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Links from MedGen

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLG
(P465L)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+3 more
GUncertain significance
PLG
(T272A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(D249N)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(V6A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
PLG
(Q29P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PLG, LOC126859861
Single nucleotide variant
(intron variant)
Plasminogen deficiency, type I
+2 more
GBenign
PLG
Single nucleotide variant
(intron variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(P169T)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(S443R)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(G106A)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
(Y283C)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
Single nucleotide variant
(3 prime UTR variant)
Plasminogen deficiency, type I
+2 more
GBenign
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
Single nucleotide variant
(splice acceptor variant)
Plasminogen deficiency, type I
GLikely pathogenic
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
(I666T)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GUncertain significance
PLG
(R172G)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(T123I)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(K39Q)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Angioedema, hereditary, 4
+2 more
GConflicting classifications of pathogenicity
PLG
(A216T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(R89T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PLG
(D156N)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+1 more
GUncertain significance
PLG
(G579R)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+3 more
GUncertain significance
PLG
(S755G)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
GUncertain significance
PLG
(C296G)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
GPathogenic
PLG
(G712R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+3 more
GUncertain significance
PLG
Single nucleotide variant
(synonymous variant)
Plasminogen deficiency, type I
+2 more
GLikely benign
PLG
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
PLG
Single nucleotide variant
(synonymous variant)
Plasminogen deficiency, type I
+2 more
GLikely benign
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GLikely benign
PLG
(S460R)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
+2 more
GBenign
PLG
(R523W)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GBenign/Likely benign
PLG
Single nucleotide variant
(synonymous variant)
Angioedema, hereditary, 4
+2 more
GLikely benign
PLG
Single nucleotide variant
(synonymous variant)
Plasminogen deficiency, type I
+2 more
GBenign
PLG
(R696Q)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GLikely benign
PLG
(I682N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
PLG
(S760G)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
GUncertain significance
PLG
Single nucleotide variant
(intron variant)
Plasminogen deficiency, type I
GUncertain significance
PLG
(P406Q)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
GUncertain significance
PLG
(D553N)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
+2 more
GUncertain significance
PLG
(R490Q)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
PLG
(K38E)
Single nucleotide variant
(missense variant)
Deep venous thrombosis
+2 more
GConflicting classifications of pathogenicity
PLG
Deletion
(splice donor variant)
Plasminogen deficiency, type I
GPathogenic
PLG
(K231del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
PLG
(E479*)
Single nucleotide variant
(nonsense)
Plasminogen deficiency, type I
GPathogenic
LOC126859861, PLG
(W616*)
Single nucleotide variant
(nonsense)
Plasminogen deficiency, type I
GPathogenic
PLG
(R235H)
Single nucleotide variant
(missense variant)
Plasminogen deficiency, type I
GPathogenic
LOC126859861, PLG
(A620T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
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