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Items: 31

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLG
(V6A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(K38E)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GConflicting classifications of pathogenicity
PLG
(K39Q)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLG
(G106W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(T123I)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(H142Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(P159L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLG
(R172G)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(R239S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(D249N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(E255fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
PLG
(R261H)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PLG
(T272A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(T394A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(P465L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(D472E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PLG
(T500M)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PLG
(A524T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(D553N)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(G583A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(V586A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLG
(P647L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(I666T)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(V676I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
(I682N)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PLG
(D695E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
PLG
(G783S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PLG
(M807T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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