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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F11, F11-AS1
Single nucleotide variant
(splice acceptor variant)
Hereditary factor XI deficiency disease
+1 more
GLikely pathogenic
F11, F11-AS1
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F11, F11-AS1
(D506G)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11, F11-AS1
(V516M)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GConflicting classifications of pathogenicity
F11, F11-AS1
(Y521fs)
Duplication
(frameshift variant)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(W519*)
Single nucleotide variant
(nonsense)
Abnormal bleeding
+2 more
GPathogenic/Likely pathogenic
F11-AS1, F11
(P538L)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GPathogenic/Likely pathogenic
F11, F11-AS1
(T541fs)
Duplication
(frameshift variant)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(E543K)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GUncertain significance
F11, F11-AS1
(I559fs)
Deletion
(frameshift variant)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(E565K)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
F11, F11-AS1
Single nucleotide variant
(splice donor variant)
Hereditary factor XI deficiency disease
+1 more
GPathogenic
F11, F11-AS1
(G573E)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GUncertain significance
F11, F11-AS1
(S575*)
Single nucleotide variant
(nonsense +1 more)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(C581R)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
GUncertain significance
F11, F11-AS1
(T593M)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
+1 more
GPathogenic/Likely pathogenic
F11, F11-AS1
(E597*)
Single nucleotide variant
(nonsense +1 more)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11, F11-AS1
(E597K)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
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