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Items: 8

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LAMP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+5 more
GBenign/Likely benign
LAMP2
(R293*)
Single nucleotide variant
(nonsense)
Danon disease
+2 more
GPathogenic
LAMP2
(I252S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign/Likely benign
LAMP2
(K193fs)
Deletion
(frameshift variant)
not provided
GPathogenic
LAMP2
(T196S)
Single nucleotide variant
(missense variant)
History of neurodevelopmental disorder
+6 more
GConflicting classifications of pathogenicity
LAMP2
(N154S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LAMP2
(A129T)
Single nucleotide variant
(missense variant)
LAMP2-related condition
+4 more
GConflicting classifications of pathogenicity
LAMP2
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+4 more
GBenign/Likely benign
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