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Items: 20

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
F11
(M1I)
Single nucleotide variant
(missense variant +1 more)
Hereditary factor XI deficiency disease
+1 more
GLikely pathogenic
F11
(Q23*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
F11
Single nucleotide variant
(intron variant)
Hereditary factor XI deficiency disease
GUncertain significance
F11
(Q134*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GConflicting classifications of pathogenicity
F11
(E135*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic
F11
(T141M)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
F11
(C146*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
F11
(D222Y)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
GLikely pathogenic
F11
(E261D)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+1 more
GUncertain significance
F11
(Q281*)
Single nucleotide variant
(nonsense)
Hereditary factor XI deficiency disease
+1 more
GPathogenic
F11
(F301L)
Single nucleotide variant
(missense variant)
not provided
+3 more
GPathogenic
F11
(I359fs)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic/Likely pathogenic
F11
(Y369*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
F11
(Q412*)
Single nucleotide variant
(nonsense)
Hereditary factor XI deficiency disease
+1 more
GPathogenic/Likely pathogenic
F11
(A430T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic/Likely pathogenic
F11
(S438*)
Single nucleotide variant
(nonsense)
F11-related condition
+1 more
GPathogenic/Likely pathogenic
F11
(G478R)
Single nucleotide variant
(missense variant)
Hereditary factor XI deficiency disease
+1 more
GPathogenic/Likely pathogenic
F11, F11-AS1
(R497*)
Single nucleotide variant
(nonsense)
not provided
+2 more
GPathogenic/Likely pathogenic
F11, F11-AS1
(W519*)
Single nucleotide variant
(nonsense)
Hereditary factor XI deficiency disease
+2 more
GPathogenic/Likely pathogenic
F11, F11-AS1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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