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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LRP2
(P4397L)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+2 more
GUncertain significance
LRP2
(P4380fs)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
LRP2
(E3763V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LRP2
(P3568L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LRP2
(S3513Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LRP2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
LRP2
(M3159I)
Single nucleotide variant
(missense variant)
Donnai-Barrow syndrome
+3 more
GConflicting classifications of pathogenicity
LRP2
(N1768S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
LRP2
(H1104R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
LRP2
(T867A)
Single nucleotide variant
(missense variant)
LRP2-related condition
+2 more
GConflicting classifications of pathogenicity
LRP2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
LRP2
(N547D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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