LAMP2 (lysosomal associated membrane protein 2) - Rat Genome Database
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Gene: LAMP2 (lysosomal associated membrane protein 2) Homo sapiens
Analyze
Symbol: LAMP2
Name: lysosomal associated membrane protein 2
RGD ID: 735952
HGNC Page HGNC
Description: Exhibits enzyme binding activity. Involved in negative regulation of protein-containing complex assembly; protein catabolic process; and regulation of protein stability. Localizes to several cellular components, including bounding membrane of organelle; extracellular exosome; and trans-Golgi network. Predicted to colocalize with membrane raft. Implicated in Danon disease and hypertrophic cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: CD107 antigen-like family member B; CD107b; DND; LAMP-2; LAMPB; LGP-96; LGP110; lysosomal membrane glycoprotein 2; lysosomal-associated membrane protein 2; lysosome-associated membrane glycoprotein 2; lysosome-associated membrane protein 2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX120,426,148 - 120,469,365 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,427,827 - 120,469,365 (-)EnsemblGRCh38hg38GRCh38
GRCh38X120,426,148 - 120,469,349 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X119,560,003 - 119,603,204 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,448,709 - 119,487,189 (-)NCBINCBI36hg18NCBI36
Build 34X119,352,246 - 119,385,043NCBI
CeleraX120,024,817 - 120,068,016 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX109,011,091 - 109,054,565 (-)NCBIHuRef
CHM1_1X119,471,636 - 119,514,850 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,4-methylenedioxymethamphetamine  (EXP,ISO)
3-methyladenine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
aloxistatin  (EXP)
ammonium chloride  (ISO)
amphetamine  (ISO)
arachidonic acid  (ISO)
Aroclor 1254  (ISO)
atrazine  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bicalutamide  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calciol  (ISO)
carbon nanotube  (ISO)
chloroquine  (EXP)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (ISO)
cyclosporin A  (ISO)
D-glucose  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
dimethyl fumarate  (ISO)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
enniatin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethambutol  (ISO)
ethanol  (EXP,ISO)
ferric oxide  (ISO)
folic acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP)
hydrogen peroxide  (ISO)
lead nitrate  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (ISO)
melatonin  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
pepstatin A  (EXP)
phenylmercury acetate  (EXP)
potassium dichromate  (ISO)
Propiverine  (ISO)
pyrogallol  (ISO)
pyrroloquinoline quinone  (EXP)
quizartinib  (EXP)
rimonabant  (ISO)
rotenone  (EXP,ISO)
sarin  (EXP)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thiophenes  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trifloxystrobin  (EXP)
troglitazone  (ISO)
uranium atom  (EXP)
valproic acid  (EXP)
vitamin E  (ISO)
zidovudine  (ISO)
zinc oxide  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
1. Arad M, etal., N Engl J Med. 2005 Jan 27;352(4):362-72.
2. Cao Y, etal., Pancreas. 2013 Mar;42(2):301-7. doi: 10.1097/MPA.0b013e31825b9f2c.
3. Chen H, etal., Int J Mol Med. 2018 Jul 6. doi: 10.3892/ijmm.2018.3763.
4. Cuervo AM and Wong E, Cell Res. 2014 Jan;24(1):92-104. doi: 10.1038/cr.2013.153. Epub 2013 Nov 26.
5. GOA_HUMAN data from the GO Consortium
6. Jannig PR, etal., PLoS One. 2014 Jan 10;9(1):e85820. doi: 10.1371/journal.pone.0085820. eCollection 2014.
7. Ma S, etal., Sci Rep. 2018 May 2;8(1):6932. doi: 10.1038/s41598-018-24351-w.
8. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
9. Nishino I, etal., Nature. 2000 Aug 24;406(6798):906-10.
10. OMIM Disease Annotation Pipeline
11. Pipeline to import KEGG annotations from KEGG into RGD
12. RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. RGD automated import pipeline for gene-chemical interactions
14. RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Wang L, etal., Clin Rev Allergy Immunol. 2017 Aug;53(1):105-116. doi: 10.1007/s12016-017-8598-3.
16. Xilouri M and Stefanis L, Mol Cell Neurosci. 2015 May;66(Pt A):29-36. doi: 10.1016/j.mcn.2015.01.003. Epub 2015 Feb 25.
17. Yang Z, etal., Circulation. 2005 Sep 13;112(11):1612-7. Epub 2005 Sep 6.
18. Yin Y, etal., Mol Neurobiol. 2018 Mar;55(3):2454-2470. doi: 10.1007/s12035-017-0504-8. Epub 2017 Apr 1.
Additional References at PubMed
PMID:1435334   PMID:1959930   PMID:2032724   PMID:2243102   PMID:2332441   PMID:2912382   PMID:3198605   PMID:7487911   PMID:7488019   PMID:7999007   PMID:8323299   PMID:8517882  
PMID:8660832   PMID:8662539   PMID:8743190   PMID:8995204   PMID:9010755   PMID:9668075   PMID:9746610   PMID:10222041   PMID:11139587   PMID:12144129   PMID:12477932   PMID:12505983  
PMID:12536145   PMID:12754519   PMID:14561493   PMID:15229288   PMID:15297306   PMID:15333840   PMID:15340161   PMID:15489334   PMID:15772651   PMID:15894275   PMID:15907287   PMID:15908444  
PMID:16190986   PMID:16335952   PMID:16344560   PMID:16565504   PMID:16570122   PMID:17048695   PMID:17296900   PMID:17506821   PMID:17873513   PMID:17897319   PMID:17899313   PMID:18004770  
PMID:18061453   PMID:18403758   PMID:18550537   PMID:18635949   PMID:18958159   PMID:19056867   PMID:19057086   PMID:19292867   PMID:19322201   PMID:19343823   PMID:19362087   PMID:19458911  
PMID:19474101   PMID:19524015   PMID:19533775   PMID:19535332   PMID:19588270   PMID:19786618   PMID:19815536   PMID:19912576   PMID:19913121   PMID:20086096   PMID:20173215   PMID:20176123  
PMID:20513107   PMID:20518820   PMID:20540933   PMID:20628086   PMID:20797626   PMID:20920663   PMID:20926008   PMID:21161685   PMID:21462217   PMID:21514572   PMID:21674799   PMID:21873635  
PMID:21896273   PMID:21988832   PMID:22365987   PMID:22541782   PMID:22593165   PMID:22641697   PMID:22732524   PMID:22863883   PMID:22867958   PMID:22874552   PMID:22939629   PMID:23071649  
PMID:23093945   PMID:23349634   PMID:23376485   PMID:23443559   PMID:23457305   PMID:23492776   PMID:23503679   PMID:23533145   PMID:23603048   PMID:23704322   PMID:23880665   PMID:24007661  
PMID:24068328   PMID:24203998   PMID:24334114   PMID:24691104   PMID:24721399   PMID:24755837   PMID:24880125   PMID:24899193   PMID:24980434   PMID:24999758   PMID:25275127   PMID:25327288  
PMID:25342746   PMID:25594542   PMID:25645918   PMID:25653352   PMID:25940285   PMID:26186441   PMID:26212789   PMID:26350055   PMID:26398689   PMID:26658462   PMID:26856698   PMID:27067261  
PMID:27097129   PMID:27130438   PMID:27145725   PMID:27179547   PMID:27244671   PMID:27377049   PMID:27460667   PMID:27560716   PMID:27627761   PMID:27628032   PMID:27663661   PMID:27664420  
PMID:27840904   PMID:27923262   PMID:27932462   PMID:28199306   PMID:28199315   PMID:28298427   PMID:28380382   PMID:28383562   PMID:28453465   PMID:28465257   PMID:28483530   PMID:28514442  
PMID:28534963   PMID:28607115   PMID:28627787   PMID:28684853   PMID:28685749   PMID:28729403   PMID:28743268   PMID:28743755   PMID:29180619   PMID:29455656   PMID:29456132   PMID:29463847  
PMID:29556337   PMID:29753918   PMID:29859188   PMID:29940807   PMID:29941173   PMID:29950142   PMID:30048497   PMID:30097533   PMID:30194816   PMID:30413001   PMID:30455355   PMID:30584088  
PMID:30609224   PMID:30711520   PMID:30718432   PMID:30819798   PMID:30836785   PMID:31410188   PMID:31501420   PMID:31527615   PMID:31672277   PMID:31693752   PMID:31699817   PMID:31729179  
PMID:32134616   PMID:32295144   PMID:33019488   PMID:33144569  


Genomics

Comparative Map Data
LAMP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 EnsemblX120,426,148 - 120,469,365 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 EnsemblX120,427,827 - 120,469,365 (-)EnsemblGRCh38hg38GRCh38
GRCh38X120,426,148 - 120,469,349 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37X119,560,003 - 119,603,204 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,448,709 - 119,487,189 (-)NCBINCBI36hg18NCBI36
Build 34X119,352,246 - 119,385,043NCBI
CeleraX120,024,817 - 120,068,016 (-)NCBI
Cytogenetic MapXq24NCBI
HuRefX109,011,091 - 109,054,565 (-)NCBIHuRef
CHM1_1X119,471,636 - 119,514,850 (-)NCBICHM1_1
Lamp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X37,488,524 - 37,545,337 (-)NCBIGRCm39mm39
GRCm39 EnsemblX37,490,234 - 37,545,331 (-)Ensembl
GRCm38X38,399,647 - 38,456,460 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX38,401,357 - 38,456,454 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X35,758,241 - 35,809,632 (-)NCBIGRCm37mm9NCBIm37
MGSCv36X34,649,691 - 34,701,082 (-)NCBImm8
CeleraX26,051,798 - 26,103,095 (-)NCBICelera
Cytogenetic MapXA3.3NCBI
cM MapX22.67NCBI
Lamp2
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2X117,173,097 - 117,222,090 (-)NCBI
Rnor_6.0 EnsemblX124,722,628 - 124,766,044 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0X124,722,628 - 124,766,079 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0X124,809,053 - 124,852,509 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X6,908,285 - 6,951,772 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1X6,913,840 - 6,957,328 (+)NCBI
CeleraX116,392,499 - 116,436,287 (-)NCBICelera
Cytogenetic MapXq35NCBI
Lamp2
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555721,422,981 - 1,462,622 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555721,423,048 - 1,464,443 (+)NCBIChiLan1.0ChiLan1.0
LAMP2
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1X119,886,982 - 119,929,896 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,886,982 - 119,929,896 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0X109,700,185 - 109,743,579 (-)NCBIMhudiblu_PPA_v0panPan3
LAMP2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1X92,405,946 - 92,444,527 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 EnsemblX92,407,950 - 92,444,765 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_TashaX78,437,137 - 78,476,066 (-)NCBI
ROS_Cfam_1.0X94,152,123 - 94,191,053 (-)NCBI
UMICH_Zoey_3.1X91,601,151 - 91,640,080 (-)NCBI
UNSW_CanFamBas_1.0X93,364,000 - 93,402,925 (-)NCBI
UU_Cfam_GSD_1.0X93,138,811 - 93,177,755 (-)NCBI
Lamp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_ltri_2X91,364,734 - 91,431,269 (-)NCBI
SpeTri2.0NW_0049364799,584,221 - 9,622,330 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,582,059 - 98,623,908 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1X98,586,718 - 98,623,939 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2X112,841,525 - 112,883,411 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LAMP2
(Chlorocebus sabaeus - African green monkey)
No map positions available.
Lamp2
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_004624931297,864 - 343,314 (-)NCBI

Position Markers
STS-AA009802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,589,551 - 119,589,796UniSTSGRCh37
Build 36X119,473,579 - 119,473,824RGDNCBI36
CeleraX120,054,366 - 120,054,611RGD
Cytogenetic MapXq24UniSTS
HuRefX109,040,405 - 109,040,650UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
WI-11028  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,570,377 - 119,570,553UniSTSGRCh37
Build 36X119,454,405 - 119,454,581RGDNCBI36
CeleraX120,035,195 - 120,035,371RGD
Cytogenetic MapXq24UniSTS
HuRefX109,021,473 - 109,021,649UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
Whitehead-RH MapX276.0UniSTS
NCBI RH MapX608.9UniSTS
RH79207  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,575,597 - 119,575,746UniSTSGRCh37
Build 36X119,459,625 - 119,459,774RGDNCBI36
CeleraX120,040,416 - 120,040,565RGD
Cytogenetic MapXq24UniSTS
HuRefX109,026,704 - 109,026,853UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
AL008932  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,600,065 - 119,600,235UniSTSGRCh37
Build 36X119,484,093 - 119,484,263RGDNCBI36
CeleraX120,064,877 - 120,065,047RGD
Cytogenetic MapXq24UniSTS
HuRefX109,051,426 - 109,051,596UniSTS
RH124059  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,582,989 - 119,583,179UniSTSGRCh37
Build 36X119,467,017 - 119,467,207RGDNCBI36
CeleraX120,047,808 - 120,047,998RGD
Cytogenetic MapXq24UniSTS
HuRefX109,033,852 - 109,034,042UniSTS
G20613  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,560,075 - 119,560,263UniSTSGRCh37
Build 36X119,444,103 - 119,444,291RGDNCBI36
CeleraX120,024,889 - 120,025,077RGD
Cytogenetic MapXq24UniSTS
HuRefX109,011,163 - 109,011,351UniSTS
A005Z05  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,560,075 - 119,560,263UniSTSGRCh37
Build 36X119,444,103 - 119,444,291RGDNCBI36
CeleraX120,024,889 - 120,025,077RGD
Cytogenetic MapXq24UniSTS
HuRefX109,011,163 - 109,011,351UniSTS
GeneMap99-GB4 RH MapX298.29UniSTS
NCBI RH MapX608.9UniSTS
G19741  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,570,428 - 119,570,568UniSTSGRCh37
Build 36X119,454,456 - 119,454,596RGDNCBI36
CeleraX120,035,246 - 120,035,386RGD
Cytogenetic MapXq24UniSTS
HuRefX109,021,524 - 109,021,664UniSTS
A001X10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,570,428 - 119,570,568UniSTSGRCh37
Build 36X119,454,456 - 119,454,596RGDNCBI36
CeleraX120,035,246 - 120,035,386RGD
Cytogenetic MapXq24UniSTS
HuRefX109,021,524 - 109,021,664UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
RH36081  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,561,443 - 119,561,555UniSTSGRCh37
Build 36X119,445,471 - 119,445,583RGDNCBI36
CeleraX120,026,257 - 120,026,369RGD
Cytogenetic MapXq24UniSTS
HuRefX109,012,531 - 109,012,643UniSTS
GeneMap99-GB4 RH MapX298.29UniSTS
NCBI RH MapX608.9UniSTS
DXS7521  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,593,063 - 119,593,291UniSTSGRCh37
Build 36X119,477,091 - 119,477,319RGDNCBI36
CeleraX120,057,879 - 120,058,107RGD
Cytogenetic MapXq24UniSTS
HuRefX109,043,918 - 109,044,146UniSTS
Whitehead-YAC Contig MapX UniSTS
STS-N63463  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,565,835 - 119,566,012UniSTSGRCh37
Build 36X119,449,863 - 119,450,040RGDNCBI36
CeleraX120,030,649 - 120,030,826RGD
Cytogenetic MapXq24UniSTS
HuRefX109,016,918 - 109,017,095UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
DXS7878  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,591,345 - 119,591,419UniSTSGRCh37
Build 36X119,475,373 - 119,475,447RGDNCBI36
CeleraX120,056,161 - 120,056,235RGD
Cytogenetic MapXq24UniSTS
HuRefX109,042,200 - 109,042,274UniSTS
Stanford-G3 RH MapX3530.0UniSTS
NCBI RH MapX586.7UniSTS
DXS7032E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,572,128 - 119,572,233UniSTSGRCh37
Build 36X119,456,156 - 119,456,261RGDNCBI36
CeleraX120,036,946 - 120,037,051RGD
Cytogenetic MapXq24UniSTS
HuRefX109,023,225 - 109,023,330UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
STS-G07303  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,570,387 - 119,570,558UniSTSGRCh37
Build 36X119,454,415 - 119,454,586RGDNCBI36
CeleraX120,035,205 - 120,035,376RGD
Cytogenetic MapXq24UniSTS
HuRefX109,021,483 - 109,021,654UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
RH78986  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,565,910 - 119,566,070UniSTSGRCh37
Build 36X119,449,938 - 119,450,098RGDNCBI36
CeleraX120,030,724 - 120,030,884RGD
Cytogenetic MapXq24UniSTS
HuRefX109,016,993 - 109,017,153UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
WI-13810  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,560,034 - 119,560,165UniSTSGRCh37
Build 36X119,444,062 - 119,444,193RGDNCBI36
CeleraX120,024,848 - 120,024,979RGD
Cytogenetic MapXq24UniSTS
HuRefX109,011,122 - 109,011,253UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
Whitehead-RH MapX276.0UniSTS
NCBI RH MapX608.9UniSTS
A006D20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,564,813 - 119,564,932UniSTSGRCh37
Build 36X119,448,841 - 119,448,960RGDNCBI36
CeleraX120,029,627 - 120,029,746RGD
Cytogenetic MapXq24UniSTS
HuRefX109,015,896 - 109,016,015UniSTS
GeneMap99-GB4 RH MapX298.19UniSTS
NCBI RH MapX608.9UniSTS
DXS8328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,570,374 - 119,570,648UniSTSGRCh37
Build 36X119,454,402 - 119,454,676RGDNCBI36
CeleraX120,035,192 - 120,035,466RGD
Cytogenetic MapXq24UniSTS
HuRefX109,021,470 - 109,021,744UniSTS
Whitehead-YAC Contig MapX UniSTS
LAMP2_3399  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,570,309 - 119,571,026UniSTSGRCh37
Build 36X119,454,337 - 119,455,054RGDNCBI36
CeleraX120,035,127 - 120,035,844RGD
HuRefX109,021,405 - 109,022,122UniSTS
KAL1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,564,959 - 119,565,122UniSTSGRCh37
Build 36X119,448,987 - 119,449,150RGDNCBI36
CeleraX120,029,773 - 120,029,936RGD
HuRefX109,016,042 - 109,016,205UniSTS
G32325  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37X119,564,813 - 119,564,932UniSTSGRCh37
CeleraX120,029,627 - 120,029,746UniSTS
Cytogenetic MapXq24UniSTS
HuRefX109,015,896 - 109,016,015UniSTS
GDB:574059  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic MapXq24UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1809
Count of miRNA genes:825
Interacting mature miRNAs:979
Transcripts:ENST00000200639, ENST00000371335, ENST00000434600, ENST00000486593, ENST00000538785, ENST00000540603
Prediction methods:Microtar, Miranda, Pita, 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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1
Medium 2434 2759 1714 617 1934 458 4357 2006 3646 408 1415 1612 175 1 1203 2788 6 2
Low 5 232 12 7 17 7 191 87 11 45 1 1
Below cutoff

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_002294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_013995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC002476 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC006962 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH004938 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK293931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK295038 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY561849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002965 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040653 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP386088 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471107 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA405328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J04183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JF276428 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU508440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU557502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S79873 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U36336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X77196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000200639   ⟹   ENSP00000200639
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,426,148 - 120,469,296 (-)Ensembl
RefSeq Acc Id: ENST00000371335   ⟹   ENSP00000360386
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,436,494 - 120,469,306 (-)Ensembl
RefSeq Acc Id: ENST00000434600   ⟹   ENSP00000408411
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,427,827 - 120,469,365 (-)Ensembl
RefSeq Acc Id: ENST00000486593   ⟹   ENSP00000431526
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 EnsemblX120,431,248 - 120,449,068 (-)Ensembl
RefSeq Acc Id: NM_001122606   ⟹   NP_001116078
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,426,148 - 120,469,349 (-)NCBI
GRCh37X119,560,003 - 119,603,204 (-)ENTREZGENE
HuRefX109,011,091 - 109,054,565 (-)ENTREZGENE
CHM1_1X119,471,636 - 119,514,850 (-)NCBI
Sequence:
RefSeq Acc Id: NM_002294   ⟹   NP_002285
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,426,148 - 120,469,296 (-)NCBI
GRCh37X119,560,003 - 119,603,204 (-)ENTREZGENE
Build 36X119,448,709 - 119,487,189 (-)NCBI Archive
HuRefX109,011,091 - 109,054,565 (-)ENTREZGENE
CHM1_1X119,471,636 - 119,514,850 (-)NCBI
Sequence:
RefSeq Acc Id: NM_013995   ⟹   NP_054701
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,436,494 - 120,469,349 (-)NCBI
GRCh37X119,560,003 - 119,603,204 (-)ENTREZGENE
Build 36X119,454,393 - 119,487,189 (-)NCBI Archive
HuRefX109,011,091 - 109,054,565 (-)ENTREZGENE
CHM1_1X119,481,981 - 119,514,850 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_001116078   ⟸   NM_001122606
- Peptide Label: isoform C precursor
- UniProtKB: P13473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_002285   ⟸   NM_002294
- Peptide Label: isoform A precursor
- UniProtKB: P13473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_054701   ⟸   NM_013995
- Peptide Label: isoform B precursor
- UniProtKB: P13473 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000360386   ⟸   ENST00000371335
RefSeq Acc Id: ENSP00000200639   ⟸   ENST00000200639
RefSeq Acc Id: ENSP00000431526   ⟸   ENST00000486593
RefSeq Acc Id: ENSP00000408411   ⟸   ENST00000434600

Promoters
RGD ID:6808988
Promoter ID:HG_KWN:67921
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001122606,   NM_002294,   NM_013995
Position:
Human AssemblyChrPosition (strand)Source
Build 36X119,486,861 - 119,487,361 (-)MPROMDB
RGD ID:6853486
Promoter ID:EP74569
Type:initiation region
Name:HS_LAMP2
Description:Lysosomal-associated membrane protein 2.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Mammalian gene collection (MGC) full-length cDNA cloning
Position:
Human AssemblyChrPosition (strand)Source
Build 36X119,487,179 - 119,487,239EPD
RGD ID:13627990
Promoter ID:EPDNEW_H29270
Type:initiation region
Name:LAMP2_1
Description:lysosomal associated membrane protein 2
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H29277  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38X120,469,296 - 120,469,356EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002294.3(LAMP2):c.-32_-24GTCGCCGCC[1] microsatellite Danon disease [RCV000157958]|Danon disease [RCV000613856]|Primary familial hypertrophic cardiomyopathy [RCV000030112]|not provided [RCV000675451]|not specified [RCV000037402] ChrX:120469184..120469192 [GRCh38]
ChrX:119603039..119603047 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013995.2(LAMP2):c.463del (p.Ser155fs) deletion Danon disease [RCV000037418]|Primary familial hypertrophic cardiomyopathy [RCV000030113] ChrX:120449063 [GRCh38]
ChrX:119582918 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.64+16C>G single nucleotide variant not specified [RCV000602803] ChrX:120469090 [GRCh38]
ChrX:119602945 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.741G>T (p.Lys247Asn) single nucleotide variant Cardiovascular phenotype [RCV000621340] ChrX:120447841 [GRCh38]
ChrX:119581696 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.566G>A (p.Cys189Tyr) single nucleotide variant Danon disease [RCV000560180] ChrX:120448016 [GRCh38]
ChrX:119581871 [GRCh37]
ChrX:Xq24
uncertain significance
LAMP2, 2-BP DEL, 1097AA deletion Danon disease [RCV000010654] ChrX:Xq24 pathogenic
NM_013995.2(LAMP2):c.440T>A (p.Leu147Ter) single nucleotide variant Danon disease [RCV000010655] ChrX:120449086 [GRCh38]
ChrX:119582941 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.864+5G>C single nucleotide variant Danon disease [RCV000010656] ChrX:120446300 [GRCh38]
ChrX:119580155 [GRCh37]
ChrX:Xq24
pathogenic
LAMP2, 1-BP INS, 974A insertion Danon disease [RCV000010657] ChrX:Xq24 pathogenic
NM_013995.2(LAMP2):c.741+1G>A single nucleotide variant Danon disease [RCV000010658] ChrX:120447840 [GRCh38]
ChrX:119581695 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.14del (p.Arg5fs) deletion Danon disease [RCV000010659] ChrX:120469156 [GRCh38]
ChrX:119603011 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.883dup (p.Tyr295fs) duplication Danon disease [RCV000010660] ChrX:120442643..120442644 [GRCh38]
ChrX:119576498..119576499 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.36_42del (p.Gly13fs) deletion Danon disease [RCV000010661] ChrX:120469128..120469134 [GRCh38]
ChrX:119602983..119602989 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.520C>T (p.Gln174Ter) single nucleotide variant Danon disease [RCV000010662] ChrX:120449006 [GRCh38]
ChrX:119582861 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.961T>C (p.Trp321Arg) single nucleotide variant Danon disease [RCV000010664] ChrX:120441862 [GRCh38]
ChrX:119575717 [GRCh37]
ChrX:Xq24
pathogenic
LAMP2, 1-BP DEL, 1219A deletion Danon disease [RCV000010665] ChrX:Xq24 pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3 copy number gain See cases [RCV000133911] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|likely pathogenic|conflicting data from submitters
NM_013995.2(LAMP2):c.696T>A (p.Cys232Ter) single nucleotide variant Danon disease [RCV000549262] ChrX:120447886 [GRCh38]
ChrX:119581741 [GRCh37]
ChrX:Xq24
pathogenic
NM_001122606.1(LAMP2):c.1094-2717G>A single nucleotide variant Danon disease [RCV000559105] ChrX:120431343 [GRCh38]
ChrX:119565198 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) single nucleotide variant Danon disease [RCV000010663]|Danon disease [RCV000844638]|not provided [RCV000157981] ChrX:120442599 [GRCh38]
ChrX:119576454 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.1093+2514G>A single nucleotide variant Danon disease [RCV000230647]|not provided [RCV000431687]|not specified [RCV000038789] ChrX:120439216 [GRCh38]
ChrX:119573071 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity
NM_002294.3(LAMP2):c.*2746A>G single nucleotide variant Danon disease [RCV000391773]|Hypertrophic cardiomyopathy [RCV000356732]|not specified [RCV000036928] ChrX:120428577 [GRCh38]
ChrX:119562432 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_002294.3(LAMP2):c.*2773A>C single nucleotide variant not specified [RCV000036929] ChrX:120428550 [GRCh38]
ChrX:119562405 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.-4G>A single nucleotide variant not specified [RCV000037403] ChrX:120469173 [GRCh38]
ChrX:119603028 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.-4G>C single nucleotide variant Cardiovascular phenotype [RCV000618305]|Danon disease [RCV000341633]|Hypertrophic cardiomyopathy [RCV000307020]|not specified [RCV000037404] ChrX:120469173 [GRCh38]
ChrX:119603028 [GRCh37]
ChrX:Xq24
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.156A>T (p.Val52=) single nucleotide variant Cardiovascular phenotype [RCV000253949]|Danon disease [RCV000346704]|History of neurodevelopmental disorder [RCV000715317]|Hypertrophic cardiomyopathy [RCV000399625]|not provided [RCV000675450]|not specified [RCV000037405] ChrX:120456678 [GRCh38]
ChrX:119590533 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_002294.3(LAMP2):c.158G>A (p.Arg53His) single nucleotide variant not specified [RCV000037406] ChrX:120456676 [GRCh38]
ChrX:119590531 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV000037407] ChrX:120456651 [GRCh38]
ChrX:119590506 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) single nucleotide variant Hypertrophic cardiomyopathy [RCV000037408] ChrX:120456651 [GRCh38]
ChrX:119590506 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.184-7C>G single nucleotide variant not specified [RCV000037409] ChrX:120455577 [GRCh38]
ChrX:119589432 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.191del (p.Val64fs) deletion Hypertrophic cardiomyopathy [RCV000037410] ChrX:120455563 [GRCh38]
ChrX:119589418 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.293G>A (p.Trp98Ter) single nucleotide variant Danon disease [RCV000037412]|not provided [RCV000157963] ChrX:120455461 [GRCh38]
ChrX:119589316 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
NM_002294.3(LAMP2):c.299C>T (p.Ala100Val) single nucleotide variant not specified [RCV000037413] ChrX:120455455 [GRCh38]
ChrX:119589310 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) single nucleotide variant not specified [RCV000037414] ChrX:120455421 [GRCh38]
ChrX:119589276 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) single nucleotide variant Cardiomyopathy [RCV000770584]|Cardiovascular phenotype [RCV000242077]|Danon disease [RCV000295297]|History of neurodevelopmental disorder [RCV000716100]|Hypertrophic cardiomyopathy [RCV000350248]|not specified [RCV000037415] ChrX:120455415 [GRCh38]
ChrX:119589270 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.65-2A>G single nucleotide variant Danon disease [RCV000037416]|not provided [RCV001091709] ChrX:120456771 [GRCh38]
ChrX:119590626 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.371C>T (p.Thr124Ile) single nucleotide variant not specified [RCV000037417] ChrX:120455383 [GRCh38]
ChrX:119589238 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.472A>G (p.Thr158Ala) single nucleotide variant Danon disease [RCV000547615]|not provided [RCV000675449]|not specified [RCV000037419] ChrX:120449054 [GRCh38]
ChrX:119582909 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_002294.3(LAMP2):c.517G>A (p.Val173Ile) single nucleotide variant Danon disease [RCV000638586]|not specified [RCV000037420] ChrX:120449009 [GRCh38]
ChrX:119582864 [GRCh37]
ChrX:Xq24
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.56T>G (p.Leu19Arg) single nucleotide variant not specified [RCV000037421] ChrX:120469114 [GRCh38]
ChrX:119602969 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) single nucleotide variant Cardiovascular phenotype [RCV000619957]|Danon disease [RCV001083515]|History of neurodevelopmental disorder [RCV000721007]|Hypertrophic cardiomyopathy [RCV000853431]|not provided [RCV000726564]|not specified [RCV000037422] ChrX:120447996 [GRCh38]
ChrX:119581851 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.591G>A (p.Val197=) single nucleotide variant Cardiovascular phenotype [RCV000617347]|Danon disease [RCV000389586]|Hypertrophic cardiomyopathy [RCV000316578]|not provided [RCV000845329]|not specified [RCV000037423] ChrX:120447991 [GRCh38]
ChrX:119581846 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) single nucleotide variant Cardiomyopathy [RCV000853049]|Cardiovascular phenotype [RCV000617835]|Danon disease [RCV000465775]|History of neurodevelopmental disorder [RCV000718230]|Intellectual disability [RCV001089470]|not provided [RCV000755557]|not specified [RCV000037424] ChrX:120447921 [GRCh38]
ChrX:119581776 [GRCh37]
ChrX:Xq24
likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.672A>G (p.Ser224=) single nucleotide variant not specified [RCV000037425] ChrX:120447910 [GRCh38]
ChrX:119581765 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.741+11C>T single nucleotide variant Danon disease [RCV001168183]|not specified [RCV000037426] ChrX:120447830 [GRCh38]
ChrX:119581685 [GRCh37]
ChrX:Xq24
benign
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) single nucleotide variant Cardiovascular phenotype [RCV000243244]|Danon disease [RCV000474311]|History of neurodevelopmental disorder [RCV000719059]|not specified [RCV000037427] ChrX:120446414 [GRCh38]
ChrX:119580269 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity
NM_002294.3(LAMP2):c.824A>G (p.Asn275Ser) single nucleotide variant Danon disease [RCV000685066]|not specified [RCV000037428] ChrX:120446345 [GRCh38]
ChrX:119580200 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.842A>G (p.Tyr281Cys) single nucleotide variant Danon disease [RCV001229832]|not specified [RCV000037429] ChrX:120446327 [GRCh38]
ChrX:119580182 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.845T>G (p.Leu282Arg) single nucleotide variant not specified [RCV000037430] ChrX:120446324 [GRCh38]
ChrX:119580179 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.855C>T (p.Val285=) single nucleotide variant not specified [RCV000037431] ChrX:120446314 [GRCh38]
ChrX:119580169 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.864+3_864+6del deletion Danon disease [RCV000037432]|Hypertrophic cardiomyopathy [RCV000844640]|not provided [RCV000157986] ChrX:120446299..120446302 [GRCh38]
ChrX:119580154..119580157 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
NM_002294.3(LAMP2):c.865-1G>C single nucleotide variant Hypertrophic cardiomyopathy [RCV000037433] ChrX:120442663 [GRCh38]
ChrX:119576518 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.865-3C>A single nucleotide variant not specified [RCV000037434] ChrX:120442665 [GRCh38]
ChrX:119576520 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.927C>T (p.Ser309=) single nucleotide variant Cardiovascular phenotype [RCV000242368]|Danon disease [RCV000374719]|History of neurodevelopmental disorder [RCV000716802]|Hypertrophic cardiomyopathy [RCV000280231]|not provided [RCV000675448]|not specified [RCV000037435] ChrX:120442600 [GRCh38]
ChrX:119576455 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2 copy number gain See cases [RCV000050889] ChrX:3092486..155699618 [GRCh38]
ChrX:3010527..154929279 [GRCh37]
ChrX:3020527..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3 copy number gain See cases [RCV000050810] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1 copy number loss See cases [RCV000050811] ChrX:20140..155699618 [GRCh38]
ChrX:70140..154929279 [GRCh37]
ChrX:10140..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000050699] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]|See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss Global developmental delay [RCV000050386]|See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000050697] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1 copy number loss See cases [RCV000051160] ChrX:115417992..156022206 [GRCh38]
ChrX:114652461..155251871 [GRCh37]
ChrX:114558717..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1 copy number loss See cases [RCV000051665] ChrX:57372584..155996431 [GRCh38]
ChrX:57399017..155226096 [GRCh37]
ChrX:57415742..154879290 [NCBI36]
ChrX:Xp11.21-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1 copy number loss See cases [RCV000051666] ChrX:63279794..155939524 [GRCh38]
ChrX:62499671..155169188 [GRCh37]
ChrX:62416396..154822382 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1 copy number loss See cases [RCV000051728] ChrX:116264813..155980575 [GRCh38]
ChrX:115396069..155210240 [GRCh37]
ChrX:115310097..154863434 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1 copy number loss See cases [RCV000051713] ChrX:100524562..155669954 [GRCh38]
ChrX:99779559..154785891 [GRCh37]
ChrX:99666215..154552809 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3 copy number gain See cases [RCV000052359] ChrX:2790845..155699618 [GRCh38]
ChrX:2708886..154929279 [GRCh37]
ChrX:2718886..154582473 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]|See cases [RCV000052327] ChrX:237659..156022362 [GRCh38]
ChrX:154326..155252027 [GRCh37]
ChrX:94326..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3 copy number gain See cases [RCV000052324] ChrX:27245..155996431 [GRCh38]
ChrX:77245..155226096 [GRCh37]
ChrX:17245..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]|See cases [RCV000052418] ChrX:73008114..140201321 [GRCh38]
ChrX:72227953..139283477 [GRCh37]
ChrX:72144678..139111143 [NCBI36]
ChrX:Xq13.2-27.1
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3 copy number gain See cases [RCV000052325] ChrX:40704..156022362 [GRCh38]
ChrX:90704..155252027 [GRCh37]
ChrX:30704..154905221 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3 copy number gain See cases [RCV000052322] ChrX:26101..155999293 [GRCh38]
ChrX:76101..155228958 [GRCh37]
ChrX:16101..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3 copy number gain See cases [RCV000052438] ChrX:81261589..126519353 [GRCh38]
ChrX:80517088..125653336 [GRCh37]
ChrX:80403744..125481017 [NCBI36]
ChrX:Xq21.1-25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss Global developmental delay [RCV000052986]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|Intellectual functioning disability [RCV000052988]|Global developmental delay [RCV000052989]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]|See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss Hypoplastic left heart [RCV000052982]|See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain Global developmental delay [RCV000052984]|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]|See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_002294.3(LAMP2):c.217dup (p.Thr73fs) duplication Hypertrophic cardiomyopathy [RCV000037411] ChrX:120455536..120455537 [GRCh38]
ChrX:119589391..119589392 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.579_586del (p.Lys193fs) deletion not provided [RCV000080004] ChrX:120447996..120448003 [GRCh38]
ChrX:119581851..119581858 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.1093+2450G>A single nucleotide variant Danon disease [RCV000638585]|not specified [RCV000155797] ChrX:120439280 [GRCh38]
ChrX:119573135 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity
NM_013995.2(LAMP2):c.-33C>T single nucleotide variant Danon disease [RCV001168937]|not specified [RCV000126567] ChrX:120469202 [GRCh38]
ChrX:119603057 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.-27C>T single nucleotide variant not specified [RCV000126568] ChrX:120469196 [GRCh38]
ChrX:119603051 [GRCh37]
ChrX:Xq24
benign
NM_002294.3(LAMP2):c.-10C>T single nucleotide variant not specified [RCV000126569] ChrX:120469179 [GRCh38]
ChrX:119603034 [GRCh37]
ChrX:Xq24
benign|conflicting interpretations of pathogenicity
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4 copy number gain See cases [RCV000133654] ChrX:10679..156022826 [GRCh38]
ChrX:60679..155252491 [GRCh37]
ChrX:679..154905685 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1 copy number loss See cases [RCV000133792] ChrX:10701..155978689 [GRCh38]
ChrX:60701..155208354 [GRCh37]
ChrX:701..154861548 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3 copy number gain See cases [RCV000050385] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1 copy number loss See cases [RCV000050386] ChrX:10679..156013167 [GRCh38]
ChrX:60679..155242832 [GRCh37]
ChrX:679..154896026 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1 copy number loss See cases [RCV000052982] ChrX:14245..155999293 [GRCh38]
ChrX:64245..155228958 [GRCh37]
ChrX:4245..154882152 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3 copy number gain See cases [RCV000052984] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1 copy number loss See cases [RCV000052986] ChrX:26102..155996431 [GRCh38]
ChrX:76102..155226096 [GRCh37]
ChrX:16102..154879290 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3 copy number gain See cases [RCV000133744] ChrX:85123740..156022206 [GRCh38]
ChrX:84378746..155251871 [GRCh37]
ChrX:84265402..154905065 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3 copy number gain See cases [RCV000134564] ChrX:20297..155999253 [GRCh38]
ChrX:70297..155228918 [GRCh37]
ChrX:10297..154882112 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1 copy number loss See cases [RCV000134570] ChrX:78605009..156016560 [GRCh38]
ChrX:77860506..155246225 [GRCh37]
ChrX:77747162..154899419 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1 copy number loss See cases [RCV000133947] ChrX:10701..156003242 [GRCh38]
ChrX:60701..155232907 [GRCh37]
ChrX:701..154886101 [NCBI36]
ChrX:Xp22.33-q28
pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3 copy number gain See cases [RCV000134025] ChrX:62712230..155978888 [GRCh38]
ChrX:61931700..155208553 [GRCh37]
ChrX:61848425..154861747 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1 copy number loss See cases [RCV000135300] ChrX:37076284..156016920 [GRCh38]
ChrX:37094357..155246585 [GRCh37]
ChrX:37004278..154899779 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1 copy number loss See cases [RCV000135321] ChrX:20297..156026127 [GRCh38]
ChrX:70297..155255792 [GRCh37]
ChrX:10297..154908986 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1 copy number loss See cases [RCV000135307] ChrX:92222680..156016920 [GRCh38]
ChrX:91477679..155246585 [GRCh37]
ChrX:91364335..154899779 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1 copy number loss See cases [RCV000134958] ChrX:74510116..156022206 [GRCh38]
ChrX:73729951..155251871 [GRCh37]
ChrX:73646676..154905065 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1 copy number loss See cases [RCV000134947] ChrX:114533139..156022206 [GRCh38]
ChrX:113767592..155251871 [GRCh37]
ChrX:113673848..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xq24(chrX:120274633-121397280)x2 copy number gain See cases [RCV000135683] ChrX:120274633..121397280 [GRCh38]
ChrX:119495353..120531134 [GRCh37]
ChrX:119292516..120358815 [NCBI36]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1 copy number loss See cases [RCV000135552] ChrX:36237706..156022206 [GRCh38]
ChrX:36255823..155251871 [GRCh37]
ChrX:36165744..154905065 [NCBI36]
ChrX:Xp21.1-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1 copy number loss See cases [RCV000135454] ChrX:77369933..156013167 [GRCh38]
ChrX:76634813..155242832 [GRCh37]
ChrX:76507069..154896026 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1 copy number loss See cases [RCV000136478] ChrX:40904..155998166 [GRCh38]
ChrX:90904..155227831 [GRCh37]
ChrX:30904..154881025 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3 copy number gain See cases [RCV000136552] ChrX:94462929..156001635 [GRCh38]
ChrX:93717928..155231300 [GRCh37]
ChrX:93604584..154884494 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1 copy number loss See cases [RCV000136097] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3 copy number gain See cases [RCV000136030] ChrX:111745722..154555423 [GRCh38]
ChrX:110988950..153783638 [GRCh37]
ChrX:110875606..153436832 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708) copy number loss See cases [RCV000136094] ChrX:10701..128393708 [GRCh38]
ChrX:60701..127527686 [GRCh37]
ChrX:701..127355367 [NCBI36]
ChrX:Xp22.33-q25
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1 copy number loss See cases [RCV000136005] ChrX:10001..156030895 [GRCh38]
ChrX:60001..155260560 [GRCh37]
ChrX:1..154913754 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1 copy number loss See cases [RCV000136083] ChrX:79093152..156003229 [GRCh38]
ChrX:78348649..155232894 [GRCh37]
ChrX:78235305..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1 copy number loss See cases [RCV000137113] ChrX:75086417..156022206 [GRCh38]
ChrX:74306252..155251871 [GRCh37]
ChrX:74222977..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2 copy number gain See cases [RCV000136841] ChrX:2782275..155611794 [GRCh38]
ChrX:2700316..154785891 [GRCh37]
ChrX:2710316..154494649 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3 copy number gain See cases [RCV000136791] ChrX:2765636..155522304 [GRCh38]
ChrX:2683677..154751965 [GRCh37]
ChrX:2693677..154405159 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3 copy number gain See cases [RCV000137553] ChrX:62561604..156003242 [GRCh38]
ChrX:61781074..155232907 [GRCh37]
ChrX:61697799..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1 copy number loss See cases [RCV000137415] ChrX:102197284..156003242 [GRCh38]
ChrX:101452257..155232907 [GRCh37]
ChrX:101338913..154886101 [NCBI36]
ChrX:Xq22.1-28
pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1 copy number loss See cases [RCV000137138] ChrX:76604011..156022206 [GRCh38]
ChrX:75824420..155251871 [GRCh37]
ChrX:75740824..154905065 [NCBI36]
ChrX:Xq13.3-28
pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3 copy number gain See cases [RCV000138020] ChrX:95846285..156003242 [GRCh38]
ChrX:95101284..155232907 [GRCh37]
ChrX:94987940..154886101 [NCBI36]
ChrX:Xq21.33-28
pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3 copy number gain See cases [RCV000138145] ChrX:117260292..140201321 [GRCh38]
ChrX:116394255..139283477 [GRCh37]
ChrX:116278283..139111143 [NCBI36]
ChrX:Xq23-27.1
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1 copy number loss See cases [RCV000137887] ChrX:106127173..156003242 [GRCh38]
ChrX:105371166..155232907 [GRCh37]
ChrX:105257822..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1 copy number loss See cases [RCV000138678] ChrX:13020141..143473520 [GRCh38]
ChrX:13038260..142561303 [GRCh37]
ChrX:12948181..142388969 [NCBI36]
ChrX:Xp22.2-q27.3
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1 copy number loss See cases [RCV000138787] ChrX:79911061..156003229 [GRCh38]
ChrX:79166568..155232894 [GRCh37]
ChrX:79053224..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1 copy number loss See cases [RCV000138541] ChrX:106465610..156003242 [GRCh38]
ChrX:105708840..155232907 [GRCh37]
ChrX:105595496..154886101 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1 copy number loss See cases [RCV000139278] ChrX:1085618..155699644 [GRCh38]
ChrX:1118268..154929305 [GRCh37]
ChrX:1038268..154582499 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1 copy number loss See cases [RCV000139400] ChrX:82211310..156003229 [GRCh38]
ChrX:81466759..155232894 [GRCh37]
ChrX:81353415..154886088 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1 copy number loss See cases [RCV000139351] ChrX:88339926..156003242 [GRCh38]
ChrX:87594927..155232907 [GRCh37]
ChrX:87481583..154886101 [NCBI36]
ChrX:Xq21.31-28
pathogenic|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3 copy number gain See cases [RCV000139416] ChrX:62712219..156003242 [GRCh38]
ChrX:61931689..155232907 [GRCh37]
ChrX:61848414..154886101 [NCBI36]
ChrX:Xq11.1-28
pathogenic|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3 copy number gain See cases [RCV000139888] ChrX:251880..156004181 [GRCh38]
ChrX:168547..155233846 [GRCh37]
ChrX:108547..154887040 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3 copy number gain See cases [RCV000141400] ChrX:2299223..155992188 [GRCh38]
ChrX:2217264..155221853 [GRCh37]
ChrX:2227264..154875047 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3 copy number gain See cases [RCV000141401] ChrX:20297..156016920 [GRCh38]
ChrX:70297..155246585 [GRCh37]
ChrX:10297..154899779 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4 copy number gain See cases [RCV000140786] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1 copy number loss See cases [RCV000140787] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1 copy number loss See cases [RCV000141825] ChrX:82096719..156004066 [GRCh38]
ChrX:81352168..155233731 [GRCh37]
ChrX:81238824..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1 copy number loss See cases [RCV000142016] ChrX:89557622..156004066 [GRCh38]
ChrX:88812621..155233731 [GRCh37]
ChrX:88699277..154886925 [NCBI36]
ChrX:Xq21.31-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1 copy number loss See cases [RCV000141743] ChrX:119297670..156004066 [GRCh38]
ChrX:118431633..155233731 [GRCh37]
ChrX:118315661..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1 copy number loss See cases [RCV000142337] ChrX:78187188..156004066 [GRCh38]
ChrX:77442685..155233731 [GRCh37]
ChrX:77329341..154886925 [NCBI36]
ChrX:Xq21.1-28
pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1 copy number loss See cases [RCV000142137] ChrX:118856574..156004066 [GRCh38]
ChrX:117990537..155233731 [GRCh37]
ChrX:117874565..154886925 [NCBI36]
ChrX:Xq24-28
pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1 copy number loss See cases [RCV000142037] ChrX:86626431..156004066 [GRCh38]
ChrX:85881434..155233731 [GRCh37]
ChrX:85768090..154886925 [NCBI36]
ChrX:Xq21.2-28
pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1 copy number loss See cases [RCV000142190] ChrX:106722296..156004066 [GRCh38]
ChrX:105965526..155233731 [GRCh37]
ChrX:105852182..154886925 [NCBI36]
ChrX:Xq22.3-28
pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1 copy number loss See cases [RCV000142577] ChrX:111050385..156022206 [GRCh38]
ChrX:110293613..155251871 [GRCh37]
ChrX:110180269..154905065 [NCBI36]
ChrX:Xq23-28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3 copy number gain See cases [RCV000142625] ChrX:10701..156003229 [GRCh38]
ChrX:60701..155232894 [GRCh37]
ChrX:701..154886088 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1 copy number loss See cases [RCV000143424] ChrX:74684615..156004066 [GRCh38]
ChrX:73904450..155233731 [GRCh37]
ChrX:73821175..154886925 [NCBI36]
ChrX:Xq13.2-28
pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1 copy number loss See cases [RCV000143349] ChrX:53144751..156003242 [GRCh38]
ChrX:53321095..155232907 [GRCh37]
ChrX:53190658..154886101 [NCBI36]
ChrX:Xp11.22-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1 copy number loss See cases [RCV000143441] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:108546..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3 copy number gain See cases [RCV000143433] ChrX:251879..156004066 [GRCh38]
ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3 copy number gain See cases [RCV000143219] ChrX:251880..156004066 [GRCh38]
ChrX:168547..155233731 [GRCh37]
ChrX:108547..154886925 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xq24(chrX:120255501-120553935)x2 copy number gain See cases [RCV000143266] ChrX:120255501..120553935 [GRCh38]
ChrX:119495353..119687790 [GRCh37]
ChrX:119273384..119571818 [NCBI36]
ChrX:Xq24
uncertain significance
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1 copy number loss See cases [RCV000143132] ChrX:76557425..156004066 [GRCh38]
ChrX:75777833..155233731 [GRCh37]
ChrX:75694237..154886925 [NCBI36]
ChrX:Xq13.3-28
pathogenic
NM_013995.2(LAMP2):c.1020del (p.Gly341fs) deletion Primary dilated cardiomyopathy [RCV000155777] ChrX:120441803 [GRCh38]
ChrX:119575658 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.121del (p.Cys41fs) deletion Danon disease [RCV000155846] ChrX:120456713 [GRCh38]
ChrX:119590568 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.1193T>C (p.Ile398Thr) single nucleotide variant not specified [RCV000155884] ChrX:120431363 [GRCh38]
ChrX:119565218 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.851_852del (p.Phe284fs) deletion Danon disease [RCV000155911] ChrX:120446317..120446318 [GRCh38]
ChrX:119580172..119580173 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.1093+1G>A single nucleotide variant Danon disease [RCV000156041]|not provided [RCV000522279] ChrX:120441729 [GRCh38]
ChrX:119575584 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.277G>A (p.Gly93Arg) single nucleotide variant not specified [RCV000156356] ChrX:120455477 [GRCh38]
ChrX:119589332 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_002294.3(LAMP2):c.1211A>T (p.His404Leu) single nucleotide variant not specified [RCV000156362] ChrX:120431345 [GRCh38]
ChrX:119565200 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.2(LAMP2):c.(?_929)_(1233_?)del deletion Danon disease [RCV000156447] ChrX:120431323..120441894 [GRCh38]
ChrX:119565178..119575749 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.1117G>A (p.Asp373Asn) single nucleotide variant not specified [RCV000150910] ChrX:120431439 [GRCh38]
ChrX:119565294 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.877C>T (p.Arg293Ter) single nucleotide variant Danon disease [RCV000150911]|Danon disease [RCV000844639]|not provided [RCV000255646] ChrX:120442650 [GRCh38]
ChrX:119576505 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.864+1G>T single nucleotide variant Danon disease [RCV000150912]|not provided [RCV000157972] ChrX:120446304 [GRCh38]
ChrX:119580159 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.183+1G>A single nucleotide variant Danon disease [RCV000150913]|Hypertrophic cardiomyopathy [RCV000844641] ChrX:120456650 [GRCh38]
ChrX:119590505 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_002294.3(LAMP2):c.65-13T>A single nucleotide variant not specified [RCV000150914] ChrX:120456782 [GRCh38]
ChrX:119590637 [GRCh37]
ChrX:Xq24
conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) single nucleotide variant Danon disease [RCV001079410]|not provided [RCV000535295]|not specified [RCV000150915] ChrX:120469128 [GRCh38]
ChrX:119602983 [GRCh37]
ChrX:Xq24
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.32G>T (p.Gly11Val) single nucleotide variant Danon disease [RCV000816392]|Primary dilated cardiomyopathy [RCV000157283]|not specified [RCV000150916] ChrX:120469138 [GRCh38]
ChrX:119602993 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.929-1G>A single nucleotide variant Danon disease [RCV000154245]|not provided [RCV000786340] ChrX:120441895 [GRCh38]
ChrX:119575750 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.128_129dup (p.Ala44fs) duplication Danon disease [RCV000154670] ChrX:120456704..120456705 [GRCh38]
ChrX:119590559..119590560 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.999del (p.Glu334fs) deletion Primary dilated cardiomyopathy [RCV000155721] ChrX:120441824 [GRCh38]
ChrX:119575679 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3 copy number gain See cases [RCV000148141] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1 copy number loss See cases [RCV000148135] ChrX:10679..156022206 [GRCh38]
ChrX:60679..155251871 [GRCh37]
ChrX:679..154905065 [NCBI36]
ChrX:Xp22.33-q28
pathogenic
NM_002294.3(LAMP2):c.*15T>C single nucleotide variant not specified [RCV000155795] ChrX:120431308 [GRCh38]
ChrX:119565163 [GRCh37]
ChrX:Xq24
likely benign|not provided
NM_002294.3(LAMP2):c.1093+2589C>T single nucleotide variant not specified [RCV000155796] ChrX:120439141 [GRCh38]
ChrX:119572996 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity
NM_002294.2:c.183+2insT insertion Danon disease [RCV000157982] ChrX:Xq24 pathogenic
NM_001122606.1(LAMP2):c.1094-2793A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000157284] ChrX:120431419 [GRCh38]
ChrX:119565274 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.929-5T>C single nucleotide variant Danon disease [RCV000542265]|Trifascicular block on electrocardiogram [RCV000157285] ChrX:120441899 [GRCh38]
ChrX:119575754 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_013995.2(LAMP2):c.65-12A>T single nucleotide variant not specified [RCV000157952] ChrX:120456781 [GRCh38]
ChrX:119590636 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.340G>A (p.Val114Ile) single nucleotide variant not specified [RCV000157953] ChrX:120455414 [GRCh38]
ChrX:119589269 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.605A>C (p.His202Pro) single nucleotide variant not specified [RCV000157954] ChrX:120447977 [GRCh38]
ChrX:119581832 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.742-16TCT[2] microsatellite Danon disease [RCV000157956]|Danon disease [RCV000864013] ChrX:120446435..120446437 [GRCh38]
ChrX:119580290..119580292 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.797G>A (p.Arg266His) single nucleotide variant Danon disease [RCV001078726]|not provided [RCV000157957] ChrX:120446372 [GRCh38]
ChrX:119580227 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122606.1(LAMP2):c.-39_-31delCGCCGCCGT deletion Danon disease [RCV000157958] ChrX:120469200..120469208 [GRCh38]
ChrX:119603055..119603063 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.73C>T (p.Arg25Trp) single nucleotide variant Cardiovascular phenotype [RCV000621632]|Danon disease [RCV000707593]|not provided [RCV000157960] ChrX:120456761 [GRCh38]
ChrX:119590616 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.183+5G>A single nucleotide variant not provided [RCV000157961] ChrX:120456646 [GRCh38]
ChrX:119590501 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.364G>A (p.Asp122Asn) single nucleotide variant not provided [RCV000585174] ChrX:120455390 [GRCh38]
ChrX:119589245 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.385G>A (p.Ala129Thr) single nucleotide variant Danon disease [RCV001079583]|not provided [RCV000724029]|not specified [RCV000157965] ChrX:120455369 [GRCh38]
ChrX:119589224 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013995.2(LAMP2):c.715C>G (p.Leu239Val) single nucleotide variant not provided [RCV000157967] ChrX:120447867 [GRCh38]
ChrX:119581722 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.737A>G (p.Asp246Gly) single nucleotide variant Danon disease [RCV000813297] ChrX:120447845 [GRCh38]
ChrX:119581700 [GRCh37]
ChrX:Xq24
likely pathogenic|uncertain significance
NM_013995.2(LAMP2):c.795C>A (p.Cys265Ter) single nucleotide variant Danon disease [RCV000208028]|not provided [RCV000157969] ChrX:120446374 [GRCh38]
ChrX:119580229 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
NM_002294.2(LAMP2):c.830G>A (p.Ser277Asn) single nucleotide variant Danon disease [RCV000157970] ChrX:120446339 [GRCh38]
ChrX:119580194 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.864+1G>A single nucleotide variant not provided [RCV000157971] ChrX:120446304 [GRCh38]
ChrX:119580159 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.864+2T>C single nucleotide variant not provided [RCV000157973] ChrX:120446303 [GRCh38]
ChrX:119580158 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.887T>C (p.Leu296Pro) single nucleotide variant not provided [RCV000157974] ChrX:120442640 [GRCh38]
ChrX:119576495 [GRCh37]
ChrX:Xq24
likely pathogenic|uncertain significance
NM_013995.2(LAMP2):c.1040C>G (p.Thr347Ser) single nucleotide variant not provided [RCV000767120]|not specified [RCV000157975] ChrX:120441783 [GRCh38]
ChrX:119575638 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.1135A>G (p.Ile379Val) single nucleotide variant not provided [RCV000466553]|not specified [RCV000157976] ChrX:120439252 [GRCh38]
ChrX:119573107 [GRCh37]
ChrX:Xq24
benign|likely benign|uncertain significance
NM_013995.2(LAMP2):c.1189G>A (p.Val397Ile) single nucleotide variant Danon disease [RCV000456636] ChrX:120439198 [GRCh38]
ChrX:119573053 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_002294.3(LAMP2):c.1142T>C (p.Val381Ala) single nucleotide variant Cardiomyopathy [RCV000769546]|Cardiovascular phenotype [RCV000620832]|Danon disease [RCV000638582]|not specified [RCV000157978] ChrX:120431414 [GRCh38]
ChrX:119565269 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_013995.2(LAMP2):c.8G>A (p.Cys3Tyr) single nucleotide variant not provided [RCV000157979] ChrX:120469162 [GRCh38]
ChrX:119603017 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.64+2T>A single nucleotide variant not provided [RCV000157980] ChrX:120469104 [GRCh38]
ChrX:119602959 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.2(LAMP2):c.536delA (p.Asn179Metfs) deletion Danon disease [RCV000157983] ChrX:120448990 [GRCh38]
ChrX:119582845 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.584_588dup (p.Val197fs) duplication Danon disease [RCV000157984] ChrX:120447993..120447994 [GRCh38]
ChrX:119581848..119581849 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.651dup (p.Pro218fs) duplication not provided [RCV000157985] ChrX:120447930..120447931 [GRCh38]
ChrX:119581785..119581786 [GRCh37]
ChrX:Xq24
pathogenic
NM_001122606.1(LAMP2):c.1094-2813_1094-2811del microsatellite not provided [RCV000157987] ChrX:120431437..120431439 [GRCh38]
ChrX:119565292..119565294 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.-26_-15dup duplication Danon disease [RCV000157988] ChrX:120469183..120469184 [GRCh38]
ChrX:119603038..119603039 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.65-1G>C single nucleotide variant Danon disease [RCV001208408]|not provided [RCV000157989] ChrX:120456770 [GRCh38]
ChrX:119590625 [GRCh37]
ChrX:Xq24
pathogenic|likely pathogenic
NM_013995.2(LAMP2):c.320C>G (p.Ser107Cys) single nucleotide variant Cardiovascular phenotype [RCV000621428]|not provided [RCV000157990] ChrX:120455434 [GRCh38]
ChrX:119589289 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.974del (p.Leu325fs) deletion not provided [RCV000157991] ChrX:120441849 [GRCh38]
ChrX:119575704 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3 copy number gain See cases [RCV000240122] ChrX:71267..155246643 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3 copy number gain See cases [RCV000240143] ChrX:62063537..155246643 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3 copy number gain See cases [RCV000239843] ChrX:176426..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_001122606.1(LAMP2):c.1094-2790G>A single nucleotide variant Danon disease [RCV000546272] ChrX:120431416 [GRCh38]
ChrX:119565271 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1 copy number loss See cases [RCV000239832] ChrX:71267..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3 copy number gain See cases [RCV000239798] ChrX:13147668..155250222 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_001122606.1(LAMP2):c.1094-2795A>G single nucleotide variant Primary familial hypertrophic cardiomyopathy [RCV000208215] ChrX:120431421 [GRCh38]
ChrX:119565276 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.912T>G (p.Tyr304Ter) single nucleotide variant Danon disease [RCV000219626] ChrX:120442615 [GRCh38]
ChrX:119576470 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.398-7T>C single nucleotide variant not specified [RCV000213250] ChrX:120449135 [GRCh38]
ChrX:119582990 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.610A>C (p.Thr204Pro) single nucleotide variant not specified [RCV000220438] ChrX:120447972 [GRCh38]
ChrX:119581827 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.813A>G (p.Leu271=) single nucleotide variant not specified [RCV000220594] ChrX:120446356 [GRCh38]
ChrX:119580211 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.602T>C (p.Ile201Thr) single nucleotide variant not specified [RCV000216028] ChrX:120447980 [GRCh38]
ChrX:119581835 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.276C>T (p.Phe92=) single nucleotide variant Danon disease [RCV000638584]|not specified [RCV000220890] ChrX:120455478 [GRCh38]
ChrX:119589333 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.1093+2565C>G single nucleotide variant not specified [RCV000222752] ChrX:120439165 [GRCh38]
ChrX:119573020 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.657A>G (p.Glu219=) single nucleotide variant not specified [RCV000216305] ChrX:120447925 [GRCh38]
ChrX:119581780 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.2(LAMP2):c.(?_398)-60_(741_?)+68del deletion Danon disease [RCV000214681] ChrX:120447773..120449188 [GRCh38]
ChrX:119581628..119583043 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_002294.3(LAMP2):c.294G>A (p.Trp98Ter) single nucleotide variant Danon disease [RCV000223450]|not provided [RCV000788415] ChrX:120455460 [GRCh38]
ChrX:119589315 [GRCh37]
ChrX:Xq24
pathogenic
NM_001122606.1(LAMP2):c.(?_1094)_(1236_?)del deletion not specified [RCV000219356] ChrX:120428484..120428626 [GRCh38]
ChrX:119562339..119562481 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1 copy number loss Premature ovarian failure [RCV000225336] ChrX:99931059..120328627 [GRCh37]
ChrX:Xq22.1-24
pathogenic
NM_001122606.1(LAMP2):c.1094-2729A>G single nucleotide variant not specified [RCV000223895] ChrX:120431355 [GRCh38]
ChrX:119565210 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.23C>T (p.Pro8Leu) single nucleotide variant Danon disease [RCV000234637]|not provided [RCV000786341] ChrX:120469147 [GRCh38]
ChrX:119603002 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.504C>T (p.Tyr168=) single nucleotide variant Danon disease [RCV000228206]|not specified [RCV000433694] ChrX:120449022 [GRCh38]
ChrX:119582877 [GRCh37]
ChrX:Xq24
benign|likely benign
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2 copy number gain See cases [RCV000240106] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3 copy number gain See cases [RCV000239989] ChrX:60701..155246271 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1 copy number loss See cases [RCV000239902] ChrX:71267..155224766 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013995.2(LAMP2):c.300G>T (p.Ala100=) single nucleotide variant Cardiovascular phenotype [RCV000621341] ChrX:120455454 [GRCh38]
ChrX:119589309 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2 copy number gain See cases [RCV000239874] ChrX:71267..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1 copy number loss See cases [RCV000446026] ChrX:553069..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3 copy number gain See cases [RCV000239934] ChrX:70297..155255839 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3 copy number gain See cases [RCV000240552] ChrX:176426..155236656 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013995.2(LAMP2):c.1091C>T (p.Thr364Ile) single nucleotide variant Cardiovascular phenotype [RCV000243756]|Danon disease [RCV000601467] ChrX:120441732 [GRCh38]
ChrX:119575587 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2 copy number gain See cases [RCV000240464] ChrX:225816..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3 copy number gain See cases [RCV000240314] ChrX:150002..155234036 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NC_000023.10:g.(?_118986730)_(119603030_?)dup duplication Danon disease [RCV000258048] ChrX:118986730..119603030 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3 copy number gain See cases [RCV000240148] ChrX:62063537..155250222 [GRCh37]
ChrX:Xq11.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2 copy number gain See cases [RCV000240541] ChrX:2707626..155250222 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013995.2(LAMP2):c.183T>C (p.Tyr61=) single nucleotide variant Cardiovascular phenotype [RCV000250402] ChrX:120456651 [GRCh38]
ChrX:119590506 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.300G>C (p.Ala100=) single nucleotide variant Cardiovascular phenotype [RCV000252818] ChrX:120455454 [GRCh38]
ChrX:119589309 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.887T>G (p.Leu296Arg) single nucleotide variant Cardiovascular phenotype [RCV000252925]|Danon disease [RCV001203689] ChrX:120442640 [GRCh38]
ChrX:119576495 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.1069G>A (p.Val357Met) single nucleotide variant Cardiovascular phenotype [RCV000250661]|Danon disease [RCV001037366] ChrX:120441754 [GRCh38]
ChrX:119575609 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.*848T>C single nucleotide variant Danon disease [RCV000358232]|Hypertrophic cardiomyopathy [RCV000266695] ChrX:120427636 [GRCh38]
ChrX:119561491 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.*2124del deletion Danon disease [RCV000283839]|Hypertrophic cardiomyopathy [RCV000321447] ChrX:120426360 [GRCh38]
ChrX:119560215 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-535G>A single nucleotide variant Danon disease [RCV000303742]|Hypertrophic cardiomyopathy [RCV000358509] ChrX:120429161 [GRCh38]
ChrX:119563016 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-1108A>G single nucleotide variant Danon disease [RCV000341559]|Hypertrophic cardiomyopathy [RCV000286681] ChrX:120429734 [GRCh38]
ChrX:119563589 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*508_*511GTTA[1] microsatellite Danon disease [RCV000292702]|Hypertrophic cardiomyopathy [RCV000384699] ChrX:120427969..120427972 [GRCh38]
ChrX:119561824..119561827 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-302A>G single nucleotide variant Danon disease [RCV000332910]|Hypertrophic cardiomyopathy [RCV000275242] ChrX:120428928 [GRCh38]
ChrX:119562783 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*850T>C single nucleotide variant Danon disease [RCV000319729]|Hypertrophic cardiomyopathy [RCV000262187] ChrX:120427634 [GRCh38]
ChrX:119561489 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.*1723A>G single nucleotide variant Danon disease [RCV000297650]|Hypertrophic cardiomyopathy [RCV000354659] ChrX:120426761 [GRCh38]
ChrX:119560616 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-2664A>G single nucleotide variant Danon disease [RCV000268609]|Hypertrophic cardiomyopathy [RCV000363233] ChrX:120431290 [GRCh38]
ChrX:119565145 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.1094-1976A>C single nucleotide variant Danon disease [RCV000324590]|Hypertrophic cardiomyopathy [RCV000270200] ChrX:120430602 [GRCh38]
ChrX:119564457 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-173T>C single nucleotide variant Danon disease [RCV000364055]|Hypertrophic cardiomyopathy [RCV000271587] ChrX:120428799 [GRCh38]
ChrX:119562654 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.1094-1626G>T single nucleotide variant Danon disease [RCV000273707]|Hypertrophic cardiomyopathy [RCV000368358] ChrX:120430252 [GRCh38]
ChrX:119564107 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-1025C>T single nucleotide variant Danon disease [RCV000275332]|Hypertrophic cardiomyopathy [RCV000330194] ChrX:120429651 [GRCh38]
ChrX:119563506 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-2400A>C single nucleotide variant Danon disease [RCV000366688]|Hypertrophic cardiomyopathy [RCV000311869] ChrX:120431026 [GRCh38]
ChrX:119564881 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*1832C>T single nucleotide variant Danon disease [RCV000406752]|Hypertrophic cardiomyopathy [RCV000312905] ChrX:120426652 [GRCh38]
ChrX:119560507 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-1601T>C single nucleotide variant Danon disease [RCV000313717]|Hypertrophic cardiomyopathy [RCV000393074] ChrX:120430227 [GRCh38]
ChrX:119564082 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*2333A>G single nucleotide variant Danon disease [RCV000334021]|Hypertrophic cardiomyopathy [RCV000276642] ChrX:120426151 [GRCh38]
ChrX:119560006 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-436A>G single nucleotide variant Danon disease [RCV000389760]|Hypertrophic cardiomyopathy [RCV000278927] ChrX:120429062 [GRCh38]
ChrX:119562917 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*2199A>G single nucleotide variant Danon disease [RCV000319063]|Hypertrophic cardiomyopathy [RCV000375907] ChrX:120426285 [GRCh38]
ChrX:119560140 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*1740A>G single nucleotide variant Danon disease [RCV000369947]|Hypertrophic cardiomyopathy [RCV000404849] ChrX:120426744 [GRCh38]
ChrX:119560599 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*410T>C single nucleotide variant Danon disease [RCV000349932]|Hypertrophic cardiomyopathy [RCV000399713] ChrX:120428074 [GRCh38]
ChrX:119561929 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.1094-2111A>G single nucleotide variant Danon disease [RCV000281192]|Hypertrophic cardiomyopathy [RCV000336202] ChrX:120430737 [GRCh38]
ChrX:119564592 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-514T>C single nucleotide variant Danon disease [RCV000282629]|Hypertrophic cardiomyopathy [RCV000340070] ChrX:120429140 [GRCh38]
ChrX:119562995 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.1094-2044A>G single nucleotide variant Danon disease [RCV000375482]|Hypertrophic cardiomyopathy [RCV000321104] ChrX:120430670 [GRCh38]
ChrX:119564525 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-1844G>A single nucleotide variant Danon disease [RCV000328798]|Hypertrophic cardiomyopathy [RCV000364717] ChrX:120430470 [GRCh38]
ChrX:119564325 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-237A>G single nucleotide variant Danon disease [RCV000385952]|Hypertrophic cardiomyopathy [RCV000329055] ChrX:120428863 [GRCh38]
ChrX:119562718 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-2005G>A single nucleotide variant Danon disease [RCV000284740]|Hypertrophic cardiomyopathy [RCV000379098] ChrX:120430631 [GRCh38]
ChrX:119564486 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.*838C>A single nucleotide variant Danon disease [RCV000381034]|Hypertrophic cardiomyopathy [RCV000324163] ChrX:120427646 [GRCh38]
ChrX:119561501 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.1048C>G (p.Leu350Val) single nucleotide variant Danon disease [RCV000323648]|Hypertrophic cardiomyopathy [RCV000359701] ChrX:120441775 [GRCh38]
ChrX:119575630 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-2492C>T single nucleotide variant Danon disease [RCV000408349]|Hypertrophic cardiomyopathy [RCV000308521] ChrX:120431118 [GRCh38]
ChrX:119564973 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*2122A>G single nucleotide variant Danon disease [RCV000286347]|Hypertrophic cardiomyopathy [RCV000378365] ChrX:120426362 [GRCh38]
ChrX:119560217 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.*620_*622GTT[3] microsatellite Danon disease [RCV000288949]|Hypertrophic cardiomyopathy [RCV000327789] ChrX:120427853..120427855 [GRCh38]
ChrX:119561708..119561710 [GRCh37]
ChrX:Xq24
likely benign
NM_001122606.1(LAMP2):c.1094-1065A>G single nucleotide variant Danon disease [RCV000384770]|Hypertrophic cardiomyopathy [RCV000290570] ChrX:120429691 [GRCh38]
ChrX:119563546 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.*1924A>T single nucleotide variant Danon disease [RCV000347996]|Hypertrophic cardiomyopathy [RCV000290759] ChrX:120426560 [GRCh38]
ChrX:119560415 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-1005dup duplication Danon disease [RCV000333870]|Hypertrophic cardiomyopathy [RCV000388485] ChrX:120429621..120429622 [GRCh38]
ChrX:119563476..119563477 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.157C>T (p.Arg53Cys) single nucleotide variant Danon disease [RCV000400396]|Hypertrophic cardiomyopathy [RCV000291818]|not specified [RCV000419025] ChrX:120456677 [GRCh38]
ChrX:119590532 [GRCh37]
ChrX:Xq24
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122606.1(LAMP2):c.1094-692C>G single nucleotide variant Danon disease [RCV000259973]|Hypertrophic cardiomyopathy [RCV000354959] ChrX:120429318 [GRCh38]
ChrX:119563173 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.*409G>A single nucleotide variant Danon disease [RCV000334339]|Hypertrophic cardiomyopathy [RCV000295700] ChrX:120428075 [GRCh38]
ChrX:119561930 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-2211A>G single nucleotide variant Danon disease [RCV000296632]|Hypertrophic cardiomyopathy [RCV000398772] ChrX:120430837 [GRCh38]
ChrX:119564692 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-502T>C single nucleotide variant Danon disease [RCV000374811]|Hypertrophic cardiomyopathy [RCV000336362] ChrX:120429128 [GRCh38]
ChrX:119562983 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.*2209A>T single nucleotide variant Danon disease [RCV000353787]|Hypertrophic cardiomyopathy [RCV000261482] ChrX:120426275 [GRCh38]
ChrX:119560130 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_013995.2(LAMP2):c.-154T>C single nucleotide variant Danon disease [RCV000262006]|Hypertrophic cardiomyopathy [RCV000356730] ChrX:120469323 [GRCh38]
ChrX:119603178 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.-168dup duplication Danon disease [RCV000353405]|Hypertrophic cardiomyopathy [RCV000298488] ChrX:120469336..120469337 [GRCh38]
ChrX:119603191..119603192 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-1506A>T single nucleotide variant Danon disease [RCV000352913]|Hypertrophic cardiomyopathy [RCV000298578] ChrX:120430132 [GRCh38]
ChrX:119563987 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-549AT[9] microsatellite Danon disease [RCV000392873]|Hypertrophic cardiomyopathy [RCV000343608] ChrX:120429161..120429162 [GRCh38]
ChrX:119563016..119563017 [GRCh37]
ChrX:Xq24
likely benign
NM_001122606.1(LAMP2):c.*2019A>G single nucleotide variant Danon disease [RCV000401846]|Hypertrophic cardiomyopathy [RCV000343697] ChrX:120426465 [GRCh38]
ChrX:119560320 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-1080C>T single nucleotide variant Danon disease [RCV000381093]|Hypertrophic cardiomyopathy [RCV000345490] ChrX:120429706 [GRCh38]
ChrX:119563561 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-1383T>C single nucleotide variant Danon disease [RCV000338214]|Hypertrophic cardiomyopathy [RCV000393071] ChrX:120430009 [GRCh38]
ChrX:119563864 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-549A>G single nucleotide variant Danon disease [RCV000300077]|Hypertrophic cardiomyopathy [RCV000263717] ChrX:120429175 [GRCh38]
ChrX:119563030 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.*192dup duplication Danon disease [RCV000299603]|Hypertrophic cardiomyopathy [RCV000408445] ChrX:120428291..120428292 [GRCh38]
ChrX:119562146..119562147 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.997A>G (p.Lys333Glu) single nucleotide variant Danon disease [RCV000320034]|Hypertrophic cardiomyopathy [RCV000264998] ChrX:120441826 [GRCh38]
ChrX:119575681 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.-103G>C single nucleotide variant Danon disease [RCV000301949]|Hypertrophic cardiomyopathy [RCV000391522] ChrX:120469272 [GRCh38]
ChrX:119603127 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-1341C>G single nucleotide variant Danon disease [RCV000302007]|Hypertrophic cardiomyopathy [RCV000401119] ChrX:120429967 [GRCh38]
ChrX:119563822 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.1133T>A (p.Ile378Asn) single nucleotide variant Danon disease [RCV000303042]|Hypertrophic cardiomyopathy [RCV000360620] ChrX:120428587 [GRCh38]
ChrX:119562442 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-2220T>C single nucleotide variant Danon disease [RCV000351559]|Hypertrophic cardiomyopathy [RCV000408388] ChrX:120430846 [GRCh38]
ChrX:119564701 [GRCh37]
ChrX:Xq24
benign|uncertain significance
NM_001122606.1(LAMP2):c.1094-159A>C single nucleotide variant Danon disease [RCV000268217]|Hypertrophic cardiomyopathy [RCV000307083] ChrX:120428785 [GRCh38]
ChrX:119562640 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-549AT[8] microsatellite Danon disease [RCV000305072]|Hypertrophic cardiomyopathy [RCV000392846] ChrX:120429161..120429162 [GRCh38]
ChrX:119563016..119563017 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.339C>G (p.Ser113Arg) single nucleotide variant Danon disease [RCV000638578]|not provided [RCV000520142] ChrX:120455415 [GRCh38]
ChrX:119589270 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.23C>G (p.Pro8Arg) single nucleotide variant not provided [RCV000523234] ChrX:120469147 [GRCh38]
ChrX:119603002 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2 copy number gain not provided [RCV000488046] ChrX:11692290..121187337 [GRCh37]
ChrX:Xp22.2-q25
uncertain significance
NM_013995.2(LAMP2):c.-38G>C single nucleotide variant not specified [RCV000601267] ChrX:120469207 [GRCh38]
ChrX:119603062 [GRCh37]
ChrX:Xq24
likely benign
NC_000023.11:g.(?_120441710)_(120449148_?)del deletion Danon disease [RCV000638591] ChrX:120441710..120449148 [GRCh38]
ChrX:119575565..119583003 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.1093+2449C>T single nucleotide variant not specified [RCV000599671] ChrX:120439281 [GRCh38]
ChrX:119573136 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.718C>T (p.Gln240Ter) single nucleotide variant not provided [RCV000578815] ChrX:120447864 [GRCh38]
ChrX:119581719 [GRCh37]
ChrX:Xq24
pathogenic
Single allele duplication Syndromic X-linked intellectual disability Lubs type [RCV000768455] ChrX:15323210..153542100 [GRCh37]
ChrX:Xp22.2-q28
pathogenic
NM_013995.2(LAMP2):c.697C>G (p.Leu233Val) single nucleotide variant Danon disease [RCV000638581] ChrX:120447885 [GRCh38]
ChrX:119581740 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.1142T>C (p.Val381Ala) single nucleotide variant Danon disease [RCV000638583] ChrX:120439245 [GRCh38]
ChrX:119573100 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.1075C>T (p.Gln359Ter) single nucleotide variant not provided [RCV000414477] ChrX:120441748 [GRCh38]
ChrX:119575603 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3 copy number gain See cases [RCV000449437] ChrX:168546..154930047 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3 copy number gain See cases [RCV000449330] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792) copy number loss See cases [RCV000449461] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1 copy number loss See cases [RCV000449365] ChrX:94043221..155246585 [GRCh37]
ChrX:Xq21.33-28
pathogenic
NM_013995.2(LAMP2):c.1000G>C (p.Glu334Gln) single nucleotide variant Danon disease [RCV000801420]|not provided [RCV000522587] ChrX:120441823 [GRCh38]
ChrX:119575678 [GRCh37]
ChrX:Xq24
conflicting interpretations of pathogenicity|uncertain significance
NM_013995.2(LAMP2):c.260A>C (p.Lys87Thr) single nucleotide variant Danon disease [RCV001219126]|not provided [RCV000522679] ChrX:120455494 [GRCh38]
ChrX:119589349 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3 copy number gain See cases [RCV000446318] ChrX:95498487..129063677 [GRCh37]
ChrX:Xq21.33-26.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3 copy number gain See cases [RCV000446270] ChrX:60701..155246225 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3 copy number gain See cases [RCV000446471] ChrX:68701338..155233731 [GRCh37]
ChrX:Xq13.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1 copy number loss See cases [RCV000446197] ChrX:71267..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1 copy number loss See cases [RCV000446712] ChrX:2703632..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1 copy number loss See cases [RCV000446667] ChrX:318707..155224707 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1 copy number loss See cases [RCV000447490] ChrX:74787886..155233731 [GRCh37]
ChrX:Xq13.3-28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3 copy number gain See cases [RCV000446151] ChrX:58140271..155046703 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain See cases [RCV000446932] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3 copy number gain See cases [RCV000446310] ChrX:168546..155196888 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3 copy number gain See cases [RCV000447253] ChrX:168546..155081533 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013995.2(LAMP2):c.907A>G (p.Met303Val) single nucleotide variant Danon disease [RCV001218079]|not specified [RCV000420737] ChrX:120442620 [GRCh38]
ChrX:119576475 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_013995.2(LAMP2):c.65-3C>T single nucleotide variant not specified [RCV000427729] ChrX:120456772 [GRCh38]
ChrX:119590627 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1 copy number loss See cases [RCV000445720] ChrX:168566..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
NM_013995.2(LAMP2):c.1093+17C>T single nucleotide variant not specified [RCV000418519] ChrX:120441713 [GRCh38]
ChrX:119575568 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.150C>T (p.Phe50=) single nucleotide variant Danon disease [RCV000921795]|not specified [RCV000421825] ChrX:120456684 [GRCh38]
ChrX:119590539 [GRCh37]
ChrX:Xq24
likely benign
NM_001122606.1(LAMP2):c.1094-2739T>C single nucleotide variant Danon disease [RCV000638589]|not specified [RCV000428950] ChrX:120431365 [GRCh38]
ChrX:119565220 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_013995.2(LAMP2):c.204C>G (p.Asp68Glu) single nucleotide variant Danon disease [RCV000638580]|not specified [RCV000429123] ChrX:120455550 [GRCh38]
ChrX:119589405 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_013995.2(LAMP2):c.65-20A>T single nucleotide variant not specified [RCV000443219] ChrX:120456789 [GRCh38]
ChrX:119590644 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.138G>A (p.Trp46Ter) single nucleotide variant Danon disease [RCV000679872] ChrX:120456696 [GRCh38]
ChrX:119590551 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.74G>A (p.Arg25Gln) single nucleotide variant Cardiomyopathy [RCV000770585]|Danon disease [RCV000864906]|History of neurodevelopmental disorder [RCV000716767]|not specified [RCV000429271] ChrX:120456760 [GRCh38]
ChrX:119590615 [GRCh37]
ChrX:Xq24
benign|likely benign|uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1 copy number loss See cases [RCV000445891] ChrX:105694656..155224707 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_013995.2(LAMP2):c.1093+9C>G single nucleotide variant not specified [RCV000432848] ChrX:120441721 [GRCh38]
ChrX:119575576 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.771T>C (p.Asn257=) single nucleotide variant not specified [RCV000420008] ChrX:120446398 [GRCh38]
ChrX:119580253 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.865-9T>C single nucleotide variant not specified [RCV000440388] ChrX:120442671 [GRCh38]
ChrX:119576526 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.398-4A>G single nucleotide variant not specified [RCV000420517] ChrX:120449132 [GRCh38]
ChrX:119582987 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss See cases [RCV000448393] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4 copy number gain See cases [RCV000448034] ChrX:70297..155255792 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4 copy number gain See cases [RCV000448394] ChrX:72224362..139262228 [GRCh37]
ChrX:Xq13.2-27.1
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1 copy number loss See cases [RCV000448652] ChrX:70297..155246585 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1 copy number loss See cases [RCV000448870] ChrX:55532799..150239235 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_013995.2(LAMP2):c.778C>T (p.His260Tyr) single nucleotide variant Danon disease [RCV000462750] ChrX:120446391 [GRCh38]
ChrX:119580246 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.865-12dup duplication not provided [RCV000459306] ChrX:120442669..120442670 [GRCh38]
ChrX:119576524..119576525 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.1201A>G (p.Arg401Gly) single nucleotide variant Danon disease [RCV000470496] ChrX:120439186 [GRCh38]
ChrX:119573041 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.865-8del deletion Danon disease [RCV000467050] ChrX:120442670 [GRCh38]
ChrX:119576525 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.546_548delinsTA (p.Ser183fs) indel Danon disease [RCV000470635] ChrX:120448978..120448980 [GRCh38]
ChrX:119582833..119582835 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.253G>A (p.Gly85Ser) single nucleotide variant not specified [RCV000480236] ChrX:120455501 [GRCh38]
ChrX:119589356 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.659dup (p.Gly221fs) duplication not provided [RCV000482621] ChrX:120447922..120447923 [GRCh38]
ChrX:119581777..119581778 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.973dup (p.Leu325fs) duplication Danon disease [RCV000471724] ChrX:120441849..120441850 [GRCh38]
ChrX:119575704..119575705 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.1013C>G (p.Ser338Ter) single nucleotide variant Danon disease [RCV000456892] ChrX:120441810 [GRCh38]
ChrX:119575665 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.264A>T (p.Ile88=) single nucleotide variant not provided [RCV000464835] ChrX:120455490 [GRCh38]
ChrX:119589345 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.184-1G>T single nucleotide variant not provided [RCV000478574] ChrX:120455571 [GRCh38]
ChrX:119589426 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.519A>G (p.Val173=) single nucleotide variant Cardiomyopathy [RCV000769550]|Danon disease [RCV000458046] ChrX:120449007 [GRCh38]
ChrX:119582862 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_013995.2(LAMP2):c.962G>A (p.Trp321Ter) single nucleotide variant Danon disease [RCV000465984] ChrX:120441861 [GRCh38]
ChrX:119575716 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.788del (p.Gly263fs) deletion Danon disease [RCV000477190] ChrX:120446381 [GRCh38]
ChrX:119580236 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.929-2A>G single nucleotide variant not provided [RCV000523141] ChrX:120441896 [GRCh38]
ChrX:119575751 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1 copy number loss See cases [RCV000510382] ChrX:168547..151304063 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq24(chrX:119406524-119573123)x3 copy number gain See cases [RCV000510659] ChrX:119406524..119573123 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3 copy number gain See cases [RCV000511787] ChrX:55000501..155230750 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_013995.2(LAMP2):c.769A>G (p.Asn257Asp) single nucleotide variant not provided [RCV000494202] ChrX:120446400 [GRCh38]
ChrX:119580255 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1 copy number loss See cases [RCV000511413] ChrX:31088082..155233731 [GRCh37]
ChrX:Xp21.2-q28
pathogenic
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28
pathogenic
NM_013995.2(LAMP2):c.805A>G (p.Thr269Ala) single nucleotide variant not provided [RCV000494562] ChrX:120446364 [GRCh38]
ChrX:119580219 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1 copy number loss See cases [RCV000511936] ChrX:116621104..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1 copy number loss See cases [RCV000511482] ChrX:79862302..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731) copy number gain See cases [RCV000512020] ChrX:168547..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1 copy number loss See cases [RCV000511490] ChrX:86900388..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
NM_013995.2(LAMP2):c.515T>C (p.Leu172Pro) single nucleotide variant Danon disease [RCV001071530]|not provided [RCV000493367] ChrX:120449011 [GRCh38]
ChrX:119582866 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3 copy number gain See cases [RCV000510826] ChrX:57511767..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3 copy number gain See cases [RCV000511307] ChrX:56457791..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1 copy number loss See cases [RCV000510820] ChrX:78230501..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_013995.2(LAMP2):c.877C>A (p.Arg293=) single nucleotide variant Cardiovascular phenotype [RCV000617609]|not provided [RCV000861793]|not specified [RCV000608711] ChrX:120442650 [GRCh38]
ChrX:119576505 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_013995.2(LAMP2):c.156_157delinsTT (p.Arg53Cys) indel Danon disease [RCV000638587] ChrX:120456677..120456678 [GRCh38]
ChrX:119590532..119590533 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.773C>T (p.Thr258Ile) single nucleotide variant Danon disease [RCV000638579] ChrX:120446396 [GRCh38]
ChrX:119580251 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.461A>G (p.Asn154Ser) single nucleotide variant History of neurodevelopmental disorder [RCV000719788]|not provided [RCV000594056] ChrX:120449065 [GRCh38]
ChrX:119582920 [GRCh37]
ChrX:Xq24
conflicting interpretations of pathogenicity|uncertain significance
NC_000023.11:g.(?_120428464)_(120469189_?)del deletion Danon disease [RCV000638590] ChrX:120428464..120469189 [GRCh38]
ChrX:119562319..119603044 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.972C>G (p.Pro324=) single nucleotide variant not specified [RCV000612219] ChrX:120441851 [GRCh38]
ChrX:119575706 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.742-7_742-5del deletion Danon disease [RCV000866616]|not specified [RCV000609854] ChrX:120446432..120446434 [GRCh38]
ChrX:119580287..119580289 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_001122606.1(LAMP2):c.1094-2791C>T single nucleotide variant not specified [RCV000612641] ChrX:120431417 [GRCh38]
ChrX:119565272 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.864+5G>T single nucleotide variant Cardiovascular phenotype [RCV000617767] ChrX:120446300 [GRCh38]
ChrX:119580155 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.865-13C>T single nucleotide variant not specified [RCV000615545] ChrX:120442675 [GRCh38]
ChrX:119576530 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.214G>A (p.Val72Met) single nucleotide variant Primary dilated cardiomyopathy [RCV001293166]|not specified [RCV000608584] ChrX:120455540 [GRCh38]
ChrX:119589395 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.64+20C>G single nucleotide variant not specified [RCV000604911] ChrX:120469086 [GRCh38]
ChrX:119602941 [GRCh37]
ChrX:Xq24
likely benign
NM_001122606.1(LAMP2):c.1094-2840C>T single nucleotide variant not specified [RCV000599684] ChrX:120431466 [GRCh38]
ChrX:119565321 [GRCh37]
ChrX:Xq24
likely benign
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3 copy number gain See cases [RCV000512365] ChrX:96499476..151870013 [GRCh37]
ChrX:Xq21.33-28
uncertain significance
NM_013995.2(LAMP2):c.601A>G (p.Ile201Val) single nucleotide variant Cardiovascular phenotype [RCV000621662]|Danon disease [RCV001168185] ChrX:120447981 [GRCh38]
ChrX:119581836 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1 copy number loss See cases [RCV000512372] ChrX:98495811..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
NM_013995.2(LAMP2):c.64+4delinsGT indel Cardiovascular phenotype [RCV000621240] ChrX:120469102 [GRCh38]
ChrX:119602957 [GRCh37]
ChrX:Xq24
pathogenic|uncertain significance
NM_013995.2(LAMP2):c.1A>T (p.Met1Leu) single nucleotide variant not provided [RCV000512988] ChrX:120469169 [GRCh38]
ChrX:119603024 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3 copy number gain See cases [RCV000512173] ChrX:57415659..155233731 [GRCh37]
ChrX:Xp11.21-q28
pathogenic
NM_013995.2(LAMP2):c.-23_-16del deletion not provided [RCV000675452] ChrX:120469185..120469192 [GRCh38]
ChrX:119603040..119603047 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.980G>T (p.Ser327Ile) single nucleotide variant Danon disease [RCV000686641] ChrX:120441843 [GRCh38]
ChrX:119575698 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.415_469dup (p.Ser157Ter) duplication Danon disease [RCV000685738] ChrX:120449056..120449057 [GRCh38]
ChrX:119582911..119582912 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1 copy number loss not provided [RCV000684373] ChrX:107823442..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1 copy number loss not provided [RCV000684357] ChrX:91140025..155233731 [GRCh37]
ChrX:Xq21.31-28
pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1 copy number loss not provided [RCV000684363] ChrX:99324651..155233731 [GRCh37]
ChrX:Xq22.1-28
pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3 copy number gain not provided [RCV000684377] ChrX:117998704..140159954 [GRCh37]
ChrX:Xq24-27.1
pathogenic
NM_013995.2(LAMP2):c.263T>C (p.Ile88Thr) single nucleotide variant Danon disease [RCV000699076] ChrX:120455491 [GRCh38]
ChrX:119589346 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.137G>A (p.Trp46Ter) single nucleotide variant Danon disease [RCV000700468] ChrX:120456697 [GRCh38]
ChrX:119590552 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.581C>A (p.Thr194Asn) single nucleotide variant Danon disease [RCV000688944] ChrX:120448001 [GRCh38]
ChrX:119581856 [GRCh37]
ChrX:Xq24
uncertain significance
NM_001122606.1(LAMP2):c.1094-2804C>A single nucleotide variant Danon disease [RCV000685474] ChrX:120431430 [GRCh38]
ChrX:119565285 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.1189G>T (p.Val397Leu) single nucleotide variant Danon disease [RCV000692264] ChrX:120439198 [GRCh38]
ChrX:119573053 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.815T>G (p.Leu272Arg) single nucleotide variant Danon disease [RCV000692414] ChrX:120446354 [GRCh38]
ChrX:119580209 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.843T>G (p.Tyr281Ter) single nucleotide variant Danon disease [RCV000697607] ChrX:120446326 [GRCh38]
ChrX:119580181 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.443A>G (p.Asn148Ser) single nucleotide variant Danon disease [RCV000701278] ChrX:120449083 [GRCh38]
ChrX:119582938 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.576C>T (p.Asp192=) single nucleotide variant History of neurodevelopmental disorder [RCV000719549] ChrX:120448006 [GRCh38]
ChrX:119581861 [GRCh37]
ChrX:Xq24
likely benign
NC_000023.10:g.36649710_136649711del100000002insG indel Heterotaxy, visceral, 1, X-linked [RCV000754886] ChrX:36649710..136649711 [GRCh37]
ChrX:Xp21.1-q26.3
pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1 copy number loss not provided [RCV000753606] ChrX:73472626..155254881 [GRCh37]
ChrX:Xq13.2-28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1 copy number loss not provided [RCV000753271] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3 copy number gain not provided [RCV000753272] ChrX:60262..155245765 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1 copy number loss not provided [RCV000753278] ChrX:181779..155171702 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2 copy number gain not provided [RCV000753277] ChrX:60814..155254881 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
Single allele duplication Autistic disorder of childhood onset [RCV000754365] ChrX:1..156040895 [GRCh38]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2 copy number gain not provided [RCV000753276] ChrX:60814..155236712 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1 copy number loss not provided [RCV000753556] ChrX:61694576..155254881 [GRCh37]
ChrX:Xq11.1-28
pathogenic
NM_002294.3(LAMP2):c.183+8T>C single nucleotide variant not provided [RCV000976955] ChrX:120456643 [GRCh38]
ChrX:119590498 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.429C>T (p.Ile143=) single nucleotide variant not provided [RCV000945127] ChrX:120449097 [GRCh38]
ChrX:119582952 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=) single nucleotide variant not provided [RCV000936135] ChrX:120455400 [GRCh38]
ChrX:119589255 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) single nucleotide variant not provided [RCV000926985] ChrX:120446419 [GRCh38]
ChrX:119580274 [GRCh37]
ChrX:Xq24
benign
NM_002294.3(LAMP2):c.64+1G>C single nucleotide variant Danon disease [RCV001049068] ChrX:120469105 [GRCh38]
ChrX:119602960 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.733C>G (p.Gln245Glu) single nucleotide variant Danon disease [RCV001062490] ChrX:120447849 [GRCh38]
ChrX:119581704 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1 copy number loss not provided [RCV001007322] ChrX:84387417..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117119895-129850963)x2 copy number gain not provided [RCV001007336] ChrX:117119895..129850963 [GRCh37]
ChrX:Xq24-26.1
pathogenic
NM_002294.3(LAMP2):c.380C>T (p.Pro127Leu) single nucleotide variant Danon disease [RCV001035717] ChrX:120455374 [GRCh38]
ChrX:119589229 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.834del (p.Ile279fs) deletion not provided [RCV000788273] ChrX:120446335 [GRCh38]
ChrX:119580190 [GRCh37]
ChrX:Xq24
likely pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1 copy number loss not provided [RCV000847838] ChrX:118150047..155233731 [GRCh37]
ChrX:Xq24-28
pathogenic
NM_013995.2(LAMP2):c.397+6C>G single nucleotide variant Cardiomyopathy [RCV000770583] ChrX:120455351 [GRCh38]
ChrX:119589206 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.453T>C (p.Phe151=) single nucleotide variant Danon disease [RCV000944286] ChrX:120449073 [GRCh38]
ChrX:119582928 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.1093+2524T>C single nucleotide variant not provided [RCV000939417] ChrX:120439206 [GRCh38]
ChrX:119573061 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.42C>G (p.Leu14=) single nucleotide variant not provided [RCV000978878] ChrX:120469128 [GRCh38]
ChrX:119602983 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) single nucleotide variant not provided [RCV000876780] ChrX:120455454 [GRCh38]
ChrX:119589309 [GRCh37]
ChrX:Xq24
benign
NM_002294.3(LAMP2):c.969C>A (p.Ala323=) single nucleotide variant not provided [RCV000980049] ChrX:120441854 [GRCh38]
ChrX:119575709 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) single nucleotide variant Danon disease [RCV000929103] ChrX:120441863 [GRCh38]
ChrX:119575718 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.723G>A (p.Leu241=) single nucleotide variant Cardiomyopathy [RCV000769549] ChrX:120447859 [GRCh38]
ChrX:119581714 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.-7C>T single nucleotide variant not specified [RCV000780373] ChrX:120469176 [GRCh38]
ChrX:119603031 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.959A>G (p.Tyr320Cys) single nucleotide variant Cardiomyopathy [RCV000769547] ChrX:120441864 [GRCh38]
ChrX:119575719 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.770A>G (p.Asn257Ser) single nucleotide variant Cardiomyopathy [RCV000769548] ChrX:120446399 [GRCh38]
ChrX:119580254 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.928+245A>G single nucleotide variant not provided [RCV000831887] ChrX:120442354 [GRCh38]
ChrX:119576209 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.640C>A (p.Pro214Thr) single nucleotide variant Danon disease [RCV000813478] ChrX:120447942 [GRCh38]
ChrX:119581797 [GRCh37]
ChrX:Xq24
likely benign|uncertain significance
NM_013995.2(LAMP2):c.928+4A>G single nucleotide variant Danon disease [RCV000803153] ChrX:120442595 [GRCh38]
ChrX:119576450 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.929-126G>A single nucleotide variant not provided [RCV000834672] ChrX:120442020 [GRCh38]
ChrX:119575875 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.29C>T (p.Pro10Leu) single nucleotide variant Danon disease [RCV000805144] ChrX:120469141 [GRCh38]
ChrX:119602996 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.1093+2538G>A single nucleotide variant not specified [RCV000825946] ChrX:120439192 [GRCh38]
ChrX:119573047 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.1015G>C (p.Val339Leu) single nucleotide variant Danon disease [RCV000807981] ChrX:120441808 [GRCh38]
ChrX:119575663 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.1093+9C>T single nucleotide variant Danon disease [RCV000869789] ChrX:120441721 [GRCh38]
ChrX:119575576 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.2(LAMP2):c.-421T>G single nucleotide variant not provided [RCV000843770] ChrX:120469590 [GRCh38]
ChrX:119603445 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.30G>A (p.Pro10=) single nucleotide variant Danon disease [RCV000800773] ChrX:120469140 [GRCh38]
ChrX:119602995 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.865-221A>T single nucleotide variant not provided [RCV000837163] ChrX:120442883 [GRCh38]
ChrX:119576738 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.865-242C>A single nucleotide variant not provided [RCV000838174] ChrX:120442904 [GRCh38]
ChrX:119576759 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.669T>G (p.Tyr223Ter) single nucleotide variant not provided [RCV000788240] ChrX:120447913 [GRCh38]
ChrX:119581768 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.556+13T>A single nucleotide variant not provided [RCV000788426] ChrX:120448957 [GRCh38]
ChrX:119582812 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1 copy number loss not provided [RCV000846958] ChrX:104098124..155233731 [GRCh37]
ChrX:Xq22.3-28
pathogenic
NM_013995.2(LAMP2):c.865-121C>T single nucleotide variant not provided [RCV000834671] ChrX:120442783 [GRCh38]
ChrX:119576638 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.416A>T (p.Glu139Val) single nucleotide variant Danon disease [RCV000813835] ChrX:120449110 [GRCh38]
ChrX:119582965 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.557-129dup duplication not provided [RCV000832835] ChrX:120448152..120448153 [GRCh38]
ChrX:119582007..119582008 [GRCh37]
ChrX:Xq24
likely benign
NM_002294.3(LAMP2):c.*4664A>G single nucleotide variant Danon disease [RCV001167425] ChrX:120426659 [GRCh38]
ChrX:119560514 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.*2476C>T single nucleotide variant Danon disease [RCV001167498] ChrX:120428847 [GRCh38]
ChrX:119562702 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.*2518A>G single nucleotide variant Danon disease [RCV001167497] ChrX:120428805 [GRCh38]
ChrX:119562660 [GRCh37]
ChrX:Xq24
benign
GRCh37/hg19 Xq24(chrX:119173700-119583001)x2 copy number gain not provided [RCV000845641] ChrX:119173700..119583001 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.*975A>G single nucleotide variant Danon disease [RCV001168870] ChrX:120430348 [GRCh38]
ChrX:119564203 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.-136C>G single nucleotide variant Danon disease [RCV001168938] ChrX:120469305 [GRCh38]
ChrX:119603160 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.*4006G>T single nucleotide variant Danon disease [RCV001168033] ChrX:120427317 [GRCh38]
ChrX:119561172 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1 copy number loss not provided [RCV001007318] ChrX:78444738..155233731 [GRCh37]
ChrX:Xq21.1-28
pathogenic
NM_002294.3(LAMP2):c.*3494A>G single nucleotide variant Danon disease [RCV001168804] ChrX:120427829 [GRCh38]
ChrX:119561684 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.557-251G>T single nucleotide variant not provided [RCV000829142] ChrX:120448276 [GRCh38]
ChrX:119582131 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.-32_-24GTCGCCGCC[3] microsatellite not provided [RCV000829312] ChrX:120469183..120469184 [GRCh38]
ChrX:119603038..119603039 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.188C>T (p.Thr63Ile) single nucleotide variant Danon disease [RCV000794904] ChrX:120455566 [GRCh38]
ChrX:119589421 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.398-110T>G single nucleotide variant not provided [RCV000833684] ChrX:120449238 [GRCh38]
ChrX:119583093 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.65-314G>A single nucleotide variant not provided [RCV000843773] ChrX:120457083 [GRCh38]
ChrX:119590938 [GRCh37]
ChrX:Xq24
benign
NM_013995.2(LAMP2):c.929-293T>C single nucleotide variant not provided [RCV000843775] ChrX:120442187 [GRCh38]
ChrX:119576042 [GRCh37]
ChrX:Xq24
benign
NM_002294.3(LAMP2):c.184-9T>G single nucleotide variant Danon disease [RCV000876578] ChrX:120455579 [GRCh38]
ChrX:119589434 [GRCh37]
ChrX:Xq24
likely benign
NM_013995.2(LAMP2):c.232A>G (p.Ile78Val) single nucleotide variant Danon disease [RCV000808198] ChrX:120455522 [GRCh38]
ChrX:119589377 [GRCh37]
ChrX:Xq24
uncertain significance
NM_013995.2(LAMP2):c.190_191del (p.Val64fs) deletion Danon disease [RCV000786769] ChrX:120455563..120455564 [GRCh38]
ChrX:119589418..119589419 [GRCh37]
ChrX:Xq24
likely pathogenic
NM_013995.2(LAMP2):c.205_218del (p.His69fs) deletion Danon disease [RCV000816924] ChrX:120455536..120455549 [GRCh38]
ChrX:119589391..119589404 [GRCh37]
ChrX:Xq24
pathogenic
NM_013995.2(LAMP2):c.617C>T (p.Pro206Leu) single nucleotide variant Danon disease [RCV000797594] ChrX:120447965 [GRCh38]
ChrX:119581820 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.1093+2230_1093+2233del deletion not provided [RCV000834673] ChrX:120439497..120439500 [GRCh38]
ChrX:119573352..119573355 [GRCh37]
ChrX:Xq24
benign
NM_002294.3(LAMP2):c.*2794T>C single nucleotide variant Danon disease [RCV001165923]|not specified [RCV001256799] ChrX:120428529 [GRCh38]
ChrX:119562384 [GRCh37]
ChrX:Xq24
benign|likely benign
NM_002294.3(LAMP2):c.*4004C>T single nucleotide variant Danon disease [RCV001168034] ChrX:120427319 [GRCh38]
ChrX:119561174 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.629C>A (p.Thr210Lys) single nucleotide variant Danon disease [RCV001168184] ChrX:120447953 [GRCh38]
ChrX:119581808 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.1116C>T (p.Asp372=) single nucleotide variant Danon disease [RCV000976143] ChrX:120431440 [GRCh38]
ChrX:119565295 [GRCh37]
ChrX:Xq24
likely benign
NC_000023.11:g.(?_120431313)_(120470223_?)del deletion Danon disease [RCV001032772] ChrX:119565168..119604078 [GRCh37]
ChrX:Xq24
pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1 copy number loss not provided [RCV000845672] ChrX:92814516..155233731 [GRCh37]
ChrX:Xq21.32-28
pathogenic
NM_002294.3(LAMP2):c.704C>T (p.Ala235Val) single nucleotide variant Danon disease [RCV001224576] ChrX:120447878 [GRCh38]
ChrX:119581733 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.815T>C (p.Leu272Pro) single nucleotide variant Danon disease [RCV001223077] ChrX:120446354 [GRCh38]
ChrX:119580209 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.467T>C (p.Leu156Ser) single nucleotide variant Danon disease [RCV001223140] ChrX:120449059 [GRCh38]
ChrX:119582914 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.235_243delinsGTGG (p.Cys79fs) indel Danon disease [RCV001240064] ChrX:120455511..120455519 [GRCh38]
ChrX:119589366..119589374 [GRCh37]
ChrX:Xq24
pathogenic
NM_002294.3(LAMP2):c.745G>A (p.Ala249Thr) single nucleotide variant Danon disease [RCV001210206] ChrX:120446424 [GRCh38]
ChrX:119580279 [GRCh37]
ChrX:Xq24
uncertain significance
NM_002294.3(LAMP2):c.65-6A>G single nucleotide variant Danon disease [RCV001229291] ChrX:120456775 [GRCh38]
ChrX:119590630 [GRCh37]
ChrX:Xq24
uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1 copy number loss not provided [RCV000848218] ChrX:54941868..155233731 [GRCh37]
ChrX:Xp11.21-q28
uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4 copy number gain not provided [RCV000846039] ChrX:168546..155233731 [GRCh37]
ChrX:Xp22.33-q28
pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1 copy number loss not provided [RCV000846274] ChrX:58455352..155233731 [GRCh37]
ChrX:Xp11.1-q28
pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1 copy number loss not p