewer  
  AAC50429 (Get FASTA)   NCBI Sequence Viewer  
  AAC50430 (Get FASTA)   NCBI Sequence Viewer  
  AAC50431 (Get FASTA)   NCBI Sequence Viewer  
  AAH05300 (Get FASTA)   NCBI Sequence Viewer  
  AAP35583 (Get FASTA)   NCBI Sequence Viewer  
  ACU00915 (Get FASTA)   NCBI Sequence Viewer  
  ACU00916 (Get FASTA)   NCBI Sequence Viewer  
  BAD92339 (Get FASTA)   NCBI Sequence Viewer  
  BAF83845 (Get FASTA)   NCBI Sequence Viewer  
  BAG57887 (Get FASTA)   NCBI Sequence Viewer  
  BAG58572 (Get FASTA)   NCBI Sequence Viewer  
  BAG58610 (Get FASTA)   NCBI Sequence Viewer  
  BAH12359 (Get FASTA)   NCBI Sequence Viewer  
  CAA08769 (Get FASTA)   NCBI Sequence Viewer  
  EAX01319 (Get FASTA)   NCBI Sequence Viewer  
  EAX01320 (Get FASTA)   NCBI Sequence Viewer  
  EAX01321 (Get FASTA)   NCBI Sequence Viewer  
  EAX01322 (Get FASTA)   NCBI Sequence Viewer  
  EAX01323 (Get FASTA)   NCBI Sequence Viewer  
  EAX01324 (Get FASTA)   NCBI Sequence Viewer  
  EAX01325 (Get FASTA)   NCBI Sequence Viewer  
  EAX01326 (Get FASTA)   NCBI Sequence Viewer  
  EAX01327 (Get FASTA)   NCBI Sequence Viewer  
  EAX01328 (Get FASTA)   NCBI Sequence Viewer  
  EAX01329 (Get FASTA)   NCBI Sequence Viewer  
  EAX01330 (Get FASTA)   NCBI Sequence Viewer  
  EAX01331 (Get FASTA)   NCBI Sequence Viewer  
  EAX01332 (Get FASTA)   NCBI Sequence Viewer  
  EAX01333 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000269192
  ENSP00000269192.7
  ENSP00000283365
  ENSP00000283365.10
  ENSP00000322519
  ENSP00000322519.5
  ENSP00000336682
  ENSP00000336682.4
  ENSP00000382064
  ENSP00000382064.3
  ENSP00000382072
  ENSP00000382072.5
  ENSP00000405819
  ENSP00000405819.2
  ENSP00000451516
  ENSP00000451516.2
  ENSP00000452255
  ENSP00000452255.2
  ENSP00000464904.1
  ENSP00000465063.1
  ENSP00000466573.2
  ENSP00000466978.1
  ENSP00000467720
  ENSP00000467720.1
  ENSP00000468473.1
  ENSP00000468631.2
  ENSP00000469121
  ENSP00000469121.1
  ENSP00000470152
  ENSP00000470152.1
  ENSP00000470247
  ENSP00000470247.1
  ENSP00000470716.1
  ENSP00000470934.1
  ENSP00000471783
  ENSP00000471783.1
  ENSP00000472031
  ENSP00000472031.1
  ENSP00000473078
  ENSP00000473078.1
  ENSP00000473119
  ENSP00000473119.1
  ENSP00000504909.1
  ENSP00000505120.1
  ENSP00000505183.1
  ENSP00000505379.2
  ENSP00000505718
  ENSP00000505718.1
  ENSP00000505722
  ENSP00000505722.1
  ENSP00000505947.1
  ENSP00000506098.1
  ENSP00000506271.1
  ENSP00000506345.1
  ENSP00000506495
  ENSP00000506495.1
  ENSP00000506586.1
  ENSP00000506633.1
  ENSP00000506659
  ENSP00000506659.1
  ENSP00000506757
  ENSP00000506757.1
  ENSP00000506763.1
  ENSP00000506790.1
  ENSP00000506928
  ENSP00000506928.1
  ENSP00000507080.1
  ENSP00000507082
  ENSP00000507082.1
  ENSP00000507104.1
  ENSP00000507106
  ENSP00000507106.1
  ENSP00000507300
  ENSP00000507300.1
  ENSP00000507423.1
  ENSP00000507645.1
  ENSP00000507911
  ENSP00000507911.1
  ENSP00000507924.1
  ENSP00000507995
  ENSP00000507995.1
  ENSP00000508057.1
  ENSP00000508131.1
  ENSP00000508159
  ENSP00000508159.1
  ENSP00000508278.1
  ENSP00000508348
  ENSP00000508348.1
GenBank Protein Q9Y4J8 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_116757   ⟸   NM_032975
- Peptide Label: isoform 2
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116761   ⟸   NM_032979
- Peptide Label: isoform 5
- UniProtKB: A0A804HKZ4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185874   ⟸   NM_001198945
- Peptide Label: isoform 17
- UniProtKB: Q9Y4J8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001383   ⟸   NM_001392
- Peptide Label: isoform 7
- UniProtKB: A0A7P0TAN3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185868   ⟸   NM_001198939
- Peptide Label: isoform 11
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185869   ⟸   NM_001198940
- Peptide Label: isoform 12
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185867   ⟸   NM_001198938
- Peptide Label: isoform 10
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001121647   ⟸   NM_001128175
- Peptide Label: isoform 9
- UniProtKB: A0A7P0TAN3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116760   ⟸   NM_032978
- Peptide Label: isoform 4
- Sequence:
RefSeq Acc Id: NP_001185870   ⟸   NM_001198941
- Peptide Label: isoform 13
- UniProtKB: A0A7P0T8J4 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001381   ⟸   NM_001390
- Peptide Label: isoform 1
- UniProtKB: Q59GK7 (UniProtKB/Swiss-Prot),   Q13500 (UniProtKB/Swiss-Prot),   Q13499 (UniProtKB/Swiss-Prot),   Q13498 (UniProtKB/Swiss-Prot),   Q13199 (UniProtKB/Swiss-Prot),   Q13198 (UniProtKB/Swiss-Prot),   Q13197 (UniProtKB/Swiss-Prot),   O75697 (UniProtKB/Swiss-Prot),   O15333 (UniProtKB/Swiss-Prot),   O15332 (UniProtKB/Swiss-Prot),   M0R397 (UniProtKB/Swiss-Prot),   M0QYX6 (UniProtKB/Swiss-Prot),   B4DIU8 (UniProtKB/Swiss-Prot),   B4DIR0 (UniProtKB/Swiss-Prot),   B4DGS6 (UniProtKB/Swiss-Prot),   A8MUY4 (UniProtKB/Swiss-Prot),   A8MSZ0 (UniProtKB/Swiss-Prot),   A8K541 (UniProtKB/Swiss-Prot),   Q9BS59 (UniProtKB/Swiss-Prot),   Q9Y4J8 (UniProtKB/Swiss-Prot),   A0A804HHT6 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001382   ⟸   NM_001391
- Peptide Label: isoform 3
- UniProtKB: Q9Y4J8 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001185872   ⟸   NM_001198943
- Peptide Label: isoform 15
- UniProtKB: B7Z3X3 (UniProtKB/TrEMBL),   A0A7P0TBG1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185871   ⟸   NM_001198942
- Peptide Label: isoform 14
- UniProtKB: A0A804HHU2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001185873   ⟸   NM_001198944
- Peptide Label: isoform 16
- UniProtKB: M0QZ28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116762   ⟸   NM_032980
- Peptide Label: isoform 6
- UniProtKB: M0QZ28 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_116763   ⟸   NM_032981
- Peptide Label: isoform 8
- UniProtKB: A0A804HII3 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016881064   ⟸   XM_017025575
- Peptide Label: isoform X5
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000473078   ⟸   ENST00000595022
Ensembl Acc Id: ENSP00000452255   ⟸   ENST00000556414
Ensembl Acc Id: ENSP00000382072   ⟸   ENST00000399121
Ensembl Acc Id: ENSP00000382064   ⟸   ENST00000399113
Ensembl Acc Id: ENSP00000469121   ⟸   ENST00000596745
Ensembl Acc Id: ENSP00000473119   ⟸   ENST00000597599
Ensembl Acc Id: ENSP00000269192   ⟸   ENST00000269192
Ensembl Acc Id: ENSP00000471783   ⟸   ENST00000597674
Ensembl Acc Id: ENSP00000470716   ⟸   ENST00000598142
Ensembl Acc Id: ENSP00000336682   ⟸   ENST00000348997
Ensembl Acc Id: ENSP00000472031   ⟸   ENST00000598774
Ensembl Acc Id: ENSP00000470152   ⟸   ENST00000598334
Ensembl Acc Id: ENSP00000470934   ⟸   ENST00000599844
Ensembl Acc Id: ENSP00000283365   ⟸   ENST00000283365
Ensembl Acc Id: ENSP00000468262   ⟸   ENST00000587723
Ensembl Acc Id: ENSP00000466978   ⟸   ENST00000588125
Ensembl Acc Id: ENSP00000468631   ⟸   ENST00000588949
Ensembl Acc Id: ENSP00000464904   ⟸   ENST00000588684
Ensembl Acc Id: ENSP00000405819   ⟸   ENST00000444659
Ensembl Acc Id: ENSP00000470247   ⟸   ENST00000601125
Ensembl Acc Id: ENSP00000468138   ⟸   ENST00000590727
Ensembl Acc Id: ENSP00000468473   ⟸   ENST00000590598
Ensembl Acc Id: ENSP00000465063   ⟸   ENST00000590412
Ensembl Acc Id: ENSP00000322519   ⟸   ENST00000315456
Ensembl Acc Id: ENSP00000471143   ⟸   ENST00000590831
Ensembl Acc Id: ENSP00000466573   ⟸   ENST00000591816
Ensembl Acc Id: ENSP00000467720   ⟸   ENST00000591182
Ensembl Acc Id: ENSP00000451516   ⟸   ENST00000554864
RefSeq Acc Id: NP_001373690   ⟸   NM_001386761
- Peptide Label: isoform 2
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373691   ⟸   NM_001386762
- Peptide Label: isoform 20
- UniProtKB: A0A7P0T8Y5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373683   ⟸   NM_001386754
- Peptide Label: isoform 18
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373684   ⟸   NM_001386755
- Peptide Label: isoform 18
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373689   ⟸   NM_001386760
- Peptide Label: isoform 19
- UniProtKB: A0A7P0T8Y5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373692   ⟸   NM_001386763
- Peptide Label: isoform 12
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373693   ⟸   NM_001386764
- Peptide Label: isoform 12
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373697   ⟸   NM_001386768
- Peptide Label: isoform 21
- UniProtKB: A0A7P0T9L1 (UniProtKB/TrEMBL),   A0A7P0T8Y5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373700   ⟸   NM_001386771
- Peptide Label: isoform 13
- UniProtKB: A0A7P0T8J4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373702   ⟸   NM_001386773
- Peptide Label: isoform 23
- UniProtKB: A0A7P0T8J4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373705   ⟸   NM_001386776
- Peptide Label: isoform 9
- UniProtKB: A0A7P0TAN3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373686   ⟸   NM_001386757
- Peptide Label: isoform 18
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373685   ⟸   NM_001386756
- Peptide Label: isoform 18
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373694   ⟸   NM_001386765
- Peptide Label: isoform 12
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373699   ⟸   NM_001386770
- Peptide Label: isoform 22
RefSeq Acc Id: NP_001373701   ⟸   NM_001386772
- Peptide Label: isoform 13
- UniProtKB: A0A7P0T8J4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373724   ⟸   NM_001386795
- Peptide Label: isoform 24
- UniProtKB: A0A7P0TBH9 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373717   ⟸   NM_001386788
- Peptide Label: isoform 24
- UniProtKB: A0A7P0TBH9 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373687   ⟸   NM_001386758
- Peptide Label: isoform 18
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373688   ⟸   NM_001386759
- Peptide Label: isoform 18
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL),   A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373695   ⟸   NM_001386766
- Peptide Label: isoform 12
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373696   ⟸   NM_001386767
- Peptide Label: isoform 12
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373682   ⟸   NM_001386753
- Peptide Label: isoform 10
- UniProtKB: A0A804HHT6 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373698   ⟸   NM_001386769
- Peptide Label: isoform 21
- UniProtKB: A0A7P0T9L1 (UniProtKB/TrEMBL),   A0A7P0T8Y5 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373703   ⟸   NM_001386774
- Peptide Label: isoform 23
- UniProtKB: A0A7P0T8J4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373704   ⟸   NM_001386775
- Peptide Label: isoform 7
- UniProtKB: A0A7P0TAN3 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001373706   ⟸   NM_001386777
- Peptide Label: isoform 9
- UniProtKB: A0A7P0TAN3 (UniProtKB/TrEMBL)
Ensembl Acc Id: ENSP00000505183   ⟸   ENST00000681274
Ensembl Acc Id: ENSP00000504909   ⟸   ENST00000681065
Ensembl Acc Id: ENSP00000506633   ⟸   ENST00000681759
Ensembl Acc Id: ENSP00000506345   ⟸   ENST00000679731
Ensembl Acc Id: ENSP00000506659   ⟸   ENST00000679796
Ensembl Acc Id: ENSP00000506098   ⟸   ENST00000679372
Ensembl Acc Id: ENSP00000505722   ⟸   ENST00000681470
Ensembl Acc Id: ENSP00000505947   ⟸   ENST00000680346
Ensembl Acc Id: ENSP00000505379   ⟸   ENST00000680767
Ensembl Acc Id: ENSP00000506271   ⟸   ENST00000680366
Ensembl Acc Id: ENSP00000506495   ⟸   ENST00000681241
Ensembl Acc Id: ENSP00000505120   ⟸   ENST00000679678
Ensembl Acc Id: ENSP00000506586   ⟸   ENST00000679936
Ensembl Acc Id: ENSP00000505718   ⟸   ENST00000680822
Ensembl Acc Id: ENSP00000506790   ⟸   ENST00000682406
Ensembl Acc Id: ENSP00000508131   ⟸   ENST00000682923
Ensembl Acc Id: ENSP00000507911   ⟸   ENST00000683705
Ensembl Acc Id: ENSP00000506763   ⟸   ENST00000682129
Ensembl Acc Id: ENSP00000506757   ⟸   ENST00000684377
Ensembl Acc Id: ENSP00000507104   ⟸   ENST00000683370
Ensembl Acc Id: ENSP00000508159   ⟸   ENST00000682483
Ensembl Acc Id: ENSP00000507300   ⟸   ENST00000684359
Ensembl Acc Id: ENSP00000507924   ⟸   ENST00000682581
Ensembl Acc Id: ENSP00000507423   ⟸   ENST00000683876
Ensembl Acc Id: ENSP00000507995   ⟸   ENST00000683379
Ensembl Acc Id: ENSP00000507082   ⟸   ENST00000684560
Ensembl Acc Id: ENSP00000508348   ⟸   ENST00000684610
Ensembl Acc Id: ENSP00000507106   ⟸   ENST00000684266
Ensembl Acc Id: ENSP00000508278   ⟸   ENST00000684228
Ensembl Acc Id: ENSP00000506928   ⟸   ENST00000684734
Ensembl Acc Id: ENSP00000508057   ⟸   ENST00000683092
RefSeq Acc Id: XP_047293279   ⟸   XM_047437323
- Peptide Label: isoform X8
RefSeq Acc Id: XP_047293288   ⟸   XM_047437332
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047293282   ⟸   XM_047437326
- Peptide Label: isoform X11
RefSeq Acc Id: XP_047293278   ⟸   XM_047437322
- Peptide Label: isoform X7
- UniProtKB: Q9Y4J8 (UniProtKB/Swiss-Prot),   Q59GK7 (UniProtKB/Swiss-Prot),   Q13500 (UniProtKB/Swiss-Prot),   Q13499 (UniProtKB/Swiss-Prot),   Q13498 (UniProtKB/Swiss-Prot),   Q13199 (UniProtKB/Swiss-Prot),   Q13198 (UniProtKB/Swiss-Prot),   Q13197 (UniProtKB/Swiss-Prot),   O75697 (UniProtKB/Swiss-Prot),   O15333 (UniProtKB/Swiss-Prot),   O15332 (UniProtKB/Swiss-Prot),   M0R397 (UniProtKB/Swiss-Prot),   M0QYX6 (UniProtKB/Swiss-Prot),   B4DIU8 (UniProtKB/Swiss-Prot),   B4DIR0 (UniProtKB/Swiss-Prot),   B4DGS6 (UniProtKB/Swiss-Prot),   A8MUY4 (UniProtKB/Swiss-Prot),   A8MSZ0 (UniProtKB/Swiss-Prot),   A8K541 (UniProtKB/Swiss-Prot),   Q9BS59 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047293274   ⟸   XM_047437318
- Peptide Label: isoform X3
RefSeq Acc Id: XP_047293275   ⟸   XM_047437319
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047293284   ⟸   XM_047437328
- Peptide Label: isoform X13
RefSeq Acc Id: XP_047293277   ⟸   XM_047437321
- Peptide Label: isoform X6
RefSeq Acc Id: XP_047293272   ⟸   XM_047437316
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047293296   ⟸   XM_047437340
- Peptide Label: isoform X21
RefSeq Acc Id: XP_047293273   ⟸   XM_047437317
- Peptide Label: isoform X2
RefSeq Acc Id: XP_047293280   ⟸   XM_047437324
- Peptide Label: isoform X9
RefSeq Acc Id: XP_047293292   ⟸   XM_047437336
- Peptide Label: isoform X18
RefSeq Acc Id: XP_047293295   ⟸   XM_047437339
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047293283   ⟸   XM_047437327
- Peptide Label: isoform X12
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293286   ⟸   XM_047437330
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047293287   ⟸   XM_047437331
- Peptide Label: isoform X15
RefSeq Acc Id: XP_047293276   ⟸   XM_047437320
- Peptide Label: isoform X5
RefSeq Acc Id: XP_047293289   ⟸   XM_047437333
- Peptide Label: isoform X16
- UniProtKB: A0A7P0T9L1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293293   ⟸   XM_047437337
- Peptide Label: isoform X19
RefSeq Acc Id: XP_047293294   ⟸   XM_047437338
- Peptide Label: isoform X20
RefSeq Acc Id: XP_047293285   ⟸   XM_047437329
- Peptide Label: isoform X14
RefSeq Acc Id: XP_047293290   ⟸   XM_047437334
- Peptide Label: isoform X16
- UniProtKB: A0A7P0T9L1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047293281   ⟸   XM_047437325
- Peptide Label: isoform X10
RefSeq Acc Id: XP_047293291   ⟸   XM_047437335
- Peptide Label: isoform X17
RefSeq Acc Id: XP_054174222   ⟸   XM_054318247
- Peptide Label: isoform X8
RefSeq Acc Id: XP_054174231   ⟸   XM_054318256
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054174225   ⟸   XM_054318250
- Peptide Label: isoform X11
RefSeq Acc Id: XP_054174221   ⟸   XM_054318246
- Peptide Label: isoform X7
- UniProtKB: Q9Y4J8 (UniProtKB/Swiss-Prot),   Q59GK7 (UniProtKB/Swiss-Prot),   Q13500 (UniProtKB/Swiss-Prot),   Q13499 (UniProtKB/Swiss-Prot),   Q13498 (UniProtKB/Swiss-Prot),   Q13199 (UniProtKB/Swiss-Prot),   Q13198 (UniProtKB/Swiss-Prot),   Q13197 (UniProtKB/Swiss-Prot),   O75697 (UniProtKB/Swiss-Prot),   O15333 (UniProtKB/Swiss-Prot),   O15332 (UniProtKB/Swiss-Prot),   M0R397 (UniProtKB/Swiss-Prot),   M0QYX6 (UniProtKB/Swiss-Prot),   B4DIU8 (UniProtKB/Swiss-Prot),   B4DIR0 (UniProtKB/Swiss-Prot),   B4DGS6 (UniProtKB/Swiss-Prot),   A8MUY4 (UniProtKB/Swiss-Prot),   A8MSZ0 (UniProtKB/Swiss-Prot),   A8K541 (UniProtKB/Swiss-Prot),   Q9BS59 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054174216   ⟸   XM_054318241
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054174217   ⟸   XM_054318242
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054174227   ⟸   XM_054318252
- Peptide Label: isoform X13
RefSeq Acc Id: XP_054174220   ⟸   XM_054318245
- Peptide Label: isoform X6
RefSeq Acc Id: XP_054174214   ⟸   XM_054318239
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054174239   ⟸   XM_054318264
- Peptide Label: isoform X21
RefSeq Acc Id: XP_054174215   ⟸   XM_054318240
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054174223   ⟸   XM_054318248
- Peptide Label: isoform X9
RefSeq Acc Id: XP_054174235   ⟸   XM_054318260
- Peptide Label: isoform X18
RefSeq Acc Id: XP_054174238   ⟸   XM_054318263
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054174229   ⟸   XM_054318254
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054174226   ⟸   XM_054318251
- Peptide Label: isoform X12
- UniProtKB: A0A7P0Z4D7 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174230   ⟸   XM_054318255
- Peptide Label: isoform X15
RefSeq Acc Id: XP_054174218   ⟸   XM_054318243
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174232   ⟸   XM_054318257
- Peptide Label: isoform X16
- UniProtKB: A0A7P0T9L1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174236   ⟸   XM_054318261
- Peptide Label: isoform X19
RefSeq Acc Id: XP_054174237   ⟸   XM_054318262
- Peptide Label: isoform X20
RefSeq Acc Id: XP_054174219   ⟸   XM_054318244
- Peptide Label: isoform X5
RefSeq Acc Id: XP_054174228   ⟸   XM_054318253
- Peptide Label: isoform X14
RefSeq Acc Id: XP_054174233   ⟸   XM_054318258
- Peptide Label: isoform X16
- UniProtKB: A0A7P0T9L1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054174224   ⟸   XM_054318249
- Peptide Label: isoform X10
RefSeq Acc Id: XP_054174234   ⟸   XM_054318259
- Peptide Label: isoform X17
Protein Domains
EF-hand   ZZ-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9Y4J8-F1-model_v2 AlphaFold Q9Y4J8 1-743 view protein structure

Promoters
RGD ID:7237161
Promoter ID:EPDNEW_H24327
Type:initiation region
Name:DTNA_2
Description:dystrobrevin alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24328  EPDNEW_H24329  EPDNEW_H24330  EPDNEW_H24331  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,344 - 34,493,404EPDNEW
RGD ID:7237163
Promoter ID:EPDNEW_H24328
Type:initiation region
Name:DTNA_5
Description:dystrobrevin alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24327  EPDNEW_H24329  EPDNEW_H24330  EPDNEW_H24331  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,493,923 - 34,493,983EPDNEW
RGD ID:7237167
Promoter ID:EPDNEW_H24329
Type:initiation region
Name:DTNA_4
Description:dystrobrevin alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24327  EPDNEW_H24328  EPDNEW_H24330  EPDNEW_H24331  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,593,358 - 34,593,418EPDNEW
RGD ID:7237169
Promoter ID:EPDNEW_H24330
Type:initiation region
Name:DTNA_1
Description:dystrobrevin alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24327  EPDNEW_H24328  EPDNEW_H24329  EPDNEW_H24331  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,710,298 - 34,710,358EPDNEW
RGD ID:7237171
Promoter ID:EPDNEW_H24331
Type:initiation region
Name:DTNA_3
Description:dystrobrevin alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H24327  EPDNEW_H24328  EPDNEW_H24329  EPDNEW_H24330  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381834,818,381 - 34,818,441EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3057 AgrOrtholog
COSMIC DTNA COSMIC
Ensembl Genes ENSG00000134769 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000269192 ENTREZGENE
  ENST00000269192.11 UniProtKB/Swiss-Prot
  ENST00000283365 ENTREZGENE
  ENST00000283365.14 UniProtKB/Swiss-Prot
  ENST00000315456 ENTREZGENE
  ENST00000315456.10 UniProtKB/Swiss-Prot
  ENST00000348997 ENTREZGENE
  ENST00000348997.9 UniProtKB/Swiss-Prot
  ENST00000399113 ENTREZGENE
  ENST00000399113.7 UniProtKB/Swiss-Prot
  ENST00000399121 ENTREZGENE
  ENST00000399121.9 UniProtKB/Swiss-Prot
  ENST00000444659 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000444659.6 UniProtKB/Swiss-Prot
  ENST00000554864 ENTREZGENE
  ENST00000554864.7 UniProtKB/Swiss-Prot
  ENST00000556414 ENTREZGENE
  ENST00000556414.7 UniProtKB/Swiss-Prot
  ENST00000585446.1 UniProtKB/TrEMBL
  ENST00000588125.5 UniProtKB/TrEMBL
  ENST00000588684.5 UniProtKB/TrEMBL
  ENST00000588949.6 UniProtKB/TrEMBL
  ENST00000590412.5 UniProtKB/TrEMBL
  ENST00000590598.5 UniProtKB/TrEMBL
  ENST00000591182 ENTREZGENE
  ENST00000591182.5 UniProtKB/Swiss-Prot
  ENST00000591816.6 UniProtKB/TrEMBL
  ENST00000595022 ENTREZGENE
  ENST00000595022.5 UniProtKB/Swiss-Prot
  ENST00000596745 ENTREZGENE
  ENST00000596745.5 UniProtKB/Swiss-Prot
  ENST00000597599 ENTREZGENE
  ENST00000597599.5 UniProtKB/Swiss-Prot
  ENST00000597674 ENTREZGENE
  ENST00000597674.5 UniProtKB/Swiss-Prot
  ENST00000598142.5 UniProtKB/Swiss-Prot
  ENST00000598334 ENTREZGENE
  ENST00000598334.5 UniProtKB/Swiss-Prot
  ENST00000598774 ENTREZGENE
  ENST00000598774.6 UniProtKB/Swiss-Prot
  ENST00000599844.5 UniProtKB/TrEMBL
  ENST00000601125 ENTREZGENE
  ENST00000601125.5 UniProtKB/TrEMBL
  ENST00000601632.6 UniProtKB/TrEMBL
  ENST00000679372.1 UniProtKB/TrEMBL
  ENST00000679678.1 UniProtKB/TrEMBL
  ENST00000679731.1 UniProtKB/TrEMBL
  ENST00000679796 ENTREZGENE, UniProtKB/TrEMBL
  ENST00000679796.1 UniProtKB/Swiss-Prot
  ENST00000679936.1 UniProtKB/Swiss-Prot
  ENST00000680346.1 UniProtKB/Swiss-Prot
  ENST00000680366.1 UniProtKB/TrEMBL
  ENST00000680767.2 UniProtKB/TrEMBL
  ENST00000680822 ENTREZGENE
  ENST00000680822.1 UniProtKB/TrEMBL
  ENST00000681065.1 UniProtKB/TrEMBL
  ENST00000681241 ENTREZGENE
  ENST00000681241.1 UniProtKB/Swiss-Prot
  ENST00000681274.1 UniProtKB/TrEMBL
  ENST00000681470 ENTREZGENE
  ENST00000681470.1 UniProtKB/TrEMBL
  ENST00000681759.1 UniProtKB/TrEMBL
  ENST00000682129.1 UniProtKB/TrEMBL
  ENST00000682406.1 UniProtKB/TrEMBL
  ENST00000682483 ENTREZGENE
  ENST00000682483.1 UniProtKB/Swiss-Prot
  ENST00000682581.1 UniProtKB/TrEMBL
  ENST00000682923.1 UniProtKB/TrEMBL
  ENST00000683092.1 UniProtKB/TrEMBL
  ENST00000683370.1 UniProtKB/Swiss-Prot
  ENST00000683379 ENTREZGENE
  ENST00000683379.1 UniProtKB/Swiss-Prot
  ENST00000683705 ENTREZGENE
  ENST00000683705.1 UniProtKB/Swiss-Prot
  ENST00000683876.1 UniProtKB/Swiss-Prot
  ENST00000684228.1 UniProtKB/TrEMBL
  ENST00000684266 ENTREZGENE
  ENST00000684266.1 UniProtKB/TrEMBL
  ENST00000684359 ENTREZGENE
  ENST00000684359.1 UniProtKB/Swiss-Prot
  ENST00000684377 ENTREZGENE
  ENST00000684377.1 UniProtKB/TrEMBL
  ENST00000684560 ENTREZGENE
  ENST00000684560.1 UniProtKB/TrEMBL
  ENST00000684610 ENTREZGENE
  ENST00000684610.1 UniProtKB/Swiss-Prot
  ENST00000684734 ENTREZGENE
  ENST00000684734.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.60.90 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  6.10.140.70 UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000134769 GTEx
HGNC ID HGNC:3057 ENTREZGENE
Human Proteome Map DTNA Human Proteome Map
InterPro Distrobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_dom_typ1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_dom_typ2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  KCMF1/Dystrophin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_ZZ_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1837 UniProtKB/Swiss-Prot
NCBI Gene 1837 ENTREZGENE
OMIM 601239 OMIM
PANTHER DYSTROBREVIN ALPHA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  E3 UBIQUITIN-PROTEIN LIGASE KCMF1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam EF-hand_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand_3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF00569 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27510 PharmGKB
PIRSF Distrobrevin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ZF_ZZ_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZF_ZZ_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ZnF_ZZ UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP RING/U-box UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A7P0T818_HUMAN UniProtKB/TrEMBL
  A0A7P0T8G2_HUMAN UniProtKB/TrEMBL
  A0A7P0T8J4 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T8Y5 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0T9L1 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TAN3 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TAU5_HUMAN UniProtKB/TrEMBL
  A0A7P0TBG1 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0TBH9 ENTREZGENE, UniProtKB/TrEMBL
  A0A7P0Z4D7 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HHT6 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HHU2 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HII3 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HII4_HUMAN UniProtKB/TrEMBL
  A0A804HJU0_HUMAN UniProtKB/TrEMBL
  A0A804HKS8_HUMAN UniProtKB/TrEMBL
  A0A804HKZ4 ENTREZGENE, UniProtKB/TrEMBL
  A0A804HLB1_HUMAN UniProtKB/TrEMBL
  A8K541 ENTREZGENE
  A8MSZ0 ENTREZGENE
  A8MUY4 ENTREZGENE
  B4DGS6 ENTREZGENE
  B4DIR0 ENTREZGENE
  B4DIU8 ENTREZGENE
  B7Z3X3 ENTREZGENE, UniProtKB/TrEMBL
  D2DGW5_HUMAN UniProtKB/TrEMBL
  D2DGW6_HUMAN UniProtKB/TrEMBL
  DTNA_HUMAN UniProtKB/Swiss-Prot
  K7EIV1_HUMAN UniProtKB/TrEMBL
  K7EJ84_HUMAN UniProtKB/TrEMBL
  K7EMN1_HUMAN UniProtKB/TrEMBL
  K7ENJ7_HUMAN UniProtKB/TrEMBL
  K7ERZ2_HUMAN UniProtKB/TrEMBL
  K7ESB2_HUMAN UniProtKB/TrEMBL
  L8E9H2_HUMAN UniProtKB/TrEMBL
  M0QYX6 ENTREZGENE
  M0QZ28 ENTREZGENE, UniProtKB/TrEMBL
  M0R021_HUMAN UniProtKB/TrEMBL
  M0R397 ENTREZGENE
  O15332 ENTREZGENE
  O15333 ENTREZGENE
  O75697 ENTREZGENE
  Q13197 ENTREZGENE
  Q13198 ENTREZGENE
  Q13199 ENTREZGENE
  Q13498 ENTREZGENE
  Q13499 ENTREZGENE
  Q13500 ENTREZGENE
  Q59GK7 ENTREZGENE
  Q9BS59 ENTREZGENE
  Q9Y4J8 ENTREZGENE
UniProt Secondary A8K541 UniProtKB/Swiss-Prot
  A8MSZ0 UniProtKB/Swiss-Prot
  A8MUY4 UniProtKB/Swiss-Prot
  B4DGS6 UniProtKB/Swiss-Prot
  B4DIR0 UniProtKB/Swiss-Prot
  B4DIU8 UniProtKB/Swiss-Prot
  M0QYX6 UniProtKB/Swiss-Prot
  M0R397 UniProtKB/Swiss-Prot
  O15332 UniProtKB/Swiss-Prot
  O15333 UniProtKB/Swiss-Prot
  O75697 UniProtKB/Swiss-Prot
  Q13197 UniProtKB/Swiss-Prot
  Q13198 UniProtKB/Swiss-Prot
  Q13199 UniProtKB/Swiss-Prot
  Q13498 UniProtKB/Swiss-Prot
  Q13499 UniProtKB/Swiss-Prot
  Q13500 UniProtKB/Swiss-Prot
  Q59GK7 UniProtKB/Swiss-Prot
  Q9BS59 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-12-08 DTNA  dystrobrevin alpha  DTNA  dystrobrevin, alpha  Symbol and/or name change 5135510 APPROVED