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Items: 59

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LIPA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+4 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LIPA
(D349G +1 more)
Single nucleotide variant
(missense variant)
Wolman disease
+1 more
GUncertain significance
LIPA
(H344Q +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LIPA
(T337A +1 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+1 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(intron variant)
not provided
+3 more
GUncertain significance
LIPA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
LIPA
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LIPA
(S297G +1 more)
Single nucleotide variant
(missense variant)
LIPA-related condition
+3 more
GConflicting classifications of pathogenicity
LIPA
(W296C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+3 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
LIPA
(M274I +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LIPA
(N157fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
LIPA
(E269D +1 more)
Single nucleotide variant
(missense variant)
Wolman disease
+2 more
GUncertain significance
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+2 more
GBenign/Likely benign
LIPA
(I252L +1 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LIPA
(H250P +1 more)
Single nucleotide variant
(missense variant)
Wolman disease
+2 more
GUncertain significance
LIPA
Single nucleotide variant
(synonymous variant)
LIPA-related condition
+3 more
GConflicting classifications of pathogenicity
LIPA
(F228S +1 more)
Single nucleotide variant
(missense variant)
LIPA-related condition
+4 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIPA
(D221G +1 more)
Single nucleotide variant
(missense variant)
Wolman disease
+4 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
Wolman disease
+3 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
LIPA
Single nucleotide variant
(intron variant)
Wolman disease
+1 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(intron variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
LIPA
(A154fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
LIPA
(Y150C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LIPA
Single nucleotide variant
(intron variant)
LIPA-related condition
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
LIPA
(V18fs +1 more)
Microsatellite
(frameshift variant)
not provided
GPathogenic
LIPA
Deletion
(nonsense)
Wolman disease
+2 more
GPathogenic
LIPA
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LIPA
(R127Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LIPA
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LIPA
(M1fs +1 more)
Insertion
(frameshift variant +1 more)
Wolman disease
+2 more
GPathogenic/Likely pathogenic
LIPA
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LIPA
(N98K)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant +1 more)
Cardiovascular phenotype
+2 more
GConflicting classifications of pathogenicity
LIPA
(P78T)
Single nucleotide variant
(missense variant +1 more)
Wolman disease
+1 more
GUncertain significance
LIPA
(K76R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPA
(E56K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPA
Single nucleotide variant
(intron variant)
Wolman disease
+2 more
GBenign
LIPA
Single nucleotide variant
(intron variant)
LIPA-related condition
+2 more
GConflicting classifications of pathogenicity
LIPA
(T16P)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GBenign/Likely benign
LIPA
(W15R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
LIPA
Single nucleotide variant
(synonymous variant +1 more)
Wolman disease
+1 more
GConflicting classifications of pathogenicity
LIPA
(V10I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPA
(R4Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LIPA
(K2N)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
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