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:6501
Description: Enables enzyme binding activity and signaling adaptor activity. Involved in negative regulation of NLRP3 inflammasome complex assembly; protein catabolic process; and regulation of protein stability. Located in several cellular components, including cytoplasmic vesicle membrane; extracellular exosome; and trans-Golgi network. Part of chaperone-mediated autophagy translocation complex. Is active in lysosomal membrane. Implicated in Danon disease and hypertrophic cardiomyopathy.
Type: protein-coding
RefSeq Status: REVIEWED
Previously 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
GRCh38X120,426,148 - 120,469,349 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX120,426,148 - 120,469,365 (-)EnsemblGRCh38hg38GRCh38
GRCh37X119,560,003 - 119,603,204 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,448,709 - 119,487,189 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X119,352,246 - 119,385,043NCBI
CeleraX120,024,817 - 120,068,016 (-)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX109,011,091 - 109,054,565 (-)NCBIHuRef
CHM1_1X119,471,636 - 119,514,850 (-)NCBICHM1_1
T2T-CHM13v2.0X118,801,613 - 118,844,815 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-pilocarpine  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-chloro-2,4-dinitrobenzene  (EXP)
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)
4,4'-sulfonyldiphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP,ISO)
aldehydo-D-glucose  (EXP)
all-trans-retinoic acid  (EXP)
aloxistatin  (EXP)
alpha,alpha-trehalose  (ISO)
amitrole  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
arachidonic acid  (ISO)
aristolochic acid A  (EXP)
Aroclor 1254  (ISO)
arsenite(3-)  (EXP)
atrazine  (EXP)
beauvericin  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bicalutamide  (EXP)
bilirubin IXalpha  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (EXP)
Brusatol  (ISO)
butanal  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
calciol  (ISO)
carbamazepine  (ISO)
carbon nanotube  (ISO)
carnosic acid  (ISO)
chloroquine  (EXP)
cisplatin  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
cobalt dichloride  (EXP)
cocaine  (ISO)
coenzyme Q10  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) chloride  (ISO)
corosolic acid  (ISO)
cyclosporin A  (ISO)
D-glucose  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
Didecyldimethylammonium  (EXP)
dimethyl fumarate  (ISO)
dioxygen  (EXP)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
enniatin  (EXP)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethambutol  (ISO)
ethanol  (EXP,ISO)
ferric oxide  (ISO)
folic acid  (ISO)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glucose  (EXP)
hydrogen peroxide  (ISO)
ivermectin  (EXP)
lead diacetate  (ISO)
lead nitrate  (ISO)
lead(0)  (EXP,ISO)
lipopolysaccharide  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
melatonin  (ISO)
mercury dibromide  (EXP)
methamphetamine  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
methylphenidate  (ISO)
N,N,N',N'-tetrakis(2-pyridylmethyl)ethylenediamine  (EXP,ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nicotine  (EXP)
Nivalenol  (ISO)
ozone  (EXP)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP)
paraquat  (ISO)
pepstatin A  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
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)
streptozocin  (ISO)
sulfadimethoxine  (ISO)
sulforaphane  (EXP,ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
thiophenes  (EXP)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trifloxystrobin  (EXP)
triptonide  (ISO)
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
Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Glycogen storage diseases presenting as hypertrophic cardiomyopathy. Arad M, etal., N Engl J Med. 2005 Jan 27;352(4):362-72.
2. Noggin attenuates cerulein-induced acute pancreatitis and impaired autophagy. Cao Y, etal., Pancreas. 2013 Mar;42(2):301-7. doi: 10.1097/MPA.0b013e31825b9f2c.
3. Effect of autophagy on allodynia, hyperalgesia and astrocyte activation in a rat model of neuropathic pain. Chen H, etal., Int J Mol Med. 2018 Jul 6. doi: 10.3892/ijmm.2018.3763.
4. Chaperone-mediated autophagy: roles in disease and aging. Cuervo AM and Wong E, Cell Res. 2014 Jan;24(1):92-104. doi: 10.1038/cr.2013.153. Epub 2013 Nov 26.
5. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
6. Autophagy signaling in skeletal muscle of infarcted rats. Jannig PR, etal., PLoS One. 2014 Jan 10;9(1):e85820. doi: 10.1371/journal.pone.0085820. eCollection 2014.
7. Characterisation of Lamp2-deficient rats for potential new animal model of Danon disease. Ma S, etal., Sci Rep. 2018 May 2;8(1):6932. doi: 10.1038/s41598-018-24351-w.
8. Overview of macroautophagy regulation in mammalian cells. Mehrpour M, etal., Cell Res. 2010 Jul;20(7):748-62. Epub 2010 Jun 15.
9. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nishino I, etal., Nature. 2000 Aug 24;406(6798):906-10.
10. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
11. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
12. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
13. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
14. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
15. Hepatic interferon regulatory factor 8 expression mediates liver ischemia/reperfusion injury in mice. Shi G, etal., Biochem Pharmacol. 2021 Oct;192:114728. doi: 10.1016/j.bcp.2021.114728. Epub 2021 Aug 13.
16. A Critical Evaluation of Liver Pathology in Humans with Danon Disease and Experimental Correlates in a Rat Model of LAMP-2 Deficiency. Wang L, etal., Clin Rev Allergy Immunol. 2017 Aug;53(1):105-116. doi: 10.1007/s12016-017-8598-3.
17. Chaperone mediated autophagy to the rescue: A new-fangled target for the treatment of neurodegenerative diseases. 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.
18. Danon disease as an underrecognized cause of hypertrophic cardiomyopathy in children. Yang Z, etal., Circulation. 2005 Sep 13;112(11):1612-7. Epub 2005 Sep 6.
19. Effects of DHA on Hippocampal Autophagy and Lysosome Function After Traumatic Brain Injury. 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:11082038   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:21194361   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:24981860  
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:28302793   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  
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PMID:37390818   PMID:37628591  


Genomics

Comparative Map Data
LAMP2
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38X120,426,148 - 120,469,349 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 EnsemblX120,426,148 - 120,469,365 (-)EnsemblGRCh38hg38GRCh38
GRCh37X119,560,003 - 119,603,204 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36X119,448,709 - 119,487,189 (-)NCBINCBI36Build 36hg18NCBI36
Build 34X119,352,246 - 119,385,043NCBI
CeleraX120,024,817 - 120,068,016 (-)NCBICelera
Cytogenetic MapXq24NCBI
HuRefX109,011,091 - 109,054,565 (-)NCBIHuRef
CHM1_1X119,471,636 - 119,514,850 (-)NCBICHM1_1
T2T-CHM13v2.0X118,801,613 - 118,844,815 (-)NCBIT2T-CHM13v2.0
Lamp2
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39X37,488,524 - 37,545,337 (-)NCBIGRCm39GRCm39mm39
GRCm39 EnsemblX37,490,234 - 37,545,331 (-)EnsemblGRCm39 Ensembl
GRCm38X38,399,647 - 38,456,460 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 EnsemblX38,401,357 - 38,456,454 (-)EnsemblGRCm38mm10GRCm38
MGSCv37X35,758,241 - 35,809,632 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36X34,649,691 - 34,701,082 (-)NCBIMGSCv36mm8
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 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 EnsemblX117,057,606 - 117,260,522 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_UtxX119,276,896 - 119,320,477 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0X122,845,901 - 122,889,485 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0X120,391,759 - 120,435,367 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0X124,722,628 - 124,766,079 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 EnsemblX124,722,628 - 124,766,044 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X124,809,053 - 124,852,509 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4X6,908,285 - 6,951,772 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
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
NHGRI_mPanPan1X119,978,980 - 120,022,420 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0X109,700,185 - 109,743,579 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1X119,886,982 - 119,929,896 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 EnsemblX119,886,982 - 119,929,896 (-)Ensemblpanpan1.1panPan2
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 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0X94,152,123 - 94,191,053 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 EnsemblX94,151,835 - 94,191,301 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1X91,601,151 - 91,640,080 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0X93,364,000 - 93,402,925 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0X93,138,811 - 93,177,755 (-)NCBIUU_Cfam_GSD_1.0
Lamp2
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2X91,364,734 - 91,431,269 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364799,584,221 - 9,610,420 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049364799,584,221 - 9,622,330 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LAMP2
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 EnsemblX98,556,710 - 98,623,940 (-)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 - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Vero_WHO_p1.0NW_02366606533,136,533 - 33,179,483 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lamp2
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624931298,328 - 343,915 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624931297,864 - 343,314 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LAMP2
538 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_002294.3(LAMP2):c.-32GTCGCCGCC[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_002294.3(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_002294.3(LAMP2):c.910T>C (p.Tyr304His) single nucleotide variant not provided [RCV001571301] ChrX:120442617 [GRCh38]
ChrX:119576472 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.64+16C>G single nucleotide variant not specified [RCV000602803] ChrX:120469090 [GRCh38]
ChrX:119602945 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.741G>T (p.Lys247Asn) single nucleotide variant Cardiovascular phenotype [RCV000621340] ChrX:120447841 [GRCh38]
ChrX:119581696 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.440T>A (p.Leu147Ter) single nucleotide variant Danon disease [RCV000010655] ChrX:120449086 [GRCh38]
ChrX:119582941 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.864+5G>C single nucleotide variant Danon disease [RCV000010656] ChrX:120446300 [GRCh38]
ChrX:119580155 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.974delinsAA (p.Leu325fs) indel Danon disease [RCV000010657] ChrX:120441849 [GRCh38]
ChrX:119575704 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.741+1G>A single nucleotide variant Cardiovascular phenotype [RCV002381247]|Danon disease [RCV000010658] ChrX:120447840 [GRCh38]
ChrX:119581695 [GRCh37]
ChrX:Xq24		 pathogenic|likely pathogenic
NM_002294.3(LAMP2):c.14del (p.Arg5fs) deletion Danon disease [RCV000010659] ChrX:120469156 [GRCh38]
ChrX:119603011 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.883dup (p.Tyr295fs) duplication Danon disease [RCV000010660] ChrX:120442643..120442644 [GRCh38]
ChrX:119576498..119576499 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.36_42del (p.Gly13fs) deletion Danon disease [RCV000010661] ChrX:120469128..120469134 [GRCh38]
ChrX:119602983..119602989 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.520C>T (p.Gln174Ter) single nucleotide variant Danon disease [RCV000010662] ChrX:120449006 [GRCh38]
ChrX:119582861 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.961T>C (p.Trp321Arg) single nucleotide variant Danon disease [RCV000010664] ChrX:120441862 [GRCh38]
ChrX:119575717 [GRCh37]
ChrX:Xq24		 pathogenic|uncertain significance
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_002294.3(LAMP2):c.696T>A (p.Cys232Ter) single nucleotide variant Cardiovascular phenotype [RCV003159800]|Danon disease [RCV000549262] ChrX:120447886 [GRCh38]
ChrX:119581741 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.1213G>A (p.Ala405Thr) 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 Cardiovascular phenotype [RCV002371769]|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 Cardiovascular phenotype [RCV002326744]|Danon disease [RCV000230647]|Hypertrophic cardiomyopathy [RCV003125866]|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 provided [RCV001618227]|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 provided [RCV001725947]|not specified [RCV000037404] ChrX:120469173 [GRCh38]
ChrX:119603028 [GRCh37]
ChrX:Xq24		 benign|likely 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 Cardiovascular phenotype [RCV002399374]|Danon disease [RCV001521516]|not specified [RCV000037406] ChrX:120456676 [GRCh38]
ChrX:119590531 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.183T>A (p.Tyr61Ter) single nucleotide variant Danon disease [RCV001387423]|Hypertrophic cardiomyopathy [RCV000037407] ChrX:120456651 [GRCh38]
ChrX:119590506 [GRCh37]
ChrX:Xq24		 pathogenic|likely pathogenic
NM_002294.3(LAMP2):c.183T>G (p.Tyr61Ter) single nucleotide variant Danon disease [RCV002513477]|Hypertrophic cardiomyopathy [RCV000037408] ChrX:120456651 [GRCh38]
ChrX:119590506 [GRCh37]
ChrX:Xq24		 pathogenic|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_002294.3(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 Danon disease [RCV001518789]|not specified [RCV000037413] ChrX:120455455 [GRCh38]
ChrX:119589310 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.333T>C (p.Ile111=) single nucleotide variant Danon disease [RCV001504066]|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 provided [RCV001705674]|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 Cardiovascular phenotype [RCV003343612]|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 Cardiovascular phenotype [RCV002336129]|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 Cardiovascular phenotype [RCV002336130]|Danon disease [RCV000638586]|not provided [RCV001697132]|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 Cardiomyopathy [RCV001798113]|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 provided [RCV001711121]|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 provided [RCV001705675]|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 provided [RCV002222366]|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_002294.3(LAMP2):c.864+3_864+6del deletion Cardiovascular phenotype [RCV002371830]|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		 likely pathogenic|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_013995.2(LAMP2):c.217dup (p.Thr73fs) duplication Hypertrophic cardiomyopathy [RCV000037411] ChrX:120455536..120455537 [GRCh38]
ChrX:119589391..119589392 [GRCh37]
ChrX:Xq24		 likely pathogenic
NM_002294.3(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 Cardiovascular phenotype [RCV002426685]|Danon disease [RCV000638585]|not specified [RCV000155797] ChrX:120439280 [GRCh38]
ChrX:119573135 [GRCh37]
ChrX:Xq24		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002294.3(LAMP2):c.-33C>T single nucleotide variant Danon disease [RCV001168937]|not specified [RCV000126567] ChrX:120469202 [GRCh38]
ChrX:119603057 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(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 Cardiomyopathy [RCV001798424]|not specified [RCV000126569] ChrX:120469179 [GRCh38]
ChrX:119603034 [GRCh37]
ChrX:Xq24		 benign|likely benign|conflicting interpretations of pathogenicity
NM_002294.3(LAMP2):c.184-18A>G single nucleotide variant Danon disease [RCV003104268] ChrX:120455588 [GRCh38]
ChrX:119589443 [GRCh37]
ChrX:Xq24		 uncertain significance
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
NM_002294.3(LAMP2):c.1093+7A>G single nucleotide variant Danon disease [RCV003104319] ChrX:120441723 [GRCh38]
ChrX:119575578 [GRCh37]
ChrX:Xq24		 likely benign
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_002294.3(LAMP2):c.1020del (p.Gly341fs) deletion Primary dilated cardiomyopathy [RCV000155777] ChrX:120441803 [GRCh38]
ChrX:119575658 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(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 Danon disease [RCV001360904]|not specified [RCV000155884] ChrX:120431363 [GRCh38]
ChrX:119565218 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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 Cardiomyopathy [RCV001798520]|Cardiovascular phenotype [RCV002433687]|Danon disease [RCV001857540]|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 Cardiovascular phenotype [RCV003343655]|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 Danon disease [RCV002055977]|not specified [RCV000150914] ChrX:120456782 [GRCh38]
ChrX:119590637 [GRCh37]
ChrX:Xq24		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) single nucleotide variant Cardiovascular phenotype [RCV002326863]|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 Cardiovascular phenotype [RCV002321624]|Danon disease [RCV000816392]|Primary dilated cardiomyopathy [RCV000157283]|not provided [RCV002260992]|not specified [RCV000150916] ChrX:120469138 [GRCh38]
ChrX:119602993 [GRCh37]
ChrX:Xq24		 conflicting interpretations of pathogenicity|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_002294.3(LAMP2):c.128_129dup (p.Ala44fs) duplication Danon disease [RCV000154670] ChrX:120456704..120456705 [GRCh38]
ChrX:119590559..119590560 [GRCh37]
ChrX:Xq24		 likely pathogenic
NM_002294.3(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		 benign|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_002294.3(LAMP2):c.1137A>G (p.Ile379Met) single nucleotide variant Cardiovascular phenotype [RCV002321655]|Danon disease [RCV001410789]|Primary familial hypertrophic cardiomyopathy [RCV000157284] ChrX:120431419 [GRCh38]
ChrX:119565274 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.929-5T>C single nucleotide variant Danon disease [RCV000542265]|Trifascicular block on electrocardiogram [RCV000157285]|not provided [RCV001562935]|not specified [RCV001699047] ChrX:120441899 [GRCh38]
ChrX:119575754 [GRCh37]
ChrX:Xq24		 benign|likely benign|uncertain significance
NM_002294.3(LAMP2):c.65-12A>T single nucleotide variant not specified [RCV000157952] ChrX:120456781 [GRCh38]
ChrX:119590636 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.340G>A (p.Val114Ile) single nucleotide variant Cardiovascular phenotype [RCV002453532]|Danon disease [RCV002515063]|not provided [RCV001532707]|not specified [RCV000157953] ChrX:120455414 [GRCh38]
ChrX:119589269 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.605A>C (p.His202Pro) single nucleotide variant Cardiovascular phenotype [RCV003343666]|Danon disease [RCV002516376]|not specified [RCV000157954] ChrX:120447977 [GRCh38]
ChrX:119581832 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
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_002294.3(LAMP2):c.797G>A (p.Arg266His) single nucleotide variant Cardiovascular phenotype [RCV002415690]|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_002294.3(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_002294.3(LAMP2):c.183+5G>A single nucleotide variant not provided [RCV000157961] ChrX:120456646 [GRCh38]
ChrX:119590501 [GRCh37]
ChrX:Xq24		 likely pathogenic
NM_002294.3(LAMP2):c.364G>A (p.Asp122Asn) single nucleotide variant Danon disease [RCV001308958]|not provided [RCV000585174] ChrX:120455390 [GRCh38]
ChrX:119589245 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) single nucleotide variant Cardiomyopathy [RCV001798529]|Cardiovascular phenotype [RCV002354387]|Danon disease [RCV001079583]|not provided [RCV000724029] ChrX:120455369 [GRCh38]
ChrX:119589224 [GRCh37]
ChrX:Xq24		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.715C>G (p.Leu239Val) single nucleotide variant Danon disease [RCV001850201]|not provided [RCV000157967] ChrX:120447867 [GRCh38]
ChrX:119581722 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(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_002294.3(LAMP2):c.864+1G>A single nucleotide variant not provided [RCV000157971] ChrX:120446304 [GRCh38]
ChrX:119580159 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.864+2T>C single nucleotide variant not provided [RCV000157973] ChrX:120446303 [GRCh38]
ChrX:119580158 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.887T>C (p.Leu296Pro) single nucleotide variant Danon disease [RCV001850202]|not provided [RCV000157974] ChrX:120442640 [GRCh38]
ChrX:119576495 [GRCh37]
ChrX:Xq24		 likely pathogenic|uncertain significance
NM_002294.3(LAMP2):c.1040C>G (p.Thr347Ser) single nucleotide variant Cardiovascular phenotype [RCV002390375]|not provided [RCV000767120]|not specified [RCV000157975] ChrX:120441783 [GRCh38]
ChrX:119575638 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.1093+2478A>G single nucleotide variant Danon disease [RCV002272146]|not provided [RCV000466553] ChrX:120439252 [GRCh38]
ChrX:119573107 [GRCh37]
ChrX:Xq24		 benign|likely benign|uncertain significance
NM_002294.3(LAMP2):c.1093+2532G>A 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 provided [RCV001704139]|not specified [RCV000157978] ChrX:120431414 [GRCh38]
ChrX:119565269 [GRCh37]
ChrX:Xq24		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.8G>A (p.Cys3Tyr) single nucleotide variant not provided [RCV000157979] ChrX:120469162 [GRCh38]
ChrX:119603017 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.584_588dup (p.Val197fs) duplication Danon disease [RCV000157984] ChrX:120447993..120447994 [GRCh38]
ChrX:119581848..119581849 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.651dup (p.Pro218fs) duplication not provided [RCV000157985] ChrX:120447930..120447931 [GRCh38]
ChrX:119581785..119581786 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.1114GAC[1] (p.Asp373del) microsatellite Danon disease [RCV001401384]|not provided [RCV000157987] ChrX:120431437..120431439 [GRCh38]
ChrX:119565292..119565294 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.-26_-15dup duplication Danon disease [RCV000157988] ChrX:120469183..120469184 [GRCh38]
ChrX:119603038..119603039 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.320C>G (p.Ser107Cys) single nucleotide variant Cardiovascular phenotype [RCV000621428]|Danon disease [RCV001305361]|not provided [RCV000157990] ChrX:120455434 [GRCh38]
ChrX:119589289 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.1140G>A (p.Ala380=) single nucleotide variant Cardiovascular phenotype [RCV002456099]|Danon disease [RCV000546272] ChrX:120431416 [GRCh38]
ChrX:119565271 [GRCh37]
ChrX:Xq24		 likely benign|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_002294.3(LAMP2):c.1135A>G (p.Ile379Val) 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 provided [RCV001658013]|not specified [RCV000220890] ChrX:120455478 [GRCh38]
ChrX:119589333 [GRCh37]
ChrX:Xq24		 benign|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_002294.3(LAMP2):c.1201A>G (p.Lys401Glu) single nucleotide variant not specified [RCV000223895] ChrX:120431355 [GRCh38]
ChrX:119565210 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.23C>T (p.Pro8Leu) single nucleotide variant Cardiovascular phenotype [RCV002429107]|Danon disease [RCV000234637]|not provided [RCV000786341] ChrX:120469147 [GRCh38]
ChrX:119603002 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.504C>T (p.Tyr168=) single nucleotide variant Danon disease [RCV000228206]|not provided [RCV001722230] 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_002294.3(LAMP2):c.300G>T (p.Ala100=) single nucleotide variant Cardiovascular phenotype [RCV000621341]|Danon disease [RCV002531862] 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_002294.3(LAMP2):c.1091C>T (p.Thr364Ile) single nucleotide variant Cardiovascular phenotype [RCV000243756]|Danon disease [RCV000601467] ChrX:120441732 [GRCh38]
ChrX:119575587 [GRCh37]
ChrX:Xq24		 likely benign|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_002294.3(LAMP2):c.183T>C (p.Tyr61=) single nucleotide variant Cardiovascular phenotype [RCV000250402]|Danon disease [RCV001859470]|not provided [RCV001610767] ChrX:120456651 [GRCh38]
ChrX:119590506 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.300G>C (p.Ala100=) single nucleotide variant Cardiovascular phenotype [RCV000252818]|Danon disease [RCV002518729] ChrX:120455454 [GRCh38]
ChrX:119589309 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(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_002294.3(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_002294.3(LAMP2):c.*3687T>C single nucleotide variant Danon disease [RCV000358232]|Hypertrophic cardiomyopathy [RCV000266695] ChrX:120427636 [GRCh38]
ChrX:119561491 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*4963del deletion Danon disease [RCV000283839]|Hypertrophic cardiomyopathy [RCV000321447] ChrX:120426360 [GRCh38]
ChrX:119560215 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*2162G>A single nucleotide variant Danon disease [RCV000303742]|Hypertrophic cardiomyopathy [RCV000358509]|not provided [RCV002248633] ChrX:120429161 [GRCh38]
ChrX:119563016 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*1589A>G single nucleotide variant Danon disease [RCV000341559]|Hypertrophic cardiomyopathy [RCV000286681]|not provided [RCV001613246] ChrX:120429734 [GRCh38]
ChrX:119563589 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*3347GTTA[1] microsatellite Danon disease [RCV000292702]|Hypertrophic cardiomyopathy [RCV000384699]|not provided [RCV001785607] ChrX:120427969..120427972 [GRCh38]
ChrX:119561824..119561827 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.*2395A>G single nucleotide variant Danon disease [RCV000332910]|Hypertrophic cardiomyopathy [RCV000275242]|not provided [RCV001643121] ChrX:120428928 [GRCh38]
ChrX:119562783 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*3689T>C single nucleotide variant Danon disease [RCV000319729]|Hypertrophic cardiomyopathy [RCV000262187] ChrX:120427634 [GRCh38]
ChrX:119561489 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*4562A>G single nucleotide variant Danon disease [RCV000297650]|Hypertrophic cardiomyopathy [RCV000354659] ChrX:120426761 [GRCh38]
ChrX:119560616 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*33A>G single nucleotide variant Danon disease [RCV000268609]|Hypertrophic cardiomyopathy [RCV000363233]|not provided [RCV001683458] ChrX:120431290 [GRCh38]
ChrX:119565145 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*721A>C single nucleotide variant Danon disease [RCV000324590]|Hypertrophic cardiomyopathy [RCV000270200] ChrX:120430602 [GRCh38]
ChrX:119564457 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*2524T>C single nucleotide variant Danon disease [RCV000364055]|Hypertrophic cardiomyopathy [RCV000271587]|not provided [RCV001712353] ChrX:120428799 [GRCh38]
ChrX:119562654 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*1071G>T single nucleotide variant Danon disease [RCV000273707]|Hypertrophic cardiomyopathy [RCV000368358] ChrX:120430252 [GRCh38]
ChrX:119564107 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*1672C>T single nucleotide variant Danon disease [RCV000275332]|Hypertrophic cardiomyopathy [RCV000330194] ChrX:120429651 [GRCh38]
ChrX:119563506 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*297A>C single nucleotide variant Danon disease [RCV000366688]|Hypertrophic cardiomyopathy [RCV000311869]|not provided [RCV001672738] ChrX:120431026 [GRCh38]
ChrX:119564881 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*4671C>T single nucleotide variant Danon disease [RCV000406752]|Hypertrophic cardiomyopathy [RCV000312905] ChrX:120426652 [GRCh38]
ChrX:119560507 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*1096T>C single nucleotide variant Danon disease [RCV000313717]|Hypertrophic cardiomyopathy [RCV000393074] ChrX:120430227 [GRCh38]
ChrX:119564082 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*5172A>G single nucleotide variant Danon disease [RCV000334021]|Hypertrophic cardiomyopathy [RCV000276642] ChrX:120426151 [GRCh38]
ChrX:119560006 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*2261A>G single nucleotide variant Danon disease [RCV000389760]|Hypertrophic cardiomyopathy [RCV000278927] ChrX:120429062 [GRCh38]
ChrX:119562917 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*5038A>G single nucleotide variant Danon disease [RCV000319063]|Hypertrophic cardiomyopathy [RCV000375907] ChrX:120426285 [GRCh38]
ChrX:119560140 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*4579A>G single nucleotide variant Danon disease [RCV000369947]|Hypertrophic cardiomyopathy [RCV000404849] ChrX:120426744 [GRCh38]
ChrX:119560599 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*3249T>C single nucleotide variant Danon disease [RCV000349932]|Hypertrophic cardiomyopathy [RCV000399713]|not provided [RCV001778955] ChrX:120428074 [GRCh38]
ChrX:119561929 [GRCh37]
ChrX:Xq24		 benign|likely benign|uncertain significance
NM_002294.3(LAMP2):c.*586A>G single nucleotide variant Danon disease [RCV000281192]|Hypertrophic cardiomyopathy [RCV000336202] ChrX:120430737 [GRCh38]
ChrX:119564592 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*2183T>C single nucleotide variant Danon disease [RCV000282629]|Hypertrophic cardiomyopathy [RCV000340070] ChrX:120429140 [GRCh38]
ChrX:119562995 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*653A>G single nucleotide variant Danon disease [RCV000375482]|Hypertrophic cardiomyopathy [RCV000321104] ChrX:120430670 [GRCh38]
ChrX:119564525 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*853G>A single nucleotide variant Danon disease [RCV000328798]|Hypertrophic cardiomyopathy [RCV000364717]|not provided [RCV003326422] ChrX:120430470 [GRCh38]
ChrX:119564325 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.*2460A>G single nucleotide variant Danon disease [RCV000385952]|Hypertrophic cardiomyopathy [RCV000329055]|not provided [RCV001643120] ChrX:120428863 [GRCh38]
ChrX:119562718 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*692G>A single nucleotide variant Danon disease [RCV000284740]|Hypertrophic cardiomyopathy [RCV000379098] ChrX:120430631 [GRCh38]
ChrX:119564486 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*3677C>A single nucleotide variant Danon disease [RCV000381034]|Hypertrophic cardiomyopathy [RCV000324163] ChrX:120427646 [GRCh38]
ChrX:119561501 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.*205C>T single nucleotide variant Danon disease [RCV000408349]|Hypertrophic cardiomyopathy [RCV000308521]|not provided [RCV001662358] ChrX:120431118 [GRCh38]
ChrX:119564973 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*4961A>G single nucleotide variant Danon disease [RCV000286347]|Hypertrophic cardiomyopathy [RCV000378365] ChrX:120426362 [GRCh38]
ChrX:119560217 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*3459GTT[3] microsatellite Danon disease [RCV000288949]|Hypertrophic cardiomyopathy [RCV000327789]|not provided [RCV001785606] ChrX:120427853..120427855 [GRCh38]
ChrX:119561708..119561710 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.*1632A>G single nucleotide variant Danon disease [RCV000384770]|Hypertrophic cardiomyopathy [RCV000290570] ChrX:120429691 [GRCh38]
ChrX:119563546 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*4763A>T single nucleotide variant Danon disease [RCV000347996]|Hypertrophic cardiomyopathy [RCV000290759] ChrX:120426560 [GRCh38]
ChrX:119560415 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*1701dup duplication Danon disease [RCV000333870]|Hypertrophic cardiomyopathy [RCV000388485] ChrX:120429621..120429622 [GRCh38]
ChrX:119563476..119563477 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) single nucleotide variant Danon disease [RCV000400396]|Hypertrophic cardiomyopathy [RCV000291818]|not provided [RCV001706617]|not specified [RCV000419025] ChrX:120456677 [GRCh38]
ChrX:119590532 [GRCh37]
ChrX:Xq24		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.*2005C>G single nucleotide variant Danon disease [RCV000259973]|Hypertrophic cardiomyopathy [RCV000354959] ChrX:120429318 [GRCh38]
ChrX:119563173 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*3248G>A single nucleotide variant Danon disease [RCV000334339]|Hypertrophic cardiomyopathy [RCV000295700]|not provided [RCV001712170] ChrX:120428075 [GRCh38]
ChrX:119561930 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*486A>G single nucleotide variant Danon disease [RCV000296632]|Hypertrophic cardiomyopathy [RCV000398772]|not provided [RCV001613248] ChrX:120430837 [GRCh38]
ChrX:119564692 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*2195T>C single nucleotide variant Danon disease [RCV000374811]|Hypertrophic cardiomyopathy [RCV000336362]|not provided [RCV001637009] ChrX:120429128 [GRCh38]
ChrX:119562983 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*5048A>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_002294.3(LAMP2):c.*1191A>T single nucleotide variant Danon disease [RCV000352913]|Hypertrophic cardiomyopathy [RCV000298578] ChrX:120430132 [GRCh38]
ChrX:119563987 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*2148AT[9] microsatellite Danon disease [RCV000392873]|Hypertrophic cardiomyopathy [RCV000343608]|not provided [RCV001764341] ChrX:120429161..120429162 [GRCh38]
ChrX:119563016..119563017 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*4858A>G single nucleotide variant Danon disease [RCV000401846]|Hypertrophic cardiomyopathy [RCV000343697] ChrX:120426465 [GRCh38]
ChrX:119560320 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*1617C>T single nucleotide variant Danon disease [RCV000381093]|Hypertrophic cardiomyopathy [RCV000345490] ChrX:120429706 [GRCh38]
ChrX:119563561 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*1314T>C single nucleotide variant Danon disease [RCV000338214]|Hypertrophic cardiomyopathy [RCV000393071]|not provided [RCV001613247] ChrX:120430009 [GRCh38]
ChrX:119563864 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.*2148A>G single nucleotide variant Danon disease [RCV000300077]|Hypertrophic cardiomyopathy [RCV000263717] ChrX:120429175 [GRCh38]
ChrX:119563030 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*3031dup duplication Danon disease [RCV000299603]|Hypertrophic cardiomyopathy [RCV000408445]|not provided [RCV001672737] ChrX:120428291..120428292 [GRCh38]
ChrX:119562146..119562147 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(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_002294.3(LAMP2):c.-103G>C single nucleotide variant Danon disease [RCV000301949]|Hypertrophic cardiomyopathy [RCV000391522] ChrX:120469272 [GRCh38]
ChrX:119603127 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*1356C>G single nucleotide variant Danon disease [RCV000302007]|Hypertrophic cardiomyopathy [RCV000401119] ChrX:120429967 [GRCh38]
ChrX:119563822 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*2736T>A single nucleotide variant Danon disease [RCV000303042]|Hypertrophic cardiomyopathy [RCV000360620] ChrX:120428587 [GRCh38]
ChrX:119562442 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*477T>C single nucleotide variant Danon disease [RCV000351559]|Hypertrophic cardiomyopathy [RCV000408388] ChrX:120430846 [GRCh38]
ChrX:119564701 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.*2538A>C single nucleotide variant Danon disease [RCV000268217]|Hypertrophic cardiomyopathy [RCV000307083] ChrX:120428785 [GRCh38]
ChrX:119562640 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.*2148AT[8] microsatellite Danon disease [RCV000305072]|Hypertrophic cardiomyopathy [RCV000392846] ChrX:120429161..120429162 [GRCh38]
ChrX:119563016..119563017 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(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_002294.3(LAMP2):c.-38G>C single nucleotide variant not specified [RCV000601267] ChrX:120469207 [GRCh38]
ChrX:119603062 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.183dup (p.Lys62Ter) duplication Danon disease [RCV003314467] ChrX:120456650..120456651 [GRCh38]
ChrX:119590505..119590506 [GRCh37]
ChrX:Xq24		 likely pathogenic
NC_000023.11:g.(?_120441710)_(120449148_?)del deletion Danon disease [RCV000638591] ChrX:120441710..120449148 [GRCh38]
ChrX:119575565..119583003 [GRCh37]
ChrX:Xq24		 pathogenic|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_002294.3(LAMP2):c.718C>T (p.Gln240Ter) single nucleotide variant Danon disease [RCV001783080]|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_002294.3(LAMP2):c.697C>G (p.Leu233Val) single nucleotide variant Danon disease [RCV000638581] ChrX:120447885 [GRCh38]
ChrX:119581740 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.1093+2485T>C single nucleotide variant Danon disease [RCV000638583] ChrX:120439245 [GRCh38]
ChrX:119573100 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.1075C>T (p.Gln359Ter) single nucleotide variant Cardiovascular phenotype [RCV002418235]|not provided [RCV000414477] ChrX:120441748 [GRCh38]
ChrX:119575603 [GRCh37]
ChrX:Xq24		 pathogenic|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_002294.3(LAMP2):c.1000G>C (p.Glu334Gln) single nucleotide variant Cardiovascular phenotype [RCV002358405]|Danon disease [RCV000801420]|not provided [RCV000522587] ChrX:120441823 [GRCh38]
ChrX:119575678 [GRCh37]
ChrX:Xq24		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(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_002294.3(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_002294.3(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_002294.3(LAMP2):c.1093+17C>T single nucleotide variant not specified [RCV000418519] ChrX:120441713 [GRCh38]
ChrX:119575568 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.150C>T (p.Phe50=) single nucleotide variant Cardiovascular phenotype [RCV002392991]|Danon disease [RCV000921795]|not specified [RCV000421825] ChrX:120456684 [GRCh38]
ChrX:119590539 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.1191T>C (p.Phe397=) single nucleotide variant Cardiovascular phenotype [RCV002348175]|Danon disease [RCV000638589]|not specified [RCV000428950] ChrX:120431365 [GRCh38]
ChrX:119565220 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.204C>G (p.Asp68Glu) single nucleotide variant Cardiovascular phenotype [RCV002418258]|Danon disease [RCV000638580]|not specified [RCV000429123] ChrX:120455550 [GRCh38]
ChrX:119589405 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.65-20A>T single nucleotide variant Danon disease [RCV002481340]|not provided [RCV001696785] ChrX:120456789 [GRCh38]
ChrX:119590644 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.138G>A (p.Trp46Ter) single nucleotide variant Danon disease [RCV000679872] ChrX:120456696 [GRCh38]
ChrX:119590551 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.74G>A (p.Arg25Gln) single nucleotide variant Cardiomyopathy [RCV000770585]|Cardiovascular phenotype [RCV002313043]|Danon disease [RCV000864906]|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_002294.3(LAMP2):c.1093+9C>G single nucleotide variant Danon disease [RCV002524886]|not specified [RCV000432848] ChrX:120441721 [GRCh38]
ChrX:119575576 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.771T>C (p.Asn257=) single nucleotide variant Cardiovascular phenotype [RCV002402142]|Danon disease [RCV002521594]|not specified [RCV000420008] ChrX:120446398 [GRCh38]
ChrX:119580253 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.865-9T>C single nucleotide variant not specified [RCV000440388] ChrX:120442671 [GRCh38]
ChrX:119576526 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(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_002294.3(LAMP2):c.778C>T (p.His260Tyr) single nucleotide variant Cardiovascular phenotype [RCV002411475]|Danon disease [RCV000462750] ChrX:120446391 [GRCh38]
ChrX:119580246 [GRCh37]
ChrX:Xq24		 conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.865-12dup duplication Danon disease [RCV002063681] ChrX:120442669..120442670 [GRCh38]
ChrX:119576524..119576525 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.1093+2544A>G single nucleotide variant Danon disease [RCV000470496]|not provided [RCV001562389] ChrX:120439186 [GRCh38]
ChrX:119573041 [GRCh37]
ChrX:Xq24		 conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.865-8del deletion Danon disease [RCV000467050]|not provided [RCV001653850]|not specified [RCV001700191] ChrX:120442670 [GRCh38]
ChrX:119576525 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.546_548delinsTA (p.Ser183fs) indel Danon disease [RCV000470635] ChrX:120448978..120448980 [GRCh38]
ChrX:119582833..119582835 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.253G>A (p.Gly85Ser) single nucleotide variant Cardiovascular phenotype [RCV002431391]|Danon disease [RCV002526517]|not specified [RCV000480236] ChrX:120455501 [GRCh38]
ChrX:119589356 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.659dup (p.Gly221fs) duplication Danon disease [RCV001382578]|not provided [RCV000482621] ChrX:120447922..120447923 [GRCh38]
ChrX:119581777..119581778 [GRCh37]
ChrX:Xq24		 pathogenic|likely pathogenic
NM_002294.3(LAMP2):c.973dup (p.Leu325fs) duplication Danon disease [RCV000471724] ChrX:120441849..120441850 [GRCh38]
ChrX:119575704..119575705 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.1013C>G (p.Ser338Ter) single nucleotide variant Danon disease [RCV000456892] ChrX:120441810 [GRCh38]
ChrX:119575665 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.264A>T (p.Ile88=) single nucleotide variant Cardiovascular phenotype [RCV002455880]|Danon disease [RCV001475438] ChrX:120455490 [GRCh38]
ChrX:119589345 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.184-1G>T single nucleotide variant not provided [RCV000478574] ChrX:120455571 [GRCh38]
ChrX:119589426 [GRCh37]
ChrX:Xq24		 likely pathogenic
NM_002294.3(LAMP2):c.519A>G (p.Val173=) single nucleotide variant Cardiomyopathy [RCV000769550]|Cardiovascular phenotype [RCV002341099]|Danon disease [RCV000458046]|not provided [RCV003326438] ChrX:120449007 [GRCh38]
ChrX:119582862 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.962G>A (p.Trp321Ter) single nucleotide variant Danon disease [RCV000465984] ChrX:120441861 [GRCh38]
ChrX:119575716 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.788del (p.Gly263fs) deletion Danon disease [RCV000477190] ChrX:120446381 [GRCh38]
ChrX:119580236 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.929-2A>G single nucleotide variant not provided [RCV000523141] ChrX:120441896 [GRCh38]
ChrX:119575751 [GRCh37]
ChrX:Xq24		 pathogenic|likely 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_002294.3(LAMP2):c.769A>G (p.Asn257Asp) single nucleotide variant Cardiovascular phenotype [RCV002404289]|Danon disease [RCV001370893]|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|uncertain significance
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1 copy number loss See cases [RCV000511572] ChrX:112474054..155233731 [GRCh37]
ChrX:Xq23-28		 pathogenic
NM_002294.3(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_002294.3(LAMP2):c.515T>C (p.Leu172Pro) single nucleotide variant Cardiovascular phenotype [RCV002341168]|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_002294.3(LAMP2):c.45T>G (p.Val15=) single nucleotide variant Cardiovascular phenotype [RCV003297464] ChrX:120469125 [GRCh38]
ChrX:119602980 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.877C>A (p.Arg293=) single nucleotide variant Cardiovascular phenotype [RCV000617609]|Danon disease [RCV001513288]|not specified [RCV000608711] ChrX:120442650 [GRCh38]
ChrX:119576505 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.156_157delinsTT (p.Arg53Cys) indel Danon disease [RCV000638587] ChrX:120456677..120456678 [GRCh38]
ChrX:119590532..119590533 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.773C>T (p.Thr258Ile) single nucleotide variant Danon disease [RCV000638579] ChrX:120446396 [GRCh38]
ChrX:119580251 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.461A>G (p.Asn154Ser) single nucleotide variant Cardiovascular phenotype [RCV002317342]|Danon disease [RCV001495665]|not provided [RCV000594056] ChrX:120449065 [GRCh38]
ChrX:119582920 [GRCh37]
ChrX:Xq24		 likely benign|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_002294.3(LAMP2):c.972C>G (p.Pro324=) single nucleotide variant Cardiovascular phenotype [RCV002377264]|Danon disease [RCV001481317]|not specified [RCV000612219] ChrX:120441851 [GRCh38]
ChrX:119575706 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.742-7_742-5del deletion Cardiovascular phenotype [RCV003162730]|Danon disease [RCV000866616]|not provided [RCV000609854] ChrX:120446432..120446434 [GRCh38]
ChrX:119580287..119580289 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.1139C>T (p.Ala380Val) single nucleotide variant Danon disease [RCV001860261]|not provided [RCV001696967] ChrX:120431417 [GRCh38]
ChrX:119565272 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.864+5G>T single nucleotide variant Cardiovascular phenotype [RCV000617767]|Danon disease [RCV001860411] ChrX:120446300 [GRCh38]
ChrX:119580155 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.64+20C>G single nucleotide variant Danon disease [RCV002531724]|not specified [RCV000604911] ChrX:120469086 [GRCh38]
ChrX:119602941 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.1094-4C>T single nucleotide variant Danon disease [RCV002062930]|not specified [RCV000599684] ChrX:120431466 [GRCh38]
ChrX:119565321 [GRCh37]
ChrX:Xq24		 benign|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_002294.3(LAMP2):c.601A>G (p.Ile201Val) single nucleotide variant Cardiovascular phenotype [RCV000621662]|Danon disease [RCV001168185]|not provided [RCV002508239] 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_002294.3(LAMP2):c.64+4delinsGT indel Cardiovascular phenotype [RCV000621240] ChrX:120469102 [GRCh38]
ChrX:119602957 [GRCh37]
ChrX:Xq24		 pathogenic|uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.-23_-16del deletion not provided [RCV000675452] ChrX:120469185..120469192 [GRCh38]
ChrX:119603040..119603047 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.980G>T (p.Ser327Ile) single nucleotide variant Danon disease [RCV000686641] ChrX:120441843 [GRCh38]
ChrX:119575698 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(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_002294.3(LAMP2):c.263T>C (p.Ile88Thr) single nucleotide variant Danon disease [RCV000699076] ChrX:120455491 [GRCh38]
ChrX:119589346 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.137G>A (p.Trp46Ter) single nucleotide variant Danon disease [RCV000700468] ChrX:120456697 [GRCh38]
ChrX:119590552 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.581C>A (p.Thr194Asn) single nucleotide variant Danon disease [RCV000688944] ChrX:120448001 [GRCh38]
ChrX:119581856 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.1126C>A (p.Leu376Ile) single nucleotide variant Danon disease [RCV000685474] ChrX:120431430 [GRCh38]
ChrX:119565285 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.1093+2532G>T single nucleotide variant Danon disease [RCV000692264] ChrX:120439198 [GRCh38]
ChrX:119573053 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.815T>G (p.Leu272Arg) single nucleotide variant Danon disease [RCV000692414] ChrX:120446354 [GRCh38]
ChrX:119580209 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.843T>G (p.Tyr281Ter) single nucleotide variant Danon disease [RCV000697607] ChrX:120446326 [GRCh38]
ChrX:119580181 [GRCh37]
ChrX:Xq24		 pathogenic
NM_002294.3(LAMP2):c.443A>G (p.Asn148Ser) single nucleotide variant Cardiovascular phenotype [RCV002332480]|Danon disease [RCV000701278]|not provided [RCV001561766] ChrX:120449083 [GRCh38]
ChrX:119582938 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.576C>T (p.Asp192=) single nucleotide variant Danon disease [RCV002533038]|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 Autism [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 Danon disease [RCV001506308] ChrX:120456643 [GRCh38]
ChrX:119590498 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.*2771A>G single nucleotide variant not provided [RCV001699899] ChrX:120428552 [GRCh38]
ChrX:119562407 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.1094-140A>G single nucleotide variant not provided [RCV001547528] ChrX:120431602 [GRCh38]
ChrX:119565457 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.-39C>T single nucleotide variant not provided [RCV001679527] ChrX:120469208 [GRCh38]
ChrX:119603063 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.429C>T (p.Ile143=) single nucleotide variant Danon disease [RCV001438177] ChrX:120449097 [GRCh38]
ChrX:119582952 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.354C>T (p.Tyr118=) single nucleotide variant Danon disease [RCV001473768] ChrX:120455400 [GRCh38]
ChrX:119589255 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.750A>C (p.Ser250=) single nucleotide variant Cardiovascular phenotype [RCV002390935]|Danon disease [RCV001518899] ChrX:120446419 [GRCh38]
ChrX:119580274 [GRCh37]
ChrX:Xq24		 benign|likely 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]|not provided [RCV001759724] 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_002294.3(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 Danon disease [RCV001418923] ChrX:120439206 [GRCh38]
ChrX:119573061 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.42C>G (p.Leu14=) single nucleotide variant Cardiovascular phenotype [RCV002327202]|Danon disease [RCV001468517] ChrX:120469128 [GRCh38]
ChrX:119602983 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.300G>A (p.Ala100=) single nucleotide variant Cardiovascular phenotype [RCV002434159]|Danon disease [RCV001514716] ChrX:120455454 [GRCh38]
ChrX:119589309 [GRCh37]
ChrX:Xq24		 benign|likely benign
NM_002294.3(LAMP2):c.969C>A (p.Ala323=) single nucleotide variant Danon disease [RCV001464536] ChrX:120441854 [GRCh38]
ChrX:119575709 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.960C>T (p.Tyr320=) single nucleotide variant Cardiovascular phenotype [RCV003380779]|Danon disease [RCV000929103] ChrX:120441863 [GRCh38]
ChrX:119575718 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.723G>A (p.Leu241=) single nucleotide variant Cardiomyopathy [RCV000769549] ChrX:120447859 [GRCh38]
ChrX:119581714 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.-7C>T single nucleotide variant not provided [RCV001536931]|not specified [RCV000780373] ChrX:120469176 [GRCh38]
ChrX:119603031 [GRCh37]
ChrX:Xq24		 benign|uncertain significance
NM_002294.3(LAMP2):c.959A>G (p.Tyr320Cys) single nucleotide variant Cardiomyopathy [RCV000769547]|Cardiovascular phenotype [RCV002386329]|Danon disease [RCV001459638] ChrX:120441864 [GRCh38]
ChrX:119575719 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.770A>G (p.Asn257Ser) single nucleotide variant Cardiomyopathy [RCV000769548] ChrX:120446399 [GRCh38]
ChrX:119580254 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.928+245A>G single nucleotide variant not provided [RCV000831887] ChrX:120442354 [GRCh38]
ChrX:119576209 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) single nucleotide variant Cardiovascular phenotype [RCV003166323]|Danon disease [RCV000813478] ChrX:120447942 [GRCh38]
ChrX:119581797 [GRCh37]
ChrX:Xq24		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_002294.3(LAMP2):c.928+4A>G single nucleotide variant Danon disease [RCV000803153] ChrX:120442595 [GRCh38]
ChrX:119576450 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.929-126G>A single nucleotide variant not provided [RCV000834672] ChrX:120442020 [GRCh38]
ChrX:119575875 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.29C>T (p.Pro10Leu) single nucleotide variant Cardiovascular phenotype [RCV002440711]|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_002294.3(LAMP2):c.1015G>C (p.Val339Leu) single nucleotide variant Cardiovascular phenotype [RCV002336652]|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]|not specified [RCV001824899] ChrX:120441721 [GRCh38]
ChrX:119575576 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.2(LAMP2):c.-421T>G single nucleotide variant not provided [RCV000843770] ChrX:120469590 [GRCh38]
ChrX:119603445 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.30G>A (p.Pro10=) single nucleotide variant Cardiovascular phenotype [RCV002325535]|Danon disease [RCV000800773] ChrX:120469140 [GRCh38]
ChrX:119602995 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.865-221A>T single nucleotide variant not provided [RCV000837163] ChrX:120442883 [GRCh38]
ChrX:119576738 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.865-242C>A single nucleotide variant not provided [RCV000838174] ChrX:120442904 [GRCh38]
ChrX:119576759 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.669T>G (p.Tyr223Ter) single nucleotide variant not provided [RCV000788240] ChrX:120447913 [GRCh38]
ChrX:119581768 [GRCh37]
ChrX:Xq24		 pathogenic|likely pathogenic
NM_002294.3(LAMP2):c.556+13T>A single nucleotide variant Danon disease [RCV002487624]|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_002294.3(LAMP2):c.865-121C>T single nucleotide variant not provided [RCV000834671] ChrX:120442783 [GRCh38]
ChrX:119576638 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.416A>T (p.Glu139Val) single nucleotide variant Danon disease [RCV000813835] ChrX:120449110 [GRCh38]
ChrX:119582965 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.557-128dup 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_002294.3(LAMP2):c.557-251G>T single nucleotide variant not provided [RCV000829142] ChrX:120448276 [GRCh38]
ChrX:119582131 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.-32GTCGCCGCC[3] microsatellite not provided [RCV000829312] ChrX:120469183..120469184 [GRCh38]
ChrX:119603038..119603039 [GRCh37]
ChrX:Xq24		 likely benign
NM_002294.3(LAMP2):c.188C>T (p.Thr63Ile) single nucleotide variant Cardiovascular phenotype [RCV002406740]|Danon disease [RCV000794904] ChrX:120455566 [GRCh38]
ChrX:119589421 [GRCh37]
ChrX:Xq24		 uncertain significance
NM_002294.3(LAMP2):c.398-110T>G single nucleotide variant not provided [RCV000833684] ChrX:120449238 [GRCh38]
ChrX:119583093 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(LAMP2):c.65-314G>A single nucleotide variant not provided [RCV000843773] ChrX:120457083 [GRCh38]
ChrX:119590938 [GRCh37]
ChrX:Xq24		 benign
NM_002294.3(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_002294.3(LAMP2):c.232A>G (p.Ile78Val) single nucleotide variant Danon disease [RCV000808198] ChrX:120455522 [GRCh38]
ChrX:119589377 [GRCh37]
ChrX:Xq24		 likely benign|uncertain significance
NM_002294.3(LAMP2):c.1084T>C (p.Tyr362His) single nucleotide variant not provided [