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Links from MedGen

Items: 1 to 100 of 543

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(V392A)
Single nucleotide variant
(missense variant +1 more)
Danon disease
GUncertain significance
LAMP2
(P94L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(Y27F)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
(T196A)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GUncertain significance
LAMP2
(C18R)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(V337L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(F284L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Deletion
(intron variant)
Danon disease
GLikely benign
LAMP2
(R152K)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(I345V)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(D128Y)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(T71A)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(T51fs)
Microsatellite
(frameshift variant)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(E30*)
Single nucleotide variant
(nonsense)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GUncertain significance
LAMP2
(L325V)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(T194S)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GUncertain significance
LAMP2
(S155G)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(synonymous variant)
LAMP2-related condition
+1 more
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
(C41*)
Single nucleotide variant
(nonsense)
Danon disease
GPathogenic
LAMP2
(Y74*)
Single nucleotide variant
(nonsense)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(G238A)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Insertion
(intron variant)
Danon disease
GLikely benign
LAMP2
(L42fs)
Deletion
(frameshift variant)
Danon disease
GPathogenic
LAMP2
(C331R)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(V197M)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(I66fs)
Deletion
(frameshift variant)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
(M303L)
Single nucleotide variant
(missense variant)
Danon disease
GLikely benign
LAMP2
Deletion
(splice donor variant)
Danon disease
GLikely pathogenic
LAMP2
(P218fs)
Deletion
(frameshift variant)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(D112N)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(I313L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LAMP2
(P199S)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(K62*)
Duplication
(nonsense)
Danon disease
GLikely pathogenic
LAMP2
(Y362H)
Single nucleotide variant
(missense variant)
Danon disease
+1 more
GUncertain significance
LAMP2
(A105T)
Single nucleotide variant
(missense variant)
Danon disease
+1 more
GUncertain significance
LAMP2
(L150H)
Single nucleotide variant
(missense variant)
Danon disease
+1 more
GConflicting classifications of pathogenicity
LAMP2
(D138G)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Duplication
Danon disease
GUncertain significance
LAMP2
Duplication
Danon disease
GLikely pathogenic
LAMP2
Deletion
Danon disease
GPathogenic
LAMP2
Deletion
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GUncertain significance
LAMP2
(K247E)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(R53L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(T194I)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(S67L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(C368Y)
Single nucleotide variant
(missense variant +1 more)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
(Q344E)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Microsatellite
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
(N229D)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(D322V)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(I252fs)
Duplication
(frameshift variant)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Deletion
(frameshift variant)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
(S115L)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(N253T)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GUncertain significance
LAMP2
(R25*)
Indel
(nonsense)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
(Q240P)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(T71S)
Single nucleotide variant
(missense variant)
Danon disease
GLikely benign
LAMP2
(L29S)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(T120P)
Single nucleotide variant
(missense variant)
Danon disease
GUncertain significance
LAMP2
(A89fs)
Duplication
(frameshift variant)
Danon disease
GPathogenic
LAMP2
(Y43*)
Single nucleotide variant
(nonsense)
Danon disease
GPathogenic
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(intron variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
LAMP2
Single nucleotide variant
(synonymous variant)
Danon disease
GLikely benign
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