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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROC
(F103S +5 more)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
DPP4
(E191*)
Single nucleotide variant
(nonsense)
Hereditary angioedema with normal C1Inh
Gnot provided
KNG1
Single nucleotide variant
(5 prime UTR variant)
Hereditary angioedema with normal C1Inh
Gnot provided
KNG1
(D141N)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
TLR2
(L194F)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
PLG
(V728E)
Single nucleotide variant
(missense variant)
Angioedema, hereditary, 4
GPathogenic
PLAT
Indel
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
TLR4
(G625E +2 more)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
CPN1
(E407K)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
C1S
(W12R)
Single nucleotide variant
(missense variant +1 more)
Hereditary angioedema with normal C1Inh
Gnot provided
KRT1
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema with normal C1Inh
Gnot provided
SERPINA1
(V357A)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
SERPINA1
(H117Y)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
BDKRB2
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema with normal C1Inh
Gnot provided
LOC106694315, MPO
Single nucleotide variant
(5 prime UTR variant)
Hereditary angioedema with normal C1Inh
Gnot provided
ACE
(D491fs)
Indel
(frameshift variant)
not provided
GPathogenic
ACE
(Q582K)
Single nucleotide variant
(missense variant)
Hereditary angioedema with normal C1Inh
Gnot provided
ELANE
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema with normal C1Inh
Gnot provided
KLK3
(V40fs)
Duplication
(frameshift variant)
Hereditary angioedema with normal C1Inh
Gnot provided
KLK3
Single nucleotide variant
(3 prime UTR variant)
Hereditary angioedema with normal C1Inh
Gnot provided
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