LAMP2 Chromosome X

Lysosome associated membrane protein 2
169 variants 169 Health Risk

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What This Gene Does
The protein encoded by this gene is a member of a family of membrane glycoproteins. This glycoprotein provides selectins with carbohydrate ligands. It may play a role in tumor cell metastasis. It may also function in the protection, maintenance, and adhesion of the lysosome. Alternative splicing of this gene results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"CD molecules|Lysosome associated membrane proteins"
Locus Type
gene with protein product
Location
Xq24
Ensembl
ENSG00000005893
Associated Conditions (16)
Danon disease
Cardiovascular phenotype
Cardiomyopathy
Hypertrophic cardiomyopathy
Intellectual disability
LAMP2-related disorder
Nonpapillary renal cell carcinoma
Primary dilated cardiomyopathy
Trifascicular block on electrocardiogram
Primary familial hypertrophic cardiomyopathy
Melanoma
Thyroid cancer
nonmedullary
1
Malignant tumor of urinary bladder
Isolated Noncompaction of the Ventricular Myocardium
Key Variants
RS1033442580
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1045629648
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1060504543
Conflicting classifications of pathogenicity
Danon disease, Cardiomyopathy, Cardiovascular phenotype
Health Risk
RS111703410
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1271107737
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1292531971
Conflicting classifications of pathogenicity
Cardiomyopathy, Danon disease, Cardiovascular phenotype
Health Risk
RS1319752625
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1358581771
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS1362738445
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Danon disease, Cardiovascular phenotype
Health Risk
RS1380200946
Conflicting classifications of pathogenicity
Danon disease, Danon disease
Health Risk
RS138374063
Conflicting classifications of pathogenicity
Danon disease, Cardiovascular phenotype, Danon disease
Health Risk
RS138991195
Conflicting classifications of pathogenicity
Cardiovascular phenotype, Hypertrophic cardiomyopathy, Danon disease
Health Risk
All Variants (169)
RSID Category Clinical Significance Conditions
RS1033442580 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1045629648 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1060504543 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiomyopathy, Cardiovascular phenotype
RS111703410 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1271107737 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1292531971 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Danon disease, Cardiovascular phenotype
RS1319752625 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1358581771 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1362738445 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease, Cardiovascular phenotype
RS1380200946 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS138374063 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS138991195 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy, Danon disease
RS139633545 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease, Cardiomyopathy
RS141574558 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS144140265 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS145169006 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Cardiomyopathy
RS1460188868 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Danon disease, Intellectual disability
RS149276836 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiomyopathy, Cardiovascular phenotype
RS1556112678 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS1602532154 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS200297370 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS201209341 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS2058604823 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS2147273254 Health Risk Conflicting classifications of pathogenicity Nonpapillary renal cell carcinoma, Danon disease, Nonpapillary renal cell carcinoma
RS2147279469 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease, Danon disease
RS2147286839 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS3180515 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Danon disease, Cardiovascular phenotype
RS369032377 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS373007615 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS375341409 Health Risk Conflicting classifications of pathogenicity Trifascicular block on electrocardiogram, Danon disease, Cardiovascular phenotype
RS376215728 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS377652722 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease, Cardiovascular phenotype
RS397516735 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS397516736 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Danon disease, Hypertrophic cardiomyopathy
RS727503121 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS727504953 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Danon disease, Cardiovascular phenotype
RS730880126 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Danon disease, Cardiovascular phenotype
RS730880475 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS730880479 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS730880494 Health Risk Conflicting classifications of pathogenicity Danon disease, LAMP2-related disorder, Danon disease
RS730880497 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Danon disease, Cardiovascular phenotype
RS750118236 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Danon disease, Cardiovascular phenotype
RS762218821 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS762305947 Health Risk Conflicting classifications of pathogenicity LAMP2-related disorder, LAMP2-related disorder
RS763861761 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS765371462 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS766491800 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS766962315 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype, Danon disease
RS767652057 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS768369360 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
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