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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F11
(Y52*)
Duplication
(nonsense)
not provided
+1 more
GLikely pathogenic
F11
(P66S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F11
(S99fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
F11
(A109T)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GPathogenic/Likely pathogenic
F11
(E135*)
Single nucleotide variant
(nonsense)
Hereditary factor XI deficiency disease
+2 more
GPathogenic
F11
(C140Y)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F11
(H145R)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
F11
(R162H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
F11
Single nucleotide variant
(intron variant)
not provided
GPathogenic/Likely pathogenic
F11
Single nucleotide variant
(splice donor variant)
not provided
+2 more
GPathogenic/Likely pathogenic
F11
(R268C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
F11
(F301L)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+2 more
GPathogenic
F11
(R326C)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GLikely pathogenic
F11
(P400L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
F11
(A430T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
F11
(R443C)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GConflicting classifications of pathogenicity
F11
(I481fs)
Deletion
(frameshift variant)
not provided
GPathogenic
F11
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
F11, F11-AS1
Single nucleotide variant
(splice acceptor variant)
Hereditary factor XI deficiency disease
+1 more
GLikely pathogenic
F11, F11-AS1
(W519*)
Single nucleotide variant
(nonsense)
Abnormal bleeding
+2 more
GPathogenic/Likely pathogenic
F11, F11-AS1
(E543K)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GUncertain significance
F11, F11-AS1
(G576E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
F11, F11-AS1
(Q623fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
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