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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMP2
(V381A)
Single nucleotide variant
(genic downstream transcript variant +2 more)
Danon disease
+5 more
GConflicting classifications of pathogenicity
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
+2 more
GLikely benign
LAMP2
(Y320C)
Single nucleotide variant
(missense variant)
Danon disease
+2 more
GConflicting classifications of pathogenicity
LAMP2
(N257S)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
LAMP2
(I252S)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GUncertain significance
LAMP2
(G221R)
Single nucleotide variant
(missense variant)
Intellectual disability
+5 more
GConflicting classifications of pathogenicity
LAMP2
(T196S)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
LAMP2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LAMP2
Single nucleotide variant
(intron variant)
Cardiomyopathy
GUncertain significance
LAMP2
(A129T)
Single nucleotide variant
(missense variant)
Danon disease
+4 more
GConflicting classifications of pathogenicity
LAMP2
(P127R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
LAMP2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LAMP2
(A105T)
Single nucleotide variant
(missense variant)
Danon disease
+1 more
GUncertain significance
LAMP2
(G93R)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LAMP2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
LAMP2
(S36*)
Single nucleotide variant
(nonsense)
Cardiomyopathy
GPathogenic
LAMP2
Deletion
(nonsense)
Cardiomyopathy
GLikely pathogenic
LAMP2
(R25Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LAMP2
(R5L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
LAMP2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
LAMP2
Single nucleotide variant
(5 prime UTR variant)
not specified
+1 more
GConflicting classifications of pathogenicity
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