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Links from MedGen

Items: 1 to 100 of 148

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLG
(V806M)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(G805R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(E743K)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(T707I)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R696G)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(S688F)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(I677T)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R663*)
Single nucleotide variant
(nonsense)
Angioedema, hereditary, 4
+1 more
GLikely pathogenic
PLG
(I652R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(Q650L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(G638S)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R549I)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(G525S)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R523Q)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(P522S)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(S514G)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(A494E)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(A494K)
Indel
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(C481Y)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(S455P)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R445M)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(V444I)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(Q410R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(E369D)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(T359A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R331T)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(R325L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(C316*)
Single nucleotide variant
(nonsense)
Angioedema, hereditary, 4
+1 more
GLikely pathogenic
PLG
(P315L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(P304A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GLikely pathogenic
PLG
(T295I)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(T295N)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(N286S)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(G278A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(D258N)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(D249E)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(N226I)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(G218V)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(E180A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(3 prime UTR variant +1 more)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(S129P)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(Y99F)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(splice donor variant)
Angioedema, hereditary, 4
+1 more
GLikely pathogenic
PLG
(R80K)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(A63S)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(E55del)
Microsatellite
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(I46T)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(G44R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(S35G)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(D23I)
Indel
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(E20A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(L10F)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(V7F)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+1 more
GUncertain significance
PLG
(V462E)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(R656W)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(P225R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(T517I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(A675V)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(Y165H)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(E478D)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(V462A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(E54K)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(R261C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PLG
(T105A)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GConflicting classifications of pathogenicity
PLG
(E180K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(M88I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
PLG
(E145D)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(D156E)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(P221L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(T248I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLG
(E768Q)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(R731H)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
PLG
(V596G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(E478K)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(A507V)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(Q341H)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(V582A)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(R386Q)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(R786C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(G456R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(E191G)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(M482T)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(P250L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(D695E)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(P465L)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(T272A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(D249N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLG
(V6A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(Q29P)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126859861, PLG
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
PLG
Single nucleotide variant
(intron variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
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